#Format: HPOTermName(HPO-ID)	[entrez-gene-symbol1(entrez-gene-id1), entrez-gene-symbol2(entrez-gene-id2)] (tab is used as a separator, pound sign - start of a comment)
'BULGING' EPIPHYSES(HP:0003013)	[CLCN5(1184), CYP27B1(1594), SLC34A3(142680), VDR(7421), CYP2R1(120227)]
'BULGING' OF THE COSTOCHONDRAL JUNCTION(HP:0000893)	[CYP27B1(1594), SLC34A3(142680), VDR(7421)]
'CARP-LIKE' MOUTH(HP:0000186)	[OFD1(8481), ATRX(546), EHMT1(79813)]
'COAT HANGER' DEFORMITY OF LOWER RIBS(HP:0006665)	[FLNA(2316)]
'CURVILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003205)	[CLN5(1203), TPP1(1200), CLN3(1201), NDRG1(10397), CLN8(2055), CLN6(54982)]
'DOLL-LIKE' FACIES(HP:0000295)	[SLC37A4(2542), G6PC(2538)]
'DRUMSTICK' TERMINAL PHALANGES(HP:0006129)	[RPS6KA3(6197)]
'ERLENMEYER FLASK' DEFORMITY OF DISTAL FEMUR(HP:0006422)	[ANKH(56172)]
'ERLENMEYER FLASK' DEFORMITY OF THE FEMURS(HP:0004975)	[ANKH(56172), GBA(2629)]
'FINGERPRINT' PROFILES ULTRASTRUCTURALLY(HP:0003208)	[CLN5(1203), CLN3(1201), CLN6(54982)]
'MOLAR TOOTH SIGN' ON MRI(HP:0002419)	[TMEM67(91147), NPHP1(4867), TMEM216(51259), AHI1(54806), INPP5E(56623), CEP290(80184)]
'MOTTLED' PIGMENTATION OF THE TRUNK AND PROXIMAL EXTREMITIES(HP:0007438)	[KRT5(3852)]
'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383)	[SBF2(81846), SH3TC2(79628), MFN2(9927), LMNA(4000), KIF1B(23095), NEFL(4747), NDRG1(10397), FGD4(121512), PRX(57716), EGR2(1959), ARHGEF10(9639), MPZ(4359), LITAF(9516), RAB7A(7879), SLC12A6(9990), GDAP1(54332), DNM2(1785), PMP22(5376)]
'PUGILISTIC FACIES'(HP:0000339)	[COL2A1(1280)]
'RECTILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003226)	[CLN5(1203)]
'SEA-BLUE' HISTIOCYTES(HP:0001982)	[NPC2(10577), NPC1(4864), SMPD1(6609), GLB1(2720)]
'STEPPAGE' GAIT(HP:0003376)	[SBF2(81846), MFN2(9927), LMNA(4000), HSPB1(3315), KIF1B(23095), NEFL(4747), GAN(8139), POLG(5428), PRX(57716), EGR2(1959), MPZ(4359), TTN(7273), RAB7A(7879), GDAP1(54332), PMP22(5376)]
'TREE-FROG' FEET(HP:0001782)	[FLNA(2316)]
'WHISTLING' APPEARANCE(HP:0000346)	[MYH3(4621)]
1-3 TOE SYNDACTYLY(HP:0001459)	[GLI3(2737)]
1-5 FINGER COMPLETE CUTANEOUS SYNDACTYLY(HP:0006088)	[LMBR1(64327)]
1-5 TOE SYNDACTYLY(HP:0010713)	[GLI3(2737)]
11 PAIRS OF RIBS(HP:0000878)	[LBR(3930), SOX9(6662), ATR(545), FLNB(2317)]
2-3 FINGER SYNDACTYLY(HP:0001233)	[FGF10(2255), GPC3(2719), SOST(50964), FGFR3(2261)]
2-3 OR 4-5 TOE SYNDACTYLY(HP:0004703)	[HOXD13(3239)]
2-3 TOE SYNDACTYLY(HP:0004691)	[SALL1(6299), NOG(9241), DHCR7(1717), BCOR(54880), FGFR1(2260), TP63(8626), LMBR1(64327), FGFR2(2263), NIPBL(25836)]
2-4 FINGER SYNDACTYLY(HP:0010709)	[SALL1(6299)]
2ND-5TH TOE MIDDLE PHALANGEAL HYPOPLASIA(HP:0008083)	[HOXD13(3239)]
3-4 FINGER SYNDACTYLY(HP:0006097)	[GLI3(2737)]
3-4 TOE SYNDACTYLY(HP:0009779)	[SALL1(6299), GJA1(2697)]
3-HYDROXYDICARBOXYLIC ACIDURIA(HP:0008160)	[HADHB(3032)]
3-METHYLGLUTACONIC ACIDURIA(HP:0003535)	[HMGCL(3155), DNAJC19(131118)]
3-METHYLGLUTARIC ACIDURIA(HP:0003344)	[HMGCL(3155), DNAJC19(131118)]
4-5 TOE SYNDACTYLY(HP:0004692)	[HOXD13(3239)]
4-HYDROXYPHENYLACETIC ACIDURIA(HP:0003607)	[HPD(3242)]
4-HYDROXYPHENYLPYRUVIC ACID DIOXYGENASE DEFICIENCY (HPD)(HP:0003637)	[HPD(3242)]
4-HYDROXYPHENYLPYRUVIC ACIDURIA(HP:0003161)	[HPD(3242)]
46,XY GONADAL DYSGENESIS(HP:0008668)	[DHH(50846)]
5TH FINGER CLINO-CAMPTODACTYLY(HP:0006062)	[HOXD13(3239)]
6 METACARPALS(HP:0001501)	[HOXD13(3239), LMBR1(64327)]
A SUBSET OF PATIENTS DEVELOP RENAL INSUFFICIENCY WITH DECREASED CREATININE CLEARANCE(HP:0004723)	[CLCN5(1184)]
A THIN SEAL OF BONE AT THE CHONDROOSSEOUS JUNCTION(HP:0003331)	[TRPV4(59341)]
ABDOMINAL DISTENTION(HP:0003270)	[RET(5979), INSR(3643), ZEB2(9839), PHOX2B(8929), VDR(7421), SLC26A2(1836), NPHS1(4868), L1CAM(3897), SPINT2(10653), CYP27B1(1594), SLC2A2(6514), NME1(4830), COL2A1(1280), GNE(10020), GNPTAB(79158), GDNF(2668), PRKCSH(5589), SLC37A4(2542), TRIP11(9321), G6PC(2538), LIPA(3988), SEC63(11231), MNX1(3110), SMPD1(6609), PAX8(7849)]
ABDOMINAL PAIN(HP:0002027)	[CPOX(1371), PPOX(5498), HPS5(11234), MVK(4598), POLG(5428), LPL(4023), BLOC1S3(388552), MEFV(4210), HMBS(3145), NME1(4830), SMAD4(4089), TYMP(1890), HEXB(3074), DTNBP1(84062), GLA(2717), HPS3(84343), HPS1(3257), SERPING1(710), FSHR(2492), CLDN16(10686), SPINK1(6690), HPS4(89781), BMPR1A(657), HPS6(79803), MLYCD(23417)]
ABDOMINAL SITUS INVERSUS(HP:0003363)	[SLC19A2(10560), DNAI1(27019), ZIC3(7547), NPHP3(27031), NODAL(4838)]
ABDOMINAL WALL MUSCLE WEAKNESS(HP:0009023)	[FBN1(2200)]
ABERRANT MELANOSOME MATURATION(HP:0007384)	[AP3B1(8546)]
ABETALIPOPROTEINEMIA(HP:0008181)	[PANK2(80025), MTTP(4547), SLC4A1(6521)]
ABNORMAL AGGRESSIVE, IMPULSIVE OR VIOLENT BEHAVIOR(HP:0006919)	[MAOA(4128)]
ABNORMAL ANATOMIC LOCATION OF THE HEART(HP:0004307)	[SLC19A2(10560), DNAI1(27019), ZIC3(7547), CRELD1(78987), NPHP3(27031), NODAL(4838), UBR1(197131), PQBP1(10084)]
ABNORMAL ANTIHELIX(HP:0009738)	[EVC(2121), SLC16A2(6567)]
ABNORMAL AUDITORY EVOKED POTENTIALS(HP:0006958)	[OPA1(4976), SH3TC2(79628), SOX10(6663), OTOF(9381), NDRG1(10397), MTMR2(8898), EDNRB(1910)]
ABNORMAL B CELL FUNCTION(HP:0005372)	[PNP(4860)]
ABNORMAL BLADDER REGULATION DUE TO AUTONOMIC DYSFUNCTION(HP:0005341)	[LMNB1(4001)]
ABNORMAL BLISTERING OF THE SKIN(HP:0008066)	[KRT5(3852), KRT14(3861), PLEC(5339)]
ABNORMAL BONE LABORATORY EXAMINATION(HP:0003330)	[TRPV4(59341), LBR(3930), CRTAP(10491), LEPRE1(64175)]
ABNORMAL BRAINSTEM AUDITORY EVOKED POTENTIALS, SUGGESTING DEMYELINATION(HP:0006923)	[NDRG1(10397), MYH3(4621)]
ABNORMAL CALCIFICATION OF THE CARPAL BONES(HP:0009164)	[EBP(10682), DDR2(4921)]
ABNORMAL CARDIOLOGICAL FINDINGS(HP:0003114)	[FXN(2395)]
ABNORMAL CARTILAGE COLLAGEN ON EM(HP:0008271)	[COL2A1(1280)]
ABNORMAL CERVICAL CURVATURE(HP:0005905)	[CHRNA1(1134), CHRNG(1146), CHRND(1144)]
ABNORMAL CHOLESTEROL HOMEOSTASIS(HP:0003464)	[NPC2(10577), NPC1(4864)]
ABNORMAL COLOR VISION(HP:0000551)	[OPA1(4976), BEST1(7439), PROM1(8842), CNGB3(54714), OPN1MW(2652), OPN1LW(5956)]
ABNORMAL CORTICAL GYRATION(HP:0002536)	[PEX19(5824), FKRP(79147), FH(2271), DCX(1641), PEX2(5828), LARGE(9215), PEX5(5830), RAPSN(5913), GPR56(9289), ATR(545), HSD17B4(3295), MECP2(4204), FREM2(341640), POMT1(10585), RELN(5649), PEX26(55670), FRAS1(80144), POMGNT1(55624), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), HYLS1(219844), ETFDH(2110), ETFB(2109), MCPH1(79648), LAMA2(3908), ETFA(2108), TUBA1A(7846), FKTN(2218), SNAP29(9342), DOK7(285489), RECQL4(9401), CPT2(1376), TUBB2B(347733), POMT2(29954)]
ABNORMAL CORTICOMEDULLARY DIFFERENTIATION(HP:0005932)	[INVS(27130), BSND(7809), PKHD1(5314), CLCNKB(1188), NIPBL(25836)]
ABNORMAL CSF FINDINGS(HP:0002921)	[TH(7054), NDUFS7(374291), ARSA(410), PDHA1(5160), DDC(1644), SDHA(6389), BCS1L(617), POLG(5428), NDUFAF2(91942), PSAP(5660), EGR2(1959), TTR(7276), COX15(1355), NDUFA1(4694), NDUFA2(4695), TREX1(11277), GFAP(2670), C8orf38(137682), GALC(2581), NDUFAF3(25915), LRPPRC(10128), COX6B1(1340), NDUFA11(126328), DLD(1738), NDUFAF4(29078), NDUFS1(4719), SURF1(6834), SUMF1(285362), PRX(57716), PNPO(55163), NDUFS3(4722), SCO2(9997), NDUFV1(4723), NDUFS2(4720), MPZ(4359), NDUFS6(4726), C20orf7(79133), NDUFS4(4724), FASTKD2(22868), NDUFS8(4728), SLC12A6(9990), PMP22(5376)]
ABNORMAL DELAYED HYPERSENSITIVITY SKIN TEST(HP:0002963)	[RFX5(5993), RAB27A(5873), RFXAP(5994), WAS(7454), FAS(355), CASP10(843), RFXANK(8625), CIITA(4261)]
ABNORMAL DELIVERY(HP:0001787)	[SLC26A2(1836), COL5A2(1290), MKS1(54903), PLOD1(5351), DHCR7(1717), COL5A1(1289), CRTAP(10491), COL1A2(1278), COL1A1(1277), ZMPSTE24(10269), ADAMTS2(9509)]
ABNORMAL DERMATOGLYPHICS(HP:0007477)	[PEX19(5824), ABCD3(5825), EP300(2033), WHCR(7467), PEX2(5828), EHMT1(79813), WHSC1(7468), PEX5(5830), ATR(545), RPS6KA3(6197), GATA1(2623), CCBE1(147372), GDF5(8200), BRAF(673), B4GALT7(11285), DCR(1637), MAP2K1(5604), MED12(9968), MAP2K2(5605), NOG(9241), HRAS(3265), FGD1(2245), UBR1(197131), PEX26(55670), BMP4(652), VPS13B(157680), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), KRAS(3845), PEX3(8504), B3GALTL(145173), TFAP2A(7020), NIPBL(25836), SEMA3E(9723), LIFR(3977), OFD1(8481), CREBBP(1387), TPM2(7169), DPAGT1(1798), CHST3(9469), KRT14(3861), CHD7(55636)]
ABNORMAL DERMATOLOGICAL LABORATORY FINDINGS(HP:0003340)	[LAMB3(3914), ITGB4(3691), GPR143(4935), LAMC2(3918), ITGA6(3655), LAMA3(3909)]
ABNORMAL ECHOCARDIOGRAM(HP:0003116)	[FXN(2395)]
ABNORMAL EKG(HP:0003115)	[FXN(2395)]
ABNORMAL ELECTRORETINOGRAM(HP:0000512)	[PEX19(5824), FKRP(79147), OPN1SW(611), PEX2(5828), LARGE(9215), PEX5(5830), RP1(6101), RP9(6100), HSD17B4(3295), PDE6B(5158), RS1(6247), PRPH2(5961), PPT1(5538), GUCY2D(3000), AHI1(54806), RLBP1(6017), PEX26(55670), MYO7A(4647), RBP4(5950), RHO(6010), POMGNT1(55624), ALG3(10195), IMPDH1(3614), BEST1(7439), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), TIMM8A(1678), MCOLN1(57192), NR2E3(10002), ACOX1(51), TPP1(1200), CLN3(1201), RPE65(6121), NOTCH3(4854)]
ABNORMAL EMG FINDINGS(HP:0003457)	[COLQ(8292), SMN1(6606), ARSA(410), PLEKHG5(57449), PLA2G6(8398), HSPB1(3315), RAPSN(5913), CAV3(859), SGCB(6443), VAPB(9217), MUSK(4593), IGHMBP2(3508), HSPB8(26353), CHRNE(1145), ALS2(57679), VRK1(7443), SLC12A6(9990), GDAP1(54332), CHRNB1(1140), OAT(4942), ATP7A(538), LDB3(11155)]
ABNORMAL ENDOCRINOLOGICAL LABORATORY FINDINGS(HP:0003117)	[GLUD1(2746), VDR(7421), H19(283120), SLC16A1(6566), GLI3(2737), IYD(389434), PDE11A(50940), THRB(7068), HESX1(8820), BTK(695), GYS2(2998), MC2R(4158), LHX3(8022), PPARG(5468), NKX2-1(7080), AIP(9049), TSHR(7253), SLC5A5(6528), GNASAS(149775), DCAF17(80067), CRH(1392), ABCC8(6833), PRKAR1A(5573), NR0B1(190), SLC12A1(6557), MRAP(56246), STX16(8675), GH1(2688), KCNJ11(3767), SNRPN(6638), INSR(3643), LMNA(4000), SDHD(6392), SDHC(6391), SLC1A1(6505), ZMPSTE24(10269), MPI(4351), NDN(4692), CYP27B1(1594), KCNJ1(3758), CYP11B2(1585), PITX2(5308), CYP11B1(1584), SMARCAL1(50485), BSCL2(26580), SHH(6469), GNAS(2778), VPS13B(157680), GCK(2645), KAL1(3730), TP63(8626), SEMA3E(9723), PPP1R3A(5506), HADH(3033), ALMS1(7840), SLC34A3(142680), SCNN1G(6340), AGPAT2(10555), TBX19(9095), CASR(846), SCNN1B(6338), CHD7(55636), PAX8(7849)]
ABNORMAL EXTERNAL GENITALIA(HP:0000811)	[FBN1(2200), DCX(1641), ATRX(546), TGM1(7051), BBS5(129880), PROK2(60675), ATR(545), MYH3(4621), NELF(26012), CCBE1(147372), HSD17B3(3293), NSD1(64324), H19(283120), DNAJC19(131118), GLI3(2737), FERMT1(55612), ESCO2(157570), KCNQ1OT1(10984), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), AMH(268), AMHR2(269), SC5DL(6309), SALL1(6299), GPC3(2719), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), SEC23A(10484), PTEN(5728), B3GALTL(145173), DCAF17(80067), ROR2(4920), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CREBBP(1387), POR(5447), RAB23(51715), CYP11A1(1583), MKKS(8195), SNRPN(6638), HCCS(3052), LMNA(4000), RAPSN(5913), ZEB2(9839), FGFR1(2260), EVC2(132884), FGFR3(2261), OCRL(4952), INPP5E(56623), TAC3(6866), MECP2(4204), FGFR2(2263), CDKN1C(1028), BBS12(166379), TACR3(6870), CUL4B(8450), FGF10(2255), SOS1(6654), NDN(4692), PHF6(84295), DSP(1832), POLA1(5422), HOXA13(3209), GPC6(10082), FGD1(2245), CYP21A2(1589), CYP17A1(1586), PQBP1(10084), PEX26(55670), TTC8(123016), CYP11B1(1584), BSCL2(26580), FOXC2(2303), LHCGR(3973), TBCE(6905), LHB(3972), UBA1(7317), SLC39A4(55630), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), BBS4(585), PORCN(64840), PEX3(8504), ALOXE3(59344), NIPBL(25836), BBS10(79738), KDM5C(8242), OFD1(8481), HOXD13(3239), BBS7(55212), DOK7(285489), CUL7(9820), AR(367), SMS(6611), CHD7(55636), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), ERCC2(2068), PEX5(5830), STS(412), TBX15(6913), TRIM32(22954), ARL6(84100), TBX3(6926), STRA6(64220), ERCC6(2074), FLNA(2316), MTM1(4534), FLNB(2317), MID1(4281), BUB1B(701), SOX2(6657), HNF1B(6928), TCOF1(6949), BMP4(652), TSPYL1(7259), DKC1(1736), IRF6(3664), SRD5A2(6716), BLM(641), WT1(7490), MKS1(54903), KISS1R(84634), NR0B1(190), ARX(170302), RECQL4(9401), RAB3GAP1(22930), PLEC(5339), HSPG2(3339), WHCR(7467), CD96(10225), INSR(3643), WHSC1(7468), INSL3(3640), ERCC8(1161), ATIC(471), CEP290(80184), ZMPSTE24(10269), DHCR24(1718), MED12(9968), PTPN11(5781), DHCR7(1717), RXFP2(122042), WNT3(7473), FREM2(341640), WNT7A(7476), EVC(2121), PHGDH(26227), PITX2(5308), STAR(6770), FRAS1(80144), PCNT(5116), F13A1(2162), TP63(8626), FANCA(2175), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), EFNB1(1947), TPM2(7169), AGPAT2(10555), ALOX12B(242)]
ABNORMAL EYE MOVEMENTS, PAROXYSMAL(HP:0007704)	[SLC2A1(6513)]
ABNORMAL FACIAL EXPRESSION(HP:0005346)	[PRNP(5621), TH(7054), UCHL1(7345), TBP(6908), MYH3(4621), MAPT(4137), CC2D1A(54862), ATP13A2(23400), DCTN1(1639), MYF6(4618), PANK2(80025), NLGN4X(57502), PNKD(25953), DNM2(1785), DBH(1621)]
ABNORMAL FACILITY IN OPPOSING THE SHOULDERS(HP:0005259)	[RUNX2(860)]
ABNORMAL FEET MORPHOLOGY(HP:0010611)	[MAP2K1(5604), MAP2K2(5605), EP300(2033), CD96(10225), HRAS(3265), PTCH1(5727), CREBBP(1387), KRAS(3845), ERCC6(2074), BRAF(673)]
ABNORMAL FINGER FLEXION CREASES(HP:0006143)	[NOG(9241), HOXD13(3239), TBX15(6913), ATR(545), TNNI2(7136), MYH3(4621), TPM2(7169), IHH(3549), WNT7A(7476), TNNT3(7140), LMX1B(4010)]
ABNORMAL FLASH VISUAL EVOKED POTENTIALS(HP:0007928)	[GALC(2581)]
ABNORMAL FORM OF EARS(HP:0000377)	[FBN1(2200), FBN2(2201), FKRP(79147), ATRX(546), NSD1(64324), DCR(1637), GLI3(2737), SLC16A2(6567), ESCO2(157570), CHRNA1(1134), SALL1(6299), PEX10(5192), PEX14(5195), PEX13(5194), SEC23A(10484), PEX1(5189), B3GALTL(145173), SLC6A8(6535), FKTN(2218), RAB3GAP2(25782), SLC9A6(10479), CHRNE(1145), CHRND(1144), CREBBP(1387), POR(5447), SLC12A6(9990), RAB23(51715), CPT2(1376), MAN2B1(4125), ZEB2(9839), FGFR1(2260), FGFR3(2261), NBN(4683), MECP2(4204), FGFR2(2263), COL5A2(1290), COL6A1(1291), FGF10(2255), COL5A1(1289), PHF6(84295), FGF3(2248), IGBP1(3476), COL6A2(1292), COL6A3(1293), FGD1(2245), KCNJ1(3758), COL3A1(1281), PQBP1(10084), PEX26(55670), ABHD5(51099), OPHN1(4983), PEX3(8504), EBP(10682), KDM5C(8242), FAM123B(139285), CHD7(55636), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), LARGE(9215), TWIST1(7291), TBX15(6913), PEX5(5830), RPS6KA3(6197), GATA1(2623), MGP(4256), ERCC6(2074), FLNA(2316), PMM2(5373), POMT1(10585), FMR1(2332), TCOF1(6949), HOXA2(3199), BMP4(652), BLM(641), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), COL1A1(1277), RAB3GAP1(22930), MGAT2(4247), POMT2(29954), HSPG2(3339), TRPS1(7227), INSR(3643), EHMT1(79813), ERCC8(1161), LMBRD1(55788), ZMPSTE24(10269), EYA1(2138), MED12(9968), PTPN11(5781), DHCR24(1718), FREM2(341640), EVC(2121), FRAS1(80144), ADAMTSL2(9719), ALG3(10195), PCNT(5116), CLCF1(23529), TP63(8626), HYLS1(219844), TFAP2B(7021), TFAP2A(7020), MMACHC(25974), SEMA3E(9723), GBA(2629)]
ABNORMAL FORM OF THE VERTEBRAL BODIES(HP:0003312)	[ARSB(411), GUSB(2990), ATRX(546), NPR2(4882), TBX15(6913), FLNA(2316), PLOD2(5352), GLI3(2737), FLNB(2317), SGSH(6448), IKBKG(8517), SOX2(6657), PAPSS2(9060), MATN3(4148), PTCH1(5727), SLC35D1(23169), IHH(3549), GNPTAB(79158), TCIRG1(10312), SC5DL(6309), GLB1(2720), AGA(175), AIP(9049), SEC23A(10484), GALNS(2588), PEX7(5191), LRP5(4041), B3GALTL(145173), ROR2(4920), DDR2(4921), LBR(3930), CHRNG(1146), GNPAT(8443), COL1A2(1278), VANGL1(81839), POR(5447), ACAN(176), COL1A1(1277), NAGLU(4669), JAG1(182), MAN2B1(4125), ATP7A(538), TRAPPC2(6399), HSPG2(3339), COMP(1311), FGFR1(2260), FGFR3(2261), OCRL(4952), COL9A1(1297), MMP13(4322), COL11A2(1302), COL11A1(1301), SLC26A2(1836), RMRP(6023), GNS(2799), SBDS(51119), DYM(54808), SH3PXD2B(285590), COL2A1(1280), FUCA1(2517), CBS(875), GDF6(392255), ACVR1(90), SMARCAL1(50485), ADA(100), HGSNAT(138050), SOST(50964), WISP3(8838), SEMA3E(9723), EIF2AK3(9451), EBP(10682), TRPV4(59341), DLL3(10683), GORAB(92344), ALPL(249), CUL7(9820), CHST3(9469), CHD7(55636), LEPRE1(64175)]
ABNORMAL FORMATION OF MYELIN SHEATHS(HP:0004335)	[CTDP1(9150), SBF2(81846), GPR56(9289), ERCC8(1161), MTMR2(8898), GJC2(57165), HSD17B4(3295), ERCC6(2074), MCOLN1(57192), EIF2B2(8892), EIF2B5(8893), EGR2(1959), SOX10(6663), MPZ(4359), EIF2B4(8890), EIF2B3(8891), GDAP1(54332), EIF2B1(1967), PHGDH(26227)]
ABNORMAL GLUCOSE TOLERANCE(HP:0001952)	[SLC19A2(10560), BBS5(129880), TRIM32(22954), ARL6(84100), HNF1A(6927), PRPS1(5631), CTNS(1497), FOXP3(50943), CP(1356), HNF1B(6928), UBR1(197131), BBS9(27241), PPARG(5468), AIP(9049), NEUROG3(50674), BLM(641), DCAF17(80067), ABCC8(6833), MKS1(54903), SPINK1(6690), HNF4A(3172), PDX1(3651), KCNJ11(3767), PRSS1(5644), MKKS(8195), WFS1(7466), INSR(3643), LMNA(4000), ATM(472), APOA5(116519), APOE(348), CEP290(80184), BBS12(166379), PAX4(5078), ZMPSTE24(10269), PRPS2(5634), AIRE(326), INS(3630), WRN(7486), FXN(2395), AKT2(208), HFE(3077), TTC8(123016), TNDM(7952), SLC5A1(6523), BSCL2(26580), CNBP(7555), GCK(2645), PCNT(5116), BBS1(582), BBS2(583), BBS4(585), EIF2AK3(9451), PPP1R3A(5506), BBS10(79738), BBS7(55212), ALMS1(7840), AGPAT2(10555), ZFP57(346171)]
ABNORMAL HAIR GROWTH PATTERN(HP:0010720)	[EP300(2033), DMPK(1760), GUSB(2990), TWIST1(7291), BBS5(129880), TRIM32(22954), ARL6(84100), CCBE1(147372), ERCC6(2074), FLNA(2316), GLI3(2737), IDS(3423), SGSH(6448), MID1(4281), ALX3(257), MITF(4286), COX15(1355), GNE(10020), UBR1(197131), BBS9(27241), GLB1(2720), TCOF1(6949), PPARG(5468), LRPPRC(10128), UROD(7389), AIP(9049), DLD(1738), B3GALTL(145173), UROS(7390), TSC1(7248), BLM(641), SURF1(6834), TSC2(7249), MKS1(54903), PRKAR1A(5573), ARX(170302), CREBBP(1387), FST(10468), WNT4(54361), NAGLU(4669), KIAA1279(26128), MAN2B1(4125), RAB3GAP1(22930), ADAMTS2(9509), NDUFS7(374291), HSPG2(3339), MKKS(8195), SNRPN(6638), WHCR(7467), CD96(10225), INSR(3643), EHMT1(79813), WHSC1(7468), LMNA(4000), FGFR1(2260), FGFR3(2261), SDHA(6389), FGFR2(2263), BCS1L(617), CEP290(80184), BBS12(166379), PAX3(5077), MED12(9968), PTPN11(5781), SOS1(6654), NDN(4692), GNS(2799), NDUFA2(4695), FGD1(2245), FREM2(341640), GDF6(392255), TTC8(123016), C8orf38(137682), BSCL2(26580), CNBP(7555), FRAS1(80144), HGSNAT(138050), BBS1(582), BBS2(583), BBS4(585), ALDOA(226), NIPBL(25836), EFNB1(1947), TFAP2A(7020), PPP1R3A(5506), NDUFS3(4722), NDUFV1(4723), BBS10(79738), MMP2(4313), BBS7(55212), NDUFS4(4724), AGPAT2(10555), NDUFS8(4728)]
ABNORMAL HAIR LABORATORY EXAMINATION(HP:0003328)	[BCS1L(617)]
ABNORMAL HAIR WHORL(HP:0010721)	[MED12(9968), EP300(2033), SNRPN(6638), NDN(4692), CREBBP(1387), UBR1(197131)]
ABNORMAL HAND MORPHOLOGY(HP:0005922)	[BSCL2(26580), SNRPN(6638), VPS13B(157680), INSR(3643), NSD1(64324), GDF5(8200), KDM5C(8242), COL7A1(1294), NDN(4692), PTCH1(5727), MOGS(7841), AGPAT2(10555), TPM2(7169), SMS(6611)]
ABNORMAL HEAD MOVEMENTS(HP:0002457)	[DLAT(1737), GJC2(57165), FMR1(2332)]
ABNORMAL HEMATOLOGICAL LABORATORY FINDINGS(HP:0003135)	[PGK1(5230), P2RY12(64805), CD40LG(959), TBXAS1(6916), TINF2(26277), MMAA(166785), SH2D1A(4068), ATR(545), GATA1(2623), SALL4(57167), CD36(948), ANK1(286), CTNS(1497), ITGB3(3690), FOXP3(50943), SLC7A7(9056), NPC2(10577), THPO(7066), NPC1(4864), TREX1(11277), MYH9(4627), FANCD2(2177), FANCC(2176), HLCS(3141), FANCE(2178), TCIRG1(10312), SC5DL(6309), ITGA2(3673), GALC(2581), TCN2(6948), ITGA2B(3674), LYST(1130), PTGS1(5742), PKLR(5313), DKC1(1736), PSTPIP1(9051), UROS(7390), C10orf2(56652), LBR(3930), PFKM(5213), MPL(4352), AP3B1(8546), ADAMTS13(11093), MPV17(4358), UMPS(7372), TNFSF11(8600), GP1BA(2811), WFS1(7466), GP9(2815), GP1BB(2812), ACAD9(28976), NDRG1(10397), NHP2(55651), MVK(4598), APOE(348), LMBRD1(55788), MUT(4594), PTPN11(5781), DGUOK(1716), GNS(2799), HOXA11(3207), RAG2(5897), SBDS(51119), RAG1(5896), KCNJ1(3758), CFH(3075), COL4A5(1287), SLC4A1(6521), PHGDH(26227), NOP10(55505), SMARCAL1(50485), ADA(100), HGSNAT(138050), MMAB(326625), TERC(7012), TERT(7015), DCLRE1C(64421), FANCA(2175), MMACHC(25974), NIPBL(25836), RUNX1(861), PCCB(5096), VWF(7450), JAK2(3717), FCGR2C(9103), WAS(7454), GBA(2629), IVD(3712), FAS(355), PNP(4860), F9(2158), CASP10(843), MASTL(84930), SLC35A1(10559), SMPD1(6609), PCCA(5095)]
ABNORMAL IMMUNOGLOBULIN LEVEL(HP:0010701)	[CD40(958), CD40LG(959), SH2D1A(4068), ERCC2(2068), SPINK5(11005), ATM(472), ERCC3(2071), SETX(23064), TNFRSF13B(23495), MVK(4598), HBG1(3047), CIITA(4261), B2M(567), RAG2(5897), RAG1(5896), BTK(695), PMM2(5373), TCN2(6948), CNBP(7555), ADA(100), SFTPA2(729238), KRT1(3848), DCLRE1C(64421), ROBLD3(28956), PSG1(5669), SP110(3431), RFXANK(8625), IL2RG(3561), BLM(641), PCCB(5096), RFX5(5993), GTF2H5(404672), KRT16(3868), KLHDC8B(200942), RFXAP(5994), ELANE(1991), WAS(7454), FAS(355), CASP10(843), CXCR4(7852), ICOS(29851), MAN2B1(4125), KRT9(3857), PCCA(5095)]
ABNORMAL IMMUNOLOGICAL LABORATORY FINDING(HP:0003346)	[CD40(958), CD40LG(959), ERCC2(2068), SPINK5(11005), SH2D1A(4068), ERCC3(2071), SETX(23064), CIITA(4261), B2M(567), TREX1(11277), BTK(695), PMM2(5373), TCN2(6948), SP110(3431), BLM(641), IL2RG(3561), RFX5(5993), GTF2H5(404672), RFXAP(5994), ELANE(1991), ICOS(29851), MAN2B1(4125), ATM(472), TNFRSF13B(23495), NBN(4683), MVK(4598), HBG1(3047), PRTN3(5657), RAG2(5897), RAG1(5896), CNBP(7555), ADA(100), KRT1(3848), SFTPA2(729238), DCLRE1C(64421), ROBLD3(28956), PSG1(5669), RFXANK(8625), PCCB(5096), FCGR2C(9103), KLHDC8B(200942), KRT16(3868), WAS(7454), MMP2(4313), FAS(355), CASP10(843), CXCR4(7852), KRT9(3857), PCCA(5095)]
ABNORMAL INTERNAL GENITALIA(HP:0000812)	[FBN1(2200), RET(5979), ATRX(546), PROK2(60675), ATR(545), CCBE1(147372), GLRB(2743), GLRA1(2741), H19(283120), DNAJC19(131118), GLI3(2737), KCNQ1OT1(10984), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), GLB1(2720), PPARG(5468), GPC3(2719), SEC23A(10484), B3GALTL(145173), ROR2(4920), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), POR(5447), FST(10468), GP1BA(2811), MKKS(8195), SNRPN(6638), FH(2271), GP9(2815), GP1BB(2812), RAPSN(5913), ZEB2(9839), FGFR1(2260), OCRL(4952), FGFR2(2263), BBS12(166379), POLG(5428), CDKN1C(1028), SOS1(6654), POLA1(5422), GNRH1(2796), HOXA13(3209), FGD1(2245), CYP19A1(1588), CYP17A1(1586), CYP11B1(1584), HPRT1(3251), FOXC2(2303), BBS1(582), KAL1(3730), BBS2(583), OPHN1(4983), BBS4(585), NIPBL(25836), BBS10(79738), CCND1(595), KDM5C(8242), DOK7(285489), CUL7(9820), SMS(6611), DMPK(1760), TRIM32(22954), EFEMP2(30008), ARL6(84100), HNF1A(6927), TBX3(6926), STRA6(64220), ERCC6(2074), MTM1(4534), ITGB3(3690), BUB1B(701), HNF1B(6928), BTK(695), TCOF1(6949), BMP4(652), ITGA2B(3674), AGA(175), BCOR(54880), SOX18(54345), GALNS(2588), DKC1(1736), IRF6(3664), BLM(641), WT1(7490), FOXL2(668), MKS1(54903), KISS1R(84634), NR0B1(190), COL1A2(1278), WNT4(54361), RECQL4(9401), COL1A1(1277), RAB3GAP1(22930), BMPR1B(658), WHCR(7467), WFS1(7466), INSR(3643), WHSC1(7468), INSL3(3640), ERCC8(1161), CEP290(80184), PAX3(5077), MED12(9968), EIF2B2(8892), GPHN(10243), EIF2B5(8893), DHCR7(1717), RXFP2(122042), DGCR(1714), EIF2B4(8890), EIF2B3(8891), WNT3(7473), WNT7A(7476), HFE(3077), EVC(2121), PHGDH(26227), FRAS1(80144), F13A1(2162), FANCA(2175), TFAP2A(7020), VHL(7428), PPP1R3A(5506), VWF(7450), ATP6V0A2(23545), F10(2159), MNX1(3110), F5(2153), LEPRE1(64175), GUSB(2990), BBS5(129880), MYH3(4621), NELF(26012), SALL4(57167), NSD1(64324), ESCO2(157570), STK11(6794), MYH9(4627), PTCH1(5727), GNE(10020), AMH(268), AMHR2(269), UPK3A(7380), SALL1(6299), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), AIP(9049), PEX1(5189), PTEN(5728), DCAF17(80067), FSHB(2488), FSHR(2492), CREBBP(1387), RAB23(51715), MAN2B1(4125), ADAMTS2(9509), HCCS(3052), LMNA(4000), EVC2(132884), LOX(4015), NBN(4683), TAC3(6866), MECP2(4204), TACR3(6870), COL5A2(1290), SLC26A2(1836), AIRE(326), CUL4B(8450), COL5A1(1289), NDN(4692), PHF6(84295), GPC6(10082), COL2A1(1280), COL3A1(1281), CBS(875), PQBP1(10084), TTC8(123016), PEX26(55670), BSCL2(26580), TBCE(6905), LHCGR(3973), LHB(3972), UBA1(7317), SLC39A4(55630), TBX1(6899), PORCN(64840), PCSK1(5122), PEX3(8504), OFD1(8481), BBS7(55212), ALMS1(7840), DHH(50846), AR(367), CHD7(55636), PEX19(5824), ARSB(411), PLOD1(5351), EP300(2033), ABCD3(5825), PEX2(5828), STS(412), PEX5(5830), RPS6KA3(6197), FLNA(2316), PLOD2(5352), FLNB(2317), IDS(3423), MID1(4281), SOX2(6657), FLT4(2324), PMM2(5373), NEU1(4758), FMR1(2332), ELN(2006), TSPYL1(7259), ARX(170302), MBTPS2(51360), SLC6A5(9152), SRY(6736), HSPG2(3339), CD96(10225), ATM(472), PTPN11(5781), FBLN5(10516), EIF2B1(1967), FREM2(341640), TP63(8626), HYLS1(219844), SEMA3E(9723), SSTR5(6755), TPM2(7169), AGPAT2(10555)]
ABNORMAL IRIS PIGMENTATION(HP:0008034)	[PEX19(5824), ABCD3(5825), PEX2(5828), PEX5(5830), GATA1(2623), ANCR(282), MECP2(4204), PAX3(5077), LMX1B(4010), DCR(1637), EDNRB(1910), SOX10(6663), CDKL5(6792), MITF(4286), UROC1(131669), SNAI2(6591), UBE3A(7337), PEX26(55670), PAH(5053), LYST(1130), PEX10(5192), PEX14(5195), PEX13(5194), TP63(8626), PEX1(5189), PEX3(8504), TYR(7299)]
ABNORMAL IRIS VASCULATURE(HP:0007905)	[CYP1B1(1545), MYOC(4653)]
ABNORMAL IRON DEPOSITION IN MITOCHONDRIA(HP:0008306)	[ISCU(23479)]
ABNORMAL ISOELECTRIC FOCUSING OF SERUM TRANSFERRIN(HP:0003160)	[MPI(4351), ALG1(56052), ALG3(10195), DOLK(22845), ALG6(29929), PMM2(5373), DPM1(8813), MGAT2(4247)]
ABNORMAL ISOELECTRIC FOCUSING OF SERUM TRANSFERRIN (TYPE 1 PATTERN)(HP:0003642)	[MPI(4351), ALG1(56052), ALG3(10195), ALG6(29929), PMM2(5373), DPM1(8813)]
ABNORMAL LIVER FUNCTION TESTS(HP:0001411)	[CPT1A(1374), ACAD9(28976), ALG6(29929), BCS1L(617), MVK(4598), HSD17B4(3295), POLG(5428), DPM1(8813), AMACR(23600), FAH(2184), DGUOK(1716), GNMT(27232), HNF1B(6928), GALT(2592), SBDS(51119), TREX1(11277), UQCRQ(27089), PMM2(5373), HFE(3077), SC5DL(6309), UQCRB(7381), ACADM(34), SLC37A4(2542), G6PC(2538), AKR1D1(6718), C10orf2(56652), SERPINA1(5265), ACOX1(51), HADHB(3032), MPV17(4358), ALMS1(7840), AGL(178), MRPS16(51021), HADHA(3030), CPT2(1376), JAG1(182)]
ABNORMAL LOCATION OF EARS(HP:0000357)	[MYCN(4613), FBN1(2200), RET(5979), ATRX(546), ATR(545), CCBE1(147372), HSD17B4(3295), EDN3(1908), GLI3(2737), ESCO2(157570), ALX3(257), HRAS(3265), GNE(10020), CHRNA1(1134), UPK3A(7380), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), ROR2(4920), ACOX1(51), RAB3GAP2(25782), GJA1(2697), AP3B1(8546), CHRNG(1146), CREBBP(1387), CHRND(1144), RAB23(51715), CPT2(1376), RAPSN(5913), FGFR1(2260), INPP5E(56623), MECP2(4204), FGFR2(2263), COL11A1(1301), BDNF(627), SOS1(6654), IGBP1(3476), CECR(1055), KCNJ2(3759), PEX26(55670), NEB(4703), TBCE(6905), TBX1(6899), PORCN(64840), PEX3(8504), NIPBL(25836), LIFR(3977), OFD1(8481), FAM123B(139285), DOK7(285489), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), TWIST1(7291), PEX5(5830), PHOX2B(8929), STRA6(64220), BRAF(673), FLNA(2316), MAP2K1(5604), MAP2K2(5605), SOX9(6662), BUB1B(701), NF1(4763), MAPK10(5602), DNMT3B(1789), BMP4(652), CTSD(1509), MKS1(54903), LBR(3930), ASCL1(429), RECQL4(9401), KIAA1279(26128), MRPS16(51021), HSPG2(3339), CD96(10225), INSR(3643), ATIC(471), MVK(4598), LMBRD1(55788), ZMPSTE24(10269), PTPN11(5781), DHCR24(1718), MED12(9968), DHCR7(1717), DGCR(1714), AHI1(54806), FAM20C(56975), WNT3(7473), FREM2(341640), GDNF(2668), FRAS1(80144), CHST14(113189), KRAS(3845), HYLS1(219844), TFAP2B(7021), TFAP2A(7020), MMACHC(25974), GBA(2629)]
ABNORMAL LUNG LOBATION(HP:0002101)	[LBR(3930), DHCR7(1717), HYLS1(219844), GLI3(2737)]
ABNORMAL MAGNESIUM METABOLISM(HP:0004921)	[TBCE(6905)]
ABNORMAL METACARPAL MORPHOLOGY(HP:0005916)	[FBN1(2200), GUSB(2990), NPR2(4882), MMP2(4313), ADAMTS10(81794), FGFR1(2260), GALNS(2588), DDR2(4921), FLNA(2316), GLB1(2720)]
ABNORMAL METAPHYSEAL TRABECULATION(HP:0005089)	[LIFR(3977)]
ABNORMAL METAPHYSEAL VASCULAR INVASION(HP:0003562)	[TRPV4(59341)]
ABNORMAL MIDDLE EAR REFLEXES(HP:0004454)	[MYO7A(4647), AAAS(8086), CACNA1A(773), OTOF(9381)]
ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316)	[NDUFV1(4723), NDUFS2(4720), NDUFS6(4726), C20orf7(79133), NDUFAF3(25915), NDUFA1(4694), NDUFS4(4724), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), NDUFAF2(91942)]
ABNORMAL MOTOR AND SENSORY NERVE CONDUCTION(HP:0003134)	[TRPV4(59341), HSPB8(26353), SLC12A6(9990), ATXN1(6310), FXN(2395)]
ABNORMAL MUSCLE FIBERS WITH AMORPHOUS, GRANULAR, OR HYALINE DEPOSITS(HP:0003790)	[MYOT(9499), FLNC(2318)]
ABNORMAL MUSCLE TONE(HP:0003808)	[GPHN(10243), MOCS2(4338), MOCS1(4337)]
ABNORMAL MYELINATION(HP:0002520)	[ARSA(410), SH3TC2(79628), ERCC3(2071), SACS(26278), NEFL(4747), SETX(23064), GJC2(57165), HSD17B4(3295), ERCC6(2074), MAT1A(4143), IKBKAP(8518), SOX10(6663), COX15(1355), RAB7A(7879), DNM2(1785), SBF2(81846), GALC(2581), ASPA(443), LRPPRC(10128), KIF1B(23095), NTRK1(4914), MTMR2(8898), PEX7(5191), D2HGDH(728294), FGD4(121512), DLD(1738), UPB1(51733), GJB1(2705), MCOLN1(57192), SURF1(6834), L2HGDH(79944), PRX(57716), MPZ(4359), ARHGEF10(9639), LITAF(9516), CTDP1(9150), NDUFS7(374291), CD96(10225), PDHA1(5160), LMNB1(4001), LMNA(4000), GPR56(9289), NDRG1(10397), ERCC8(1161), SDHA(6389), BCS1L(617), MUT(4594), EIF2B2(8892), PSAP(5660), EIF2B5(8893), EGR2(1959), HSPB8(26353), EIF2B4(8890), EIF2B3(8891), TREM2(54209), NDUFA2(4695), EIF2B1(1967), ACY1(95), GDAP1(54332), GFAP(2670), PHGDH(26227), C8orf38(137682), ATN1(1822), MFN2(9927), ALDH3A2(224), WNK1(65125), NDUFS3(4722), NDUFV1(4723), NDUFS4(4724), GAA(2548), TYROBP(7305), APTX(54840), NDUFS8(4728), PMP22(5376), MTTP(4547), SPTLC1(10558), GCDH(2639)]
ABNORMAL MYELINATION IN SURAL NERVE BIOPSIES(HP:0003130)	[ERCC8(1161), ERCC6(2074)]
ABNORMAL NASAL MORPHOLOGY(HP:0005105)	[MYCN(4613), FBN1(2200), AVP(551), ATRX(546), ATR(545), GLI3(2737), NOG(9241), ALX3(257), HRAS(3265), CRLF1(9244), EMG1(10436), UBR1(197131), GNPTAB(79158), SC5DL(6309), GLB1(2720), CHRNA1(1134), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), ROR2(4920), ABCC8(6833), SLC9A6(10479), GJA1(2697), CHRNG(1146), SLC17A5(26503), CREBBP(1387), CHRND(1144), CPT2(1376), MAN2B1(4125), KCNJ11(3767), FH(2271), PDHA1(5160), LMNA(4000), FGFR1(2260), NBN(4683), INPP5E(56623), FGFR2(2263), COL11A2(1302), COL11A1(1301), PRPS2(5634), FGD1(2245), KCNJ2(3759), COL2A1(1280), FUCA1(2517), PEX26(55670), PQBP1(10084), ANKH(56172), TBCE(6905), VPS13B(157680), TRIP11(9321), OPHN1(4983), TBX1(6899), PEX3(8504), NIPBL(25836), OFD1(8481), MOGS(7841), PEX19(5824), EP300(2033), PEX2(5828), TWIST1(7291), PEX5(5830), RPS6KA3(6197), PRPS1(5631), ERCC6(2074), BRAF(673), MAP2K1(5604), MAP2K2(5605), MID1(4281), BUB1B(701), LRPPRC(10128), AGA(175), BCOR(54880), BLM(641), GNPAT(8443), AGL(178), KIAA1279(26128), COL1A1(1277), CTSK(1513), JAG1(182), TRPS1(7227), WHCR(7467), NHS(4810), CD96(10225), EHMT1(79813), WHSC1(7468), ERCC8(1161), ATIC(471), ZMPSTE24(10269), EYA1(2138), INS(3630), MED12(9968), DHCR7(1717), AHI1(54806), WRN(7486), FREM2(341640), SMARCAL1(50485), FRAS1(80144), ADAMTSL2(9719), ALG3(10195), GCK(2645), STAT3(6774), TP63(8626), KRAS(3845), HYLS1(219844), EFNB1(1947), MMP2(4313), GBA(2629)]
ABNORMAL NEUROLOGICAL LABORATORY FINDINGS(HP:0003129)	[TH(7054), SH3TC2(79628), ARSA(410), PLA2G6(8398), DDC(1644), MYH3(4621), SGCB(6443), CLN6(54982), PRPS1(5631), VAPB(9217), ERCC6(2074), PLP1(5354), NDUFAF2(91942), EDNRB(1910), SOX10(6663), TTR(7276), COX15(1355), ALS2(57679), CLN8(2055), TREX1(11277), ATXN1(6310), COLQ(8292), GALC(2581), PLEKHG5(57449), LRPPRC(10128), NDUFAF3(25915), OTOF(9381), HSPB1(3315), MTMR2(8898), DLD(1738), SURF1(6834), PRX(57716), PNPO(55163), CTSD(1509), SCO2(9997), MPZ(4359), C20orf7(79133), CHRNE(1145), SLC12A6(9990), CHRNB1(1140), ATP7A(538), NDUFS7(374291), PDHA1(5160), RAPSN(5913), NDRG1(10397), ERCC8(1161), SDHA(6389), BCS1L(617), APOE(348), POLG(5428), MUSK(4593), PRPS2(5634), PSAP(5660), EGR2(1959), PPT1(5538), PSEN1(5663), HSPB8(26353), NDUFA1(4694), NDUFA2(4695), GDAP1(54332), FXN(2395), GFAP(2670), OAT(4942), C8orf38(137682), OPA1(4976), SMN1(6606), COX6B1(1340), CAV3(859), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), SUMF1(285362), TRPV4(59341), NDUFS3(4722), CLN5(1203), NDUFV1(4723), NDUFS2(4720), TPP1(1200), CLN3(1201), IGHMBP2(3508), NDUFS6(4726), NDUFS4(4724), FASTKD2(22868), VRK1(7443), NDUFS8(4728), PMP22(5376), LDB3(11155)]
ABNORMAL NUMBER OF TEETH(HP:0006483)	[BBS5(129880), TRIM32(22954), RPS6KA3(6197), ATR(545), CLDN1(9076), ARL6(84100), CCBE1(147372), TBX3(6926), FLNA(2316), EDARADD(128178), FLNB(2317), EDA(1896), IKBKG(8517), ITGB4(3691), SH3BP2(6452), UBR1(197131), BBS9(27241), LAMB3(3914), LAMC2(3918), BCOR(54880), IRF6(3664), LRP5(4041), LAMA3(3909), MKS1(54903), GJA1(2697), RECQL4(9401), WNT10A(80326), RAB23(51715), CTSK(1513), MSX1(4487), ADAMTS2(9509), MKKS(8195), TRPS1(7227), WHCR(7467), INSR(3643), WHSC1(7468), COL17A1(1308), EVC2(132884), FGFR3(2261), CEP290(80184), BBS12(166379), CDH3(1001), RMRP(6023), APC(324), FGF10(2255), KCNJ2(3759), FGD1(2245), EDAR(10913), EVC(2121), TTC8(123016), PITX2(5308), BBS1(582), BBS2(583), TP63(8626), BBS4(585), PORCN(64840), RUNX2(860), BBS10(79738), OFD1(8481), BBS7(55212), PVRL1(5818)]
ABNORMAL OR ABSENT AUDITORY NERVE AND BRAINSTEM RESPONSES(HP:0004462)	[OPA1(4976)]
ABNORMAL OR EXCESS NEVI(HP:0003764)	[CD96(10225), CDK4(1019), HPS3(84343), PIK3CA(5290), FGFR3(2261), HPS5(11234), HPS1(3257), ROR2(4920), PTPN11(5781), SOS1(6654), PRKAR1A(5573), BLOC1S3(388552), HPS4(89781), KRT10(3858), HPS6(79803), DTNBP1(84062)]
ABNORMAL ORAL GLUCOSE TOLERANCE(HP:0004924)	[SLC5A1(6523)]
ABNORMAL OSSIFICATION INVOLVING METATARSAL BONES(HP:0008371)	[LRP5(4041), FLNA(2316)]
ABNORMAL OSSIFICATION INVOLVING THE BONES OF THE PELVIS(HP:0009106)	[LBR(3930), COL2A1(1280), RUNX2(860)]
ABNORMAL OSSIFICATION INVOLVING THE FEMORAL HEAD AND NECK(HP:0009107)	[LBR(3930), DYM(54808)]
ABNORMAL OSSIFICATION OF HAND BONES(HP:0005921)	[PTCH1(5727), NSD1(64324), FLNB(2317)]
ABNORMAL OSSIFICATION OF TARSAL BONES(HP:0008369)	[EBP(10682), MATN3(4148), HOXA13(3209), SLC35D1(23169), PTH1R(5745), EIF2AK3(9451), CANT1(124583)]
ABNORMAL OSSIFICATION OF THE PUBIC BONE(HP:0009105)	[COL2A1(1280), RUNX2(860)]
ABNORMAL PALMAR DERMATOGLYPHICS(HP:0001018)	[PEX19(5824), ABCD3(5825), EP300(2033), WHCR(7467), PEX2(5828), EHMT1(79813), WHSC1(7468), PEX5(5830), ATR(545), RPS6KA3(6197), GATA1(2623), CCBE1(147372), GDF5(8200), BRAF(673), B4GALT7(11285), DCR(1637), MAP2K1(5604), MED12(9968), MAP2K2(5605), NOG(9241), HRAS(3265), FGD1(2245), UBR1(197131), PEX26(55670), BMP4(652), VPS13B(157680), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), KRAS(3845), PEX3(8504), B3GALTL(145173), TFAP2A(7020), NIPBL(25836), SEMA3E(9723), LIFR(3977), OFD1(8481), CREBBP(1387), TPM2(7169), DPAGT1(1798), CHST3(9469), CHD7(55636)]
ABNORMAL PLATELET AGGREGATION(HP:0003540)	[JAK2(3717), VWF(7450), ITGB3(3690), P2RY12(64805), MPL(4352), ITGA2B(3674), TBXAS1(6916), PTGS1(5742), THPO(7066), KCNJ1(3758), RUNX1(861)]
ABNORMAL POSTURING(HP:0002533)	[TIMM8A(1678)]
ABNORMAL PROTHROMBIN CONSUMPTION(HP:0003337)	[F11(2160)]
ABNORMAL PUPILLARY LIGHT REFLEXES(HP:0007695)	[SH3TC2(79628)]
ABNORMAL RAPID EYE MOVEMENT (REM) SLEEP(HP:0002494)	[HCRT(3060)]
ABNORMAL REGULATION OF FAT TISSUE METABOLISM(HP:0004361)	[BSCL2(26580), AGPAT2(10555)]
ABNORMAL RESPIRATORY PATTERNS(HP:0002793)	[NDUFS7(374291), TSPYL1(7259), SDHA(6389), DLD(1738), BCS1L(617), SURF1(6834), NDUFS3(4722), NDUFV1(4723), COX15(1355), NDUFS4(4724), NDUFA2(4695), NDUFS8(4728), C8orf38(137682)]
ABNORMAL RETINAL FOLDS(HP:0008052)	[NDP(4693), FZD4(8322), LRP5(4041)]
ABNORMAL RETINAL PIGMENTATION(HP:0007703)	[TRIM37(4591), TSC1(7248), TSC2(7249)]
ABNORMAL ROD AND CONE ELECTRORETINOGRAMS(HP:0008323)	[PDE6B(5158)]
ABNORMAL SIZE OF CORPUS CALLOSUM(HP:0200009)	[VPS13B(157680)]
ABNORMAL SIZE OF THE PALPEBRAL FISSURES(HP:0200007)	[MYCN(4613), HSPG2(3339), TBX15(6913), ATR(545), RAPSN(5913), SALL4(57167), MYH3(4621), STRA6(64220), ERCC6(2074), PAX3(5077), ZMPSTE24(10269), SOX9(6662), DGCR(1714), PHF6(84295), GPC6(10082), KCNJ2(3759), BCOR(54880), TBX1(6899), TP63(8626), ROR2(4920), LIFR(3977), FOXL2(668), GJA1(2697), DOK7(285489), MOGS(7841), RECQL4(9401)]
ABNORMAL SUBCUTANEOUS FAT TISSUE DISTRIBUTION(HP:0007552)	[PMM2(5373)]
ABNORMAL TENDENCY TO INFECTIONS OF THE SKIN(HP:0002727)	[BTD(686), MEFV(4210), CCBE1(147372), BTK(695), CFI(3426)]
ABNORMAL THICKNESS OF CORPUS CALLOSUM(HP:0200010)	[SPG11(80208), MAPK10(5602), TREM2(54209), TYROBP(7305), PTEN(5728)]
ABNORMAL URINARY AMINO-ACID FINDINGS(HP:0003355)	[GUCY2D(3000)]
ABNORMAL VESTIBULOOCULAR REFLEX(HP:0007670)	[MYO7A(4647), AAAS(8086), CACNA1A(773)]
ABNORMAL VISUAL PURSUIT(HP:0008029)	[TSEN54(283989)]
ABNORMAL WEAKNESS OF MUSCLES OF RESPIRATION(HP:0004347)	[COLQ(8292), TK2(7084), CHRNA1(1134), PLEKHG5(57449), CHAT(1103), CPOX(1371), COX6B1(1340), RAPSN(5913), POLG(5428), MUSK(4593), COL6A1(1291), CRYAB(1410), HMBS(3145), COL6A2(1292), FASTKD2(22868), CHRNE(1145), COL6A3(1293), CHRND(1144), ACTA1(58), CHRNB1(1140), ALAD(210), NEB(4703)]
ABNORMAL, JERKY EYE MOVEMENTS(HP:0000628)	[TMEM216(51259), INPP5E(56623)]
ABNORMALITIES OF DENTAL ERUPTION(HP:0006292)	[TNFSF11(8600), TRPS1(7227), INSR(3643), ZEB2(9839), ERCC8(1161), FGFR1(2260), CCBE1(147372), NSD1(64324), EVC2(132884), FGFR3(2261), VDR(7421), FGFR2(2263), ERCC6(2074), KRT17(3872), ZMPSTE24(10269), FLNA(2316), GLI3(2737), IDS(3423), IKBKG(8517), APC(324), FGF10(2255), DSP(1832), CYP27B1(1594), MAPK10(5602), KCNJ2(3759), EVC(2121), KRT6B(3854), GNAS(2778), BCOR(54880), SEC23A(10484), PORCN(64840), ROR2(4920), NIPBL(25836), RUNX2(860), MKS1(54903), FAM123B(139285), MMP2(4313), GJA1(2697), RECQL4(9401), CHST3(9469), PTH1R(5745), RAB23(51715), CTSK(1513)]
ABNORMALITIES OF PLACENTA AND UMBILICAL CORD(HP:0001194)	[MKS1(54903), HOXD13(3239), DOK7(285489), RAPSN(5913), POR(5447), WNT3(7473), ZMPSTE24(10269)]
ABNORMALITIES OF RENIN-ANGIOTENSIN SYSTEM(HP:0000847)	[SLC12A3(6559), SLC12A1(6557), CLCNKB(1188), KCNJ1(3758)]
ABNORMALITIES OF THE AORTA(HP:0001679)	[FBN1(2200), FBN2(2201), HCCS(3052), EFEMP2(30008), TGFBR1(7046), LOX(4015), STRA6(64220), FGFR2(2263), FLNB(2317), GLI3(2737), COL5A2(1290), MED12(9968), MYH11(4629), HGD(3081), DHCR7(1717), COL5A1(1289), DGCR(1714), FBLN5(10516), TBX1(6899), MKS1(54903), GBA(2629), CRELD1(78987), COL1A2(1278), COL1A1(1277), JAG1(182)]
ABNORMALITIES OF THE CEREBRAL ARTERIES(HP:0009145)	[JAK2(3717), SMARCAL1(50485), APP(351), GAA(2548), TGFBR1(7046), COL3A1(1281), PKD2(5311), PKD1(5310)]
ABNORMALITIES OF THE CLOTTING FACTORS(HP:0003256)	[LMAN1(3998), F8(2157), MCFD2(90411), F5(2153)]
ABNORMALITIES OF THE COSTOCHONDRAL JUNCTION(HP:0000919)	[NOG(9241), CYP27B1(1594), SBDS(51119), SLC34A3(142680), ALPL(249), DYM(54808), FGFR3(2261), VDR(7421), DDR2(4921), CYP2R1(120227), CTNS(1497)]
ABNORMALITIES OF THE PERIPHERAL ARTERIES(HP:0005114)	[ELN(2006), ABCC6(368), AGXT(189), APOE(348)]
ABNORMALITIES OF THE VERTEBRAE(HP:0003468)	[FKRP(79147), GUSB(2990), NPR2(4882), ATRX(546), SALL4(57167), GLI3(2737), IKBKG(8517), NOG(9241), MATN3(4148), PAPSS2(9060), PTCH1(5727), IHH(3549), GNPTAB(79158), GLB1(2720), SC5DL(6309), CHRNA1(1134), GPC3(2719), CRTAP(10491), SEC23A(10484), AIP(9049), LRP5(4041), PEX7(5191), B3GALTL(145173), UROS(7390), ROR2(4920), DDR2(4921), GJA1(2697), CHRNG(1146), CHRND(1144), POR(5447), VANGL1(81839), NAGLU(4669), TNFRSF11A(8792), MAN2B1(4125), ATP7A(538), TRAPPC2(6399), COMP(1311), FGFR1(2260), FGFR3(2261), COL9A1(1297), OCRL(4952), FGFR2(2263), COL11A2(1302), COL11A1(1301), SLC26A2(1836), GNS(2799), SBDS(51119), COL2A1(1280), FUCA1(2517), CBS(875), GDF6(392255), ACVR1(90), FOXC2(2303), ADA(100), TRIP11(9321), EBP(10682), TRPV4(59341), DLL3(10683), CUL7(9820), CHD7(55636), ARSB(411), TBX15(6913), FLNA(2316), PLOD2(5352), FLNB(2317), SGSH(6448), SOX2(6657), SLC35D1(23169), TCIRG1(10312), AGA(175), GALNS(2588), LBR(3930), GNPAT(8443), COL1A2(1278), RECQL4(9401), ACAN(176), COL1A1(1277), JAG1(182), HSPG2(3339), WHCR(7467), SQSTM1(8878), WHSC1(7468), MMP13(4322), PAX3(5077), MED12(9968), RMRP(6023), HGD(3081), DYM(54808), SH3PXD2B(285590), SMARCAL1(50485), HGSNAT(138050), SOST(50964), WISP3(8838), SEMA3E(9723), EIF2AK3(9451), MMP2(4313), GORAB(92344), GBA(2629), ALPL(249), CHST3(9469), LEPRE1(64175)]
ABNORMALITY INVOLVING THE DIAPHYSES OF THE LIMBS(HP:0006504)	[LBR(3930), ANO5(203859), FLNA(2316)]
ABNORMALITY INVOLVING THE EPIPHYSES OF THE LIMBS(HP:0006505)	[TRAPPC2(6399), HSPG2(3339), RET(5979), TBX4(9496), TRPS1(7227), WHCR(7467), NPR2(4882), WHSC1(7468), ATR(545), ERCC8(1161), EVC2(132884), FGFR3(2261), GDF5(8200), MGP(4256), ERCC6(2074), COL11A2(1302), COL11A1(1301), FLNA(2316), SLC26A2(1836), RMRP(6023), MATN3(4148), SBDS(51119), DYM(54808), COL2A1(1280), IHH(3549), EVC(2121), SMARCAL1(50485), ADAMTSL2(9719), SALL1(6299), PCNT(5116), WISP3(8838), EIF2AK3(9451), RUNX2(860), GNPAT(8443), GNPTG(84572), ACAN(176), BMPR1B(658)]
ABNORMALITY INVOLVING THE EPIPHYSES OF THE LOWER LIMBS(HP:0006500)	[SMARCAL1(50485), TRAPPC2(6399), HSPG2(3339), RET(5979), TBX4(9496), TRPS1(7227), ADAMTSL2(9719), PCNT(5116), WISP3(8838), COL11A2(1302), COL11A1(1301), SLC26A2(1836), SBDS(51119), MATN3(4148), DYM(54808), GNPTG(84572), ACAN(176), COL2A1(1280), IHH(3549)]
ABNORMALITY INVOLVING THE EPIPHYSES OF THE UPPER LIMBS(HP:0003839)	[TRPS1(7227), WHCR(7467), SALL1(6299), NPR2(4882), WHSC1(7468), PCNT(5116), ATR(545), ERCC8(1161), FGFR3(2261), EVC2(132884), MGP(4256), GDF5(8200), ERCC6(2074), FLNA(2316), EIF2AK3(9451), RUNX2(860), RMRP(6023), GNPAT(8443), DYM(54808), COL2A1(1280), IHH(3549), EVC(2121), BMPR1B(658)]
ABNORMALITY INVOLVING THE METAPHYSES OF THE LIMBS(HP:0006506)	[FGFR3(2261)]
ABNORMALITY OF ACID-BASE METABOLISM(HP:0004360)	[CPT1A(1374), SUCLG1(8802), CPS1(1373), FBP1(2203), AUH(549), MMAA(166785), MCCC1(56922), SLC7A7(9056), COX15(1355), COQ2(27235), TYMP(1890), GYS2(2998), UQCRB(7381), TK2(7084), ACADM(34), ACADS(35), MRPS22(56945), ATP6V1B1(525), NEUROG3(50674), GK(2710), SURF1(6834), C10orf2(56652), SCO2(9997), C20orf7(79133), SLC12A3(6559), DBT(1629), MPV17(4358), SLC12A1(6557), UMPS(7372), PUS1(80324), NDUFS7(374291), PDHA1(5160), FH(2271), SDHA(6389), OCRL(4952), BCS1L(617), POLG(5428), TSFM(10102), PDP1(54704), PDSS2(57107), BSND(7809), NDUFA1(4694), NDUFA2(4695), PDSS1(23590), KCNJ1(3758), CYP17A1(1586), C8orf38(137682), SLC37A4(2542), COX6B1(1340), G6PC(2538), ARG1(383), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), SLC26A3(1811), TAZ(6901), BCKDHA(593), WNK1(65125), NDUFS3(4722), NDUFV1(4723), DPYS(1807), HADHB(3032), NDUFS2(4720), BCKDHB(594), NDUFS6(4726), IVD(3712), FASTKD2(22868), NDUFS4(4724), OGDH(4967), SCNN1G(6340), HPD(3242), NDUFS8(4728), HADHA(3030), SDHAF1(644096), MLYCD(23417), SCNN1B(6338), HSD17B10(3028), BTD(686), SLC4A4(8671), LCT(3938), NDUFAF2(91942), OTC(5009), HMGCL(3155), CTNS(1497), GALT(2592), UQCRQ(27089), HLCS(3141), FN1(2335), LRPPRC(10128), NDUFAF3(25915), ASS1(445), DLAT(1737), ASL(435), DLD(1738), PNPO(55163), INVS(27130), GFM1(85476), PDHX(8050), MRPS16(51021), ETHE1(23474), ISCU(23479), MUT(4594), DGUOK(1716), CA2(760), SLC17A3(10786), GSS(2937), SLC4A1(6521), SLC5A1(6523), COQ9(57017), MMAB(326625), CLCNKB(1188), ALDOB(229), MMACHC(25974), WNK4(65266), PCCB(5096), MCEE(84693), APTX(54840), PC(5091), NR3C1(2908), PCCA(5095), CABC1(56997), GCDH(2639)]
ABNORMALITY OF ADIPOSE TISSUE(HP:0009124)	[PPP1R3A(5506), BSCL2(26580), FBN1(2200), LMNB2(84823), PPARG(5468), INSR(3643), LMNA(4000), ERCC8(1161), AGPAT2(10555), ERCC6(2074), ZMPSTE24(10269)]
ABNORMALITY OF ALDOSTERONE PRODUCTION(HP:0002855)	[CLCNKB(1188), LHX4(89884), SLC26A3(1811), HSD11B2(3291), PROP1(5626), AIRE(326), BSND(7809), SLC12A1(6557), SCNN1G(6340), KCNJ1(3758), CYP11B2(1585), SCNN1B(6338), CYP11B1(1584)]
ABNORMALITY OF ALKALINE PHOSPHATASE ACTIVITY(HP:0004379)	[VCP(7415), PRKCSH(5589), PHEX(5251), SQSTM1(8878), SLC39A4(55630), SOST(50964), AKR1D1(6718), VDR(7421), FGF23(8074), CYP2R1(120227), CSF3R(1441), CYP27B1(1594), SLC2A2(6514), ALPL(249), SLC34A3(142680), SEC63(11231), ABCB11(8647), TNFRSF11A(8792), PTH1R(5745), TCIRG1(10312), SC5DL(6309)]
ABNORMALITY OF AMINO ACID METABOLISM(HP:0004337)	[AMT(275), PDHA1(5160), MMADHC(27249), MMAA(166785), PRODH(5625), LMBRD1(55788), MAT1A(4143), OTC(5009), ALDH4A1(8659), MUT(4594), FAH(2184), GPHN(10243), GLDC(2731), GNMT(27232), MTHFR(4524), GUCY2D(3000), AASS(10157), MOCS2(4338), MOCS1(4337), PAH(5053), GCH1(2643), MMAB(326625), ASS1(445), TNFRSF11B(4982), DECR1(1666), ASL(435), DLD(1738), GCSH(2653), ETFDH(2110), MMACHC(25974), ETFB(2109), ETFA(2108), PCCB(5096), BCKDHA(593), BCKDHB(594), DBT(1629), AHCY(191), MTRR(4552), HPD(3242), PDHX(8050), MTR(4548), PC(5091), SUOX(6821), PCBD1(5092), PCCA(5095)]
ABNORMALITY OF AMMONIA METABOLISM(HP:0004364)	[SLC25A15(10166), BTD(686), CPS1(1373), MMAA(166785), GLUD1(2746), NAGS(162417), MCCC1(56922), HMGCL(3155), OTC(5009), MUT(4594), SLC22A5(6584), SLC7A7(9056), IKBKAP(8518), HLCS(3141), CFH(3075), MMAB(326625), SLC25A20(788), ASS1(445), ARG1(383), ASL(435), INVS(27130), PCCB(5096), ADAMTS13(11093), CPT2(1376), PCCA(5095)]
ABNORMALITY OF B-CELLS(HP:0002846)	[CD40(958), CD40LG(959), ERCC2(2068), SPINK5(11005), SH2D1A(4068), ERCC3(2071), SETX(23064), CIITA(4261), B2M(567), BTK(695), PMM2(5373), TCN2(6948), SP110(3431), BLM(641), IL2RG(3561), RFX5(5993), GTF2H5(404672), RFXAP(5994), ELANE(1991), UNG(7374), ICOS(29851), MAN2B1(4125), ATM(472), TNFRSF13B(23495), NBN(4683), MVK(4598), HBG1(3047), RAG2(5897), RAG1(5896), CNBP(7555), ADA(100), KRT1(3848), SFTPA2(729238), DCLRE1C(64421), ROBLD3(28956), PSG1(5669), RFXANK(8625), AICDA(57379), PCCB(5096), KLHDC8B(200942), KRT16(3868), WAS(7454), FAS(355), PNP(4860), CASP10(843), CXCR4(7852), CASP8(841), KRT9(3857), PCCA(5095)]
ABNORMALITY OF B-VITAMIN METABOLISM(HP:0004340)	[TTR(7276), MMAB(326625), MMADHC(27249), MMAA(166785), MTRR(4552), MCEE(84693), MTR(4548), LMBRD1(55788), MMACHC(25974), MUT(4594)]
ABNORMALITY OF BODY HEIGHT(HP:0000002)	[FBN1(2200), RET(5979), FBN2(2201), ATRX(546), NPR2(4882), ATR(545), TGFBR1(7046), AVPR2(554), H19(283120), TGFB1(7040), DCR(1637), SLC35C1(55343), KCNQ1OT1(10984), THRB(7068), HRAS(3265), ADAMTS10(81794), FANCD2(2177), FANCC(2176), CTSA(5476), PPIB(5479), FANCE(2178), UBR1(197131), GNPTAB(79158), GLB1(2720), GPC3(2719), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), DDR2(4921), SLC6A8(6535), MCPH1(79648), GTF2H5(404672), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), SLC12A1(6557), GHSR(2693), GH1(2688), ATP7A(538), GHR(2690), ZEB2(9839), FGFR1(2260), FGFR3(2261), GDF5(8200), OCRL(4952), FGFR2(2263), FGF23(8074), CDKN1C(1028), AAAS(8086), SOS1(6654), SBDS(51119), UROC1(131669), FGD1(2245), KCNJ1(3758), CYP19A1(1588), GDF6(392255), CYP11B1(1584), FOXC2(2303), HPRT1(3251), GNAS(2778), TRIP11(9321), TNFRSF11B(4982), TNNI2(7136), TNNT3(7140), NIPBL(25836), TRPV4(59341), KDM5C(8242), HOXD13(3239), CUL7(9820), GNPTG(84572), SMS(6611), SDHAF1(644096), MLYCD(23417), SMPD1(6609), ERCC2(2068), TBX15(6913), ERCC3(2071), GATA1(2623), STRA6(64220), ERCC6(2074), BRAF(673), B4GALT7(11285), MAP2K1(5604), MAP2K2(5605), BUB1B(701), BTK(695), DNMT3B(1789), AGA(175), BCOR(54880), GALNS(2588), DKC1(1736), GNPAT(8443), COL1A2(1278), AGL(178), RECQL4(9401), ZNF469(84627), ACAN(176), COL1A1(1277), RAB3GAP1(22930), BMPR1B(658), GJB6(10804), EXT2(2132), SEPT9(10801), INSR(3643), EXT1(2131), ERCC8(1161), MVK(4598), MED12(9968), RMRP(6023), CA2(760), DHCR7(1717), DGCR(1714), WRN(7486), DYM(54808), WNT7A(7476), EVC(2121), SMARCAL1(50485), SHH(6469), CLCN5(1184), PCNT(5116), VLDLR(7436), SOST(50964), ROBLD3(28956), FANCA(2175), ALDOA(226), EIF2AK3(9451), SHOX(6473), ALDH3A2(224), PCCB(5096), GORAB(92344), GBA(2629), ALPL(249), CHST3(9469), PCCA(5095), LEPRE1(64175), GUSB(2990), MYH3(4621), AGPS(8540), NSD1(64324), SLC6A19(340024), ESCO2(157570), IKBKG(8517), MYH8(4626), MATN3(4148), PAPSS2(9060), IHH(3549), MC2R(4158), CANT1(124583), SEPN1(57190), PEX7(5191), LRP5(4041), UROS(7390), PTEN(5728), CREBBP(1387), SIL1(64374), ATP8B1(5205), RAB23(51715), PTH1R(5745), ADAMTS2(9509), TRAPPC2(6399), COMP(1311), HCCS(3052), COL9A3(1299), COL9A2(1298), EVC2(132884), SDHA(6389), NBN(4683), MECP2(4204), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), COL5A2(1290), COL6A1(1291), SPG20(23111), CUL4B(8450), COL5A1(1289), PHF6(84295), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), IGF1R(3480), COL2A1(1280), FUCA1(2517), COL3A1(1281), CBS(875), PQBP1(10084), NEB(4703), BSCL2(26580), TBCE(6905), SLC37A4(2542), VPS13B(157680), SLC39A4(55630), G6PC(2538), TBX1(6899), PORCN(64840), LIFR(3977), RUNX2(860), DLL3(10683), OFD1(8481), AQP2(359), ALMS1(7840), CASP8(841), ARSB(411), PLOD1(5351), EP300(2033), ARSE(415), TWIST1(7291), LARGE(9215), RPS6KA3(6197), FLNA(2316), PLOD2(5352), CTNS(1497), FLNB(2317), IDS(3423), SOX9(6662), SOX2(6657), NF1(4763), NSDHL(50814), SLC35D1(23169), ABCB11(8647), AASS(10157), NEU1(4758), LBR(3930), MBTPS2(51360), CTSK(1513), MGAT2(4247), PLEC(5339), CTDP1(9150), HSPG2(3339), TRPS1(7227), CD96(10225), ATM(472), PTPN11(5781), L1CAM(3897), TRH(7200), ADAMTSL2(9719), PHEX(5251), HYAL1(3373), TP63(8626), KRAS(3845), EFNB1(1947), MMP2(4313), TPM2(7169), AGPAT2(10555)]
ABNORMALITY OF BODY WEIGHT(HP:0004323)	[ATRX(546), BBS5(129880), MYH3(4621), ANCR(282), H19(283120), SLC7A7(9056), PDE11A(50940), NPHS1(4868), CDKL5(6792), FANCD2(2177), FANCC(2176), TYMP(1890), FANCE(2178), EMG1(10436), UBR1(197131), BBS9(27241), CANT1(124583), PPARG(5468), SEPN1(57190), LRP5(4041), NEUROG3(50674), B3GALTL(145173), SLC6A8(6535), MCPH1(79648), ABCC8(6833), VSX1(30813), GTF2H5(404672), SLC9A6(10479), GJA1(2697), SLC12A1(6557), POR(5447), ALDH5A1(7915), FST(10468), RAB23(51715), ACTB(60), MKKS(8195), KCNJ11(3767), SNRPN(6638), PDHA1(5160), RAPSN(5913), INPP5E(56623), MECP2(4204), BBS12(166379), POLG(5428), CUL4B(8450), NDN(4692), IGF1(3479), SBDS(51119), KCNJ1(3758), IGF1R(3480), UBE3A(7337), HCRT(3060), TTC8(123016), GNAS(2778), VPS13B(157680), MC4R(4160), BBS1(582), BBS2(583), TBX1(6899), BBS4(585), PCSK1(5122), BBS10(79738), SNCA(6622), HADHB(3032), LIPA(3988), BBS7(55212), IGHMBP2(3508), DOK7(285489), ALMS1(7840), CUL7(9820), HADHA(3030), SMPD1(6609), PRNP(5621), ERCC2(2068), TRIM32(22954), ERCC3(2071), RPS6KA3(6197), ARL6(84100), TBX3(6926), ERCC6(2074), BUB1B(701), NR0B2(8431), TSHR(7253), MKS1(54903), PRKAR1A(5573), JPH3(57338), COL1A1(1277), MRPS16(51021), WHCR(7467), EHMT1(79813), INSR(3643), WHSC1(7468), FZD4(8322), CEP290(80184), INS(3630), DGCR(1714), SLC2A2(6514), NME1(4830), GCK(2645), PCNT(5116), FANCA(2175), GBA(2629), SIM1(6492)]
ABNORMALITY OF BONE MINERAL DENSITY(HP:0004348)	[FBN1(2200), AVP(551), FBN2(2201), SALL4(57167), AGPS(8540), LMBR1(64327), VDR(7421), HSD17B4(3295), TGFB1(7040), FAH(2184), ESCO2(157570), PDE11A(50940), SLC7A7(9056), THRB(7068), PAPSS2(9060), MATN3(4148), PTCH1(5727), FANCD2(2177), FANCC(2176), IHH(3549), FANCE(2178), GLB1(2720), SC5DL(6309), CANT1(124583), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), CRTAP(10491), PEX1(5189), AIP(9049), SEC23A(10484), PEX7(5191), LRP5(4041), GK(2710), PTEN(5728), UROS(7390), DDR2(4921), FSHR(2492), GJA1(2697), SLC17A5(26503), SLC12A1(6557), ATP7B(540), NAGA(4668), PTH1R(5745), NAGLU(4669), TNFRSF11A(8792), ADAMTS2(9509), ATP7A(538), SNRPN(6638), ENPP1(5167), COMP(1311), LMNA(4000), COL9A3(1299), FGFR3(2261), OCRL(4952), GDF5(8200), FGF23(8074), CYP2R1(120227), SLC26A2(1836), FGF10(2255), NDN(4692), CYP27B1(1594), IGF1(3479), CECR(1055), CYP27A1(1593), SBDS(51119), LEMD3(23592), HOXA13(3209), KCNJ1(3758), COL2A1(1280), CBS(875), COL3A1(1281), PEX26(55670), TBCE(6905), GNAS(2778), SLC37A4(2542), TRIP11(9321), TNFRSF11B(4982), G6PC(2538), PEX3(8504), LIFR(3977), RUNX2(860), EBP(10682), TRPV4(59341), WNK1(65125), FAM123B(139285), HOXD13(3239), ALMS1(7840), CTSC(1075), SMS(6611), SMPD1(6609), PEX19(5824), ABCD3(5825), PLOD1(5351), TBXAS1(6916), PEX2(5828), ARSE(415), PEX5(5830), RPS6KA3(6197), MGP(4256), ERCC6(2074), BRAF(673), FLNA(2316), B4GALT7(11285), PLOD2(5352), CTNS(1497), FLNB(2317), MAP2K1(5604), SGSH(6448), MAP2K2(5605), SLC35D1(23169), NSDHL(50814), PMM2(5373), NEU1(4758), ANO5(203859), ASPA(443), GALNS(2588), DKC1(1736), LBR(3930), PRKAR1A(5573), DLX3(1747), MIPOL1(145282), GNPAT(8443), COL1A2(1278), RECQL4(9401), COL1A1(1277), CTSK(1513), RAB3GAP1(22930), DMP1(1758), MGAT2(4247), TNFSF11(8600), HSPG2(3339), TRPS1(7227), WHCR(7467), CD96(10225), SQSTM1(8878), WHSC1(7468), GGCX(2677), ERCC8(1161), ZMPSTE24(10269), DHCR24(1718), MED12(9968), RMRP(6023), CA2(760), WRN(7486), SLC2A2(6514), FAM20C(56975), DYM(54808), WNT7A(7476), SLC4A1(6521), HFE(3077), SMARCAL1(50485), ADAMTSL2(9719), CLCN7(1186), CLCN5(1184), HGSNAT(138050), PHEX(5251), STAT3(6774), SOST(50964), FANCA(2175), KRAS(3845), SUMF1(285362), EIF2AK3(9451), PCCB(5096), ANTXR2(118429), MMP2(4313), GORAB(92344), SLC34A3(142680), ALPL(249), PCCA(5095), LEPRE1(64175)]
ABNORMALITY OF CALCIUM METABOLISM(HP:0004363)	[RET(5979)]
ABNORMALITY OF CARBOXYLIC ACID METABOLISM(HP:0004354)	[ACADM(34), GPHN(10243), HADHB(3032), HADH(3033), ACADL(33), ACAD9(28976), ACADVL(37), CPT2(1376), MOCS2(4338), MOCS1(4337)]
ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665)	[SCN5A(6331), CPT1A(1374), RET(5979), FBP1(2203), DMPK(1760), CPOX(1371), SCN9A(6335), PPOX(5498), ERCC6(2074), ANK2(287), TGFB3(7043), DNAJC19(131118), TTR(7276), THRB(7068), HMBS(3145), TTN(7273), NPPA(4878), HCN4(10021), FMO3(2328), NKX2-5(1482), GLA(2717), PKP2(5318), SLC25A20(788), GPC3(2719), ACADL(33), KIF1B(23095), TSPYL1(7259), ACADVL(37), EMD(2010), TSHR(7253), PEX7(5191), TSC1(7248), TSC2(7249), CACNA1C(775), GJA5(2702), KCNE2(9992), AGXT(189), CSRP3(8048), KCNQ1(3784), LAMP2(3920), DMD(1756), CPT2(1376), ISCU(23479), RYR2(6262), MYBPC3(4607), HCCS(3052), LMNA(4000), SDHD(6392), ERCC8(1161), SDHC(6391), SDHB(6390), MECP2(4204), KCTD7(154881), PRKAG2(51422), PTPN11(5781), DSP(1832), KCNJ2(3759), DSG2(1829), KCNH2(3757), DSC2(1824), HFE(3077), KCNE1(3753), FOXC2(2303), CNBP(7555), JUP(3728), GNAI2(2771), DES(1674), VHL(7428), PHYH(5264), GAA(2548), PAX8(7849)]
ABNORMALITY OF CARPAL BONE OSSIFICATION(HP:0006257)	[TRPV4(59341), RMRP(6023), GPC3(2719), MATN3(4148), HOXA13(3209), SLC35D1(23169), PTH1R(5745), IHH(3549), CANT1(124583)]
ABNORMALITY OF CARTILAGE(HP:0002763)	[ABCD3(5825), PEX2(5828), COL2A1(1280), PTH1R(5745)]
ABNORMALITY OF CD4+ T CELLS(HP:0005480)	[CD40LG(959), CASP8(841), IL2RG(3561)]
ABNORMALITY OF CD8+ T CELLS(HP:0005481)	[CD8A(925), RAG2(5897), ATM(472), RAG1(5896), IL2RG(3561)]
ABNORMALITY OF CEREBROSIDASE METABOLISM(HP:0004344)	[GBA(2629)]
ABNORMALITY OF CHOLESTEROL METABOLISM(HP:0003107)	[RET(5979), PEX2(5828), MMAA(166785), MMADHC(27249), APOB(338), LMNA(4000), LDLR(3949), APOA2(336), SDHD(6392), SDHB(6390), OCRL(4952), DHCR24(1718), ABCA1(19), LPL(4023), DHCR7(1717), NPC2(10577), NPC1(4864), ALAS2(212), NSDHL(50814), PMM2(5373), PEX26(55670), SC5DL(6309), PPARG(5468), MMAB(326625), ABCG8(64241), ABCG5(64240), KIF1B(23095), PEX1(5189), PHKA2(5256), MMACHC(25974), VHL(7428), EBP(10682), LCAT(3931), PPP1R3A(5506), LBR(3930), LIPA(3988), ALMS1(7840), APTX(54840), JAG1(182), SMPD1(6609)]
ABNORMALITY OF COAGULATION(HP:0001928)	[SLC25A15(10166), P2RY12(64805), TBXAS1(6916), SERPINF2(5345), GATA1(2623), CD36(948), HPS5(11234), PROC(5624), DPM1(8813), FLNA(2316), ITGB3(3690), FAH(2184), BLOC1S3(388552), FANCD2(2177), UQCRQ(27089), FANCC(2176), PMM2(5373), FANCE(2178), UQCRB(7381), PRKCSH(5589), SERPINE1(5054), ITGA2B(3674), PTGS1(5742), AKR1D1(6718), C10orf2(56652), MPV17(4358), ACP2(53), SEC63(11231), HPS6(79803), MGAT2(4247), GP1BA(2811), SERPIND1(3053), GP9(2815), GP1BB(2812), GGCX(2677), B4GALT1(2683), ALG6(29929), BCS1L(617), AMACR(23600), PTPN11(5781), MPI(4351), SERPINC1(462), DGUOK(1716), FGB(2244), FGA(2243), DTNBP1(84062), F13B(2165), F13A1(2162), F12(2161), G6PC(2538), F11(2160), HPS3(84343), FANCA(2175), HPS1(3257), MCFD2(90411), VWF(7450), FCGR2C(9103), F2(2147), HPS4(89781), LMAN1(3998), F9(2158), F10(2159), F8(2157), F7(2155), F5(2153)]
ABNORMALITY OF COCHLEA(HP:0000375)	[SLC26A4(5172), EYA1(2138)]
ABNORMALITY OF COGNITION(HP:0002302)	[PRNP(5621), AMN(81693), VCP(7415), MAPT(4137), SPG7(6687), SPAST(6683), ATXN7(6314), CP(1356), PDE11A(50940), LRRK2(120892), TTR(7276), NPC2(10577), ATXN3(4287), CUBN(8029), NPC1(4864), ATXN2(6311), VPS13A(23230), IRF6(3664), TSC1(7248), PRKAR1A(5573), JPH3(57338), PRKCG(5582), ATP7B(540), OPA3(80207), DBH(1621), UCHL1(7345), ATP1A2(477), ERCC8(1161), APP(351), POLG(5428), NHLRC1(378884), HTT(3064), PSAP(5660), PINK1(65018), PPT1(5538), PSEN1(5663), ATXN10(25814), NDP(4693), CYP27A1(1593), TREM2(54209), COL4A1(1282), HEXA(3073), EPM2A(7957), CFH(3075), FTL(2512), ITM2B(9445), CHMP2B(25978), ATN1(1822), PPP2R2B(5521), TBP(6908), TIMM8A(1678), ATP13A2(23400), MMACHC(25974), CST3(1471), GM2A(2760), SNCA(6622), PANK2(80025), GRN(2896), CLN3(1201), SNCB(6620), GBA(2629), TYROBP(7305), APTX(54840), NOTCH3(4854)]
ABNORMALITY OF COMPLEMENT(HP:0005339)	[LMNB2(84823), CFP(5199), C8A(731), C8B(732), CFH(3075), CFI(3426), CFD(1675)]
ABNORMALITY OF CONNECTIVE TISSUE(HP:0003549)	[FBN1(2200), PLCE1(51196), SCN9A(6335), CCBE1(147372), ERCC6(2074), NPHS1(4868), SH3BP2(6452), FLT4(2324), UBR1(197131), ANO5(203859), GLA(2717), FECH(2235), PPARG(5468), LAMB2(3913), MRPS22(56945), SOX18(54345), AIP(9049), CYBA(1535), LAMA2(3908), MLC1(23209), NAGA(4668), COL1A1(1277), TCAP(8557), MRPS16(51021), TRPS1(7227), INSR(3643), LMNA(4000), NPHS2(7827), ERCC8(1161), MVK(4598), ZMPSTE24(10269), NCF2(4688), PTPN11(5781), MED12(9968), SOS1(6654), NCF1(653361), TREM2(54209), TMPRSS15(5651), ACVR1(90), BSCL2(26580), LMNB2(84823), FOXC2(2303), NLRP3(114548), WISP3(8838), CYBB(1536), PPP1R3A(5506), GBA(2629), AGPAT2(10555), TYROBP(7305)]
ABNORMALITY OF CORNEAL SIZE OR SHAPE(HP:0001120)	[CTDP1(9150), HSPG2(3339), FBN2(2201), FKRP(79147), PLOD1(5351), NHS(4810), TINF2(26277), LARGE(9215), TBX15(6913), ERCC6(2074), LMX1B(4010), GUCY2D(3000), COL3A1(1281), POMT1(10585), GNPTAB(79158), PITX2(5308), BEST1(7439), BCOR(54880), NIPBL(25836), VSX1(30813), FOXL2(668), FKTN(2218), GJA8(2703), GJA1(2697), RPE65(6121), RECQL4(9401), ZNF469(84627), RAB23(51715), KIAA1279(26128), RAB3GAP1(22930), POMT2(29954)]
ABNORMALITY OF CORTICAL BONE(HP:0003103)	[FBN1(2200), CLCN5(1184), CYP27B1(1594), SOST(50964), ADAMTS10(81794), SLC34A3(142680), SH3PXD2B(285590), VDR(7421), LRP5(4041), LIFR(3977), CYP2R1(120227), TGFB1(7040)]
ABNORMALITY OF CORTISOL PRODUCTION(HP:0002717)	[STAR(6770), CYP11A1(1583), RET(5979), GNAS(2778), LHX4(89884), PCSK1(5122), GLI3(2737), PROP1(5626), AAAS(8086), PDE11A(50940), PRKAR1A(5573), NR0B1(190), CYP21A2(1589), MEN1(4221), CYP17A1(1586), CYP11B1(1584)]
ABNORMALITY OF DECIDUOUS TEETH(HP:0006481)	[ADAMTS2(9509)]
ABNORMALITY OF DENTAL ENAMEL(HP:0000682)	[EP300(2033), KLK4(9622), CLDN1(9076), ATR(545), FGFR3(2261), OCRL(4952), VDR(7421), FGF23(8074), FLNB(2317), AIRE(326), ITGB4(3691), FGF10(2255), COL7A1(1294), CYP27B1(1594), KL(9365), KCNJ2(3759), AMELX(265), GLB1(2720), LAMB3(3914), GNAS(2778), PHEX(5251), LAMC2(3918), PCNT(5116), GALNS(2588), PORCN(64840), GALNT3(2591), TSC1(7248), TSC2(7249), ALDH3A2(224), RUNX2(860), LAMA3(3909), ENAM(10117), OFD1(8481), DLX3(1747), GJA1(2697), MBTPS2(51360), CREBBP(1387), CNNM4(26504), PLEC(5339), ITGA6(3655)]
ABNORMALITY OF DENTAL MORPHOLOGY(HP:0006482)	[FBN1(2200), TRPS1(7227), NHS(4810), NHP2(55651), FGF23(8074), EDARADD(128178), EYA1(2138), EDA(1896), CDH3(1001), FGF3(2248), DSPP(1834), KL(9365), ADAMTS10(81794), AMELX(265), EDAR(10913), EVC(2121), SMARCAL1(50485), NOP10(55505), TP63(8626), GALNT3(2591), DLX3(1747), GJA1(2697), CHST3(9469), RECQL4(9401), PVRL1(5818), MSX1(4487), ADAMTS2(9509)]
ABNORMALITY OF DENTIN(HP:0010299)	[DSPP(1834), ZNF469(84627), PPIB(5479), COL1A1(1277)]
ABNORMALITY OF DNA REPAIR(HP:0003254)	[DDB2(1643), ERCC2(2068), ERCC5(2073), FANCD2(2177), FANCA(2175), ERCC4(2072), FANCC(2176), XPC(7508), ERCC6(2074), FANCE(2178), XPA(7507)]
ABNORMALITY OF EAR LOBES(HP:0000363)	[ESCO2(157570), ZEB2(9839), FGD1(2245), SEC23A(10484), COL3A1(1281), GLI3(2737)]
ABNORMALITY OF EOSINOPHILS(HP:0001879)	[IKBKG(8517), ADA(100), STAT3(6774), ELANE(1991), RAG2(5897), DOCK8(81704), DCLRE1C(64421), RAG1(5896), FAS(355), CASP10(843), PDGFRA(5156)]
ABNORMALITY OF ERYTHROCYTES(HP:0001877)	[PGK1(5230), ATRX(546), CPOX(1371), MMAA(166785), TINF2(26277), MMADHC(27249), SH2D1A(4068), ATR(545), ANK1(286), SLC25A38(54977), SLC11A2(4891), TGFB1(7040), DNAJC19(131118), GLRX5(51218), RNF139(11236), FOXP3(50943), CP(1356), SLC7A7(9056), NPHP1(4867), GCLC(2729), STK11(6794), ABCB7(22), FANCD2(2177), FANCC(2176), SMAD4(4089), FANCE(2178), SC5DL(6309), FECH(2235), GLA(2717), LYST(1130), PSTPIP1(9051), UROS(7390), NT5C3(51251), RHAG(6005), SEC23B(10483), TMPRSS6(164656), PFKM(5213), MPL(4352), UMPS(7372), ATP7B(540), PUS1(80324), GIF(2694), NPHP4(261734), GP1BA(2811), FH(2271), APOB(338), HBA2(3040), NHP2(55651), HBB(3043), NBN(4683), HBG1(3047), COL7A1(1294), HOXA11(3207), RAG2(5897), SBDS(51119), RAG1(5896), ACVRL1(94), HPRT1(3251), TBCE(6905), ADA(100), COX6B1(1340), G6PD(2539), JAK2(3717), CCND1(595), PANK2(80025), HBA1(3039), IVD(3712), FASTKD2(22868), TPI1(7167), CDAN1(146059), FAS(355), CASP10(843), OGG1(4968), CASR(846), SMPD1(6609), HAGH(3029), AMN(81693), TBXAS1(6916), SLC4A4(8671), CD40LG(959), SLC19A2(10560), DIRC2(84925), EPB42(2038), STOM(2040), GATA1(2623), HNF1A(6927), PRPS1(5631), HMBS(3145), GALT(2592), ENG(2022), CUBN(8029), SLC46A1(113235), GPX1(2876), AASS(10157), FMO3(2328), TCIRG1(10312), SPTB(6710), TCN2(6948), SPTA1(6708), GPI(2821), ABCG8(64241), VPS13A(23230), PKLR(5313), ABCG5(64240), DKC1(1736), CD247(919), FTCD(10841), PNPO(55163), LCAT(3931), BPGM(669), ADAMTS13(11093), BMPR1A(657), ISCU(23479), PLEC(5339), TNFSF11(8600), WFS1(7466), EGLN1(54583), HK1(3098), AK1(203), FLCN(201163), MVK(4598), LMBRD1(55788), RMRP(6023), DHFR(1719), CA2(760), NME1(4830), ALAS2(212), GSS(2937), GSR(2936), CYB5R3(1727), CFH(3075), SLC4A1(6521), ALAD(210), PHGDH(26227), NOP10(55505), SMARCAL1(50485), MMAB(326625), TERC(7012), TERT(7015), DCLRE1C(64421), FANCA(2175), TF(7018), ALDOA(226), MMACHC(25974), VHL(7428), PCCB(5096), WAS(7454), RPS14(6208), GBA(2629), MTRR(4552), PNP(4860), RPS19(6223), MTR(4548), PCCA(5095)]
ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462)	[FBN1(2200), FKRP(79147), GUSB(2990), ATRX(546), CCBE1(147372), GLRB(2743), NSD1(64324), VDR(7421), GLRA1(2741), H19(283120), GLI3(2737), KCNQ1OT1(10984), FAH(2184), AURKC(6795), GNE(10020), GNPTAB(79158), GLB1(2720), UQCRB(7381), SALL1(6299), GPC3(2719), LRP2(4036), SLC5A5(6528), B3GALTL(145173), ROR2(4920), C10orf2(56652), FKTN(2218), CHRNG(1146), MPV17(4358), RAB23(51715), ADAMTS2(9509), ZEB2(9839), FGFR1(2260), LOX(4015), BCS1L(617), FGFR2(2263), CDKN1C(1028), COL5A2(1290), SLC26A2(1836), COL5A1(1289), CYP27B1(1594), SBDS(51119), GPC6(10082), FGD1(2245), COL2A1(1280), COL3A1(1281), CBS(875), FUCA1(2517), BSCL2(26580), SLC37A4(2542), TRIP11(9321), G6PC(2538), TBX1(6899), PORCN(64840), ARG1(383), NIPBL(25836), FAM123B(139285), CUL7(9820), SMPD1(6609), CHD7(55636), PAX8(7849), ARSB(411), LARGE(9215), EFEMP2(30008), ERCC4(2072), TBX3(6926), FLNA(2316), IDS(3423), UQCRQ(27089), NEU1(4758), POMT1(10585), AGA(175), TSHB(7252), GALNS(2588), LBR(3930), SLC6A5(9152), RECQL4(9401), COL1A1(1277), POMT2(29954), HSPG2(3339), CD96(10225), INSR(3643), MED12(9968), GPHN(10243), DGUOK(1716), TRIM37(4591), DGCR(1714), FBLN5(10516), WNT3(7473), FREM2(341640), PITX2(5308), SMARCAL1(50485), FRAS1(80144), HYLS1(219844), EFNB1(1947), SEMA3E(9723), GBA(2629), AGPAT2(10555)]
ABNORMALITY OF EYE MOVEMENT(HP:0000496)	[FBN1(2200), FKRP(79147), CHAT(1103), DCX(1641), TINF2(26277), ATRX(546), MMADHC(27249), ATXN8(724066), ATR(545), SACS(26278), TGFBR1(7046), GAN(8139), HSD17B4(3295), TGFBI(7045), DPM1(8813), SLC16A2(6567), GLI3(2737), NOG(9241), HRAS(3265), NPHP1(4867), NPC1(4864), COQ2(27235), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), COLQ(8292), CHRNA1(1134), ACADS(35), LYST(1130), ACADSB(36), GK(2710), B3GALTL(145173), ROR2(4920), SLC6A8(6535), DDR2(4921), ACOX1(51), SLC9A6(10479), C20orf7(79133), GJA1(2697), MPV17(4358), CHRNE(1145), CHRND(1144), ACTA1(58), CHRNB1(1140), NPHP4(261734), NDUFS7(374291), MKKS(8195), SNRPN(6638), OCA2(4948), ZEB2(9839), GPR56(9289), RAPSN(5913), FGFR1(2260), FGFR2(2263), BCS1L(617), BBS12(166379), POLG(5428), FGF14(2259), KCNC3(3748), SOS1(6654), GPR143(4935), ATXN10(25814), TUBB3(10381), FGD1(2245), DTNBP1(84062), C8orf38(137682), OPA1(4976), ABHD5(51099), FOXC2(2303), GNAS(2778), BBS1(582), OPHN1(4983), BBS2(583), BBS4(585), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), ATP13A2(23400), NIPBL(25836), SIX6(4990), BBS10(79738), ZFPM2(23414), KDM5C(8242), DOK7(285489), CRB1(23418), PRNP(5621), PLA2G6(8398), TRIM32(22954), ZIC4(84107), ARL6(84100), ROBO3(64221), ERCC6(2074), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), MAP2K2(5605), BUB1B(701), TMEM67(91147), BLOC1S3(388552), ZIC1(7545), ALS2(57679), TREX1(11277), DNM2(1785), TCIRG1(10312), TCOF1(6949), SPG11(80208), BCOR(54880), DLAT(1737), DKC1(1736), DLD(1738), FOXL2(668), MKS1(54903), PRKCG(5582), RECQL4(9401), PDHX(8050), JAG1(182), HPS6(79803), GJB6(10804), WHCR(7467), WFS1(7466), PAX6(5080), INSR(3643), WHSC1(7468), ERCC8(1161), MVK(4598), CEP290(80184), MUSK(4593), ZMPSTE24(10269), MED12(9968), DGUOK(1716), GDF1(2657), TRIM37(4591), DHCR7(1717), DGCR(1714), SLC2A1(6513), AHI1(54806), BEAN(146227), CYB5R3(1727), PHGDH(26227), PPP2R2B(5521), COQ9(57017), FRMD7(90167), BEST1(7439), MFN2(9927), VLDLR(7436), SOST(50964), FANCA(2175), TSEN54(283989), TFAP2B(7021), TFAP2A(7020), GBA(2629), APTX(54840), CABC1(56997), BIN1(274), CLDN19(149461), BBS5(129880), MYH3(4621), SETX(23064), SALL4(57167), NSD1(64324), ANCR(282), HPS5(11234), MAPT(4137), GJC2(57165), EDNRB(1910), MYF6(4618), ATXN7(6314), IKBKG(8517), ESCO2(157570), ATXN8OS(6315), CDKL5(6792), GUCY2D(3000), COX15(1355), PTCH1(5727), KIF21A(55605), TYMP(1890), ATXN1(6310), ATXN2(6311), TMEM216(51259), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), LRP5(4041), PTEN(5728), NUP62(23636), MCOLN1(57192), SURF1(6834), C10orf2(56652), SCO2(9997), CACNA1A(773), SLC25A4(291), AP3B1(8546), SLC17A5(26503), CREBBP(1387), SIL1(64374), CNNM4(26504), ALDH5A1(7915), NAGA(4668), PTH1R(5745), CACNA1F(778), MAN2B1(4125), PDHA1(5160), LMNB1(4001), LMNA(4000), CNGB3(54714), ALG6(29929), INPP5E(56623), SDHA(6389), MECP2(4204), PDP1(54704), COL11A1(1301), HTT(3064), PDSS2(57107), NDN(4692), PHF6(84295), NDUFA1(4694), NDUFA2(4695), COL4A1(1282), PDSS1(23590), COL2A1(1280), UBE3A(7337), HCRT(3060), TTC8(123016), PEX26(55670), POMGNT1(55624), TBP(6908), HPS3(84343), TBX1(6899), ATCAY(85300), PORCN(64840), PEX3(8504), NDUFS1(4719), EBP(10682), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), TYR(7299), CLDN16(10686), BBS7(55212), NDUFS6(4726), TTBK2(146057), NDUFS4(4724), ALMS1(7840), DPAGT1(1798), TYRP1(7306), NDUFS8(4728), PRSS12(8492), HSD17B10(3028), PEX19(5824), EP300(2033), TWIST1(7291), LARGE(9215), PEX5(5830), SPG7(6687), PHOX2A(401), PLP1(5354), NDUFAF2(91942), FLNA(2316), SPAST(6683), SOX10(6663), TTR(7276), ATXN3(4287), NPC2(10577), MITF(4286), PMM2(5373), NEU1(4758), NKX2-5(1482), ASPA(443), NDUFAF3(25915), L2HGDH(79944), SPTBN2(6712), LBR(3930), CTDP1(9150), NHS(4810), RYR1(6261), ATP1A2(477), CD96(10225), ATM(472), HSPD1(3329), PTPN11(5781), L1CAM(3897), FXN(2395), PITX2(5308), ALG3(10195), KRAS(3845), EFNB1(1947), MMACHC(25974), HPS4(89781)]
ABNORMALITY OF FACIAL ADIPOSE TISSUE(HP:0000291)	[LMNB2(84823), LMNA(4000), ERCC8(1161), ERCC6(2074), ZMPSTE24(10269)]
ABNORMALITY OF FACIAL MUSCULATURE(HP:0000301)	[FKRP(79147), BIN1(274), DMPK(1760), LARGE(9215), TRIM32(22954), SALL4(57167), GJC2(57165), SGCB(6443), DCTN1(1639), MTM1(4534), MYF6(4618), ABCA1(19), TTN(7273), ALS2(57679), DNM2(1785), ANO5(203859), TCIRG1(10312), TK2(7084), ACADS(35), SEPN1(57190), MTMR2(8898), SPTBN2(6712), SLC25A4(291), CHRNE(1145), PRKCG(5582), ACTA1(58), SLC12A6(9990), CHRNB1(1140), TNFSF11(8600), ATP1A3(478), RYR1(6261), RAPSN(5913), MECP2(4204), MUSK(4593), POLG(5428), EYA1(2138), COL6A1(1291), COL6A2(1292), COL6A3(1293), NEB(4703), CLCN7(1186), ANKH(56172), CLCF1(23529), SOST(50964), SEMA3E(9723), PABPN1(8106), DES(1674), KDM5C(8242), TPM3(7170), CHD7(55636)]
ABNORMALITY OF FATTY-ACID METABOLISM(HP:0004359)	[ACADM(34), PEX19(5824), ACADL(33), PEX2(5828), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), ACADVL(37), PEX1(5189), PEX3(8504), ETFDH(2110), ETFB(2109), ETFA(2108), ABCD1(215), CPT2(1376), PEX26(55670)]
ABNORMALITY OF FEMALE EXTERNAL GENITALIA(HP:0000055)	[PEX19(5824), ABCD3(5825), SNRPN(6638), CD96(10225), PEX2(5828), INSR(3643), HCCS(3052), LMNA(4000), PEX5(5830), TBX15(6913), ATR(545), FGFR1(2260), ATIC(471), FGFR2(2263), DHCR24(1718), ESCO2(157570), NDN(4692), FREM2(341640), UBR1(197131), PEX26(55670), CYP11B1(1584), BSCL2(26580), FRAS1(80144), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), TP63(8626), PORCN(64840), IRF6(3664), PEX3(8504), B3GALTL(145173), ROR2(4920), WT1(7490), NIPBL(25836), SEMA3E(9723), MKS1(54903), CHRNG(1146), POR(5447), AGPAT2(10555), CHD7(55636)]
ABNORMALITY OF FEMALE INTERNAL GENITALIA(HP:0000008)	[RET(5979), BBS5(129880), PROK2(60675), SALL4(57167), NELF(26012), ESCO2(157570), STK11(6794), PTCH1(5727), MYH9(4627), UBR1(197131), BBS9(27241), UPK3A(7380), PPARG(5468), SALL1(6299), LRP2(4036), AIP(9049), PTEN(5728), B3GALTL(145173), DCAF17(80067), FSHB(2488), FSHR(2492), POR(5447), FST(10468), MKKS(8195), GP1BA(2811), SNRPN(6638), FH(2271), LMNA(4000), GP9(2815), HCCS(3052), GP1BB(2812), FGFR1(2260), NBN(4683), TAC3(6866), FGFR2(2263), BBS12(166379), POLG(5428), TACR3(6870), AIRE(326), NDN(4692), HOXA13(3209), COL3A1(1281), CYP19A1(1588), CYP17A1(1586), TTC8(123016), CYP11B1(1584), BSCL2(26580), FOXC2(2303), BBS1(582), BBS2(583), BBS4(585), PCSK1(5122), BBS10(79738), BBS7(55212), ALMS1(7840), DHH(50846), AR(367), CHD7(55636), TRIM32(22954), RPS6KA3(6197), ARL6(84100), HNF1A(6927), STRA6(64220), ITGB3(3690), HNF1B(6928), PMM2(5373), ITGA2B(3674), BCOR(54880), IRF6(3664), WT1(7490), FOXL2(668), MKS1(54903), KISS1R(84634), WNT4(54361), RECQL4(9401), BMPR1B(658), SRY(6736), WHCR(7467), INSR(3643), WHSC1(7468), ATM(472), ERCC8(1161), CEP290(80184), PAX3(5077), PTPN11(5781), EIF2B2(8892), EIF2B5(8893), DHCR7(1717), EIF2B4(8890), EIF2B3(8891), WNT3(7473), EIF2B1(1967), FREM2(341640), WNT7A(7476), HFE(3077), FRAS1(80144), TP63(8626), HYLS1(219844), VWF(7450), SSTR5(6755), PPP1R3A(5506), AGPAT2(10555), F10(2159), MNX1(3110), F5(2153)]
ABNORMALITY OF FEMORAL EPIPHYSES(HP:0006499)	[SMARCAL1(50485), TRAPPC2(6399), HSPG2(3339), RET(5979), TBX4(9496), TRPS1(7227), ADAMTSL2(9719), PCNT(5116), WISP3(8838), COL11A2(1302), COL11A1(1301), SLC26A2(1836), SBDS(51119), MATN3(4148), DYM(54808), GNPTG(84572), ACAN(176), COL2A1(1280), IHH(3549)]
ABNORMALITY OF GALACTOSIDE METABOLISM(HP:0004342)	[CTSA(5476), GLB1(2720)]
ABNORMALITY OF GANGLIOSIDE METABOLISM(HP:0004345)	[GM2A(2760), GNPTG(84572), HEXA(3073), GNPTAB(79158)]
ABNORMALITY OF GASTROINTESTINAL ORGANS(HP:0002012)	[FBN1(2200), FKRP(79147), FBP1(2203), CHAT(1103), TINF2(26277), VPS33B(26276), SPINK5(11005), PPOX(5498), CCBE1(147372), HSD17B4(3295), H19(283120), DPM1(8813), SLC16A1(6566), DNAJC19(131118), SLC16A2(6567), FAH(2184), KCNQ1OT1(10984), SLC22A5(6584), ABCA1(19), GNMT(27232), HRAS(3265), CTSA(5476), MATR3(9782), UBR1(197131), BBS9(27241), GNPTAB(79158), ACADM(34), CHRNA1(1134), FECH(2235), ACADS(35), PPARG(5468), ACADL(33), LYST(1130), ACAT1(38), ACADVL(37), NEUROG3(50674), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), MPL(4352), C20orf7(79133), MPZ(4359), MPV17(4358), ACP2(53), CHRNE(1145), SLC12A1(6557), CHRND(1144), ACTA1(58), CHRNB1(1140), ACTB(60), SNRPN(6638), ZEB2(9839), FGFR1(2260), FGFR2(2263), BBS12(166379), CDKN1C(1028), POLG(5428), CDKN2A(1029), CECR(1055), ACVRL1(94), FGA(2243), HPRT1(3251), MSH2(4436), ADA(100), PNLIP(5406), NDUFA11(126328), HPS1(3257), WNK1(65125), CFTR(1080), HOXD13(3239), FASTKD2(22868), HPD(3242), SMPD1(6609), PRNP(5621), ERBB2(2064), ERCC2(2068), TRIM32(22954), ERCC3(2071), PHOX2B(8929), ERCC4(2072), STRA6(64220), ERCC6(2074), HMGCL(3155), MTM1(4534), MAP2K1(5604), SGSH(6448), MAP2K2(5605), TMEM67(91147), BLOC1S3(388552), HMBS(3145), MAPK10(5602), ZIC3(7547), ABCC2(1244), HLCS(3141), PRKCSH(5589), AGA(175), ABCG8(64241), SPG11(80208), ABCG5(64240), AFP(174), ETFDH(2110), ETFB(2109), ETFA(2108), PRKCG(5582), AGL(178), COL1A1(1277), KIAA1279(26128), JAG1(182), WHCR(7467), WFS1(7466), HK1(3098), WHSC1(7468), SIX3(6496), ERCC8(1161), ST3GAL5(8869), CEP290(80184), MVK(4598), MUSK(4593), MUTYH(4595), EYA1(2138), MUT(4594), MED12(9968), TRIM37(4591), NCF1(653361), SLC17A3(10786), SLC2A2(6514), SLC5A2(6524), WNT3(7473), HEXB(3074), CFH(3075), SLC4A1(6521), HFE(3077), ALAD(210), SLC5A1(6523), NOP10(55505), FRAS1(80144), ALDOB(229), SI(6476), TSEN54(283989), ALDOA(226), VHL(7428), PPP1R3A(5506), VWF(7450), WAS(7454), ALPL(249), F9(2158), MCEE(84693), MTR(4548), MNX1(3110), MTTP(4547), BIN1(274), CPT1A(1374), CPS1(1373), CPOX(1371), NAGS(162417), CLDN1(9076), ANCR(282), NSD1(64324), HPS5(11234), MAPT(4137), ANK1(286), ATXN7(6314), ATXN8OS(6315), ESCO2(157570), SLC7A7(9056), ABCB4(5244), GNE(10020), ATXN1(6310), ATXN2(6311), SC5DL(6309), UQCRB(7381), SALL1(6299), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), UROD(7389), UROS(7390), IL2RG(3561), NUP62(23636), C10orf2(56652), SCO2(9997), PFKM(5213), FSHR(2492), SLC17A5(26503), SEC63(11231), CREBBP(1387), ATP8B1(5205), CPT2(1376), MAN2B1(4125), TREH(11181), NHP2(55651), INPP5E(56623), APOE(348), MECP2(4204), TSFM(10102), PDP1(54704), AMACR(23600), PDGFRL(5157), APOC2(344), PDGFRA(5156), AIRE(326), COL5A2(1290), APC(324), COL5A1(1289), COL7A1(1294), MEFV(4210), APOA1(335), FUCA1(2517), UBE3A(7337), MEN1(4221), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), SLC37A4(2542), VPS13B(157680), SLC39A4(55630), ABCC6(368), COX6B1(1340), G6PD(2539), G6PC(2538), ARG1(383), MCM6(4175), PCSK1(5122), AQP2(359), PANK2(80025), IGHMBP2(3508), CDAN1(146059), FAS(355), GAA(2548), SCNN1G(6340), IGKC(3514), AR(367), UGT1A1(54658), KLF6(1316), SCNN1A(6337), CHD7(55636), SCNN1B(6338), SLC25A15(10166), ARSA(410), ARSB(411), PLOD1(5351), SLC25A13(10165), LARGE(9215), RPS6KA3(6197), CTNNB1(1499), FLNA(2316), CIITA(4261), CTNS(1497), IDS(3423), MID1(4281), TTR(7276), ATXN3(4287), PMM2(5373), FMO3(2328), MET(4233), LRPPRC(10128), ASS1(445), PKLR(5313), PKHD1(5314), TSPYL1(7259), ASL(435), SP110(3431), CYBA(1535), ASAH1(427), ARX(170302), ASCL1(429), MBTPS2(51360), PLG(5340), ATP1A3(478), RYR1(6261), CD96(10225), PIK3CA(5290), HSPD1(3329), LMBRD1(55788), MPI(4351), TRH(7200), PKD2(5311), MOCS2(4338), PKD1(5310), MOCS1(4337), PITX2(5308), ALG3(10195), MMAB(326625), DCLRE1C(64421), MLH1(4292), PHKA2(5256), PHKB(5257), HYLS1(219844), CSF3R(1441), SERPINA1(5265), ANTXR2(118429), HPS4(89781), TPM3(7170), RET(5979), ATRX(546), MMAA(166785), ATXN8(724066), DDC(1644), AVPR2(554), SLC11A2(4891), TGFB1(7040), MCCC1(56922), GLI3(2737), DCR(1637), NPHS1(4868), REG1A(5967), THPO(7066), NPC1(4864), RPGRIP1L(23322), GLB1(2720), COLQ(8292), GLA(2717), GPC3(2719), MRPS22(56945), GK(2710), RHAG(6005), GJB1(2705), RFX5(5993), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), RFXAP(5994), DBT(1629), VANGL1(81839), ATP7B(540), GIF(2694), AXIN1(8312), ATP7A(538), SAR1B(51128), GP1BA(2811), MKKS(8195), KCNJ11(3767), RAPSN(5913), OCRL(4952), BCS1L(617), BDNF(627), AAAS(8086), ATXN10(25814), GNS(2799), SBDS(51119), RAG2(5897), TNFRSF1A(7132), RAG1(5896), KCNJ1(3758), CYP11B2(1585), DTNBP1(84062), ABHD5(51099), BBS1(582), BBS2(583), BBS4(585), NDUFAF4(29078), CYBB(1536), NIPBL(25836), PABPN1(8106), JAK2(3717), BCKDHA(593), BBS10(79738), CCND1(595), BCKDHB(594), FAM123B(139285), IVD(3712), TPI1(7167), TP53(7157), MLYCD(23417), AMN(81693), BTD(686), DMPK(1760), TBXAS1(6916), OXCT1(5019), ARL6(84100), GATA1(2623), TBX3(6926), BRAF(673), OTC(5009), ITGB3(3690), ITGB4(3691), ITGB2(3689), BUB1B(701), HNF1B(6928), GALT(2592), ALS2(57679), TREX1(11277), CUBN(8029), SLC46A1(113235), BTK(695), TCIRG1(10312), DNMT3B(1789), GALC(2581), TCN2(6948), GALE(2582), ITGA2B(3674), GALNS(2588), DKC1(1736), DLD(1738), PSAT1(29968), GALK1(2584), BPGM(669), MKS1(54903), IRF1(3659), RECQL4(9401), MRPS16(51021), PDX1(3651), ETHE1(23474), BMPR1A(657), HPS6(79803), ITGA6(3655), POMT2(29954), ZFYVE26(23503), INSR(3643), ACAD9(28976), TNFRSF13B(23495), PAX4(5078), PAX3(5077), INS(3630), GPHN(10243), RMRP(6023), DGUOK(1716), CA2(760), DHCR7(1717), DGCR(1714), EPM2A(7957), GDNF(2668), HGSNAT(138050), ALG1(56052), GCK(2645), CLCF1(23529), TERC(7012), TERT(7015), PCK1(5105), PCK2(5106), TIMM8A(1678), TF(7018), TFAP2A(7020), EIF2AK3(9451), SERPING1(710), DES(1674), PCCB(5096), GBA(2629), GBE1(2632), PC(5091), GCDH(2639), PCCA(5095), C5(727), MYCN(4613), GUSB(2990), LYZ(4069), SH2D1A(4068), BBS5(129880), SETX(23064), SALL4(57167), EDNRA(1909), EDN3(1908), EDNRB(1910), FOXP3(50943), MANF(7873), IKBKAP(8518), CDKL5(6792), GUCY2D(3000), STK11(6794), MYH8(4626), MYH9(4627), AURKC(6795), SMAD4(4089), TYMP(1890), MYO5B(4645), SLC25A20(788), LRP2(4036), PTEN(5728), ABCC8(6833), CACNA1A(773), AP3B1(8546), RAB23(51715), NAGLU(4669), ICOS(29851), PRSS1(5644), HCCS(3052), LMNA(4000), KRIT1(889), ALG6(29929), HBB(3043), NBN(4683), NHLRC1(378884), PSAP(5660), NCF2(4688), LPL(4023), PSEN1(5663), NDN(4692), SPINT2(10653), NDUFA1(4694), CBS(875), TMPRSS15(5651), NEB(4703), TBP(6908), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), SLC26A3(1811), NDUFS1(4719), LIFR(3977), DPYS(1807), NDUFV1(4723), LIPA(3988), NDUFS2(4720), HADHB(3032), HADH(3033), CLDN16(10686), BBS7(55212), NDUFS6(4726), HBA1(3039), NDUFS4(4724), ALMS1(7840), MOGS(7841), CASP10(843), CASP8(841), CASR(846), HADHA(3030), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), CD40LG(959), PEX2(5828), SLC19A2(10560), PEX5(5830), SPG7(6687), PYGL(5836), NDUFAF2(91942), SOX10(6663), SOX2(6657), NPC2(10577), ENG(2022), UQCRQ(27089), ABCB11(8647), NEU1(4758), POMT1(10585), LAMB3(3914), SPTB(6710), SPTA1(6708), GPI(2821), LAMC2(3918), NDUFAF3(25915), VPS13A(23230), AKR1D1(6718), CD247(919), D2HGDH(728294), LAMA3(3909), PNPO(55163), LBR(3930), GFM1(85476), SPINK1(6690), TNFSF11(8600), DNAI1(27019), CDC73(79577), L1CAM(3897), NME1(4830), NPHP3(27031), FREM2(341640), CDH1(999), ADAMTSL2(9719), RFXANK(8625), KRAS(3845), NODAL(4838), SEMA3E(9723), MMACHC(25974), AICDA(57379), PNP(4860), AGPAT2(10555), PNKD(25953)]
ABNORMALITY OF GASTROINTESTINAL VASCULATURE(HP:0004296)	[VWF(7450), ENG(2022), ACVRL1(94)]
ABNORMALITY OF GLOBE LOCATION OR SIZE(HP:0000489)	[FBN1(2200), AVP(551), RET(5979), FKRP(79147), ATRX(546), TGIF1(7050), MYH3(4621), SALL4(57167), CCBE1(147372), TGFBR1(7046), NSD1(64324), ANCR(282), HSD17B4(3295), DPM1(8813), TGFB1(7040), GLI3(2737), IKBKG(8517), ESCO2(157570), ALX3(257), THRB(7068), HRAS(3265), CDKL5(6792), GUCY2D(3000), ADAMTS10(81794), PTCH1(5727), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), GNE(10020), FANCE(2178), GLB1(2720), CHRNA1(1134), UPK3A(7380), GPC3(2719), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), CRTAP(10491), LRP2(4036), PEX1(5189), SEC23A(10484), LRP5(4041), B3GALTL(145173), ROR2(4920), PEPD(5184), DDR2(4921), ACOX1(51), FKTN(2218), GJA1(2697), CHRNG(1146), CHRND(1144), CREBBP(1387), POR(5447), SLC12A6(9990), PROKR2(128674), PTH1R(5745), FH(2271), HCCS(3052), RAPSN(5913), ZEB2(9839), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), MECP2(4204), COL11A2(1302), COL11A1(1301), PRPS2(5634), FGF10(2255), SOS1(6654), PHF6(84295), NDP(4693), CECR(1055), KCNJ2(3759), FGD1(2245), KCNJ1(3758), ACY1(95), FUCA1(2517), UBE3A(7337), PEX26(55670), FOXC2(2303), TBCE(6905), FOXE3(2301), OPHN1(4983), TBX1(6899), PORCN(64840), PEX3(8504), NIPBL(25836), SIX6(4990), RUNX2(860), EBP(10682), OFD1(8481), SNAP29(9342), FAM123B(139285), DOK7(285489), CHD7(55636), PEX19(5824), ABCD3(5825), EP300(2033), ABCA12(26154), PEX2(5828), TWIST1(7291), LARGE(9215), PEX5(5830), ERCC3(2071), TBX15(6913), RPS6KA3(6197), PRPS1(5631), STRA6(64220), ERCC6(2074), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), MID1(4281), BUB1B(701), SOX9(6662), SOX2(6657), ATXN3(4287), SH3BP2(6452), NF1(4763), POMT1(10585), MFRP(83552), DNMT3B(1789), TCOF1(6949), BMP4(652), BCOR(54880), FOXL2(668), LBR(3930), MKS1(54903), ARX(170302), AGL(178), RECQL4(9401), RPE65(6121), PDHX(8050), JAG1(182), RAB3GAP1(22930), POMT2(29954), NHS(4810), WHCR(7467), CD96(10225), SEPT9(10801), INSR(3643), EHMT1(79813), WHSC1(7468), SIX3(6496), PAX3(5077), ZMPSTE24(10269), PAX2(5076), MED12(9968), PTPN11(5781), RMRP(6023), TRIM37(4591), DHCR7(1717), DGCR(1714), RAX(30062), FAM20C(56975), SH3PXD2B(285590), WNT3(7473), FREM2(341640), EVC(2121), FRAS1(80144), SHH(6469), ALG1(56052), STAT3(6774), BEST1(7439), SOST(50964), FANCA(2175), KRAS(3845), HYLS1(219844), TFAP2B(7021), SEMA3E(9723), TFAP2A(7020), EFNB1(1947), EIF2AK3(9451), MMP2(4313), GBA(2629), ALPL(249), LEPRE1(64175)]
ABNORMALITY OF GLYCOLYSIS(HP:0004366)	[GPI(2821), G6PD(2539), GSS(2937), PDHX(8050), PC(5091), HAGH(3029)]
ABNORMALITY OF GLYCOPROTEIN METABOLISM(HP:0004367)	[CDAN1(146059), SEC23B(10483)]
ABNORMALITY OF GLYCOSIDE METABOLISM(HP:0003649)	[CTSA(5476), GLB1(2720)]
ABNORMALITY OF GLYCOSPHINGOLIPID METABOLISM(HP:0004343)	[GM2A(2760), GBA(2629), GNPTG(84572), HEXA(3073), GNPTAB(79158)]
ABNORMALITY OF GRANULOCYTES(HP:0001911)	[AK2(204), CD40(958), CD40LG(959), MMAA(166785), LMBRD1(55788), PDGFRA(5156), CIITA(4261), IKBKG(8517), RMRP(6023), CEBPE(1053), RAG2(5897), SBDS(51119), RAG1(5896), FANCD2(2177), FANCC(2176), FANCE(2178), FMO3(2328), SMARCAL1(50485), TCN2(6948), ADA(100), SLC37A4(2542), MMAB(326625), AGA(175), STAT3(6774), DCLRE1C(64421), FANCA(2175), FTCD(10841), RFXANK(8625), MMACHC(25974), TAZ(6901), PCCB(5096), RFX5(5993), LBR(3930), RFXAP(5994), AP3B1(8546), ELANE(1991), WAS(7454), DOCK8(81704), PNP(4860), FAS(355), CASP10(843), CXCR4(7852), SLC35A1(10559), PCCA(5095)]
ABNORMALITY OF HABITUS(HP:0010718)	[PLOD1(5351), FBN2(2201), RET(5979), KAL1(3730), TGFBR1(7046), TGFB1(7040), MED12(9968), COL6A1(1291), COL6A2(1292), COL6A3(1293), ZNF469(84627), COL2A1(1280), NEB(4703)]
ABNORMALITY OF HAIR PIGMENTATION(HP:0009887)	[TINF2(26277), LPAR6(10161), ANCR(282), MECP2(4204), PAX3(5077), EDNRB(1910), RMRP(6023), SOX10(6663), CDKL5(6792), MITF(4286), SNAI2(6591), UROC1(131669), UBE3A(7337), MLPH(79083), PAH(5053), MYO5A(4644), TERC(7012), TERT(7015), TP63(8626), DKC1(1736), TFAP2A(7020), RAB27A(5873), PRKAR1A(5573), AP3B1(8546), SLC17A5(26503), RECQL4(9401), ZNF469(84627)]
ABNORMALITY OF HAIR TEXTURE(HP:0010719)	[GJB6(10804), TRPS1(7227), ERCC2(2068), ERCC3(2071), LPAR6(10161), NSD1(64324), GAN(8139), BCS1L(617), FLNA(2316), ZMPSTE24(10269), EDARADD(128178), EDA(1896), SGSH(6448), MED12(9968), CDH3(1001), IKBKG(8517), RMRP(6023), SLC7A7(9056), C7orf11(136647), GNS(2799), DSP(1832), HRAS(3265), CBS(875), EDAR(10913), KRT85(3891), HR(55806), SMARCAL1(50485), ST14(6768), HGSNAT(138050), JUP(3728), TP63(8626), SEC23A(10484), PORCN(64840), DCAF17(80067), GTF2H5(404672), GJA1(2697), WNT10A(80326), NAGLU(4669), SUOX(6821), MSX1(4487), ATP7A(538)]
ABNORMALITY OF HAND JOINT MOBILITY(HP:0006256)	[COL6A1(1291), COL6A2(1292), COL6A3(1293), FGD1(2245)]
ABNORMALITY OF HISTIOCYTES(HP:0004310)	[NPC2(10577), NPC1(4864), SMPD1(6609), GLB1(2720)]
ABNORMALITY OF KERATINIZATION(HP:0001035)	[ABCA12(26154), ARSE(415), ERCC2(2068), TGM1(7051), ERCC3(2071), STS(412), CLDN1(9076), SLURP1(57152), BRAF(673), MAP2K1(5604), FERMT1(55612), MAP2K2(5605), ITGB4(3691), FLT4(2324), DOLK(22845), NSDHL(50814), LAMB3(3914), LAMC2(3918), PEX7(5191), PTEN(5728), SART3(9733), GJB2(2706), LAMA3(3909), GJB3(2707), GTF2H5(404672), GJA1(2697), KITLG(4254), MBTPS2(51360), NAGA(4668), WNT10A(80326), POMP(51371), PLEC(5339), ADAMTS2(9509), GJB6(10804), KRT81(3887), INSR(3643), COL17A1(1308), LOR(4014), KRT17(3872), ZMPSTE24(10269), AAAS(8086), DSP(1832), DSG1(1828), KRT86(3892), KRT83(3889), COL4A5(1287), KRT6B(3854), ST14(6768), KRT5(3852), KRT6A(3853), JUP(3728), KRT1(3848), KRT2(3849), TP63(8626), KRAS(3845), SUMF1(285362), ALDH3A2(224), EBP(10682), PHYH(5264), KRT16(3868), SNAP29(9342), ATP2A2(488), GBA(2629), GJB4(127534), CTSC(1075), KRT14(3861), PVRL1(5818), KRT10(3858), KRT9(3857)]
ABNORMALITY OF KREBS CYCLE METABOLISM(HP:0000816)	[MMAB(326625), FH(2271), MMADHC(27249), MMAA(166785), MMACHC(25974)]
ABNORMALITY OF LEUCINE METABOLISM(HP:0004357)	[ETFDH(2110), ETFB(2109), ETFA(2108)]
ABNORMALITY OF LEUKOCYTES(HP:0001881)	[LYL1(4066), MMAA(166785), TINF2(26277), SH2D1A(4068), SPINK5(11005), ATR(545), SETX(23064), SALL4(57167), NSD1(64324), DCR(1637), B2M(567), IKBKG(8517), SLC7A7(9056), NPM1(4869), KIT(3815), THPO(7066), MYH9(4627), FANCD2(2177), ABL1(25), FANCC(2176), FANCE(2178), GLB1(2720), MSH6(2956), LYST(1130), PICALM(8301), PSTPIP1(9051), IL2RG(3561), RFX5(5993), GTF2H5(404672), MPL(4352), RFXAP(5994), AP3B1(8546), SLC17A5(26503), CREBBP(1387), UMPS(7372), UNG(7374), ICOS(29851), MAN2B1(4125), ARHGEF12(23365), RARA(5914), BCR(613), NHP2(55651), NBN(4683), PDGFRB(5159), CDKN2A(1029), HBG1(3047), PDGFRA(5156), CEBPA(1050), MEFV(4210), CEBPE(1053), HOXA11(3207), SBDS(51119), RAG2(5897), POLA1(5422), RAG1(5896), FUCA1(2517), LPP(4026), FES(2242), CNBP(7555), MSH2(4436), ADA(100), SLC37A4(2542), VPS13B(157680), SLC39A4(55630), SFTPA2(729238), TBX1(6899), PMS2(5395), PSG1(5669), TAZ(6901), RUNX1(861), MCL1(4170), JAK2(3717), LIPA(3988), IVD(3712), BCL2(596), TCL1A(8115), FAS(355), RB1(5925), CASP10(843), CXCR4(7852), BCL3(602), CASP8(841), TAL1(6886), TP53(7157), EP300(2033), CD40(958), TBXAS1(6916), CD40LG(959), ERCC2(2068), ERCC3(2071), GATA1(2623), CIITA(4261), FLT3(2322), ITGB2(3689), BUB1B(701), MLLT10(8028), SH3GL1(6455), BTK(695), PMM2(5373), NEU1(4758), FMO3(2328), TCIRG1(10312), DNMT3B(1789), NUP214(8021), TCN2(6948), CD8A(925), AGA(175), TLX1(3195), DKC1(1736), CD3E(916), FTCD(10841), SP110(3431), BLM(641), TRA@(6955), LBR(3930), RAB27A(5873), AMLCR2(9163), ELANE(1991), DOCK8(81704), WHSC1L1(54904), TNFSF11(8600), AK2(204), PBX1(5087), ATM(472), MYB(4602), TNFRSF13B(23495), MVK(4598), LMBRD1(55788), MUT(4594), RMRP(6023), DGCR(1714), MOS(4342), ETV6(2120), NOP10(55505), SMARCAL1(50485), MMAB(326625), STAT3(6774), MLL(4297), TERC(7012), KRT1(3848), TERT(7015), DCLRE1C(64421), MLH1(4292), ROBLD3(28956), FANCA(2175), RFXANK(8625), SUMF1(285362), MMACHC(25974), GMPS(8833), AICDA(57379), MLF1(4291), PCCB(5096), KRT16(3868), CLN3(1201), KLHDC8B(200942), WAS(7454), GBA(2629), PNP(4860), SLC35A1(10559), KRT9(3857), PCCA(5095)]
ABNORMALITY OF LIPID METABOLISM(HP:0003119)	[PEX19(5824), CPT1A(1374), RET(5979), PEX2(5828), MMAA(166785), MMADHC(27249), LDLR(3949), PEX5(5830), PYGL(5836), ABCA1(19), NPC2(10577), NPC1(4864), NSDHL(50814), PMM2(5373), UBR1(197131), GNPTAB(79158), SC5DL(6309), ACADM(34), FECH(2235), PPARG(5468), ACADL(33), ABCG8(64241), ABCG5(64240), PEX10(5192), KIF1B(23095), PEX14(5195), ACADVL(37), PEX13(5194), PEX1(5189), DCAF17(80067), ETFDH(2110), ETFB(2109), ETFA(2108), LCAT(3931), LBR(3930), AGL(178), CPT2(1376), JAG1(182), APOB(338), LMNA(4000), NPHS2(7827), APOA5(116519), APOA2(336), SDHD(6392), ERCC8(1161), SDHB(6390), OCRL(4952), APOE(348), ZMPSTE24(10269), APOC2(344), DHCR24(1718), DHCR7(1717), LPL(4023), SLC17A3(10786), ALAS2(212), HEXA(3073), ABCD1(215), CFH(3075), SLC4A1(6521), PEX26(55670), BSCL2(26580), SLC37A4(2542), MMAB(326625), G6PC(2538), PHKA2(5256), PEX3(8504), MMACHC(25974), VHL(7428), EBP(10682), PPP1R3A(5506), GM2A(2760), LIPA(3988), PANK2(80025), GBA(2629), ALMS1(7840), GNPTG(84572), AGPAT2(10555), APTX(54840), MTTP(4547), SMPD1(6609)]
ABNORMALITY OF LOWER LIP(HP:0000178)	[MED12(9968), FKRP(79147), CUL4B(8450), POMGNT1(55624), ATRX(546), GJA1(2697), EHMT1(79813), RPS6KA3(6197), FGD1(2245), IRF6(3664), SMS(6611), TFAP2A(7020)]
ABNORMALITY OF LOWER-LIMB METAPHYSES(HP:0006490)	[FGFR3(2261)]
ABNORMALITY OF LYMPHOCYTES(HP:0004332)	[CD40(958), CD40LG(959), MMAA(166785), TINF2(26277), SH2D1A(4068), SPINK5(11005), ERCC2(2068), ERCC3(2071), ATR(545), SETX(23064), CIITA(4261), B2M(567), FANCD2(2177), BTK(695), FANCC(2176), PMM2(5373), NEU1(4758), FANCE(2178), TCIRG1(10312), GLB1(2720), DNMT3B(1789), TCN2(6948), CD8A(925), AGA(175), DKC1(1736), PSTPIP1(9051), CD3E(916), SP110(3431), BLM(641), IL2RG(3561), RFX5(5993), GTF2H5(404672), RAB27A(5873), MPL(4352), RFXAP(5994), ELANE(1991), SLC17A5(26503), UMPS(7372), UNG(7374), ICOS(29851), MAN2B1(4125), TNFSF11(8600), AK2(204), ATM(472), TNFRSF13B(23495), NHP2(55651), NBN(4683), MVK(4598), LMBRD1(55788), HBG1(3047), RMRP(6023), DGCR(1714), HOXA11(3207), SBDS(51119), RAG2(5897), RAG1(5896), FUCA1(2517), NOP10(55505), SMARCAL1(50485), CNBP(7555), ADA(100), MMAB(326625), SLC39A4(55630), TERC(7012), SFTPA2(729238), KRT1(3848), TERT(7015), DCLRE1C(64421), ROBLD3(28956), FANCA(2175), TBX1(6899), PSG1(5669), RFXANK(8625), AICDA(57379), PCCB(5096), LIPA(3988), KRT16(3868), KLHDC8B(200942), CLN3(1201), WAS(7454), GBA(2629), IVD(3712), PNP(4860), FAS(355), CASP10(843), CXCR4(7852), CASP8(841), KRT9(3857), PCCA(5095)]
ABNORMALITY OF LYSOSOMAL METABOLISM(HP:0004356)	[CLCN7(1186), CA2(760), TNFRSF11B(4982), OCRL(4952), GNPTAB(79158)]
ABNORMALITY OF MACROPHAGES(HP:0004311)	[NCF2(4688), LIPA(3988), NPC2(10577), NCF1(653361), NPC1(4864), NEU1(4758), CYBA(1535), CYBB(1536), SMPD1(6609), GLB1(2720)]
ABNORMALITY OF MALE EXTERNAL GENITALIA(HP:0000032)	[FBN1(2200), DCX(1641), ATRX(546), BBS5(129880), PROK2(60675), ATR(545), MYH3(4621), NELF(26012), CCBE1(147372), HSD17B3(3293), NSD1(64324), H19(283120), DNAJC19(131118), GLI3(2737), FERMT1(55612), ESCO2(157570), KCNQ1OT1(10984), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), AMH(268), AMHR2(269), SC5DL(6309), SALL1(6299), GPC3(2719), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), SEC23A(10484), PTEN(5728), B3GALTL(145173), DCAF17(80067), ROR2(4920), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CREBBP(1387), POR(5447), RAB23(51715), CYP11A1(1583), MKKS(8195), SNRPN(6638), HCCS(3052), RAPSN(5913), ZEB2(9839), FGFR1(2260), EVC2(132884), FGFR3(2261), OCRL(4952), INPP5E(56623), TAC3(6866), MECP2(4204), FGFR2(2263), CDKN1C(1028), BBS12(166379), TACR3(6870), CUL4B(8450), FGF10(2255), SOS1(6654), NDN(4692), PHF6(84295), DSP(1832), POLA1(5422), HOXA13(3209), GPC6(10082), FGD1(2245), CYP21A2(1589), CYP17A1(1586), PQBP1(10084), PEX26(55670), TTC8(123016), CYP11B1(1584), FOXC2(2303), LHCGR(3973), TBCE(6905), LHB(3972), UBA1(7317), SLC39A4(55630), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), BBS4(585), PORCN(64840), PEX3(8504), NIPBL(25836), BBS10(79738), KDM5C(8242), OFD1(8481), HOXD13(3239), BBS7(55212), DOK7(285489), CUL7(9820), AR(367), SMS(6611), CHD7(55636), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), PEX5(5830), STS(412), TBX15(6913), TRIM32(22954), ARL6(84100), TBX3(6926), STRA6(64220), ERCC6(2074), FLNA(2316), MTM1(4534), FLNB(2317), MID1(4281), BUB1B(701), SOX2(6657), HNF1B(6928), TCOF1(6949), BMP4(652), TSPYL1(7259), DKC1(1736), IRF6(3664), SRD5A2(6716), BLM(641), WT1(7490), MKS1(54903), KISS1R(84634), NR0B1(190), ARX(170302), RECQL4(9401), RAB3GAP1(22930), PLEC(5339), HSPG2(3339), WHCR(7467), CD96(10225), INSR(3643), WHSC1(7468), INSL3(3640), ERCC8(1161), CEP290(80184), ZMPSTE24(10269), DHCR24(1718), MED12(9968), PTPN11(5781), DHCR7(1717), RXFP2(122042), WNT3(7473), FREM2(341640), WNT7A(7476), EVC(2121), PHGDH(26227), PITX2(5308), STAR(6770), FRAS1(80144), PCNT(5116), F13A1(2162), TP63(8626), FANCA(2175), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), EFNB1(1947), TPM2(7169)]
ABNORMALITY OF MALE INTERNAL GENITALIA(HP:0000022)	[FBN1(2200), GUSB(2990), ATRX(546), BBS5(129880), PROK2(60675), ATR(545), MYH3(4621), NELF(26012), CCBE1(147372), NSD1(64324), GLRB(2743), GLRA1(2741), H19(283120), DNAJC19(131118), GLI3(2737), ESCO2(157570), KCNQ1OT1(10984), FANCD2(2177), FANCC(2176), GNE(10020), FANCE(2178), UBR1(197131), GNPTAB(79158), BBS9(27241), AMH(268), GLB1(2720), AMHR2(269), SALL1(6299), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), SEC23A(10484), B3GALTL(145173), PTEN(5728), ROR2(4920), DCAF17(80067), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CREBBP(1387), POR(5447), RAB23(51715), MAN2B1(4125), ADAMTS2(9509), MKKS(8195), SNRPN(6638), RAPSN(5913), ZEB2(9839), FGFR1(2260), EVC2(132884), OCRL(4952), LOX(4015), TAC3(6866), MECP2(4204), FGFR2(2263), POLG(5428), CDKN1C(1028), BBS12(166379), TACR3(6870), COL5A2(1290), SLC26A2(1836), CUL4B(8450), SOS1(6654), COL5A1(1289), NDN(4692), PHF6(84295), POLA1(5422), GNRH1(2796), GPC6(10082), FGD1(2245), COL2A1(1280), CBS(875), COL3A1(1281), PQBP1(10084), PEX26(55670), TTC8(123016), CYP11B1(1584), FOXC2(2303), HPRT1(3251), LHCGR(3973), TBCE(6905), LHB(3972), UBA1(7317), SLC39A4(55630), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), TBX1(6899), BBS4(585), PORCN(64840), PEX3(8504), NIPBL(25836), BBS10(79738), CCND1(595), KDM5C(8242), OFD1(8481), BBS7(55212), DOK7(285489), DHH(50846), CUL7(9820), AR(367), SMS(6611), CHD7(55636), PEX19(5824), ABCD3(5825), PLOD1(5351), ARSB(411), EP300(2033), DMPK(1760), PEX2(5828), PEX5(5830), STS(412), EFEMP2(30008), TRIM32(22954), RPS6KA3(6197), ARL6(84100), TBX3(6926), ERCC6(2074), STRA6(64220), PLOD2(5352), FLNA(2316), MTM1(4534), FLNB(2317), IDS(3423), MID1(4281), BUB1B(701), SOX2(6657), FLT4(2324), BTK(695), NEU1(4758), FMR1(2332), TCOF1(6949), BMP4(652), ELN(2006), AGA(175), TSPYL1(7259), SOX18(54345), GALNS(2588), DKC1(1736), IRF6(3664), BLM(641), MKS1(54903), KISS1R(84634), NR0B1(190), ARX(170302), MBTPS2(51360), COL1A2(1278), RECQL4(9401), SLC6A5(9152), COL1A1(1277), RAB3GAP1(22930), HSPG2(3339), WHCR(7467), WFS1(7466), CD96(10225), WHSC1(7468), ATM(472), INSL3(3640), ERCC8(1161), CEP290(80184), PTPN11(5781), MED12(9968), GPHN(10243), DHCR7(1717), DGCR(1714), RXFP2(122042), FBLN5(10516), FREM2(341640), WNT7A(7476), EVC(2121), HFE(3077), PHGDH(26227), FRAS1(80144), F13A1(2162), TP63(8626), FANCA(2175), SEMA3E(9723), TFAP2A(7020), VHL(7428), ATP6V0A2(23545), TPM2(7169), LEPRE1(64175)]
ABNORMALITY OF METACARPAL EPIPHYSES(HP:0005913)	[WHCR(7467), SALL1(6299), WHSC1(7468), PCNT(5116), IHH(3549)]
ABNORMALITY OF MITOCHONDRIAL METABOLISM(HP:0003287)	[PDHA1(5160), SDHA(6389), TSFM(10102), NDUFAF2(91942), PDP1(54704), HMGCL(3155), DNAJC19(131118), DGUOK(1716), NDUFA1(4694), ACADM(34), TK2(7084), ACADL(33), NDUFAF3(25915), ACADVL(37), NDUFA11(126328), CYBA(1535), NDUFAF4(29078), CYBB(1536), NDUFS1(4719), ETFDH(2110), TAZ(6901), ETFB(2109), ETFA(2108), C10orf2(56652), PCCB(5096), NDUFV1(4723), NDUFS2(4720), NDUFS6(4726), C20orf7(79133), MPV17(4358), NDUFS4(4724), PDHX(8050), CPT2(1376), SDHAF1(644096), ISCU(23479), PCCA(5095)]
ABNORMALITY OF MOVEMENT(HP:0100022)	[FBN1(2200), FBN2(2201), FKRP(79147), SUCLG1(8802), FBP1(2203), CHAT(1103), TINF2(26277), MMADHC(27249), SACS(26278), MCCC2(64087), HSD17B4(3295), DPM1(8813), DNAJC19(131118), SLC16A2(6567), SLC35C1(55343), FAH(2184), SLC22A5(6584), ABAT(18), HRAS(3265), ABCB7(22), COQ2(27235), FANCD2(2177), DOLK(22845), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), ACADM(34), ACADS(35), ACADL(33), LYST(1130), HSPB1(3315), ACADSB(36), ACADVL(37), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), MPZ(4359), C20orf7(79133), CHRNG(1146), MPV17(4358), ACP2(53), CHRNE(1145), CHRND(1144), ACTA1(58), CHRNB1(1140), ACTB(60), SNRPN(6638), FH(2271), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), KCTD7(154881), BBS12(166379), POLG(5428), FGF14(2259), SOS1(6654), HSPB8(26353), HOXA11(3207), FGD1(2245), SOD1(6647), ACY1(95), GDF6(392255), C8orf38(137682), SMN1(6606), FOXC2(2303), HPRT1(3251), CNBP(7555), NDUFA11(126328), HPS1(3257), WNK1(65125), FASTKD2(22868), PMP22(5376), SMS(6611), SMPD1(6609), ERBB3(2065), PRNP(5621), ERCC2(2068), ERCC3(2071), TRIM32(22954), CCT5(22948), ROBO3(64221), PRPS1(5631), SGCA(6442), STRA6(64220), ERCC6(2074), PRODH(5625), KIAA0196(9897), MTM1(4534), MAP2K1(5604), MAP2K2(5605), TMEM67(91147), MTHFR(4524), BLOC1S3(388552), HMBS(3145), ZIC1(7545), FAM126A(84668), CLN8(2055), HLCS(3141), AGA(175), MFSD8(256471), SPG11(80208), SGCE(8910), FGD4(121512), ETFDH(2110), ETFB(2109), ETFA(2108), PRKCG(5582), COL1A2(1278), RPIA(22934), COL1A1(1277), OPA3(80207), JAG1(182), RAB3GAP1(22930), XPA(7507), GJB6(10804), WHCR(7467), WFS1(7466), WHSC1(7468), ERCC8(1161), ST3GAL5(8869), MVK(4598), CEP290(80184), MUSK(4593), MUT(4594), EIF2B2(8892), MED12(9968), EIF2B5(8893), PPT1(5538), TRIM37(4591), SLC2A1(6513), NCF1(653361), EIF2B4(8890), EIF2B3(8891), BEAN(146227), HEXA(3073), HEXB(3074), GDAP1(54332), ABCD1(215), WNT7A(7476), SLC4A1(6521), EVC(2121), ALAD(210), PHGDH(26227), SMARCAL1(50485), FRAS1(80144), PPP2R2B(5521), FRMD7(90167), BEST1(7439), MFN2(9927), VLDLR(7436), CLCNKB(1188), FANCA(2175), WISP3(8838), TSEN54(283989), SHOX(6473), WNK4(65266), VWF(7450), CLN5(1203), TPP1(1200), CLN3(1201), MTRR(4552), ALPL(249), VRK1(7443), MTR(4548), MTTP(4547), AMT(275), VCP(7415), BIN1(274), CPT1A(1374), PGK1(5230), CPS1(1373), SCN1A(6323), NSD1(64324), ANCR(282), HPS5(11234), VDR(7421), MAPT(4137), MAT1A(4143), SLC6A19(340024), ATXN7(6314), ESCO2(157570), ATXN8OS(6315), CP(1356), SLC7A7(9056), COX15(1355), MATN3(4148), KIF21A(55605), GNE(10020), AMPD1(270), ATXN1(6310), ATXN2(6311), SC5DL(6309), UQCRB(7381), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), DCAF17(80067), NUP62(23636), C10orf2(56652), SCO2(9997), SLC25A4(291), SLC17A5(26503), CREBBP(1387), SIL1(64374), CNNM4(26504), UNG(7374), SLC12A6(9990), CPT2(1376), MAN2B1(4125), MANBA(4126), UCHL1(7345), PDHA1(5160), COMP(1311), APOB(338), CNGB3(54714), COL9A2(1298), INPP5E(56623), SDHA(6389), MECP2(4204), TSFM(10102), PDP1(54704), COL11A1(1301), COL5A2(1290), COL6A1(1291), COL5A1(1289), COL6A2(1292), COL6A3(1293), COL4A1(1282), GPC6(10082), PDSS1(23590), COL2A1(1280), FUCA1(2517), UBE3A(7337), FTL(2512), TTC8(123016), PEX26(55670), BSCL2(26580), POMGNT1(55624), VPS13B(157680), UBA1(7317), SLC39A4(55630), COX6B1(1340), PANK2(80025), TYR(7299), IGHMBP2(3508), TTBK2(146057), GAA(2548), TYROBP(7305), TYRP1(7306), AR(367), SLC25A15(10166), ARSA(410), PLOD1(5351), TWIST1(7291), LARGE(9215), RPS6KA3(6197), PHOX2A(401), PLP1(5354), FLNC(2318), FLNA(2316), CSTB(1476), TTR(7276), ATXN3(4287), TTPA(7274), MITF(4286), TTN(7273), AASS(10157), PMM2(5373), NKX2-5(1482), FMR1(2332), ASPA(443), LRPPRC(10128), ASS1(445), TSPYL1(7259), TSHB(7252), ASL(435), CYBA(1535), L2HGDH(79944), CTSD(1509), ARX(170302), ADAMTS13(11093), SLC6A5(9152), PLG(5340), MGAT2(4247), CTDP1(9150), ATP1A3(478), MBD5(55777), TRPS1(7227), RYR1(6261), ATP1A2(477), CD96(10225), ATM(472), ATIC(471), HSPD1(3329), LMBRD1(55788), MMP13(4322), MPI(4351), FXN(2395), PITX2(5308), ALG3(10195), MMAB(326625), PHKA1(5255), PHKB(5257), ALDH7A1(501), HYLS1(219844), PHYH(5264), MMP2(4313), HPS4(89781), TPM2(7169), ATP2A1(487), TPM3(7170), TPMT(7172), TH(7054), SH3TC2(79628), RET(5979), DCX(1641), AUH(549), ATRX(546), NPR2(4882), MMAA(166785), ATXN8(724066), DDC(1644), ATR(545), TGFBR1(7046), GAN(8139), GLRB(2743), GLRA1(2741), VAPB(9217), TGFBI(7045), DCTN1(1639), TGFB1(7040), MCCC1(56922), GLI3(2737), DCR(1637), NOG(9241), LRRK2(120892), THRB(7068), GLDC(2731), NPHP1(4867), NPC1(4864), CRLF1(9244), GLB1(2720), SBF2(81846), COLQ(8292), TK2(7084), GPC3(2719), NKX2-1(7080), KIF5A(3798), DYSF(8291), MRPS22(56945), GK(2710), ROR2(4920), DDR2(4921), GJB2(2706), SLC9A6(10479), KCNMA1(3778), DBT(1629), GJA1(2697), DCC(1630), KCNQ2(3785), ATP7B(540), DBH(1621), ATP7A(538), NDUFS7(374291), NPHP4(261734), KCNJ11(3767), MKKS(8195), FBXO7(25793), OCA2(4948), GPR56(9289), RAPSN(5913), NDRG1(10397), OCRL(4952), BCS1L(617), AAAS(8086), KCNC3(3748), GPR143(4935), ATXN10(25814), CYP27B1(1594), CYP27A1(1593), TUBB3(10381), KCNJ2(3759), DTNBP1(84062), OPA1(4976), ABHD5(51099), GNAS(2778), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), BBS4(585), TNNT1(7138), NDUFAF4(29078), KCNA1(3736), CYBB(1536), NIPBL(25836), ATP13A2(23400), BCHE(590), SIX6(4990), PABPN1(8106), IGHR(8117), BCKDHA(593), BBS10(79738), GM2A(2760), ZFPM2(23414), KDM5C(8242), BCKDHB(594), FAM123B(139285), DOK7(285489), OGDH(4967), MLYCD(23417), SDHAF1(644096), CRB1(23418), PLA2G6(8398), BTD(686), SLC25A22(79751), DMPK(1760), ATL1(51062), ITPR1(3708), ZIC4(84107), ARL6(84100), GATA1(2623), BRAF(673), B4GALT7(11285), BUB1B(701), ALS2(57679), TREX1(11277), GAMT(2593), SLC46A1(113235), DNM2(1785), TCIRG1(10312), TCOF1(6949), GALC(2581), TCN2(6948), BMP4(652), GALE(2582), BCOR(54880), DLAT(1737), DKC1(1736), PARK7(11315), DLD(1738), PRX(57716), FOXL2(668), MKS1(54903), GABRG2(2566), GNPAT(8443), C20orf54(113278), RECQL4(9401), PDHX(8050), MRPS16(51021), ETHE1(23474), DMD(1756), HPS6(79803), POMT2(29954), ZFYVE26(23503), PAX6(5080), INSR(3643), EHMT1(79813), B4GALT1(2683), CYP7B1(9420), PAX3(5077), ZMPSTE24(10269), INS(3630), GPHN(10243), RMRP(6023), DGUOK(1716), CA2(760), GDF1(2657), DHCR7(1717), DGCR(1714), PARK2(5071), AHI1(54806), DYM(54808), CYB5R3(1727), EPM2A(7957), GFAP(2670), ITM2B(9445), COQ9(57017), GCH1(2643), ALG1(56052), GCK(2645), CLCF1(23529), DECR1(1666), SOST(50964), ROBLD3(28956), TIMM8A(1678), GCSH(2653), TFAP2B(7021), TFAP2A(7020), PCCB(5096), ATP6V0A2(23545), GBA(2629), GBE1(2632), CHST3(9469), APTX(54840), PC(5091), GCDH(2639), PCCA(5095), CABC1(56997), MYCN(4613), CLDN19(149461), P2RY12(64805), BBS5(129880), MYH3(4621), SETX(23064), SALL4(57167), GJC2(57165), CAPN3(825), EDNRB(1910), MYF6(4618), IKBKG(8517), IKBKAP(8518), CDKL5(6792), GUCY2D(3000), MYH7(4625), PTCH1(5727), RAB7A(7879), FOXP2(93986), TYMP(1890), CANT1(124583), MYO7A(4647), NIPA1(123606), MYO5A(4644), SEPN1(57190), KIF1B(23095), LRP2(4036), LRP5(4041), PTEN(5728), UPB1(51733), SURF1(6834), MCOLN1(57192), ABCC8(6833), CACNA1A(773), AP3B1(8546), ALDH5A1(7915), NAGA(4668), PTH1R(5745), SUOX(6821), TCAP(8557), CACNA1F(778), CACNA1S(779), DYT3(1863), TOR1A(1861), TAF1(6872), LMNB1(4001), LMNA(4000), ALG6(29929), EVC2(132884), NHLRC1(378884), CYP2R1(120227), LMX1B(4010), PRPS2(5634), SLC26A2(1836), HTT(3064), PSAP(5660), NCF2(4688), PDSS2(57107), SPG20(23111), CUL4B(8450), LPL(4023), PSEN1(5663), NDN(4692), PHF6(84295), BSND(7809), NDUFA1(4694), TREM2(54209), NDUFA2(4695), HCRT(3060), NEB(4703), ATN1(1822), TBP(6908), HPS3(84343), TBX1(6899), ATCAY(85300), PORCN(64840), DRD2(1813), PEX3(8504), NDUFS1(4719), LIFR(3977), EBP(10682), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), HADHB(3032), HADH(3033), OFD1(8481), CLDN16(10686), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), MOGS(7841), DPAGT1(1798), AGRN(375790), NDUFS8(4728), CASR(846), HADHA(3030), PRSS12(8492), HSD17B10(3028), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), CD40(958), CD40LG(959), PEX2(5828), PEX5(5830), NEFL(4747), SCARB2(950), SPG7(6687), NDUFAF2(91942), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), NF1(4763), UQCRQ(27089), NEU1(4758), POMT1(10585), PLEKHG5(57449), LAMB2(3913), NDUFAF3(25915), VPS13A(23230), QDPR(5860), EMD(2010), D2HGDH(728294), NF2(4771), LAMA2(3908), SPTBN2(6712), PNPO(55163), LBR(3930), MLC1(23209), GFM1(85476), JPH3(57338), LAMP2(3920), THAP1(55145), SPR(6697), NHS(4810), PTPN11(5781), PINK1(65018), EGR2(1959), L1CAM(3897), NME1(4830), GSS(2937), EIF2B1(1967), NPHP3(27031), FREM2(341640), CHMP2B(25978), KRT5(3852), KRAS(3845), PTS(5805), MMACHC(25974), EFNB1(1947), SUMF1(285362), AICDA(57379), GRN(2896), PDE8B(8622), SLC34A3(142680), PNP(4860), PNKD(25953), NOTCH3(4854)]
ABNORMALITY OF MUSCLE FIBERS(HP:0004303)	[MYOT(9499), CHAT(1103), RYR1(6261), TRIM32(22954), RAPSN(5913), SDHA(6389), BCS1L(617), SGCG(6445), POLG(5428), FLNC(2318), MUSK(4593), GLI3(2737), COL6A1(1291), PDSS2(57107), CRYAB(1410), MYH7(4625), COL6A2(1292), COL6A3(1293), COQ2(27235), UQCRQ(27089), PDSS1(23590), TYMP(1890), NEB(4703), UQCRB(7381), COLQ(8292), TK2(7084), CHRNA1(1134), CNBP(7555), COQ9(57017), SEPN1(57190), DYSF(8291), TNNT1(7138), C10orf2(56652), SLC25A4(291), CHRNE(1145), CHRND(1144), ACTA1(58), APTX(54840), TCAP(8557), CHRNB1(1140), SDHAF1(644096), CABC1(56997), LDB3(11155)]
ABNORMALITY OF MUSCULATURE(HP:0003011)	[FBN1(2200), FKRP(79147), SUCLG1(8802), FBP1(2203), CHAT(1103), MMADHC(27249), SPINK5(11005), SACS(26278), MCCC2(64087), HSD17B4(3295), H19(283120), DPM1(8813), SLC16A1(6566), TRPM6(140803), SLC16A2(6567), SLC35C1(55343), SLC22A5(6584), KCNQ1OT1(10984), FAH(2184), ABCA1(19), ABAT(18), HRAS(3265), COQ2(27235), DOLK(22845), MATR3(9782), UBR1(197131), GNPTAB(79158), CHRNA1(1134), ACADM(34), ACADS(35), PPARG(5468), ACADL(33), LYST(1130), HSPB1(3315), ACADSB(36), ACADVL(37), SLC5A5(6528), SLC6A8(6535), ACOX1(51), FKTN(2218), MPZ(4359), C20orf7(79133), SLC12A3(6559), CHRNG(1146), MPV17(4358), ACP2(53), CHRNE(1145), SLC12A1(6557), CHRND(1144), ACTA1(58), PUS1(80324), CHRNB1(1140), SNRPN(6638), UPF3B(65109), FH(2271), ZEB2(9839), FGFR3(2261), CDKN1C(1028), POLG(5428), HSPB8(26353), ACY1(95), SOD1(6647), ACVR1(90), C8orf38(137682), SMN1(6606), FOXC2(2303), CNBP(7555), HPRT1(3251), NDUFA11(126328), WNK1(65125), TRPV4(59341), FASTKD2(22868), PMP22(5376), SMS(6611), SMPD1(6609), PRNP(5621), ERBB3(2065), TRIM32(22954), CCT5(22948), SGCB(6443), PRPS1(5631), ERCC6(2074), SGCA(6442), STRA6(64220), PRODH(5625), SGCG(6445), KIAA0196(9897), MTM1(4534), MAP2K1(5604), MAP2K2(5605), TMEM67(91147), MTHFR(4524), HMBS(3145), ADSL(158), FAM126A(84668), HLCS(3141), AGA(175), SPG11(80208), XDH(7498), MTMR2(8898), FGD4(121512), ETFDH(2110), VMA21(203547), ETFB(2109), ETFA(2108), COL1A2(1278), AGL(178), COL1A1(1277), RAB3GAP1(22930), WHCR(7467), WHSC1(7468), ST3GAL5(8869), MVK(4598), CEP290(80184), MUSK(4593), EYA1(2138), MUT(4594), EIF2B2(8892), MED12(9968), EIF2B5(8893), PPT1(5538), TRIM37(4591), EIF2B4(8890), EIF2B3(8891), HEXA(3073), GDAP1(54332), HEXB(3074), CLCN1(1180), SLC4A1(6521), ALAD(210), PCDH15(65217), CLCN7(1186), MFN2(9927), VLDLR(7436), CLCNKB(1188), WISP3(8838), PPP1R3A(5506), WAS(7454), MTRR(4552), ALPL(249), F10(2159), VRK1(7443), AMT(275), VCP(7415), BIN1(274), CPT1A(1374), PGK1(5230), SCN4A(6329), CPOX(1371), SCN9A(6335), PGAM2(5224), ANCR(282), NSD1(64324), VDR(7421), SLC7A7(9056), ALX3(257), COX15(1355), KIF21A(55605), GNE(10020), AMPD1(270), ATXN1(6310), ATXN2(6311), SC5DL(6309), UQCRB(7381), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), AIP(9049), UQCRC1(7384), C10orf2(56652), SCO2(9997), PFKM(5213), SLC25A4(291), SLC17A5(26503), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), MAN2B1(4125), MANBA(4126), PDHA1(5160), COL9A3(1299), SDHA(6389), INPP5E(56623), MECP2(4204), TSFM(10102), PDP1(54704), PDGFRA(5156), COL5A2(1290), COL6A1(1291), COL5A1(1289), COL6A2(1292), LEMD3(23592), COL6A3(1293), PDSS1(23590), COL2A1(1280), FUCA1(2517), UBE3A(7337), PEX26(55670), BSCL2(26580), POMGNT1(55624), VPS13B(157680), UBA1(7317), COX6B1(1340), G6PC(2538), PANK2(80025), IGHMBP2(3508), GAA(2548), AR(367), CHD7(55636), LDB3(11155), ARSA(410), ARSB(411), PLOD1(5351), LARGE(9215), RPS6KA3(6197), MGP(4256), FLNC(2318), PLP1(5354), FLNA(2316), CTNS(1497), IDS(3423), ATXN3(4287), TTN(7273), AASS(10157), PMM2(5373), ASPA(443), LRPPRC(10128), TSPYL1(7259), TSHB(7252), ARX(170302), SLC6A5(9152), MGAT2(4247), PLEC(5339), CTDP1(9150), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), ATIC(471), HSPD1(3329), LMBRD1(55788), MPI(4351), CRYAB(1410), MOCS2(4338), MOCS1(4337), ALG3(10195), MMAB(326625), PHKA1(5255), ALDH7A1(501), PHKB(5257), MMP2(4313), ATP2A1(487), TPM3(7170), TH(7054), SH3TC2(79628), RET(5979), DCX(1641), ATRX(546), MMAA(166785), DDC(1644), GLRB(2743), GAN(8139), GLRA1(2741), VAPB(9217), DCTN1(1639), TGFB1(7040), MCCC1(56922), GLI3(2737), DCR(1637), GLE1(2733), GLDC(2731), NPHP1(4867), GCLC(2729), NPC1(4864), GLB1(2720), SBF2(81846), TK2(7084), COLQ(8292), GPC3(2719), NKX2-1(7080), KIF5A(3798), DYSF(8291), MRPS22(56945), GK(2710), ROR2(4920), GJB1(2705), DDR2(4921), SLC9A6(10479), DBT(1629), KCNQ2(3785), ATP7A(538), NDUFS7(374291), KCNJ11(3767), MKKS(8195), RAPSN(5913), NDRG1(10397), OCRL(4952), BCS1L(617), FGF23(8074), MED25(81857), AAAS(8086), KCNC3(3748), CYP27B1(1594), TNFRSF1A(7132), KCNJ2(3759), KCNJ1(3758), OAT(4942), ABHD5(51099), GNAS(2778), TNFRSF11B(4982), OPHN1(4983), TNNT1(7138), NDUFAF4(29078), KCNA1(3736), PABPN1(8106), BCKDHA(593), GM2A(2760), BCKDHB(594), KDM5C(8242), FAM123B(139285), DOK7(285489), OGDH(4967), TPI1(7167), SDHAF1(644096), MLYCD(23417), BTD(686), PLA2G6(8398), SLC25A22(79751), DMPK(1760), ATL1(51062), GATA1(2623), BRAF(673), GARS(2617), B4GALT7(11285), BUB1B(701), ALS2(57679), TREX1(11277), GAMT(2593), KL(9365), BTK(695), DNM2(1785), TCIRG1(10312), DNMT3B(1789), GALC(2581), TCN2(6948), BMP4(652), GALE(2582), DLAT(1737), GALNT3(2591), DLD(1738), PRX(57716), GNPAT(8443), C20orf54(113278), PDHX(8050), DMGDH(29958), MRPS16(51021), ETHE1(23474), DMD(1756), ISCU(23479), POMT2(29954), ZFYVE26(23503), INSR(3643), EHMT1(79813), ACAD9(28976), B4GALT1(2683), CYP7B1(9420), INS(3630), GPHN(10243), RMRP(6023), DGUOK(1716), DHCR7(1717), DGCR(1714), AHI1(54806), GCH1(2643), COQ9(57017), ALG1(56052), GCK(2645), CLCF1(23529), DECR1(1666), SOST(50964), TIMM8A(1678), GCSH(2653), DES(1674), PCCB(5096), ATP6V0A2(23545), GBE1(2632), APTX(54840), PC(5091), GCDH(2639), CABC1(56997), PCCA(5095), MYOT(9499), SALL4(57167), SETX(23064), GJC2(57165), CAPN3(825), EDNRB(1910), MYF6(4618), IKBKAP(8518), CDKL5(6792), MYH7(4625), RAB7A(7879), PTCH1(5727), TYMP(1890), CANT1(124583), NIPA1(123606), YARS(8565), MYO5A(4644), SLC25A20(788), SEPN1(57190), KIF1B(23095), LRP5(4041), PTEN(5728), UPB1(51733), MCOLN1(57192), SURF1(6834), ABCC8(6833), CACNA1A(773), LITAF(9516), ALDH5A1(7915), NAGA(4668), SUOX(6821), TCAP(8557), CACNA1S(779), TOR1A(1861), ADAMTS2(9509), LMNA(4000), KRIT1(889), ALG6(29929), CYP2R1(120227), LMX1B(4010), PRPS2(5634), PSAP(5660), PDSS2(57107), SPG20(23111), SERPINA6(866), CUL4B(8450), NDN(4692), PHF6(84295), BSND(7809), NDUFA1(4694), NDUFA2(4695), HCRT(3060), NEB(4703), ANKH(56172), TBCE(6905), TBX1(6899), CAV3(859), ATCAY(85300), PEX3(8504), NDUFS1(4719), TAZ(6901), LIFR(3977), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), HADHB(3032), HADH(3033), OFD1(8481), NDUFS6(4726), CLDN16(10686), NDUFS4(4724), MOGS(7841), DPAGT1(1798), AGRN(375790), NDUFS8(4728), CASR(846), HADHA(3030), HSD17B10(3028), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), SLC19A2(10560), PEX5(5830), NEFL(4747), SPG7(6687), NDUFAF2(91942), PYGM(5837), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), NF1(4763), UQCRQ(27089), ENO3(2027), NEU1(4758), POMT1(10585), ANO5(203859), LPIN1(23175), PLEKHG5(57449), LAMB2(3913), GPI(2821), NDUFAF3(25915), VPS13A(23230), QDPR(5860), EMD(2010), D2HGDH(728294), LAMA2(3908), PNPO(55163), LAMP2(3920), SPR(6697), TNFSF11(8600), EGR2(1959), GSN(2934), EIF2B1(1967), NLRP3(114548), KRAS(3845), PTS(5805), EFNB1(1947), MMACHC(25974), SEMA3E(9723), PNP(4860), SLC34A3(142680), AGPAT2(10555), SPTLC1(10558)]
ABNORMALITY OF NEUTROPHIL(HP:0001874)	[CD40(958), CD40LG(959), MMAA(166785), LMBRD1(55788), CIITA(4261), RMRP(6023), CEBPE(1053), SBDS(51119), FANCD2(2177), FANCC(2176), FANCE(2178), FMO3(2328), SMARCAL1(50485), TCN2(6948), SLC37A4(2542), MMAB(326625), AGA(175), FANCA(2175), FTCD(10841), RFXANK(8625), MMACHC(25974), PCCB(5096), RFX5(5993), LBR(3930), RFXAP(5994), AP3B1(8546), ELANE(1991), WAS(7454), PNP(4860), FAS(355), CASP10(843), CXCR4(7852), SLC35A1(10559), PCCA(5095)]
ABNORMALITY OF OCULAR SMOOTH PURSUIT(HP:0000617)	[PRNP(5621), TMEM216(51259), ATXN8(724066), TBP(6908), SACS(26278), SETX(23064), INPP5E(56623), SPTBN2(6712), FGF14(2259), ATXN8OS(6315), CACNA1A(773), ATXN3(4287), ALS2(57679), ATXN2(6311), MAN2B1(4125)]
ABNORMALITY OF PALATE(HP:0000174)	[FBN1(2200), MYCN(4613), RET(5979), TBX4(9496), FKRP(79147), FBN2(2201), ATRX(546), TGIF1(7050), BBS5(129880), ATR(545), MYH3(4621), CCBE1(147372), TGFBR1(7046), NSD1(64324), HSD17B4(3295), DPM1(8813), GLI3(2737), SATB2(23314), ESCO2(157570), ALX3(257), HRAS(3265), ADAMTS10(81794), PTCH1(5727), CRLF1(9244), RPGRIP1L(23322), GNE(10020), BBS9(27241), SC5DL(6309), CHRNA1(1134), SEPN1(57190), GPC3(2719), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), B3GALTL(145173), PTEN(5728), DDR2(4921), FKTN(2218), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), SLC17A5(26503), CHRNE(1145), CHRND(1144), CREBBP(1387), ACTA1(58), PUS1(80324), SLC12A6(9990), RAB23(51715), PROKR2(128674), CHRNB1(1140), DBH(1621), CPT2(1376), ACTB(60), ATP7A(538), MKKS(8195), UPF3B(65109), FH(2271), LMNA(4000), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), NBN(4683), MECP2(4204), FGFR2(2263), BBS12(166379), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), COL6A1(1291), CECR(1055), COL6A2(1292), IGBP1(3476), COL6A3(1293), KCNJ2(3759), FGD1(2245), COL2A1(1280), CBS(875), ACVRL1(94), PQBP1(10084), GDF6(392255), PEX26(55670), TTC8(123016), NEB(4703), FOXC2(2303), UBB(7314), VPS13B(157680), ABCC6(368), KAL1(3730), BBS1(582), BBS2(583), TNNI2(7136), TBX1(6899), BBS4(585), PORCN(64840), PEX3(8504), TNNT3(7140), NIPBL(25836), RUNX2(860), BBS10(79738), OFD1(8481), FAM123B(139285), BBS7(55212), DOK7(285489), MOGS(7841), RB1(5925), SMS(6611), CHD7(55636), PEX19(5824), ABCD3(5825), EP300(2033), FOXE1(2304), PEX2(5828), TWIST1(7291), LARGE(9215), PEX5(5830), TBX15(6913), TRIM32(22954), RPS6KA3(6197), ARL6(84100), BRAF(673), FLNA(2316), MTM1(4534), FLNB(2317), MAP2K1(5604), MAP2K2(5605), MID1(4281), BUB1B(701), SOX9(6662), ENG(2022), SLC35D1(23169), POMT1(10585), TCOF1(6949), HOXA2(3199), BMP4(652), BCOR(54880), IRF6(3664), FOXL2(668), LBR(3930), MKS1(54903), MSX2(4488), GNPAT(8443), RECQL4(9401), PDHX(8050), CTSK(1513), POMT2(29954), TRPS1(7227), WHCR(7467), RYR1(6261), CD96(10225), SEPT9(10801), INSR(3643), WHSC1(7468), SIX3(6496), CEP290(80184), LMBRD1(55788), MUSK(4593), PAX3(5077), ZMPSTE24(10269), EYA1(2138), DHCR24(1718), PTPN11(5781), MED12(9968), DHCR7(1717), DGCR(1714), FAM20C(56975), WNT3(7473), FREM2(341640), PAK3(5063), FRAS1(80144), SHH(6469), ALG3(10195), STAT3(6774), CLCF1(23529), HYAL1(3373), TP63(8626), KRAS(3845), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), EFNB1(1947), SHOX(6473), EIF2AK3(9451), TPM2(7169), PVRL1(5818)]
ABNORMALITY OF PAROTID GLAND(HP:0000197)	[TCOF1(6949), FGF10(2255), TP63(8626), FGFR3(2261)]
ABNORMALITY OF PERIAURICULAR REGION(HP:0000383)	[TCOF1(6949), WHCR(7467), SALL1(6299), GPC3(2719), WHSC1(7468), FGFR1(2260), FGFR2(2263), B3GALTL(145173), TFAP2A(7020), EIF2AK3(9451), FLNB(2317), EYA1(2138), GLI3(2737), ZFPM2(23414), ALX3(257), GDF1(2657), CECR(1055), KCNJ2(3759), RAB23(51715), JAG1(182), NKX2-5(1482)]
ABNORMALITY OF PHALANGEAL JOINTS OF THE HAND(HP:0006261)	[FBN1(2200), FBN2(2201), ABCD3(5825), PEX2(5828), LARGE(9215), TBX15(6913), TGFBR1(7046), CCBE1(147372), SALL4(57167), MYH3(4621), NSD1(64324), ERCC6(2074), GLI3(2737), ITGB4(3691), ALX3(257), CRLF1(9244), GNPTAB(79158), LAMB3(3914), NOD2(64127), LAMC2(3918), UROS(7390), ROR2(4920), LAMA3(3909), GJA1(2697), CHRNG(1146), POR(5447), RAB23(51715), HSPG2(3339), TRPS1(7227), WFS1(7466), CD96(10225), COL17A1(1308), RAPSN(5913), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), COL11A2(1302), MED12(9968), CDH3(1001), L1CAM(3897), DYM(54808), PQBP1(10084), ADAMTSL2(9719), TNNI2(7136), TP63(8626), WISP3(8838), TNNT3(7140), LIFR(3977), HOXD13(3239), MMP2(4313), FAM123B(139285), IGHMBP2(3508), DOK7(285489), TPM2(7169), CHST3(9469)]
ABNORMALITY OF PROTEOGLYCAN METABOLISM(HP:0004355)	[IDS(3423), SGSH(6448), ARSB(411), GUSB(2990), HGSNAT(138050), GNS(2799), NAGLU(4669)]
ABNORMALITY OF PURINE METABOLISM(HP:0004352)	[HPRT1(3251), PPARG(5468), SLC37A4(2542), TNFRSF11B(4982), UOX(391051), G6PC(2538), ALDOB(229), PRPS1(5631), PRPS2(5634), PPP1R3A(5506), GPHN(10243), PFKM(5213), CLDN16(10686), SLC22A12(116085), HNF1B(6928), SLC17A3(10786), SLC2A2(6514), ALMS1(7840), UMOD(7369), MOCS2(4338), MOCS1(4337)]
ABNORMALITY OF PYRIMIDINE METABOLISM(HP:0004353)	[DPYD(1806), DPYS(1807), FANCD2(2177), FANCA(2175), FANCC(2176), FANCE(2178)]
ABNORMALITY OF REFRACTION(HP:0000539)	[ERBB3(2065), FBN1(2200), CLDN19(149461), PLOD1(5351), FBN2(2201), FKRP(79147), RPGR(6103), BBS5(129880), TRIM32(22954), ARL6(84100), NSD1(64324), PRPS1(5631), ERCC6(2074), BRAF(673), MAP2K1(5604), MAP2K2(5605), NOG(9241), MITF(4286), ADAMTS10(81794), GNPTAB(79158), BBS9(27241), OPTN(10133), LRP2(4036), MYOC(4653), B3GALTL(145173), PTEN(5728), SLC6A8(6535), BFSP2(8419), VSX1(30813), FOXL2(668), MKS1(54903), GJA8(2703), RECQL4(9401), ZNF469(84627), COL1A1(1277), CACNA1F(778), JAG1(182), ADAMTS2(9509), HSPG2(3339), MKKS(8195), SNRPN(6638), GRM6(2916), CNGB3(54714), ERCC8(1161), NYX(60506), CEP290(80184), BBS12(166379), COL11A1(1301), PRPS2(5634), COL18A1(80781), COL5A2(1290), PTPN11(5781), TRIM37(4591), COL5A1(1289), NDN(4692), FGD1(2245), TEAD1(7003), COL2A1(1280), CBS(875), OAT(4942), TTC8(123016), SMARCAL1(50485), POMGNT1(55624), VPS13B(157680), CYP1B1(1545), ABCC6(368), PCNT(5116), BBS1(582), BBS2(583), BBS4(585), KRAS(3845), TIMM8A(1678), NIPBL(25836), TFAP2A(7020), TRPV4(59341), BBS10(79738), KDM5C(8242), TYR(7299), CLDN16(10686), BBS7(55212), CRB1(23418)]
ABNORMALITY OF RETICULOCYTES(HP:0004312)	[TCN2(6948), PGK1(5230), PKLR(5313), FANCA(2175), GATA1(2623), ANK1(286), PFKM(5213), ADAMTS13(11093), FANCD2(2177), FANCC(2176), RPS19(6223), CFH(3075), FANCE(2178), SLC4A1(6521)]
ABNORMALITY OF RETINAL ARTERIES(HP:0000630)	[BEST1(7439), PRPF3(9129), COL4A1(1282)]
ABNORMALITY OF SACCADIC EYE MOVEMENTS(HP:0000570)	[TMEM216(51259), MFN2(9927), ATXN8(724066), INPP5E(56623), TSEN54(283989), FGF14(2259), ATXN7(6314), ATXN8OS(6315), NPHP1(4867), ATXN3(4287), GBA(2629), APTX(54840), ATXN1(6310), ATXN2(6311)]
ABNORMALITY OF SECONDARY SEXUAL HAIR(HP:0009888)	[GJB6(10804), APOE(348), AR(367)]
ABNORMALITY OF SERUM AMINO ACID LEVELS(HP:0003112)	[AMT(275), PDHA1(5160), MMAB(326625), MMAA(166785), MMADHC(27249), DECR1(1666), GCSH(2653), MMACHC(25974), MUT(4594), PCCB(5096), GLDC(2731), GUCY2D(3000), AASS(10157), PDHX(8050), MTR(4548), PC(5091), PCCA(5095)]
ABNORMALITY OF SKELETAL MATURATION(HP:0000927)	[PEX19(5824), EP300(2033), ATRX(546), PEX5(5830), RPS6KA3(6197), ATR(545), CCBE1(147372), NSD1(64324), HSD17B4(3295), H19(283120), BRAF(673), CTNS(1497), GLI3(2737), FLNB(2317), MAP2K1(5604), MAP2K2(5605), SLC7A7(9056), BTK(695), MC2R(4158), UBR1(197131), CANT1(124583), GPC3(2719), AGA(175), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), TSHR(7253), ROR2(4920), CREBBP(1387), ACAN(176), GH1(2688), GHR(2690), HSPG2(3339), TRPS1(7227), WHCR(7467), CD96(10225), INSR(3643), WHSC1(7468), LHX4(89884), GDF5(8200), MMP13(4322), IGF1(3479), SBDS(51119), KCNJ2(3759), IGF1R(3480), CYP19A1(1588), TRH(7200), PEX26(55670), CYP11B1(1584), BSCL2(26580), TBCE(6905), PCNT(5116), KRAS(3845), PEX3(8504), NIPBL(25836), TRPV4(59341), ALMS1(7840), CUL7(9820), AGPAT2(10555), CHST3(9469), PAX8(7849)]
ABNORMALITY OF SKIN PIGMENTATION(HP:0001000)	[DDB2(1643), RET(5979), TINF2(26277), ANCR(282), HPS5(11234), H19(283120), EDNRB(1910), FERMT1(55612), EDA(1896), CDKL5(6792), SNAI2(6591), STK11(6794), FANCD2(2177), FANCC(2176), FANCE(2178), MC2R(4158), UBR1(197131), MSH6(2956), MYO5A(4644), LYST(1130), KIF1B(23095), UROD(7389), SEC23A(10484), UROS(7390), PTEN(5728), AP3B1(8546), SLC17A5(26503), CREBBP(1387), ATP7A(538), SNRPN(6638), LMNA(4000), OCA2(4948), SDHD(6392), FGFR3(2261), SDHB(6390), NHP2(55651), NBN(4683), MECP2(4204), POLH(5429), AIRE(326), AAAS(8086), APC(324), SOS1(6654), NDN(4692), GPR143(4935), COL4A1(1282), UBE3A(7337), MEN1(4221), DTNBP1(84062), CYP11B1(1584), ADAR(103), MSH2(4436), GNAS(2778), HPS3(84343), PMS2(5395), PORCN(64840), HPS1(3257), LIFR(3977), PANK2(80025), TYR(7299), TYRP1(7306), EP300(2033), ERCC2(2068), ERCC3(2071), ERCC4(2072), ERCC6(2074), SOX10(6663), BLOC1S3(388552), MITF(4286), NF1(4763), PAH(5053), BLM(641), TSC1(7248), TSC2(7249), NF2(4771), RAB27A(5873), PRKAR1A(5573), NR0B1(190), MRAP(56246), KITLG(4254), RECQL4(9401), XPC(7508), XPA(7507), HPS6(79803), GJB6(10804), ATM(472), PIK3CA(5290), ERCC8(1161), PAX3(5077), ZMPSTE24(10269), PTPN11(5781), HGD(3081), ABCD1(215), HFE(3077), NOP10(55505), SMARCAL1(50485), KRT5(3852), PCNT(5116), TERC(7012), TERT(7015), MLH1(4292), FANCA(2175), TP63(8626), ROBLD3(28956), VHL(7428), MMP2(4313), GBA(2629), HPS4(89781), KRT14(3861), KRT10(3858)]
ABNORMALITY OF SKIN TEXTURE(HP:0010647)	[EDA(1896), PLOD1(5351), TNXB(7148), TGFBR1(7046), COL1A2(1278), COL3A1(1281), ATP7A(538), ADAMTS2(9509)]
ABNORMALITY OF SKULL OSSIFICATION(HP:0002703)	[TNFSF11(8600), GNAS(2778), TBCE(6905), HGSNAT(138050), TRIP11(9321), SOST(50964), CRTAP(10491), PTEN(5728), ZMPSTE24(10269), SGSH(6448), LBR(3930), CA2(760), ALMS1(7840), ALPL(249), NAGLU(4669), COL1A1(1277), LEPRE1(64175)]
ABNORMALITY OF SKULL SHAPE(HP:0002648)	[MYCN(4613), FBN1(2200), FBN2(2201), ATRX(546), NPR2(4882), MYH3(4621), CCBE1(147372), TGFBR1(7046), NSD1(64324), ANCR(282), VDR(7421), HSD17B4(3295), H19(283120), DPM1(8813), EDARADD(128178), DCR(1637), GLI3(2737), EDA(1896), ESCO2(157570), KCNQ1OT1(10984), CDKL5(6792), ADAMTS10(81794), PTCH1(5727), GNE(10020), UBR1(197131), GNPTAB(79158), GLB1(2720), PEX10(5192), DYNC2H1(79659), PEX14(5195), RAB39B(116442), PEX13(5194), SEC23A(10484), PEX1(5189), PEX7(5191), B3GALTL(145173), ROR2(4920), DDR2(4921), ACOX1(51), RAB3GAP2(25782), GJA1(2697), CREBBP(1387), POR(5447), RAI1(10743), SLC12A6(9990), RAB23(51715), PTH1R(5745), CPT2(1376), MAN2B1(4125), ATP7A(538), ACTB(60), SNRPN(6638), UPF3B(65109), PDHA1(5160), FH(2271), FGFR1(2260), FGFR3(2261), INPP5E(56623), MECP2(4204), FGFR2(2263), CDKN1C(1028), CYP2R1(120227), PRPS2(5634), FGF10(2255), NDN(4692), CYP27B1(1594), IGBP1(3476), KCNJ2(3759), GPC6(10082), KCNJ1(3758), FUCA1(2517), UBE3A(7337), EDAR(10913), PQBP1(10084), PEX26(55670), TBCE(6905), SMCR(6600), OPHN1(4983), PEX3(8504), NIPBL(25836), LIFR(3977), RUNX2(860), EBP(10682), ZFPM2(23414), OFD1(8481), FAM123B(139285), MOGS(7841), CUL7(9820), PEX19(5824), ABCD3(5825), PLA2G6(8398), ARSB(411), EP300(2033), PLOD1(5351), PEX2(5828), TWIST1(7291), PEX5(5830), GATA1(2623), PRPS1(5631), BRAF(673), FLNA(2316), CTNS(1497), FLNB(2317), MAP2K1(5604), IDS(3423), MAP2K2(5605), MID1(4281), BUB1B(701), SOX9(6662), SOX2(6657), MAPK10(5602), PMM2(5373), NKX2-5(1482), TCIRG1(10312), FMR1(2332), BMP4(652), AGA(175), LRPPRC(10128), D2HGDH(728294), BLM(641), ETFDH(2110), ETFB(2109), ETFA(2108), LBR(3930), DLX3(1747), GNPAT(8443), RECQL4(9401), PDHX(8050), COL1A1(1277), CTSK(1513), JAG1(182), DMP1(1758), WHCR(7467), CD96(10225), EHMT1(79813), WHSC1(7468), ATIC(471), MVK(4598), MED12(9968), DHCR24(1718), RMRP(6023), GDF1(2657), TRIM37(4591), DYM(54808), FREM2(341640), FRAS1(80144), PHEX(5251), STAT3(6774), SOST(50964), TP63(8626), KRAS(3845), TFAP2B(7021), TFAP2A(7020), EFNB1(1947), MMACHC(25974), ATP6V0A2(23545), MMP2(4313), SLC34A3(142680), ALPL(249)]
ABNORMALITY OF SKULL SIZE(HP:0000240)	[FBN1(2200), FKRP(79147), CENPJ(55835), ATRX(546), ATR(545), HSD17B4(3295), DPM1(8813), ACE(1636), REN(5972), GLI3(2737), SLC16A2(6567), SLC35C1(55343), HRAS(3265), FANCD2(2177), DOLK(22845), FANCC(2176), FANCE(2178), EMG1(10436), UBR1(197131), BBS9(27241), GPC3(2719), ACADSB(36), B3GALTL(145173), ROR2(4920), SLC6A8(6535), MCPH1(79648), FKTN(2218), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), C20orf7(79133), GJA1(2697), MPV17(4358), POR(5447), PUS1(80324), ATP7A(538), MKKS(8195), FH(2271), UPF3B(65109), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), AAAS(8086), KCNJ2(3759), KCNJ1(3758), ASPM(259266), TNFRSF11B(4982), BBS1(582), BBS2(583), OPHN1(4983), BBS4(585), NDUFA11(126328), NDUFAF4(29078), NIPBL(25836), BBS10(79738), SNAP29(9342), KDM5C(8242), FAM123B(139285), SLC25A22(79751), ERCC2(2068), TRIM32(22954), ERCC3(2071), ARL6(84100), ERCC6(2074), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), MAP2K2(5605), BUB1B(701), MTHFR(4524), MAPK10(5602), TREX1(11277), TCIRG1(10312), PAH(5053), AGA(175), DLAT(1737), DKC1(1736), BLM(641), PSAT1(29968), ETFDH(2110), ETFB(2109), ETFA(2108), MKS1(54903), AGTR1(185), GNPAT(8443), PDHX(8050), ZNF469(84627), KIAA1279(26128), AGT(183), RAB3GAP1(22930), XPA(7507), POMT2(29954), GAD1(2571), WHCR(7467), EHMT1(79813), WHSC1(7468), SIX3(6496), ERCC8(1161), B4GALT1(2683), MVK(4598), CEP290(80184), PAX3(5077), EIF2B2(8892), MED12(9968), DHCR24(1718), EIF2B5(8893), DGUOK(1716), PPT1(5538), DHCR7(1717), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), FAM20C(56975), DYM(54808), CYB5R3(1727), HEXB(3074), GFAP(2670), PAK3(5063), PHGDH(26227), NOP10(55505), FRAS1(80144), SHH(6469), ALG1(56052), PCNT(5116), FANCA(2175), TSEN54(283989), TFAP2A(7020), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), GCDH(2639), MYCN(4613), GUSB(2990), BBS5(129880), MYH3(4621), ANCR(282), NSD1(64324), ESCO2(157570), IKBKG(8517), CDKL5(6792), AURKC(6795), PTCH1(5727), IHH(3549), SC5DL(6309), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), MCOLN1(57192), C10orf2(56652), AP3B1(8546), CREBBP(1387), SIL1(64374), CPT2(1376), MAN2B1(4125), PDHA1(5160), HCCS(3052), NHP2(55651), NBN(4683), INPP5E(56623), MECP2(4204), PHF6(84295), IGF1(3479), NDUFA1(4694), IGBP1(3476), IGF1R(3480), UBE3A(7337), RELN(5649), SYN1(6853), PQBP1(10084), TTC8(123016), PEX26(55670), TBCE(6905), VPS13B(157680), TBX1(6899), PORCN(64840), PEX3(8504), NDUFS1(4719), TUBA1A(7846), NDUFV1(4723), NDUFS2(4720), OFD1(8481), BBS7(55212), NDUFS6(4726), NDUFS4(4724), DPAGT1(1798), CHD7(55636), PEX19(5824), ARSB(411), EP300(2033), ARSE(415), LARGE(9215), PEX5(5830), RPS6KA3(6197), PLP1(5354), NDUFAF2(91942), IDS(3423), SOX9(6662), SOX2(6657), NF1(4763), SLC35D1(23169), PMM2(5373), POMT1(10585), FMR1(2332), ASPA(443), NDUFAF3(25915), D2HGDH(728294), SP110(3431), PNPO(55163), CTSD(1509), LBR(3930), MLC1(23209), GFM1(85476), ARX(170302), PLG(5340), MGAT2(4247), SPR(6697), CD96(10225), HSPD1(3329), L1CAM(3897), EIF2B1(1967), FREM2(341640), ALG3(10195), CDK5RAP2(55755), KRAS(3845), MMACHC(25974), SEMA3E(9723)]
ABNORMALITY OF SOMATOSENSORY EVOKED POTENTIALS(HP:0007377)	[FKRP(79147), CD96(10225), LARGE(9215), EVC2(132884), HYLS1(219844), EBP(10682), FKTN(2218), MKS1(54903), DHCR7(1717), BUB1B(701), PLG(5340), NPHP3(27031), POMT1(10585), EVC(2121), POMT2(29954)]
ABNORMALITY OF SUBCUTANEOUS FAT TISSUE(HP:0001001)	[FBN1(2200), LMNB2(84823), PPARG(5468), FH(2271), ERCC2(2068), LMNA(4000), ERCC3(2071), TGFB1(7040), ZMPSTE24(10269), PPP1R3A(5506), GTF2H5(404672), SLC2A2(6514), PMM2(5373)]
ABNORMALITY OF SULFUR-CONTAINING AMINO ACIDS(HP:0004339)	[MMADHC(27249), MAT1A(4143), LMBRD1(55788), MMACHC(25974), FAH(2184), GPHN(10243), MTHFR(4524), GNMT(27232), AHCY(191), MTRR(4552), MTR(4548), SUOX(6821), MOCS2(4338), MOCS1(4337)]
ABNORMALITY OF SUPEROXIDE METABOLISM(HP:0004358)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
ABNORMALITY OF T-CELLS(HP:0002843)	[AK2(204), CD40LG(959), ATM(472), TNFRSF13B(23495), CIITA(4261), DGCR(1714), RAG2(5897), RAG1(5896), DNMT3B(1789), SMARCAL1(50485), CD8A(925), SLC39A4(55630), TBX1(6899), RFXANK(8625), IL2RG(3561), RFX5(5993), RAB27A(5873), RFXAP(5994), WAS(7454), PNP(4860), FAS(355), UMPS(7372), CASP10(843), CASP8(841), ICOS(29851)]
ABNORMALITY OF TASTE SENSATION(HP:0000223)	[WNK1(65125), IKBKAP(8518)]
ABNORMALITY OF TEAR GLANDS OR TEAR PRODUCTION(HP:0000521)	[NOP10(55505), TCOF1(6949), FRAS1(80144), EP300(2033), SCN9A(6335), TWIST1(7291), ERCC8(1161), TP63(8626), DKC1(1736), FGFR3(2261), NHP2(55651), FGFR2(2263), ERCC6(2074), TFAP2A(7020), EYA1(2138), AAAS(8086), IKBKAP(8518), FGF10(2255), CREBBP(1387), FREM2(341640), UBR1(197131)]
ABNORMALITY OF TEETH SPACING(HP:0006478)	[RPS6KA3(6197), ZEB2(9839), TP63(8626), GALNS(2588), ANCR(282), MECP2(4204), NIPBL(25836), VSX1(30813), IDS(3423), CDH3(1001), COL5A2(1290), DLX3(1747), COL5A1(1289), CDKL5(6792), FGF3(2248), CHST3(9469), UBE3A(7337), COL1A1(1277), EVC(2121), MAN2B1(4125), ACVR1(90), GLB1(2720)]
ABNORMALITY OF TEMPERATURE REGULATION(HP:0004370)	[PRNP(5621), DDC(1644), SCN1A(6323), AVPR2(554), EDARADD(128178), HMGCL(3155), EDA(1896), IKBKAP(8518), TREX1(11277), CHRNA1(1134), ACADSB(36), NTRK1(4914), C10orf2(56652), GABRG2(2566), CACNA1A(773), ADAMTS13(11093), CHRNG(1146), SPINK1(6690), MPV17(4358), SLC12A1(6557), CHRND(1144), KCNQ2(3785), COL1A1(1277), DBH(1621), ATP7A(538), ATP1A3(478), PRSS1(5644), RYR1(6261), ATP1A2(477), RAPSN(5913), NGF(4803), HSPD1(3329), EIF2B2(8892), EIF2B5(8893), DGUOK(1716), MEFV(4210), EIF2B4(8890), TNFRSF1A(7132), NME1(4830), EIF2B3(8891), KCNJ1(3758), EIF2B1(1967), CFH(3075), EDAR(10913), CYP11B2(1585), NLRP3(114548), LIFR(3977), AQP2(359), ALPL(249), GAA(2548), PAX8(7849)]
ABNORMALITY OF THE 1ST METACARPAL(HP:0010009)	[NOG(9241), PCNT(5116), HOXA13(3209), SALL4(57167), GDF5(8200), IHH(3549), CANT1(124583), ACVR1(90)]
ABNORMALITY OF THE 1ST METATARSAL(HP:0010054)	[TWIST1(7291), FGFR2(2263), CANT1(124583)]
ABNORMALITY OF THE 2ND FINGER(HP:0004100)	[MYCN(4613), GDF5(8200), IHH(3549), BMPR1B(658), FLNA(2316)]
ABNORMALITY OF THE 2ND METACARPAL(HP:0010010)	[RUNX2(860)]
ABNORMALITY OF THE 3RD FINGER(HP:0004150)	[GDF5(8200), IHH(3549)]
ABNORMALITY OF THE 3RD METACARPAL(HP:0010011)	[LBR(3930)]
ABNORMALITY OF THE 3RD TOE(HP:0010320)	[SALL1(6299)]
ABNORMALITY OF THE 4TH FINGER(HP:0004188)	[IHH(3549)]
ABNORMALITY OF THE 4TH METACARPAL(HP:0010012)	[LBR(3930), GLI3(2737)]
ABNORMALITY OF THE 5TH FINGER(HP:0004207)	[MYCN(4613), EP300(2033), TWIST1(7291), BBS5(129880), TBX15(6913), TRIM32(22954), ATR(545), GATA1(2623), ARL6(84100), TGFBR1(7046), TBX3(6926), LMBR1(64327), H19(283120), FLNA(2316), DCR(1637), FLNB(2317), GLI3(2737), ALX3(257), RPGRIP1L(23322), IHH(3549), EMG1(10436), UBR1(197131), NKX2-5(1482), BBS9(27241), SC5DL(6309), GPC3(2719), TMEM216(51259), B3GALTL(145173), ROR2(4920), BLM(641), LBR(3930), MKS1(54903), GJA1(2697), CREBBP(1387), RAB23(51715), JAG1(182), BMPR1B(658), MKKS(8195), CD96(10225), EVC2(132884), INPP5E(56623), GDF5(8200), FGFR2(2263), CEP290(80184), BBS12(166379), LMX1B(4010), GDF1(2657), DHCR7(1717), HOXA11(3207), KCNJ2(3759), HOXA13(3209), WNT7A(7476), EVC(2121), PQBP1(10084), TTC8(123016), ACVR1(90), PCNT(5116), BBS1(582), BBS2(583), BBS4(585), PORCN(64840), HYLS1(219844), TFAP2B(7021), TFAP2A(7020), NIPBL(25836), EFNB1(1947), BBS10(79738), ZFPM2(23414), OFD1(8481), HOXD13(3239), FAM123B(139285), BBS7(55212), CUL7(9820), DPAGT1(1798), CHST3(9469)]
ABNORMALITY OF THE 5TH METACARPAL(HP:0010013)	[LBR(3930)]
ABNORMALITY OF THE 5TH TOE(HP:0010322)	[LBR(3930), CD96(10225), DHCR7(1717), HOXD13(3239), RPGRIP1L(23322), LMBR1(64327), EVC(2121), SC5DL(6309), GLI3(2737)]
ABNORMALITY OF THE ABDOMEN(HP:0001438)	[FBN1(2200), FKRP(79147), FBP1(2203), CHAT(1103), TINF2(26277), VPS33B(26276), SPINK5(11005), PPOX(5498), CCBE1(147372), HSD17B4(3295), H19(283120), DPM1(8813), SLC16A1(6566), DNAJC19(131118), SLC16A2(6567), FAH(2184), KCNQ1OT1(10984), SLC22A5(6584), ABCA1(19), HRAS(3265), GNMT(27232), SNAI2(6591), CTSA(5476), MATR3(9782), UBR1(197131), BBS9(27241), GNPTAB(79158), ACADM(34), CHRNA1(1134), FECH(2235), ACADS(35), PPARG(5468), ACADL(33), LYST(1130), ACAT1(38), ACADVL(37), NEUROG3(50674), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), MPL(4352), MPZ(4359), C20orf7(79133), CHRNG(1146), MPV17(4358), ACP2(53), CHRNE(1145), SLC12A1(6557), CHRND(1144), POR(5447), ACTA1(58), CHRNB1(1140), ACTB(60), SNRPN(6638), ZEB2(9839), FGFR1(2260), FGFR2(2263), BBS12(166379), CDKN1C(1028), POLG(5428), CDKN2A(1029), CECR(1055), FGD1(2245), FGB(2244), ACVRL1(94), FGA(2243), HPRT1(3251), MSH2(4436), ADA(100), PNLIP(5406), PMS2(5395), NDUFA11(126328), HPS1(3257), WNK1(65125), CFTR(1080), HOXD13(3239), FASTKD2(22868), CUL7(9820), HPD(3242), SMPD1(6609), PRNP(5621), ERBB2(2064), ABCA12(26154), ERCC2(2068), TRIM32(22954), ERCC3(2071), PHOX2B(8929), ERCC4(2072), STRA6(64220), ERCC6(2074), HMGCL(3155), MTM1(4534), MAP2K1(5604), SGSH(6448), MAP2K2(5605), TMEM67(91147), BLOC1S3(388552), HMBS(3145), MAPK10(5602), ZIC3(7547), ABCC2(1244), HLCS(3141), PRKCSH(5589), AGA(175), ABCG8(64241), SPG11(80208), ABCG5(64240), AFP(174), WT1(7490), ETFDH(2110), ETFB(2109), ETFA(2108), PRKCG(5582), AGL(178), COL1A2(1278), COL1A1(1277), KIAA1279(26128), JAG1(182), WHCR(7467), WFS1(7466), HK1(3098), WHSC1(7468), SIX3(6496), ERCC8(1161), ST3GAL5(8869), CEP290(80184), MVK(4598), MUSK(4593), MUTYH(4595), EYA1(2138), MUT(4594), MED12(9968), TRIM37(4591), NCF1(653361), SLC17A3(10786), SLC2A2(6514), SLC5A2(6524), WNT3(7473), HEXB(3074), CFH(3075), SLC4A1(6521), HFE(3077), ALAD(210), SLC5A1(6523), NOP10(55505), SMARCAL1(50485), FRAS1(80144), ALDOB(229), SI(6476), TSEN54(283989), ALDOA(226), VHL(7428), PPP1R3A(5506), VWF(7450), WAS(7454), ALPL(249), F9(2158), MCEE(84693), MTR(4548), MNX1(3110), MTTP(4547), LEPRE1(64175), BIN1(274), CPT1A(1374), CPS1(1373), SCN9A(6335), CPOX(1371), CLDN1(9076), NAGS(162417), NSD1(64324), ANCR(282), HPS5(11234), VDR(7421), MAPT(4137), ANK1(286), ATXN7(6314), ESCO2(157570), ATXN8OS(6315), SLC7A7(9056), ABCB4(5244), GNE(10020), ATXN1(6310), ATXN2(6311), AMH(268), AMHR2(269), SC5DL(6309), UQCRB(7381), SALL1(6299), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), UROD(7389), PSTPIP1(9051), UROS(7390), IL2RG(3561), NUP62(23636), CRH(1392), C10orf2(56652), SCO2(9997), PFKM(5213), FSHR(2492), SLC17A5(26503), SEC63(11231), CREBBP(1387), ATP8B1(5205), CPT2(1376), MAN2B1(4125), IFNGR1(3459), TREH(11181), APOB(338), NHP2(55651), INPP5E(56623), APOE(348), MECP2(4204), TSFM(10102), PDP1(54704), AMACR(23600), PDGFRL(5157), APOC2(344), PDGFRA(5156), AIRE(326), COL5A2(1290), COL4A6(1288), APC(324), COL5A1(1289), COL7A1(1294), MEFV(4210), GPC6(10082), APOA1(335), COL2A1(1280), FUCA1(2517), MEN1(4221), COL3A1(1281), UBE3A(7337), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), SLC37A4(2542), VPS13B(157680), UBA1(7317), SLC39A4(55630), ABCC6(368), COX6B1(1340), G6PD(2539), G6PC(2538), ARG1(383), MCM6(4175), PCSK1(5122), AQP2(359), PANK2(80025), IGHMBP2(3508), CDAN1(146059), FAS(355), GAA(2548), SCNN1G(6340), IGKC(3514), AR(367), KLF6(1316), UGT1A1(54658), SCNN1A(6337), CHD7(55636), SCNN1B(6338), SLC25A15(10166), ARSA(410), PLOD1(5351), ARSB(411), SLC25A13(10165), LARGE(9215), RPS6KA3(6197), CTNNB1(1499), FLNA(2316), PLOD2(5352), CIITA(4261), CTNS(1497), IDS(3423), MID1(4281), TTR(7276), ATXN3(4287), MITF(4286), PMM2(5373), FMO3(2328), MET(4233), LRPPRC(10128), ASS1(445), PKLR(5313), PKHD1(5314), TSPYL1(7259), TSHB(7252), ASL(435), SP110(3431), CYBA(1535), ASAH1(427), ARX(170302), ASCL1(429), MBTPS2(51360), PLG(5340), SLC6A5(9152), ATP1A3(478), HSPG2(3339), RYR1(6261), CD96(10225), PIK3CA(5290), HSPD1(3329), LMBRD1(55788), MPI(4351), SERPINC1(462), TRH(7200), PKD2(5311), MOCS2(4338), PKD1(5310), MOCS1(4337), PITX2(5308), ALG3(10195), MMAB(326625), DCLRE1C(64421), MLH1(4292), PHKA2(5256), PHKB(5257), HYLS1(219844), CSF3R(1441), SERPINA1(5265), ANTXR2(118429), HPS4(89781), TPM3(7170), RET(5979), ATRX(546), MMAA(166785), ATXN8(724066), DDC(1644), GLRB(2743), GLRA1(2741), AVPR2(554), SLC11A2(4891), TGFB1(7040), MCCC1(56922), DCR(1637), GLI3(2737), NPHS1(4868), REG1A(5967), THPO(7066), NPC1(4864), CRLF1(9244), RPGRIP1L(23322), GLB1(2720), COLQ(8292), GLA(2717), GPC3(2719), MRPS22(56945), GK(2710), ROR2(4920), RHAG(6005), GJB1(2705), TMPRSS6(164656), RFX5(5993), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), RFXAP(5994), DBT(1629), VANGL1(81839), ATP7B(540), GIF(2694), AXIN1(8312), ATP7A(538), SAR1B(51128), GP1BA(2811), MKKS(8195), KCNJ11(3767), GP9(2815), GP1BB(2812), RAPSN(5913), OCRL(4952), BCS1L(617), BDNF(627), AAAS(8086), ATXN10(25814), GNS(2799), CYP27B1(1594), SBDS(51119), RAG2(5897), TNFRSF1A(7132), RAG1(5896), KCNJ1(3758), CYP11B2(1585), DTNBP1(84062), ABHD5(51099), TRIP11(9321), BBS1(582), BBS2(583), BBS4(585), NDUFAF4(29078), CYBB(1536), NIPBL(25836), PABPN1(8106), BCKDHA(593), JAK2(3717), BBS10(79738), CCND1(595), BCKDHB(594), FAM123B(139285), DOK7(285489), IVD(3712), TPI1(7167), TP53(7157), MLYCD(23417), AMN(81693), BTD(686), DMPK(1760), TBXAS1(6916), OXCT1(5019), EFEMP2(30008), ARL6(84100), GATA1(2623), HNF1A(6927), TBX3(6926), BRAF(673), OTC(5009), ITGB3(3690), ITGB4(3691), ITGB2(3689), BUB1B(701), HNF1B(6928), GALT(2592), ALS2(57679), CUBN(8029), TREX1(11277), SLC46A1(113235), BTK(695), TCIRG1(10312), DNMT3B(1789), GALC(2581), TCN2(6948), GALE(2582), ITGA2B(3674), GALNS(2588), DKC1(1736), DLD(1738), PSAT1(29968), GALK1(2584), BPGM(669), MKS1(54903), IRF1(3659), RECQL4(9401), MRPS16(51021), ETHE1(23474), PDX1(3651), BMPR1A(657), HPS6(79803), ITGA6(3655), POMT2(29954), ZFYVE26(23503), INSR(3643), ACAD9(28976), FLCN(201163), TNFRSF13B(23495), PAX4(5078), PAX3(5077), INS(3630), GPHN(10243), RMRP(6023), DGUOK(1716), CA2(760), DHCR7(1717), DGCR(1714), EPM2A(7957), GDNF(2668), HGSNAT(138050), TEK(7010), ALG1(56052), GCK(2645), CLCF1(23529), TERC(7012), TERT(7015), PCK1(5105), PCK2(5106), TIMM8A(1678), TF(7018), TFAP2A(7020), EIF2AK3(9451), SERPING1(710), DES(1674), PCCB(5096), ATP6V0A2(23545), GBA(2629), IL12B(3593), GBE1(2632), PC(5091), GCDH(2639), PCCA(5095), C5(727), MYCN(4613), GUSB(2990), LYZ(4069), SH2D1A(4068), BBS5(129880), MYH3(4621), SETX(23064), SALL4(57167), EDNRA(1909), EDN3(1908), EDNRB(1910), FOXP3(50943), MANF(7873), IKBKAP(8518), CDKL5(6792), GUCY2D(3000), STK11(6794), MYH8(4626), MYH9(4627), AURKC(6795), SMAD4(4089), TYMP(1890), MYO5B(4645), MSH6(2956), SLC25A20(788), LRP2(4036), PTEN(5728), MCOLN1(57192), ABCC8(6833), CACNA1A(773), AP3B1(8546), RAB23(51715), NAGLU(4669), ICOS(29851), ADAMTS2(9509), PRSS1(5644), LMNB1(4001), HCCS(3052), LMNA(4000), KRIT1(889), ALG6(29929), NBN(4683), LOX(4015), HBB(3043), NHLRC1(378884), PSAP(5660), SLC26A2(1836), NCF2(4688), LPL(4023), PSEN1(5663), NDN(4692), SPINT2(10653), NDUFA1(4694), CBS(875), NEB(4703), TMPRSS15(5651), TBP(6908), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), SLC26A3(1811), NDUFS1(4719), LIFR(3977), DPYS(1807), NDUFV1(4723), LIPA(3988), NDUFS2(4720), HADHB(3032), HADH(3033), OFD1(8481), CLDN16(10686), BBS7(55212), NDUFS6(4726), HBA1(3039), NDUFS4(4724), ALMS1(7840), MOGS(7841), CASP10(843), CASP8(841), CASR(846), HADHA(3030), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), CD40LG(959), PEX2(5828), SLC19A2(10560), PEX5(5830), LCT(3938), SPG7(6687), PYGL(5836), NDUFAF2(91942), SOX10(6663), SOX2(6657), NPC2(10577), ENG(2022), UQCRQ(27089), ABCB11(8647), NEU1(4758), POMT1(10585), LAMB3(3914), SPTB(6710), SPTA1(6708), LAMB1(3912), GPI(2821), ELN(2006), LAMC2(3918), NDUFAF3(25915), VPS13A(23230), AKR1D1(6718), CD247(919), D2HGDH(728294), LAMA3(3909), PNPO(55163), LBR(3930), GFM1(85476), SPINK1(6690), TNFSF11(8600), DNAI1(27019), CDC73(79577), L1CAM(3897), FBLN5(10516), NME1(4830), GSN(2934), NPHP3(27031), FREM2(341640), CDH1(999), ADAMTSL2(9719), STAT1(6772), KRAS(3845), RFXANK(8625), NODAL(4838), SEMA3E(9723), MMACHC(25974), EFNB1(1947), AICDA(57379), SLC34A3(142680), PNP(4860), AGPAT2(10555), PNKD(25953)]
ABNORMALITY OF THE ABDOMINAL WALL(HP:0004298)	[FBN1(2200), PLOD1(5351), ARSB(411), GUSB(2990), ATRX(546), EFEMP2(30008), RPS6KA3(6197), MYH3(4621), CCBE1(147372), TBX3(6926), NSD1(64324), GLRB(2743), VDR(7421), STRA6(64220), GLRA1(2741), H19(283120), PLOD2(5352), FLNA(2316), GLI3(2737), IDS(3423), KCNQ1OT1(10984), GNE(10020), NEU1(4758), GNPTAB(79158), AMH(268), AMHR2(269), GLB1(2720), SALL1(6299), GPC3(2719), ELN(2006), AFP(174), LRP2(4036), TSHB(7252), GALNS(2588), SLC5A5(6528), B3GALTL(145173), ROR2(4920), LBR(3930), MKS1(54903), CHRNG(1146), MBTPS2(51360), COL1A2(1278), SLC6A5(9152), RAB23(51715), COL1A1(1277), MAN2B1(4125), ADAMTS2(9509), HSPG2(3339), CD96(10225), FGFR1(2260), LOX(4015), CDKN1C(1028), SLC26A2(1836), COL5A2(1290), MED12(9968), GPHN(10243), COL5A1(1289), DGCR(1714), FBLN5(10516), CYP27B1(1594), GPC6(10082), FGD1(2245), WNT3(7473), COL2A1(1280), CBS(875), COL3A1(1281), BSCL2(26580), UBA1(7317), TBX1(6899), PORCN(64840), HYLS1(219844), SEMA3E(9723), NIPBL(25836), EFNB1(1947), OFD1(8481), FAM123B(139285), ATP6V0A2(23545), AGPAT2(10555), AR(367), CHD7(55636), LEPRE1(64175), PAX8(7849)]
ABNORMALITY OF THE ACETABULUM(HP:0003170)	[FBN1(2200), SMARCAL1(50485), ARSB(411), GUSB(2990), CRTAP(10491), GATA1(2623), FLNB(2317), DCR(1637), TRPV4(59341), AP3B1(8546), MMP2(4313), HOXA11(3207), MATN3(4148), DYM(54808), SLC35D1(23169), COL2A1(1280), COL1A1(1277), GNPTAB(79158), GLB1(2720), CANT1(124583)]
ABNORMALITY OF THE ACHILLES TENDON(HP:0005109)	[HGD(3081), FKRP(79147), MYOT(9499), HRAS(3265), LMNA(4000), LARGE(9215), ALS2(57679), EMD(2010)]
ABNORMALITY OF THE ADRENAL GLANDS(HP:0000834)	[PEX19(5824), RET(5979), PEX5(5830), NSD1(64324), HSD17B4(3295), H19(283120), GLI3(2737), HSD11B2(3291), PROP1(5626), KCNQ1OT1(10984), PDE11A(50940), NSDHL(50814), BMP4(652), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), GK(2710), CRH(1392), MKS1(54903), PRKAR1A(5573), NR0B1(190), SLC12A1(6557), CYP11A1(1583), LHX4(89884), CDKN1C(1028), ZMPSTE24(10269), AIRE(326), AAAS(8086), BSND(7809), KCNJ1(3758), CYP21A2(1589), MEN1(4221), ABCD1(215), CYP17A1(1586), PEX26(55670), CYP11B2(1585), CYP11B1(1584), STAR(6770), GNAS(2778), CLCNKB(1188), HYLS1(219844), PCSK1(5122), PEX3(8504), SLC26A3(1811), WNK4(65266), WNK1(65125), SCNN1G(6340), TBX19(9095), SCNN1A(6337), SCNN1B(6338)]
ABNORMALITY OF THE AIRWAYS(HP:0002087)	[MYCN(4613), CHAT(1103), MYH3(4621), ANCR(282), NSD1(64324), MAPT(4137), DCTN1(1639), GLI3(2737), EDA(1896), CDKL5(6792), HRAS(3265), AURKC(6795), CRLF1(9244), MATR3(9782), ECM1(1893), GNPTAB(79158), CHRNA1(1134), COLQ(8292), SEPN1(57190), DDR2(4921), RAB3GAP2(25782), GJA1(2697), CHRNE(1145), CHRND(1144), POR(5447), ACTA1(58), RAI1(10743), CHRNB1(1140), PTH1R(5745), DBH(1621), ICOS(29851), GHR(2690), SNRPN(6638), UCHL1(7345), UPF3B(65109), SDHD(6392), RAPSN(5913), SDHC(6391), FGFR1(2260), FGFR3(2261), NBN(4683), MECP2(4204), FGFR2(2263), POLG(5428), SLC26A2(1836), COL4A6(1288), CUL4B(8450), NDN(4692), LEMD3(23592), COL2A1(1280), UBE3A(7337), VPS13B(157680), SMCR(6600), TBP(6908), TBX1(6899), PORCN(64840), NIPBL(25836), LIFR(3977), SDHAF2(54949), EBP(10682), TRPV4(59341), CFTR(1080), PANK2(80025), HOXD13(3239), FAM123B(139285), IGHMBP2(3508), AR(367), SMS(6611), SCNN1B(6338), PAX8(7849), SLC19A2(10560), ERCC4(2072), TBX3(6926), MGP(4256), PLP1(5354), FLNA(2316), FLNB(2317), CTNS(1497), IDS(3423), SOX9(6662), DNMT3B(1789), CD8A(925), AGA(175), TSPYL1(7259), TSHB(7252), SRD5A2(6716), BLM(641), LAMA3(3909), MKS1(54903), LBR(3930), ASAH1(427), PLG(5340), HSPG2(3339), TRPS1(7227), DNAI1(27019), ATM(472), TNFRSF13B(23495), KRT17(3872), MUSK(4593), MED12(9968), TRIM37(4591), DGCR(1714), GDAP1(54332), FREM2(341640), TRH(7200), SMARCAL1(50485), KRT6B(3854), FRAS1(80144), ADAMTSL2(9719), MFN2(9927), PCNT(5116), HYLS1(219844), TFAP2A(7020), SERPING1(710), GBA(2629), ALPL(249)]
ABNORMALITY OF THE ALTERNATE COMPLEMENT PATHWAY(HP:0005482)	[CFP(5199), CFH(3075)]
ABNORMALITY OF THE ALVEOLAR RIDGES(HP:0006477)	[DHCR24(1718), CD96(10225), DHCR7(1717), GPC3(2719), ARX(170302), GJA1(2697), TBX15(6913), CTSC(1075), EVC2(132884), EVC(2121), GNPTAB(79158)]
ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560)	[ERBB3(2065), MYCN(4613), RET(5979), FOXE1(2304), DMPK(1760), EFEMP2(30008), SETX(23064), HSD17B4(3295), BRAF(673), ACE(1636), REN(5972), MTM1(4534), FLNB(2317), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), ESCO2(157570), FAH(2184), GLE1(2733), SOX9(6662), BUB1B(701), HRAS(3265), FLT4(2324), SLC35D1(23169), PMM2(5373), CHRNA1(1134), UPK3A(7380), PKLR(5313), PKHD1(5314), MRPS22(56945), B3GALTL(145173), INVS(27130), LBR(3930), MKS1(54903), AGTR1(185), CHRNG(1146), SLC12A1(6557), CHRND(1144), POR(5447), PTH1R(5745), CPT2(1376), AGT(183), ITGA6(3655), RYR1(6261), CD96(10225), ATM(472), RAPSN(5913), FGFR3(2261), LOX(4015), OCRL(4952), ZMPSTE24(10269), SLC26A2(1836), SPINT2(10653), FBLN5(10516), BSND(7809), KCNJ1(3758), COL2A1(1280), NPHP3(27031), NEB(4703), ALG1(56052), TRIP11(9321), CLCNKB(1188), KRAS(3845), HYLS1(219844), EBP(10682), HADHB(3032), FAM123B(139285), DOK7(285489), GBA(2629), ALPL(249), GBE1(2632), HADHA(3030)]
ABNORMALITY OF THE ANKLES(HP:0003028)	[CLCN5(1184), SPG11(80208), KIF5A(3798), VDR(7421), DPM1(8813), CYP2R1(120227), FLNA(2316), COL6A1(1291), ESCO2(157570), SPG20(23111), MMP2(4313), CYP27B1(1594), COL6A2(1292), COL6A3(1293), SLC34A3(142680)]
ABNORMALITY OF THE ANTERIOR CHAMBER(HP:0000593)	[FBN1(2200), FKRP(79147), FKTN(2218), NDP(4693), LARGE(9215), ADAMTS10(81794), CHST14(113189), LRP5(4041), B3GALTL(145173), JAG1(182), POMT1(10585), POMT2(29954)]
ABNORMALITY OF THE ANTERIOR FONTANELLE(HP:0000236)	[MYCN(4613), FBN1(2200), EP300(2033), ATR(545), RPS6KA3(6197), FGFR1(2260), FGFR2(2263), FLNA(2316), GLI3(2737), MED12(9968), SOX9(6662), UBR1(197131), TBCE(6905), ASPA(443), LRP2(4036), CRTAP(10491), TSHB(7252), SEC23A(10484), B3GALTL(145173), ROR2(4920), ETFDH(2110), ETFB(2109), ETFA(2108), RUNX2(860), MMP2(4313), FAM123B(139285), CREBBP(1387), COL1A1(1277), CTSK(1513), LEPRE1(64175), ATP7A(538), ADAMTS2(9509)]
ABNORMALITY OF THE ANTERIOR SEGMENT OF THE EYE(HP:0004328)	[FBN1(2200), ADAMTSL4(54507), FBN2(2201), FKRP(79147), DDB2(1643), RET(5979), TINF2(26277), TGFBI(7045), DCR(1637), GCM2(9247), SNAI2(6591), ADAMTS10(81794), CTSA(5476), BBS9(27241), GNPTAB(79158), GLB1(2720), RHO(6010), LYST(1130), NTRK1(4914), SEC23A(10484), B3GALTL(145173), GJB2(2706), FKTN(2218), GTF2H5(404672), GJA8(2703), RAB3GAP2(25782), HSF4(3299), GJA1(2697), ACTB(60), MKKS(8195), ZEB2(9839), CYP4V2(285440), FGFR3(2261), OCRL(4952), BCS1L(617), BBS12(166379), POLG(5428), POLH(5429), KCNJ13(3769), COL18A1(80781), FGF10(2255), CECR(1055), RAG2(5897), CYP27A1(1593), UROC1(131669), RAG1(5896), OAT(4942), DTNBP1(84062), ABHD5(51099), FOXC2(2303), CNBP(7555), RBP4(5950), GNAS(2778), FOXE3(2301), CYP1B1(1545), BBS1(582), FOXC1(2296), BBS2(583), BBS4(585), HPS1(3257), NIPBL(25836), SIX6(4990), BBS10(79738), DMPK(1760), RP2(6102), ERCC2(2068), TRIM32(22954), TBX15(6913), ERCC3(2071), ARL6(84100), GATA1(2623), ERCC6(2074), BUB1B(701), BLOC1S3(388552), GALT(2592), FAM126A(84668), PAH(5053), BCOR(54880), GALNS(2588), DKC1(1736), GALK1(2584), ETFDH(2110), ETFB(2109), BFSP2(8419), ETFA(2108), FOXL2(668), MKS1(54903), GNPAT(8443), RPE65(6121), RECQL4(9401), XPC(7508), ZNF469(84627), OPA3(80207), COL1A1(1277), KIAA1279(26128), JAG1(182), RAB3GAP1(22930), XPA(7507), HPS6(79803), POMT2(29954), GJB6(10804), WHCR(7467), PAX6(5080), WHSC1(7468), ERCC8(1161), FZD4(8322), CEP290(80184), PAX3(5077), GPHN(10243), TRIM37(4591), DHCR7(1717), DGCR(1714), RAX(30062), WRN(7486), WNT3(7473), PHGDH(26227), SMARCAL1(50485), ITM2B(9445), FRAS1(80144), SHH(6469), BEST1(7439), CHST14(113189), TFAP2A(7020), ALDH3A2(224), VHL(7428), GBA(2629), GUSB(2990), BBS5(129880), TACSTD2(4070), SALL4(57167), ANCR(282), HPS5(11234), EDNRB(1910), IKBKG(8517), ESCO2(157570), IKBKAP(8518), SLC4A11(83959), ALX3(257), CDKL5(6792), GUCY2D(3000), MYH9(4627), PTCH1(5727), SC5DL(6309), UQCRB(7381), MYO7A(4647), PEX10(5192), KIF1B(23095), PTH(5741), PEX14(5195), SAT1(6303), PEX13(5194), LRP2(4036), PEX1(5189), MYOC(4653), PEX7(5191), LRP5(4041), PTEN(5728), UROS(7390), MCOLN1(57192), C10orf2(56652), VSX1(30813), NR2E3(10002), AP3B1(8546), CREBBP(1387), SIL1(64374), RAB23(51715), SUOX(6821), CACNA1F(778), TRAPPC2(6399), HCCS(3052), APOB(338), CNGB3(54714), SDHD(6392), APOA2(336), SDHB(6390), INPP5E(56623), MECP2(4204), COL8A2(1296), COL11A1(1301), APOC2(344), LMX1B(4010), AIRE(326), COL5A2(1290), COL4A6(1288), LPL(4023), COL5A1(1289), PIKFYVE(200576), COL7A1(1294), NDP(4693), IGBP1(3476), COL4A1(1282), APOA1(335), COL2A1(1280), UBE3A(7337), COL3A1(1281), CBS(875), COL4A5(1287), PQBP1(10084), TTC8(123016), PEX26(55670), FTL(2512), POMGNT1(55624), CHST6(4166), SLC37A4(2542), HPS3(84343), G6PC(2538), TBX1(6899), PORCN(64840), PEX3(8504), LIFR(3977), EBP(10682), TAP1(6890), TAP2(6891), TYR(7299), BBS7(55212), CLDN16(10686), TAPBP(6892), ALMS1(7840), UBIAD1(29914), CASR(846), CHD7(55636), PEX19(5824), ABCD3(5825), ARSB(411), PLOD1(5351), EP300(2033), SLC4A4(8671), PEX2(5828), ARSE(415), LARGE(9215), LDLR(3949), PEX5(5830), STS(412), FLNB(2317), CTNS(1497), SOX10(6663), MITF(4286), NF1(4763), UQCRQ(27089), AASS(10157), POMT1(10585), LAMB2(3913), OSMR(9180), KERA(11081), NF2(4771), LCAT(3931), CTDP1(9150), HSPG2(3339), NHS(4810), DNAI1(27019), CRYBA1(1411), CRYAB(1410), GSN(2934), FREM2(341640), MOCS2(4338), PITX3(5309), MOCS1(4337), CRYGD(1421), PITX2(5308), ST14(6768), ALG3(10195), KRT3(3850), VCAN(1462), TP63(8626), SEMA3E(9723), MMP2(4313), HPS4(89781), KRT12(3859)]
ABNORMALITY OF THE ANTITRAGUS(HP:0009896)	[RAB3GAP2(25782)]
ABNORMALITY OF THE ANUS(HP:0004378)	[PRSS1(5644), FKRP(79147), MKKS(8195), HCCS(3052), LARGE(9215), GATA1(2623), SALL4(57167), TBX3(6926), NBN(4683), FGFR2(2263), GLI3(2737), DCR(1637), MED12(9968), MID1(4281), WNT3(7473), FREM2(341640), UBR1(197131), POMT1(10585), PQBP1(10084), PITX2(5308), FRAS1(80144), SALL1(6299), PORCN(64840), PTEN(5728), SEMA3E(9723), MKS1(54903), FKTN(2218), HOXD13(3239), RECQL4(9401), MNX1(3110), CHD7(55636), POMT2(29954)]
ABNORMALITY OF THE AORTIC VALVE(HP:0001646)	[FBN1(2200), ADAMTSL2(9719), FBN2(2201), ELN(2006), SLC2A10(81031), EFEMP2(30008), CAV3(859), TGFBR1(7046), LOX(4015), D2HGDH(728294), MYLK2(85366), PTPN11(5781), HGD(3081), ESCO2(157570), SLC25A4(291), MYH7(4625), GBA(2629), FBLN5(10516), NOTCH1(4851), GNPTG(84572), COL1A2(1278), NPHP3(27031), GNPTAB(79158)]
ABNORMALITY OF THE ATRIAL SEPTUM(HP:0001630)	[FBN2(2201), EP300(2033), WHCR(7467), CD96(10225), WHSC1(7468), HCCS(3052), ZEB2(9839), FGFR1(2260), CCBE1(147372), SALL4(57167), TGFBR1(7046), NSD1(64324), EVC2(132884), ATIC(471), FGFR2(2263), STRA6(64220), TSFM(10102), BRAF(673), ZMPSTE24(10269), FLNB(2317), MAP2K1(5604), MED12(9968), PTPN11(5781), MAP2K2(5605), ESCO2(157570), DHCR7(1717), SOS1(6654), HRAS(3265), NF1(4763), GPC6(10082), NPHP3(27031), UBR1(197131), EVC(2121), NKX2-5(1482), PQBP1(10084), TBX5(6910), BCOR(54880), KRAS(3845), B3GALTL(145173), NODAL(4838), SEMA3E(9723), FAM123B(139285), CREBBP(1387), CRELD1(78987), RAB23(51715), JAG1(182), CHD7(55636)]
ABNORMALITY OF THE ATRIOVENTRICULAR VALVES(HP:0006705)	[FBN1(2200), FBN2(2201), RPS6KA3(6197), TGFBR1(7046), POLG(5428), FLNA(2316), COL5A2(1290), PTPN11(5781), HGD(3081), COL5A1(1289), SOS1(6654), HRAS(3265), FBLN5(10516), COL2A1(1280), CBS(875), COL3A1(1281), FMR1(2332), ADAMTSL2(9719), VPS13B(157680), ELN(2006), AGA(175), TNXB(7148), ABCC6(368), BCOR(54880), VWF(7450), GJA1(2697), GBA(2629), COL1A2(1278), ZNF469(84627), COL1A1(1277)]
ABNORMALITY OF THE AUTONOMIC NERVOUS SYSTEM(HP:0002270)	[PRNP(5621), SNCA(6622), GLA(2717), AAAS(8086), SOX10(6663), TTR(7276), LMNB1(4001), ATXN3(4287), NTRK1(4914), LIFR(3977), EDNRB(1910)]
ABNORMALITY OF THE AXIAL SKELETON(HP:0009121)	[FBN1(2200), FBN2(2201), FKRP(79147), CCBE1(147372), HSD17B4(3295), H19(283120), DPM1(8813), EDARADD(128178), SLC16A2(6567), SLC35C1(55343), KCNQ1OT1(10984), HRAS(3265), FANCD2(2177), DOLK(22845), FANCC(2176), PPIB(5479), MATR3(9782), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), ACADS(35), ACADSB(36), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), C20orf7(79133), MPZ(4359), CHRNG(1146), MPV17(4358), CHRNE(1145), CHRND(1144), POR(5447), ACTA1(58), PUS1(80324), TNFRSF11A(8792), ACTB(60), SNRPN(6638), UPF3B(65109), FH(2271), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CDKN1C(1028), FGF10(2255), SOS1(6654), FGF3(2248), HSPB8(26353), CECR(1055), FGD1(2245), ASPM(259266), EDAR(10913), GDF6(392255), ACVR1(90), FOXC2(2303), ADA(100), HPGD(3248), SMCR(6600), NDUFA11(126328), TRPV4(59341), HOXD13(3239), CUL7(9820), GNPTG(84572), PMP22(5376), SMS(6611), ERBB3(2065), ERCC2(2068), TRIM32(22954), ERCC3(2071), ERCC4(2072), SGCB(6443), PRPS1(5631), ROBO3(64221), SGCA(6442), STRA6(64220), ERCC6(2074), SGCG(6445), MTM1(4534), MAP2K1(5604), SGSH(6448), MAP2K2(5605), MTHFR(4524), ZIC1(7545), MAPK10(5602), FAM126A(84668), PRKCSH(5589), AGA(175), AFP(174), MTMR2(8898), FGD4(121512), WT1(7490), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), AGTR1(185), PRKAR1A(5573), COL1A2(1278), ZNF469(84627), ACAN(176), COL1A1(1277), KIAA1279(26128), JAG1(182), AGT(183), RAB3GAP1(22930), XPA(7507), EXT2(2132), WHCR(7467), SQSTM1(8878), WHSC1(7468), SIX3(6496), EXT1(2131), ERCC8(1161), MVK(4598), CEP290(80184), EYA1(2138), EIF2B2(8892), MED12(9968), EIF2B5(8893), HGD(3081), PPT1(5538), TRIM37(4591), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), WNT3(7473), GDAP1(54332), HEXB(3074), WNT7A(7476), EVC(2121), PHGDH(26227), NOP10(55505), SMARCAL1(50485), CLCN7(1186), FRAS1(80144), SHH(6469), MFN2(9927), FANCA(2175), WISP3(8838), TSEN54(283989), ALDOA(226), SHOX(6473), ALDH3A2(224), WAS(7454), GORAB(92344), ALPL(249), MNX1(3110), LEPRE1(64175), VCP(7415), BIN1(274), ANCR(282), NSD1(64324), MAPT(4137), VDR(7421), ESCO2(157570), ALX3(257), MATN3(4148), PAPSS2(9060), GNE(10020), IHH(3549), SC5DL(6309), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), RAB39B(116442), AIP(9049), PEX1(5189), PEX7(5191), UROS(7390), IL2RG(3561), C10orf2(56652), SLC17A5(26503), SEC63(11231), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), MAN2B1(4125), TRAPPC2(6399), PDHA1(5160), COMP(1311), ENPP1(5167), NHP2(55651), COL9A1(1297), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), COL6A1(1291), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), COL2A1(1280), IGF1R(3480), FUCA1(2517), UBE3A(7337), PQBP1(10084), TTC8(123016), PEX26(55670), POMGNT1(55624), VPS13B(157680), UBA1(7317), ABCC6(368), IGHMBP2(3508), GAA(2548), AR(367), CHD7(55636), ARSB(411), PLOD1(5351), ARSE(415), TWIST1(7291), LARGE(9215), RPS6KA3(6197), SERPINF2(5345), MGP(4256), PLP1(5354), FLNA(2316), PLOD2(5352), FLNB(2317), CTNS(1497), IDS(3423), MID1(4281), PMM2(5373), NKX2-5(1482), FMR1(2332), ASPA(443), LRPPRC(10128), TSHB(7252), SP110(3431), CTSD(1509), ARX(170302), MBTPS2(51360), PLG(5340), CTSK(1513), MGAT2(4247), CTDP1(9150), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), ATM(472), ATIC(471), HSPD1(3329), MMP13(4322), FXN(2395), PITX2(5308), ALG3(10195), PHEX(5251), CDK5RAP2(55755), HYLS1(219844), CSF3R(1441), MMP2(4313), TPM2(7169), SH3TC2(79628), RET(5979), CENPJ(55835), ATRX(546), NPR2(4882), ATR(545), TGFBR1(7046), ACE(1636), REN(5972), TGFB1(7040), DCR(1637), GLI3(2737), GLE1(2733), NOG(9241), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), EMG1(10436), GLB1(2720), SBF2(81846), COLQ(8292), GPC3(2719), DYNC2H1(79659), KIF5A(3798), CRTAP(10491), SEC23A(10484), ROR2(4920), DDR2(4921), MCPH1(79648), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), VANGL1(81839), ATP7A(538), KCNJ11(3767), MKKS(8195), RAPSN(5913), OCRL(4952), COL18A1(80781), AAAS(8086), GNS(2799), CYP27B1(1594), SBDS(51119), RAG2(5897), TNFRSF1A(7132), RAG1(5896), KCNJ2(3759), KCNJ1(3758), CYP21A2(1589), GNAS(2778), TRIP11(9321), TNFRSF11B(4982), BBS1(582), OPHN1(4983), BBS2(583), TNNI2(7136), BBS4(585), TNNT1(7138), NDUFAF4(29078), TNNT3(7140), NIPBL(25836), BBS10(79738), ZFPM2(23414), KDM5C(8242), SNAP29(9342), FAM123B(139285), DOK7(285489), PLA2G6(8398), SLC25A22(79751), ATL1(51062), EFEMP2(30008), TBX15(6913), ZIC4(84107), ARL6(84100), GATA1(2623), TBX3(6926), BRAF(673), B4GALT7(11285), GARS(2617), BUB1B(701), ALS2(57679), TREX1(11277), BTK(695), TCIRG1(10312), DNMT3B(1789), TCOF1(6949), PAH(5053), BMP4(652), DLAT(1737), GALNS(2588), DKC1(1736), PSAT1(29968), BLM(641), PRX(57716), MKS1(54903), DLX3(1747), GNPAT(8443), RECQL4(9401), PDHX(8050), DMD(1756), DMP1(1758), POMT2(29954), GAD1(2571), EHMT1(79813), B4GALT1(2683), TNFRSF13B(23495), PAX3(5077), ZMPSTE24(10269), INS(3630), DHCR24(1718), RMRP(6023), DGUOK(1716), CA2(760), DHCR7(1717), GDF1(2657), DGCR(1714), FAM20C(56975), DYM(54808), CYB5R3(1727), SH3PXD2B(285590), GFAP(2670), PAK3(5063), HGSNAT(138050), ALG1(56052), GCK(2645), CLCF1(23529), PCNT(5116), SOST(50964), CHST14(113189), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), CHST3(9469), APTX(54840), GCDH(2639), MYCN(4613), TBX4(9496), MYOT(9499), GUSB(2990), BBS5(129880), SETX(23064), SALL4(57167), MYH3(4621), CAPN3(825), EDA(1896), IKBKG(8517), IKBKAP(8518), PDE11A(50940), CDKL5(6792), MYH7(4625), MYH8(4626), AURKC(6795), PTCH1(5727), CANT1(124583), SEPN1(57190), LRP2(4036), LRP5(4041), PTEN(5728), UPB1(51733), MCOLN1(57192), ABCC8(6833), AP3B1(8546), RAI1(10743), RAB23(51715), NAGLU(4669), PTH1R(5745), ICOS(29851), ADAMTS2(9509), TOR1A(1861), HCCS(3052), LMNA(4000), EVC2(132884), LOX(4015), NBN(4683), CYP2R1(120227), LMX1B(4010), PRPS2(5634), SLC26A2(1836), CUL4B(8450), NDN(4692), PHF6(84295), NDUFA1(4694), CBS(875), SYN1(6853), RELN(5649), NEB(4703), ALX4(60529), ANKH(56172), TBCE(6905), TBX5(6910), TBX1(6899), PORCN(64840), PEX3(8504), NDUFS1(4719), LIFR(3977), RUNX2(860), EBP(10682), TUBA1A(7846), NDUFV1(4723), DLL3(10683), NDUFS2(4720), OFD1(8481), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), MOGS(7841), DPAGT1(1798), CASR(846), HSD17B10(3028), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), PEX5(5830), SPG7(6687), NDUFAF2(91942), SPAST(6683), SOX9(6662), SOX2(6657), NF1(4763), NSDHL(50814), SLC35D1(23169), POMT1(10585), ANO5(203859), PLEKHG5(57449), LAMB1(3912), NDUFAF3(25915), EMD(2010), D2HGDH(728294), NF2(4771), LAMA2(3908), PNPO(55163), LBR(3930), MLC1(23209), GFM1(85476), SPR(6697), TNFSF11(8600), DNAI1(27019), PTPN11(5781), EGR2(1959), L1CAM(3897), FBLN5(10516), NME1(4830), EIF2B1(1967), FREM2(341640), ADAMTSL2(9719), STAT3(6774), TP63(8626), KRAS(3845), SEMA3E(9723), EFNB1(1947), MMACHC(25974), PNP(4860), SLC34A3(142680)]
ABNORMALITY OF THE BASAL GANGLIA(HP:0002134)	[PRNP(5621), TK2(7084), GNAS(2778), PDHA1(5160), ERCC3(2071), ATR(545), ERCC8(1161), ERCC6(2074), MUT(4594), CA2(760), PANK2(80025), GJA1(2697), GFM1(85476), PDE8B(8622), TREM2(54209), TREX1(11277), SLC46A1(113235), TYROBP(7305), FOXP2(93986), ETHE1(23474), CPT2(1376), FTL(2512)]
ABNORMALITY OF THE BILIARY SYSTEM(HP:0004297)	[CPOX(1371), LYZ(4069), BBS5(129880), VPS33B(26276), CLDN1(9076), HSD17B4(3295), ANK1(286), ESCO2(157570), ABCB4(5244), STK11(6794), AURKC(6795), NPC1(4864), RPGRIP1L(23322), BBS9(27241), SC5DL(6309), UQCRB(7381), FECH(2235), LYST(1130), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), B3GALTL(145173), UROS(7390), RHAG(6005), C10orf2(56652), RFX5(5993), PFKM(5213), RFXAP(5994), MPV17(4358), ATP8B1(5205), MKKS(8195), HBB(3043), BCS1L(617), POLG(5428), BBS12(166379), AMACR(23600), AIRE(326), LPL(4023), CECR(1055), APOA1(335), TTC8(123016), FGA(2243), PEX26(55670), G6PD(2539), BBS1(582), BBS2(583), TBX1(6899), BBS4(585), PEX3(8504), BBS10(79738), CFTR(1080), BBS7(55212), HBA1(3039), TPI1(7167), CDAN1(146059), UGT1A1(54658), SMPD1(6609), ARSA(410), PEX19(5824), ABCD3(5825), SLC25A13(10165), DMPK(1760), PEX2(5828), TRIM32(22954), PEX5(5830), ARL6(84100), ERCC4(2072), CIITA(4261), NPC2(10577), TMEM67(91147), TREX1(11277), ABCC2(1244), UQCRQ(27089), ABCB11(8647), SPTB(6710), SPTA1(6708), GALE(2582), GPI(2821), PKLR(5313), PKHD1(5314), AKR1D1(6718), GALK1(2584), ETFDH(2110), ETFB(2109), ETFA(2108), MKS1(54903), BPGM(669), LBR(3930), GFM1(85476), JAG1(182), WHCR(7467), HK1(3098), INSR(3643), WHSC1(7468), CEP290(80184), DGUOK(1716), DHCR7(1717), DGCR(1714), NPHP3(27031), SLC4A1(6521), ALDOB(229), RFXANK(8625), ALDOA(226), GBE1(2632)]
ABNORMALITY OF THE BLADDER(HP:0000014)	[PRNP(5621), ARSA(410), PLOD1(5351), CLDN19(149461), ATL1(51062), AUH(549), ATRX(546), EFEMP2(30008), SACS(26278), SALL4(57167), CCBE1(147372), SPG7(6687), AVPR2(554), KIAA0196(9897), SPAST(6683), CIITA(4261), ATXN3(4287), HMBS(3145), ATXN1(6310), ATXN2(6311), NIPA1(123606), SALL1(6299), SPG11(80208), KIF5A(3798), CFI(3426), RFX5(5993), MKS1(54903), SLC9A6(10479), RFXAP(5994), VANGL1(81839), POR(5447), DBH(1621), ATP7A(538), MKKS(8195), ZFYVE26(23503), CD96(10225), WFS1(7466), LOX(4015), NBN(4683), HSPD1(3329), CYP7B1(9420), EYA1(2138), PAX2(5076), PSAP(5660), PINK1(65018), ATXN10(25814), FBLN5(10516), TREM2(54209), HOXA13(3209), SLC5A2(6524), HEXB(3074), ABCD1(215), CHMP2B(25978), TBP(6908), TP63(8626), RFXANK(8625), NIPBL(25836), AQP2(359), PANK2(80025), IGHMBP2(3508), HOXD13(3239), CLDN16(10686), TYROBP(7305), MNX1(3110), NOTCH3(4854)]
ABNORMALITY OF THE BRAINSTEM(HP:0002363)	[ARSA(410), SQSTM1(8878), CHAT(1103), LARGE(9215), GPR56(9289), RAPSN(5913), MYH3(4621), FGFR3(2261), INPP5E(56623), GSN(2934), GFAP(2670), ATXN1(6310), NEB(4703), CHRNA1(1134), TMEM216(51259), DES(1674), TUBA1A(7846), NDUFV1(4723), PANK2(80025), GBA(2629), CHRNE(1145), CHRND(1144), C20orf54(113278), ACTA1(58), VRK1(7443), AR(367), TNFRSF11A(8792)]
ABNORMALITY OF THE BREASTS(HP:0000769)	[TWIST1(7291), NSD1(64324), HSD17B3(3293), ERCC4(2072), TBX3(6926), ERCC6(2074), CTNNB1(1499), EDA(1896), IKBKG(8517), BRIP1(83990), SLC22A18(5002), STK11(6794), AURKC(6795), GNE(10020), PMM2(5373), UBR1(197131), GNPTAB(79158), GPC3(2719), AIP(9049), TIMP2(7077), B3GALTL(145173), PTEN(5728), FOXL2(668), ACOX1(51), RAB3GAP2(25782), CHRNG(1146), RAD54L(8438), KIAA1279(26128), CPT2(1376), SRY(6736), AKT1(207), CD96(10225), INSR(3643), ZEB2(9839), PIK3CA(5290), FGFR2(2263), CDKN2A(1029), PTPN11(5781), CUL4B(8450), APC(324), SOS1(6654), PHF6(84295), CYP21A2(1589), CYP19A1(1588), FREM2(341640), CYP17A1(1586), FRAS1(80144), MSH2(4436), KAL1(3730), TP63(8626), MLH1(4292), PORCN(64840), KRAS(3845), SEMA3E(9723), NIPBL(25836), EFNB1(1947), TFAP2A(7020), SSTR5(6755), OFD1(8481), FAM123B(139285), RB1CC1(9821), ALMS1(7840), CHST3(9469), AR(367), TP53(7157), CHD7(55636), PPM1D(8493)]
ABNORMALITY OF THE BRONCHI(HP:0002109)	[CD8A(925), ATM(472), DNAI1(27019), TNFRSF13B(23495), NBN(4683), BLM(641), FLNB(2317), IDS(3423), SOX9(6662), CFTR(1080), POR(5447), ICOS(29851), SCNN1B(6338), DNMT3B(1789)]
ABNORMALITY OF THE CALCANEUS(HP:0008364)	[LBR(3930), HOXD10(3236), TNNI2(7136), MYH3(4621), TPM2(7169), COL1A2(1278), NSD1(64324), TNNT3(7140), FLNA(2316), FLNB(2317)]
ABNORMALITY OF THE CALF MUSCULATURE(HP:0001430)	[FKRP(79147), FBN2(2201), TRIM32(22954), CAV3(859), SGCA(6442), SGCG(6445), DES(1674), MYH7(4625), TTN(7273), AR(367), TCAP(8557), ANO5(203859), DMD(1756)]
ABNORMALITY OF THE CALVARIUM(HP:0002683)	[MYCN(4613), FBN1(2200), ATR(545), CCBE1(147372), TGFBR1(7046), NSD1(64324), VDR(7421), HSD17B4(3295), H19(283120), ACE(1636), REN(5972), GLI3(2737), KCNQ1OT1(10984), ESCO2(157570), PPIB(5479), UBR1(197131), GNPTAB(79158), PEX10(5192), PEX14(5195), LRP2(4036), CRTAP(10491), PEX13(5194), SEC23A(10484), PEX1(5189), LRP5(4041), PTEN(5728), B3GALTL(145173), ROR2(4920), ABCC8(6833), MCPH1(79648), GJA1(2697), SLC17A5(26503), CREBBP(1387), POR(5447), RAB23(51715), NAGLU(4669), MAN2B1(4125), ATP7A(538), ADAMTS2(9509), KCNJ11(3767), LMNA(4000), FGFR1(2260), FGFR3(2261), FGFR2(2263), CDKN1C(1028), COL11A1(1301), CYP2R1(120227), PHF6(84295), CYP27B1(1594), PEX26(55670), ALX4(60529), HPGD(3248), TBCE(6905), GNAS(2778), TNFRSF11B(4982), PEX3(8504), RUNX2(860), HOXD13(3239), FAM123B(139285), ALMS1(7840), PAX8(7849), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), TWIST1(7291), PEX5(5830), RPS6KA3(6197), ERCC6(2074), FLNA(2316), PLOD2(5352), SGSH(6448), SOX9(6662), BMP4(652), ASPA(443), AGA(175), TSHB(7252), ETFDH(2110), ETFB(2109), ETFA(2108), CTSD(1509), MSX2(4488), AGTR1(185), GNPAT(8443), COL1A2(1278), RECQL4(9401), COL1A1(1277), CTSK(1513), AGT(183), DMP1(1758), TNFSF11(8600), ERCC8(1161), MVK(4598), ZMPSTE24(10269), INS(3630), MED12(9968), PTPN11(5781), CA2(760), DYM(54808), SH3PXD2B(285590), HGSNAT(138050), ALG1(56052), GCK(2645), STAT3(6774), SOST(50964), CHST14(113189), EFNB1(1947), CSF3R(1441), MMP2(4313), GORAB(92344), ALPL(249), SLC34A3(142680), LEPRE1(64175)]
ABNORMALITY OF THE CALVES(HP:0002981)	[FKRP(79147), FBN2(2201), TRIM32(22954), TBX15(6913), ATR(545), LMBR1(64327), VDR(7421), GDF5(8200), SGCA(6442), MMP13(4322), SGCG(6445), COL11A1(1301), FLNA(2316), CYP2R1(120227), FLNB(2317), SOX9(6662), CYP27B1(1594), MYH7(4625), NF1(4763), PAPSS2(9060), TTN(7273), GPC6(10082), IHH(3549), ANO5(203859), WNT7A(7476), CANT1(124583), CLCN5(1184), PHEX(5251), CAV3(859), HYLS1(219844), DDR2(4921), SHOX(6473), DES(1674), FAM123B(139285), SLC34A3(142680), COL1A1(1277), AR(367), TCAP(8557), DMD(1756), BMPR1B(658), LEPRE1(64175)]
ABNORMALITY OF THE CAPITATE BONE(HP:0004262)	[FGFR3(2261), EVC2(132884), EVC(2121), ATP7A(538)]
ABNORMALITY OF THE CARDIAC ATRIA(HP:0005120)	[EP300(2033), FBN2(2201), TGFBR1(7046), SALL4(57167), CCBE1(147372), NSD1(64324), STRA6(64220), BRAF(673), FLNB(2317), MAP2K1(5604), ESCO2(157570), MAP2K2(5605), HRAS(3265), NF1(4763), UBR1(197131), NKX2-5(1482), SMAD9(4093), BCOR(54880), EMD(2010), B3GALTL(145173), CREBBP(1387), CRELD1(78987), RAB23(51715), JAG1(182), BMPR2(659), WHCR(7467), CD96(10225), HCCS(3052), WHSC1(7468), ZEB2(9839), FGFR1(2260), ATIC(471), EVC2(132884), FGFR2(2263), TSFM(10102), ZMPSTE24(10269), PTPN11(5781), MED12(9968), SOS1(6654), DHCR7(1717), GPC6(10082), NPHP3(27031), EVC(2121), PQBP1(10084), TBX5(6910), KRAS(3845), NODAL(4838), SEMA3E(9723), FAM123B(139285), CHD7(55636)]
ABNORMALITY OF THE CARDIAC SEPTA(HP:0001671)	[PEX19(5824), ERBB3(2065), FBN1(2200), FBN2(2201), EP300(2033), SLC19A2(10560), PEX5(5830), SALL4(57167), GATA1(2623), CCBE1(147372), TGFBR1(7046), NSD1(64324), MGP(4256), STRA6(64220), BRAF(673), GLI3(2737), DCR(1637), FLNB(2317), MAP2K1(5604), SGSH(6448), MAP2K2(5605), ESCO2(157570), SLC22A5(6584), SOX2(6657), HRAS(3265), MYH7(4625), NF1(4763), ZIC3(7547), UBR1(197131), NKX2-5(1482), GLA(2717), SALL1(6299), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), BCOR(54880), LRP2(4036), PEX1(5189), LRP5(4041), B3GALTL(145173), ROR2(4920), MYLK2(85366), LBR(3930), MKS1(54903), SLC25A4(291), GJA1(2697), CREBBP(1387), CRELD1(78987), RAB23(51715), NAGLU(4669), JAG1(182), MGAT2(4247), WHCR(7467), CD96(10225), WHSC1(7468), HCCS(3052), ZEB2(9839), FGFR1(2260), EVC2(132884), ATIC(471), FGFR2(2263), TSFM(10102), ZMPSTE24(10269), PRKAG2(51422), MED12(9968), PTPN11(5781), DHCR7(1717), SOS1(6654), DGCR(1714), GNS(2799), GPC6(10082), NPHP3(27031), EVC(2121), PQBP1(10084), PEX26(55670), FOXC2(2303), HGSNAT(138050), TBX5(6910), CAV3(859), TP63(8626), TBX1(6899), KRAS(3845), PEX3(8504), HYLS1(219844), NODAL(4838), SEMA3E(9723), NIPBL(25836), FAM123B(139285), HOXD13(3239), CHD7(55636)]
ABNORMALITY OF THE CARDIAC VENTRICLE(HP:0001713)	[PEX19(5824), FBN1(2200), ERBB3(2065), FKRP(79147), FBN2(2201), EP300(2033), BBS5(129880), PEX5(5830), TRIM32(22954), ARL6(84100), SALL4(57167), CCBE1(147372), NSD1(64324), MGP(4256), STRA6(64220), SGCG(6445), FLNA(2316), GLI3(2737), FLNB(2317), ESCO2(157570), TTR(7276), SOX2(6657), HRAS(3265), ZIC3(7547), UBR1(197131), SMAD9(4093), BBS9(27241), GLA(2717), SALL1(6299), PKP2(5318), GPC3(2719), SLC25A20(788), PEX10(5192), PEX14(5195), PEX13(5194), BCOR(54880), LRP2(4036), PEX1(5189), AIP(9049), LRP5(4041), B3GALTL(145173), ROR2(4920), LBR(3930), MKS1(54903), GJA1(2697), CREBBP(1387), AGL(178), CRELD1(78987), RAB23(51715), JAG1(182), MGAT2(4247), BMPR2(659), RYR2(6262), MKKS(8195), WHCR(7467), CD96(10225), WHSC1(7468), HCCS(3052), ZEB2(9839), FGFR2(2263), CEP290(80184), BBS12(166379), MED12(9968), PTPN11(5781), SOS1(6654), DHCR7(1717), DGCR(1714), GPC6(10082), PQBP1(10084), PEX26(55670), TTC8(123016), FOXC2(2303), TBX5(6910), BBS1(582), BBS2(583), TP63(8626), TBX1(6899), BBS4(585), PEX3(8504), HYLS1(219844), NODAL(4838), NIPBL(25836), SSTR5(6755), BBS10(79738), CFTR(1080), FAM123B(139285), HOXD13(3239), BBS7(55212)]
ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626)	[FBN1(2200), FBN2(2201), FKRP(79147), HIBCH(26275), FBP1(2203), PPOX(5498), CCBE1(147372), H19(283120), DPM1(8813), DNAJC19(131118), HSD11B2(3291), SLC22A5(6584), KCNQ1OT1(10984), FAH(2184), ABCA1(19), HRAS(3265), FANCD2(2177), FANCC(2176), CTSA(5476), DOLK(22845), FANCE(2178), UBR1(197131), HRG(3273), BBS9(27241), GNPTAB(79158), CHRNA1(1134), ACADS(35), PPARG(5468), ACADL(33), ACADVL(37), B3GALTL(145173), FKTN(2218), MPL(4352), C20orf7(79133), SLC12A3(6559), CHRNG(1146), SLC12A1(6557), CHRND(1144), ACTA1(58), ZEB2(9839), FGFR1(2260), FGFR2(2263), BBS12(166379), CDKN1C(1028), POLG(5428), KCTD7(154881), SOS1(6654), CECR(1055), PNMT(5409), ACVRL1(94), FGA(2243), SMN1(6606), CNBP(7555), FOXC2(2303), CETP(1071), SMCR(6600), FOXF1(2294), NDUFA11(126328), HPS1(3257), WNK1(65125), SNCA(6622), CFTR(1080), HOXD13(3239), FASTKD2(22868), GNPTG(84572), ERBB3(2065), TRIM32(22954), PHOX2B(8929), ERCC4(2072), PRPS1(5631), SGCB(6443), STRA6(64220), ERCC6(2074), SGCG(6445), PROC(5624), PROS1(5627), MAP2K1(5604), SGSH(6448), MAP2K2(5605), BLOC1S3(388552), HMBS(3145), ZIC3(7547), PRKCSH(5589), AGA(175), ABCG8(64241), ABCG5(64240), WT1(7490), VMA21(203547), AGTR1(185), PRKAR1A(5573), AHCY(191), AGXT(189), COL1A2(1278), AGL(178), ZNF469(84627), COL1A1(1277), JAG1(182), AGT(183), MYBPC3(4607), WHCR(7467), WFS1(7466), WHSC1(7468), ERCC8(1161), CEP290(80184), MUT(4594), MED12(9968), HGD(3081), TRIM37(4591), SLC17A3(10786), WRN(7486), WNT3(7473), HEXB(3074), CFH(3075), HFE(3077), EVC(2121), SMARCAL1(50485), FRAS1(80144), BEST1(7439), CLCNKB(1188), FANCA(2175), VHL(7428), WNK4(65266), PPP1R3A(5506), VWF(7450), WAS(7454), SCN5A(6331), CPT1A(1374), CPOX(1371), SCN9A(6335), NSD1(64324), HPS5(11234), ANK2(287), ESCO2(157570), ALX3(257), HCN4(10021), UQCRB(7381), UPK3A(7380), SALL1(6299), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), AIP(9049), PEX1(5189), PEX7(5191), DCAF17(80067), C10orf2(56652), SCO2(9997), SLC25A4(291), KCNE2(9992), SLC17A5(26503), SEC63(11231), CREBBP(1387), CPT2(1376), MANBA(4126), ENPP1(5167), APOB(338), SDHD(6392), APOA2(336), APP(351), SDHC(6391), SDHB(6390), SDHA(6389), APOE(348), MECP2(4204), TSFM(10102), PDGFRA(5156), COL5A2(1290), COL6A1(1291), COL5A1(1289), MEFV(4210), COL6A2(1292), COL6A3(1293), GPC6(10082), COL4A1(1282), APOA1(335), COL2A1(1280), FUCA1(2517), COL3A1(1281), COL4A5(1287), PQBP1(10084), TTC8(123016), PEX26(55670), BSCL2(26580), SLC37A4(2542), VPS13B(157680), COX6B1(1340), ABCC6(368), G6PC(2538), SCNN1G(6340), GAA(2548), SCNN1B(6338), CHD7(55636), LDB3(11155), ARSB(411), PLOD1(5351), TWIST1(7291), RPS6KA3(6197), MGP(4256), FLNA(2316), FLNB(2317), IDS(3423), MID1(4281), TTR(7276), TTN(7273), FLT4(2324), PMM2(5373), FMO3(2328), FN1(2335), NKX2-5(1482), FMR1(2332), PKP2(5318), PKHD1(5314), TSPYL1(7259), TSHR(7253), PLAT(5327), SP110(3431), TSC1(7248), TSC2(7249), CFI(3426), ASCL1(429), CRELD1(78987), PLG(5340), MGAT2(4247), RYR2(6262), CD96(10225), ATIC(471), PRKAG2(51422), MPI(4351), SERPINC1(462), CRYAB(1410), PRPF3(9129), PRG4(10216), PKD2(5311), FXN(2395), PKD1(5310), HYLS1(219844), PHYH(5264), HPS4(89781), TPM1(7168), RPS19(6223), RET(5979), ATRX(546), DDC(1644), TGFBR1(7046), AVPR2(554), TGFB3(7043), ACE(1636), REN(5972), GLI3(2737), DCR(1637), THRB(7068), THPO(7066), NPPA(4878), GLB1(2720), GLA(2717), GPC3(2719), NTRK1(4914), MRPS22(56945), CRTAP(10491), ROR2(4920), RAB3GAP2(25782), GJA5(2702), GJA1(2697), KCNQ1(3784), DBH(1621), ATP7A(538), MKKS(8195), BCS1L(617), FGF23(8074), BDNF(627), AAAS(8086), GNS(2799), SBDS(51119), CYP27A1(1593), KCNJ2(3759), KCNJ1(3758), CYP21A2(1589), KCNH2(3757), CYP17A1(1586), KCNE1(3753), CYP11B2(1585), DTNBP1(84062), CYP11B1(1584), TNXB(7148), JUP(3728), BBS1(582), BBS2(583), TNNI3(7137), BBS4(585), GNAI2(2771), NDUFAF4(29078), TNNT2(7139), NIPBL(25836), JAK2(3717), BBS10(79738), CCND1(595), ZFPM2(23414), FAM123B(139285), TPI1(7167), SDHAF1(644096), MLYCD(23417), DMPK(1760), EFEMP2(30008), ARL6(84100), GATA1(2623), BRAF(673), TREX1(11277), KL(9365), TCOF1(6949), BCOR(54880), GALNS(2588), GALNT3(2591), CFC1(55997), MKS1(54903), DOCK8(81704), CSRP3(8048), RECQL4(9401), ETHE1(23474), MRPS16(51021), DMD(1756), HPS6(79803), ISCU(23479), BMPR2(659), EHMT1(79813), ACAD9(28976), ZMPSTE24(10269), DHCR24(1718), DHCR7(1717), GDF1(2657), DGCR(1714), SH3PXD2B(285590), GDNF(2668), TEK(7010), HGSNAT(138050), ALG1(56052), TF(7018), TFAP2B(7021), DES(1674), PCCB(5096), ATP6V0A2(23545), GBA(2629), C4A(720), GBE1(2632), CHST3(9469), PCCA(5095), MYCN(4613), MYOT(9499), GUSB(2990), LYZ(4069), BBS5(129880), SALL4(57167), EDN3(1908), MYH11(4629), IKBKAP(8518), PDE11A(50940), MYH7(4625), AURKC(6795), MYH9(4627), SMAD4(4089), SMAD9(4093), SLC25A20(788), KIF1B(23095), PTGIS(5740), LRP2(4036), LRP5(4041), PTEN(5728), MYLK2(85366), CACNA1C(775), RAI1(10743), RAB23(51715), NAGLU(4669), TCAP(8557), PRSS1(5644), LMNB1(4001), SERPIND1(3053), LMNA(4000), HCCS(3052), EVC2(132884), LOX(4015), PRPS2(5634), SERPINA6(866), LPL(4023), DSP(1832), PRTN3(5657), NDUFA1(4694), LPA(4018), DSG2(1829), CBS(875), DSC2(1824), TBX5(6910), HPS3(84343), CAV3(859), TBX1(6899), PEX3(8504), NDUFS1(4719), SLC26A3(1811), LIFR(3977), TAZ(6901), LIPC(3990), NDUFV1(4723), NDUFS2(4720), HADHB(3032), LIPA(3988), OFD1(8481), HADH(3033), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), HADHA(3030), PAX8(7849), PEX19(5824), EP300(2033), ABCD3(5825), SLC19A2(10560), PEX2(5828), LDLR(3949), PEX5(5830), NDUFAF2(91942), SOX9(6662), SOX2(6657), NF1(4763), ENG(2022), UQCRQ(27089), NSDHL(50814), NEU1(4758), LAMB1(3912), ELN(2006), NDUFAF3(25915), EMD(2010), D2HGDH(728294), INVS(27130), LBR(3930), SPINK1(6690), LAMP2(3920), DNAI1(27019), PTPN11(5781), FBLN5(10516), GSN(2934), NME1(4830), NPHP3(27031), FREM2(341640), ADAMTSL2(9719), NKX2-6(137814), TP63(8626), KRAS(3845), NODAL(4838), MMACHC(25974), SEMA3E(9723), SSTR5(6755), PNP(4860), NOTCH1(4851), NOTCH3(4854), NR3C1(2908)]
ABNORMALITY OF THE CAROTID ARTERIES(HP:0005344)	[ATP7A(538)]
ABNORMALITY OF THE CARPAL BONES(HP:0001191)	[COMP(1311), SALL4(57167), NSD1(64324), FGFR3(2261), EVC2(132884), LMBR1(64327), GDF5(8200), FGFR2(2263), PAX3(5077), FLNA(2316), FLNB(2317), RMRP(6023), NOG(9241), MATN3(4148), DYM(54808), HOXA13(3209), SLC35D1(23169), IHH(3549), WNT7A(7476), EVC(2121), GNPTAB(79158), CANT1(124583), GPC3(2719), TBX5(6910), DDR2(4921), EIF2AK3(9451), EBP(10682), TRPV4(59341), MMP2(4313), POR(5447), RECQL4(9401), PTH1R(5745), BMPR1B(658), ATP7A(538)]
ABNORMALITY OF THE CAUDATE NUCLEUS(HP:0002339)	[VPS13A(23230), TREM2(54209), TYROBP(7305)]
ABNORMALITY OF THE CENTRAL NERVOUS SYSTEM(HP:0002011)	[FBN1(2200), FBN2(2201), HIBCH(26275), SUCLG1(8802), FBP1(2203), TINF2(26277), SPINK5(11005), SACS(26278), CCBE1(147372), DPM1(8813), SLC16A1(6566), TRPM6(140803), SLC16A2(6567), SLC22A5(6584), ABCA1(19), ABAT(18), HESX1(8820), ABCB7(22), FANCD2(2177), FANCC(2176), FANCE(2178), ACADM(34), ACADS(35), ACAT1(38), ACADSB(36), ACADVL(37), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), MPL(4352), MPZ(4359), SLC12A3(6559), MPV17(4358), ACP2(53), SLC12A1(6557), ACTA1(58), PUS1(80324), TNFRSF11A(8792), ACTB(60), SNRPN(6638), FH(2271), UPF3B(65109), FGFR1(2260), FGFR3(2261), FGFR2(2263), FGF14(2259), SOS1(6654), HSPB8(26353), FGF3(2248), FGD1(2245), ACY1(95), SOD1(6647), ACVRL1(94), ACVR1(90), SMN1(6606), FOXC2(2303), MSH2(4436), CCM2(83605), SMCR(6600), NDUFA11(126328), ALOXE3(59344), TRPV4(59341), SNCA(6622), SNCB(6620), SMS(6611), TUBB2B(347733), SMPD1(6609), ERBB2(2064), ABCA12(26154), ERCC2(2068), ERCC3(2071), ERCC6(2074), MTM1(4534), SGSH(6448), C7orf11(136647), MTHFR(4524), TMEM67(91147), ADSL(158), CLN8(2055), MFSD8(256471), AGA(175), AFP(174), SGCE(8910), SPG11(80208), MTMR2(8898), FTCD(10841), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), AGTR1(185), AHCY(191), KIAA1279(26128), OPA3(80207), JAG1(182), AGT(183), EXT2(2132), SQSTM1(8878), SIX3(6496), EXT1(2131), ST3GAL5(8869), CEP290(80184), MVK(4598), MUSK(4593), SLC1A1(6505), EYA1(2138), MUT(4594), EIF2B2(8892), EIF2B5(8893), TRIM37(4591), SLC2A1(6513), SLC2A2(6514), EIF2B4(8890), EIF2B3(8891), GDAP1(54332), ABCD1(215), EVC(2121), PHGDH(26227), PCDH15(65217), SMARCAL1(50485), FRAS1(80144), SHH(6469), F13A1(2162), FANCA(2175), ALDOB(229), TSEN54(283989), ALDOA(226), ALDH3A2(224), MTRR(4552), ALPL(249), F10(2159), MTR(4548), ALOX12B(242), AMT(275), SCN5A(6331), MAOA(4128), SCN9A(6335), NAGS(162417), SCN1A(6323), ANCR(282), MAPT(4137), MAT1A(4143), SLC6A19(340024), SCN2A(6326), ATXN7(6314), ATXN8OS(6315), SLC7A7(9056), ALX3(257), MC2R(4158), ATXN1(6310), ATXN2(6311), SC5DL(6309), SALL1(6299), RAB39B(116442), NUP62(23636), DCAF17(80067), C10orf2(56652), SLC17A5(26503), MAN2B1(4125), MANBA(4126), SLC6A20(54716), SDHD(6392), SDHC(6391), APP(351), SDHB(6390), INPP5E(56623), SDHA(6389), MECP2(4204), APOE(348), PDP1(54704), APC(324), MEFV(4210), PDSS1(23590), FUCA1(2517), FTL(2512), BSCL2(26580), ABCC6(368), IL1RAPL1(11141), ARG1(383), PANK2(80025), AQP2(359), AR(367), UGT1A1(54658), ARSA(410), LGI1(9211), ARSB(411), ARSE(415), LARGE(9215), STS(412), RPS6KA3(6197), MGP(4256), FLNA(2316), FLNB(2317), CIITA(4261), MID1(4281), ATXN3(4287), AFF2(2334), FMR1(2332), ASPA(443), ASS1(445), ASL(435), L2HGDH(79944), ASAH1(427), ADAMTS13(11093), SLC6A5(9152), MGAT2(4247), ATP1A3(478), CTDP1(9150), ATP1A2(477), RYR1(6261), MN1(4330), ATM(472), ATIC(471), FXN(2395), MOCS2(4338), MOCS1(4337), MLH1(4292), ALDH7A1(501), HYLS1(219844), ATP2A2(488), FXYD2(486), TH(7054), AUH(549), TGIF1(7050), GLUD1(2746), ATRX(546), TGM1(7051), ATXN8(724066), ATR(545), TGFBR1(7046), GLRB(2743), CLN6(54982), GLRA1(2741), AVPR2(554), CRBN(51185), MCCC1(56922), TGFB1(7040), GLI3(2737), GLE1(2733), THRB(7068), GLDC(2731), NPHP1(4867), GCLC(2729), NPC1(4864), EMG1(10436), GLB1(2720), TK2(7084), COLQ(8292), GLA(2717), GPC3(2719), NKX2-1(7080), NTRK1(4914), GK(2710), ROR2(4920), GJB1(2705), DDR2(4921), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), ATP7B(540), ATP7A(538), SAR1B(51128), MKKS(8195), FBXO7(25793), OCRL(4952), BCS1L(617), COL18A1(80781), GNS(2799), ATXN10(25814), SBDS(51119), ABHD5(51099), GNAS(2778), BBS1(582), BBS2(583), OPHN1(4983), BBS4(585), TNNT1(7138), NIPBL(25836), SDHAF2(54949), BCKDHA(593), GM2A(2760), CCND1(595), BCKDHB(594), KDM5C(8242), TPI1(7167), TP53(7157), SDHAF1(644096), BTD(686), PLA2G6(8398), ATL1(51062), TBX15(6913), GATA1(2623), CC2D1A(54862), BRAF(673), OTC(5009), GARS(2617), BUB1B(701), HNF1B(6928), GALT(2592), GAMT(2593), SLC46A1(113235), BTK(695), TCIRG1(10312), GALC(2581), PAH(5053), TCOF1(6949), BMP4(652), TCN2(6948), GALE(2582), BCOR(54880), GALNS(2588), BLM(641), PSAT1(29968), MKS1(54903), GABRG2(2566), C20orf54(113278), GNPAT(8443), MRPS16(51021), POMT2(29954), GAD1(2571), PAX6(5080), GGCX(2677), B4GALT1(2683), PAX3(5077), PAX2(5076), GPHN(10243), CA2(760), PARK2(5071), AHI1(54806), FAM20C(56975), DYM(54808), GDI1(2664), GFAP(2670), PAK3(5063), GCH1(2643), COQ9(57017), GCK(2645), PCNT(5116), SOST(50964), CHST14(113189), GCSH(2653), TFAP2B(7021), TFAP2A(7020), PCCB(5096), C8A(731), C8B(732), GBA(2629), APTX(54840), PC(5091), TG(7038), CABC1(56997), PCCA(5095), GCDH(2639), MYCN(4613), GUSB(2990), MYH3(4621), SALL4(57167), AGPS(8540), GJC2(57165), MYF6(4618), IKBKG(8517), PDE11A(50940), IKBKAP(8518), GUCY2D(3000), CDKL5(6792), FOXP2(93986), GYS2(2998), CANT1(124583), MYO7A(4647), MSH6(2956), SLC25A20(788), SEPN1(57190), MYO5A(4644), MCOLN1(57192), SURF1(6834), ABCC8(6833), CACNA1A(773), AP3B1(8546), RAI1(10743), NAGA(4668), NAGLU(4669), SUOX(6821), TAF1(6872), HCCS(3052), KRIT1(889), EVC2(132884), ALG6(29929), NBN(4683), HTT(3064), PDSS2(57107), CUL4B(8450), NDN(4692), NDP(4693), NDUFA1(4694), NDUFA2(4695), CBS(875), HCRT(3060), SYN1(6853), NEB(4703), ALX4(60529), SERPINA7(6906), TBCE(6905), TBP(6908), TBX1(6899), ATCAY(85300), PORCN(64840), PEX3(8504), NDUFS1(4719), RUNX1(861), RUNX2(860), EBP(10682), NDUFS3(4722), NDUFV1(4723), HADHB(3032), NDUFS2(4720), HADH(3033), OFD1(8481), BBS7(55212), NDUFS6(4726), CLDN16(10686), NDUFS4(4724), NDUFS8(4728), CASR(846), HADHA(3030), HSD17B10(3028), PRSS12(8492), SLC4A4(8671), NEFL(4747), SCARB2(950), SPG7(6687), NDUFAF2(91942), SPAST(6683), ALDH4A1(8659), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), NF1(4763), NSDHL(50814), NEU1(4758), POMT1(10585), PTCH2(8643), GPI(2821), NDUFAF3(25915), D2HGDH(728294), NF2(4771), SPTBN2(6712), PNPO(55163), GFM1(85476), JPH3(57338), THAP1(55145), SPR(6697), TNFSF11(8600), PINK1(65018), GSN(2934), NME1(4830), GSS(2937), CHMP2B(25978), TP63(8626), RFXANK(8625), MMACHC(25974), GRN(2896), PDE8B(8622), PNP(4860), PNKD(25953), NOTCH3(4854), FKRP(79147), CHAT(1103), MMADHC(27249), HSD17B4(3295), H19(283120), DNAJC19(131118), SLC35C1(55343), HRAS(3265), COQ2(27235), CTSA(5476), DOLK(22845), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), LYST(1130), HSPB1(3315), C20orf7(79133), CHRNE(1145), CHRND(1144), POR(5447), CHRNB1(1140), CHRNA4(1137), DISC2(27184), ZEB2(9839), BBS12(166379), POLG(5428), KCTD7(154881), POLA1(5422), ASPM(259266), C8orf38(137682), CNBP(7555), HPRT1(3251), PMS2(5395), HOXD13(3239), FASTKD2(22868), CUL7(9820), GNPTG(84572), HPD(3242), PMP22(5376), PRNP(5621), TRIM32(22954), CCT5(22948), PRPS1(5631), STRA6(64220), KIAA0196(9897), PRODH(5625), HMGCL(3155), MAP2K1(5604), MAP2K2(5605), HMBS(3145), ZIC1(7545), MAPK10(5602), FAM126A(84668), HLCS(3141), FGD4(121512), PRKAR1A(5573), PRKCG(5582), COL1A2(1278), RPIA(22934), COL1A1(1277), XPA(7507), RAB3GAP1(22930), WHCR(7467), WFS1(7466), WHSC1(7468), ERCC8(1161), MED12(9968), PPT1(5538), BEAN(146227), WNT3(7473), HEXA(3073), HEXB(3074), CFH(3075), WNT7A(7476), NOP10(55505), CLCN7(1186), PPP2R2B(5521), MFN2(9927), SUFU(51684), CLCNKB(1188), VLDLR(7436), VHL(7428), CLN5(1203), TPP1(1200), CLN3(1201), WAS(7454), VRK1(7443), MNX1(3110), LEPRE1(64175), VCP(7415), CPT1A(1374), PGK1(5230), CPS1(1373), CPOX(1371), NSD1(64324), VDR(7421), ESCO2(157570), CP(1356), COX15(1355), GNE(10020), UQCRB(7381), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), CRH(1392), PEPD(5184), SCO2(9997), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), UCHL1(7345), PDHA1(5160), ENPP1(5167), COMP(1311), PDGFB(5155), NHP2(55651), COL11A2(1302), TSFM(10102), COL6A1(1291), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), COL4A1(1282), IGF1R(3480), COL2A1(1280), UBE3A(7337), TTC8(123016), PEX26(55670), PQBP1(10084), SLC26A4(5172), POMGNT1(55624), VPS13B(157680), UBA1(7317), COX6B1(1340), SLC39A4(55630), SPG21(51324), FLVCR2(55640), IGHMBP2(3508), TTBK2(146057), TYROBP(7305), CHD7(55636), SLC25A15(10166), PLOD1(5351), CTH(1491), TWIST1(7291), PLP1(5354), CTNS(1497), IDS(3423), IYD(389434), TTR(7276), CSTB(1476), TTPA(7274), TTN(7273), ATP6AP2(10159), PMM2(5373), AASS(10157), NKX2-5(1482), LRPPRC(10128), TSHB(7252), TSHR(7253), SP110(3431), TSC1(7248), TSC2(7249), CTSD(1509), ARX(170302), MBTPS2(51360), PLG(5340), HSPG2(3339), MBD5(55777), CD96(10225), HSPD1(3329), LMBRD1(55788), TRH(7200), PKD2(5311), ALG3(10195), MMAB(326625), PHEX(5251), PHKA2(5256), CDK5RAP2(55755), CST3(1471), PHYH(5264), TPM3(7170), SH3TC2(79628), RET(5979), CENPJ(55835), DCX(1641), MMAA(166785), DDC(1644), GAN(8139), DCTN1(1639), ACE(1636), REN(5972), DCR(1637), LRRK2(120892), GCM2(9247), CRLF1(9244), RPGRIP1L(23322), KIF5A(3798), MCPH1(79648), RFX5(5993), KCNMA1(3778), RFXAP(5994), DBT(1629), KCNQ2(3785), VANGL1(81839), KCNQ3(3786), DBH(1621), NDUFS7(374291), KCNJ11(3767), RAPSN(5913), GPR56(9289), MED25(81857), AAAS(8086), KCNC3(3748), CYP27B1(1594), RAG2(5897), CYP27A1(1593), UROC1(131669), RAG1(5896), KCNJ2(3759), KCNJ1(3758), GPR98(84059), KAL1(3730), NDUFAF4(29078), KCNA1(3736), ATP13A2(23400), PABPN1(8106), JAK2(3717), BBS10(79738), SNAP29(9342), FAM123B(139285), IVD(3712), DOK7(285489), MLYCD(23417), AMN(81693), SLC25A22(79751), DMPK(1760), ITPR1(3708), ZIC4(84107), ARL6(84100), B4GALT7(11285), ITGB3(3690), TREX1(11277), CUBN(8029), ALS2(57679), DNM2(1785), DNMT3B(1789), ITGA2B(3674), DLAT(1737), IRF6(3664), DKC1(1736), PARK7(11315), DLD(1738), PRX(57716), DOCK8(81704), RPE65(6121), RECQL4(9401), PDHX(8050), ETHE1(23474), DMD(1756), ZFYVE26(23503), EHMT1(79813), INSR(3643), ACAD9(28976), TNFRSF13B(23495), CYP7B1(9420), INS(3630), DHCR24(1718), RMRP(6023), DGUOK(1716), DHCR7(1717), DGCR(1714), OSTM1(28962), CYB5R3(1727), EPM2A(7957), ITM2B(9445), HGSNAT(138050), ALG1(56052), TIMM8A(1678), EIF2AK3(9451), DES(1674), ATP6V0A2(23545), ARHGEF6(9459), CHST3(9469), MYOT(9499), BBS5(129880), SH2D1A(4068), SETX(23064), EDNRA(1909), EDNRB(1910), RAB7A(7879), PTCH1(5727), SMAD4(4089), TYMP(1890), ECM1(1893), NIPA1(123606), KIF1B(23095), PTH(5741), LRP2(4036), LRP5(4041), PTEN(5728), UPB1(51733), LITAF(9516), ALDH5A1(7915), RAB23(51715), DYT3(1863), TOR1A(1861), ADAMTS2(9509), LMNB1(4001), LMNA(4000), NHLRC1(378884), PRPS2(5634), LMX1B(4010), PSAP(5660), SLC26A2(1836), SPG20(23111), PSEN1(5663), PHF6(84295), BSND(7809), TREM2(54209), NLGN4X(57502), RELN(5649), ATN1(1822), DRD2(1813), PSEN2(5664), TUBA1A(7846), DPYS(1807), PCDH19(57526), ALMS1(7840), MOGS(7841), DPAGT1(1798), PAX8(7849), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), PEX5(5830), ENG(2022), UQCRQ(27089), SLC36A2(153201), PLEKHG5(57449), LAMB2(3913), VPS13A(23230), QDPR(5860), LAMA2(3908), LBR(3930), RAB27A(5873), MLC1(23209), LAMP2(3920), DNAI1(27019), PTPN11(5781), EGR2(1959), L1CAM(3897), EIF2B1(1967), FREM2(341640), NPHP3(27031), ADAMTSL2(9719), NLRP3(114548), KRAS(3845), PTS(5805), EFNB1(1947), SUMF1(285362), SEMA3E(9723), DUOXA2(405753), SLITRK1(114798)]
ABNORMALITY OF THE CEREBELLAR VERMIS(HP:0002334)	[GPC3(2719), TMEM216(51259), OPHN1(4983), ATR(545), SACS(26278), ZIC4(84107), INPP5E(56623), MVK(4598), CEP290(80184), PSAT1(29968), TFAP2A(7020), TUBA1A(7846), CACNA1A(773), MPL(4352), TMEM67(91147), L1CAM(3897), NPHP1(4867), ZIC1(7545), AHI1(54806), RPE65(6121)]
ABNORMALITY OF THE CEREBELLUM(HP:0001317)	[FBN1(2200), FKRP(79147), AUH(549), TINF2(26277), ATXN8(724066), ATR(545), SACS(26278), MYH3(4621), SETX(23064), TGFBR1(7046), GAN(8139), HSD17B4(3295), SLC6A19(340024), DNAJC19(131118), ATXN7(6314), ATXN8OS(6315), NPHP1(4867), GCLC(2729), ABCB7(22), COQ2(27235), NPC1(4864), ATXN1(6310), ATXN2(6311), SC5DL(6309), UQCRB(7381), GPC3(2719), TMEM216(51259), PEX7(5191), MCOLN1(57192), C10orf2(56652), FKTN(2218), SLC9A6(10479), MPL(4352), CACNA1A(773), POR(5447), SIL1(64374), MAN2B1(4125), LMNB1(4001), RAPSN(5913), GPR56(9289), FGFR1(2260), EVC2(132884), INPP5E(56623), BCS1L(617), FGFR2(2263), POLG(5428), FGF14(2259), PDSS2(57107), SPG20(23111), KCNC3(3748), ATXN10(25814), CYP27A1(1593), PDSS1(23590), ACY1(95), FTL(2512), ATN1(1822), POMGNT1(55624), SLC39A4(55630), TBP(6908), OPHN1(4983), ATCAY(85300), PORCN(64840), EBP(10682), TUBA1A(7846), CCND1(595), OFD1(8481), DOK7(285489), TTBK2(146057), PRNP(5621), BTD(686), PLA2G6(8398), LARGE(9215), ERCC3(2071), ITPR1(3708), ZIC4(84107), SPG7(6687), ERCC6(2074), PLP1(5354), BUB1B(701), NPC2(10577), ATXN3(4287), TMEM67(91147), ZIC1(7545), TTPA(7274), FAM126A(84668), CLN8(2055), UQCRQ(27089), PMM2(5373), POMT1(10585), MFSD8(256471), DKC1(1736), PSAT1(29968), SPTBN2(6712), L2HGDH(79944), CTSD(1509), MKS1(54903), RAB27A(5873), PRKCG(5582), PLG(5340), RPE65(6121), RPIA(22934), POMT2(29954), ZFYVE26(23503), CD96(10225), ATP1A2(477), ATM(472), MVK(4598), CEP290(80184), PAX2(5076), DHCR7(1717), L1CAM(3897), AHI1(54806), BEAN(146227), HEXB(3074), NPHP3(27031), EVC(2121), PPP2R2B(5521), COQ9(57017), ALG3(10195), VLDLR(7436), HYLS1(219844), TSEN54(283989), TFAP2A(7020), VHL(7428), PHYH(5264), CLN3(1201), VRK1(7443), APTX(54840), NOTCH3(4854), CABC1(56997)]
ABNORMALITY OF THE CEREBRAL CORTEX(HP:0002538)	[PEX19(5824), FKRP(79147), DCX(1641), FH(2271), CENPJ(55835), PEX2(5828), LARGE(9215), PEX5(5830), RAPSN(5913), ATR(545), GPR56(9289), MECP2(4204), HSD17B4(3295), FREM2(341640), ASPM(259266), POMT1(10585), RELN(5649), PEX26(55670), FRAS1(80144), POMGNT1(55624), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), CDK5RAP2(55755), PEX3(8504), HYLS1(219844), TSC1(7248), ETFDH(2110), TSC2(7249), ETFB(2109), LAMA2(3908), MCPH1(79648), ETFA(2108), TUBA1A(7846), FKTN(2218), SNAP29(9342), DOK7(285489), RECQL4(9401), PC(5091), CPT2(1376), TUBB2B(347733), POMT2(29954)]
ABNORMALITY OF THE CEREBRAL VENTRICLES(HP:0002118)	[PEX19(5824), FKRP(79147), LARGE(9215), ERCC3(2071), PEX5(5830), RPS6KA3(6197), ZIC4(84107), NSD1(64324), HSD17B4(3295), BUB1B(701), ATXN3(4287), ZIC1(7545), MAPK10(5602), NF1(4763), POMT1(10585), ATXN2(6311), GLB1(2720), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), D2HGDH(728294), B3GALTL(145173), PTEN(5728), TSC1(7248), TSC2(7249), FKTN(2218), ARX(170302), SLC12A6(9990), PDHX(8050), MRPS16(51021), CPT2(1376), POMT2(29954), PDHA1(5160), FH(2271), OCRL(4952), FGFR2(2263), TSFM(10102), COL18A1(80781), TRIM37(4591), L1CAM(3897), PEX26(55670), GNAS(2778), TBCE(6905), POMGNT1(55624), OPHN1(4983), PEX3(8504), EBP(10682), TUBA1A(7846), GRN(2896), TP53(7157), GCDH(2639)]
ABNORMALITY OF THE CEREBRAL WHITE MATTER(HP:0002500)	[SLC25A15(10166), ARSA(410), ACADS(35), FKRP(79147), D2HGDH(728294), ERCC6(2074), TSC1(7248), POLG(5428), LAMA2(3908), PSAP(5660), MLC1(23209), GJA1(2697), TREX1(11277), NAGA(4668), TYMP(1890)]
ABNORMALITY OF THE CEREBRUM(HP:0002060)	[FBN1(2200), FKRP(79147), HIBCH(26275), DCX(1641), CENPJ(55835), AUH(549), TINF2(26277), ATRX(546), MMADHC(27249), ATR(545), HSD17B4(3295), DPM1(8813), ACE(1636), REN(5972), SLC16A2(6567), GLI3(2737), SLC35C1(55343), GLDC(2731), GCM2(9247), HRAS(3265), HESX1(8820), RPGRIP1L(23322), FANCD2(2177), DOLK(22845), FANCC(2176), FANCE(2178), EMG1(10436), UBR1(197131), GLB1(2720), ACADM(34), TK2(7084), ACADS(35), GPC3(2719), ACADSB(36), B3GALTL(145173), SLC6A8(6535), DDR2(4921), MCPH1(79648), FKTN(2218), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), C20orf7(79133), GJA1(2697), DBT(1629), MPV17(4358), VANGL1(81839), POR(5447), PUS1(80324), ATP7A(538), FH(2271), RAPSN(5913), ZEB2(9839), GPR56(9289), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), POLG(5428), AAAS(8086), KCNJ2(3759), ACY1(95), ACVRL1(94), ASPM(259266), GNAS(2778), NDUFA11(126328), NDUFAF4(29078), NIPBL(25836), BCKDHA(593), KDM5C(8242), SNAP29(9342), BCKDHB(594), FAM123B(139285), DOK7(285489), SDHAF1(644096), TUBB2B(347733), PRNP(5621), PLA2G6(8398), BTD(686), SLC25A22(79751), ERCC2(2068), TBX15(6913), ERCC3(2071), ZIC4(84107), PRPS1(5631), ERCC6(2074), BRAF(673), OTC(5009), MAP2K1(5604), MAP2K2(5605), BUB1B(701), MTHFR(4524), ZIC1(7545), HNF1B(6928), MAPK10(5602), ALS2(57679), TREX1(11277), CLN8(2055), SLC46A1(113235), PAH(5053), GALC(2581), BMP4(652), AGA(175), MFSD8(256471), SPG11(80208), DLAT(1737), DKC1(1736), DLD(1738), PSAT1(29968), BLM(641), ETFDH(2110), ETFB(2109), ETFA(2108), MKS1(54903), AGTR1(185), GNPAT(8443), RECQL4(9401), RPIA(22934), PDHX(8050), MRPS16(51021), KIAA1279(26128), ETHE1(23474), AGT(183), RAB3GAP1(22930), XPA(7507), GAD1(2571), POMT2(29954), ZFYVE26(23503), WHCR(7467), WFS1(7466), EHMT1(79813), WHSC1(7468), SIX3(6496), ACAD9(28976), ERCC8(1161), ST3GAL5(8869), MVK(4598), PAX3(5077), EYA1(2138), MUT(4594), EIF2B2(8892), MED12(9968), DHCR24(1718), EIF2B5(8893), GPHN(10243), PPT1(5538), DGUOK(1716), CA2(760), DHCR7(1717), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), FAM20C(56975), DYM(54808), CYB5R3(1727), PAK3(5063), PHGDH(26227), NOP10(55505), FRAS1(80144), PPP2R2B(5521), SHH(6469), ALG1(56052), PCNT(5116), FANCA(2175), TSEN54(283989), GCSH(2653), TFAP2A(7020), EIF2AK3(9451), PCCB(5096), TPP1(1200), CLN3(1201), ATP6V0A2(23545), GBA(2629), MTR(4548), PC(5091), PCCA(5095), AMT(275), VCP(7415), MYCN(4613), CPS1(1373), MYH3(4621), NSD1(64324), ANCR(282), MAPT(4137), GJC2(57165), IKBKG(8517), ESCO2(157570), ALX3(257), CDKL5(6792), PTCH1(5727), SMAD4(4089), FOXP2(93986), TYMP(1890), ECM1(1893), SC5DL(6309), SALL1(6299), TMEM216(51259), PEX10(5192), PTH(5741), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), MCOLN1(57192), CRH(1392), C10orf2(56652), AP3B1(8546), SLC17A5(26503), CREBBP(1387), SIL1(64374), SLC12A6(9990), NAGA(4668), CPT2(1376), PDHA1(5160), LMNB1(4001), HCCS(3052), KRIT1(889), NHP2(55651), SDHA(6389), NBN(4683), MECP2(4204), PRPS2(5634), PSAP(5660), PSEN1(5663), PHF6(84295), IGF1(3479), IGBP1(3476), NDUFA1(4694), TREM2(54209), COL4A1(1282), IGF1R(3480), FUCA1(2517), UBE3A(7337), RELN(5649), FTL(2512), PQBP1(10084), PEX26(55670), TBCE(6905), POMGNT1(55624), VPS13B(157680), ABCC6(368), TBP(6908), TBX1(6899), PORCN(64840), PEX3(8504), NDUFS1(4719), TUBA1A(7846), NDUFV1(4723), FLVCR2(55640), NDUFS2(4720), OFD1(8481), PANK2(80025), NDUFS6(4726), NDUFS4(4724), DPAGT1(1798), TYROBP(7305), CASR(846), CHD7(55636), SLC25A15(10166), PEX19(5824), ARSA(410), EP300(2033), PEX2(5828), ARSE(415), LARGE(9215), PEX5(5830), RPS6KA3(6197), MGP(4256), SPG7(6687), PLP1(5354), NDUFAF2(91942), CTNS(1497), MID1(4281), SOX2(6657), ENG(2022), PMM2(5373), POMT1(10585), ASPA(443), NDUFAF3(25915), VPS13A(23230), ASS1(445), D2HGDH(728294), ASL(435), SP110(3431), TSC1(7248), TSC2(7249), LAMA2(3908), L2HGDH(79944), PNPO(55163), CTSD(1509), MLC1(23209), ARX(170302), GFM1(85476), SPR(6697), CTDP1(9150), CD96(10225), ATP1A2(477), HSPD1(3329), L1CAM(3897), EIF2B1(1967), FREM2(341640), MOCS2(4338), MOCS1(4337), CHMP2B(25978), ALG3(10195), CDK5RAP2(55755), KRAS(3845), HYLS1(219844), SEMA3E(9723), EFNB1(1947), MMACHC(25974), GRN(2896), PDE8B(8622), NOTCH3(4854)]
ABNORMALITY OF THE CERVICAL SPINE(HP:0003319)	[FBN1(2200), FBN2(2201), GUSB(2990), ATRX(546), MYH3(4621), FLNB(2317), IDS(3423), ESCO2(157570), GLE1(2733), SOX9(6662), BUB1B(701), HRAS(3265), SLC35D1(23169), GLB1(2720), CHRNA1(1134), GALNS(2588), DDR2(4921), MKS1(54903), CHRNG(1146), CHRND(1144), KIAA1279(26128), MGAT2(4247), TRAPPC2(6399), HSPG2(3339), RAPSN(5913), FGFR1(2260), FGFR2(2263), MECP2(4204), MED12(9968), PTPN11(5781), SLC26A2(1836), RMRP(6023), SOS1(6654), IGBP1(3476), DYM(54808), GPC6(10082), FGD1(2245), COL2A1(1280), GDF6(392255), SMARCAL1(50485), GNAS(2778), TRIP11(9321), TNNI2(7136), WISP3(8838), TNNT3(7140), NIPBL(25836), EFNB1(1947), TFAP2A(7020), ALDOA(226), LIFR(3977), EBP(10682), TRPV4(59341), DLL3(10683), OFD1(8481), MMP2(4313), DOK7(285489), CUL7(9820), GNPTG(84572), TPM2(7169), CHST3(9469)]
ABNORMALITY OF THE CHEEKS(HP:0004426)	[PCCB(5096), HSPG2(3339), GNAS(2778), LMNA(4000), CRLF1(9244), SH3PXD2B(285590), PCCA(5095)]
ABNORMALITY OF THE CHIN(HP:0000306)	[RET(5979), RPS6KA3(6197), MYH3(4621), ANCR(282), NSD1(64324), ERCC6(2074), FLNA(2316), TGFB1(7040), EDA(1896), CDKL5(6792), PTCH1(5727), GNPTAB(79158), GLB1(2720), FMR1(2332), UPK3A(7380), GALNS(2588), LRP5(4041), SLC6A8(6535), SLC9A6(10479), CHRNE(1145), RECQL4(9401), CHRNB1(1140), MAN2B1(4125), TNFSF11(8600), UPF3B(65109), EHMT1(79813), INSR(3643), RAPSN(5913), ZEB2(9839), FGFR1(2260), ERCC8(1161), MECP2(4204), FGFR2(2263), MUSK(4593), PAX3(5077), EYA1(2138), PTPN11(5781), SOS1(6654), DYM(54808), UBE3A(7337), PQBP1(10084), BSCL2(26580), ANKH(56172), SOST(50964), OPHN1(4983), PORCN(64840), KDM5C(8242), GORAB(92344), AGPAT2(10555)]
ABNORMALITY OF THE CHOANAE(HP:0000415)	[TCOF1(6949), FRAS1(80144), SHH(6469), FOXE1(2304), TP63(8626), FGFR1(2260), SALL4(57167), NBN(4683), FGFR2(2263), SEMA3E(9723), NIPBL(25836), ZMPSTE24(10269), MED12(9968), HOXD13(3239), FAM20C(56975), POR(5447), WNT3(7473), RECQL4(9401), PTH1R(5745), FREM2(341640), CHD7(55636)]
ABNORMALITY OF THE CHOROID(HP:0000610)	[SLC25A15(10166), EP300(2033), RPGR(6103), RP2(6102), CYP4V2(285440), INPP5E(56623), MED12(9968), RS1(6247), TRIM37(4591), CECR(1055), TEAD1(7003), OAT(4942), SALL1(6299), CRX(1406), TMEM216(51259), BEST1(7439), VPS13B(157680), VCAN(1462), PORCN(64840), CHML(1122), CHM(1121), GJA1(2697), CREBBP(1387), JAG1(182), CRB1(23418)]
ABNORMALITY OF THE CHOROID PLEXUS(HP:0007376)	[GNAS(2778), FH(2271), TP53(7157)]
ABNORMALITY OF THE CHROMOSOMES(HP:0002916)	[SHH(6469), MN1(4330), FANCA(2175), PTEN(5728), TSC1(7248), BLM(641), TSC2(7249), NF2(4771), MCPH1(79648), SEC23B(10483), LBR(3930), ESCO2(157570), POLA1(5422), CDAN1(146059), FANCD2(2177), FANCC(2176), FANCE(2178), FMR1(2332)]
ABNORMALITY OF THE CLAVICLES(HP:0000889)	[FBN1(2200), TBCE(6905), LMNA(4000), TBX15(6913), SOST(50964), PORCN(64840), TBX3(6926), LRP5(4041), EFNB1(1947), FLNA(2316), B4GALT7(11285), ZMPSTE24(10269), RUNX2(860), LBR(3930), MSX2(4488), HOXD13(3239), CHRNG(1146), SLC35D1(23169), NSDHL(50814), WNT7A(7476), ATP7A(538)]
ABNORMALITY OF THE CLITORIS(HP:0000056)	[PEX19(5824), ABCD3(5825), SNRPN(6638), CD96(10225), INSR(3643), PEX2(5828), HCCS(3052), PEX5(5830), ATR(545), ATIC(471), ESCO2(157570), NDN(4692), FREM2(341640), UBR1(197131), PEX26(55670), CYP11B1(1584), BSCL2(26580), FRAS1(80144), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PORCN(64840), B3GALTL(145173), PEX3(8504), ROR2(4920), AGPAT2(10555), POR(5447)]
ABNORMALITY OF THE COCCYX(HP:0008519)	[TRPV4(59341), TBX15(6913)]
ABNORMALITY OF THE COLUMELLA(HP:0009929)	[EP300(2033), NOG(9241), ALX3(257), CREBBP(1387), ZEB2(9839)]
ABNORMALITY OF THE CONJUNCTIVA(HP:0000502)	[BTD(686), GJB6(10804), DDB2(1643), ERCC2(2068), ATM(472), SETX(23064), TNFRSF13B(23495), FGFR2(2263), ERCC6(2074), FGF23(8074), POLH(5429), AIRE(326), COL7A1(1294), RAG2(5897), ENG(2022), RAG1(5896), KL(9365), SAMD9(54809), BTK(695), CTSA(5476), FUCA1(2517), ACVRL1(94), FOXC2(2303), NLRP3(114548), TP63(8626), DKC1(1736), GALNT3(2591), UROS(7390), GJB2(2706), XPC(7508), ICOS(29851), XPA(7507), MANBA(4126)]
ABNORMALITY OF THE CORNEA(HP:0000481)	[FKRP(79147), FBN2(2201), DDB2(1643), GUSB(2990), TINF2(26277), BBS5(129880), TACSTD2(4070), TGFBI(7045), ESCO2(157570), IKBKG(8517), IKBKAP(8518), SLC4A11(83959), GUCY2D(3000), CTSA(5476), BBS9(27241), GNPTAB(79158), GLB1(2720), SC5DL(6309), PEX10(5192), PEX14(5195), NTRK1(4914), SAT1(6303), PEX13(5194), PEX1(5189), B3GALTL(145173), UROS(7390), PTEN(5728), MCOLN1(57192), GJB2(2706), VSX1(30813), FKTN(2218), GJA8(2703), GJA1(2697), RAB23(51715), CACNA1F(778), TRAPPC2(6399), MKKS(8195), HCCS(3052), APOB(338), CYP4V2(285440), APOA2(336), FGFR3(2261), COL8A2(1296), BBS12(166379), POLH(5429), APOC2(344), LMX1B(4010), COL18A1(80781), AIRE(326), FGF10(2255), LPL(4023), PIKFYVE(200576), COL7A1(1294), NDP(4693), APOA1(335), COL3A1(1281), PEX26(55670), TTC8(123016), FOXC2(2303), CHST6(4166), FOXE3(2301), SLC37A4(2542), BBS1(582), BBS2(583), G6PC(2538), TBX1(6899), BBS4(585), PEX3(8504), NIPBL(25836), LIFR(3977), BBS10(79738), BBS7(55212), CLDN16(10686), UBIAD1(29914), PEX19(5824), ABCD3(5825), PLOD1(5351), ARSB(411), SLC4A4(8671), PEX2(5828), LARGE(9215), ERCC2(2068), LDLR(3949), PEX5(5830), TRIM32(22954), TBX15(6913), STS(412), ARL6(84100), ERCC6(2074), CTNS(1497), FLNB(2317), POMT1(10585), OSMR(9180), BCOR(54880), GALNS(2588), KERA(11081), FOXL2(668), LCAT(3931), MKS1(54903), RPE65(6121), RECQL4(9401), XPC(7508), ZNF469(84627), KIAA1279(26128), JAG1(182), RAB3GAP1(22930), XPA(7507), POMT2(29954), CTDP1(9150), HSPG2(3339), NHS(4810), PAX6(5080), DNAI1(27019), ERCC8(1161), CEP290(80184), TRIM37(4591), DGCR(1714), RAX(30062), GSN(2934), FREM2(341640), PITX3(5309), PITX2(5308), SMARCAL1(50485), FRAS1(80144), ST14(6768), BEST1(7439), KRT3(3850), ALDH3A2(224), MMP2(4313), GBA(2629), KRT12(3859)]
ABNORMALITY OF THE CORONARY ARTERIES(HP:0006704)	[GLA(2717), ENPP1(5167), ABCG8(64241), SERPIND1(3053), LMNA(4000), ABCG5(64240), ABCC6(368), LDLR(3949), APOB(338), APOA2(336), APOE(348), LIPC(3990), HGD(3081), TTR(7276), LPL(4023), CYP27A1(1593), MYH9(4627), APOA1(335), CBS(875), GLB1(2720)]
ABNORMALITY OF THE CORPUS CALLOSUM(HP:0001273)	[AMT(275), PEX19(5824), FKRP(79147), EP300(2033), HIBCH(26275), DCX(1641), LARGE(9215), PEX5(5830), NSD1(64324), ERCC6(2074), HSD17B4(3295), BRAF(673), GLI3(2737), MAP2K1(5604), MAP2K2(5605), MID1(4281), ALX3(257), BUB1B(701), GLDC(2731), SOX2(6657), HESX1(8820), MAPK10(5602), POMT1(10585), GPC3(2719), ASPA(443), TMEM216(51259), SPG11(80208), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PTEN(5728), B3GALTL(145173), CRH(1392), MCOLN1(57192), L2HGDH(79944), MKS1(54903), FKTN(2218), GFM1(85476), ARX(170302), CREBBP(1387), RECQL4(9401), PDHX(8050), SLC12A6(9990), MRPS16(51021), CPT2(1376), RAB3GAP1(22930), POMT2(29954), ZFYVE26(23503), CD96(10225), PDHA1(5160), HCCS(3052), ZEB2(9839), FGFR2(2263), MED12(9968), DHCR24(1718), DHCR7(1717), L1CAM(3897), IGBP1(3476), TREM2(54209), PEX26(55670), VPS13B(157680), PORCN(64840), KRAS(3845), PEX3(8504), HYLS1(219844), GCSH(2653), EFNB1(1947), TUBA1A(7846), OFD1(8481), SNAP29(9342), FAM123B(139285), TYROBP(7305)]
ABNORMALITY OF THE CORTICOSPINAL TRACT(HP:0002492)	[ARSA(410), ATL1(51062), LARGE(9215), DDC(1644), SACS(26278), SETX(23064), CCT5(22948), GJC2(57165), SPG7(6687), KIAA0196(9897), PLP1(5354), NDUFAF2(91942), SLC16A2(6567), SPAST(6683), ATXN7(6314), ATXN3(4287), ABCB7(22), FAM126A(84668), ALS2(57679), ATXN1(6310), NIPA1(123606), NDUFAF3(25915), SPG11(80208), KIF5A(3798), MCOLN1(57192), ACOX1(51), C20orf7(79133), OPA3(80207), MAN2B1(4125), GAD1(2571), CTDP1(9150), ZFYVE26(23503), FBXO7(25793), LMNB1(4001), GPR56(9289), SDHA(6389), MECP2(4204), CYP7B1(9420), HSPD1(3329), PSAP(5660), AAAS(8086), SPG20(23111), PSEN1(5663), L1CAM(3897), SLC2A1(6513), NDUFA1(4694), TREM2(54209), SOD1(6647), FXN(2395), BSCL2(26580), CHMP2B(25978), MFN2(9927), NDUFA11(126328), NDUFAF4(29078), KCNA1(3736), NDUFS1(4719), ATP13A2(23400), NDUFV1(4723), NDUFS2(4720), KDM5C(8242), PANK2(80025), NDUFS6(4726), NDUFS4(4724), TYROBP(7305), SDHAF1(644096)]
ABNORMALITY OF THE CRANIAL NERVES(HP:0001291)	[TNFSF11(8600), CLCN7(1186), SQSTM1(8878), LYST(1130), SDHD(6392), SOST(50964), ZIC4(84107), SDHC(6391), SDHB(6390), SEMA3E(9723), NF2(4771), TGFB1(7040), EYA1(2138), SDHAF2(54949), ESCO2(157570), CA2(760), ZIC1(7545), C20orf54(113278), TNFRSF11A(8792), CHD7(55636), TCIRG1(10312)]
ABNORMALITY OF THE CURVATURE OF THE VERTEBRAL COLLUMN(HP:0010674)	[SH3TC2(79628), FBN1(2200), FBN2(2201), FKRP(79147), RET(5979), NPR2(4882), ATRX(546), ATR(545), TGFBR1(7046), CCBE1(147372), TGFB1(7040), SLC16A2(6567), CRLF1(9244), ADAMTS10(81794), PPIB(5479), GNPTAB(79158), GLB1(2720), CHRNA1(1134), COLQ(8292), SBF2(81846), ACADS(35), GPC3(2719), KIF5A(3798), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), DDR2(4921), RAB3GAP2(25782), GJA1(2697), MPZ(4359), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), ACTA1(58), ATP7A(538), ACTB(60), SNRPN(6638), UPF3B(65109), FGFR3(2261), OCRL(4952), SOS1(6654), HSPB8(26353), FGD1(2245), KCNJ2(3759), GDF6(392255), ACVR1(90), FOXC2(2303), SMCR(6600), TNNI2(7136), TNNT3(7140), TRPV4(59341), HOXD13(3239), FAM123B(139285), CUL7(9820), GNPTG(84572), PMP22(5376), SMS(6611), ATL1(51062), ROBO3(64221), ERCC6(2074), SGCA(6442), SGCG(6445), GARS(2617), ALS2(57679), FAM126A(84668), AGA(175), MTMR2(8898), GALNS(2588), FGD4(121512), PRX(57716), PRKAR1A(5573), GNPAT(8443), COL1A2(1278), RECQL4(9401), ZNF469(84627), COL1A1(1277), DMD(1756), RAB3GAP1(22930), GAD1(2571), WHCR(7467), SIX3(6496), WHSC1(7468), ERCC8(1161), ZMPSTE24(10269), MED12(9968), HGD(3081), RMRP(6023), DGCR(1714), DYM(54808), GDAP1(54332), SMARCAL1(50485), MFN2(9927), CLCF1(23529), WISP3(8838), TFAP2A(7020), EIF2AK3(9451), SHOX(6473), ALDH3A2(224), ATP6V0A2(23545), CHST3(9469), APTX(54840), LEPRE1(64175), VCP(7415), BIN1(274), GUSB(2990), SETX(23064), SALL4(57167), MYH3(4621), ANCR(282), NSD1(64324), MAPT(4137), IKBKG(8517), PDE11A(50940), IKBKAP(8518), CDKL5(6792), MATN3(4148), PAPSS2(9060), PTCH1(5727), GNE(10020), IHH(3549), CANT1(124583), SEPN1(57190), AIP(9049), LRP5(4041), PEX7(5191), PTEN(5728), UPB1(51733), CREBBP(1387), SIL1(64374), RAI1(10743), SLC12A6(9990), RAB23(51715), MAN2B1(4125), TOR1A(1861), TRAPPC2(6399), COMP(1311), LMNA(4000), MECP2(4204), COL11A2(1302), LMX1B(4010), SLC26A2(1836), COL6A1(1291), CUL4B(8450), NDN(4692), PHF6(84295), IGBP1(3476), COL6A2(1292), COL6A3(1293), COL2A1(1280), UBE3A(7337), CBS(875), FUCA1(2517), PQBP1(10084), NEB(4703), VPS13B(157680), UBA1(7317), TBX5(6910), ABCC6(368), TBX1(6899), PORCN(64840), LIFR(3977), RUNX2(860), EBP(10682), ALMS1(7840), MOGS(7841), HSD17B10(3028), CHD7(55636), EP300(2033), ARSB(411), PLOD1(5351), RPS6KA3(6197), SPG7(6687), FLNA(2316), FLNB(2317), IDS(3423), SOX9(6662), NF1(4763), NSDHL(50814), PMM2(5373), POMT1(10585), FMR1(2332), PLEKHG5(57449), LAMA2(3908), ARX(170302), CTSK(1513), MGAT2(4247), CTDP1(9150), HSPG2(3339), TRPS1(7227), CD96(10225), RYR1(6261), PTPN11(5781), EGR2(1959), L1CAM(3897), FXN(2395), STAT3(6774), SEMA3E(9723), MMP2(4313), TPM2(7169)]
ABNORMALITY OF THE DENTAL PULP(HP:0006479)	[DSPP(1834), KL(9365), GALNT3(2591), FGF23(8074)]
ABNORMALITY OF THE DIAPHRAGM(HP:0000775)	[LAMB1(3912), GPC3(2719), HCCS(3052), EFEMP2(30008), LRP2(4036), PORCN(64840), ERCC4(2072), LOX(4015), HYLS1(219844), STRA6(64220), WT1(7490), NIPBL(25836), MTM1(4534), IGHMBP2(3508), CHRNG(1146), FBLN5(10516), AURKC(6795), GAA(2548), WNT3(7473)]
ABNORMALITY OF THE DIAPHYSES(HP:0000940)	[TNFSF11(8600), LBR(3930), CA2(760), TBXAS1(6916), ANO5(203859), FLNA(2316), TGFB1(7040)]
ABNORMALITY OF THE DISTAL FEMORAL EPIPHYSIS(HP:0010590)	[IHH(3549), COL11A1(1301)]
ABNORMALITY OF THE DISTAL PHALANGES OF THE HAND(HP:0009832)	[TRPS1(7227), ARSE(415), TWIST1(7291), LMNA(4000), GGCX(2677), RPS6KA3(6197), MGP(4256), FGFR2(2263), H19(283120), FLNA(2316), ZMPSTE24(10269), GLI3(2737), NOG(9241), PHF6(84295), DSP(1832), HOXA13(3209), COL2A1(1280), IHH(3549), CANT1(124583), GPC3(2719), PCNT(5116), TFAP2B(7021), ROR2(4920), DDR2(4921), KDM5C(8242), HOXD13(3239), CTSC(1075), CHST3(9469), CTSK(1513), JAG1(182)]
ABNORMALITY OF THE DISTAL PHALANGES OF THE TOES(HP:0010182)	[NOG(9241), CANT1(124583)]
ABNORMALITY OF THE DISTAL PHALANX OF THE 5TH FINGER(HP:0004225)	[TFAP2B(7021), H19(283120)]
ABNORMALITY OF THE DISTAL PHALANX OF THE HALLUX(HP:0010053)	[CANT1(124583)]
ABNORMALITY OF THE DISTAL PHALANX OF THE THUMB(HP:0009617)	[SLC26A2(1836), FLNB(2317), CANT1(124583), GLI3(2737)]
ABNORMALITY OF THE DUODENUM(HP:0002246)	[MYCN(4613), SALL1(6299), GATA1(2623), PLG(5340), DCR(1637)]
ABNORMALITY OF THE EARS(HP:0000598)	[FBN1(2200), FBN2(2201), FKRP(79147), CCBE1(147372), HSD17B4(3295), H19(283120), SLC16A2(6567), SLC35C1(55343), KCNQ1OT1(10984), HRAS(3265), SNAI2(6591), CDH23(64072), COQ2(27235), FANCD2(2177), FANCC(2176), CTSA(5476), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), TMC1(117531), NOD2(64127), B3GALTL(145173), SLC6A8(6535), POU3F4(5456), ACOX1(51), FKTN(2218), C20orf7(79133), MPZ(4359), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), TNFRSF11A(8792), ACTB(60), ACTG1(71), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CDKN1C(1028), POLG(5428), FGF10(2255), SOS1(6654), FGF3(2248), HOXA11(3207), CECR(1055), POLA1(5422), FGD1(2245), ACY1(95), GDF6(392255), ACVR1(90), C8orf38(137682), FOXI1(2299), SMCR(6600), NDUFA11(126328), FASTKD2(22868), PMP22(5376), ERCC2(2068), TRIM32(22954), ERCC3(2071), EYA4(2070), PHOX2B(8929), ERCC4(2072), PRPS1(5631), STRA6(64220), ERCC6(2074), MAP2K1(5604), SGSH(6448), MAP2K2(5605), MAPK10(5602), HOXA2(3199), ETFDH(2110), ETFB(2109), ETFA(2108), COL1A2(1278), ZNF469(84627), KIAA1279(26128), COL1A1(1277), JAG1(182), RAB3GAP1(22930), XPA(7507), WHCR(7467), WFS1(7466), SQSTM1(8878), WHSC1(7468), ERCC8(1161), CEP290(80184), MVK(4598), EYA1(2138), MED12(9968), HGD(3081), HGF(3082), BEAN(146227), WNT3(7473), ABCD1(215), EVC(2121), PCDH15(65217), FRAS1(80144), MFN2(9927), CLCNKB(1188), FANCA(2175), WAS(7454), NSD1(64324), ESCO2(157570), USH2A(7399), SLC4A11(83959), ALX3(257), COX15(1355), GNE(10020), SC5DL(6309), CLRN1(7401), UQCRB(7381), UPK3A(7380), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), IL2RG(3561), DCAF17(80067), C10orf2(56652), SLC25A4(291), CREBBP(1387), SLC12A6(9990), CPT2(1376), MAN2B1(4125), MANBA(4126), SDHD(6392), SDHC(6391), SDHB(6390), SDHA(6389), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), COL5A2(1290), COL6A1(1291), COL4A6(1288), COL5A1(1289), IGF1(3479), IGBP1(3476), COL6A2(1292), COL6A3(1293), PDSS1(23590), USH1C(10083), COL2A1(1280), FUCA1(2517), COL3A1(1281), COL4A4(1286), COL4A5(1287), SLC26A4(5172), TTC8(123016), PEX26(55670), PQBP1(10084), COL4A3(1285), COX6B1(1340), TYR(7299), GAA(2548), CHD7(55636), ARSB(411), ARSE(415), LARGE(9215), TWIST1(7291), RPS6KA3(6197), MGP(4256), GRHL2(79977), FLNA(2316), FLNB(2317), IDS(3423), TTR(7276), MITF(4286), PMM2(5373), NKX2-5(1482), FMR1(2332), ASPA(443), TRIOBP(11078), L2HGDH(79944), CFI(3426), CTSD(1509), ASCL1(429), PLG(5340), MGAT2(4247), HSPG2(3339), TRPS1(7227), CD96(10225), ATP1A2(477), ATIC(471), LMBRD1(55788), KCNQ4(9132), ALG3(10195), PHEX(5251), DCLRE1C(64421), HYLS1(219844), PHYH(5264), MMP2(4313), TPM2(7169), SH3TC2(79628), RET(5979), ATRX(546), ATR(545), TGFB1(7040), GLI3(2737), DCR(1637), RDX(5962), NOG(9241), THRB(7068), MYO15A(51168), GLB1(2720), TK2(7084), SBF2(81846), GPC3(2719), CRTAP(10491), SEC23A(10484), ATP6V1B1(525), ROR2(4920), GJB2(2706), MARVELD2(153562), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), KCNQ1(3784), NDUFS7(374291), KCNJ11(3767), MKKS(8195), NDRG1(10397), RAPSN(5913), GDF5(8200), BCS1L(617), BDNF(627), AAAS(8086), GNS(2799), RAG2(5897), RAG1(5896), KCNJ2(3759), KCNJ1(3758), GPR98(84059), OPA1(4976), ABHD5(51099), GNAS(2778), BBS1(582), BBS2(583), OPHN1(4983), TNNI2(7136), BBS4(585), NDUFAF4(29078), TNNT3(7140), NIPBL(25836), SDHAF2(54949), BBS10(79738), ZFPM2(23414), SNAP29(9342), KDM5C(8242), FAM123B(139285), DOK7(285489), BTD(686), PLA2G6(8398), TMPRSS3(64699), TBX15(6913), ARL6(84100), GATA1(2623), BRAF(673), B4GALT7(11285), BUB1B(701), BTK(695), LHX3(8022), TCIRG1(10312), DNMT3B(1789), GALC(2581), DIAPH1(1729), TCOF1(6949), BMP4(652), GALE(2582), OTOF(9381), BCOR(54880), GALNS(2588), DLD(1738), BLM(641), MYH14(79784), FOXL2(668), MKS1(54903), C20orf54(113278), RECQL4(9401), MRPS16(51021), DMP1(1758), POMT2(29954), EHMT1(79813), INSR(3643), TNFRSF13B(23495), PAX3(5077), ZMPSTE24(10269), PAX2(5076), INS(3630), DHCR24(1718), DHCR7(1717), GDF1(2657), DGCR(1714), AHI1(54806), FAM20C(56975), TECTA(7007), PAK3(5063), GDNF(2668), ITM2B(9445), COQ9(57017), HGSNAT(138050), GCK(2645), PCNT(5116), CLCF1(23529), SOST(50964), CHST14(113189), TIMM8A(1678), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), GATA3(2625), DFNA5(1687), GBA(2629), ARHGEF6(9459), APTX(54840), CABC1(56997), MYCN(4613), GUSB(2990), BBS5(129880), SALL4(57167), MYH3(4621), EDN3(1908), EDNRB(1910), GUCY2D(3000), USH1G(124590), AURKC(6795), MYH9(4627), TYMP(1890), MYO7A(4647), LRP2(4036), LRP5(4041), PTEN(5728), SURF1(6834), ABCC8(6833), CACNA1A(773), AP3B1(8546), RAI1(10743), NAGA(4668), RAB23(51715), PTH1R(5745), NAGLU(4669), ICOS(29851), HCCS(3052), NBN(4683), PRPS2(5634), LMX1B(4010), SLC26A2(1836), PDSS2(57107), PHF6(84295), NDP(4693), BSND(7809), DSPP(1834), NDUFA1(4694), NDUFA2(4695), NEB(4703), ANKH(56172), TBCE(6905), TBX1(6899), PORCN(64840), PEX3(8504), NDUFS1(4719), LIFR(3977), RUNX2(860), EBP(10682), NDUFS3(4722), TAP1(6890), NDUFV1(4723), TAP2(6891), NDUFS2(4720), OFD1(8481), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), TAPBP(6892), NDUFS8(4728), HSD17B10(3028), PEX19(5824), EP300(2033), ABCD3(5825), SLC19A2(10560), PEX2(5828), PEX5(5830), NDUFAF2(91942), SOX10(6663), SOX9(6662), SOX2(6657), NF1(4763), NSDHL(50814), UQCRQ(27089), NEU1(4758), POMT1(10585), NDUFAF3(25915), NF2(4771), LBR(3930), NHS(4810), DNAI1(27019), PTPN11(5781), FREM2(341640), ADAMTSL2(9719), NLRP3(114548), TP63(8626), KRAS(3845), SUMF1(285362), MMACHC(25974), SEMA3E(9723), PNP(4860), PVRL1(5818), SPTLC1(10558)]
ABNORMALITY OF THE ELBOW(HP:0009811)	[FBN1(2200), PEX19(5824), ABCD3(5825), FBN2(2201), PEX2(5828), NPR2(4882), LARGE(9215), PEX5(5830), TBX15(6913), ATR(545), SALL4(57167), NSD1(64324), ERCC6(2074), FLNA(2316), GLI3(2737), FLNB(2317), ESCO2(157570), NOG(9241), HRAS(3265), MATN3(4148), CRLF1(9244), PEX10(5192), PEX14(5195), PEX13(5194), EMD(2010), PEX1(5189), B3GALTL(145173), DDR2(4921), GJB2(2706), GJA1(2697), CHRNG(1146), POR(5447), SIL1(64374), RECQL4(9401), CPT2(1376), ATP7A(538), CD96(10225), COMP(1311), LMNA(4000), RAPSN(5913), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), MMP13(4322), LMX1B(4010), SLC26A2(1836), PTPN11(5781), RMRP(6023), COL6A1(1291), SOS1(6654), HOXA11(3207), COL6A2(1292), COL6A3(1293), GPC6(10082), COL2A1(1280), WNT7A(7476), PEX26(55670), VPS13B(157680), CLCF1(23529), PEX3(8504), SUMF1(285362), NIPBL(25836), TFAP2A(7020), SHOX(6473), LIFR(3977), DOK7(285489), TPM2(7169), CHST3(9469)]
ABNORMALITY OF THE ENDOCARDIUM(HP:0004306)	[PRKAR1A(5573), SP110(3431), PDGFRA(5156)]
ABNORMALITY OF THE ENTERIC GANGLIA(HP:0004362)	[MKKS(8195), RET(5979), BBS5(129880), TRIM32(22954), ZEB2(9839), ARL6(84100), GATA1(2623), SALL4(57167), PHOX2B(8929), CEP290(80184), BBS12(166379), EDN3(1908), PAX3(5077), EDNRB(1910), DCR(1637), BDNF(627), RMRP(6023), SOX10(6663), DHCR7(1717), L1CAM(3897), BBS9(27241), GDNF(2668), TTC8(123016), BBS1(582), BBS2(583), BBS4(585), SLC6A8(6535), BBS10(79738), MKS1(54903), BBS7(55212), ASCL1(429), MBTPS2(51360), KIAA1279(26128)]
ABNORMALITY OF THE EPIDIDYMIS(HP:0009714)	[CCND1(595), DHH(50846), BTK(695), VHL(7428)]
ABNORMALITY OF THE EPIGLOTTIS(HP:0005483)	[GLI3(2737)]
ABNORMALITY OF THE EPIPHYSES(HP:0005930)	[PEX19(5824), RET(5979), TBX4(9496), NPR2(4882), ARSE(415), PEX5(5830), ATR(545), AGPS(8540), MGP(4256), VDR(7421), ERCC6(2074), FLNA(2316), THRB(7068), MATN3(4148), PAPSS2(9060), NSDHL(50814), IHH(3549), NEU1(4758), GLB1(2720), SALL1(6299), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), GALNS(2588), PEX7(5191), DDR2(4921), LBR(3930), GNPAT(8443), ACAN(176), BMPR1B(658), TRAPPC2(6399), HSPG2(3339), TRPS1(7227), WHCR(7467), COMP(1311), WHSC1(7468), GGCX(2677), ERCC8(1161), COL9A3(1299), COL9A2(1298), EVC2(132884), FGFR3(2261), GDF5(8200), COL9A1(1297), MMP13(4322), COL11A2(1302), COL11A1(1301), CYP2R1(120227), SLC26A2(1836), RMRP(6023), CYP27B1(1594), SBDS(51119), DYM(54808), COL2A1(1280), EVC(2121), PEX26(55670), SMARCAL1(50485), ADAMTSL2(9719), CLCN5(1184), PCNT(5116), WISP3(8838), PEX3(8504), SUMF1(285362), EIF2AK3(9451), RUNX2(860), EBP(10682), SLC34A3(142680), GNPTG(84572)]
ABNORMALITY OF THE EPIPHYSES OF THE 2ND FINGER(HP:0006263)	[GDF5(8200), BMPR1B(658)]
ABNORMALITY OF THE EPIPHYSES OF THE 3RD FINGER(HP:0009320)	[GDF5(8200)]
ABNORMALITY OF THE EPIPHYSES OF THE 5TH FINGER(HP:0009152)	[GDF5(8200), BMPR1B(658)]
ABNORMALITY OF THE EPIPHYSES OF THE DISTAL PHALANGES OF THE HAND(HP:0010243)	[TRPS1(7227)]
ABNORMALITY OF THE EPIPHYSES OF THE HAND(HP:0005924)	[TRPS1(7227), WHCR(7467), SALL1(6299), NPR2(4882), WHSC1(7468), PCNT(5116), ATR(545), ERCC8(1161), FGFR3(2261), EVC2(132884), MGP(4256), GDF5(8200), ERCC6(2074), FLNA(2316), EIF2AK3(9451), RUNX2(860), RMRP(6023), DYM(54808), COL2A1(1280), IHH(3549), EVC(2121), BMPR1B(658)]
ABNORMALITY OF THE EPIPHYSES OF THE MIDDLE PHALANGES OF THE HAND(HP:0010244)	[TRPS1(7227), GDF5(8200), BMPR1B(658)]
ABNORMALITY OF THE EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0005920)	[TRPS1(7227), NPR2(4882), ATR(545), ERCC8(1161), FGFR3(2261), EVC2(132884), MGP(4256), GDF5(8200), ERCC6(2074), FLNA(2316), EIF2AK3(9451), RUNX2(860), RMRP(6023), DYM(54808), COL2A1(1280), IHH(3549), EVC(2121), BMPR1B(658)]
ABNORMALITY OF THE EPIPHYSES OF THE PROXIMAL PHALANGES OF THE HAND(HP:0010245)	[TRPS1(7227), GDF5(8200), IHH(3549)]
ABNORMALITY OF THE EPIPHYSES OF THE THUMB(HP:0009599)	[IHH(3549)]
ABNORMALITY OF THE EPIPHYSIS OF THE 1ST METACARPAL(HP:0010014)	[IHH(3549)]
ABNORMALITY OF THE EPIPHYSIS OF THE FEMORAL HEAD(HP:0010574)	[SMARCAL1(50485), TRAPPC2(6399), RET(5979), TBX4(9496), TRPS1(7227), ADAMTSL2(9719), PCNT(5116), WISP3(8838), COL11A2(1302), SLC26A2(1836), SBDS(51119), MATN3(4148), DYM(54808), GNPTG(84572), ACAN(176), COL2A1(1280), IHH(3549)]
ABNORMALITY OF THE EPIPHYSIS OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009500)	[GDF5(8200), BMPR1B(658)]
ABNORMALITY OF THE EPIPHYSIS OF THE MIDDLE PHALANX OF THE 3RD FINGER(HP:0009334)	[GDF5(8200)]
ABNORMALITY OF THE EPIPHYSIS OF THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0004224)	[GDF5(8200), BMPR1B(658)]
ABNORMALITY OF THE EPIPHYSIS OF THE PROXIMAL PHALANX OF THE 2ND FINGER(HP:0009501)	[GDF5(8200)]
ABNORMALITY OF THE EPIPHYSIS OF THE PROXIMAL PHALANX OF THE 3RD FINGER(HP:0009333)	[GDF5(8200)]
ABNORMALITY OF THE ESOPHAGUS(HP:0002031)	[FBN1(2200), PRNP(5621), MYCN(4613), CHAT(1103), DMPK(1760), ATRX(546), DDC(1644), ATXN8(724066), SETX(23064), MAPT(4137), SPG7(6687), BRAF(673), CTNS(1497), MAP2K1(5604), ATXN7(6314), MAP2K2(5605), ITGB4(3691), ATXN8OS(6315), IKBKAP(8518), MID1(4281), NPHS1(4868), SOX2(6657), ATXN3(4287), NPC2(10577), MAPK10(5602), MYH8(4626), NPC1(4864), ALS2(57679), MATR3(9782), ATXN1(6310), ATXN2(6311), COLQ(8292), CHRNA1(1134), SALL1(6299), VPS13A(23230), SPG11(80208), PKHD1(5314), TSPYL1(7259), DKC1(1736), NUP62(23636), GJB1(2705), ACOX1(51), SLC9A6(10479), CACNA1A(773), ARX(170302), MPZ(4359), CHRNE(1145), CHRND(1144), PRKCG(5582), ACTA1(58), ATP7B(540), CHRNB1(1140), ITGA6(3655), ACTB(60), ATP1A3(478), WHCR(7467), WFS1(7466), WHSC1(7468), RAPSN(5913), NHP2(55651), FGFR2(2263), MECP2(4204), POLG(5428), MUSK(4593), PDP1(54704), PSAP(5660), AAAS(8086), RMRP(6023), PSEN1(5663), DHCR7(1717), ATXN10(25814), COL7A1(1294), NEB(4703), NOP10(55505), HPRT1(3251), TBP(6908), KRAS(3845), TIMM8A(1678), SEMA3E(9723), NIPBL(25836), TFAP2A(7020), PABPN1(8106), LIFR(3977), WNK1(65125), LIPA(3988), PANK2(80025), HOXD13(3239), GBA(2629), GBE1(2632), MCEE(84693), PNKD(25953), AR(367), TPM3(7170), CHD7(55636)]
ABNORMALITY OF THE EXTRAOCULAR MUSCLES(HP:0008049)	[TUBB3(10381), KIF21A(55605), PHOX2A(401)]
ABNORMALITY OF THE EXTREMITIES(HP:0002813)	[FBN1(2200), FBN2(2201), FKRP(79147), SACS(26278), CCBE1(147372), FBLN1(2192), HSD17B4(3295), H19(283120), DPM1(8813), SLC16A2(6567), ABCA1(19), HRAS(3265), FANCD2(2177), FANCC(2176), PPIB(5479), MATR3(9782), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), NOD2(64127), LYST(1130), HSPB1(3315), B3GALTL(145173), SLC6A8(6535), MPZ(4359), CHRNG(1146), CHRND(1144), POR(5447), ACTB(60), SNRPN(6638), UPF3B(65109), FGFR1(2260), FGFR3(2261), FGFR2(2263), CDKN1B(1027), BBS12(166379), POLG(5428), FGF14(2259), FGF10(2255), SOS1(6654), HSPB8(26353), HOXA11(3207), CECR(1055), FGD1(2245), HOXA13(3209), ACVRL1(94), ACVR1(90), HPRT1(3251), HPGD(3248), SMCR(6600), SFTPA2(729238), WNK1(65125), TRPV4(59341), HOXD13(3239), HOXD10(3236), CUL7(9820), CTSC(1075), GNPTG(84572), PMP22(5376), SMS(6611), ABCA12(26154), TRIM32(22954), SFTPB(6439), CCT5(22948), ERCC4(2072), PRPS1(5631), SGCB(6443), SGCA(6442), ERCC6(2074), SGCG(6445), KIAA0196(9897), MTM1(4534), MAP2K1(5604), MAP2K2(5605), SPG11(80208), MTMR2(8898), FGD4(121512), PRKAR1A(5573), MIPOL1(145282), COL1A2(1278), ACAN(176), KIAA1279(26128), COL1A1(1277), JAG1(182), GJB6(10804), EXT2(2132), WHCR(7467), WFS1(7466), WHSC1(7468), EXT1(2131), ERCC8(1161), CEP290(80184), EYA1(2138), MED12(9968), WNT10B(7480), HGD(3081), WNT3(7473), GDAP1(54332), WNT7A(7476), EVC(2121), PHGDH(26227), SMARCAL1(50485), FRAS1(80144), CLCN5(1184), MFN2(9927), FANCA(2175), WISP3(8838), SHOX(6473), ALDH3A2(224), ALPL(249), LEPRE1(64175), VCP(7415), NSD1(64324), LMBR1(64327), VDR(7421), FERMT1(55612), ESCO2(157570), ALX3(257), MATN3(4148), PAPSS2(9060), GNE(10020), IHH(3549), SC5DL(6309), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), AIP(9049), PEX1(5189), PEX7(5191), UROS(7390), PFKM(5213), SLC17A5(26503), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), MAN2B1(4125), TRAPPC2(6399), COMP(1311), COL17A1(1308), COL9A3(1299), COL9A2(1298), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), COL5A2(1290), COL6A1(1291), COL5A1(1289), COL7A1(1294), IGF1(3479), COL6A2(1292), COL6A3(1293), GPC6(10082), IGF1R(3480), COL2A1(1280), COL3A1(1281), MEN1(4221), PQBP1(10084), TTC8(123016), PEX26(55670), BSCL2(26580), VPS13B(157680), PANK2(80025), IGHMBP2(3508), TYROBP(7305), AR(367), CHD7(55636), ARSB(411), PLOD1(5351), ARSE(415), LARGE(9215), TWIST1(7291), RPS6KA3(6197), MGP(4256), PLP1(5354), FLNA(2316), PLOD2(5352), CTNS(1497), FLNB(2317), IDS(3423), TTN(7273), NKX2-5(1482), FMR1(2332), ARX(170302), CTSK(1513), MGAT2(4247), CTDP1(9150), HSPG2(3339), MBD5(55777), TRPS1(7227), CD96(10225), RYR1(6261), MMP13(4322), CRYAB(1410), PITX1(5307), FXN(2395), ALG3(10195), PHEX(5251), HYLS1(219844), PHYH(5264), MMP2(4313), TPM2(7169), TPM3(7170), SH3TC2(79628), RET(5979), NPR2(4882), ATRX(546), ATR(545), TGFBR1(7046), GAN(8139), DCTN1(1639), TGFB1(7040), GLI3(2737), DCR(1637), B2M(567), NOG(9241), CRLF1(9244), ADAMTS10(81794), RPGRIP1L(23322), EMG1(10436), GLB1(2720), SBF2(81846), GLA(2717), GPC3(2719), NTRK1(4914), KIF5A(3798), CRTAP(10491), DYSF(8291), SEC23A(10484), ROR2(4920), GJB1(2705), DDR2(4921), GJB2(2706), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), GHR(2690), ATP7A(538), KCNJ11(3767), MKKS(8195), FBXO7(25793), NDRG1(10397), RAPSN(5913), GDF5(8200), OCRL(4952), FGF23(8074), CYP27B1(1594), SBDS(51119), KCNJ2(3759), GNAS(2778), TRIP11(9321), BBS1(582), KAL1(3730), TNFRSF11B(4982), BBS2(583), TNNI2(7136), BBS4(585), TNNT3(7140), KCNA1(3736), NIPBL(25836), BBS10(79738), ZFPM2(23414), KDM5C(8242), FAM123B(139285), DOK7(285489), ATL1(51062), TBX15(6913), ARL6(84100), GATA1(2623), TBX3(6926), BRAF(673), GARS(2617), B4GALT7(11285), ITGB4(3691), HNF1B(6928), ALS2(57679), TREX1(11277), DNM2(1785), BMP4(652), BCOR(54880), GALNS(2588), IRF6(3664), BLM(641), PRX(57716), MKS1(54903), GNPAT(8443), RECQL4(9401), MRPS16(51021), DMD(1756), BMPR1A(657), BMPR1B(658), ZFYVE26(23503), EHMT1(79813), INSR(3643), GGCX(2677), PAX3(5077), ZMPSTE24(10269), INS(3630), DHCR24(1718), RMRP(6023), DHCR7(1717), GDF1(2657), DYM(54808), SH3PXD2B(285590), GCK(2645), PCNT(5116), CLCF1(23529), SHFM1(7979), SOST(50964), CHST14(113189), TF(7018), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), DES(1674), ATP6V0A2(23545), GBA(2629), CHST3(9469), APTX(54840), MYCN(4613), TBX4(9496), MYOT(9499), GUSB(2990), BBS5(129880), SLURP1(57152), SALL4(57167), MYH3(4621), SETX(23064), AGPS(8540), CAPN3(825), MYH7(4625), MYH8(4626), STK11(6794), RAB7A(7879), AURKC(6795), PTCH1(5727), SMAD4(4089), CANT1(124583), NIPA1(123606), YARS(8565), KIF1B(23095), LRP5(4041), PTEN(5728), ABCC8(6833), CACNA1C(775), LITAF(9516), RAI1(10743), RAB23(51715), PTH1R(5745), TCAP(8557), ADAMTS2(9509), LMNA(4000), EVC2(132884), CYP2R1(120227), PRPS2(5634), LMX1B(4010), SLC26A2(1836), SPG20(23111), CUL4B(8450), NDN(4692), PHF6(84295), DSP(1832), TREM2(54209), CBS(875), ANKH(56172), TBCE(6905), TBX5(6910), CAV3(859), TBX1(6899), PORCN(64840), PEX3(8504), LIFR(3977), RUNX2(860), EBP(10682), OFD1(8481), BBS7(55212), ALMS1(7840), MOGS(7841), DPAGT1(1798), HSD17B10(3028), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), PEX5(5830), NEFL(4747), SPG7(6687), SOX10(6663), SOX9(6662), NF1(4763), ENG(2022), NSDHL(50814), SLC35D1(23169), ANO5(203859), LAMB3(3914), PLEKHG5(57449), LAMB1(3912), LAMC2(3918), EMD(2010), LAMA3(3909), LBR(3930), LAMP2(3920), TNFSF11(8600), NHS(4810), NGF(4803), CDH3(1001), PTPN11(5781), EGR2(1959), L1CAM(3897), FREM2(341640), ADAMTSL2(9719), TP63(8626), KRAS(3845), EFNB1(1947), SUMF1(285362), SEMA3E(9723), SSTR5(6755), SLC34A3(142680), AGPAT2(10555), PVRL1(5818), SPTLC1(10558)]
ABNORMALITY OF THE EYEBROW(HP:0000534)	[EP300(2033), RET(5979), SPINK5(11005), RPS6KA3(6197), BRAF(673), EDARADD(128178), EDNRB(1910), MAP2K1(5604), SGSH(6448), EDA(1896), MAP2K2(5605), SOX10(6663), MITF(4286), DOLK(22845), GNE(10020), GNPTAB(79158), SAT1(6303), BCOR(54880), SOX18(54345), SLC9A6(10479), GJA1(2697), ARX(170302), CREBBP(1387), KIAA1279(26128), NAGLU(4669), WNT10A(80326), MAN2B1(4125), TRPS1(7227), GJB6(10804), WHCR(7467), EHMT1(79813), WHSC1(7468), FGFR1(2260), INPP5E(56623), KRT17(3872), PAX3(5077), CDH3(1001), RMRP(6023), GNS(2799), DSP(1832), AHI1(54806), FREM2(341640), FUCA1(2517), EDAR(10913), HR(55806), KRT6B(3854), FRAS1(80144), ST14(6768), HGSNAT(138050), VPS13B(157680), TP63(8626), KRAS(3845), TFAP2B(7021), NIPBL(25836), EBP(10682), PVRL1(5818)]
ABNORMALITY OF THE EYELASHES(HP:0000499)	[HSPG2(3339), GJB6(10804), EP300(2033), CLDN1(9076), NHP2(55651), BRAF(673), PAX3(5077), ZMPSTE24(10269), EDARADD(128178), EDNRB(1910), MAP2K1(5604), EDA(1896), CDH3(1001), MAP2K2(5605), RMRP(6023), SOX10(6663), DSP(1832), MITF(4286), DOLK(22845), FREM2(341640), EDAR(10913), HR(55806), NOP10(55505), TCOF1(6949), FRAS1(80144), FOXC2(2303), ST14(6768), SAT1(6303), SOX18(54345), TP63(8626), DKC1(1736), KRAS(3845), NIPBL(25836), GJB2(2706), EBP(10682), GJA1(2697), MOGS(7841), CREBBP(1387), PUS1(80324), PVRL1(5818)]
ABNORMALITY OF THE EYELID(HP:0000492)	[FBN1(2200), DDB2(1643), RET(5979), ATRX(546), ATR(545), CCBE1(147372), HSD17B4(3295), DPM1(8813), EDARADD(128178), GLI3(2737), DCR(1637), ABCA1(19), HRAS(3265), DOLK(22845), GNPTAB(79158), CHRNA1(1134), GPC3(2719), B3GALTL(145173), ROR2(4920), GJB2(2706), MCPH1(79648), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRND(1144), PUS1(80324), SNRPN(6638), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), FGFR2(2263), POLH(5429), BDNF(627), FGF10(2255), SOS1(6654), CYP27A1(1593), CECR(1055), FGD1(2245), KCNJ2(3759), EDAR(10913), ABHD5(51099), FOXC2(2303), TNNI2(7136), TNNT3(7140), NIPBL(25836), SNAP29(9342), KDM5C(8242), FAM123B(139285), DOK7(285489), SMPD1(6609), ERCC2(2068), TBX15(6913), PHOX2B(8929), GATA1(2623), PRPS1(5631), STRA6(64220), ERCC6(2074), BRAF(673), MAP2K1(5604), ITGB4(3691), MAP2K2(5605), BUB1B(701), MAPK10(5602), DNMT3B(1789), TCOF1(6949), BCOR(54880), SOX18(54345), IRF6(3664), DKC1(1736), PARK7(11315), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), RECQL4(9401), XPC(7508), PDHX(8050), ZNF469(84627), KIAA1279(26128), COL1A1(1277), XPA(7507), ITGA6(3655), GJB6(10804), WHCR(7467), EHMT1(79813), SEPT9(10801), WHSC1(7468), MVK(4598), PAX3(5077), ZMPSTE24(10269), MED12(9968), DHCR24(1718), RMRP(6023), DHCR7(1717), DGCR(1714), RAX(30062), AHI1(54806), GDNF(2668), NOP10(55505), FRAS1(80144), PCNT(5116), CHST14(113189), TFAP2A(7020), ALDOA(226), EIF2AK3(9451), ATP6V0A2(23545), MYCN(4613), CLDN1(9076), SALL4(57167), MYH3(4621), NSD1(64324), MAPT(4137), EDN3(1908), EDNRB(1910), EDA(1896), ESCO2(157570), CP(1356), ALX3(257), GNE(10020), SC5DL(6309), PEX10(5192), SAT1(6303), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), PTEN(5728), AP3B1(8546), SLC17A5(26503), CREBBP(1387), RAB23(51715), MAN2B1(4125), TOR1A(1861), ADAMTS2(9509), APOB(338), APOA2(336), NBN(4683), INPP5E(56623), NHP2(55651), COL11A1(1301), PRPS2(5634), COL5A2(1290), COL5A1(1289), LPL(4023), DSP(1832), PHF6(84295), NDN(4692), IGBP1(3476), GPC6(10082), PEX26(55670), PQBP1(10084), FTL(2512), VPS13B(157680), TBX1(6899), PEX3(8504), LIFR(3977), EBP(10682), LIPA(3988), PANK2(80025), OFD1(8481), MOGS(7841), CHD7(55636), PEX19(5824), EP300(2033), PLOD1(5351), ABCD3(5825), PEX2(5828), LDLR(3949), PEX5(5830), RPS6KA3(6197), FLNA(2316), SOX10(6663), MID1(4281), SOX9(6662), MITF(4286), TTPA(7274), ASCL1(429), HSPG2(3339), CD96(10225), LMBRD1(55788), CDH3(1001), PTPN11(5781), FREM2(341640), HR(55806), ADAMTSL2(9719), ST14(6768), ALG3(10195), TP63(8626), KRAS(3845), EFNB1(1947), SEMA3E(9723), TPM2(7169), PVRL1(5818)]
ABNORMALITY OF THE EYES(HP:0000478)	[FBN1(2200), ADAMTSL4(54507), FKRP(79147), FBN2(2201), EFEMP1(2202), CHAT(1103), TINF2(26277), MMADHC(27249), SPINK5(11005), SACS(26278), CCBE1(147372), HSD17B4(3295), H19(283120), DPM1(8813), EDARADD(128178), DNAJC19(131118), SLC16A2(6567), HSD11B2(3291), KCNQ1OT1(10984), ABCA1(19), HRAS(3265), HESX1(8820), SNAI2(6591), COQ2(27235), CDH23(64072), FANCD2(2177), DOLK(22845), CTSA(5476), ABCA4(24), FANCC(2176), PPIB(5479), FANCE(2178), UBR1(197131), GNPTAB(79158), BBS9(27241), CHRNA1(1134), ACADS(35), NOD2(64127), LYST(1130), ACADSB(36), B3GALTL(145173), CHML(1122), SLC6A8(6535), CHM(1121), ACOX1(51), FKTN(2218), HSF4(3299), MPZ(4359), C20orf7(79133), CHRNG(1146), MPV17(4358), CHRNE(1145), CHRND(1144), POR(5447), ACTA1(58), PUS1(80324), WNT10A(80326), CHRNB1(1140), ACTB(60), SNRPN(6638), FH(2271), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), CDKN1C(1028), POLG(5428), BBS12(166379), POLH(5429), FGF14(2259), FGF10(2255), SOS1(6654), CECR(1055), POLA1(5422), FGD1(2245), ACY1(95), ACVRL1(94), EDAR(10913), C8orf38(137682), FOXC2(2303), CNBP(7555), FOXE3(2301), FOXC1(2296), NDUFA11(126328), HPS1(3257), WNK1(65125), TRPV4(59341), FASTKD2(22868), CUL7(9820), GNPTG(84572), TUBB2B(347733), SMPD1(6609), ERBB3(2065), PRNP(5621), ABCA12(26154), ERCC2(2068), ERCC3(2071), TRIM32(22954), PHOX2B(8929), ERCC4(2072), ROBO3(64221), PRPS1(5631), STRA6(64220), ERCC6(2074), PROC(5624), MTM1(4534), MAP2K1(5604), SGSH(6448), MAP2K2(5605), TMEM67(91147), SH3BP2(6452), BLOC1S3(388552), ZIC1(7545), MAPK10(5602), FAM126A(84668), CLN8(2055), MFRP(83552), PRPF31(26121), AGA(175), MFSD8(256471), SPG11(80208), SOX18(54345), CNGA3(1261), CNGB1(1258), ETFDH(2110), ETFB(2109), ETFA(2108), PRKAR1A(5573), AGXT(189), PRKCG(5582), AGL(178), COL1A2(1278), RPIA(22934), ZNF469(84627), XPC(7508), COL1A1(1277), OPA3(80207), KIAA1279(26128), JAG1(182), RAB3GAP1(22930), XPA(7507), GJB6(10804), WHCR(7467), WFS1(7466), SEPT9(10801), WHSC1(7468), SIX3(6496), ERCC8(1161), ST3GAL5(8869), MVK(4598), CEP290(80184), MUSK(4593), EYA1(2138), EIF2B2(8892), MED12(9968), EIF2B5(8893), HGD(3081), PPT1(5538), TRIM37(4591), SLC2A1(6513), EIF2B4(8890), WRN(7486), EIF2B3(8891), BEAN(146227), HEXA(3073), WNT3(7473), HEXB(3074), ABCD1(215), CFH(3075), EVC(2121), PHGDH(26227), PCDH15(65217), NOP10(55505), SMARCAL1(50485), FRAS1(80144), PPP2R2B(5521), SHH(6469), FRMD7(90167), BEST1(7439), MFN2(9927), PROM1(8842), VLDLR(7436), CLCNKB(1188), FANCA(2175), TSEN54(283989), ALDOA(226), ALDH3A2(224), VHL(7428), CLN5(1203), TPP1(1200), CLN3(1201), ALPL(249), MTTP(4547), LEPRE1(64175), BIN1(274), PGK1(5230), SCN9A(6335), CLDN1(9076), SCN1A(6323), HPS5(11234), NSD1(64324), ANCR(282), MAPT(4137), SLC6A19(340024), ATXN7(6314), USH2A(7399), ESCO2(157570), ATXN8OS(6315), CP(1356), SLC4A11(83959), ALX3(257), COX15(1355), KIF21A(55605), GNE(10020), ATXN1(6310), ATXN2(6311), CLRN1(7401), SC5DL(6309), UQCRB(7381), UPK3A(7380), SALL1(6299), CRX(1406), TMEM216(51259), PEX10(5192), PEX14(5195), SAT1(6303), PEX13(5194), PEX1(5189), PEX7(5191), UROS(7390), NUP62(23636), PEPD(5184), SAG(6295), NR2E3(10002), C10orf2(56652), SCO2(9997), SLC25A4(291), SLC17A5(26503), CREBBP(1387), SIL1(64374), CNNM4(26504), SLC12A6(9990), CPT2(1376), MAN2B1(4125), MANBA(4126), TRAPPC2(6399), SLC6A20(54716), PDHA1(5160), APOB(338), APOA2(336), SDHD(6392), CNGB3(54714), SDHB(6390), NHP2(55651), SDHA(6389), INPP5E(56623), APOE(348), COL8A2(1296), MECP2(4204), COL11A2(1302), PDE6B(5158), PDP1(54704), COL11A1(1301), APOC2(344), AIRE(326), COL5A2(1290), COL4A6(1288), APC(324), COL5A1(1289), PIKFYVE(200576), COL7A1(1294), IGF1(3479), IGBP1(3476), COL4A1(1282), GPC6(10082), APOA1(335), USH1C(10083), PDSS1(23590), COL2A1(1280), FUCA1(2517), COL3A1(1281), UBE3A(7337), COL4A5(1287), PQBP1(10084), PEX26(55670), TTC8(123016), FTL(2512), SLC37A4(2542), CHST6(4166), POMGNT1(55624), VPS13B(157680), UBA1(7317), ABCC6(368), COX6B1(1340), G6PC(2538), TYR(7299), PANK2(80025), TTBK2(146057), TYRP1(7306), CHD7(55636), SLC25A15(10166), ARSA(410), PLOD1(5351), ARSB(411), ARSE(415), TWIST1(7291), LARGE(9215), STS(412), RPS6KA3(6197), TULP1(7287), PHOX2A(401), PLP1(5354), FLNA(2316), FLNB(2317), CTNS(1497), IDS(3423), MID1(4281), TTR(7276), ATXN3(4287), TTPA(7274), MITF(4286), TTN(7273), AASS(10157), PMM2(5373), NKX2-5(1482), OPTN(10133), ASPA(443), OSMR(9180), TSPYL1(7259), KERA(11081), TSHR(7253), TSC1(7248), TSC2(7249), L2HGDH(79944), CTSD(1509), ASAH1(427), ARX(170302), ASCL1(429), MBTPS2(51360), PLG(5340), PLEC(5339), CTDP1(9150), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), ATP1A2(477), ATM(472), ATIC(471), HSPD1(3329), LMBRD1(55788), RS1(6247), CRYBA1(1411), CRYAB(1410), PRPF3(9129), FXN(2395), MOCS2(4338), PITX3(5309), MOCS1(4337), CRYGD(1421), MLPH(79083), HR(55806), PITX2(5308), ALG3(10195), VCAN(1462), HYLS1(219844), PHYH(5264), MMP2(4313), HPS4(89781), TPM2(7169), TH(7054), SH3TC2(79628), AVP(551), RET(5979), DDB2(1643), MERTK(10461), DCX(1641), AUH(549), ATRX(546), TGIF1(7050), DDC(1644), ATXN8(724066), ATR(545), TGFBR1(7046), GAN(8139), CLN6(54982), TGFBI(7045), TGFB1(7040), DCR(1637), GLI3(2737), PRPH2(5961), NOG(9241), THRB(7068), GCM2(9247), NPHP1(4867), ADAMTS10(81794), NPC1(4864), RPGRIP1L(23322), RDH5(5959), SPATA7(55812), RCVRN(5957), GLB1(2720), OPN1LW(5956), SBF2(81846), COLQ(8292), GLA(2717), RHO(6010), GPC3(2719), GRK1(6011), NTRK1(4914), CRTAP(10491), SEC23A(10484), TIMP3(7078), GK(2710), ROR2(4920), DDR2(4921), MCPH1(79648), GJB2(2706), GTF2H5(404672), GJA8(2703), SLC9A6(10479), RAB3GAP2(25782), GJA1(2697), ATP7B(540), PROKR2(128674), DBH(1621), GHR(2690), SAR1B(51128), NDUFS7(374291), NPHP4(261734), KCNJ11(3767), OPN1SW(611), MKKS(8195), OCA2(4948), GPR56(9289), CYP4V2(285440), RAPSN(5913), OCRL(4952), BCS1L(617), FGF23(8074), KCNJ13(3769), COL18A1(80781), BDNF(627), AAAS(8086), KCNC3(3748), GPR143(4935), ATXN10(25814), GNS(2799), UROC1(131669), CYP27A1(1593), TUBB3(10381), RAG2(5897), TNFRSF1A(7132), RAG1(5896), KCNJ2(3759), KCNJ1(3758), GPR98(84059), OAT(4942), DTNBP1(84062), OPA1(4976), ABHD5(51099), GNAS(2778), RBP4(5950), CYP1B1(1545), TNFRSF11B(4982), BBS1(582), OPHN1(4983), BBS2(583), TNNI2(7136), BBS4(585), NDUFAF4(29078), TNNT3(7140), NIPBL(25836), ATP13A2(23400), SIX6(4990), PABPN1(8106), GM2A(2760), BBS10(79738), CCND1(595), ZFPM2(23414), KDM5C(8242), SNAP29(9342), FAM123B(139285), DOK7(285489), RB1(5925), CRB1(23418), PLA2G6(8398), BTD(686), SLC25A22(79751), DMPK(1760), RPGR(6103), RP2(6102), RP1(6101), TBX15(6913), RP9(6100), ZIC4(84107), GATA1(2623), ARL6(84100), TBX3(6926), BRAF(673), B4GALT7(11285), ITGB4(3691), BUB1B(701), GALT(2592), KL(9365), ALS2(57679), TREX1(11277), BTK(695), DNM2(1785), ROM1(6094), TCIRG1(10312), DNMT3B(1789), TCOF1(6949), PAH(5053), GALC(2581), BMP4(652), ZFHX4(79776), BCOR(54880), DLAT(1737), GALNS(2588), DKC1(1736), IRF6(3664), GALNT3(2591), PARK7(11315), DLD(1738), GALK1(2584), BFSP2(8419), FOXL2(668), MKS1(54903), GNPAT(8443), RECQL4(9401), RPE65(6121), PDHX(8050), ETHE1(23474), HPS6(79803), ITGA6(3655), POMT2(29954), ZFYVE26(23503), PAX6(5080), INSR(3643), EHMT1(79813), TNFRSF13B(23495), FZD4(8322), ZMPSTE24(10269), PAX3(5077), PAX2(5076), INS(3630), DHCR24(1718), CA4(762), RMRP(6023), GPHN(10243), CA2(760), DGUOK(1716), GDF1(2657), DHCR7(1717), DGCR(1714), RAX(30062), AHI1(54806), FAM20C(56975), RLBP1(6017), SAMD9(54809), SH3PXD2B(285590), TEAD1(7003), CYB5R3(1727), EPM2A(7957), GDNF(2668), ITM2B(9445), COQ9(57017), IMPDH1(3614), ALG1(56052), HGSNAT(138050), GCK(2645), PCNT(5116), SOST(50964), CHST14(113189), TIMM8A(1678), TFAP2B(7021), TFAP2A(7020), OPN1MW(2652), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), APTX(54840), CABC1(56997), PITPNM3(83394), MYCN(4613), CLDN19(149461), GUSB(2990), BBS5(129880), TACSTD2(4070), SETX(23064), MYH3(4621), SALL4(57167), GJC2(57165), EDNRA(1909), EDN3(1908), MYF6(4618), GUCA1A(2978), EDNRB(1910), EDA(1896), IKBKG(8517), MYH11(4629), IKBKAP(8518), CDKL5(6792), GUCY2D(3000), USH1G(124590), PTCH1(5727), MYH9(4627), AURKC(6795), TYMP(1890), ELOVL4(6785), CANT1(124583), MYO7A(4647), PTGS1(5742), KIF1B(23095), PTH(5741), LRP2(4036), MYOC(4653), LRP5(4041), PTEN(5728), SURF1(6834), MCOLN1(57192), ABCC8(6833), VSX1(30813), CACNA1A(773), AP3B1(8546), ALDH5A1(7915), NAGA(4668), SUOX(6821), RAB23(51715), NAGLU(4669), PTH1R(5745), CACNA1F(778), ICOS(29851), DYT3(1863), ADAMTS2(9509), TOR1A(1861), TAF1(6872), LMNB1(4001), HCCS(3052), LMNA(4000), C1QTNF5(114902), KRIT1(889), NYX(60506), ALG6(29929), NBN(4683), NHLRC1(378884), LMX1B(4010), PRPS2(5634), HTT(3064), PDSS2(57107), LPL(4023), NDN(4692), PHF6(84295), DSP(1832), NDP(4693), NDUFA1(4694), NDUFA2(4695), CBS(875), HCRT(3060), NEB(4703), TBCE(6905), TBP(6908), HPS3(84343), TBX1(6899), ATCAY(85300), PORCN(64840), PEX3(8504), NDUFS1(4719), LIFR(3977), RUNX2(860), EBP(10682), TAP1(6890), NDUFS3(4722), TAP2(6891), NDUFV1(4723), LIPA(3988), NDUFS2(4720), HADHB(3032), OFD1(8481), CLDN16(10686), NDUFS6(4726), BBS7(55212), TAPBP(6892), NDUFS4(4724), ALMS1(7840), MOGS(7841), DPAGT1(1798), AGRN(375790), UBIAD1(29914), NDUFS8(4728), CASR(846), HADHA(3030), PRSS12(8492), HSD17B10(3028), PEX19(5824), ABCD3(5825), EP300(2033), SLC4A4(8671), PEX2(5828), LDLR(3949), PEX5(5830), SPG7(6687), NDUFAF2(91942), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), NF1(4763), ENG(2022), UQCRQ(27089), NEU1(4758), POMT1(10585), SLC36A2(153201), LAMB2(3913), NDUFAF3(25915), PRPF8(10594), IQCB1(9657), NF2(4771), SPTBN2(6712), LAMA3(3909), LCAT(3931), LBR(3930), LAMP2(3920), TNFSF11(8600), NHS(4810), GRM6(2916), DNAI1(27019), KRT17(3872), CDH3(1001), PTPN11(5781), L1CAM(3897), NME1(4830), GSN(2934), GSS(2937), EIF2B1(1967), FREM2(341640), KRT6B(3854), ADAMTSL2(9719), ST14(6768), STAT3(6774), KRT3(3850), KRT4(3851), NLRP3(114548), TP63(8626), KRAS(3845), SEMA3E(9723), MMACHC(25974), EFNB1(1947), KRT14(3861), KRT13(3860), KRT12(3859), PVRL1(5818), NOTCH3(4854)]
ABNORMALITY OF THE FACE(HP:0000271)	[FBN1(2200), FBN2(2201), FKRP(79147), HIBCH(26275), TINF2(26277), SPINK5(11005), CCBE1(147372), HSD17B4(3295), H19(283120), DPM1(8813), EDARADD(128178), SLC16A2(6567), SLC35C1(55343), KCNQ1OT1(10984), ABCA1(19), HRAS(3265), FANCD2(2177), DOLK(22845), CTSA(5476), FANCC(2176), PPIB(5479), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), ACADS(35), PPARG(5468), LYST(1130), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), ACTA1(58), PUS1(80324), WNT10A(80326), TNFRSF11A(8792), CHRNB1(1140), ACTB(60), SNRPN(6638), UPF3B(65109), FH(2271), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), POLG(5428), CDKN1C(1028), POLH(5429), FGF14(2259), FAM83H(286077), FGF10(2255), SOS1(6654), FGF3(2248), CECR(1055), FGD1(2245), ACY1(95), ACVRL1(94), ASPM(259266), EDAR(10913), GDF6(392255), ACVR1(90), SMN1(6606), FOXC2(2303), FOXE3(2301), SMCR(6600), HPS1(3257), TRPV4(59341), WNK1(65125), HOXD13(3239), CUL7(9820), CTSC(1075), GNPTG(84572), SMS(6611), SMPD1(6609), PRNP(5621), ERBB3(2065), ABCA12(26154), ERCC2(2068), TRIM32(22954), ERCC3(2071), PHOX2B(8929), ERCC4(2072), SGCB(6443), PRPS1(5631), STRA6(64220), ERCC6(2074), MTM1(4534), MAP2K1(5604), SGSH(6448), MAP2K2(5605), SH3BP2(6452), BLOC1S3(388552), MAPK10(5602), MFRP(83552), HOXA2(3199), AGA(175), SOX18(54345), MTMR2(8898), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), AGTR1(185), PRKAR1A(5573), MIPOL1(145282), AHCY(191), PRKCG(5582), AGL(178), COL1A2(1278), XPC(7508), ZNF469(84627), COL1A1(1277), KIAA1279(26128), JAG1(182), AGT(183), RAB3GAP1(22930), XPA(7507), MSX1(4487), GJB6(10804), WHCR(7467), SEPT9(10801), WHSC1(7468), SIX3(6496), ERCC8(1161), MVK(4598), CEP290(80184), MUSK(4593), EYA1(2138), MED12(9968), TRIM37(4591), WRN(7486), WNT3(7473), HEXB(3074), WNT7A(7476), EVC(2121), NOP10(55505), SMARCAL1(50485), FRAS1(80144), CLCN7(1186), SHH(6469), BEST1(7439), MFN2(9927), F11(2160), FANCA(2175), ALDOB(229), ALDOA(226), SHOX(6473), ALDH3A2(224), PPP1R3A(5506), VWF(7450), WAS(7454), GORAB(92344), ALPL(249), F10(2159), LEPRE1(64175), F5(2153), BIN1(274), SCN9A(6335), CLDN1(9076), NSD1(64324), ANCR(282), HPS5(11234), MAPT(4137), VDR(7421), MAT1A(4143), SLC6A19(340024), FERMT1(55612), ESCO2(157570), CP(1356), ALX3(257), AMELY(266), GNE(10020), AMELX(265), CLRN1(7401), SC5DL(6309), UPK3A(7380), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), SAT1(6303), RAB39B(116442), PEX13(5194), AIP(9049), PEX1(5189), PEX7(5191), UROS(7390), IL2RG(3561), PEPD(5184), CRH(1392), SLC25A4(291), SLC17A5(26503), CREBBP(1387), CNNM4(26504), SLC12A6(9990), CPT2(1376), MAN2B1(4125), MANBA(4126), UCHL1(7345), PDHA1(5160), COMP(1311), APOB(338), APOA2(336), COL17A1(1308), NHP2(55651), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), AIRE(326), COL5A2(1290), COL6A1(1291), APC(324), COL5A1(1289), COL7A1(1294), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), USH1C(10083), COL2A1(1280), IGF1R(3480), FUCA1(2517), MEN1(4221), COL3A1(1281), UBE3A(7337), FTL(2512), PQBP1(10084), TTC8(123016), PEX26(55670), BSCL2(26580), LMNB2(84823), SLC37A4(2542), POMGNT1(55624), UBB(7314), VPS13B(157680), UBA1(7317), SLC39A4(55630), ABCC6(368), G6PC(2538), PANK2(80025), GAA(2548), AR(367), CHD7(55636), PLOD1(5351), ARSB(411), FOXE1(2304), ARSE(415), TWIST1(7291), LARGE(9215), RPS6KA3(6197), MGP(4256), FLNA(2316), FLNB(2317), CTNS(1497), IDS(3423), MID1(4281), ATXN3(4287), TTPA(7274), MITF(4286), TTN(7273), PMM2(5373), NKX2-5(1482), FMR1(2332), LRPPRC(10128), PKHD1(5314), TSPYL1(7259), TSHB(7252), TSC1(7248), TSC2(7249), ENAM(10117), CTSD(1509), ARX(170302), ASCL1(429), MBTPS2(51360), PLG(5340), CTSK(1513), PLEC(5339), MGAT2(4247), CTDP1(9150), ATP1A3(478), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), ATIC(471), LMBRD1(55788), HR(55806), PITX2(5308), ALG3(10195), PHEX(5251), HYAL1(3373), DCLRE1C(64421), HYLS1(219844), PHYH(5264), ANTXR2(118429), MMP2(4313), ATP2A2(488), HPS4(89781), TPM2(7169), TPM3(7170), TH(7054), SH3TC2(79628), AVP(551), RET(5979), DDB2(1643), ATRX(546), NPR2(4882), TGIF1(7050), DDC(1644), ATR(545), TGFBR1(7046), DCTN1(1639), ACE(1636), REN(5972), TGFB1(7040), GLI3(2737), DCR(1637), SATB2(23314), NOG(9241), GLE1(2733), THRB(7068), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), EMG1(10436), GLB1(2720), TK2(7084), GPC3(2719), DYNC2H1(79659), NTRK1(4914), CRTAP(10491), SEC23A(10484), ROR2(4920), DDR2(4921), MCPH1(79648), GJB2(2706), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), GJA1(2697), ATP7B(540), PROKR2(128674), DBH(1621), GH1(2688), ATP7A(538), GHR(2690), KCNJ11(3767), GP1BA(2811), MKKS(8195), GP9(2815), GP1BB(2812), RAPSN(5913), OCRL(4952), FGF23(8074), BDNF(627), GNS(2799), CYP27B1(1594), CYP27A1(1593), RAG2(5897), RAG1(5896), KCNJ2(3759), KCNJ1(3758), DTNBP1(84062), ABHD5(51099), GNAS(2778), TRIP11(9321), TNFRSF11B(4982), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), ATP13A2(23400), SIX6(4990), PABPN1(8106), BBS10(79738), ZFPM2(23414), KDM5C(8242), SNAP29(9342), FAM123B(139285), DOK7(285489), RB1(5925), PLA2G6(8398), DMPK(1760), TBXAS1(6916), EFEMP2(30008), TBX15(6913), TBX21(30009), ARL6(84100), GATA1(2623), TBX3(6926), CC2D1A(54862), BRAF(673), B4GALT7(11285), ITGB3(3690), ITGB4(3691), ITGB2(3689), BUB1B(701), ALS2(57679), KL(9365), DNM2(1785), TCIRG1(10312), DNMT3B(1789), TCOF1(6949), TCN2(6948), BMP4(652), ITGA2B(3674), BCOR(54880), DLAT(1737), GALNS(2588), DKC1(1736), IRF6(3664), PARK7(11315), GALNT3(2591), BLM(641), FOXL2(668), MKS1(54903), DLX3(1747), GNPAT(8443), C20orf54(113278), RECQL4(9401), RPE65(6121), PDHX(8050), MRPS16(51021), HPS6(79803), ITGA6(3655), POMT2(29954), INSR(3643), EHMT1(79813), GGCX(2677), PAX3(5077), ZMPSTE24(10269), PAX2(5076), INS(3630), DHCR24(1718), RMRP(6023), CA2(760), GDF1(2657), DHCR7(1717), DGCR(1714), RAX(30062), AHI1(54806), FAM20C(56975), DYM(54808), SAMD9(54809), SH3PXD2B(285590), PAK3(5063), GDNF(2668), HGSNAT(138050), TEK(7010), ALG1(56052), GCK(2645), CLCF1(23529), PCNT(5116), TERC(7012), TERT(7015), SOST(50964), ROBLD3(28956), CHST14(113189), TF(7018), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), DES(1674), PCCB(5096), TBX22(50945), ATP6V0A2(23545), GBA(2629), CHST3(9469), PCCA(5095), MYCN(4613), TBX4(9496), P2RY12(64805), GUSB(2990), BBS5(129880), SLURP1(57152), SALL4(57167), MYH3(4621), GJC2(57165), EDN3(1908), EDNRB(1910), MYF6(4618), EDA(1896), IKBKG(8517), IKBKAP(8518), PDE11A(50940), CDKL5(6792), GUCY2D(3000), USH1G(124590), STK11(6794), MYH8(4626), MYH9(4627), PTCH1(5727), AURKC(6795), FOXP2(93986), CANT1(124583), SEPN1(57190), LRP2(4036), LRP5(4041), PTEN(5728), ABCC8(6833), VSX1(30813), AP3B1(8546), RAI1(10743), NAGA(4668), RAB23(51715), NAGLU(4669), PTH1R(5745), SUOX(6821), ADAMTS2(9509), TOR1A(1861), HCCS(3052), LMNA(4000), EVC2(132884), LOX(4015), NBN(4683), CYP2R1(120227), LMX1B(4010), PRPS2(5634), SLC26A2(1836), SPG20(23111), CUL4B(8450), LPL(4023), NDN(4692), PHF6(84295), DSP(1832), NDP(4693), DSPP(1834), NLGN4X(57502), CBS(875), RELN(5649), NEB(4703), ANKH(56172), TBCE(6905), TBP(6908), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), RUNX1(861), LIFR(3977), RUNX2(860), EBP(10682), TAP1(6890), TAP2(6891), LIPA(3988), OFD1(8481), BBS7(55212), TAPBP(6892), ALMS1(7840), MOGS(7841), DPAGT1(1798), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), CD40LG(959), PEX2(5828), LDLR(3949), PEX5(5830), KLK4(9622), SOX10(6663), SOX9(6662), SOX2(6657), NF1(4763), ENG(2022), SLC35D1(23169), NSDHL(50814), NEU1(4758), ANO5(203859), POMT1(10585), LAMB3(3914), ELN(2006), LAMC2(3918), VPS13A(23230), D2HGDH(728294), SPTBN2(6712), LAMA3(3909), LBR(3930), ELANE(1991), TNFSF11(8600), NHS(4810), DNAI1(27019), NGF(4803), KRT17(3872), CDH3(1001), PTPN11(5781), L1CAM(3897), FBLN5(10516), NPHP3(27031), FREM2(341640), KRT6B(3854), ADAMTSL2(9719), ST14(6768), KRT6A(3853), STAT3(6774), KRT4(3851), NLRP3(114548), TP63(8626), KRAS(3845), SEMA3E(9723), EFNB1(1947), SUMF1(285362), MMACHC(25974), SSTR5(6755), KRT16(3868), SLC34A3(142680), AGPAT2(10555), KRT14(3861), KRT13(3860), PNKD(25953), PVRL1(5818)]
ABNORMALITY OF THE FEET(HP:0001760)	[SH3TC2(79628), FBN1(2200), RET(5979), FBN2(2201), FKRP(79147), ATRX(546), NPR2(4882), ATR(545), SACS(26278), FBLN1(2192), CCBE1(147372), TGFBR1(7046), GAN(8139), HSD17B4(3295), H19(283120), SLC16A2(6567), GLI3(2737), NOG(9241), HRAS(3265), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), EMG1(10436), BBS9(27241), GNPTAB(79158), SBF2(81846), GPC3(2719), LYST(1130), HSPB1(3315), KIF5A(3798), NTRK1(4914), SEC23A(10484), B3GALTL(145173), ROR2(4920), GJB1(2705), SLC6A8(6535), DDR2(4921), GJB2(2706), SLC9A6(10479), RAB3GAP2(25782), MPZ(4359), GJA1(2697), CHRNG(1146), POR(5447), ATP7A(538), MKKS(8195), SNRPN(6638), FBXO7(25793), UPF3B(65109), RAPSN(5913), NDRG1(10397), FGFR1(2260), FGFR3(2261), GDF5(8200), CDKN1B(1027), FGFR2(2263), BBS12(166379), POLG(5428), FGF14(2259), FGF10(2255), HSPB8(26353), KCNJ2(3759), HOXA13(3209), FGD1(2245), ACVR1(90), HPRT1(3251), GNAS(2778), TRIP11(9321), KAL1(3730), BBS1(582), BBS2(583), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), TRPV4(59341), WNK1(65125), BBS10(79738), KDM5C(8242), FAM123B(139285), HOXD13(3239), DOK7(285489), HOXD10(3236), CUL7(9820), CTSC(1075), PMP22(5376), SMS(6611), ATL1(51062), TRIM32(22954), TBX15(6913), ARL6(84100), CCT5(22948), ERCC4(2072), TBX3(6926), PRPS1(5631), ERCC6(2074), KIAA0196(9897), BRAF(673), B4GALT7(11285), GARS(2617), MTM1(4534), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), HNF1B(6928), ALS2(57679), DNM2(1785), BMP4(652), SPG11(80208), BCOR(54880), IRF6(3664), MTMR2(8898), FGD4(121512), PRX(57716), MKS1(54903), PRKAR1A(5573), COL1A2(1278), RECQL4(9401), COL1A1(1277), BMPR1B(658), GJB6(10804), ZFYVE26(23503), WHCR(7467), INSR(3643), WHSC1(7468), EXT1(2131), CEP290(80184), ZMPSTE24(10269), WNT10B(7480), MED12(9968), DHCR24(1718), RMRP(6023), HGD(3081), DHCR7(1717), DYM(54808), GDAP1(54332), WNT7A(7476), EVC(2121), MFN2(9927), CLCF1(23529), SHFM1(7979), WISP3(8838), CHST14(113189), EIF2AK3(9451), ALDH3A2(224), DES(1674), ATP6V0A2(23545), GBA(2629), ALPL(249), CHST3(9469), APTX(54840), MYCN(4613), TBX4(9496), MYOT(9499), GUSB(2990), BBS5(129880), SALL4(57167), MYH3(4621), SETX(23064), NSD1(64324), LMBR1(64327), FERMT1(55612), ESCO2(157570), MYH7(4625), MATN3(4148), MYH8(4626), PTCH1(5727), AURKC(6795), RAB7A(7879), GNE(10020), IHH(3549), SC5DL(6309), CANT1(124583), NIPA1(123606), SALL1(6299), YARS(8565), TMEM216(51259), PEX10(5192), KIF1B(23095), PEX14(5195), PEX13(5194), PEX1(5189), AIP(9049), PEX7(5191), LRP5(4041), PFKM(5213), SLC17A5(26503), LITAF(9516), CREBBP(1387), SIL1(64374), SLC12A6(9990), PTH1R(5745), RAB23(51715), TCAP(8557), CPT2(1376), ADAMTS2(9509), LMNA(4000), COL17A1(1308), EVC2(132884), INPP5E(56623), MECP2(4204), COL11A2(1302), LMX1B(4010), COL5A2(1290), SLC26A2(1836), COL6A1(1291), SPG20(23111), CUL4B(8450), COL5A1(1289), NDN(4692), PHF6(84295), DSP(1832), COL6A2(1292), COL6A3(1293), TREM2(54209), COL2A1(1280), COL3A1(1281), MEN1(4221), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), TBCE(6905), VPS13B(157680), PORCN(64840), PEX3(8504), LIFR(3977), EBP(10682), OFD1(8481), PANK2(80025), IGHMBP2(3508), BBS7(55212), ALMS1(7840), TYROBP(7305), PEX19(5824), ABCD3(5825), PLOD1(5351), EP300(2033), PEX2(5828), TWIST1(7291), LARGE(9215), PEX5(5830), RPS6KA3(6197), NEFL(4747), MGP(4256), SPG7(6687), PLP1(5354), FLNA(2316), PLOD2(5352), FLNB(2317), IDS(3423), SOX10(6663), SOX9(6662), SLC35D1(23169), FMR1(2332), LAMB3(3914), PLEKHG5(57449), LAMC2(3918), EMD(2010), LAMA3(3909), LBR(3930), LAMP2(3920), MGAT2(4247), CTDP1(9150), HSPG2(3339), MBD5(55777), TRPS1(7227), RYR1(6261), CD96(10225), NGF(4803), CRYAB(1410), EGR2(1959), L1CAM(3897), PITX1(5307), FXN(2395), ADAMTSL2(9719), ALG3(10195), PHEX(5251), TP63(8626), KRAS(3845), HYLS1(219844), EFNB1(1947), SUMF1(285362), SSTR5(6755), PHYH(5264), MMP2(4313), TPM2(7169), AGPAT2(10555), TPM3(7170), PVRL1(5818), SPTLC1(10558)]
ABNORMALITY OF THE FEMALE GENITALIA(HP:0010460)	[RET(5979), BBS5(129880), PROK2(60675), ATR(545), NELF(26012), SALL4(57167), ESCO2(157570), STK11(6794), MYH9(4627), PTCH1(5727), UBR1(197131), BBS9(27241), UPK3A(7380), SALL1(6299), PPARG(5468), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), AIP(9049), PEX1(5189), PTEN(5728), B3GALTL(145173), DCAF17(80067), ROR2(4920), FSHB(2488), FSHR(2492), CHRNG(1146), POR(5447), FST(10468), GP1BA(2811), MKKS(8195), SNRPN(6638), FH(2271), HCCS(3052), GP9(2815), LMNA(4000), GP1BB(2812), FGFR1(2260), NBN(4683), TAC3(6866), FGFR2(2263), BBS12(166379), POLG(5428), TACR3(6870), AIRE(326), NDN(4692), HOXA13(3209), CYP19A1(1588), COL3A1(1281), CYP17A1(1586), TTC8(123016), PEX26(55670), CYP11B1(1584), BSCL2(26580), FOXC2(2303), BBS1(582), BBS2(583), PORCN(64840), BBS4(585), PCSK1(5122), PEX3(8504), NIPBL(25836), BBS10(79738), BBS7(55212), ALMS1(7840), DHH(50846), AR(367), CHD7(55636), PEX19(5824), ABCD3(5825), PEX2(5828), TRIM32(22954), TBX15(6913), PEX5(5830), RPS6KA3(6197), ARL6(84100), HNF1A(6927), STRA6(64220), ITGB3(3690), HNF1B(6928), PMM2(5373), ITGA2B(3674), BCOR(54880), IRF6(3664), WT1(7490), FOXL2(668), MKS1(54903), KISS1R(84634), WNT4(54361), RECQL4(9401), BMPR1B(658), SRY(6736), WHCR(7467), CD96(10225), INSR(3643), WHSC1(7468), ATM(472), ERCC8(1161), ATIC(471), CEP290(80184), PAX3(5077), PTPN11(5781), DHCR24(1718), EIF2B2(8892), EIF2B5(8893), DHCR7(1717), EIF2B4(8890), EIF2B3(8891), WNT3(7473), EIF2B1(1967), FREM2(341640), WNT7A(7476), HFE(3077), FRAS1(80144), TP63(8626), HYLS1(219844), SEMA3E(9723), PPP1R3A(5506), VWF(7450), SSTR5(6755), AGPAT2(10555), F10(2159), MNX1(3110), F5(2153)]
ABNORMALITY OF THE FEMORAL HEAD(HP:0003368)	[SMARCAL1(50485), TRAPPC2(6399), RET(5979), ADAMTSL2(9719), TBX4(9496), TRPS1(7227), PCNT(5116), WISP3(8838), COL11A2(1302), SLC26A2(1836), SBDS(51119), MATN3(4148), GNPTG(84572), DYM(54808), ACAN(176), COL2A1(1280), IHH(3549)]
ABNORMALITY OF THE FEMORAL METAPHYSIS(HP:0006489)	[FGFR3(2261)]
ABNORMALITY OF THE FEMORAL NECK(HP:0003367)	[TRAPPC2(6399), TRPV4(59341), COMP(1311), MATN3(4148), FGFR3(2261), IHH(3549), SHOX(6473), BMPR1B(658), ACVR1(90)]
ABNORMALITY OF THE FEMORAL NECK AND HEAD REGION(HP:0003366)	[TRAPPC2(6399), SMARCAL1(50485), RET(5979), ADAMTSL2(9719), TRPS1(7227), TBX4(9496), COMP(1311), PCNT(5116), WISP3(8838), FGFR3(2261), COL11A2(1302), SHOX(6473), TRPV4(59341), SLC26A2(1836), LBR(3930), SBDS(51119), MATN3(4148), GNPTG(84572), DYM(54808), COL2A1(1280), ACAN(176), IHH(3549), BMPR1B(658), ACVR1(90)]
ABNORMALITY OF THE FEMUR(HP:0002823)	[TRAPPC2(6399), HSPG2(3339), RET(5979), TBX4(9496), TRPS1(7227), COMP(1311), FGFR1(2260), FGFR3(2261), VDR(7421), GDF5(8200), FGFR2(2263), MMP13(4322), COL11A2(1302), COL11A1(1301), FLNA(2316), CYP2R1(120227), PLOD2(5352), LMX1B(4010), FLNB(2317), SLC26A2(1836), CYP27B1(1594), SBDS(51119), MATN3(4148), DYM(54808), COL2A1(1280), IHH(3549), WNT7A(7476), ACVR1(90), SMARCAL1(50485), ANKH(56172), ADAMTSL2(9719), CLCN5(1184), PHEX(5251), PCNT(5116), WISP3(8838), SHOX(6473), TRPV4(59341), LBR(3930), GBA(2629), GNPAT(8443), SLC34A3(142680), COL1A2(1278), POR(5447), GNPTG(84572), ACAN(176), COL1A1(1277), BMPR1B(658), LEPRE1(64175)]
ABNORMALITY OF THE FIBULA(HP:0002991)	[CLCN5(1184), PHEX(5251), TBX15(6913), ATR(545), LMBR1(64327), VDR(7421), GDF5(8200), DDR2(4921), SHOX(6473), FLNA(2316), CYP2R1(120227), FLNB(2317), SOX9(6662), FAM123B(139285), CYP27B1(1594), PAPSS2(9060), SLC34A3(142680), GPC6(10082), IHH(3549), WNT7A(7476), BMPR1B(658), CANT1(124583)]
ABNORMALITY OF THE FINGERNAILS(HP:0001231)	[LBR(3930), WHCR(7467), NOG(9241), WHSC1(7468), ENG(2022), RPS6KA3(6197), PORCN(64840), ACVRL1(94), ROR2(4920), TFAP2A(7020), LAMA3(3909)]
ABNORMALITY OF THE FINGERS(HP:0001167)	[FBN1(2200), FBN2(2201), NPR2(4882), ATRX(546), ATR(545), SACS(26278), CCBE1(147372), TGFBR1(7046), H19(283120), GLI3(2737), DCR(1637), NOG(9241), HRAS(3265), CRLF1(9244), ADAMTS10(81794), FANCD2(2177), RPGRIP1L(23322), FANCC(2176), FANCE(2178), EMG1(10436), UBR1(197131), BBS9(27241), GNPTAB(79158), GPC3(2719), NOD2(64127), B3GALTL(145173), ROR2(4920), DDR2(4921), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), CHRNG(1146), POR(5447), KCNJ11(3767), MKKS(8195), SNRPN(6638), UPF3B(65109), RAPSN(5913), FGFR1(2260), FGFR3(2261), GDF5(8200), OCRL(4952), FGFR2(2263), BBS12(166379), FGF10(2255), HOXA11(3207), HOXA13(3209), FGD1(2245), KCNJ2(3759), ACVRL1(94), ACVR1(90), HPGD(3248), GNAS(2778), BBS1(582), SFTPA2(729238), BBS2(583), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), WNK1(65125), TRPV4(59341), BBS10(79738), ZFPM2(23414), KDM5C(8242), HOXD13(3239), FAM123B(139285), DOK7(285489), CUL7(9820), CTSC(1075), SMS(6611), ABCA12(26154), TRIM32(22954), TBX15(6913), SFTPB(6439), ARL6(84100), GATA1(2623), TBX3(6926), ERCC6(2074), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), TREX1(11277), BMP4(652), BLM(641), MKS1(54903), MIPOL1(145282), RECQL4(9401), KIAA1279(26128), JAG1(182), BMPR1A(657), BMPR1B(658), WHCR(7467), WFS1(7466), WHSC1(7468), GGCX(2677), ERCC8(1161), CEP290(80184), ZMPSTE24(10269), INS(3630), MED12(9968), RMRP(6023), DHCR7(1717), GDF1(2657), DYM(54808), WNT7A(7476), EVC(2121), PHGDH(26227), FRAS1(80144), GCK(2645), PCNT(5116), CLCF1(23529), SHFM1(7979), SOST(50964), FANCA(2175), WISP3(8838), CHST14(113189), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), CHST3(9469), MYCN(4613), BBS5(129880), SALL4(57167), MYH3(4621), NSD1(64324), LMBR1(64327), ESCO2(157570), ALX3(257), MYH7(4625), STK11(6794), SMAD4(4089), IHH(3549), SC5DL(6309), CANT1(124583), SALL1(6299), TMEM216(51259), UROS(7390), PTEN(5728), ABCC8(6833), CREBBP(1387), SLC12A6(9990), RAB23(51715), PTH1R(5745), CPT2(1376), ADAMTS2(9509), COMP(1311), LMNA(4000), COL17A1(1308), EVC2(132884), INPP5E(56623), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), COL6A1(1291), NDN(4692), PHF6(84295), DSP(1832), IGF1(3479), COL6A2(1292), COL6A3(1293), IGF1R(3480), COL2A1(1280), CBS(875), COL3A1(1281), PQBP1(10084), TTC8(123016), VPS13B(157680), TBX5(6910), PORCN(64840), LIFR(3977), RUNX2(860), OFD1(8481), BBS7(55212), IGHMBP2(3508), DPAGT1(1798), HSD17B10(3028), CHD7(55636), PLOD1(5351), EP300(2033), ABCD3(5825), PEX2(5828), ARSE(415), LARGE(9215), TWIST1(7291), RPS6KA3(6197), MGP(4256), FLNA(2316), FLNB(2317), SOX9(6662), ENG(2022), NKX2-5(1482), LAMB3(3914), LAMB1(3912), LAMC2(3918), LAMA3(3909), LBR(3930), ARX(170302), CTSK(1513), MGAT2(4247), HSPG2(3339), TRPS1(7227), NHS(4810), CD96(10225), CDH3(1001), PTPN11(5781), L1CAM(3897), FREM2(341640), ADAMTSL2(9719), ALG3(10195), TP63(8626), KRAS(3845), HYLS1(219844), EFNB1(1947), SEMA3E(9723), MMP2(4313), TPM2(7169)]
ABNORMALITY OF THE FINGERTIPS(HP:0001211)	[EP300(2033), HPGD(3248), SFTPB(6439), SFTPA2(729238), NSD1(64324), FLNB(2317), MED12(9968), STK11(6794), CREBBP(1387), ENG(2022), SMAD4(4089), ACVRL1(94), BMPR1A(657)]
ABNORMALITY OF THE FONTANELLES AND CRANIAL SUTURES(HP:0000235)	[PEX19(5824), MYCN(4613), FBN1(2200), ABCD3(5825), EP300(2033), PEX2(5828), TWIST1(7291), PEX5(5830), ATR(545), RPS6KA3(6197), CCBE1(147372), TGFBR1(7046), NSD1(64324), VDR(7421), HSD17B4(3295), H19(283120), ACE(1636), REN(5972), FLNA(2316), PLOD2(5352), GLI3(2737), ESCO2(157570), KCNQ1OT1(10984), SOX9(6662), PPIB(5479), UBR1(197131), GNPTAB(79158), BMP4(652), ASPA(443), PEX10(5192), PEX14(5195), PEX13(5194), CRTAP(10491), LRP2(4036), TSHB(7252), PEX1(5189), SEC23A(10484), B3GALTL(145173), ROR2(4920), ETFDH(2110), ABCC8(6833), ETFB(2109), MCPH1(79648), ETFA(2108), CTSD(1509), MSX2(4488), AGTR1(185), GJA1(2697), GNPAT(8443), CREBBP(1387), COL1A2(1278), POR(5447), RECQL4(9401), COL1A1(1277), RAB23(51715), CTSK(1513), AGT(183), DMP1(1758), ADAMTS2(9509), ATP7A(538), KCNJ11(3767), LMNA(4000), FGFR1(2260), FGFR3(2261), MVK(4598), FGFR2(2263), CDKN1C(1028), ZMPSTE24(10269), CYP2R1(120227), INS(3630), MED12(9968), CYP27B1(1594), SH3PXD2B(285590), PEX26(55670), TBCE(6905), HPGD(3248), ALG1(56052), GCK(2645), STAT3(6774), CHST14(113189), PEX3(8504), EFNB1(1947), RUNX2(860), FAM123B(139285), HOXD13(3239), MMP2(4313), GORAB(92344), SLC34A3(142680), ALPL(249), LEPRE1(64175), PAX8(7849)]
ABNORMALITY OF THE FOOT MUSCULATURE(HP:0001436)	[SBF2(81846), MFN2(9927), LYST(1130), LMNA(4000), HSPB1(3315), KIF1B(23095), NEFL(4747), PRX(57716), TRPV4(59341), LBR(3930), CRYAB(1410), EGR2(1959), MPZ(4359), MYH7(4625), RAB7A(7879), GDAP1(54332), TCAP(8557), PMP22(5376)]
ABNORMALITY OF THE FORAMEN MAGNUM(HP:0002699)	[EP300(2033), CREBBP(1387), FGFR3(2261), FLNA(2316), RUNX2(860)]
ABNORMALITY OF THE FOREARM(HP:0002973)	[FBN1(2200), NPR2(4882), TWIST1(7291), TBX15(6913), ATR(545), SALL4(57167), TBX3(6926), LMBR1(64327), B4GALT7(11285), FLNA(2316), FLNB(2317), GLI3(2737), B2M(567), ESCO2(157570), NOG(9241), FANCD2(2177), FANCC(2176), FANCE(2178), IHH(3549), CANT1(124583), RAB3GAP2(25782), MIPOL1(145282), CHRNG(1146), POR(5447), RECQL4(9401), JAG1(182), BMPR1B(658), EXT2(2132), WHCR(7467), CD96(10225), WHSC1(7468), EXT1(2131), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), MMP13(4322), LMX1B(4010), FGF10(2255), HOXA11(3207), CECR(1055), GPC6(10082), COL2A1(1280), WNT7A(7476), TBX5(6910), TRIP11(9321), FANCA(2175), NIPBL(25836), SHOX(6473), HOXD13(3239), LEPRE1(64175)]
ABNORMALITY OF THE FOREHEAD(HP:0000290)	[FBN1(2200), FBN2(2201), NPR2(4882), ATR(545), MYH3(4621), CCBE1(147372), NSD1(64324), VDR(7421), HSD17B4(3295), H19(283120), EDARADD(128178), GLI3(2737), EDA(1896), ALX3(257), PTCH1(5727), GNE(10020), GNPTAB(79158), GLB1(2720), SC5DL(6309), PEX10(5192), DYNC2H1(79659), PEX14(5195), PEX13(5194), PEX1(5189), SEC23A(10484), PEX7(5191), LRP5(4041), B3GALTL(145173), ROR2(4920), DDR2(4921), MCPH1(79648), GJB2(2706), ACOX1(51), GJA1(2697), CREBBP(1387), POR(5447), SLC12A6(9990), CPT2(1376), MAN2B1(4125), ATP7A(538), ACTB(60), UPF3B(65109), PDHA1(5160), FH(2271), FGFR1(2260), FGFR3(2261), NBN(4683), INPP5E(56623), FGFR2(2263), CYP2R1(120227), PRPS2(5634), FGF10(2255), SOS1(6654), CYP27B1(1594), IGBP1(3476), KCNJ2(3759), GPC6(10082), FGD1(2245), KCNJ1(3758), FUCA1(2517), ASPM(259266), EDAR(10913), RELN(5649), PEX26(55670), TBCE(6905), OPHN1(4983), PEX3(8504), LIFR(3977), RUNX2(860), EBP(10682), ZFPM2(23414), OFD1(8481), KDM5C(8242), FAM123B(139285), CUL7(9820), PEX19(5824), ABCD3(5825), EP300(2033), PLOD1(5351), PLA2G6(8398), PEX2(5828), TWIST1(7291), PEX5(5830), PRPS1(5631), ERCC6(2074), BRAF(673), FLNA(2316), CTNS(1497), FLNB(2317), MAP2K1(5604), MAP2K2(5605), MID1(4281), SOX9(6662), BUB1B(701), SOX2(6657), MAPK10(5602), PMM2(5373), NKX2-5(1482), TCIRG1(10312), FMR1(2332), BMP4(652), LRPPRC(10128), D2HGDH(728294), ETFDH(2110), ETFB(2109), ETFA(2108), CTSD(1509), LBR(3930), MKS1(54903), DLX3(1747), GNPAT(8443), RECQL4(9401), COL1A1(1277), CTSK(1513), JAG1(182), WHCR(7467), CD96(10225), WHSC1(7468), ATIC(471), MED12(9968), PTPN11(5781), DHCR24(1718), GDF1(2657), TRIM37(4591), FREM2(341640), FRAS1(80144), PHEX(5251), STAT3(6774), PCNT(5116), SOST(50964), TP63(8626), KRAS(3845), TFAP2B(7021), EFNB1(1947), TFAP2A(7020), MMACHC(25974), ATP6V0A2(23545), MMP2(4313), SLC34A3(142680), ALPL(249)]
ABNORMALITY OF THE FOVEA(HP:0000493)	[TYR(7299), PAX6(5080), MITF(4286), CACNA1F(778)]
ABNORMALITY OF THE FRONTAL HAIRLINE(HP:0000599)	[FRAS1(80144), EP300(2033), LRPPRC(10128), TWIST1(7291), FGFR3(2261), FGFR2(2263), EFNB1(1947), PTPN11(5781), MID1(4281), SOS1(6654), ALX3(257), CREBBP(1387), FGD1(2245), FREM2(341640), MAN2B1(4125)]
ABNORMALITY OF THE FRONTAL SINUSES(HP:0002687)	[ALX3(257), TRIM37(4591), AGA(175), ATRX(546), DNAI1(27019), KCNJ2(3759), FUCA1(2517), CTSK(1513), COL11A1(1301), FLNA(2316), RUNX2(860)]
ABNORMALITY OF THE FUNDUS(HP:0001098)	[FBN1(2200), FKRP(79147), RET(5979), EFEMP1(2202), MERTK(10461), AUH(549), TINF2(26277), ATRX(546), SACS(26278), CLN6(54982), HSD17B4(3295), TGFB1(7040), DNAJC19(131118), GLI3(2737), HSD11B2(3291), PRPH2(5961), NPHP1(4867), HESX1(8820), COQ2(27235), CDH23(64072), ABCA4(24), RDH5(5959), SPATA7(55812), BBS9(27241), GLB1(2720), OPN1LW(5956), RHO(6010), LYST(1130), TIMP3(7078), B3GALTL(145173), CHML(1122), CHM(1121), ACOX1(51), FKTN(2218), C20orf7(79133), GJA1(2697), NPHP4(261734), NDUFS7(374291), OPN1SW(611), MKKS(8195), FH(2271), CYP4V2(285440), FGFR2(2263), BCS1L(617), BBS12(166379), FGF23(8074), COL18A1(80781), AAAS(8086), GPR143(4935), CECR(1055), GPR98(84059), OAT(4942), DTNBP1(84062), C8orf38(137682), OPA1(4976), RBP4(5950), TNFRSF11B(4982), BBS1(582), BBS2(583), BBS4(585), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), NIPBL(25836), BBS10(79738), CCND1(595), SNAP29(9342), FASTKD2(22868), RB1(5925), CRB1(23418), SMPD1(6609), BTD(686), RPGR(6103), RP2(6102), ERCC3(2071), TRIM32(22954), RP1(6101), RP9(6100), ARL6(84100), PRPS1(5631), ERCC6(2074), BRAF(673), MAP2K1(5604), MAP2K2(5605), SH3BP2(6452), BLOC1S3(388552), TREX1(11277), KL(9365), TCIRG1(10312), GALC(2581), PRPF31(26121), MFSD8(256471), DKC1(1736), GALNT3(2591), DLD(1738), CNGB1(1258), MKS1(54903), AGXT(189), RECQL4(9401), RPE65(6121), RPIA(22934), PDHX(8050), OPA3(80207), JAG1(182), RAB3GAP1(22930), HPS6(79803), POMT2(29954), ZFYVE26(23503), WFS1(7466), PAX6(5080), ERCC8(1161), ST3GAL5(8869), FZD4(8322), CEP290(80184), PAX3(5077), PAX2(5076), EIF2B2(8892), MED12(9968), CA4(762), EIF2B5(8893), PPT1(5538), CA2(760), TRIM37(4591), EIF2B4(8890), WRN(7486), AHI1(54806), EIF2B3(8891), RLBP1(6017), HEXA(3073), TEAD1(7003), PCDH15(65217), COQ9(57017), IMPDH1(3614), BEST1(7439), MFN2(9927), PROM1(8842), SOST(50964), TIMM8A(1678), TFAP2A(7020), OPN1MW(2652), ALDH3A2(224), VHL(7428), CLN5(1203), TPP1(1200), CLN3(1201), APTX(54840), MTTP(4547), CABC1(56997), PGK1(5230), CLDN19(149461), BBS5(129880), SALL4(57167), HPS5(11234), GJC2(57165), EDNRB(1910), ATXN7(6314), IKBKG(8517), USH2A(7399), CP(1356), GUCY2D(3000), COX15(1355), USH1G(124590), ATXN1(6310), ELOVL4(6785), ATXN2(6311), CLRN1(7401), UQCRB(7381), MYO7A(4647), SALL1(6299), CRX(1406), TMEM216(51259), PTGS1(5742), PEX10(5192), KIF1B(23095), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), NUP62(23636), MCOLN1(57192), SURF1(6834), NR2E3(10002), C10orf2(56652), AP3B1(8546), CREBBP(1387), CNNM4(26504), NAGA(4668), RAB23(51715), CACNA1F(778), MAN2B1(4125), APOB(338), HCCS(3052), C1QTNF5(114902), CNGB3(54714), SDHD(6392), KRIT1(889), SDHB(6390), INPP5E(56623), SDHA(6389), PDE6B(5158), COL11A1(1301), PDSS2(57107), APC(324), NDP(4693), NDUFA1(4694), NDUFA2(4695), COL4A1(1282), USH1C(10083), PDSS1(23590), COL2A1(1280), PEX26(55670), TTC8(123016), POMGNT1(55624), VPS13B(157680), ABCC6(368), COX6B1(1340), HPS3(84343), PORCN(64840), PEX3(8504), NDUFS1(4719), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), HADHB(3032), PANK2(80025), TYR(7299), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), NDUFS8(4728), HADHA(3030), CHD7(55636), HSD17B10(3028), SLC25A15(10166), PEX19(5824), ARSA(410), ABCD3(5825), PLOD1(5351), EP300(2033), PEX2(5828), LARGE(9215), PEX5(5830), TULP1(7287), SPG7(6687), PLP1(5354), NDUFAF2(91942), FLNB(2317), CTNS(1497), IDS(3423), SOX2(6657), MITF(4286), UQCRQ(27089), PMM2(5373), POMT1(10585), ASPA(443), PRPF8(10594), NDUFAF3(25915), IQCB1(9657), TSC1(7248), TSC2(7249), NF2(4771), L2HGDH(79944), CTSD(1509), ARX(170302), TNFSF11(8600), ATIC(471), CDH3(1001), RS1(6247), PRPF3(9129), GSS(2937), EIF2B1(1967), ALG3(10195), VCAN(1462), KRAS(3845), SEMA3E(9723), MMACHC(25974), PHYH(5264), HPS4(89781), NOTCH3(4854)]
ABNORMALITY OF THE GALLBLADDER(HP:0005264)	[SC5DL(6309)]
ABNORMALITY OF THE GASTRIC MUCOSA(HP:0004295)	[AIRE(326), ERBB2(2064), APC(324), IRF1(3659), PIK3CA(5290), APOA1(335), CASP10(843), FGFR2(2263), KRAS(3845), KLF6(1316), CDH1(999), MUTYH(4595)]
ABNORMALITY OF THE GENITAL TRACT(HP:0000078)	[FBN1(2200), RET(5979), FKRP(79147), DCX(1641), ATRX(546), TGM1(7051), PROK2(60675), ATR(545), CCBE1(147372), HSD17B3(3293), GLRB(2743), GLRA1(2741), H19(283120), DNAJC19(131118), GLI3(2737), KCNQ1OT1(10984), COQ2(27235), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), GNPTAB(79158), BBS9(27241), GLB1(2720), PPARG(5468), GPC3(2719), DYNC2H1(79659), SEC23A(10484), B3GALTL(145173), ROR2(4920), FKTN(2218), GTF2H5(404672), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), DAZ1(1617), POR(5447), FST(10468), PROKR2(128674), GP1BA(2811), CYP11A1(1583), MKKS(8195), SNRPN(6638), FH(2271), GP9(2815), GP1BB(2812), RAPSN(5913), ZEB2(9839), FGFR1(2260), FGFR3(2261), OCRL(4952), BCS1L(617), FGFR2(2263), BBS12(166379), POLG(5428), CDKN1C(1028), FGF10(2255), SOS1(6654), POLA1(5422), GNRH1(2796), HOXA13(3209), FGD1(2245), CYP21A2(1589), CYP19A1(1588), CYP17A1(1586), CYP11B1(1584), FOXC2(2303), HPRT1(3251), CNBP(7555), GNAS(2778), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), BBS4(585), ALOXE3(59344), NIPBL(25836), BBS10(79738), CCND1(595), KDM5C(8242), CFTR(1080), HOXD13(3239), DOK7(285489), CUL7(9820), SMS(6611), DMPK(1760), ERCC2(2068), TRIM32(22954), EFEMP2(30008), TBX15(6913), ERCC3(2071), ARL6(84100), HNF1A(6927), TBX3(6926), STRA6(64220), ERCC6(2074), MTM1(4534), PROP1(5626), ITGB3(3690), BUB1B(701), HNF1B(6928), BTK(695), SYCP3(50511), TCOF1(6949), BMP4(652), ITGA2B(3674), AGA(175), BCOR(54880), SOX18(54345), GALNS(2588), DKC1(1736), IRF6(3664), BLM(641), ETFDH(2110), WT1(7490), ETFB(2109), ETFA(2108), FOXL2(668), MKS1(54903), KISS1R(84634), NR0B1(190), COL1A2(1278), RECQL4(9401), WNT4(54361), COL1A1(1277), RAB3GAP1(22930), BMPR1B(658), POMT2(29954), WHCR(7467), WFS1(7466), INSR(3643), WHSC1(7468), INSL3(3640), ERCC8(1161), CEP290(80184), PAX3(5077), ZMPSTE24(10269), EIF2B2(8892), MED12(9968), DHCR24(1718), EIF2B5(8893), GPHN(10243), DHCR7(1717), DGCR(1714), RXFP2(122042), EIF2B4(8890), WRN(7486), EIF2B3(8891), WNT3(7473), HEXB(3074), ABCD1(215), WNT7A(7476), EVC(2121), HFE(3077), PHGDH(26227), FRAS1(80144), COQ9(57017), ALG1(56052), PCNT(5116), F13A1(2162), FANCA(2175), TFAP2A(7020), VHL(7428), PPP1R3A(5506), VWF(7450), ATP6V0A2(23545), F10(2159), APTX(54840), MNX1(3110), ALOX12B(242), LEPRE1(64175), CABC1(56997), F5(2153), GUSB(2990), BBS5(129880), MYH3(4621), NELF(26012), SALL4(57167), NSD1(64324), FERMT1(55612), ESCO2(157570), STK11(6794), MYH9(4627), PTCH1(5727), AURKC(6795), GNE(10020), AMH(268), AMHR2(269), SC5DL(6309), UPK3A(7380), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), AIP(9049), PTEN(5728), DCAF17(80067), FSHB(2488), FSHR(2492), CREBBP(1387), SIL1(64374), RAB23(51715), MAN2B1(4125), ADAMTS2(9509), LMNB1(4001), HCCS(3052), LMNA(4000), EVC2(132884), LOX(4015), INPP5E(56623), NBN(4683), TAC3(6866), MECP2(4204), TACR3(6870), AIRE(326), COL5A2(1290), SLC26A2(1836), PDSS2(57107), CUL4B(8450), COL5A1(1289), NDN(4692), PHF6(84295), SPATA16(83893), DSP(1832), GPC6(10082), PDSS1(23590), COL2A1(1280), CBS(875), COL3A1(1281), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), GOPC(57120), LHCGR(3973), TBCE(6905), LHB(3972), UBA1(7317), SLC39A4(55630), TBX1(6899), PORCN(64840), PEX3(8504), PCSK1(5122), OFD1(8481), BBS7(55212), ALMS1(7840), DHH(50846), AR(367), CHD7(55636), PEX19(5824), ABCD3(5825), PLOD1(5351), ARSB(411), EP300(2033), PEX2(5828), ARSE(415), LARGE(9215), PEX5(5830), STS(412), RPS6KA3(6197), FLNA(2316), PLOD2(5352), CTNS(1497), FLNB(2317), IDS(3423), MID1(4281), SOX2(6657), FLT4(2324), PMM2(5373), NEU1(4758), POMT1(10585), FMR1(2332), ELN(2006), TSPYL1(7259), SRD5A2(6716), ARX(170302), MBTPS2(51360), SLC6A5(9152), PLEC(5339), CTDP1(9150), SRY(6736), HSPG2(3339), CD96(10225), DNAI1(27019), ATM(472), ATIC(471), PTPN11(5781), FBLN5(10516), EIF2B1(1967), FREM2(341640), PITX2(5308), STAR(6770), DCLRE1C(64421), TP63(8626), HYLS1(219844), SEMA3E(9723), EFNB1(1947), SSTR5(6755), TPM2(7169), AGPAT2(10555)]
ABNORMALITY OF THE GLOBUS PALLIDUS(HP:0002453)	[PANK2(80025), MUT(4594)]
ABNORMALITY OF THE GREATER SACROSCIATIC NOTCH(HP:0010456)	[GUSB(2990), DYM(54808), COL2A1(1280)]
ABNORMALITY OF THE HAIRLINE(HP:0009553)	[EP300(2033), WHCR(7467), TWIST1(7291), WHSC1(7468), FGFR3(2261), FGFR2(2263), PTPN11(5781), MID1(4281), SOS1(6654), ALX3(257), FGD1(2245), GNE(10020), FREM2(341640), GDF6(392255), TCOF1(6949), FRAS1(80144), LRPPRC(10128), TSC1(7248), TFAP2A(7020), TSC2(7249), EFNB1(1947), NIPBL(25836), ALDOA(226), CREBBP(1387), MAN2B1(4125)]
ABNORMALITY OF THE HALLUX(HP:0001844)	[EP300(2033), NPR2(4882), TWIST1(7291), FGFR1(2260), FGFR3(2261), LMBR1(64327), MGP(4256), GDF5(8200), FGFR2(2263), FLNA(2316), GLI3(2737), SLC16A2(6567), MED12(9968), FGF10(2255), NOG(9241), HOXA13(3209), GNE(10020), IHH(3549), ACVR1(90), CANT1(124583), TP63(8626), HYLS1(219844), EFNB1(1947), SUMF1(285362), HOXD13(3239), CREBBP(1387), RAB23(51715), SMS(6611), BMPR1B(658)]
ABNORMALITY OF THE HAMATE BONE(HP:0004259)	[FGFR3(2261), EVC2(132884), EVC(2121), ATP7A(538)]
ABNORMALITY OF THE HAND(HP:0001155)	[FBN1(2200), FBN2(2201), ATRX(546), NPR2(4882), ATR(545), SACS(26278), FBLN1(2192), CCBE1(147372), TGFBR1(7046), HSD17B4(3295), DCTN1(1639), H19(283120), DPM1(8813), DCR(1637), GLI3(2737), ABCA1(19), NOG(9241), HRAS(3265), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), FANCE(2178), EMG1(10436), UBR1(197131), GNPTAB(79158), BBS9(27241), GLB1(2720), SBF2(81846), GLA(2717), GPC3(2719), NOD2(64127), HSPB1(3315), NTRK1(4914), B3GALTL(145173), ROR2(4920), DDR2(4921), GJB2(2706), SLC9A6(10479), RAB3GAP2(25782), MPZ(4359), GJA1(2697), CHRNG(1146), POR(5447), ATP7A(538), KCNJ11(3767), MKKS(8195), SNRPN(6638), UPF3B(65109), RAPSN(5913), NDRG1(10397), FGFR1(2260), FGFR3(2261), OCRL(4952), GDF5(8200), CDKN1B(1027), FGFR2(2263), BBS12(166379), FGF10(2255), SOS1(6654), HOXA11(3207), KCNJ2(3759), HOXA13(3209), FGD1(2245), ACVRL1(94), ACVR1(90), GNAS(2778), HPGD(3248), TRIP11(9321), SFTPA2(729238), BBS1(582), BBS2(583), TNNI2(7136), BBS4(585), KCNA1(3736), TNNT3(7140), NIPBL(25836), WNK1(65125), TRPV4(59341), BBS10(79738), ZFPM2(23414), KDM5C(8242), FAM123B(139285), HOXD13(3239), DOK7(285489), CUL7(9820), CTSC(1075), GNPTG(84572), PMP22(5376), SMS(6611), ABCA12(26154), TRIM32(22954), TBX15(6913), SFTPB(6439), CCT5(22948), ARL6(84100), GATA1(2623), ERCC4(2072), TBX3(6926), ERCC6(2074), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), ALS2(57679), TREX1(11277), BMP4(652), GALNS(2588), BLM(641), PRX(57716), MKS1(54903), PRKAR1A(5573), MIPOL1(145282), RECQL4(9401), KIAA1279(26128), JAG1(182), BMPR1A(657), BMPR1B(658), GJB6(10804), EXT2(2132), WHCR(7467), WFS1(7466), INSR(3643), EHMT1(79813), WHSC1(7468), EXT1(2131), GGCX(2677), ERCC8(1161), CEP290(80184), PAX3(5077), ZMPSTE24(10269), INS(3630), WNT10B(7480), MED12(9968), DHCR24(1718), RMRP(6023), GDF1(2657), DHCR7(1717), DYM(54808), GDAP1(54332), WNT7A(7476), EVC(2121), PHGDH(26227), FRAS1(80144), GCK(2645), CLCF1(23529), PCNT(5116), SHFM1(7979), SOST(50964), FANCA(2175), WISP3(8838), CHST14(113189), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), SHOX(6473), ALDH3A2(224), CHST3(9469), LEPRE1(64175), MYCN(4613), GUSB(2990), BBS5(129880), SALL4(57167), MYH3(4621), NSD1(64324), LMBR1(64327), ESCO2(157570), ALX3(257), MYH7(4625), MATN3(4148), STK11(6794), PTCH1(5727), AURKC(6795), RAB7A(7879), SMAD4(4089), IHH(3549), SC5DL(6309), CANT1(124583), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), AIP(9049), LRP5(4041), PTEN(5728), UROS(7390), ABCC8(6833), CREBBP(1387), SIL1(64374), SLC12A6(9990), RAB23(51715), PTH1R(5745), CPT2(1376), ADAMTS2(9509), COMP(1311), LMNA(4000), COL17A1(1308), COL9A3(1299), EVC2(132884), COL9A2(1298), INPP5E(56623), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), COL6A1(1291), NDN(4692), PHF6(84295), COL7A1(1294), DSP(1832), IGF1(3479), COL6A2(1292), TREM2(54209), COL6A3(1293), COL2A1(1280), IGF1R(3480), MEN1(4221), CBS(875), COL3A1(1281), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), TBCE(6905), VPS13B(157680), TBX5(6910), TBX1(6899), PORCN(64840), PEX3(8504), LIFR(3977), RUNX2(860), EBP(10682), OFD1(8481), IGHMBP2(3508), BBS7(55212), ALMS1(7840), MOGS(7841), DPAGT1(1798), TYROBP(7305), CHD7(55636), HSD17B10(3028), PEX19(5824), ABCD3(5825), PLOD1(5351), ARSB(411), EP300(2033), PEX2(5828), ARSE(415), TWIST1(7291), LARGE(9215), PEX5(5830), RPS6KA3(6197), NEFL(4747), MGP(4256), FLNA(2316), FLNB(2317), IDS(3423), SOX9(6662), ENG(2022), SLC35D1(23169), NKX2-5(1482), LAMB3(3914), PLEKHG5(57449), LAMB1(3912), LAMC2(3918), LAMA3(3909), LBR(3930), ARX(170302), CTSK(1513), MGAT2(4247), CTDP1(9150), HSPG2(3339), TRPS1(7227), NHS(4810), CD96(10225), NGF(4803), CDH3(1001), PTPN11(5781), EGR2(1959), L1CAM(3897), FREM2(341640), ADAMTSL2(9719), ALG3(10195), TP63(8626), KRAS(3845), HYLS1(219844), SEMA3E(9723), EFNB1(1947), SSTR5(6755), MMP2(4313), TPM2(7169), AGPAT2(10555), SPTLC1(10558)]
ABNORMALITY OF THE HEART VALVES(HP:0001654)	[FBN1(2200), ARSB(411), FBN2(2201), GUSB(2990), EFEMP2(30008), RPS6KA3(6197), TGFBR1(7046), STRA6(64220), BRAF(673), FLNA(2316), MAP2K1(5604), IDS(3423), MAP2K2(5605), ESCO2(157570), HRAS(3265), MYH7(4625), ZIC3(7547), GNPTAB(79158), GLB1(2720), FMR1(2332), GPC3(2719), ELN(2006), AGA(175), SLC2A10(81031), BCOR(54880), GALNS(2588), D2HGDH(728294), B3GALTL(145173), MYLK2(85366), PRKAR1A(5573), SLC25A4(291), GJA1(2697), COL1A2(1278), ZNF469(84627), RAB23(51715), COL1A1(1277), ZEB2(9839), LOX(4015), POLG(5428), COL5A2(1290), PTPN11(5781), HGD(3081), COL5A1(1289), SOS1(6654), FBLN5(10516), COL2A1(1280), COL3A1(1281), CBS(875), NPHP3(27031), PKD2(5311), PKD1(5310), ADAMTSL2(9719), VPS13B(157680), TNXB(7148), ABCC6(368), CAV3(859), KRAS(3845), VWF(7450), GBA(2629), GNPTG(84572), NOTCH1(4851)]
ABNORMALITY OF THE HELIX(HP:0000380)	[PEX19(5824), HSPG2(3339), ADAMTSL2(9719), ABCD3(5825), SALL1(6299), PEX2(5828), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), TFAP2A(7020), SLC16A2(6567), MED12(9968), FAM123B(139285), CPT2(1376), EVC(2121), PEX26(55670)]
ABNORMALITY OF THE HEPATIC VASCULATURE(HP:0006707)	[ENG(2022), KRIT1(889), RECQL4(9401), ACVRL1(94)]
ABNORMALITY OF THE HIP(HP:0003272)	[FBN1(2200), RET(5979), FBN2(2201), TBX4(9496), ARSB(411), GUSB(2990), ATR(545), MYH3(4621), GATA1(2623), GLRB(2743), GLRA1(2741), FLNA(2316), GLI3(2737), DCR(1637), FLNB(2317), ESCO2(157570), SOX9(6662), MATN3(4148), MYH8(4626), SLC35D1(23169), NSDHL(50814), IHH(3549), GNPTAB(79158), GLB1(2720), CANT1(124583), LAMB1(3912), CRTAP(10491), DDR2(4921), LBR(3930), AP3B1(8546), GJA1(2697), CHRNG(1146), COL1A2(1278), ACTA1(58), SLC6A5(9152), ZNF469(84627), ACAN(176), COL1A1(1277), PTH1R(5745), BMPR1B(658), TRAPPC2(6399), HSPG2(3339), MKKS(8195), TRPS1(7227), WHCR(7467), RYR1(6261), CD96(10225), COMP(1311), WHSC1(7468), FGFR3(2261), OCRL(4952), GDF5(8200), COL11A2(1302), EYA1(2138), SLC26A2(1836), COL6A1(1291), GPHN(10243), HOXA11(3207), COL6A2(1292), SBDS(51119), COL6A3(1293), DYM(54808), COL2A1(1280), WNT7A(7476), ACVR1(90), SMARCAL1(50485), ADAMTSL2(9719), PCNT(5116), WISP3(8838), PORCN(64840), TNNT1(7138), SHOX(6473), EIF2AK3(9451), TRPV4(59341), OFD1(8481), ATP6V0A2(23545), MMP2(4313), TPM2(7169), GNPTG(84572), CHST3(9469)]
ABNORMALITY OF THE HIP JOINTS(HP:0001384)	[HSPG2(3339), MKKS(8195), ARSB(411), WHCR(7467), RYR1(6261), CD96(10225), WHSC1(7468), ATR(545), MYH3(4621), GLRB(2743), OCRL(4952), GDF5(8200), GLRA1(2741), FLNA(2316), GLI3(2737), EYA1(2138), FLNB(2317), SLC26A2(1836), COL6A1(1291), GPHN(10243), SOX9(6662), HOXA11(3207), COL6A2(1292), MYH8(4626), COL6A3(1293), NSDHL(50814), COL2A1(1280), WNT7A(7476), GNPTAB(79158), LAMB1(3912), PORCN(64840), DDR2(4921), EIF2AK3(9451), OFD1(8481), AP3B1(8546), ATP6V0A2(23545), GJA1(2697), CHRNG(1146), TPM2(7169), COL1A2(1278), ACTA1(58), SLC6A5(9152), ZNF469(84627), COL1A1(1277)]
ABNORMALITY OF THE HIP-GIRDLE MUSCULATURE(HP:0001445)	[MYOT(9499), LMNA(4000), TRIM32(22954), SGCB(6443), ANO5(203859)]
ABNORMALITY OF THE HUMERAL EPIPHYSES(HP:0003891)	[GNPAT(8443), DYM(54808)]
ABNORMALITY OF THE HUMERAL HEADS(HP:0003887)	[GNPTAB(79158)]
ABNORMALITY OF THE HUMERUS(HP:0003063)	[FGFR1(2260), SALL4(57167), TBX3(6926), LMBR1(64327), GDF5(8200), FGFR2(2263), FLNA(2316), FLNB(2317), TRPV4(59341), NOG(9241), GNPAT(8443), DYM(54808), POR(5447), GPC6(10082), RECQL4(9401), CHST3(9469), IHH(3549), GNPTAB(79158), ATP7A(538)]
ABNORMALITY OF THE HYPOTHALAMUS(HP:0002443)	[OFD1(8481), SOX2(6657), GLI3(2737)]
ABNORMALITY OF THE HYPOTHALAMUS-PITUITARY AXIS(HP:0000864)	[AVP(551), SNRPN(6638), INSR(3643), SIX3(6496), LHX4(89884), CDKN1B(1027), H19(283120), GLI3(2737), PROP1(5626), THRB(7068), NDN(4692), SOX2(6657), HESX1(8820), SOX3(6658), GNRH1(2796), BTK(695), MEN1(4221), LHX3(8022), PITX2(5308), BMP4(652), SHH(6469), GNAS(2778), VPS13B(157680), TP63(8626), AIP(9049), CRH(1392), SEMA3E(9723), SSTR5(6755), PRKAR1A(5573), ALMS1(7840), GH1(2688), CHD7(55636)]
ABNORMALITY OF THE ILEUM(HP:0001549)	[GPC3(2719), FGFR1(2260)]
ABNORMALITY OF THE ILIUM(HP:0002867)	[TRAPPC2(6399), ARSB(411), EP300(2033), TBX15(6913), RPS6KA3(6197), ERCC8(1161), GATA1(2623), CCBE1(147372), NSD1(64324), FGFR3(2261), ERCC6(2074), MMP13(4322), COL11A1(1301), FLNA(2316), LMX1B(4010), FLNB(2317), DCR(1637), SLC26A2(1836), RMRP(6023), SOX9(6662), MATN3(4148), SBDS(51119), DYM(54808), COL2A1(1280), IHH(3549), WNT7A(7476), GNPTAB(79158), GLB1(2720), GPC3(2719), PCNT(5116), SEC23A(10484), GALNS(2588), DDR2(4921), EIF2AK3(9451), RUNX2(860), CREBBP(1387), GNPTG(84572)]
ABNORMALITY OF THE INCISORS(HP:0000676)	[SHH(6469), NHS(4810), ATRX(546), VPS13B(157680), SIX3(6496), CCBE1(147372), FGFR3(2261), B3GALTL(145173), BLM(641), COL11A1(1301), FGF10(2255), ALX3(257), EVC(2121)]
ABNORMALITY OF THE INNER EAR(HP:0000359)	[ATRX(546), SALL4(57167), CCBE1(147372), EDNRB(1910), RDX(5962), USH2A(7399), NOG(9241), GUCY2D(3000), COX15(1355), USH1G(124590), MYH9(4627), COQ2(27235), CDH23(64072), TYMP(1890), UBR1(197131), MYO15A(51168), CLRN1(7401), UQCRB(7381), SBF2(81846), MYO7A(4647), TMC1(117531), SALL1(6299), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), ATP6V1B1(525), PEX7(5191), LRP5(4041), DCAF17(80067), SURF1(6834), POU3F4(5456), GJB2(2706), C10orf2(56652), ACOX1(51), CACNA1A(773), SLC25A4(291), MPZ(4359), C20orf7(79133), KCNQ1(3784), NAGA(4668), RAB23(51715), TNFRSF11A(8792), MAN2B1(4125), ACTB(60), NDUFS7(374291), ACTG1(71), FGFR1(2260), FGFR3(2261), SDHA(6389), BCS1L(617), POLG(5428), COL11A2(1302), COL11A1(1301), LMX1B(4010), PDSS2(57107), COL4A6(1288), FGF10(2255), SOS1(6654), NDP(4693), FGF3(2248), IGF1(3479), BSND(7809), HOXA11(3207), DSPP(1834), IGBP1(3476), NDUFA1(4694), NDUFA2(4695), PDSS1(23590), USH1C(10083), ACY1(95), COL2A1(1280), GPR98(84059), COL4A5(1287), PEX26(55670), GDF6(392255), SLC26A4(5172), C8orf38(137682), ACVR1(90), OPA1(4976), ABHD5(51099), ANKH(56172), COX6B1(1340), FOXI1(2299), PORCN(64840), NDUFA11(126328), PEX3(8504), NDUFAF4(29078), NDUFS1(4719), NIPBL(25836), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), SNAP29(9342), TYR(7299), NDUFS6(4726), NDUFS4(4724), FASTKD2(22868), ALMS1(7840), NDUFS8(4728), PMP22(5376), CHD7(55636), HSD17B10(3028), PEX19(5824), BTD(686), PEX2(5828), SLC19A2(10560), ERCC2(2068), PEX5(5830), ERCC3(2071), TMPRSS3(64699), RPS6KA3(6197), EYA4(2070), PRPS1(5631), MGP(4256), ERCC6(2074), NDUFAF2(91942), GRHL2(79977), FLNB(2317), SOX10(6663), SOX2(6657), MITF(4286), UQCRQ(27089), NEU1(4758), LHX3(8022), DIAPH1(1729), HOXA2(3199), GALE(2582), NDUFAF3(25915), OTOF(9381), TRIOBP(11078), BCOR(54880), DLD(1738), MYH14(79784), C20orf54(113278), COL1A2(1278), COL1A1(1277), XPA(7507), DMP1(1758), ATP1A2(477), WFS1(7466), SQSTM1(8878), ERCC8(1161), PAX3(5077), PAX2(5076), EYA1(2138), MED12(9968), PTPN11(5781), HGF(3082), KCNQ4(9132), BEAN(146227), TECTA(7007), PCDH15(65217), COQ9(57017), PHEX(5251), MFN2(9927), SOST(50964), NLRP3(114548), CLCNKB(1188), TIMM8A(1678), SEMA3E(9723), TFAP2A(7020), GATA3(2625), PHYH(5264), DFNA5(1687), ARHGEF6(9459), APTX(54840), SPTLC1(10558), CABC1(56997)]
ABNORMALITY OF THE INTERVERTEBRAL DISKS(HP:0005108)	[HGD(3081), CHST3(9469)]
ABNORMALITY OF THE INTESTINES(HP:0002242)	[RET(5979), ATRX(546), SPINK5(11005), PPOX(5498), DDC(1644), CCBE1(147372), AVPR2(554), DCR(1637), FAH(2184), HRAS(3265), UBR1(197131), BBS9(27241), GPC3(2719), SLC5A5(6528), NEUROG3(50674), SLC6A8(6535), RFX5(5993), SLC9A6(10479), RFXAP(5994), SLC12A1(6557), VANGL1(81839), ATP7A(538), SAR1B(51128), MKKS(8195), ZEB2(9839), FGFR1(2260), OCRL(4952), BBS12(166379), POLG(5428), CDKN2A(1029), BDNF(627), GNS(2799), SBDS(51119), RAG2(5897), RAG1(5896), KCNJ1(3758), DTNBP1(84062), MSH2(4436), ADA(100), PNLIP(5406), BBS1(582), BBS2(583), BBS4(585), HPS1(3257), CYBB(1536), NIPBL(25836), BBS10(79738), CFTR(1080), FAM123B(139285), TP53(7157), MLYCD(23417), SMPD1(6609), PRNP(5621), AMN(81693), BTD(686), TRIM32(22954), PHOX2B(8929), ARL6(84100), GATA1(2623), STRA6(64220), BRAF(673), MAP2K1(5604), SGSH(6448), MAP2K2(5605), ITGB4(3691), ITGB2(3689), BLOC1S3(388552), HMBS(3145), GALT(2592), CUBN(8029), SLC46A1(113235), BTK(695), DNMT3B(1789), TCN2(6948), AGA(175), DKC1(1736), MKS1(54903), RECQL4(9401), COL1A1(1277), KIAA1279(26128), ETHE1(23474), BMPR1A(657), HPS6(79803), ITGA6(3655), ZFYVE26(23503), WHCR(7467), WHSC1(7468), SIX3(6496), TNFRSF13B(23495), CEP290(80184), MVK(4598), PAX3(5077), EYA1(2138), MED12(9968), RMRP(6023), DHCR7(1717), NCF1(653361), SLC2A2(6514), HEXB(3074), CFH(3075), GDNF(2668), SLC5A1(6523), FRAS1(80144), HGSNAT(138050), SI(6476), TFAP2A(7020), SERPING1(710), DES(1674), WAS(7454), ALPL(249), MNX1(3110), MTTP(4547), C5(727), MYCN(4613), CPT1A(1374), CPOX(1371), BBS5(129880), SALL4(57167), ANCR(282), HPS5(11234), EDN3(1908), EDNRB(1910), FOXP3(50943), IKBKAP(8518), SLC7A7(9056), CDKL5(6792), STK11(6794), SMAD4(4089), TYMP(1890), SALL1(6299), MYO5B(4645), LRP2(4036), PEX1(5189), PTEN(5728), IL2RG(3561), C10orf2(56652), CREBBP(1387), ATP8B1(5205), NAGLU(4669), ICOS(29851), PRSS1(5644), TREH(11181), NBN(4683), MECP2(4204), AMACR(23600), COL5A2(1290), NCF2(4688), AIRE(326), APC(324), COL5A1(1289), COL7A1(1294), MEFV(4210), SPINT2(10653), UBE3A(7337), MEN1(4221), TTC8(123016), PEX26(55670), TMPRSS15(5651), SLC39A4(55630), HPS3(84343), G6PC(2538), PORCN(64840), MCM6(4175), PCSK1(5122), SLC26A3(1811), LIPA(3988), AQP2(359), BBS7(55212), IGHMBP2(3508), IGKC(3514), CASP8(841), CASR(846), PAX8(7849), EP300(2033), CD40LG(959), PEX2(5828), RPS6KA3(6197), FLNA(2316), CIITA(4261), IDS(3423), SOX10(6663), TTR(7276), ENG(2022), PMM2(5373), ABCB11(8647), AKR1D1(6718), CD247(919), CYBA(1535), LBR(3930), ASCL1(429), SPINK1(6690), MBTPS2(51360), PLG(5340), CD96(10225), MPI(4351), L1CAM(3897), NME1(4830), FREM2(341640), TRH(7200), NPHP3(27031), PKD2(5311), PKD1(5310), ALG3(10195), DCLRE1C(64421), MLH1(4292), PHKB(5257), KRAS(3845), RFXANK(8625), ANTXR2(118429), HPS4(89781)]
ABNORMALITY OF THE IRIS(HP:0000525)	[FBN1(2200), PEX19(5824), ABCD3(5825), FBN2(2201), FKRP(79147), PEX2(5828), LARGE(9215), PEX5(5830), SALL4(57167), GATA1(2623), ANCR(282), HPS5(11234), ERCC6(2074), EDNRB(1910), DCR(1637), SOX10(6663), CDKL5(6792), BLOC1S3(388552), MITF(4286), SNAI2(6591), NF1(4763), POMT1(10585), PAH(5053), LAMB2(3913), LYST(1130), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), MYOC(4653), LRP5(4041), B3GALTL(145173), MKS1(54903), FKTN(2218), GJA8(2703), AP3B1(8546), GJA1(2697), JAG1(182), HPS6(79803), POMT2(29954), WHCR(7467), PAX6(5080), WHSC1(7468), HCCS(3052), ZEB2(9839), MECP2(4204), PAX3(5077), LMX1B(4010), NDP(4693), CECR(1055), RAG2(5897), UROC1(131669), IGBP1(3476), RAG1(5896), COL4A1(1282), UBE3A(7337), PEX26(55670), DTNBP1(84062), PITX2(5308), SHH(6469), RBP4(5950), FOXE3(2301), ALG3(10195), CYP1B1(1545), FOXC1(2296), HPS3(84343), TP63(8626), PORCN(64840), PEX3(8504), HPS1(3257), SEMA3E(9723), TFAP2A(7020), TYR(7299), HPS4(89781), CHD7(55636)]
ABNORMALITY OF THE ISCHIAL BONES(HP:0003174)	[TRIP11(9321), MATN3(4148), TBX15(6913)]
ABNORMALITY OF THE JAWS(HP:0000209)	[MYCN(4613), FBN1(2200), FKRP(79147), FBN2(2201), TBX4(9496), ATRX(546), SCN9A(6335), ATR(545), CCBE1(147372), TGFBR1(7046), MYH3(4621), NSD1(64324), ANCR(282), HSD17B4(3295), H19(283120), TGFB1(7040), GLI3(2737), EDA(1896), ESCO2(157570), GLE1(2733), ALX3(257), CDKL5(6792), MYH8(4626), ADAMTS10(81794), PTCH1(5727), EMG1(10436), GNPTAB(79158), GLB1(2720), SC5DL(6309), CHRNA1(1134), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), LRP5(4041), B3GALTL(145173), PTEN(5728), ROR2(4920), SLC6A8(6535), DDR2(4921), SLC9A6(10479), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRNE(1145), CHRND(1144), CREBBP(1387), PUS1(80324), SLC12A6(9990), PTH1R(5745), CHRNB1(1140), MAN2B1(4125), ADAMTS2(9509), UPF3B(65109), LMNA(4000), RAPSN(5913), FGFR1(2260), NBN(4683), FGFR2(2263), MECP2(4204), COL11A2(1302), COL11A1(1301), SLC26A2(1836), COL5A2(1290), COL5A1(1289), SOS1(6654), FGF3(2248), IGF1(3479), CECR(1055), IGBP1(3476), KCNJ2(3759), GPC6(10082), FGD1(2245), UBE3A(7337), PQBP1(10084), PEX26(55670), BSCL2(26580), ANKH(56172), FOXC2(2303), TBCE(6905), POMGNT1(55624), VPS13B(157680), UBA1(7317), OPHN1(4983), TBX1(6899), TNNI2(7136), PEX3(8504), TNNT3(7140), NIPBL(25836), LIFR(3977), RUNX2(860), OFD1(8481), KDM5C(8242), FAM123B(139285), DOK7(285489), MOGS(7841), DPAGT1(1798), CHD7(55636), PEX19(5824), ERBB3(2065), ABCD3(5825), PLA2G6(8398), EP300(2033), PEX2(5828), TWIST1(7291), PEX5(5830), TBX15(6913), RPS6KA3(6197), STRA6(64220), ERCC6(2074), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), BUB1B(701), SOX9(6662), NSDHL(50814), FMR1(2332), DNMT3B(1789), TCOF1(6949), BMP4(652), GALNS(2588), IRF6(3664), D2HGDH(728294), LBR(3930), MKS1(54903), GNPAT(8443), RECQL4(9401), COL1A1(1277), CTSK(1513), TNFSF11(8600), HSPG2(3339), TRPS1(7227), WHCR(7467), CD96(10225), INSR(3643), EHMT1(79813), WHSC1(7468), ERCC8(1161), MUSK(4593), PAX3(5077), ZMPSTE24(10269), EYA1(2138), DHCR24(1718), MED12(9968), PTPN11(5781), DHCR7(1717), DGCR(1714), DYM(54808), SH3PXD2B(285590), WNT3(7473), PITX2(5308), CLCN7(1186), ALG1(56052), PCNT(5116), SOST(50964), TP63(8626), KRAS(3845), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), SHOX(6473), MMP2(4313), GORAB(92344), GBA(2629), TPM2(7169), AGPAT2(10555)]
ABNORMALITY OF THE JOINTS(HP:0001367)	[FBN1(2200), RET(5979), FBN2(2201), FKRP(79147), NPR2(4882), ATR(545), CCBE1(147372), TGFBR1(7046), GLRB(2743), GLRA1(2741), H19(283120), SLC16A2(6567), GLI3(2737), DCR(1637), NOG(9241), HRAS(3265), ADAMTS10(81794), CRLF1(9244), MATR3(9782), EMG1(10436), UBR1(197131), GNPTAB(79158), GLB1(2720), CHRNA1(1134), ACADS(35), NOD2(64127), NTRK1(4914), SEC23A(10484), B3GALTL(145173), ROR2(4920), SLC6A8(6535), DDR2(4921), GJB2(2706), GTF2H5(404672), SLC9A6(10479), GJA1(2697), SLC12A3(6559), CHRNG(1146), SLC12A1(6557), CHRND(1144), POR(5447), ACTA1(58), ATP7B(540), TNFRSF11A(8792), ATP7A(538), GHR(2690), KCNJ11(3767), MKKS(8195), RAPSN(5913), FGFR1(2260), FGFR3(2261), OCRL(4952), GDF5(8200), FGFR2(2263), SOS1(6654), GNS(2799), CYP27B1(1594), HOXA11(3207), RAG2(5897), TNFRSF1A(7132), RAG1(5896), KCNJ2(3759), KCNJ1(3758), TNXB(7148), TNNI2(7136), TNNT1(7138), TNNT3(7140), NIPBL(25836), TRPV4(59341), HOXD13(3239), FAM123B(139285), DOK7(285489), CUL7(9820), SMS(6611), ERBB3(2065), ERCC2(2068), TRIM32(22954), EFEMP2(30008), TBX15(6913), ERCC3(2071), GATA1(2623), SGCB(6443), PRPS1(5631), ERCC6(2074), SGCG(6445), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), SGSH(6448), MAP2K2(5605), ITGB4(3691), TREX1(11277), BTK(695), DNM2(1785), AGA(175), ABCG8(64241), ABCG5(64240), GALNS(2588), IRF6(3664), GNPAT(8443), COL1A2(1278), RECQL4(9401), ZNF469(84627), COL1A1(1277), DMD(1756), GAD1(2571), ITGA6(3655), WHCR(7467), WFS1(7466), SQSTM1(8878), WHSC1(7468), GGCX(2677), ERCC8(1161), MVK(4598), PAX3(5077), ZMPSTE24(10269), EYA1(2138), INS(3630), MED12(9968), DHCR24(1718), GPHN(10243), RMRP(6023), PPT1(5538), SLC17A3(10786), DYM(54808), GDAP1(54332), WNT7A(7476), HFE(3077), CLCN7(1186), C1R(715), CLCN5(1184), HGSNAT(138050), ALG1(56052), GCK(2645), CLCF1(23529), F13A1(2162), WISP3(8838), CHST14(113189), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), SHOX(6473), VWF(7450), ATP6V0A2(23545), WAS(7454), GBA(2629), ALPL(249), F9(2158), F10(2159), CHST3(9469), F8(2157), LEPRE1(64175), VCP(7415), BIN1(274), MYOT(9499), GUSB(2990), SALL4(57167), MYH3(4621), NSD1(64324), VDR(7421), CAPN3(825), MYF6(4618), ESCO2(157570), IKBKAP(8518), ALX3(257), MYH7(4625), PAPSS2(9060), MYH8(4626), MATN3(4148), PTCH1(5727), IHH(3549), CANT1(124583), SEPN1(57190), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), PSTPIP1(9051), LRP5(4041), PTEN(5728), UROS(7390), ABCC8(6833), AP3B1(8546), CREBBP(1387), SIL1(64374), SLC12A6(9990), NAGA(4668), RAB23(51715), PTH1R(5745), NAGLU(4669), CPT2(1376), UMOD(7369), ADAMTS2(9509), TRAPPC2(6399), COMP(1311), LMNA(4000), COL17A1(1308), COL9A3(1299), COL9A2(1298), LOX(4015), COL9A1(1297), COL11A2(1302), COL11A1(1301), CYP2R1(120227), LMX1B(4010), PRPS2(5634), SLC26A2(1836), COL5A2(1290), COL6A1(1291), SPG20(23111), CUL4B(8450), COL5A1(1289), COL7A1(1294), MEFV(4210), COL6A2(1292), LEMD3(23592), COL6A3(1293), GPC6(10082), COL2A1(1280), FUCA1(2517), COL3A1(1281), CBS(875), PQBP1(10084), PEX26(55670), NEB(4703), ANKH(56172), SLC37A4(2542), VPS13B(157680), UBA1(7317), TBX5(6910), G6PC(2538), PORCN(64840), PEX3(8504), LIFR(3977), OFD1(8481), IGHMBP2(3508), CHD7(55636), PEX19(5824), ABCD3(5825), ARSB(411), PLOD1(5351), EP300(2033), PEX2(5828), LARGE(9215), PEX5(5830), RPS6KA3(6197), SERPINF2(5345), PLP1(5354), FLNA(2316), PLOD2(5352), FLNB(2317), IDS(3423), SOX9(6662), NSDHL(50814), PMM2(5373), ANO5(203859), POMT1(10585), FMR1(2332), LAMB3(3914), PLEKHG5(57449), LAMB1(3912), LAMC2(3918), EMD(2010), PLA2G2A(5320), CFI(3426), LAMA2(3908), LAMA3(3909), LBR(3930), ARX(170302), SLC6A5(9152), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), HSPD1(3329), MMP13(4322), CDH3(1001), PTPN11(5781), L1CAM(3897), FBLN5(10516), PRG4(10216), ADAMTSL2(9719), ALG3(10195), PHEX(5251), STAT3(6774), HYAL1(3373), NLRP3(114548), TP63(8626), KRAS(3845), SEMA3E(9723), EFNB1(1947), SUMF1(285362), ANTXR2(118429), MMP2(4313), SLC34A3(142680), TPM2(7169)]
ABNORMALITY OF THE JOINTS OF THE UPPER LIMBS(HP:0009810)	[FBN1(2200), VCP(7415), FKRP(79147), FBN2(2201), MYOT(9499), NPR2(4882), ATR(545), MYH3(4621), SALL4(57167), NSD1(64324), VDR(7421), CAPN3(825), GLI3(2737), ESCO2(157570), NOG(9241), ALX3(257), HRAS(3265), MYH7(4625), MATN3(4148), CRLF1(9244), PTCH1(5727), MATR3(9782), GLB1(2720), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), B3GALTL(145173), DDR2(4921), GJB2(2706), GJA1(2697), CHRNG(1146), POR(5447), SIL1(64374), CPT2(1376), ATP7A(538), COMP(1311), LMNA(4000), RAPSN(5913), FGFR1(2260), FGFR3(2261), GDF5(8200), OCRL(4952), FGFR2(2263), CYP2R1(120227), LMX1B(4010), SLC26A2(1836), COL6A1(1291), SOS1(6654), CYP27B1(1594), HOXA11(3207), COL6A2(1292), COL6A3(1293), GPC6(10082), KCNJ2(3759), COL2A1(1280), PEX26(55670), VPS13B(157680), TBX5(6910), TNNI2(7136), PEX3(8504), TNNT3(7140), NIPBL(25836), LIFR(3977), TRPV4(59341), DOK7(285489), CHD7(55636), PEX19(5824), ABCD3(5825), PEX2(5828), LARGE(9215), TBX15(6913), PEX5(5830), TRIM32(22954), SGCB(6443), ERCC6(2074), FLNA(2316), FLNB(2317), ANO5(203859), EMD(2010), GALNS(2588), RECQL4(9401), HSPG2(3339), TRPS1(7227), CD96(10225), MMP13(4322), PAX3(5077), EYA1(2138), PTPN11(5781), RMRP(6023), WNT7A(7476), ADAMTSL2(9719), CLCN5(1184), CLCF1(23529), SUMF1(285362), TFAP2A(7020), SEMA3E(9723), SHOX(6473), MMP2(4313), ATP6V0A2(23545), SLC34A3(142680), TPM2(7169), CHST3(9469)]
ABNORMALITY OF THE KIDNEYS(HP:0000077)	[PLCE1(51196), RET(5979), FKRP(79147), ATRX(546), VPS33B(26276), CCBE1(147372), HSD17B4(3295), AVPR2(554), H19(283120), GLI3(2737), FAH(2184), KCNQ1OT1(10984), NPHS1(4868), NPHP1(4867), HRAS(3265), COQ2(27235), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GLA(2717), GPC3(2719), DYNC2H1(79659), CRTAP(10491), ATP6V1B1(525), B3GALTL(145173), ROR2(4920), FKTN(2218), SLC12A3(6559), SLC12A1(6557), POR(5447), ATP7B(540), PROKR2(128674), ATP7A(538), NPHP4(261734), CYP11A1(1583), MKKS(8195), FH(2271), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), BBS12(166379), CDKN1C(1028), FGF23(8074), CDKN2A(1029), FGF10(2255), CECR(1055), SBDS(51119), HOXA13(3209), KCNJ1(3758), CYP21A2(1589), FGA(2243), CYP11B2(1585), DTNBP1(84062), HPRT1(3251), ADA(100), KAL1(3730), BBS1(582), SMCR(6600), BBS2(583), BBS4(585), HPS1(3257), NIPBL(25836), BBS10(79738), CCND1(595), FAM123B(139285), HOXD13(3239), FASTKD2(22868), OGG1(4968), TP53(7157), AMN(81693), ERBB3(2065), TBXAS1(6916), TRIM32(22954), TBX15(6913), HNF1A(6927), ARL6(84100), PRPS1(5631), STRA6(64220), ERCC6(2074), BRCA2(675), PRODH(5625), BRAF(673), MAP2K1(5604), MAP2K2(5605), BUB1B(701), BLOC1S3(388552), HNF1B(6928), CUBN(8029), KL(9365), BTK(695), BMP4(652), XDH(7498), AFP(174), GRHPR(9380), DKC1(1736), GALNT3(2591), WT2(7491), ETFDH(2110), WT1(7490), ETFB(2109), ETFA(2108), MKS1(54903), NR0B1(190), SLC22A12(116085), AGXT(189), RECQL4(9401), JAG1(182), HPS6(79803), POMT2(29954), WFS1(7466), FLCN(201163), INSL3(3640), ERCC8(1161), CEP290(80184), EYA1(2138), PAX2(5076), MUT(4594), GPHN(10243), TRIM37(4591), SLC3A1(6519), DHCR7(1717), DGCR(1714), RXFP2(122042), SLC17A3(10786), SLC2A2(6514), AHI1(54806), SLC5A2(6524), WNT3(7473), PRCC(5546), CFH(3075), EVC(2121), SLC4A1(6521), SMARCAL1(50485), FRAS1(80144), COQ9(57017), SHH(6469), CLCN5(1184), CLCNKB(1188), C3(718), PCK1(5105), FANCA(2175), ALDOB(229), SI(6476), PCK2(5106), TFAP2A(7020), EIF2AK3(9451), VHL(7428), GATA3(2625), WAS(7454), ALPL(249), C4A(720), APTX(54840), PC(5091), MNX1(3110), CABC1(56997), PGK1(5230), CLDN19(149461), LYZ(4069), BBS5(129880), PGAM2(5224), SALL4(57167), NSD1(64324), HPS5(11234), SLC6A19(340024), RNF139(11236), AMBP(259), ESCO2(157570), IKBKAP(8518), SLC7A7(9056), MYH9(4627), SC5DL(6309), UPK3A(7380), SALL1(6299), TMEM216(51259), PEX10(5192), KIF1B(23095), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), AIP(9049), PTEN(5728), SLC17A5(26503), UMPS(7372), RAI1(10743), RAB23(51715), PTH1R(5745), CPT2(1376), UMOD(7369), SLC6A20(54716), NPHS2(7827), SDHD(6392), EVC2(132884), SDHB(6390), INPP5E(56623), HBB(3043), NBN(4683), LMX1B(4010), PRPS2(5634), PDSS2(57107), COL4A6(1288), MEFV(4210), PRTN3(5657), BSND(7809), APOA1(335), PDSS1(23590), COL2A1(1280), COL4A4(1286), COL4A5(1287), PEX26(55670), TTC8(123016), COL4A3(1285), LMNB2(84823), TBCE(6905), SLC37A4(2542), ABCC6(368), COX6B1(1340), G6PC(2538), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), SLC7A9(11136), EBP(10682), AQP2(359), OFD1(8481), CLDN16(10686), BBS7(55212), APRT(353), ALMS1(7840), SCNN1G(6340), CASP10(843), CASR(846), SCNN1A(6337), CHD7(55636), SCNN1B(6338), PEX19(5824), ABCD3(5825), SLC4A4(8671), PEX2(5828), DIRC2(84925), LARGE(9215), PEX5(5830), SCARB2(950), FLNA(2316), FLNB(2317), CTNS(1497), TTR(7276), SOX9(6662), NF1(4763), NSDHL(50814), PMM2(5373), NEU1(4758), POMT1(10585), FN1(2335), SLC36A2(153201), LPIN1(23175), LAMB2(3913), PKHD1(5314), IQCB1(9657), TSC1(7248), TSC2(7249), CFI(3426), LCAT(3931), INVS(27130), ASAH1(427), ARX(170302), ADAMTS13(11093), MBTPS2(51360), PLG(5340), CD96(10225), CDC73(79577), PTPN11(5781), GSN(2934), NPHP3(27031), FREM2(341640), PKD2(5311), MOCS2(4338), PKD1(5310), MOCS1(4337), STAR(6770), PHEX(5251), NLRP3(114548), TP63(8626), KRAS(3845), HYLS1(219844), SEMA3E(9723), MMACHC(25974), SLC34A3(142680), HPS4(89781), PNP(4860), FXYD2(486)]
ABNORMALITY OF THE KNEES(HP:0002815)	[FBN1(2200), ARSB(411), FBN2(2201), TBX4(9496), EP300(2033), ATRX(546), NPR2(4882), MYH3(4621), NSD1(64324), ERCC6(2074), DPM1(8813), FLNA(2316), TGFB1(7040), CTNS(1497), FLNB(2317), B2M(567), ESCO2(157570), NF1(4763), PAPSS2(9060), MATN3(4148), RPGRIP1L(23322), PPIB(5479), MATR3(9782), IHH(3549), ANO5(203859), GLB1(2720), SPG11(80208), KIF5A(3798), GALNS(2588), DDR2(4921), GJB2(2706), MKS1(54903), CHRNG(1146), CREBBP(1387), COL1A2(1278), RECQL4(9401), ACAN(176), RAB23(51715), PTH1R(5745), CPT2(1376), MAN2B1(4125), ATP7A(538), CTDP1(9150), TNFSF11(8600), EXT2(2132), COMP(1311), EXT1(2131), FGFR1(2260), EVC2(132884), COL9A2(1298), FGFR3(2261), GDF5(8200), OCRL(4952), MMP13(4322), LMX1B(4010), RMRP(6023), SPG20(23111), DYM(54808), GPC6(10082), SH3PXD2B(285590), COL2A1(1280), WNT7A(7476), EVC(2121), VPS13B(157680), PCNT(5116), TNFRSF11B(4982), WISP3(8838), EIF2AK3(9451), LIFR(3977), EBP(10682), TPM2(7169), GNPTG(84572), CHST3(9469)]
ABNORMALITY OF THE LABIA(HP:0000058)	[BSCL2(26580), SNRPN(6638), LMNA(4000), FGFR1(2260), TP63(8626), PORCN(64840), IRF6(3664), ATIC(471), FGFR2(2263), B3GALTL(145173), ROR2(4920), SEMA3E(9723), NIPBL(25836), ESCO2(157570), NDN(4692), CHRNG(1146), POR(5447), AGPAT2(10555), CHD7(55636)]
ABNORMALITY OF THE LACRIMAL DUCT(HP:0000614)	[TCOF1(6949), NOP10(55505), EP300(2033), TWIST1(7291), TP63(8626), FGFR3(2261), NHP2(55651), FGFR2(2263), TFAP2A(7020), EYA1(2138), FGF10(2255), CREBBP(1387), UBR1(197131)]
ABNORMALITY OF THE LARGE INTESTINE(HP:0002250)	[RET(5979), BBS5(129880), TRIM32(22954), RPS6KA3(6197), SALL4(57167), GATA1(2623), ARL6(84100), PHOX2B(8929), CCBE1(147372), EDN3(1908), CIITA(4261), DCR(1637), EDNRB(1910), SOX10(6663), ITGB2(3689), HRAS(3265), STK11(6794), SMAD4(4089), UBR1(197131), BBS9(27241), SALL1(6299), DKC1(1736), CYBA(1535), PTEN(5728), SLC6A8(6535), RFX5(5993), MKS1(54903), SLC9A6(10479), RFXAP(5994), ASCL1(429), MBTPS2(51360), VANGL1(81839), RECQL4(9401), KIAA1279(26128), BMPR1A(657), ZFYVE26(23503), MKKS(8195), ZEB2(9839), CEP290(80184), BBS12(166379), CDKN2A(1029), PAX3(5077), NCF2(4688), BDNF(627), RMRP(6023), APC(324), DHCR7(1717), L1CAM(3897), NCF1(653361), PKD2(5311), PKD1(5310), TTC8(123016), GDNF(2668), MSH2(4436), BBS1(582), BBS2(583), MLH1(4292), BBS4(585), RFXANK(8625), CYBB(1536), NIPBL(25836), TFAP2A(7020), BBS10(79738), CFTR(1080), BBS7(55212), MNX1(3110), TP53(7157)]
ABNORMALITY OF THE LARYNX(HP:0001600)	[MYCN(4613), CHAT(1103), MYH3(4621), ANCR(282), NSD1(64324), MAPT(4137), DCTN1(1639), GLI3(2737), EDA(1896), CDKL5(6792), HRAS(3265), AURKC(6795), CRLF1(9244), MATR3(9782), GNPTAB(79158), ECM1(1893), CHRNA1(1134), COLQ(8292), SEPN1(57190), CHRNE(1145), CHRND(1144), POR(5447), RAI1(10743), ACTA1(58), CHRNB1(1140), PTH1R(5745), DBH(1621), GHR(2690), UCHL1(7345), SNRPN(6638), UPF3B(65109), RAPSN(5913), SDHD(6392), SDHC(6391), MECP2(4204), POLG(5428), SLC26A2(1836), CUL4B(8450), NDN(4692), LEMD3(23592), UBE3A(7337), VPS13B(157680), SMCR(6600), TBP(6908), TBX1(6899), PORCN(64840), NIPBL(25836), LIFR(3977), SDHAF2(54949), TRPV4(59341), PANK2(80025), HOXD13(3239), FAM123B(139285), IGHMBP2(3508), AR(367), SMS(6611), PAX8(7849), SLC19A2(10560), ERCC4(2072), TBX3(6926), MGP(4256), PLP1(5354), FLNA(2316), CTNS(1497), FLNB(2317), IDS(3423), AGA(175), TSPYL1(7259), TSHB(7252), SRD5A2(6716), BLM(641), LAMA3(3909), MKS1(54903), LBR(3930), ASAH1(427), PLG(5340), TRPS1(7227), HSPG2(3339), MUSK(4593), KRT17(3872), MED12(9968), TRIM37(4591), DGCR(1714), GDAP1(54332), FREM2(341640), TRH(7200), SMARCAL1(50485), KRT6B(3854), FRAS1(80144), ADAMTSL2(9719), MFN2(9927), PCNT(5116), HYLS1(219844), TFAP2A(7020), SERPING1(710), GBA(2629), ALPL(249)]
ABNORMALITY OF THE LENS(HP:0000517)	[FBN1(2200), ADAMTSL4(54507), FBN2(2201), FKRP(79147), RET(5979), BBS5(129880), SALL4(57167), TGFBI(7045), IKBKG(8517), ESCO2(157570), ALX3(257), GCM2(9247), GUCY2D(3000), MYH9(4627), ADAMTS10(81794), PTCH1(5727), BBS9(27241), SC5DL(6309), UQCRB(7381), MYO7A(4647), RHO(6010), PEX10(5192), KIF1B(23095), PTH(5741), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), SEC23A(10484), PEX7(5191), LRP5(4041), B3GALTL(145173), PTEN(5728), NR2E3(10002), C10orf2(56652), FKTN(2218), GTF2H5(404672), GJA8(2703), RAB3GAP2(25782), HSF4(3299), GJA1(2697), CREBBP(1387), SIL1(64374), SUOX(6821), ACTB(60), MKKS(8195), HCCS(3052), CNGB3(54714), SDHD(6392), SDHB(6390), OCRL(4952), INPP5E(56623), BCS1L(617), BBS12(166379), POLG(5428), COL11A1(1301), KCNJ13(3769), LMX1B(4010), COL18A1(80781), COL5A2(1290), COL4A6(1288), COL5A1(1289), COL7A1(1294), NDP(4693), CYP27A1(1593), COL4A1(1282), COL2A1(1280), CBS(875), COL4A5(1287), OAT(4942), PQBP1(10084), TTC8(123016), PEX26(55670), FTL(2512), ABHD5(51099), CNBP(7555), GNAS(2778), POMGNT1(55624), FOXE3(2301), BBS1(582), BBS2(583), BBS4(585), PORCN(64840), PEX3(8504), SIX6(4990), EBP(10682), TAP1(6890), TAP2(6891), BBS10(79738), BBS7(55212), TAPBP(6892), ALMS1(7840), CASR(846), PEX19(5824), ABCD3(5825), EP300(2033), DMPK(1760), PEX2(5828), ARSE(415), RP2(6102), LARGE(9215), ERCC2(2068), TRIM32(22954), PEX5(5830), ERCC3(2071), ARL6(84100), ERCC6(2074), FLNB(2317), BUB1B(701), GALT(2592), FAM126A(84668), UQCRQ(27089), AASS(10157), POMT1(10585), PAH(5053), LAMB2(3913), BCOR(54880), DKC1(1736), GALK1(2584), ETFDH(2110), NF2(4771), ETFB(2109), BFSP2(8419), ETFA(2108), MKS1(54903), GNPAT(8443), RPE65(6121), RECQL4(9401), COL1A1(1277), OPA3(80207), RAB3GAP1(22930), POMT2(29954), CTDP1(9150), HSPG2(3339), GJB6(10804), NHS(4810), PAX6(5080), ERCC8(1161), FZD4(8322), CEP290(80184), CRYBA1(1411), GPHN(10243), CRYAB(1410), DHCR7(1717), WRN(7486), WNT3(7473), MOCS2(4338), PITX3(5309), MOCS1(4337), CRYGD(1421), PHGDH(26227), ITM2B(9445), BEST1(7439), VCAN(1462), TFAP2A(7020), VHL(7428)]
ABNORMALITY OF THE LINE OF SCHWALBE(HP:0008048)	[PTEN(5728), PITX2(5308)]
ABNORMALITY OF THE LIVER(HP:0001392)	[FBP1(2203), MMAA(166785), TINF2(26277), VPS33B(26276), HSD17B4(3295), H19(283120), DPM1(8813), SLC11A2(4891), MCCC1(56922), DNAJC19(131118), KCNQ1OT1(10984), SLC22A5(6584), FAH(2184), GNMT(27232), NPC1(4864), RPGRIP1L(23322), CTSA(5476), BBS9(27241), GNPTAB(79158), GLB1(2720), ACADM(34), FECH(2235), PPARG(5468), ACADL(33), GPC3(2719), LYST(1130), ACADVL(37), B3GALTL(145173), RHAG(6005), ACOX1(51), RFX5(5993), RFXAP(5994), C20orf7(79133), MPV17(4358), ATP7B(540), AXIN1(8312), MKKS(8195), BCS1L(617), BBS12(166379), CDKN1C(1028), POLG(5428), GNS(2799), CECR(1055), SBDS(51119), RAG2(5897), TNFRSF1A(7132), RAG1(5896), ACVRL1(94), FGA(2243), ABHD5(51099), ADA(100), BBS1(582), BBS2(583), BBS4(585), NDUFA11(126328), NDUFAF4(29078), CYBB(1536), BBS10(79738), CCND1(595), CFTR(1080), FASTKD2(22868), TPI1(7167), HPD(3242), TP53(7157), SMPD1(6609), BTD(686), DMPK(1760), TRIM32(22954), ARL6(84100), ERCC4(2072), ERCC6(2074), HMGCL(3155), MTM1(4534), SGSH(6448), TMEM67(91147), HNF1B(6928), GALT(2592), TREX1(11277), ABCC2(1244), BTK(695), TCIRG1(10312), PRKCSH(5589), GALE(2582), AGA(175), ABCG8(64241), ABCG5(64240), AFP(174), GALNS(2588), DKC1(1736), GALK1(2584), ETFDH(2110), ETFB(2109), ETFA(2108), BPGM(669), MKS1(54903), AGL(178), RECQL4(9401), MRPS16(51021), JAG1(182), WHCR(7467), HK1(3098), INSR(3643), WHSC1(7468), ACAD9(28976), ERCC8(1161), MVK(4598), CEP290(80184), MUT(4594), DGUOK(1716), CA2(760), TRIM37(4591), DHCR7(1717), DGCR(1714), NCF1(653361), SLC17A3(10786), HEXB(3074), EPM2A(7957), HFE(3077), SLC4A1(6521), HGSNAT(138050), ALG1(56052), TERC(7012), TERT(7015), PCK1(5105), ALDOB(229), PCK2(5106), TF(7018), ALDOA(226), EIF2AK3(9451), VHL(7428), PCCB(5096), PPP1R3A(5506), GBA(2629), GBE1(2632), PC(5091), PCCA(5095), GCDH(2639), CPT1A(1374), GUSB(2990), CPOX(1371), LYZ(4069), SH2D1A(4068), BBS5(129880), CLDN1(9076), NSD1(64324), ANK1(286), ESCO2(157570), ABCB4(5244), SLC7A7(9056), GUCY2D(3000), STK11(6794), AURKC(6795), GNE(10020), SC5DL(6309), UQCRB(7381), SLC25A20(788), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), UROD(7389), UROS(7390), IL2RG(3561), C10orf2(56652), PFKM(5213), AP3B1(8546), SLC17A5(26503), SEC63(11231), ATP8B1(5205), NAGLU(4669), CPT2(1376), MAN2B1(4125), LMNA(4000), KRIT1(889), ALG6(29929), HBB(3043), INPP5E(56623), APOE(348), NHLRC1(378884), AMACR(23600), PDGFRL(5157), APOC2(344), PDGFRA(5156), AIRE(326), NCF2(4688), PSAP(5660), LPL(4023), MEFV(4210), NDUFA1(4694), APOA1(335), FUCA1(2517), CBS(875), PEX26(55670), TTC8(123016), BSCL2(26580), SLC37A4(2542), SLC39A4(55630), COX6B1(1340), G6PD(2539), G6PC(2538), TBX1(6899), PEX3(8504), NDUFS1(4719), NDUFV1(4723), LIPA(3988), NDUFS2(4720), HADHB(3032), HADH(3033), BBS7(55212), NDUFS6(4726), HBA1(3039), NDUFS4(4724), ALMS1(7840), MOGS(7841), CDAN1(146059), FAS(355), GAA(2548), CASP10(843), CASP8(841), CASR(846), UGT1A1(54658), HADHA(3030), SLC25A15(10166), PEX19(5824), ARSA(410), ABCD3(5825), ARSB(411), SLC25A13(10165), CD40LG(959), PEX2(5828), PEX5(5830), PYGL(5836), CTNNB1(1499), NDUFAF2(91942), CIITA(4261), CTNS(1497), IDS(3423), NPC2(10577), ENG(2022), UQCRQ(27089), PMM2(5373), ABCB11(8647), NEU1(4758), SPTB(6710), MET(4233), SPTA1(6708), GPI(2821), NDUFAF3(25915), LRPPRC(10128), PKLR(5313), PKHD1(5314), AKR1D1(6718), ASL(435), SP110(3431), CYBA(1535), LBR(3930), ASAH1(427), GFM1(85476), TNFSF11(8600), CD96(10225), PIK3CA(5290), MPI(4351), NPHP3(27031), PKD2(5311), PKD1(5310), ADAMTSL2(9719), MMAB(326625), DCLRE1C(64421), PHKA2(5256), PHKB(5257), RFXANK(8625), CSF3R(1441), SERPINA1(5265), AGPAT2(10555)]
ABNORMALITY OF THE LOWER LIMBS(HP:0002814)	[SH3TC2(79628), FBN1(2200), RET(5979), FKRP(79147), FBN2(2201), ATRX(546), NPR2(4882), ATR(545), SACS(26278), FBLN1(2192), CCBE1(147372), TGFBR1(7046), GAN(8139), HSD17B4(3295), DCTN1(1639), H19(283120), DPM1(8813), TGFB1(7040), SLC16A2(6567), GLI3(2737), B2M(567), NOG(9241), HRAS(3265), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), PPIB(5479), MATR3(9782), EMG1(10436), GNPTAB(79158), BBS9(27241), GLB1(2720), SBF2(81846), GPC3(2719), LYST(1130), HSPB1(3315), KIF5A(3798), NTRK1(4914), DYSF(8291), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), GJB1(2705), SLC6A8(6535), DDR2(4921), GJB2(2706), SLC9A6(10479), RAB3GAP2(25782), MPZ(4359), GJA1(2697), CHRNG(1146), POR(5447), ACTB(60), ATP7A(538), MKKS(8195), SNRPN(6638), FBXO7(25793), UPF3B(65109), RAPSN(5913), NDRG1(10397), FGFR1(2260), FGFR3(2261), OCRL(4952), GDF5(8200), CDKN1B(1027), FGFR2(2263), FGF23(8074), POLG(5428), BBS12(166379), FGF14(2259), FGF10(2255), HSPB8(26353), CYP27B1(1594), SBDS(51119), KCNJ2(3759), HOXA13(3209), FGD1(2245), ACVR1(90), HPRT1(3251), GNAS(2778), TRIP11(9321), TNFRSF11B(4982), KAL1(3730), BBS1(582), BBS2(583), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), WNK1(65125), TRPV4(59341), BBS10(79738), KDM5C(8242), FAM123B(139285), HOXD13(3239), DOK7(285489), HOXD10(3236), CUL7(9820), GNPTG(84572), CTSC(1075), PMP22(5376), SMS(6611), ATL1(51062), TRIM32(22954), TBX15(6913), CCT5(22948), ARL6(84100), ERCC4(2072), TBX3(6926), PRPS1(5631), ERCC6(2074), SGCA(6442), KIAA0196(9897), SGCG(6445), BRAF(673), B4GALT7(11285), GARS(2617), MTM1(4534), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), HNF1B(6928), ALS2(57679), DNM2(1785), BMP4(652), SPG11(80208), BCOR(54880), GALNS(2588), IRF6(3664), MTMR2(8898), FGD4(121512), PRX(57716), MKS1(54903), PRKAR1A(5573), GNPAT(8443), COL1A2(1278), RECQL4(9401), ACAN(176), COL1A1(1277), DMD(1756), BMPR1B(658), EXT2(2132), GJB6(10804), ZFYVE26(23503), WHCR(7467), INSR(3643), WHSC1(7468), EXT1(2131), CEP290(80184), ZMPSTE24(10269), DHCR24(1718), WNT10B(7480), MED12(9968), RMRP(6023), HGD(3081), DHCR7(1717), DYM(54808), SH3PXD2B(285590), GDAP1(54332), WNT7A(7476), EVC(2121), SMARCAL1(50485), CLCN5(1184), MFN2(9927), CLCF1(23529), PCNT(5116), SHFM1(7979), WISP3(8838), CHST14(113189), EIF2AK3(9451), SHOX(6473), ALDH3A2(224), DES(1674), ATP6V0A2(23545), GBA(2629), ALPL(249), CHST3(9469), APTX(54840), LEPRE1(64175), MYCN(4613), TBX4(9496), MYOT(9499), GUSB(2990), BBS5(129880), SETX(23064), MYH3(4621), SALL4(57167), NSD1(64324), VDR(7421), LMBR1(64327), FERMT1(55612), ESCO2(157570), MYH7(4625), PAPSS2(9060), MATN3(4148), MYH8(4626), PTCH1(5727), AURKC(6795), RAB7A(7879), GNE(10020), IHH(3549), SC5DL(6309), CANT1(124583), NIPA1(123606), SALL1(6299), YARS(8565), TMEM216(51259), PEX10(5192), KIF1B(23095), PEX14(5195), PEX13(5194), PEX1(5189), AIP(9049), PEX7(5191), LRP5(4041), PFKM(5213), SLC17A5(26503), LITAF(9516), CREBBP(1387), SIL1(64374), SLC12A6(9990), TCAP(8557), RAB23(51715), PTH1R(5745), CPT2(1376), MAN2B1(4125), ADAMTS2(9509), TRAPPC2(6399), COMP(1311), LMNA(4000), COL17A1(1308), EVC2(132884), COL9A2(1298), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), CYP2R1(120227), LMX1B(4010), PRPS2(5634), COL5A2(1290), SLC26A2(1836), COL6A1(1291), SPG20(23111), CUL4B(8450), COL5A1(1289), NDN(4692), PHF6(84295), DSP(1832), COL6A2(1292), TREM2(54209), COL6A3(1293), GPC6(10082), COL2A1(1280), MEN1(4221), COL3A1(1281), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), ANKH(56172), TBCE(6905), VPS13B(157680), CAV3(859), PORCN(64840), PEX3(8504), LIFR(3977), EBP(10682), OFD1(8481), PANK2(80025), IGHMBP2(3508), BBS7(55212), ALMS1(7840), TYROBP(7305), AR(367), PEX19(5824), ABCD3(5825), PLOD1(5351), ARSB(411), EP300(2033), PEX2(5828), TWIST1(7291), LARGE(9215), PEX5(5830), NEFL(4747), RPS6KA3(6197), MGP(4256), SPG7(6687), PLP1(5354), FLNA(2316), PLOD2(5352), FLNB(2317), CTNS(1497), IDS(3423), SOX10(6663), SOX9(6662), NF1(4763), TTN(7273), SLC35D1(23169), ANO5(203859), FMR1(2332), LAMB3(3914), PLEKHG5(57449), LAMC2(3918), EMD(2010), LAMA3(3909), LBR(3930), LAMP2(3920), MGAT2(4247), CTDP1(9150), TNFSF11(8600), HSPG2(3339), MBD5(55777), TRPS1(7227), RYR1(6261), CD96(10225), NGF(4803), MMP13(4322), CRYAB(1410), EGR2(1959), L1CAM(3897), PITX1(5307), FXN(2395), ADAMTSL2(9719), PHEX(5251), ALG3(10195), TP63(8626), KRAS(3845), HYLS1(219844), EFNB1(1947), SUMF1(285362), SSTR5(6755), PHYH(5264), MMP2(4313), SLC34A3(142680), AGPAT2(10555), TPM2(7169), TPM3(7170), PVRL1(5818), SPTLC1(10558)]
ABNORMALITY OF THE LUNGS(HP:0002088)	[FBN1(2200), RET(5979), FKRP(79147), FBP1(2203), CHAT(1103), MMAA(166785), TINF2(26277), SPINK5(11005), CCBE1(147372), DCTN1(1639), DPM1(8813), MCCC1(56922), GLI3(2737), SLC35C1(55343), GLE1(2733), BBS9(27241), GNPTAB(79158), GLB1(2720), CHRNA1(1134), TK2(7084), COLQ(8292), GLA(2717), GPC3(2719), NKX2-1(7080), CRTAP(10491), DDR2(4921), RFX5(5993), GTF2H5(404672), RFXAP(5994), MPZ(4359), GJA1(2697), C20orf7(79133), CHRNG(1146), CHRNE(1145), CHRND(1144), CHRNB1(1140), NDUFS7(374291), MKKS(8195), RAPSN(5913), FGFR1(2260), FGFR3(2261), FGFR2(2263), BCS1L(617), BBS12(166379), POLG(5428), SBDS(51119), RAG2(5897), CYP27A1(1593), RAG1(5896), ACVRL1(94), DTNBP1(84062), ACVR1(90), C8orf38(137682), SMN1(6606), ADA(100), SFTPA2(729238), BBS1(582), BBS2(583), FOXF1(2294), BBS4(585), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), CYBB(1536), NIPBL(25836), BCHE(590), TRPV4(59341), BBS10(79738), CCND1(595), CFTR(1080), DOK7(285489), FASTKD2(22868), SMPD1(6609), ERBB3(2065), DMPK(1760), ERCC2(2068), TRIM32(22954), EFEMP2(30008), SFTPB(6439), ERCC3(2071), TBX21(30009), ARL6(84100), STRA6(64220), SGCG(6445), PROC(5624), PROS1(5627), MTM1(4534), BLOC1S3(388552), BTK(695), DNMT3B(1789), PRKCSH(5589), GALNS(2588), DKC1(1736), DLD(1738), BLM(641), ETFDH(2110), ETFB(2109), ETFA(2108), MKS1(54903), DOCK8(81704), COL1A1(1277), DMD(1756), HPS6(79803), ISCU(23479), BMPR2(659), FLCN(201163), TNFRSF13B(23495), CEP290(80184), MUSK(4593), ZMPSTE24(10269), DHCR7(1717), NCF1(653361), SLC17A3(10786), FAM20C(56975), CYB5R3(1727), WNT3(7473), HFE(3077), FRAS1(80144), TERC(7012), TERT(7015), VHL(7428), WAS(7454), GBA(2629), VRK1(7443), SCN5A(6331), BBS5(129880), NAGS(162417), HPS5(11234), SLC7A7(9056), COX15(1355), SMAD4(4089), SMAD9(4093), UPK3A(7380), SLC25A20(788), SEPN1(57190), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), PTEN(5728), IL2RG(3561), SURF1(6834), AP3B1(8546), SEC63(11231), SLC12A6(9990), UNG(7374), ICOS(29851), CPT2(1376), ADAMTS2(9509), LOX(4015), NBN(4683), SDHA(6389), MECP2(4204), COL11A2(1302), TSFM(10102), PDGFRA(5156), SLC26A2(1836), NCF2(4688), PSAP(5660), COL6A1(1291), COL4A6(1288), MEFV(4210), NDUFA1(4694), COL6A2(1292), COL6A3(1293), NDUFA2(4695), COL2A1(1280), COL3A1(1281), DSC2(1824), PEX26(55670), TTC8(123016), NEB(4703), SLC37A4(2542), UBA1(7317), COX6B1(1340), HPS3(84343), TBX1(6899), PEX3(8504), NDUFS1(4719), LIFR(3977), RUNX2(860), TAP1(6890), NDUFS3(4722), TAP2(6891), NDUFV1(4723), NDUFS2(4720), HADHB(3032), LIPA(3988), OFD1(8481), IGHMBP2(3508), BBS7(55212), NDUFS6(4726), TAPBP(6892), NDUFS4(4724), ALMS1(7840), GAA(2548), NDUFS8(4728), CASP8(841), CASR(846), HADHA(3030), PEX19(5824), PLOD1(5351), PEX5(5830), FLG(2312), SLC34A2(10568), FLNC(2318), NDUFAF2(91942), FLNA(2316), CIITA(4261), FLNB(2317), IDS(3423), SOX9(6662), NPC2(10577), ENG(2022), NSDHL(50814), FMO3(2328), LAMB1(3912), ELN(2006), NDUFAF3(25915), PKHD1(5314), CYBA(1535), CTSD(1509), INVS(27130), LBR(3930), ASAH1(427), ARX(170302), HSPG2(3339), RYR1(6261), DNAI1(27019), SERPINC1(462), CRYAB(1410), EGR2(1959), FBLN5(10516), NPHP3(27031), FREM2(341640), MMAB(326625), STAT3(6774), DCLRE1C(64421), ALDH7A1(501), HYLS1(219844), RFXANK(8625), AICDA(57379), SERPINA1(5265), HPS4(89781), PNP(4860), TPM3(7170)]
ABNORMALITY OF THE LYMPH NODES(HP:0002733)	[CD40(958), CD40LG(959), LYST(1130), SH2D1A(4068), DCLRE1C(64421), TNFRSF13B(23495), MVK(4598), SP110(3431), CYBA(1535), CYBB(1536), AICDA(57379), NCF2(4688), NCF1(653361), RAG2(5897), RAG1(5896), PNP(4860), FAS(355), CASP10(843), BTK(695), UNG(7374), CASP8(841), ICOS(29851), SMPD1(6609)]
ABNORMALITY OF THE MACULA(HP:0001103)	[ZFYVE26(23503), CLDN19(149461), PAX6(5080), CNGB3(54714), ATXN7(6314), CDH3(1001), COL18A1(80781), PRPH2(5961), PPT1(5538), MITF(4286), RLBP1(6017), HEXA(3073), ABCA4(24), ELOVL4(6785), LYST(1130), BEST1(7439), ABCC6(368), PROM1(8842), TIMP3(7078), NR2E3(10002), ALDH3A2(224), TYR(7299), CLN3(1201), CACNA1F(778), SMPD1(6609)]
ABNORMALITY OF THE MALE GENITALIA(HP:0010461)	[FBN1(2200), DCX(1641), ATRX(546), PROK2(60675), ATR(545), CCBE1(147372), GLRB(2743), HSD17B3(3293), GLRA1(2741), H19(283120), DNAJC19(131118), GLI3(2737), KCNQ1OT1(10984), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), GLB1(2720), GPC3(2719), SEC23A(10484), B3GALTL(145173), ROR2(4920), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), POR(5447), CYP11A1(1583), MKKS(8195), SNRPN(6638), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), BBS12(166379), POLG(5428), CDKN1C(1028), FGF10(2255), SOS1(6654), POLA1(5422), GNRH1(2796), HOXA13(3209), FGD1(2245), CYP21A2(1589), CYP17A1(1586), CYP11B1(1584), HPRT1(3251), FOXC2(2303), BBS1(582), KAL1(3730), BBS2(583), OPHN1(4983), BBS4(585), NIPBL(25836), BBS10(79738), CCND1(595), KDM5C(8242), HOXD13(3239), DOK7(285489), CUL7(9820), SMS(6611), DMPK(1760), TRIM32(22954), TBX15(6913), EFEMP2(30008), ARL6(84100), TBX3(6926), STRA6(64220), ERCC6(2074), MTM1(4534), BUB1B(701), HNF1B(6928), BTK(695), TCOF1(6949), BMP4(652), AGA(175), SOX18(54345), GALNS(2588), DKC1(1736), IRF6(3664), BLM(641), WT1(7490), MKS1(54903), KISS1R(84634), NR0B1(190), COL1A2(1278), RECQL4(9401), COL1A1(1277), RAB3GAP1(22930), WHCR(7467), WFS1(7466), INSR(3643), WHSC1(7468), INSL3(3640), ERCC8(1161), CEP290(80184), ZMPSTE24(10269), MED12(9968), DHCR24(1718), GPHN(10243), DHCR7(1717), RXFP2(122042), DGCR(1714), WNT3(7473), WNT7A(7476), EVC(2121), HFE(3077), PHGDH(26227), FRAS1(80144), PCNT(5116), F13A1(2162), FANCA(2175), TFAP2A(7020), VHL(7428), ATP6V0A2(23545), LEPRE1(64175), GUSB(2990), BBS5(129880), MYH3(4621), NELF(26012), NSD1(64324), FERMT1(55612), ESCO2(157570), GNE(10020), AMH(268), AMHR2(269), SC5DL(6309), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PTEN(5728), DCAF17(80067), CREBBP(1387), RAB23(51715), MAN2B1(4125), ADAMTS2(9509), HCCS(3052), EVC2(132884), LOX(4015), INPP5E(56623), TAC3(6866), MECP2(4204), TACR3(6870), COL5A2(1290), SLC26A2(1836), CUL4B(8450), COL5A1(1289), NDN(4692), PHF6(84295), DSP(1832), GPC6(10082), COL2A1(1280), COL3A1(1281), CBS(875), TTC8(123016), PEX26(55670), PQBP1(10084), TBCE(6905), LHCGR(3973), LHB(3972), UBA1(7317), SLC39A4(55630), TBX1(6899), PORCN(64840), PEX3(8504), OFD1(8481), BBS7(55212), DHH(50846), AR(367), CHD7(55636), PEX19(5824), ARSB(411), PLOD1(5351), EP300(2033), ABCD3(5825), PEX2(5828), STS(412), PEX5(5830), RPS6KA3(6197), FLNA(2316), PLOD2(5352), FLNB(2317), IDS(3423), MID1(4281), SOX2(6657), FLT4(2324), NEU1(4758), FMR1(2332), ELN(2006), TSPYL1(7259), SRD5A2(6716), ARX(170302), MBTPS2(51360), SLC6A5(9152), PLEC(5339), HSPG2(3339), CD96(10225), ATM(472), PTPN11(5781), FBLN5(10516), FREM2(341640), PITX2(5308), STAR(6770), TP63(8626), HYLS1(219844), EFNB1(1947), SEMA3E(9723), TPM2(7169)]
ABNORMALITY OF THE MANDIBLE(HP:0000277)	[MYCN(4613), FBN1(2200), FKRP(79147), FBN2(2201), TBX4(9496), ATRX(546), SCN9A(6335), ATR(545), CCBE1(147372), TGFBR1(7046), MYH3(4621), NSD1(64324), ANCR(282), HSD17B4(3295), H19(283120), TGFB1(7040), GLI3(2737), ESCO2(157570), GLE1(2733), CDKL5(6792), MYH8(4626), PTCH1(5727), EMG1(10436), GNPTAB(79158), GLB1(2720), SC5DL(6309), CHRNA1(1134), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), B3GALTL(145173), ROR2(4920), SLC6A8(6535), DDR2(4921), SLC9A6(10479), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRNE(1145), CHRND(1144), CREBBP(1387), PUS1(80324), PTH1R(5745), CHRNB1(1140), MAN2B1(4125), ADAMTS2(9509), UPF3B(65109), LMNA(4000), RAPSN(5913), FGFR1(2260), NBN(4683), MECP2(4204), FGFR2(2263), COL11A2(1302), COL11A1(1301), SLC26A2(1836), SOS1(6654), FGF3(2248), IGF1(3479), CECR(1055), IGBP1(3476), KCNJ2(3759), GPC6(10082), UBE3A(7337), PQBP1(10084), PEX26(55670), BSCL2(26580), ANKH(56172), FOXC2(2303), TBCE(6905), POMGNT1(55624), VPS13B(157680), UBA1(7317), OPHN1(4983), TBX1(6899), TNNI2(7136), PEX3(8504), TNNT3(7140), NIPBL(25836), LIFR(3977), RUNX2(860), OFD1(8481), KDM5C(8242), FAM123B(139285), DOK7(285489), MOGS(7841), DPAGT1(1798), CHD7(55636), PEX19(5824), ERBB3(2065), ABCD3(5825), PLA2G6(8398), EP300(2033), PEX2(5828), PEX5(5830), TBX15(6913), RPS6KA3(6197), STRA6(64220), ERCC6(2074), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), BUB1B(701), SOX9(6662), NSDHL(50814), FMR1(2332), DNMT3B(1789), TCOF1(6949), BMP4(652), GALNS(2588), IRF6(3664), D2HGDH(728294), LBR(3930), MKS1(54903), GNPAT(8443), RECQL4(9401), COL1A1(1277), CTSK(1513), TNFSF11(8600), HSPG2(3339), TRPS1(7227), WHCR(7467), CD96(10225), EHMT1(79813), INSR(3643), WHSC1(7468), ERCC8(1161), MUSK(4593), PAX3(5077), ZMPSTE24(10269), EYA1(2138), MED12(9968), PTPN11(5781), DHCR24(1718), DHCR7(1717), DGCR(1714), DYM(54808), SH3PXD2B(285590), WNT3(7473), CLCN7(1186), ALG1(56052), PCNT(5116), SOST(50964), KRAS(3845), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), SHOX(6473), MMP2(4313), GORAB(92344), GBA(2629), TPM2(7169), AGPAT2(10555)]
ABNORMALITY OF THE MASTOID(HP:0000264)	[RAG2(5897), RAG1(5896), NBN(4683)]
ABNORMALITY OF THE MAXILLA(HP:0000326)	[FBN1(2200), EP300(2033), UPF3B(65109), TWIST1(7291), FGFR1(2260), ANCR(282), FGFR2(2263), MECP2(4204), PAX3(5077), FLNB(2317), MED12(9968), COL5A2(1290), EDA(1896), COL5A1(1289), ALX3(257), CDKL5(6792), ADAMTS10(81794), FGD1(2245), KCNJ2(3759), UBE3A(7337), PITX2(5308), VPS13B(157680), TP63(8626), IRF6(3664), PTEN(5728), LBR(3930), RAB3GAP2(25782), KDM5C(8242), MMP2(4313), CREBBP(1387), SLC12A6(9990), COL1A1(1277)]
ABNORMALITY OF THE MENINGES(HP:0010651)	[PEX19(5824), ARSE(415), PEX10(5192), GGCX(2677), PEX5(5830), PEX14(5195), PEX13(5194), ERCC8(1161), PEX1(5189), AGPS(8540), PEX7(5191), MGP(4256), PEX3(8504), ERCC6(2074), SUMF1(285362), DDR2(4921), EBP(10682), LBR(3930), THRB(7068), NSDHL(50814), NEU1(4758), PEX26(55670)]
ABNORMALITY OF THE METACARPAL BONES(HP:0001163)	[FBN1(2200), GUSB(2990), NPR2(4882), RPS6KA3(6197), SALL4(57167), FBLN1(2192), LMBR1(64327), FLNA(2316), GLI3(2737), FLNB(2317), NOG(9241), ADAMTS10(81794), IHH(3549), GLB1(2720), CANT1(124583), SALL1(6299), GALNS(2588), LRP5(4041), B3GALTL(145173), ROR2(4920), DDR2(4921), LBR(3930), RAB3GAP2(25782), SIL1(64374), BMPR1B(658), TRPS1(7227), EXT2(2132), WHCR(7467), CD96(10225), COMP(1311), WHSC1(7468), EXT1(2131), COL9A3(1299), FGFR1(2260), GDF5(8200), COL11A2(1302), SLC26A2(1836), PTPN11(5781), RMRP(6023), SOS1(6654), DYM(54808), HOXA13(3209), KCNJ2(3759), COL2A1(1280), WNT7A(7476), ACVR1(90), ADAMTSL2(9719), GNAS(2778), VPS13B(157680), PCNT(5116), PORCN(64840), RUNX2(860), HOXD13(3239), MMP2(4313), CHST3(9469), LEPRE1(64175)]
ABNORMALITY OF THE METAPHYSES(HP:0000944)	[FBN1(2200), ARSB(411), NPR2(4882), NSD1(64324), VDR(7421), FLNA(2316), CTNS(1497), MATN3(4148), SLC35D1(23169), IHH(3549), GNPTAB(79158), CANT1(124583), GLB1(2720), DYNC2H1(79659), GALNS(2588), LRP5(4041), PEX7(5191), DDR2(4921), LBR(3930), GJA1(2697), SLC17A5(26503), PTH1R(5745), BMPR1B(658), ATP7A(538), HSPG2(3339), COMP(1311), FGFR3(2261), MMP13(4322), COL11A2(1302), CYP2R1(120227), RMRP(6023), CYP27B1(1594), SBDS(51119), DYM(54808), SH3PXD2B(285590), COL2A1(1280), PRG4(10216), ACVR1(90), ANKH(56172), PHEX(5251), CLCN5(1184), PCNT(5116), WISP3(8838), TFAP2A(7020), LIFR(3977), TRPV4(59341), MMP2(4313), ALPL(249), SLC34A3(142680), CASR(846)]
ABNORMALITY OF THE METATARSAL BONES(HP:0001832)	[FBN1(2200), PEX19(5824), FBN2(2201), ABCD3(5825), GUSB(2990), NPR2(4882), PEX2(5828), TWIST1(7291), PEX5(5830), MYH3(4621), FBLN1(2192), NSD1(64324), LMBR1(64327), ERCC6(2074), FLNA(2316), FLNB(2317), MYH8(4626), CANT1(124583), SALL1(6299), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), LRP5(4041), PEX7(5191), B3GALTL(145173), DDR2(4921), RAB3GAP2(25782), SIL1(64374), RAB23(51715), TRPS1(7227), WHCR(7467), WHSC1(7468), FGFR1(2260), GDF5(8200), FGFR2(2263), DHCR7(1717), HOXA13(3209), KCNJ2(3759), DYM(54808), COL2A1(1280), WNT7A(7476), PEX26(55670), GNAS(2778), VPS13B(157680), TNNI2(7136), PORCN(64840), PEX3(8504), TNNT3(7140), PHYH(5264), MMP2(4313), HOXD13(3239), TPM2(7169)]
ABNORMALITY OF THE METOPIC SUTURE(HP:0005556)	[INS(3630), KCNJ11(3767), GCK(2645), ABCC8(6833)]
ABNORMALITY OF THE MIDBRAIN(HP:0002418)	[TMEM67(91147), NPHP1(4867), TMEM216(51259), AHI1(54806), INPP5E(56623), CEP290(80184)]
ABNORMALITY OF THE MIDDLE EAR(HP:0000370)	[FBN1(2200), CCBE1(147372), NSD1(64324), EDNRB(1910), DCR(1637), SLC35C1(55343), RDX(5962), NOG(9241), ALX3(257), CDH23(64072), MYH9(4627), MYO15A(51168), GNPTAB(79158), SC5DL(6309), MYO7A(4647), UQCRB(7381), TMC1(117531), LRP5(4041), IL2RG(3561), POU3F4(5456), GJB2(2706), CACNA1A(773), GJA1(2697), CHRNG(1146), POR(5447), RAB23(51715), TNFRSF11A(8792), ICOS(29851), ACTG1(71), SDHD(6392), FGFR3(2261), GDF5(8200), NBN(4683), FGFR2(2263), BCS1L(617), COL11A2(1302), AAAS(8086), FGF10(2255), FGF3(2248), DSPP(1834), RAG2(5897), RAG1(5896), USH1C(10083), COL2A1(1280), SLC26A4(5172), GDF6(392255), ACVR1(90), OPA1(4976), ANKH(56172), FOXI1(2299), TBX1(6899), PORCN(64840), NIPBL(25836), TAP1(6890), TAP2(6891), FAM123B(139285), ALMS1(7840), TAPBP(6892), CHD7(55636), TMPRSS3(64699), EYA4(2070), GATA1(2623), MGP(4256), GRHL2(79977), FLNA(2316), FLNB(2317), IDS(3423), BTK(695), UQCRQ(27089), LHX3(8022), DIAPH1(1729), TCOF1(6949), OTOF(9381), TRIOBP(11078), CFI(3426), MYH14(79784), LBR(3930), COL1A2(1278), RECQL4(9401), COL1A1(1277), WFS1(7466), SQSTM1(8878), DNAI1(27019), TNFRSF13B(23495), EYA1(2138), HGF(3082), DHCR7(1717), KCNQ4(9132), DGCR(1714), FREM2(341640), TECTA(7007), PCDH15(65217), FRAS1(80144), DCLRE1C(64421), SOST(50964), TP63(8626), TFAP2A(7020), SEMA3E(9723), DFNA5(1687), WAS(7454), PNP(4860)]
ABNORMALITY OF THE MIDDLE EAR OSSICLES(HP:0004452)	[TFAP2A(7020)]
ABNORMALITY OF THE MIDDLE PHALANGES OF THE HAND(HP:0009833)	[MYCN(4613), BMP4(652), TRPS1(7227), FGFR1(2260), GATA1(2623), FGFR3(2261), GDF5(8200), FGFR2(2263), TFAP2B(7021), ROR2(4920), H19(283120), EIF2AK3(9451), RUNX2(860), DCR(1637), SLC26A2(1836), NOG(9241), FGF10(2255), HOXD13(3239), GJA1(2697), HOXA13(3209), COL2A1(1280), IHH(3549), BMPR1B(658)]
ABNORMALITY OF THE MIDDLE PHALANGES OF THE TOES(HP:0010183)	[NOG(9241), GDF5(8200), IHH(3549), BMPR1B(658)]
ABNORMALITY OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009543)	[MYCN(4613), GDF5(8200), BMPR1B(658)]
ABNORMALITY OF THE MIDDLE PHALANX OF THE 3RD FINGER(HP:0004172)	[GDF5(8200)]
ABNORMALITY OF THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0004219)	[MYCN(4613), HOXD13(3239), GJA1(2697), GATA1(2623), GDF5(8200), TFAP2B(7021), ROR2(4920), H19(283120), BMPR1B(658), DCR(1637)]
ABNORMALITY OF THE MIDFACE(HP:0000309)	[FBN1(2200), PEX19(5824), ABCD3(5825), FKRP(79147), ATRX(546), PEX2(5828), TWIST1(7291), PEX5(5830), MYH3(4621), CCBE1(147372), GATA1(2623), TGFBR1(7046), MGP(4256), FLNA(2316), FLNB(2317), DCR(1637), BUB1B(701), NF1(4763), CRLF1(9244), SLC35D1(23169), DNMT3B(1789), CANT1(124583), TCOF1(6949), BMP4(652), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), SEC23A(10484), PEX7(5191), BLM(641), ROR2(4920), DDR2(4921), SLC6A8(6535), LBR(3930), GJA1(2697), COL1A2(1278), POR(5447), AGL(178), RAI1(10743), PTH1R(5745), RAB23(51715), COL1A1(1277), MAN2B1(4125), CTDP1(9150), HSPG2(3339), EHMT1(79813), LMNA(4000), FGFR1(2260), FGFR3(2261), NBN(4683), FGFR2(2263), MECP2(4204), COL11A2(1302), PAX3(5077), COL11A1(1301), SLC26A2(1836), GPC6(10082), KCNJ2(3759), SH3PXD2B(285590), COL2A1(1280), PQBP1(10084), PEX26(55670), SHH(6469), GNAS(2778), POMGNT1(55624), SMCR(6600), SOST(50964), TP63(8626), PEX3(8504), TFAP2A(7020), LIFR(3977), RUNX2(860), EBP(10682), PCCB(5096), GORAB(92344), PVRL1(5818), PCCA(5095)]
ABNORMALITY OF THE MIDNASAL CAVITY(HP:0010641)	[SHH(6469)]
ABNORMALITY OF THE MINERALISATION AND OSSIFICATION OF BONES OF THE FEET(HP:0010675)	[EBP(10682), LBR(3930), MATN3(4148), HOXA13(3209), SLC35D1(23169), LRP5(4041), COL2A1(1280), PTH1R(5745), EIF2AK3(9451), FLNA(2316), CANT1(124583)]
ABNORMALITY OF THE MINERALISATION AND OSSIFICATION OF BONES OF THE HAND(HP:0010660)	[GPC3(2719), LMNA(4000), ERCC8(1161), LRP5(4041), ERCC6(2074), DDR2(4921), FLNA(2316), ZMPSTE24(10269), EBP(10682), WNK1(65125), TRPV4(59341), RMRP(6023), MMP2(4313), MATN3(4148), CTSC(1075), HOXA13(3209), SLC35D1(23169), PTH1R(5745), COL3A1(1281), IHH(3549), CTSK(1513), CANT1(124583)]
ABNORMALITY OF THE MINERALISATION OR OSSIFICATION OF THE EPIPHYSES(HP:0010656)	[GDF5(8200), MGP(4256)]
ABNORMALITY OF THE MITRAL VALVE(HP:0001633)	[FBN1(2200), FBN2(2201), RPS6KA3(6197), TGFBR1(7046), POLG(5428), FLNA(2316), COL5A2(1290), PTPN11(5781), HGD(3081), COL5A1(1289), SOS1(6654), HRAS(3265), FBLN5(10516), COL2A1(1280), CBS(875), COL3A1(1281), FMR1(2332), ADAMTSL2(9719), VPS13B(157680), ELN(2006), TNXB(7148), AGA(175), ABCC6(368), BCOR(54880), VWF(7450), GBA(2629), COL1A2(1278), ZNF469(84627), COL1A1(1277)]
ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547)	[PEX19(5824), PEX5(5830), TBX15(6913), RPS6KA3(6197), ERCC4(2072), VDR(7421), HSD17B4(3295), BRAF(673), B4GALT7(11285), FLNA(2316), SLC16A2(6567), FLNB(2317), MAP2K1(5604), MAP2K2(5605), SOX9(6662), HRAS(3265), MATN3(4148), AURKC(6795), SLC35D1(23169), GNE(10020), IHH(3549), GNPTAB(79158), SEPN1(57190), PEX10(5192), DYNC2H1(79659), PEX14(5195), PEX13(5194), CRTAP(10491), EMD(2010), PEX1(5189), LRP5(4041), DDR2(4921), ACOX1(51), LBR(3930), SLC9A6(10479), GJA1(2697), PDHX(8050), CPT2(1376), MAN2B1(4125), MGAT2(4247), ATP7A(538), TRAPPC2(6399), HSPG2(3339), TRPS1(7227), UPF3B(65109), RAPSN(5913), ZEB2(9839), FGFR1(2260), FGFR3(2261), EVC2(132884), FGFR2(2263), ZMPSTE24(10269), CYP2R1(120227), LMX1B(4010), MED12(9968), SLC26A2(1836), PTPN11(5781), CYP27B1(1594), SBDS(51119), DYM(54808), COL2A1(1280), IGF1R(3480), FUCA1(2517), WNT7A(7476), EVC(2121), PQBP1(10084), PEX26(55670), NEB(4703), ADA(100), TRIP11(9321), TNNT1(7138), KRAS(3845), PEX3(8504), EFNB1(1947), EIF2AK3(9451), RUNX2(860), TRPV4(59341), KDM5C(8242), OFD1(8481), DOK7(285489), GBA(2629), SLC34A3(142680), CUL7(9820), GNPTG(84572), CHST3(9469), AR(367), CASR(846), LEPRE1(64175)]
ABNORMALITY OF THE MOTOR NEURONS(HP:0002450)	[CTDP1(9150), SLC25A15(10166), SH3TC2(79628), ZFYVE26(23503), LMNA(4000), NEFL(4747), SETX(23064), CCT5(22948), MAPT(4137), GJC2(57165), DCTN1(1639), SLC16A2(6567), MED25(81857), SPG20(23111), GLE1(2733), EGR2(1959), PSEN1(5663), HSPB8(26353), ABCB7(22), TREM2(54209), ALS2(57679), RAB7A(7879), GDAP1(54332), SMN1(6606), PLEKHG5(57449), NIPA1(123606), UBA1(7317), MFN2(9927), SPG11(80208), KIF1B(23095), HSPB1(3315), KIF5A(3798), MTMR2(8898), FGD4(121512), GJB1(2705), PRX(57716), IGHMBP2(3508), MPZ(4359), LITAF(9516), TYROBP(7305), VRK1(7443), PC(5091), PMP22(5376)]
ABNORMALITY OF THE MOUTH(HP:0000153)	[FBN1(2200), FBN2(2201), FKRP(79147), TINF2(26277), CCBE1(147372), HSD17B4(3295), H19(283120), DPM1(8813), EDARADD(128178), SLC16A2(6567), SLC35C1(55343), KCNQ1OT1(10984), ABCA1(19), HRAS(3265), PPIB(5479), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), LYST(1130), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), FKTN(2218), CHRNG(1146), CHRNE(1145), CHRND(1144), ACTA1(58), PUS1(80324), TNFRSF11A(8792), CHRNB1(1140), WNT10A(80326), ACTB(60), SNRPN(6638), FH(2271), UPF3B(65109), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CDKN1C(1028), FAM83H(286077), FGF10(2255), SOS1(6654), FGF3(2248), CECR(1055), FGD1(2245), ACVRL1(94), EDAR(10913), GDF6(392255), ACVR1(90), SMN1(6606), FOXC2(2303), HPS1(3257), WNK1(65125), HOXD13(3239), CUL7(9820), CTSC(1075), SMS(6611), ERBB3(2065), ABCA12(26154), TRIM32(22954), PHOX2B(8929), ERCC4(2072), PRPS1(5631), STRA6(64220), ERCC6(2074), MTM1(4534), MAP2K1(5604), MAP2K2(5605), BLOC1S3(388552), SH3BP2(6452), MAPK10(5602), HOXA2(3199), AGA(175), SOX18(54345), MSX2(4488), AHCY(191), COL1A2(1278), AGL(178), ZNF469(84627), COL1A1(1277), KIAA1279(26128), MSX1(4487), GJB6(10804), WHCR(7467), SEPT9(10801), WHSC1(7468), SIX3(6496), ERCC8(1161), CEP290(80184), MUSK(4593), EYA1(2138), MED12(9968), TRIM37(4591), WNT3(7473), HEXB(3074), EVC(2121), NOP10(55505), SMARCAL1(50485), CLCN7(1186), FRAS1(80144), SHH(6469), ALDOB(229), SHOX(6473), ALDH3A2(224), WAS(7454), GORAB(92344), ALPL(249), F10(2159), LEPRE1(64175), SCN9A(6335), CLDN1(9076), ANCR(282), NSD1(64324), HPS5(11234), VDR(7421), MAT1A(4143), SLC6A19(340024), FERMT1(55612), ESCO2(157570), ALX3(257), AMELY(266), GNE(10020), AMELX(265), SC5DL(6309), TMEM216(51259), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), UROS(7390), IL2RG(3561), SLC17A5(26503), CREBBP(1387), CNNM4(26504), SLC12A6(9990), CPT2(1376), MAN2B1(4125), PDHA1(5160), COL17A1(1308), NHP2(55651), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), COL5A2(1290), AIRE(326), COL6A1(1291), APC(324), COL5A1(1289), COL7A1(1294), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), COL2A1(1280), IGF1R(3480), FUCA1(2517), UBE3A(7337), COL3A1(1281), PQBP1(10084), TTC8(123016), PEX26(55670), BSCL2(26580), POMGNT1(55624), UBB(7314), SLC37A4(2542), VPS13B(157680), UBA1(7317), SLC39A4(55630), ABCC6(368), GAA(2548), AR(367), CHD7(55636), ARSB(411), PLOD1(5351), FOXE1(2304), LARGE(9215), TWIST1(7291), RPS6KA3(6197), MGP(4256), FLNA(2316), FLNB(2317), IDS(3423), MID1(4281), PMM2(5373), FMR1(2332), TSPYL1(7259), TSHB(7252), TSC1(7248), TSC2(7249), ENAM(10117), ASCL1(429), ARX(170302), MBTPS2(51360), PLG(5340), CTSK(1513), PLEC(5339), MGAT2(4247), CTDP1(9150), ATP1A3(478), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), ATIC(471), LMBRD1(55788), PITX2(5308), ALG3(10195), PHEX(5251), HYAL1(3373), DCLRE1C(64421), HYLS1(219844), ANTXR2(118429), MMP2(4313), ATP2A2(488), HPS4(89781), TPM2(7169), SH3TC2(79628), RET(5979), AVP(551), TGIF1(7050), ATRX(546), ATR(545), TGFBR1(7046), TGFB1(7040), GLI3(2737), DCR(1637), SATB2(23314), GLE1(2733), NOG(9241), CRLF1(9244), ADAMTS10(81794), RPGRIP1L(23322), EMG1(10436), GLB1(2720), GPC3(2719), NTRK1(4914), CRTAP(10491), SEC23A(10484), ROR2(4920), DDR2(4921), MCPH1(79648), GJB2(2706), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), ATP7B(540), PROKR2(128674), DBH(1621), ATP7A(538), KCNJ11(3767), GP1BA(2811), MKKS(8195), RAPSN(5913), OCRL(4952), FGF23(8074), BDNF(627), CYP27B1(1594), KCNJ2(3759), DTNBP1(84062), ABHD5(51099), GNAS(2778), TNFRSF11B(4982), BBS1(582), KAL1(3730), BBS2(583), OPHN1(4983), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), BBS10(79738), KDM5C(8242), FAM123B(139285), DOK7(285489), RB1(5925), PLA2G6(8398), TBX15(6913), ARL6(84100), GATA1(2623), TBX3(6926), BRAF(673), B4GALT7(11285), ITGB3(3690), ITGB4(3691), BUB1B(701), ITGB2(3689), ALS2(57679), KL(9365), TCIRG1(10312), DNMT3B(1789), TCOF1(6949), TCN2(6948), BMP4(652), ITGA2B(3674), BCOR(54880), DLAT(1737), GALNS(2588), DKC1(1736), IRF6(3664), GALNT3(2591), BLM(641), FOXL2(668), MKS1(54903), DLX3(1747), C20orf54(113278), GNPAT(8443), RECQL4(9401), PDHX(8050), HPS6(79803), POMT2(29954), ITGA6(3655), EHMT1(79813), INSR(3643), PAX3(5077), ZMPSTE24(10269), INS(3630), DHCR24(1718), RMRP(6023), CA2(760), DHCR7(1717), DGCR(1714), AHI1(54806), FAM20C(56975), DYM(54808), SH3PXD2B(285590), SAMD9(54809), PAK3(5063), GDNF(2668), TEK(7010), ALG1(56052), GCK(2645), PCNT(5116), TERC(7012), CLCF1(23529), TERT(7015), SOST(50964), CHST14(113189), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), PCCB(5096), TBX22(50945), ATP6V0A2(23545), GBA(2629), CHST3(9469), PCCA(5095), MYCN(4613), TBX4(9496), BBS5(129880), SLURP1(57152), MYH3(4621), EDN3(1908), EDA(1896), IKBKG(8517), IKBKAP(8518), CDKL5(6792), MYH8(4626), STK11(6794), AURKC(6795), PTCH1(5727), SEPN1(57190), LRP5(4041), PTEN(5728), ABCC8(6833), VSX1(30813), AP3B1(8546), NAGA(4668), RAB23(51715), PTH1R(5745), SUOX(6821), ADAMTS2(9509), LMNA(4000), EVC2(132884), NBN(4683), PRPS2(5634), LMX1B(4010), SLC26A2(1836), SPG20(23111), CUL4B(8450), NDN(4692), DSP(1832), DSPP(1834), CBS(875), NEB(4703), ANKH(56172), TBCE(6905), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), LIFR(3977), RUNX2(860), OFD1(8481), BBS7(55212), ALMS1(7840), MOGS(7841), DPAGT1(1798), PAX8(7849), PEX19(5824), EP300(2033), ABCD3(5825), CD40LG(959), PEX2(5828), KLK4(9622), PEX5(5830), SOX9(6662), ENG(2022), NSDHL(50814), SLC35D1(23169), ANO5(203859), POMT1(10585), LAMB3(3914), LAMC2(3918), VPS13A(23230), D2HGDH(728294), LAMA3(3909), LBR(3930), ELANE(1991), TNFSF11(8600), NHS(4810), NGF(4803), KRT17(3872), CDH3(1001), PTPN11(5781), FREM2(341640), KRT6B(3854), ADAMTSL2(9719), ST14(6768), KRT6A(3853), STAT3(6774), KRT4(3851), NLRP3(114548), TP63(8626), KRAS(3845), EFNB1(1947), MMACHC(25974), SEMA3E(9723), KRT16(3868), AGPAT2(10555), KRT14(3861), KRT13(3860), PVRL1(5818)]
ABNORMALITY OF THE MUSCULATURE OF THE HAND(HP:0001421)	[TRPV4(59341), ABCA1(19), FGF10(2255), MYH7(4625), ALS2(57679), NEFL(4747), HOXA13(3209), SALL4(57167), FGFR3(2261), DCTN1(1639)]
ABNORMALITY OF THE MUSCULATURE OF THE LIMBS(HP:0009127)	[VCP(7415), FBN2(2201), FKRP(79147), MYOT(9499), TRIM32(22954), NEFL(4747), SALL4(57167), PRPS1(5631), SGCB(6443), SGCA(6442), CAPN3(825), SGCG(6445), DCTN1(1639), FLNA(2316), ABCA1(19), ALX3(257), MYH7(4625), TTN(7273), RAB7A(7879), ALS2(57679), MATR3(9782), ANO5(203859), SBF2(81846), LYST(1130), HSPB1(3315), KIF1B(23095), DYSF(8291), PRX(57716), LBR(3930), MPZ(4359), TCAP(8557), DMD(1756), TRPS1(7227), LMNA(4000), RAPSN(5913), FGFR3(2261), PAX3(5077), PRPS2(5634), EYA1(2138), LMX1B(4010), PTPN11(5781), CRYAB(1410), FGF10(2255), EGR2(1959), HOXA13(3209), KCNJ2(3759), GDAP1(54332), MFN2(9927), TBX5(6910), CAV3(859), DES(1674), TRPV4(59341), KDM5C(8242), ATP6V0A2(23545), AR(367), PMP22(5376)]
ABNORMALITY OF THE MUSCULATURE OF THE LOWER LIMBS(HP:0001437)	[FBN2(2201), FKRP(79147), LMNA(4000), TRIM32(22954), NEFL(4747), PRPS1(5631), SGCA(6442), SGCG(6445), DCTN1(1639), LMX1B(4010), PRPS2(5634), CRYAB(1410), EGR2(1959), MYH7(4625), TTN(7273), RAB7A(7879), GDAP1(54332), ANO5(203859), SBF2(81846), LYST(1130), MFN2(9927), HSPB1(3315), KIF1B(23095), DYSF(8291), CAV3(859), PRX(57716), DES(1674), TRPV4(59341), LBR(3930), KDM5C(8242), MPZ(4359), AR(367), TCAP(8557), PMP22(5376), DMD(1756)]
ABNORMALITY OF THE MUSCULATURE OF THE PELVIS(HP:0001469)	[MYOT(9499), LMNA(4000), TRIM32(22954), SGCB(6443), ANO5(203859)]
ABNORMALITY OF THE MUSCULATURE OF THE THIGH(HP:0001441)	[LMNA(4000)]
ABNORMALITY OF THE MUSCULATURE OF THE THORAX(HP:0009131)	[SALL4(57167)]
ABNORMALITY OF THE MUSCULATURE OF THE UPPER ARM(HP:0001457)	[LMX1B(4010)]
ABNORMALITY OF THE MUSCULATURE OF THE UPPER LIMBS(HP:0001446)	[VCP(7415), FKRP(79147), TRPS1(7227), MYOT(9499), LMNA(4000), TRIM32(22954), NEFL(4747), SALL4(57167), FGFR3(2261), SGCB(6443), CAPN3(825), DCTN1(1639), FLNA(2316), PAX3(5077), EYA1(2138), LMX1B(4010), PTPN11(5781), FGF10(2255), ABCA1(19), ALX3(257), MYH7(4625), ALS2(57679), HOXA13(3209), KCNJ2(3759), MATR3(9782), ANO5(203859), TBX5(6910), TRPV4(59341), ATP6V0A2(23545)]
ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924)	[FBN1(2200), FBN2(2201), SUCLG1(8802), FBP1(2203), TINF2(26277), VPS33B(26276), SPINK5(11005), SACS(26278), CCBE1(147372), FBLN1(2192), DPM1(8813), EDARADD(128178), SLC16A1(6566), TRPM6(140803), SLC16A2(6567), SLC22A5(6584), KCNQ1OT1(10984), FAH(2184), ABCA1(19), ABAT(18), FANCD2(2177), FANCC(2176), FANCE(2178), ACADM(34), ACADS(35), ACADL(33), ACADSB(36), ACADVL(37), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), MPL(4352), MPZ(4359), SLC12A3(6559), MPV17(4358), ACP2(53), SLC12A1(6557), ACTA1(58), PUS1(80324), TNFRSF11A(8792), ACTB(60), SNRPN(6638), FH(2271), UPF3B(65109), LHX4(89884), FGFR1(2260), FGFR3(2261), FGFR2(2263), FGF14(2259), FGF10(2255), SOS1(6654), HSPB8(26353), FGF3(2248), FGD1(2245), ACY1(95), SOD1(6647), ACVRL1(94), EDAR(10913), GDF6(392255), ACVR1(90), SMN1(6606), FOXC2(2303), ADA(100), SMCR(6600), NDUFA11(126328), WNK1(65125), TRPV4(59341), SMS(6611), SMPD1(6609), ERBB3(2065), ABCA12(26154), ERCC2(2068), SFTPB(6439), ERCC3(2071), ERCC4(2072), SGCB(6443), SGCA(6442), ERCC6(2074), SGCG(6445), MTM1(4534), SGSH(6448), MTHFR(4524), TMEM67(91147), ADSL(158), AGA(175), SPG11(80208), AFP(174), MTMR2(8898), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), AGTR1(185), MIPOL1(145282), AGXT(189), AGL(178), ACAN(176), KIAA1279(26128), JAG1(182), AGT(183), GJB6(10804), EXT2(2132), SQSTM1(8878), SIX3(6496), EXT1(2131), ST3GAL5(8869), CEP290(80184), MVK(4598), MUSK(4593), EYA1(2138), MUT(4594), EIF2B2(8892), EIF2B5(8893), TRIM37(4591), SLC2A1(6513), SLC2A2(6514), SLC17A3(10786), EIF2B4(8890), EIF2B3(8891), GDAP1(54332), ABCD1(215), EVC(2121), SLC4A1(6521), PHGDH(26227), ALAD(210), PCDH15(65217), SMARCAL1(50485), FRAS1(80144), SHH(6469), F13A1(2162), FANCA(2175), WISP3(8838), TSEN54(283989), ALDOA(226), SHOX(6473), ALDH3A2(224), MTRR(4552), ALPL(249), F9(2158), F10(2159), F8(2157), AMT(275), BIN1(274), SCN4A(6329), SCN9A(6335), ANCR(282), MAPT(4137), SLC7A7(9056), ALX3(257), MATN3(4148), PAPSS2(9060), MC2R(4158), AMPD1(270), ATXN1(6310), ATXN2(6311), SC5DL(6309), SALL1(6299), RAB39B(116442), AIP(9049), CHEK2(11200), PSTPIP1(9051), GNASAS(149775), C10orf2(56652), SLC25A4(291), FSHR(2492), SLC17A5(26503), SEC63(11231), MAN2B1(4125), MANBA(4126), TRAPPC2(6399), SDHA(6389), INPP5E(56623), MECP2(4204), PDP1(54704), MEFV(4210), LEMD3(23592), PDSS1(23590), FUCA1(2517), MEN1(4221), BSCL2(26580), SLC37A4(2542), ABCC6(368), G6PC(2538), PANK2(80025), GAA(2548), AR(367), LDB3(11155), ARSA(410), ARSB(411), ARSE(415), LARGE(9215), RPS6KA3(6197), MGP(4256), FLNC(2318), FLNA(2316), FLNB(2317), MID1(4281), ATXN3(4287), FMR1(2332), ASPA(443), ASAH1(427), SLC6A5(9152), MGAT2(4247), CTDP1(9150), RYR1(6261), ATM(472), ATIC(471), MMP13(4322), MPI(4351), FXN(2395), MOCS2(4338), MOCS1(4337), ALDH7A1(501), HYLS1(219844), ANTXR2(118429), MMP2(4313), RPS19(6223), ATP2A1(487), TH(7054), AVP(551), NPR2(4882), ATRX(546), ATR(545), TGFBR1(7046), GLRB(2743), GLRA1(2741), TGFB1(7040), MCCC1(56922), GLI3(2737), B2M(567), GLE1(2733), THRB(7068), GLDC(2731), NPHP1(4867), THPO(7066), GCLC(2729), NPC1(4864), EMG1(10436), GLB1(2720), TK2(7084), COLQ(8292), GLA(2717), GPC3(2719), NKX2-1(7080), NTRK1(4914), DYSF(8291), MRPS22(56945), CRTAP(10491), SEC23A(10484), GK(2710), ROR2(4920), GJB1(2705), DDR2(4921), GJB2(2706), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), ATP7B(540), GH1(2688), GHR(2690), ATP7A(538), MKKS(8195), FBXO7(25793), NDRG1(10397), GDF5(8200), OCRL(4952), BCS1L(617), COL18A1(80781), GNS(2799), SBDS(51119), GNRH1(2796), TNFRSF1A(7132), OAT(4942), ABHD5(51099), GNAS(2778), TNXB(7148), TNFRSF11B(4982), BBS1(582), BBS2(583), OPHN1(4983), TNNI2(7136), BBS4(585), TNNT1(7138), TNNT3(7140), NIPBL(25836), BCKDHA(593), GM2A(2760), BCKDHB(594), KDM5C(8242), OGDH(4967), TPI1(7167), TP53(7157), SDHAF1(644096), BTD(686), PLA2G6(8398), TBXAS1(6916), ATL1(51062), TBX15(6913), EFEMP2(30008), GATA1(2623), TBX3(6926), BRAF(673), GARS(2617), BUB1B(701), HNF1B(6928), GAMT(2593), SLC46A1(113235), BTK(695), TCIRG1(10312), TCOF1(6949), PAH(5053), GALC(2581), TCN2(6948), BMP4(652), GALE(2582), BCOR(54880), GALNS(2588), GALNT3(2591), BLM(641), PSAT1(29968), MKS1(54903), C20orf54(113278), GNPAT(8443), DMGDH(29958), MRPS16(51021), BMPR1A(657), BMPR1B(658), POMT2(29954), GAD1(2571), GGCX(2677), B4GALT1(2683), FZD4(8322), PAX3(5077), ZMPSTE24(10269), GPHN(10243), CA2(760), GDF1(2657), AHI1(54806), FAM20C(56975), DYM(54808), GFAP(2670), PAK3(5063), C1R(715), GCH1(2643), COQ9(57017), GCK(2645), PCNT(5116), SOST(50964), CHST14(113189), TF(7018), GCSH(2653), TFAP2B(7021), TFAP2A(7020), PCCB(5096), GBA(2629), GBE1(2632), APTX(54840), PC(5091), CABC1(56997), PCCA(5095), GCDH(2639), MYCN(4613), GUSB(2990), SLURP1(57152), SALL4(57167), MYH3(4621), AGPS(8540), GJC2(57165), CAPN3(825), MYF6(4618), IKBKG(8517), IKBKAP(8518), PDE11A(50940), CDKL5(6792), MYH7(4625), MYH8(4626), STK11(6794), AURKC(6795), CANT1(124583), YARS(8565), SLC25A20(788), SEPN1(57190), MYO5A(4644), MCOLN1(57192), SURF1(6834), ABCC8(6833), CACNA1C(775), CACNA1A(773), AP3B1(8546), RAI1(10743), NAGA(4668), NAGLU(4669), SUOX(6821), TCAP(8557), ICOS(29851), CACNA1S(779), HCCS(3052), KRIT1(889), EVC2(132884), ALG6(29929), HBB(3043), NBN(4683), CYP2R1(120227), NCF2(4688), PDSS2(57107), SERPINA6(866), CUL4B(8450), NDN(4692), NDUFA1(4694), NDUFA2(4695), CBS(875), HCRT(3060), SYN1(6853), NEB(4703), ALX4(60529), TBCE(6905), TBX5(6910), TBX1(6899), CAV3(859), ATCAY(85300), PORCN(64840), PEX3(8504), NDUFS1(4719), TAZ(6901), RUNX2(860), EBP(10682), NDUFS3(4722), NDUFV1(4723), DLL3(10683), NDUFS2(4720), HADHB(3032), OFD1(8481), HADH(3033), BBS7(55212), NDUFS6(4726), CLDN16(10686), NDUFS4(4724), AGRN(375790), NDUFS8(4728), CASR(846), HADHA(3030), HSD17B10(3028), SLC19A2(10560), NEFL(4747), SPG7(6687), SLC34A2(10568), NDUFAF2(91942), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), NF1(4763), NSDHL(50814), NEU1(4758), ANO5(203859), POMT1(10585), GPI(2821), NDUFAF3(25915), D2HGDH(728294), NF2(4771), PNPO(55163), GFM1(85476), SPINK1(6690), THAP1(55145), STX16(8675), SPR(6697), TNFSF11(8600), NHS(4810), NGF(4803), CDH3(1001), FBLN5(10516), GSN(2934), NME1(4830), STAT3(6774), STAT1(6772), TP63(8626), MMACHC(25974), SSTR5(6755), PNP(4860), SLC34A3(142680), AGPAT2(10555), SPTLC1(10558), FKRP(79147), CHAT(1103), MMADHC(27249), MCCC2(64087), HSD17B4(3295), H19(283120), SLC35C1(55343), HRAS(3265), COQ2(27235), CTSA(5476), DOLK(22845), PPIB(5479), MATR3(9782), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), PPARG(5468), NOD2(64127), LYST(1130), HSPB1(3315), POU3F4(5456), C20orf7(79133), HSF4(3299), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), CHRNB1(1140), ZEB2(9839), CDKN1B(1027), BBS12(166379), CDKN1C(1028), POLG(5428), HOXA11(3207), CECR(1055), HOXA13(3209), ASPM(259266), C8orf38(137682), CNBP(7555), HPRT1(3251), HPGD(3248), SFTPA2(729238), HOXD13(3239), FASTKD2(22868), HOXD10(3236), CUL7(9820), CTSC(1075), GNPTG(84572), PMP22(5376), PRNP(5621), TRIM32(22954), CCT5(22948), PRPS1(5631), ROBO3(64221), STRA6(64220), PRODH(5625), KIAA0196(9897), MAP2K1(5604), MAP2K2(5605), HMBS(3145), ZIC1(7545), MAPK10(5602), FAM126A(84668), HLCS(3141), PRKCSH(5589), ABCG8(64241), ABCG5(64240), XDH(7498), FGD4(121512), WT1(7490), VMA21(203547), PRKAR1A(5573), COL1A2(1278), ZNF469(84627), COL1A1(1277), RAB3GAP1(22930), XPA(7507), WHCR(7467), WFS1(7466), WHSC1(7468), ERCC8(1161), MED12(9968), WNT10B(7480), HGD(3081), PPT1(5538), NCF1(653361), WRN(7486), WNT3(7473), HEXA(3073), HEXB(3074), WNT7A(7476), CLCN1(1180), HFE(3077), NOP10(55505), CLCN7(1186), FRMD7(90167), CLCN5(1184), MFN2(9927), VLDLR(7436), CLCNKB(1188), PPP1R3A(5506), VWF(7450), WAS(7454), GORAB(92344), VRK1(7443), MNX1(3110), LEPRE1(64175), VCP(7415), CPT1A(1374), PGK1(5230), CPOX(1371), PGAM2(5224), NSD1(64324), VDR(7421), LMBR1(64327), FERMT1(55612), ESCO2(157570), COX15(1355), KIF21A(55605), GNE(10020), IHH(3549), UQCRB(7381), UPK3A(7380), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), UROS(7390), IL2RG(3561), UQCRC1(7384), SCO2(9997), PFKM(5213), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), UMOD(7369), IFNGR1(3459), PDHA1(5160), COMP(1311), ENPP1(5167), COL17A1(1308), COL9A3(1299), COL9A2(1298), NHP2(55651), COL9A1(1297), COL11A2(1302), TSFM(10102), COL11A1(1301), PDGFRA(5156), COL5A2(1290), COL6A1(1291), COL5A1(1289), COL7A1(1294), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), IGF1R(3480), COL2A1(1280), UBE3A(7337), COL3A1(1281), PQBP1(10084), TTC8(123016), PEX26(55670), POMGNT1(55624), VPS13B(157680), UBA1(7317), COX6B1(1340), IGHMBP2(3508), TYROBP(7305), CHD7(55636), PLOD1(5351), TWIST1(7291), SERPINF2(5345), PLP1(5354), PLOD2(5352), CTNS(1497), IDS(3423), TTR(7276), TTN(7273), AASS(10157), PMM2(5373), NKX2-5(1482), LRPPRC(10128), TSPYL1(7259), TSHB(7252), TSHR(7253), SP110(3431), CYBA(1535), TSC1(7248), PLA2G2A(5320), TSC2(7249), CFI(3426), CTSD(1509), ARX(170302), MBTPS2(51360), PLG(5340), CTSK(1513), PLEC(5339), HSPG2(3339), MBD5(55777), TRPS1(7227), CD96(10225), HSPD1(3329), LMBRD1(55788), CRYAB(1410), PITX1(5307), PRG4(10216), TRH(7200), PITX2(5308), ALG3(10195), MMAB(326625), PHEX(5251), HYAL1(3373), PHKA1(5255), CDK5RAP2(55755), PHKB(5257), CSF3R(1441), PHYH(5264), TPM2(7169), TPM3(7170), SH3TC2(79628), RET(5979), CENPJ(55835), DCX(1641), MMAA(166785), DDC(1644), GAN(8139), VAPB(9217), DCTN1(1639), ACE(1636), REN(5972), DCR(1637), NOG(9241), GCM2(9247), CRLF1(9244), ADAMTS10(81794), RPGRIP1L(23322), SBF2(81846), DYNC2H1(79659), KIF5A(3798), MCPH1(79648), DBT(1629), KCNQ2(3785), VANGL1(81839), NDUFS7(374291), KCNJ11(3767), RAPSN(5913), FGF23(8074), MED25(81857), AAAS(8086), KCNC3(3748), CYP27B1(1594), RAG2(5897), CYP27A1(1593), RAG1(5896), KCNJ2(3759), KCNJ1(3758), CYP21A2(1589), CYP19A1(1588), CYP11B1(1584), TRIP11(9321), KAL1(3730), NDUFAF4(29078), CYBB(1536), KCNA1(3736), PABPN1(8106), JAK2(3717), BBS10(79738), ZFPM2(23414), SNAP29(9342), FAM123B(139285), DOK7(285489), RB1(5925), MLYCD(23417), SLC25A22(79751), DMPK(1760), ZIC4(84107), ARL6(84100), B4GALT7(11285), ITGB4(3691), ALS2(57679), TREX1(11277), KL(9365), DNM2(1785), DNMT3B(1789), DLAT(1737), DKC1(1736), IRF6(3664), DLD(1738), PRX(57716), DLX3(1747), RECQL4(9401), PDHX(8050), ETHE1(23474), DMD(1756), ISCU(23479), DMP1(1758), ITGA6(3655), ZFYVE26(23503), EHMT1(79813), INSR(3643), ACAD9(28976), TNFRSF13B(23495), CYP7B1(9420), INS(3630), DHCR24(1718), RMRP(6023), DGUOK(1716), DHCR7(1717), DGCR(1714), OSTM1(28962), CYB5R3(1727), SH3PXD2B(285590), HGSNAT(138050), ALG1(56052), CLCF1(23529), SHFM1(7979), DECR1(1666), TIMM8A(1678), EIF2AK3(9451), DES(1674), ATP6V0A2(23545), IL12B(3593), CHST3(9469), TBX4(9496), MYOT(9499), BBS5(129880), SETX(23064), EDNRB(1910), EDA(1896), RAB7A(7879), PTCH1(5727), SMAD4(4089), TYMP(1890), ECM1(1893), NIPA1(123606), KIF1B(23095), PTH(5741), LRP2(4036), LRP5(4041), PTEN(5728), UPB1(51733), LITAF(9516), ALDH5A1(7915), RAB23(51715), PTH1R(5745), TOR1A(1861), ADAMTS2(9509), PRSS1(5644), LMNA(4000), LOX(4015), PRPS2(5634), LMX1B(4010), PSAP(5660), SLC26A2(1836), SPG20(23111), PHF6(84295), DSP(1832), BSND(7809), TREM2(54209), RELN(5649), ANKH(56172), LIFR(3977), TUBA1A(7846), LIPA(3988), ALMS1(7840), MOGS(7841), DPAGT1(1798), PAX8(7849), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), KLK4(9622), PEX5(5830), PYGM(5837), ENG(2022), UQCRQ(27089), SLC35D1(23169), ENO3(2027), LPIN1(23175), LAMB3(3914), PLEKHG5(57449), LAMB1(3912), LAMB2(3913), LAMC2(3918), VPS13A(23230), QDPR(5860), EMD(2010), LAMA2(3908), LAMA3(3909), LBR(3930), MLC1(23209), LAMP2(3920), DNAI1(27019), PTPN11(5781), EGR2(1959), L1CAM(3897), EIF2B1(1967), FREM2(341640), ADAMTSL2(9719), NLRP3(114548), KRAS(3845), PTS(5805), EFNB1(1947), SUMF1(285362), SEMA3E(9723), PVRL1(5818)]
ABNORMALITY OF THE MYOCARDIUM(HP:0001637)	[SCN5A(6331), FKRP(79147), MYOT(9499), NSD1(64324), HPS5(11234), TGFB3(7043), H19(283120), DNAJC19(131118), SLC22A5(6584), KCNQ1OT1(10984), FAH(2184), HRAS(3265), MYH7(4625), DOLK(22845), GNPTAB(79158), GLB1(2720), UQCRB(7381), ACADS(35), SLC25A20(788), ACADL(33), GPC3(2719), ACADVL(37), MRPS22(56945), AIP(9049), MYLK2(85366), C10orf2(56652), FKTN(2218), SCO2(9997), RAB3GAP2(25782), SLC25A4(291), C20orf7(79133), TCAP(8557), CPT2(1376), LMNA(4000), HCCS(3052), SDHA(6389), BCS1L(617), CDKN1C(1028), POLG(5428), TSFM(10102), PRPS2(5634), PDGFRA(5156), DSP(1832), SBDS(51119), NDUFA1(4694), DSG2(1829), DTNBP1(84062), BSCL2(26580), JUP(3728), COX6B1(1340), ABCC6(368), HPS3(84343), CAV3(859), TNNI3(7137), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), TNNT2(7139), NDUFS1(4719), TAZ(6901), NDUFV1(4723), NDUFS2(4720), HADHB(3032), HADH(3033), NDUFS6(4726), FASTKD2(22868), NDUFS4(4724), ALMS1(7840), HADHA(3030), SDHAF1(644096), MLYCD(23417), LDB3(11155), ERBB3(2065), PRPS1(5631), NDUFAF2(91942), BRAF(673), MAP2K1(5604), MAP2K2(5605), TTR(7276), BLOC1S3(388552), TTN(7273), UQCRQ(27089), PMM2(5373), NEU1(4758), PKP2(5318), NDUFAF3(25915), D2HGDH(728294), AHCY(191), CSRP3(8048), AGL(178), LAMP2(3920), DMD(1756), HPS6(79803), MYBPC3(4607), WFS1(7466), ACAD9(28976), PRKAG2(51422), MUT(4594), PTPN11(5781), CRYAB(1410), TRIM37(4591), FXN(2395), HFE(3077), ALG1(56052), KRAS(3845), DES(1674), PCCB(5096), SSTR5(6755), HPS4(89781), GBE1(2632), TPM1(7168), PCCA(5095)]
ABNORMALITY OF THE NAILS(HP:0001597)	[TBX4(9496), TINF2(26277), NPR2(4882), SLURP1(57152), NSD1(64324), LMBR1(64327), DPM1(8813), EDARADD(128178), GLI3(2737), FERMT1(55612), EDA(1896), IKBKG(8517), NOG(9241), HRAS(3265), AURKC(6795), RAB7A(7879), IHH(3549), UBR1(197131), GPC3(2719), NTRK1(4914), SAT1(6303), ROR2(4920), GJB2(2706), GTF2H5(404672), RAB3GAP2(25782), WNT10A(80326), CPT2(1376), COL17A1(1308), FGFR1(2260), EVC2(132884), NHP2(55651), GDF5(8200), FGFR2(2263), LOR(4014), LMX1B(4010), COL7A1(1294), DSP(1832), FOXN1(8456), ACVRL1(94), EDAR(10913), CD82(3732), SLC39A4(55630), PORCN(64840), WNK1(65125), OFD1(8481), TGM5(9333), CTSC(1075), ERCC2(2068), ERCC3(2071), RPS6KA3(6197), ERCC4(2072), FLNA(2316), FLNB(2317), ITGB4(3691), ENG(2022), TREX1(11277), FLT4(2324), NSDHL(50814), RSPO4(343637), LAMB3(3914), LAMC2(3918), SOX18(54345), DKC1(1736), IRF6(3664), TSC1(7248), TSC2(7249), LAMA3(3909), LBR(3930), DLX3(1747), ARX(170302), RECQL4(9401), CTSK(1513), POMP(51371), MSX1(4487), PLEC(5339), ITGA6(3655), GJB6(10804), TRPS1(7227), WHCR(7467), INSR(3643), WHSC1(7468), KRT17(3872), ZMPSTE24(10269), CDH3(1001), EVC(2121), KRT85(3891), NOP10(55505), KRT6B(3854), ADAMTSL2(9719), KRT5(3852), ST14(6768), KRT6A(3853), ALG3(10195), TERC(7012), KRT1(3848), TERT(7015), SOST(50964), TP63(8626), EFNB1(1947), TFAP2A(7020), ALDH3A2(224), KRT16(3868), ATP2A2(488), KRT14(3861), CARD9(64170), PVRL1(5818), KRT10(3858)]
ABNORMALITY OF THE NARES(HP:0005288)	[PEX19(5824), MYCN(4613), KCNJ11(3767), FH(2271), CD96(10225), ATRX(546), EHMT1(79813), PEX5(5830), FGFR1(2260), ATIC(471), INPP5E(56623), COL11A2(1302), COL11A1(1301), GLI3(2737), INS(3630), MID1(4281), BUB1B(701), DHCR7(1717), HRAS(3265), AHI1(54806), CRLF1(9244), FGD1(2245), COL2A1(1280), FREM2(341640), GNPTAB(79158), PEX26(55670), SC5DL(6309), ADAMTSL2(9719), FRAS1(80144), GCK(2645), AGA(175), LRPPRC(10128), TRIP11(9321), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), ROR2(4920), NIPBL(25836), ABCC8(6833), OFD1(8481), GJA1(2697), GBA(2629), SLC17A5(26503), GNPAT(8443), AGL(178)]
ABNORMALITY OF THE NASAL ALA(HP:0000429)	[MYCN(4613), PEX19(5824), ATRX(546), PEX5(5830), RPS6KA3(6197), MYH3(4621), MGP(4256), GLI3(2737), FLNB(2317), EDA(1896), ESCO2(157570), NOG(9241), MID1(4281), BUB1B(701), HRAS(3265), MITF(4286), CRLF1(9244), UBR1(197131), GNPTAB(79158), SC5DL(6309), AGA(175), LRPPRC(10128), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), ROR2(4920), ABCC8(6833), GJA1(2697), SLC17A5(26503), GNPAT(8443), AGL(178), RECQL4(9401), KCNJ11(3767), TRPS1(7227), PDHA1(5160), FH(2271), CD96(10225), EHMT1(79813), FGFR1(2260), ATIC(471), INPP5E(56623), COL11A2(1302), COL11A1(1301), PAX3(5077), INS(3630), DHCR7(1717), AHI1(54806), FGD1(2245), COL2A1(1280), PEX26(55670), ADAMTSL2(9719), GCK(2645), TRIP11(9321), TP63(8626), TBX1(6899), PORCN(64840), PEX3(8504), NIPBL(25836), OFD1(8481), GBA(2629), CUL7(9820)]
ABNORMALITY OF THE NASAL BRIDGE(HP:0000422)	[MYCN(4613), FBN1(2200), FKRP(79147), ATRX(546), TGIF1(7050), CCBE1(147372), MYH3(4621), NSD1(64324), HSD17B4(3295), DPM1(8813), EDARADD(128178), GLI3(2737), EDA(1896), ESCO2(157570), ALX3(257), HRAS(3265), ADAMTS10(81794), CRLF1(9244), GNE(10020), GNPTAB(79158), SC5DL(6309), GPC3(2719), TMEM216(51259), PEX10(5192), DYNC2H1(79659), PEX13(5194), LRP2(4036), SEC23A(10484), PEX1(5189), PEX7(5191), ROR2(4920), DDR2(4921), ACOX1(51), RAB3GAP2(25782), GJA1(2697), CREBBP(1387), POR(5447), RAI1(10743), NAGA(4668), RAB23(51715), UPF3B(65109), PDHA1(5160), FH(2271), ZEB2(9839), FGFR1(2260), FGFR3(2261), MECP2(4204), FGFR2(2263), COL11A2(1302), COL11A1(1301), SLC26A2(1836), SOS1(6654), GPC6(10082), FGD1(2245), COL2A1(1280), IGF1R(3480), EDAR(10913), RELN(5649), PQBP1(10084), PEX26(55670), GNAS(2778), TBCE(6905), POMGNT1(55624), VPS13B(157680), TRIP11(9321), SMCR(6600), TNNI2(7136), PORCN(64840), TNNT3(7140), NIPBL(25836), RUNX2(860), OFD1(8481), FAM123B(139285), CUL7(9820), ARSB(411), PLOD1(5351), EP300(2033), ARSE(415), PEX5(5830), MGP(4256), STRA6(64220), BRAF(673), FLNA(2316), B4GALT7(11285), FLNB(2317), MAP2K1(5604), MAP2K2(5605), MID1(4281), SOX9(6662), BUB1B(701), MITF(4286), MAPK10(5602), PMM2(5373), DNMT3B(1789), AGA(175), BCOR(54880), TSHB(7252), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), CTSD(1509), LBR(3930), GNPAT(8443), AGL(178), RECQL4(9401), KIAA1279(26128), HSPG2(3339), NHS(4810), WHCR(7467), CD96(10225), WHSC1(7468), ATIC(471), PAX3(5077), MED12(9968), PTPN11(5781), DHCR24(1718), TRIM37(4591), DHCR7(1717), AHI1(54806), FREM2(341640), PITX2(5308), SMARCAL1(50485), FRAS1(80144), ALG3(10195), HYAL1(3373), TP63(8626), KRAS(3845), TFAP2A(7020), EIF2AK3(9451), MMP2(4313), GBA(2629), TPM2(7169)]
ABNORMALITY OF THE NASAL CAVITY(HP:0010640)	[SHH(6469)]
ABNORMALITY OF THE NASAL MUCOSA(HP:0000433)	[ENG(2022), ACVRL1(94)]
ABNORMALITY OF THE NASAL ROOT(HP:0000423)	[PCNT(5116), SOST(50964), MYH3(4621), TNNI2(7136), ERCC6(2074), TNNT3(7140), EFNB1(1947), FLNA(2316), GLI3(2737), FLNB(2317), ALX3(257), SNAP29(9342), AP3B1(8546), TPM2(7169), SLC12A6(9990), ACY1(95)]
ABNORMALITY OF THE NASAL SEPTUM(HP:0000419)	[EP300(2033), NOG(9241), ALX3(257), TGIF1(7050), ARSE(415), SIX3(6496), CREBBP(1387), ZEB2(9839), RPS6KA3(6197), TFAP2A(7020), FLNB(2317)]
ABNORMALITY OF THE NASAL TIP(HP:0000436)	[MYCN(4613), FRAS1(80144), ATRX(546), TGIF1(7050), RAPSN(5913), BCOR(54880), ZEB2(9839), TP63(8626), PORCN(64840), HYLS1(219844), TFAP2B(7021), EFNB1(1947), TFAP2A(7020), FLNB(2317), RAB3GAP2(25782), ALX3(257), DOK7(285489), AGL(178), FREM2(341640)]
ABNORMALITY OF THE NASOLABIAL REGION(HP:0005289)	[NF1(4763), TNNI2(7136), MYH3(4621), TPM2(7169), TNNT3(7140)]
ABNORMALITY OF THE NASOPHARYNX(HP:0001739)	[ARSB(411), SH2D1A(4068), FGFR1(2260), SALL4(57167), ERCC4(2072), MGP(4256), NBN(4683), FGFR2(2263), EDA(1896), SGSH(6448), MED12(9968), MID1(4281), GNS(2799), AURKC(6795), WNT3(7473), BTK(695), MATR3(9782), GLB1(2720), ANKH(56172), SHH(6469), HGSNAT(138050), DCLRE1C(64421), TP63(8626), GALNS(2588), SERPING1(710), HOXD13(3239), GJA1(2697), PNP(4860), PLG(5340), CASP8(841), NAGLU(4669)]
ABNORMALITY OF THE NECK(HP:0000464)	[RET(5979), FBN2(2201), GUSB(2990), ATRX(546), MYH3(4621), MAPT(4137), DCR(1637), ESCO2(157570), CP(1356), NOG(9241), THRB(7068), HRAS(3265), CRLF1(9244), AURKC(6795), GNE(10020), GLB1(2720), CHRNA1(1134), PPARG(5468), SEPN1(57190), NKX2-1(7080), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), SLC5A5(6528), PTEN(5728), B3GALTL(145173), IL2RG(3561), DDR2(4921), CHRNG(1146), CREBBP(1387), CHRND(1144), RAB23(51715), TOR1A(1861), ATP7A(538), TRAPPC2(6399), LMNA(4000), RAPSN(5913), FGFR1(2260), MECP2(4204), SLC26A2(1836), COL6A1(1291), SOS1(6654), COL6A2(1292), IGBP1(3476), COL6A3(1293), FGD1(2245), GPC6(10082), COL2A1(1280), SLC26A4(5172), PEX26(55670), GDF6(392255), NEB(4703), FOXC2(2303), CNBP(7555), GNAS(2778), TRIP11(9321), TNNI2(7136), DRD2(1813), PEX3(8504), TNNT3(7140), NIPBL(25836), PABPN1(8106), LIFR(3977), EBP(10682), TRPV4(59341), DLL3(10683), OFD1(8481), FAM123B(139285), DOK7(285489), ALMS1(7840), CUL7(9820), GNPTG(84572), CHD7(55636), PAX8(7849), PEX19(5824), EP300(2033), TRIM32(22954), PEX5(5830), GATA1(2623), ERCC4(2072), FLNA(2316), MTM1(4534), FLNB(2317), IDS(3423), IYD(389434), BUB1B(701), NF1(4763), SLC35D1(23169), DIO1(1733), SGCE(8910), EMD(2010), TSHR(7253), LBR(3930), MKS1(54903), MRPS16(51021), KIAA1279(26128), THAP1(55145), MGAT2(4247), ATP1A3(478), HSPG2(3339), WHCR(7467), WHSC1(7468), ZMPSTE24(10269), EYA1(2138), MED12(9968), PTPN11(5781), CRYAB(1410), RMRP(6023), DYM(54808), WNT7A(7476), KRT85(3891), SMARCAL1(50485), HYLS1(219844), TFAP2A(7020), EFNB1(1947), ALDOA(226), SEMA3E(9723), DES(1674), PPP1R3A(5506), DUOXA2(405753), TPM2(7169), CHST3(9469), TPM3(7170), PNKD(25953), TPO(7173), TG(7038)]
ABNORMALITY OF THE NEUROMUSCULAR JUNCTION(HP:0003398)	[COLQ(8292), CHRNA1(1134), CHAT(1103), DOK7(285489), CHRNE(1145), CHRND(1144), RAPSN(5913), AGRN(375790), CHRNB1(1140), MUSK(4593)]
ABNORMALITY OF THE NIPPLES(HP:0004404)	[CD96(10225), INSR(3643), ZEB2(9839), NSD1(64324), TBX3(6926), ERCC6(2074), PTPN11(5781), IKBKG(8517), SOS1(6654), GNE(10020), PMM2(5373), FREM2(341640), UBR1(197131), GNPTAB(79158), FRAS1(80144), GPC3(2719), TP63(8626), PORCN(64840), PTEN(5728), B3GALTL(145173), TFAP2A(7020), NIPBL(25836), SEMA3E(9723), ACOX1(51), RAB3GAP2(25782), OFD1(8481), FAM123B(139285), CHRNG(1146), CHST3(9469), KIAA1279(26128), CPT2(1376), CHD7(55636)]
ABNORMALITY OF THE NOSE(HP:0000366)	[FBN1(2200), FKRP(79147), AVP(551), ATRX(546), TGIF1(7050), NPR2(4882), ATR(545), CCBE1(147372), HSD17B4(3295), DPM1(8813), EDARADD(128178), GLI3(2737), NOG(9241), HRAS(3265), CRLF1(9244), ADAMTS10(81794), EMG1(10436), UBR1(197131), GNPTAB(79158), GLB1(2720), CHRNA1(1134), GPC3(2719), DYNC2H1(79659), SEC23A(10484), ROR2(4920), DDR2(4921), ACOX1(51), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), CHRNG(1146), CHRND(1144), POR(5447), PROKR2(128674), DBH(1621), KCNJ11(3767), GP1BA(2811), FH(2271), UPF3B(65109), GP9(2815), GP1BB(2812), RAPSN(5913), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), SOS1(6654), FGD1(2245), KCNJ2(3759), ACY1(95), ACVRL1(94), EDAR(10913), DTNBP1(84062), GNAS(2778), TRIP11(9321), SMCR(6600), KAL1(3730), OPHN1(4983), TNNI2(7136), HPS1(3257), TNNT3(7140), NIPBL(25836), SNAP29(9342), HOXD13(3239), FAM123B(139285), DOK7(285489), CUL7(9820), PLA2G6(8398), TBXAS1(6916), TBX21(30009), GATA1(2623), PRPS1(5631), STRA6(64220), ERCC6(2074), BRAF(673), B4GALT7(11285), MAP2K1(5604), ITGB3(3690), MAP2K2(5605), BUB1B(701), BLOC1S3(388552), MAPK10(5602), DNMT3B(1789), TCOF1(6949), ITGA2B(3674), AGA(175), BCOR(54880), BLM(641), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), GNPAT(8443), AGL(178), RECQL4(9401), KIAA1279(26128), COL1A1(1277), JAG1(182), HPS6(79803), WHCR(7467), EHMT1(79813), WHSC1(7468), SIX3(6496), GGCX(2677), ERCC8(1161), PAX3(5077), ZMPSTE24(10269), EYA1(2138), INS(3630), MED12(9968), DHCR24(1718), DHCR7(1717), TRIM37(4591), AHI1(54806), WRN(7486), FAM20C(56975), WNT3(7473), SMARCAL1(50485), FRAS1(80144), SHH(6469), GCK(2645), MFN2(9927), PCNT(5116), F11(2160), SOST(50964), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), VWF(7450), WAS(7454), GBA(2629), F10(2159), F5(2153), MYCN(4613), P2RY12(64805), SCN9A(6335), SALL4(57167), MYH3(4621), NSD1(64324), HPS5(11234), MAPT(4137), EDA(1896), ESCO2(157570), ALX3(257), STK11(6794), USH1G(124590), MYH9(4627), GNE(10020), SC5DL(6309), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), ABCC8(6833), AP3B1(8546), SLC17A5(26503), CREBBP(1387), RAI1(10743), SLC12A6(9990), NAGA(4668), RAB23(51715), PTH1R(5745), CPT2(1376), MAN2B1(4125), UCHL1(7345), PDHA1(5160), LMNA(4000), NBN(4683), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), PRPS2(5634), SLC26A2(1836), GPC6(10082), IGF1R(3480), COL2A1(1280), FUCA1(2517), RELN(5649), PQBP1(10084), PEX26(55670), ANKH(56172), TBCE(6905), POMGNT1(55624), VPS13B(157680), TBP(6908), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), RUNX1(861), LIFR(3977), RUNX2(860), TAP1(6890), TAP2(6891), OFD1(8481), TAPBP(6892), MOGS(7841), CHD7(55636), PEX19(5824), ARSB(411), PLOD1(5351), EP300(2033), FOXE1(2304), PEX2(5828), ARSE(415), TWIST1(7291), PEX5(5830), RPS6KA3(6197), MGP(4256), FLNA(2316), FLNB(2317), MID1(4281), SOX9(6662), MITF(4286), NF1(4763), ENG(2022), PMM2(5373), LRPPRC(10128), TSHB(7252), CTSD(1509), LBR(3930), CTSK(1513), TNFSF11(8600), HSPG2(3339), TRPS1(7227), NHS(4810), CD96(10225), DNAI1(27019), ATIC(471), PTPN11(5781), FREM2(341640), PITX2(5308), ADAMTSL2(9719), ALG3(10195), STAT3(6774), HYAL1(3373), TP63(8626), KRAS(3845), HYLS1(219844), EFNB1(1947), SEMA3E(9723), PHYH(5264), MMP2(4313), HPS4(89781), TPM2(7169)]
ABNORMALITY OF THE OCULAR REGION(HP:0000284)	[FBN1(2200), AVP(551), RET(5979), FKRP(79147), DDB2(1643), ATRX(546), TGIF1(7050), SPINK5(11005), ATR(545), CCBE1(147372), TGFBR1(7046), HSD17B4(3295), DPM1(8813), EDARADD(128178), TGFB1(7040), DCR(1637), GLI3(2737), ABCA1(19), THRB(7068), HRAS(3265), ADAMTS10(81794), FANCD2(2177), RPGRIP1L(23322), DOLK(22845), FANCC(2176), FANCE(2178), GNPTAB(79158), GLB1(2720), CHRNA1(1134), GPC3(2719), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), DDR2(4921), MCPH1(79648), GJB2(2706), ACOX1(51), FKTN(2218), SLC9A6(10479), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRND(1144), POR(5447), PUS1(80324), WNT10A(80326), PROKR2(128674), SNRPN(6638), FH(2271), RAPSN(5913), ZEB2(9839), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), POLH(5429), BDNF(627), FGF10(2255), SOS1(6654), GNS(2799), CECR(1055), CYP27A1(1593), KCNJ2(3759), FGD1(2245), KCNJ1(3758), ACY1(95), EDAR(10913), ABHD5(51099), FOXC2(2303), FOXE3(2301), OPHN1(4983), TNNI2(7136), TNNT3(7140), NIPBL(25836), SIX6(4990), KDM5C(8242), SNAP29(9342), FAM123B(139285), DOK7(285489), SMPD1(6609), ABCA12(26154), ERCC2(2068), ERCC3(2071), TBX15(6913), PHOX2B(8929), GATA1(2623), PRPS1(5631), STRA6(64220), ERCC6(2074), BRAF(673), MAP2K1(5604), SGSH(6448), MAP2K2(5605), ITGB4(3691), BUB1B(701), SH3BP2(6452), MAPK10(5602), MFRP(83552), DNMT3B(1789), TCOF1(6949), BMP4(652), BCOR(54880), SOX18(54345), DKC1(1736), IRF6(3664), PARK7(11315), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), MKS1(54903), AGL(178), RECQL4(9401), RPE65(6121), PDHX(8050), XPC(7508), ZNF469(84627), COL1A1(1277), KIAA1279(26128), JAG1(182), RAB3GAP1(22930), XPA(7507), ITGA6(3655), POMT2(29954), GJB6(10804), WHCR(7467), SEPT9(10801), INSR(3643), EHMT1(79813), WHSC1(7468), SIX3(6496), MVK(4598), ZMPSTE24(10269), PAX3(5077), PAX2(5076), MED12(9968), DHCR24(1718), RMRP(6023), TRIM37(4591), DHCR7(1717), DGCR(1714), RAX(30062), AHI1(54806), FAM20C(56975), SH3PXD2B(285590), WNT3(7473), EVC(2121), GDNF(2668), NOP10(55505), FRAS1(80144), SHH(6469), HGSNAT(138050), ALG1(56052), BEST1(7439), PCNT(5116), SOST(50964), FANCA(2175), CHST14(113189), TFAP2B(7021), TFAP2A(7020), ALDOA(226), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), ALPL(249), LEPRE1(64175), MYCN(4613), SCN9A(6335), CLDN1(9076), SALL4(57167), MYH3(4621), NSD1(64324), ANCR(282), MAPT(4137), EDN3(1908), EDNRB(1910), EDA(1896), IKBKG(8517), ESCO2(157570), CP(1356), ALX3(257), CDKL5(6792), GUCY2D(3000), PTCH1(5727), GNE(10020), SC5DL(6309), UPK3A(7380), TMEM216(51259), PEX10(5192), PEX14(5195), SAT1(6303), LRP2(4036), PEX13(5194), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), PEPD(5184), AP3B1(8546), SLC17A5(26503), CREBBP(1387), SLC12A6(9990), RAB23(51715), NAGLU(4669), PTH1R(5745), MAN2B1(4125), ADAMTS2(9509), TOR1A(1861), HCCS(3052), APOB(338), APOA2(336), NHP2(55651), NBN(4683), INPP5E(56623), MECP2(4204), COL11A2(1302), COL11A1(1301), PRPS2(5634), COL5A2(1290), LPL(4023), COL5A1(1289), NDN(4692), PHF6(84295), DSP(1832), NDP(4693), IGBP1(3476), GPC6(10082), FUCA1(2517), UBE3A(7337), FTL(2512), PQBP1(10084), PEX26(55670), TBCE(6905), VPS13B(157680), TBX1(6899), PORCN(64840), PEX3(8504), LIFR(3977), RUNX2(860), EBP(10682), LIPA(3988), OFD1(8481), PANK2(80025), MOGS(7841), CHD7(55636), PEX19(5824), ABCD3(5825), PLOD1(5351), EP300(2033), PEX2(5828), TWIST1(7291), LDLR(3949), LARGE(9215), PEX5(5830), RPS6KA3(6197), FLNA(2316), FLNB(2317), SOX10(6663), MID1(4281), SOX9(6662), SOX2(6657), ATXN3(4287), MITF(4286), TTPA(7274), NF1(4763), POMT1(10585), LBR(3930), ASCL1(429), ARX(170302), HSPG2(3339), TRPS1(7227), NHS(4810), CD96(10225), KRT17(3872), LMBRD1(55788), CDH3(1001), PTPN11(5781), FREM2(341640), HR(55806), KRT6B(3854), ADAMTSL2(9719), ST14(6768), ALG3(10195), STAT3(6774), TP63(8626), KRAS(3845), HYLS1(219844), SEMA3E(9723), EFNB1(1947), MMP2(4313), TPM2(7169), PVRL1(5818)]
ABNORMALITY OF THE ODONTOID PROCESS(HP:0003310)	[ARSB(411), GUSB(2990), COMP(1311), GALNS(2588), DDR2(4921), EIF2AK3(9451), FLNA(2316), FLNB(2317), TRPV4(59341), DLL3(10683), DYM(54808), FGD1(2245), COL2A1(1280), GNPTAB(79158), GLB1(2720)]
ABNORMALITY OF THE OPTIC NERVE(HP:0000587)	[FKRP(79147), AUH(549), ATRX(546), SALL4(57167), GJC2(57165), DNAJC19(131118), TGFB1(7040), GLI3(2737), ATXN7(6314), IKBKG(8517), HESX1(8820), COX15(1355), ATXN1(6310), GLB1(2720), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), NUP62(23636), MCOLN1(57192), SURF1(6834), C10orf2(56652), ACOX1(51), FKTN(2218), C20orf7(79133), GJA1(2697), CNNM4(26504), NAGA(4668), RAB23(51715), NDUFS7(374291), FH(2271), SDHA(6389), INPP5E(56623), FGFR2(2263), BCS1L(617), AAAS(8086), NDP(4693), NDUFA1(4694), NDUFA2(4695), PEX26(55670), C8orf38(137682), OPA1(4976), POMGNT1(55624), VPS13B(157680), COX6B1(1340), PORCN(64840), NDUFA11(126328), NDUFAF4(29078), PEX3(8504), NDUFS1(4719), NIPBL(25836), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), SNAP29(9342), PANK2(80025), TYR(7299), NDUFS6(4726), FASTKD2(22868), NDUFS4(4724), NDUFS8(4728), ARSA(410), PEX19(5824), ABCD3(5825), BTD(686), PEX2(5828), LARGE(9215), ERCC3(2071), PEX5(5830), PRPS1(5631), SPG7(6687), ERCC6(2074), PLP1(5354), NDUFAF2(91942), BRAF(673), MAP2K1(5604), IDS(3423), MAP2K2(5605), SOX2(6657), SH3BP2(6452), MITF(4286), POMT1(10585), TCIRG1(10312), GALC(2581), ASPA(443), NDUFAF3(25915), MFSD8(256471), DKC1(1736), DLD(1738), L2HGDH(79944), ARX(170302), AGXT(189), RECQL4(9401), RPIA(22934), PDHX(8050), OPA3(80207), RAB3GAP1(22930), POMT2(29954), TNFSF11(8600), PAX6(5080), WFS1(7466), ERCC8(1161), ST3GAL5(8869), ATIC(471), PAX2(5076), EIF2B2(8892), EIF2B5(8893), CA2(760), PPT1(5538), EIF2B4(8890), EIF2B3(8891), EIF2B1(1967), ALG3(10195), MFN2(9927), VCAN(1462), SOST(50964), KRAS(3845), TIMM8A(1678), CLN3(1201), NOTCH3(4854)]
ABNORMALITY OF THE ORAL CAVITY(HP:0000163)	[FBN1(2200), FBN2(2201), FKRP(79147), TINF2(26277), CCBE1(147372), HSD17B4(3295), H19(283120), DPM1(8813), EDARADD(128178), SLC35C1(55343), KCNQ1OT1(10984), HRAS(3265), PPIB(5479), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), LYST(1130), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), FKTN(2218), CHRNG(1146), CHRNE(1145), CHRND(1144), PUS1(80324), ACTA1(58), CHRNB1(1140), TNFRSF11A(8792), WNT10A(80326), ACTB(60), SNRPN(6638), FH(2271), UPF3B(65109), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CDKN1C(1028), FAM83H(286077), FGF10(2255), SOS1(6654), FGF3(2248), CECR(1055), FGD1(2245), ACVRL1(94), EDAR(10913), GDF6(392255), ACVR1(90), SMN1(6606), FOXC2(2303), HPS1(3257), WNK1(65125), HOXD13(3239), CTSC(1075), SMS(6611), ERBB3(2065), TRIM32(22954), ERCC4(2072), STRA6(64220), ERCC6(2074), MTM1(4534), MAP2K1(5604), MAP2K2(5605), BLOC1S3(388552), SH3BP2(6452), MAPK10(5602), HOXA2(3199), AGA(175), SOX18(54345), MSX2(4488), AHCY(191), COL1A2(1278), ZNF469(84627), COL1A1(1277), MSX1(4487), GJB6(10804), WHCR(7467), SEPT9(10801), SIX3(6496), WHSC1(7468), ERCC8(1161), CEP290(80184), MUSK(4593), EYA1(2138), MED12(9968), TRIM37(4591), WNT3(7473), HEXB(3074), EVC(2121), SMARCAL1(50485), NOP10(55505), CLCN7(1186), FRAS1(80144), SHH(6469), ALDOB(229), SHOX(6473), ALDH3A2(224), WAS(7454), GORAB(92344), ALPL(249), F10(2159), LEPRE1(64175), SCN9A(6335), CLDN1(9076), ANCR(282), NSD1(64324), HPS5(11234), VDR(7421), FERMT1(55612), ESCO2(157570), ALX3(257), AMELY(266), GNE(10020), AMELX(265), SC5DL(6309), TMEM216(51259), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), SLC17A5(26503), CREBBP(1387), CNNM4(26504), SLC12A6(9990), CPT2(1376), MAN2B1(4125), COL17A1(1308), INPP5E(56623), NHP2(55651), MECP2(4204), COL11A2(1302), COL11A1(1301), COL5A2(1290), AIRE(326), COL6A1(1291), APC(324), COL5A1(1289), COL7A1(1294), IGF1(3479), IGBP1(3476), COL6A2(1292), COL6A3(1293), GPC6(10082), COL2A1(1280), UBE3A(7337), COL3A1(1281), FUCA1(2517), TTC8(123016), PEX26(55670), PQBP1(10084), BSCL2(26580), POMGNT1(55624), UBB(7314), VPS13B(157680), UBA1(7317), ABCC6(368), GAA(2548), CHD7(55636), ARSB(411), PLOD1(5351), FOXE1(2304), LARGE(9215), TWIST1(7291), RPS6KA3(6197), FLNA(2316), FLNB(2317), IDS(3423), MID1(4281), FMR1(2332), TSPYL1(7259), TSHB(7252), TSC1(7248), TSC2(7249), ENAM(10117), ARX(170302), MBTPS2(51360), PLG(5340), CTSK(1513), MGAT2(4247), PLEC(5339), CTDP1(9150), TRPS1(7227), HSPG2(3339), CD96(10225), RYR1(6261), LMBRD1(55788), PITX2(5308), ALG3(10195), PHEX(5251), HYAL1(3373), HYLS1(219844), ANTXR2(118429), MMP2(4313), HPS4(89781), TPM2(7169), SH3TC2(79628), RET(5979), TGIF1(7050), ATRX(546), ATR(545), TGFBR1(7046), TGFB1(7040), GLI3(2737), DCR(1637), SATB2(23314), GLE1(2733), CRLF1(9244), ADAMTS10(81794), RPGRIP1L(23322), EMG1(10436), GLB1(2720), GPC3(2719), CRTAP(10491), SEC23A(10484), ROR2(4920), DDR2(4921), GJB2(2706), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), PROKR2(128674), DBH(1621), ATP7A(538), MKKS(8195), GP1BA(2811), RAPSN(5913), OCRL(4952), FGF23(8074), CYP27B1(1594), KCNJ2(3759), DTNBP1(84062), GNAS(2778), BBS1(582), KAL1(3730), TNFRSF11B(4982), BBS2(583), OPHN1(4983), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), BBS10(79738), KDM5C(8242), FAM123B(139285), DOK7(285489), RB1(5925), PLA2G6(8398), TBX15(6913), ARL6(84100), GATA1(2623), TBX3(6926), B4GALT7(11285), BRAF(673), ITGB3(3690), ITGB4(3691), BUB1B(701), ITGB2(3689), ALS2(57679), KL(9365), TCIRG1(10312), DNMT3B(1789), TCOF1(6949), BMP4(652), ITGA2B(3674), BCOR(54880), GALNS(2588), DKC1(1736), IRF6(3664), GALNT3(2591), BLM(641), FOXL2(668), MKS1(54903), DLX3(1747), C20orf54(113278), GNPAT(8443), RECQL4(9401), PDHX(8050), HPS6(79803), POMT2(29954), ITGA6(3655), EHMT1(79813), INSR(3643), ZMPSTE24(10269), PAX3(5077), DHCR24(1718), RMRP(6023), CA2(760), DHCR7(1717), DGCR(1714), FAM20C(56975), DYM(54808), SH3PXD2B(285590), SAMD9(54809), PAK3(5063), ALG1(56052), PCNT(5116), TERC(7012), CLCF1(23529), TERT(7015), SOST(50964), TFAP2A(7020), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), CHST3(9469), MYCN(4613), TBX4(9496), BBS5(129880), MYH3(4621), EDA(1896), IKBKG(8517), IKBKAP(8518), CDKL5(6792), MYH8(4626), AURKC(6795), PTCH1(5727), SEPN1(57190), LRP5(4041), PTEN(5728), VSX1(30813), AP3B1(8546), NAGA(4668), RAB23(51715), PTH1R(5745), SUOX(6821), ADAMTS2(9509), LMNA(4000), EVC2(132884), NBN(4683), LMX1B(4010), SLC26A2(1836), DSP(1832), NDN(4692), DSPP(1834), CBS(875), NEB(4703), ANKH(56172), TBCE(6905), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), LIFR(3977), RUNX2(860), OFD1(8481), BBS7(55212), ALMS1(7840), MOGS(7841), DPAGT1(1798), PAX8(7849), PEX19(5824), EP300(2033), ABCD3(5825), CD40LG(959), PEX2(5828), KLK4(9622), PEX5(5830), SOX9(6662), ENG(2022), NSDHL(50814), SLC35D1(23169), POMT1(10585), LAMB3(3914), LAMC2(3918), D2HGDH(728294), LAMA3(3909), LBR(3930), TNFSF11(8600), NHS(4810), KRT17(3872), CDH3(1001), PTPN11(5781), FREM2(341640), KRT6B(3854), ST14(6768), STAT3(6774), TP63(8626), KRAS(3845), EFNB1(1947), SEMA3E(9723), AGPAT2(10555), KRT14(3861), PVRL1(5818)]
ABNORMALITY OF THE ORBITAL REGION(HP:0000315)	[FBN1(2200), AVP(551), RET(5979), FKRP(79147), ATRX(546), TGIF1(7050), MYH3(4621), SALL4(57167), CCBE1(147372), TGFBR1(7046), NSD1(64324), ANCR(282), HSD17B4(3295), DPM1(8813), TGFB1(7040), GLI3(2737), EDA(1896), IKBKG(8517), ESCO2(157570), ALX3(257), THRB(7068), HRAS(3265), CDKL5(6792), GUCY2D(3000), ADAMTS10(81794), PTCH1(5727), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), GNE(10020), FANCE(2178), GLB1(2720), CHRNA1(1134), UPK3A(7380), GPC3(2719), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), CRTAP(10491), LRP2(4036), PEX1(5189), SEC23A(10484), LRP5(4041), B3GALTL(145173), ROR2(4920), PEPD(5184), DDR2(4921), ACOX1(51), FKTN(2218), GJA1(2697), CHRNG(1146), CHRND(1144), CREBBP(1387), POR(5447), SLC12A6(9990), PROKR2(128674), PTH1R(5745), FH(2271), HCCS(3052), RAPSN(5913), ZEB2(9839), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), MECP2(4204), COL11A2(1302), COL11A1(1301), PRPS2(5634), FGF10(2255), SOS1(6654), PHF6(84295), NDP(4693), CECR(1055), KCNJ2(3759), FGD1(2245), KCNJ1(3758), ACY1(95), FUCA1(2517), UBE3A(7337), PEX26(55670), FOXC2(2303), TBCE(6905), FOXE3(2301), OPHN1(4983), TBX1(6899), PORCN(64840), PEX3(8504), NIPBL(25836), SIX6(4990), RUNX2(860), EBP(10682), OFD1(8481), SNAP29(9342), FAM123B(139285), DOK7(285489), CHD7(55636), PEX19(5824), ABCD3(5825), EP300(2033), ABCA12(26154), PEX2(5828), TWIST1(7291), LARGE(9215), PEX5(5830), ERCC3(2071), TBX15(6913), RPS6KA3(6197), PRPS1(5631), STRA6(64220), ERCC6(2074), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), MID1(4281), BUB1B(701), SOX9(6662), SOX2(6657), ATXN3(4287), SH3BP2(6452), NF1(4763), POMT1(10585), MFRP(83552), DNMT3B(1789), TCOF1(6949), BMP4(652), BCOR(54880), FOXL2(668), LBR(3930), MKS1(54903), ARX(170302), AGL(178), RECQL4(9401), RPE65(6121), PDHX(8050), JAG1(182), RAB3GAP1(22930), POMT2(29954), NHS(4810), WHCR(7467), CD96(10225), SEPT9(10801), INSR(3643), EHMT1(79813), WHSC1(7468), SIX3(6496), PAX3(5077), ZMPSTE24(10269), PAX2(5076), MED12(9968), PTPN11(5781), RMRP(6023), TRIM37(4591), DHCR7(1717), DGCR(1714), RAX(30062), FAM20C(56975), SH3PXD2B(285590), WNT3(7473), FREM2(341640), EVC(2121), PITX2(5308), FRAS1(80144), SHH(6469), ALG1(56052), STAT3(6774), BEST1(7439), SOST(50964), FANCA(2175), KRAS(3845), HYLS1(219844), TFAP2B(7021), SEMA3E(9723), TFAP2A(7020), EFNB1(1947), EIF2AK3(9451), MMP2(4313), GBA(2629), ALPL(249), LEPRE1(64175)]
ABNORMALITY OF THE OUTER EAR(HP:0000356)	[MYCN(4613), FBN1(2200), RET(5979), FKRP(79147), FBN2(2201), ATRX(546), ATR(545), SALL4(57167), CCBE1(147372), NSD1(64324), HSD17B4(3295), EDN3(1908), SLC16A2(6567), GLI3(2737), DCR(1637), ESCO2(157570), ALX3(257), HRAS(3265), GNE(10020), CHRNA1(1134), UPK3A(7380), SALL1(6299), GPC3(2719), TMEM216(51259), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), SEC23A(10484), PEX1(5189), B3GALTL(145173), ROR2(4920), SLC6A8(6535), ACOX1(51), FKTN(2218), SLC9A6(10479), RAB3GAP2(25782), AP3B1(8546), GJA1(2697), CHRNG(1146), CHRNE(1145), CHRND(1144), CREBBP(1387), POR(5447), SLC12A6(9990), RAB23(51715), CPT2(1376), MAN2B1(4125), RAPSN(5913), ZEB2(9839), FGFR1(2260), FGFR3(2261), INPP5E(56623), NBN(4683), FGFR2(2263), MECP2(4204), COL11A1(1301), SLC26A2(1836), BDNF(627), COL5A2(1290), COL6A1(1291), FGF10(2255), COL5A1(1289), SOS1(6654), PHF6(84295), FGF3(2248), CECR(1055), COL6A2(1292), IGBP1(3476), COL6A3(1293), KCNJ2(3759), FGD1(2245), KCNJ1(3758), COL3A1(1281), PQBP1(10084), PEX26(55670), NEB(4703), ABHD5(51099), TBCE(6905), OPHN1(4983), TBX1(6899), PORCN(64840), PEX3(8504), NIPBL(25836), LIFR(3977), EBP(10682), ZFPM2(23414), KDM5C(8242), OFD1(8481), FAM123B(139285), DOK7(285489), CHD7(55636), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), TWIST1(7291), LARGE(9215), PEX5(5830), TBX15(6913), RPS6KA3(6197), GATA1(2623), PHOX2B(8929), MGP(4256), STRA6(64220), ERCC6(2074), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), BUB1B(701), SOX9(6662), MAPK10(5602), NF1(4763), PMM2(5373), POMT1(10585), NKX2-5(1482), FMR1(2332), DNMT3B(1789), TCOF1(6949), HOXA2(3199), BMP4(652), BLM(641), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), CTSD(1509), LBR(3930), MKS1(54903), ASCL1(429), RECQL4(9401), MRPS16(51021), COL1A1(1277), KIAA1279(26128), JAG1(182), RAB3GAP1(22930), MGAT2(4247), POMT2(29954), HSPG2(3339), TRPS1(7227), WHCR(7467), CD96(10225), INSR(3643), EHMT1(79813), WHSC1(7468), ERCC8(1161), ATIC(471), MVK(4598), LMBRD1(55788), ZMPSTE24(10269), EYA1(2138), DHCR24(1718), MED12(9968), PTPN11(5781), GDF1(2657), DHCR7(1717), DGCR(1714), AHI1(54806), FAM20C(56975), WNT3(7473), FREM2(341640), EVC(2121), GDNF(2668), ADAMTSL2(9719), FRAS1(80144), ALG3(10195), CLCF1(23529), PCNT(5116), TP63(8626), CHST14(113189), KRAS(3845), HYLS1(219844), TFAP2B(7021), SEMA3E(9723), MMACHC(25974), TFAP2A(7020), EIF2AK3(9451), GBA(2629)]
ABNORMALITY OF THE OVARIES(HP:0000137)	[MKKS(8195), INSR(3643), LMNA(4000), BBS5(129880), TRIM32(22954), ATM(472), ARL6(84100), HNF1A(6927), NBN(4683), CEP290(80184), BBS12(166379), AIRE(326), PTPN11(5781), STK11(6794), PTCH1(5727), PMM2(5373), CYP19A1(1588), BBS9(27241), TTC8(123016), BSCL2(26580), PPARG(5468), BBS1(582), BBS2(583), BBS4(585), PTEN(5728), DCAF17(80067), WT1(7490), PPP1R3A(5506), BBS10(79738), MKS1(54903), BBS7(55212), DHH(50846), POR(5447), AGPAT2(10555), FST(10468)]
ABNORMALITY OF THE PALMAR CREASES(HP:0010490)	[PEX19(5824), ABCD3(5825), EP300(2033), WHCR(7467), PEX2(5828), EHMT1(79813), WHSC1(7468), PEX5(5830), ATR(545), RPS6KA3(6197), GATA1(2623), CCBE1(147372), GDF5(8200), BRAF(673), B4GALT7(11285), DCR(1637), MAP2K1(5604), MED12(9968), MAP2K2(5605), NOG(9241), HRAS(3265), FGD1(2245), UBR1(197131), PEX26(55670), BMP4(652), VPS13B(157680), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), KRAS(3845), PEX3(8504), B3GALTL(145173), TFAP2A(7020), NIPBL(25836), LIFR(3977), OFD1(8481), CREBBP(1387), TPM2(7169), DPAGT1(1798), CHST3(9469)]
ABNORMALITY OF THE PALPEBRAL FISSURES(HP:0008050)	[MYCN(4613), FBN1(2200), RET(5979), ATRX(546), ATR(545), SALL4(57167), MYH3(4621), NSD1(64324), HSD17B4(3295), EDN3(1908), DPM1(8813), GLI3(2737), DCR(1637), HRAS(3265), SC5DL(6309), GPC3(2719), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), PEX7(5191), B3GALTL(145173), PTEN(5728), ROR2(4920), MCPH1(79648), RAB3GAP2(25782), GJA1(2697), AP3B1(8546), CHRNG(1146), CREBBP(1387), ADAMTS2(9509), SNRPN(6638), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), NBN(4683), FGFR2(2263), BDNF(627), FGF10(2255), SOS1(6654), NDN(4692), PHF6(84295), CECR(1055), IGBP1(3476), FGD1(2245), GPC6(10082), KCNJ2(3759), PEX26(55670), PQBP1(10084), VPS13B(157680), TBX1(6899), TNNI2(7136), PEX3(8504), TNNT3(7140), LIFR(3977), EBP(10682), OFD1(8481), SNAP29(9342), KDM5C(8242), DOK7(285489), MOGS(7841), CHD7(55636), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), TBX15(6913), PEX5(5830), RPS6KA3(6197), PHOX2B(8929), GATA1(2623), STRA6(64220), ERCC6(2074), BRAF(673), FLNA(2316), MAP2K1(5604), MAP2K2(5605), SOX9(6662), BUB1B(701), MAPK10(5602), TCOF1(6949), BCOR(54880), FOXL2(668), ASCL1(429), RECQL4(9401), KIAA1279(26128), HSPG2(3339), CD96(10225), EHMT1(79813), MVK(4598), PAX3(5077), ZMPSTE24(10269), MED12(9968), PTPN11(5781), DHCR24(1718), DGCR(1714), GDNF(2668), ADAMTSL2(9719), PCNT(5116), TP63(8626), CHST14(113189), KRAS(3845), TFAP2A(7020), EFNB1(1947), SEMA3E(9723), EIF2AK3(9451), ATP6V0A2(23545), TPM2(7169)]
ABNORMALITY OF THE PANCREAS(HP:0001732)	[MYCN(4613), ERCC4(2072), NSD1(64324), H19(283120), SLC16A1(6566), CTNS(1497), KCNQ1OT1(10984), MANF(7873), FAH(2184), SLC7A7(9056), REG1A(5967), HNF1B(6928), STK11(6794), AURKC(6795), UBR1(197131), GPC3(2719), PKHD1(5314), DLD(1738), ABCC8(6833), LBR(3930), DBT(1629), SPINK1(6690), ATP8B1(5205), RECQL4(9401), PDX1(3651), KCNJ11(3767), PRSS1(5644), CD96(10225), INSR(3643), LMNA(4000), CDC73(79577), CDKN1C(1028), PAX4(5078), CDKN2A(1029), APOC2(344), MUT(4594), INS(3630), LPL(4023), SBDS(51119), SLC17A3(10786), CBS(875), MEN1(4221), NPHP3(27031), BSCL2(26580), SLC37A4(2542), GCK(2645), G6PC(2538), EIF2AK3(9451), VHL(7428), PCCB(5096), BCKDHA(593), CCND1(595), CFTR(1080), BCKDHB(594), AGPAT2(10555), CASR(846), TP53(7157), PCCA(5095)]
ABNORMALITY OF THE PANCREATIC ISLET CELLS(HP:0006476)	[INS(3630), LBR(3930), FAH(2184), KCNJ11(3767), GPC3(2719), GCK(2645), INSR(3643), MEN1(4221), PAX4(5078), ABCC8(6833), SLC16A1(6566), EIF2AK3(9451)]
ABNORMALITY OF THE PARATHYROID GLANDS(HP:0000828)	[RET(5979), GNAS(2778), TBCE(6905), PTH(5741), TBX1(6899), VDR(7421), CDC73(79577), GNASAS(149775), SEMA3E(9723), AIRE(326), GATA3(2625), GCM2(9247), DGCR(1714), CYP27B1(1594), ATP7B(540), PTH1R(5745), MEN1(4221), CASR(846), STX16(8675), COL4A5(1287), CHD7(55636)]
ABNORMALITY OF THE PARIETAL BONE(HP:0002696)	[PTPN11(5781), ALX4(60529), EP300(2033), MSX2(4488), GJA1(2697), TWIST1(7291), CREBBP(1387), FGFR2(2263), RUNX2(860)]
ABNORMALITY OF THE PATELLA(HP:0003045)	[EBP(10682), EP300(2033), FBN2(2201), TBX4(9496), CHRNG(1146), CREBBP(1387), RECQL4(9401), GDF5(8200), RAB23(51715), WNT7A(7476), LMX1B(4010)]
ABNORMALITY OF THE PELVIS(HP:0002644)	[FBN1(2200), VCP(7415), RET(5979), FBN2(2201), TBX4(9496), MYOT(9499), GUSB(2990), ATRX(546), ATR(545), MYH3(4621), CCBE1(147372), NSD1(64324), GLRB(2743), GLRA1(2741), GLI3(2737), DCR(1637), ESCO2(157570), MATN3(4148), MYH8(4626), AURKC(6795), IHH(3549), GNPTAB(79158), GLB1(2720), CANT1(124583), GPC3(2719), CRTAP(10491), SEC23A(10484), LRP5(4041), B3GALTL(145173), DDR2(4921), AP3B1(8546), GJA1(2697), CHRNG(1146), CREBBP(1387), SIL1(64374), ACTA1(58), RAB23(51715), PTH1R(5745), TNFRSF11A(8792), ACTB(60), ATP7A(538), TRAPPC2(6399), MKKS(8195), COMP(1311), LMNA(4000), RAPSN(5913), FGFR1(2260), COL9A3(1299), FGFR3(2261), EVC2(132884), OCRL(4952), GDF5(8200), COL9A1(1297), FGFR2(2263), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), COL6A1(1291), HOXA11(3207), COL6A2(1292), SBDS(51119), COL6A3(1293), GPC6(10082), COL2A1(1280), FUCA1(2517), ACVR1(90), ANKH(56172), ADA(100), TRIP11(9321), PORCN(64840), TNNT1(7138), LIFR(3977), RUNX2(860), EBP(10682), TRPV4(59341), OFD1(8481), DOK7(285489), CUL7(9820), GNPTG(84572), ARSB(411), EP300(2033), TWIST1(7291), TRIM32(22954), TBX15(6913), RPS6KA3(6197), GATA1(2623), ERCC4(2072), SGCB(6443), ERCC6(2074), FLNA(2316), B4GALT7(11285), FLNB(2317), SOX9(6662), SLC35D1(23169), NSDHL(50814), ANO5(203859), TCIRG1(10312), LAMB1(3912), GALNS(2588), LBR(3930), GNPAT(8443), COL1A2(1278), SLC6A5(9152), ZNF469(84627), ACAN(176), COL1A1(1277), CTSK(1513), MGAT2(4247), BMPR1B(658), HSPG2(3339), TRPS1(7227), EXT2(2132), WHCR(7467), RYR1(6261), CD96(10225), SQSTM1(8878), WHSC1(7468), EXT1(2131), ERCC8(1161), MMP13(4322), EYA1(2138), GPHN(10243), RMRP(6023), DYM(54808), WNT3(7473), PRG4(10216), FREM2(341640), WNT7A(7476), EVC(2121), SMARCAL1(50485), ADAMTSL2(9719), FRAS1(80144), CLCN7(1186), PHEX(5251), PCNT(5116), SOST(50964), WISP3(8838), SHOX(6473), EIF2AK3(9451), ATP6V0A2(23545), MMP2(4313), TPM2(7169), CHST3(9469)]
ABNORMALITY OF THE PENIS(HP:0000036)	[DCX(1641), ATRX(546), BBS5(129880), ATR(545), H19(283120), DNAJC19(131118), GLI3(2737), FERMT1(55612), ESCO2(157570), UBR1(197131), BBS9(27241), SALL1(6299), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), B3GALTL(145173), PTEN(5728), ROR2(4920), DCAF17(80067), RAB3GAP2(25782), CHRNG(1146), CREBBP(1387), POR(5447), MKKS(8195), CYP11A1(1583), SNRPN(6638), HCCS(3052), ZEB2(9839), FGFR1(2260), EVC2(132884), FGFR3(2261), INPP5E(56623), BBS12(166379), FGF10(2255), CUL4B(8450), NDN(4692), DSP(1832), PHF6(84295), POLA1(5422), HOXA13(3209), CYP21A2(1589), TTC8(123016), PEX26(55670), PQBP1(10084), CYP11B1(1584), TBCE(6905), UBA1(7317), BBS1(582), KAL1(3730), BBS2(583), OPHN1(4983), BBS4(585), PEX3(8504), NIPBL(25836), BBS10(79738), OFD1(8481), KDM5C(8242), BBS7(55212), HOXD13(3239), CUL7(9820), AR(367), CHD7(55636), PEX19(5824), EP300(2033), TRIM32(22954), PEX5(5830), ARL6(84100), TBX3(6926), ERCC6(2074), FLNA(2316), MID1(4281), BUB1B(701), SOX2(6657), HNF1B(6928), BMP4(652), TSPYL1(7259), DKC1(1736), SRD5A2(6716), MKS1(54903), ARX(170302), WHCR(7467), INSR(3643), WHSC1(7468), ERCC8(1161), CEP290(80184), ZMPSTE24(10269), MED12(9968), PTPN11(5781), DHCR7(1717), FREM2(341640), EVC(2121), PITX2(5308), STAR(6770), FRAS1(80144), PCNT(5116), TP63(8626), HYLS1(219844), TFAP2A(7020), EFNB1(1947), SEMA3E(9723)]
ABNORMALITY OF THE PERICARDIUM(HP:0001697)	[MYBPC3(4607), TRIM37(4591), MEFV(4210), LMNA(4000), CCBE1(147372), PMM2(5373), PRG4(10216)]
ABNORMALITY OF THE PERIORBITAL REGION(HP:0000606)	[FBN1(2200), RET(5979), DDB2(1643), ATRX(546), SPINK5(11005), ATR(545), CCBE1(147372), HSD17B4(3295), DPM1(8813), EDARADD(128178), GLI3(2737), DCR(1637), ABCA1(19), HRAS(3265), DOLK(22845), GNPTAB(79158), CHRNA1(1134), GPC3(2719), B3GALTL(145173), ROR2(4920), GJB2(2706), MCPH1(79648), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), CHRNG(1146), CHRND(1144), PUS1(80324), WNT10A(80326), SNRPN(6638), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), FGFR2(2263), POLH(5429), BDNF(627), FGF10(2255), SOS1(6654), GNS(2799), CYP27A1(1593), CECR(1055), FGD1(2245), KCNJ2(3759), EDAR(10913), ABHD5(51099), FOXC2(2303), TNNI2(7136), TNNT3(7140), NIPBL(25836), SNAP29(9342), KDM5C(8242), FAM123B(139285), DOK7(285489), SMPD1(6609), ERCC2(2068), TBX15(6913), PHOX2B(8929), GATA1(2623), PRPS1(5631), STRA6(64220), ERCC6(2074), BRAF(673), MAP2K1(5604), SGSH(6448), MAP2K2(5605), ITGB4(3691), BUB1B(701), MAPK10(5602), DNMT3B(1789), TCOF1(6949), BCOR(54880), SOX18(54345), DKC1(1736), IRF6(3664), PARK7(11315), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), RECQL4(9401), XPC(7508), PDHX(8050), ZNF469(84627), KIAA1279(26128), COL1A1(1277), XPA(7507), ITGA6(3655), GJB6(10804), WHCR(7467), EHMT1(79813), SEPT9(10801), WHSC1(7468), MVK(4598), PAX3(5077), ZMPSTE24(10269), MED12(9968), DHCR24(1718), RMRP(6023), DHCR7(1717), DGCR(1714), RAX(30062), AHI1(54806), GDNF(2668), NOP10(55505), FRAS1(80144), HGSNAT(138050), PCNT(5116), CHST14(113189), TFAP2B(7021), TFAP2A(7020), ALDOA(226), EIF2AK3(9451), ATP6V0A2(23545), MYCN(4613), CLDN1(9076), SALL4(57167), MYH3(4621), NSD1(64324), MAPT(4137), EDN3(1908), EDNRB(1910), EDA(1896), ESCO2(157570), CP(1356), ALX3(257), GNE(10020), SC5DL(6309), PEX10(5192), SAT1(6303), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), PTEN(5728), AP3B1(8546), SLC17A5(26503), CREBBP(1387), RAB23(51715), NAGLU(4669), MAN2B1(4125), TOR1A(1861), ADAMTS2(9509), APOB(338), APOA2(336), NBN(4683), INPP5E(56623), NHP2(55651), COL11A1(1301), PRPS2(5634), COL5A2(1290), COL5A1(1289), LPL(4023), NDN(4692), DSP(1832), PHF6(84295), IGBP1(3476), GPC6(10082), FUCA1(2517), FTL(2512), PEX26(55670), PQBP1(10084), VPS13B(157680), TBX1(6899), PEX3(8504), LIFR(3977), EBP(10682), LIPA(3988), PANK2(80025), OFD1(8481), MOGS(7841), CHD7(55636), PEX19(5824), EP300(2033), PLOD1(5351), ABCD3(5825), PEX2(5828), LDLR(3949), PEX5(5830), RPS6KA3(6197), FLNA(2316), SOX10(6663), MID1(4281), SOX9(6662), MITF(4286), TTPA(7274), ASCL1(429), ARX(170302), HSPG2(3339), TRPS1(7227), CD96(10225), KRT17(3872), LMBRD1(55788), CDH3(1001), PTPN11(5781), FREM2(341640), HR(55806), KRT6B(3854), ADAMTSL2(9719), ST14(6768), ALG3(10195), TP63(8626), KRAS(3845), EFNB1(1947), SEMA3E(9723), TPM2(7169), PVRL1(5818)]
ABNORMALITY OF THE PERIPHERAL NERVOUS SYSTEM(HP:0000759)	[SH3TC2(79628), PGK1(5230), FKRP(79147), MYOT(9499), CHAT(1103), SCN9A(6335), CPOX(1371), PPOX(5498), ATXN8(724066), PGAM2(5224), SACS(26278), SETX(23064), GAN(8139), GJC2(57165), HSD17B4(3295), DCTN1(1639), SLC16A1(6566), EDNRB(1910), FAH(2184), ATXN8OS(6315), GCLC(2729), RAB7A(7879), TYMP(1890), MATR3(9782), ATXN2(6311), SBF2(81846), COLQ(8292), CHRNA1(1134), NIPA1(123606), YARS(8565), LYST(1130), KIF1B(23095), HSPB1(3315), KIF5A(3798), PEX1(5189), GJB1(2705), C10orf2(56652), PFKM(5213), CACNA1A(773), MPZ(4359), SLC12A3(6559), MPV17(4358), CHRNE(1145), LITAF(9516), SLC12A1(6557), CHRND(1144), ATP7B(540), RAI1(10743), SLC12A6(9990), NAGA(4668), GIF(2694), CHRNB1(1140), CPT2(1376), MANBA(4126), ATP7A(538), SAR1B(51128), LMNA(4000), RAPSN(5913), NDRG1(10397), POLG(5428), PRPS2(5634), FGF14(2259), MED25(81857), PSAP(5660), ATXN10(25814), HSPB8(26353), CYP27A1(1593), TREM2(54209), KCNJ1(3758), SOD1(6647), FUCA1(2517), PEX26(55670), NEB(4703), SMN1(6606), BSCL2(26580), GNAS(2778), SMCR(6600), CAV3(859), PABPN1(8106), TRPV4(59341), WNK1(65125), SNAP29(9342), PANK2(80025), IGHMBP2(3508), DOK7(285489), AGRN(375790), TYROBP(7305), AR(367), PMP22(5376), LDB3(11155), SLC25A15(10166), ARSA(410), AMN(81693), PEX2(5828), LARGE(9215), ERCC3(2071), NEFL(4747), CCT5(22948), PRPS1(5631), SPG7(6687), ERCC6(2074), KIAA0196(9897), FLNC(2318), PYGM(5837), GARS(2617), SPAST(6683), SOX10(6663), TTR(7276), ATXN3(4287), MTHFR(4524), HMBS(3145), FAM126A(84668), ALS2(57679), CUBN(8029), PMM2(5373), DNM2(1785), GALC(2581), PLEKHG5(57449), VPS13A(23230), SPG11(80208), MTMR2(8898), FGD4(121512), NF2(4771), SPTBN2(6712), PRX(57716), ARHGEF10(9639), PRKCG(5582), LAMP2(3920), CTDP1(9150), ZFYVE26(23503), EXT2(2132), SEPT9(10801), EXT1(2131), ERCC8(1161), HSPD1(3329), CYP7B1(9420), NGF(4803), MUSK(4593), EGR2(1959), DGUOK(1716), GSN(2934), GDAP1(54332), ABCD1(215), FXN(2395), ALAD(210), MFN2(9927), CLCF1(23529), PHKA1(5255), SERPING1(710), APTX(54840), ATP2A1(487), SPTLC1(10558)]
ABNORMALITY OF THE PERITONEUM(HP:0002585)	[MEFV(4210)]
ABNORMALITY OF THE PHALANGES OF THE 2ND FINGER(HP:0009541)	[MYCN(4613), GDF5(8200), BMPR1B(658)]
ABNORMALITY OF THE PHALANGES OF THE 3RD FINGER(HP:0009316)	[GDF5(8200)]
ABNORMALITY OF THE PHALANGES OF THE 5TH FINGER(HP:0004213)	[MYCN(4613), HOXD13(3239), GJA1(2697), GATA1(2623), CHST3(9469), GDF5(8200), TFAP2B(7021), ROR2(4920), H19(283120), PQBP1(10084), BMPR1B(658), DCR(1637)]
ABNORMALITY OF THE PHALANGES OF THE HALLUX(HP:0010057)	[TWIST1(7291), LMBR1(64327), FGFR2(2263), IHH(3549), HYLS1(219844), CANT1(124583), GLI3(2737)]
ABNORMALITY OF THE PHALANGES OF THE HAND(HP:0005918)	[MYCN(4613), FBN1(2200), FBN2(2201), NPR2(4882), BBS5(129880), ATR(545), MYH3(4621), SALL4(57167), CCBE1(147372), TGFBR1(7046), NSD1(64324), LMBR1(64327), H19(283120), DCR(1637), GLI3(2737), NOG(9241), ALX3(257), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), IHH(3549), FANCE(2178), GNPTAB(79158), BBS9(27241), SC5DL(6309), CANT1(124583), SALL1(6299), NOD2(64127), GPC3(2719), TMEM216(51259), UROS(7390), ROR2(4920), DDR2(4921), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CREBBP(1387), POR(5447), RAB23(51715), ADAMTS2(9509), MKKS(8195), COMP(1311), LMNA(4000), RAPSN(5913), COL17A1(1308), FGFR1(2260), EVC2(132884), FGFR3(2261), OCRL(4952), INPP5E(56623), GDF5(8200), FGFR2(2263), BBS12(166379), COL11A2(1302), COL11A1(1301), SLC26A2(1836), FGF10(2255), PHF6(84295), DSP(1832), KCNJ2(3759), HOXA13(3209), COL2A1(1280), COL3A1(1281), PQBP1(10084), TTC8(123016), ACVR1(90), GNAS(2778), TBX5(6910), BBS1(582), BBS2(583), TNNI2(7136), BBS4(585), PORCN(64840), TNNT3(7140), LIFR(3977), RUNX2(860), WNK1(65125), BBS10(79738), OFD1(8481), KDM5C(8242), IGHMBP2(3508), FAM123B(139285), HOXD13(3239), BBS7(55212), DOK7(285489), CTSC(1075), CHD7(55636), ABCD3(5825), EP300(2033), PEX2(5828), ARSE(415), TWIST1(7291), LARGE(9215), TRIM32(22954), TBX15(6913), RPS6KA3(6197), GATA1(2623), ARL6(84100), TBX3(6926), MGP(4256), ERCC6(2074), FLNA(2316), FLNB(2317), ITGB4(3691), SOX9(6662), LAMB3(3914), BMP4(652), LAMC2(3918), BLM(641), LAMA3(3909), LBR(3930), MKS1(54903), MIPOL1(145282), JAG1(182), CTSK(1513), BMPR1B(658), HSPG2(3339), TRPS1(7227), NHS(4810), WFS1(7466), CD96(10225), GGCX(2677), ERCC8(1161), CEP290(80184), ZMPSTE24(10269), CDH3(1001), MED12(9968), RMRP(6023), DHCR7(1717), L1CAM(3897), DYM(54808), FREM2(341640), WNT7A(7476), EVC(2121), ADAMTSL2(9719), FRAS1(80144), PCNT(5116), TP63(8626), FANCA(2175), WISP3(8838), HYLS1(219844), TFAP2B(7021), SEMA3E(9723), TFAP2A(7020), EIF2AK3(9451), MMP2(4313), TPM2(7169), CHST3(9469)]
ABNORMALITY OF THE PHALANGES OF THE THUMB(HP:0009602)	[EP300(2033), FGFR1(2260), SALL4(57167), NSD1(64324), FGFR3(2261), LMBR1(64327), GDF5(8200), FGFR2(2263), FLNA(2316), GLI3(2737), FLNB(2317), SLC26A2(1836), MED12(9968), NOG(9241), FGF10(2255), HOXA13(3209), FANCD2(2177), FANCC(2176), COL2A1(1280), IHH(3549), FANCE(2178), ACVR1(90), CANT1(124583), SALL1(6299), GPC3(2719), PCNT(5116), TBX5(6910), FANCA(2175), ROR2(4920), HOXD13(3239), CREBBP(1387)]
ABNORMALITY OF THE PHALANGES OF THE TOES(HP:0010161)	[NOG(9241), TWIST1(7291), GDF5(8200), LMBR1(64327), FGFR2(2263), IHH(3549), HYLS1(219844), WNT7A(7476), BMPR1B(658), CANT1(124583), GLI3(2737)]
ABNORMALITY OF THE PHARYNX(HP:0000600)	[ARSB(411), SH2D1A(4068), FGFR1(2260), SALL4(57167), ERCC4(2072), MGP(4256), NBN(4683), FGFR2(2263), EDA(1896), SGSH(6448), MED12(9968), MID1(4281), GNS(2799), AURKC(6795), WNT3(7473), BTK(695), MATR3(9782), GLB1(2720), TCOF1(6949), ANKH(56172), SHH(6469), HGSNAT(138050), DCLRE1C(64421), TP63(8626), GALNS(2588), SERPING1(710), HOXD13(3239), GJA1(2697), PNP(4860), PLG(5340), CASP8(841), NAGLU(4669)]
ABNORMALITY OF THE PHILTRUM(HP:0000288)	[AVP(551), CCBE1(147372), MYH3(4621), NSD1(64324), MGP(4256), HSD17B4(3295), ERCC6(2074), BRAF(673), GLI3(2737), MAP2K1(5604), MAP2K2(5605), NOG(9241), MID1(4281), BUB1B(701), CRLF1(9244), GNE(10020), GNPTAB(79158), SC5DL(6309), BCOR(54880), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), ABCC8(6833), RAB3GAP2(25782), AP3B1(8546), CHRNG(1146), KIAA1279(26128), ATP7A(538), KCNJ11(3767), TRPS1(7227), WHCR(7467), PDHA1(5160), WHSC1(7468), RAPSN(5913), FGFR1(2260), FGFR2(2263), COL11A1(1301), PAX3(5077), INS(3630), MED12(9968), DHCR7(1717), DGCR(1714), FGD1(2245), GPC6(10082), IGF1R(3480), PQBP1(10084), PITX2(5308), ADAMTSL2(9719), TBCE(6905), VPS13B(157680), GCK(2645), OPHN1(4983), TNNI2(7136), TBX1(6899), KRAS(3845), TNNT3(7140), TFAP2B(7021), NIPBL(25836), MMACHC(25974), OFD1(8481), KDM5C(8242), DOK7(285489), CUL7(9820), TPM2(7169), PVRL1(5818)]
ABNORMALITY OF THE PITUITARY GLAND(HP:0000838)	[BMP4(652), SHH(6469), GNAS(2778), INSR(3643), SIX3(6496), LHX4(89884), AIP(9049), CDKN1B(1027), GLI3(2737), PROP1(5626), SSTR5(6755), PRKAR1A(5573), GNRH1(2796), SOX3(6658), MEN1(4221), LHX3(8022), GH1(2688)]
ABNORMALITY OF THE PLEURA(HP:0002103)	[LBR(3930), MEFV(4210), CCBE1(147372), HFE(3077)]
ABNORMALITY OF THE PONS(HP:0007361)	[VRK1(7443)]
ABNORMALITY OF THE POSTERIOR CRANIAL FOSSA(HP:0000932)	[BUB1B(701), ZIC1(7545), ZIC4(84107), FGFR2(2263)]
ABNORMALITY OF THE POSTERIOR SEGMENT OF THE EYE(HP:0004329)	[FBN1(2200), FKRP(79147), RET(5979), EFEMP1(2202), MERTK(10461), AUH(549), TINF2(26277), ATRX(546), SACS(26278), CLN6(54982), HSD17B4(3295), TGFB1(7040), DNAJC19(131118), GLI3(2737), HSD11B2(3291), PRPH2(5961), NPHP1(4867), HESX1(8820), COQ2(27235), CDH23(64072), ABCA4(24), RDH5(5959), SPATA7(55812), BBS9(27241), GLB1(2720), OPN1LW(5956), RHO(6010), LYST(1130), TIMP3(7078), B3GALTL(145173), CHML(1122), CHM(1121), ACOX1(51), FKTN(2218), C20orf7(79133), GJA1(2697), NPHP4(261734), NDUFS7(374291), OPN1SW(611), MKKS(8195), FH(2271), CYP4V2(285440), FGFR2(2263), BCS1L(617), BBS12(166379), FGF23(8074), COL18A1(80781), AAAS(8086), GPR143(4935), CECR(1055), GPR98(84059), OAT(4942), DTNBP1(84062), C8orf38(137682), OPA1(4976), RBP4(5950), TNFRSF11B(4982), BBS1(582), BBS2(583), BBS4(585), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), NIPBL(25836), BBS10(79738), CCND1(595), SNAP29(9342), FASTKD2(22868), RB1(5925), CRB1(23418), SMPD1(6609), ERBB3(2065), BTD(686), RPGR(6103), RP2(6102), ERCC3(2071), TRIM32(22954), RP1(6101), RP9(6100), ARL6(84100), PRPS1(5631), ERCC6(2074), BRAF(673), MAP2K1(5604), MAP2K2(5605), SH3BP2(6452), BLOC1S3(388552), TREX1(11277), KL(9365), TCIRG1(10312), GALC(2581), PRPF31(26121), MFSD8(256471), BCOR(54880), DKC1(1736), GALNT3(2591), DLD(1738), CNGB1(1258), MKS1(54903), AGXT(189), RECQL4(9401), RPE65(6121), RPIA(22934), PDHX(8050), OPA3(80207), JAG1(182), RAB3GAP1(22930), HPS6(79803), POMT2(29954), ZFYVE26(23503), WFS1(7466), PAX6(5080), ERCC8(1161), ST3GAL5(8869), FZD4(8322), CEP290(80184), PAX3(5077), PAX2(5076), EIF2B2(8892), MED12(9968), CA4(762), EIF2B5(8893), PPT1(5538), CA2(760), TRIM37(4591), EIF2B4(8890), WRN(7486), AHI1(54806), EIF2B3(8891), RLBP1(6017), HEXA(3073), TEAD1(7003), PCDH15(65217), COQ9(57017), IMPDH1(3614), BEST1(7439), MFN2(9927), PROM1(8842), SOST(50964), TIMM8A(1678), TFAP2A(7020), OPN1MW(2652), ALDH3A2(224), VHL(7428), CLN5(1203), TPP1(1200), CLN3(1201), APTX(54840), MTTP(4547), CABC1(56997), PGK1(5230), CLDN19(149461), BBS5(129880), SALL4(57167), HPS5(11234), GJC2(57165), EDNRB(1910), ATXN7(6314), IKBKG(8517), USH2A(7399), CP(1356), GUCY2D(3000), COX15(1355), USH1G(124590), ATXN1(6310), ELOVL4(6785), ATXN2(6311), CLRN1(7401), UQCRB(7381), MYO7A(4647), SALL1(6299), CRX(1406), TMEM216(51259), PTGS1(5742), PEX10(5192), KIF1B(23095), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), NUP62(23636), MCOLN1(57192), SURF1(6834), NR2E3(10002), C10orf2(56652), AP3B1(8546), CREBBP(1387), CNNM4(26504), NAGA(4668), RAB23(51715), CACNA1F(778), MAN2B1(4125), APOB(338), HCCS(3052), C1QTNF5(114902), CNGB3(54714), SDHD(6392), KRIT1(889), SDHB(6390), INPP5E(56623), SDHA(6389), PDE6B(5158), COL11A1(1301), PDSS2(57107), APC(324), NDP(4693), NDUFA1(4694), NDUFA2(4695), COL4A1(1282), USH1C(10083), PDSS1(23590), COL2A1(1280), PEX26(55670), TTC8(123016), POMGNT1(55624), VPS13B(157680), ABCC6(368), COX6B1(1340), HPS3(84343), PORCN(64840), PEX3(8504), NDUFS1(4719), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), HADHB(3032), PANK2(80025), TYR(7299), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), NDUFS8(4728), HADHA(3030), CHD7(55636), HSD17B10(3028), SLC25A15(10166), PEX19(5824), ARSA(410), ABCD3(5825), PLOD1(5351), EP300(2033), PEX2(5828), LARGE(9215), PEX5(5830), TULP1(7287), SPG7(6687), PLP1(5354), NDUFAF2(91942), FLNB(2317), CTNS(1497), IDS(3423), TTR(7276), SOX2(6657), MITF(4286), UQCRQ(27089), PMM2(5373), POMT1(10585), ASPA(443), PRPF8(10594), NDUFAF3(25915), IQCB1(9657), TSC1(7248), TSC2(7249), NF2(4771), L2HGDH(79944), CTSD(1509), ARX(170302), TNFSF11(8600), ATIC(471), CDH3(1001), RS1(6247), PRPF3(9129), GSS(2937), EIF2B1(1967), ALG3(10195), VCAN(1462), KRAS(3845), SEMA3E(9723), MMACHC(25974), PHYH(5264), HPS4(89781), NOTCH3(4854)]
ABNORMALITY OF THE PROSTATE(HP:0008775)	[PHF6(84295), BTK(695)]
ABNORMALITY OF THE PROXIMAL PHALANGES OF THE HAND(HP:0009834)	[TRPS1(7227), NOG(9241), PCNT(5116), HOXA13(3209), SALL4(57167), COL2A1(1280), GDF5(8200), IHH(3549), BMPR1B(658), FLNB(2317), CANT1(124583), ACVR1(90)]
ABNORMALITY OF THE PROXIMAL PHALANGES OF THE TOES(HP:0010184)	[TWIST1(7291), FGFR2(2263), CANT1(124583)]
ABNORMALITY OF THE PROXIMAL PHALANX OF THE 2ND FINGER(HP:0009544)	[GDF5(8200)]
ABNORMALITY OF THE PROXIMAL PHALANX OF THE 3RD FINGER(HP:0009358)	[GDF5(8200)]
ABNORMALITY OF THE PROXIMAL PHALANX OF THE HALLUX(HP:0010052)	[IHH(3549)]
ABNORMALITY OF THE PROXIMAL PHALANX OF THE THUMB(HP:0009618)	[FGF10(2255), FGFR3(2261), IHH(3549)]
ABNORMALITY OF THE PROXIMAL TIBIAL EPIPHYSIS(HP:0010591)	[COL11A1(1301)]
ABNORMALITY OF THE PUBIC BONES(HP:0003172)	[FRAS1(80144), MATN3(4148), TBX15(6913), DYM(54808), COL2A1(1280), FREM2(341640), WNT7A(7476), RUNX2(860)]
ABNORMALITY OF THE PULMONARY ARTERY(HP:0004414)	[FBN1(2200), SLC37A4(2542), ELN(2006), SLC2A10(81031), CRTAP(10491), ZEB2(9839), FOXF1(2294), TGFBR1(7046), MGP(4256), STRA6(64220), FLNA(2316), LIFR(3977), LIPA(3988), GJA1(2697), GBA(2629), SLC17A3(10786), CRELD1(78987), GPC6(10082), ACVRL1(94), COL1A1(1277), JAG1(182), SMAD9(4093), BMPR2(659)]
ABNORMALITY OF THE PULMONARY VALVE(HP:0001641)	[FBN1(2200), GPC3(2719), ZEB2(9839), TGFBR1(7046), KRAS(3845), B3GALTL(145173), STRA6(64220), BRAF(673), PTPN11(5781), MAP2K1(5604), MAP2K2(5605), PRKAR1A(5573), SOS1(6654), HRAS(3265), ZIC3(7547), RAB23(51715)]
ABNORMALITY OF THE PULMONARY VASCULATURE(HP:0004930)	[FBN1(2200), ZEB2(9839), TGFBR1(7046), MGP(4256), STRA6(64220), FLNA(2316), DHCR24(1718), SLC17A3(10786), CECR(1055), GPC6(10082), WNT3(7473), ACVRL1(94), SMAD9(4093), SLC37A4(2542), SLC2A10(81031), ELN(2006), CRTAP(10491), FOXF1(2294), LIFR(3977), LIPA(3988), GJA1(2697), GBA(2629), CRELD1(78987), COL1A1(1277), JAG1(182), BMPR2(659)]
ABNORMALITY OF THE PUPILS(HP:0000615)	[SH3TC2(79628), PHYH(5264), TINF2(26277), DDC(1644), NME1(4830), RB1(5925), PEX7(5191), SIX6(4990)]
ABNORMALITY OF THE PYLORUS(HP:0004400)	[LAMB3(3914), LAMC2(3918), TBX3(6926), FGFR2(2263), NIPBL(25836), TFAP2A(7020), LAMA3(3909), MTM1(4534), MED12(9968), ITGB4(3691), DHCR7(1717), NPHS1(4868), ITGA6(3655)]
ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062)	[SLC25A15(10166), ARSA(410), PLA2G6(8398), ATL1(51062), LARGE(9215), DDC(1644), ATXN8(724066), SACS(26278), CCT5(22948), SETX(23064), GAN(8139), MAPT(4137), GJC2(57165), SPG7(6687), KIAA0196(9897), PLP1(5354), NDUFAF2(91942), SLC16A2(6567), SPAST(6683), ATXN7(6314), ATXN8OS(6315), ATXN3(4287), ABCB7(22), FAM126A(84668), TREX1(11277), ALS2(57679), ATXN1(6310), NIPA1(123606), NDUFAF3(25915), SPG11(80208), KIF5A(3798), MCOLN1(57192), L2HGDH(79944), SPTBN2(6712), ACOX1(51), FKTN(2218), C20orf7(79133), OPA3(80207), MAN2B1(4125), GAD1(2571), CTDP1(9150), ZFYVE26(23503), FBXO7(25793), LMNB1(4001), GPR56(9289), SDHA(6389), MECP2(4204), HSPD1(3329), CYP7B1(9420), PSAP(5660), AAAS(8086), SPG20(23111), KCNC3(3748), PSEN1(5663), ATXN10(25814), L1CAM(3897), SLC2A1(6513), NDUFA1(4694), TREM2(54209), COL4A1(1282), HEXB(3074), SOD1(6647), FXN(2395), BSCL2(26580), CHMP2B(25978), MFN2(9927), NDUFA11(126328), NDUFAF4(29078), KCNA1(3736), NDUFS1(4719), ATP13A2(23400), NDUFV1(4723), NDUFS2(4720), KDM5C(8242), PANK2(80025), NDUFS6(4726), NDUFS4(4724), TYROBP(7305), SDHAF1(644096)]
ABNORMALITY OF THE RADIAL HEAD(HP:0003995)	[FBN1(2200), NOG(9241), CD96(10225), CHRNG(1146), TBX15(6913), ATR(545), GPC6(10082), NIPBL(25836), FLNA(2316), GLI3(2737), LMX1B(4010)]
ABNORMALITY OF THE RADIOULNAR JOINTS(HP:0003059)	[CANT1(124583)]
ABNORMALITY OF THE RADIUS(HP:0002818)	[FBN1(2200), EXT2(2132), WHCR(7467), CD96(10225), NPR2(4882), WHSC1(7468), TWIST1(7291), TBX15(6913), EXT1(2131), ATR(545), FGFR1(2260), SALL4(57167), FGFR3(2261), TBX3(6926), LMBR1(64327), GDF5(8200), FGFR2(2263), MMP13(4322), FLNA(2316), B4GALT7(11285), GLI3(2737), LMX1B(4010), FLNB(2317), ESCO2(157570), NOG(9241), FGF10(2255), HOXA11(3207), CECR(1055), FANCD2(2177), GPC6(10082), FANCC(2176), IHH(3549), FANCE(2178), WNT7A(7476), TRIP11(9321), TBX5(6910), FANCA(2175), NIPBL(25836), SHOX(6473), MIPOL1(145282), HOXD13(3239), CHRNG(1146), POR(5447), RECQL4(9401), LEPRE1(64175)]
ABNORMALITY OF THE RECTUM(HP:0002034)	[MKKS(8195), SALL1(6299), RPS6KA3(6197), SALL4(57167), CCBE1(147372), DKC1(1736), PTEN(5728), CYBA(1535), CYBB(1536), NCF2(4688), ITGB2(3689), CFTR(1080), NCF1(653361), STK11(6794), VANGL1(81839), SMAD4(4089), RECQL4(9401), MNX1(3110), UBR1(197131), BMPR1A(657)]
ABNORMALITY OF THE RENAL ARTERY(HP:0008776)	[RET(5979), KIF1B(23095), NF1(4763), SDHD(6392), SDHB(6390), VHL(7428)]
ABNORMALITY OF THE RENAL COLLECTING SYSTEM(HP:0004742)	[EYA1(2138)]
ABNORMALITY OF THE RENAL TUBULES(HP:0000091)	[PLCE1(51196), AMN(81693), RET(5979), LYZ(4069), HPS5(11234), SCARB2(950), ERCC6(2074), CTNS(1497), NPHS1(4868), BLOC1S3(388552), NPHP1(4867), HNF1B(6928), MYH9(4627), CUBN(8029), PMM2(5373), NEU1(4758), FN1(2335), GLA(2717), UPK3A(7380), LAMB2(3913), KIF1B(23095), PKHD1(5314), LRP2(4036), ETFDH(2110), ETFB(2109), ETFA(2108), LCAT(3931), INVS(27130), ADAMTS13(11093), ATP7B(540), HPS6(79803), NPHP4(261734), NPHS2(7827), SDHD(6392), ERCC8(1161), SDHB(6390), OCRL(4952), LMX1B(4010), PAX2(5076), MUT(4594), COL4A6(1288), MEFV(4210), BSND(7809), SLC17A3(10786), APOA1(335), NPHP3(27031), CFH(3075), COL4A5(1287), FGA(2243), DTNBP1(84062), SMARCAL1(50485), LMNB2(84823), CLCN5(1184), SLC37A4(2542), COX6B1(1340), C3(718), HPS3(84343), CLCNKB(1188), G6PC(2538), HPS1(3257), NIPBL(25836), MMACHC(25974), VHL(7428), FASTKD2(22868), HPS4(89781)]
ABNORMALITY OF THE RENIN-ALDOSTERONE AXIS(HP:0003350)	[SCNN1G(6340), SCNN1B(6338), CYP11B2(1585), CYP11B1(1584)]
ABNORMALITY OF THE RETINA(HP:0000479)	[FBN1(2200), FKRP(79147), RET(5979), EFEMP1(2202), MERTK(10461), TINF2(26277), SACS(26278), CLN6(54982), HSD17B4(3295), HSD11B2(3291), PRPH2(5961), NPHP1(4867), CDH23(64072), COQ2(27235), ABCA4(24), RDH5(5959), SPATA7(55812), BBS9(27241), OPN1LW(5956), RHO(6010), LYST(1130), TIMP3(7078), B3GALTL(145173), ACOX1(51), FKTN(2218), NPHP4(261734), NDUFS7(374291), MKKS(8195), OPN1SW(611), CYP4V2(285440), BCS1L(617), BBS12(166379), FGF23(8074), COL18A1(80781), GPR98(84059), OAT(4942), C8orf38(137682), RBP4(5950), BBS1(582), TNFRSF11B(4982), BBS2(583), BBS4(585), BBS10(79738), CCND1(595), FASTKD2(22868), RB1(5925), CRB1(23418), SMPD1(6609), RPGR(6103), RP2(6102), TRIM32(22954), RP1(6101), ERCC3(2071), RP9(6100), ARL6(84100), ERCC6(2074), TREX1(11277), KL(9365), PRPF31(26121), MFSD8(256471), GALNT3(2591), DLD(1738), CNGB1(1258), MKS1(54903), RPE65(6121), JAG1(182), POMT2(29954), ZFYVE26(23503), PAX6(5080), WFS1(7466), ERCC8(1161), FZD4(8322), CEP290(80184), PAX2(5076), CA4(762), PPT1(5538), TRIM37(4591), AHI1(54806), WRN(7486), RLBP1(6017), HEXA(3073), TEAD1(7003), PCDH15(65217), COQ9(57017), IMPDH1(3614), BEST1(7439), PROM1(8842), TIMM8A(1678), OPN1MW(2652), TFAP2A(7020), VHL(7428), ALDH3A2(224), CLN5(1203), TPP1(1200), CLN3(1201), APTX(54840), MTTP(4547), CABC1(56997), CLDN19(149461), PGK1(5230), BBS5(129880), SALL4(57167), EDNRB(1910), ATXN7(6314), USH2A(7399), IKBKG(8517), CP(1356), GUCY2D(3000), COX15(1355), USH1G(124590), ELOVL4(6785), ATXN2(6311), CLRN1(7401), MYO7A(4647), UQCRB(7381), SALL1(6299), CRX(1406), TMEM216(51259), PTGS1(5742), KIF1B(23095), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), LRP5(4041), PEX7(5191), PTEN(5728), MCOLN1(57192), SURF1(6834), NR2E3(10002), CREBBP(1387), CNNM4(26504), CACNA1F(778), MAN2B1(4125), APOB(338), HCCS(3052), C1QTNF5(114902), SDHD(6392), CNGB3(54714), KRIT1(889), SDHB(6390), INPP5E(56623), SDHA(6389), PDE6B(5158), COL11A1(1301), PDSS2(57107), APC(324), NDP(4693), NDUFA2(4695), COL4A1(1282), PDSS1(23590), USH1C(10083), COL2A1(1280), TTC8(123016), PEX26(55670), POMGNT1(55624), VPS13B(157680), COX6B1(1340), ABCC6(368), PORCN(64840), PEX3(8504), NDUFS3(4722), NDUFV1(4723), HADHB(3032), PANK2(80025), TYR(7299), BBS7(55212), ALMS1(7840), NDUFS4(4724), NDUFS8(4728), HADHA(3030), HSD17B10(3028), CHD7(55636), PEX19(5824), SLC25A15(10166), EP300(2033), PLOD1(5351), PEX2(5828), LARGE(9215), PEX5(5830), TULP1(7287), CTNS(1497), FLNB(2317), IDS(3423), MITF(4286), UQCRQ(27089), PMM2(5373), POMT1(10585), PRPF8(10594), IQCB1(9657), TSC1(7248), TSC2(7249), NF2(4771), CTSD(1509), CDH3(1001), RS1(6247), PRPF3(9129), GSS(2937), ALG3(10195), VCAN(1462), MMACHC(25974), SEMA3E(9723), PHYH(5264), NOTCH3(4854)]
ABNORMALITY OF THE RETINAL PIGMENT EPITHELIUM(HP:0008051)	[SLC25A15(10166), RHO(6010), RBP4(5950), IMPDH1(3614), BEST1(7439), RP1(6101), VCAN(1462), RP9(6100), TSC1(7248), TSC2(7249), NR2E3(10002), FLNB(2317), EDNRB(1910), IDS(3423), ATXN7(6314), PRPH2(5961), APC(324), TRIM37(4591), COL4A1(1282), GSS(2937), JAG1(182)]
ABNORMALITY OF THE RETINAL VASCULATURE(HP:0008046)	[IKBKG(8517), BEST1(7439), PTGS1(5742), ABCC6(368), PRPF3(9129), TREX1(11277), KRIT1(889), COL4A1(1282), FZD4(8322), LRP5(4041)]
ABNORMALITY OF THE RIBS(HP:0000772)	[FBN1(2200), ARSB(411), ATR(545), NSD1(64324), MGP(4256), VDR(7421), FLNA(2316), GLI3(2737), CTNS(1497), FLNB(2317), SGSH(6448), IKBKG(8517), NOG(9241), SOX9(6662), SOX2(6657), MATN3(4148), ADAMTS10(81794), PTCH1(5727), SLC35D1(23169), NSDHL(50814), IHH(3549), GLB1(2720), CHRNA1(1134), GPC3(2719), DYNC2H1(79659), CRTAP(10491), GALNS(2588), ROR2(4920), DDR2(4921), LBR(3930), GJA1(2697), CHRNG(1146), CHRND(1144), RECQL4(9401), COL1A1(1277), PTH1R(5745), NAGLU(4669), JAG1(182), MAN2B1(4125), EXT2(2132), WHCR(7467), WHSC1(7468), EXT1(2131), RAPSN(5913), FGFR3(2261), EVC2(132884), MMP13(4322), PAX3(5077), CYP2R1(120227), LMX1B(4010), SLC26A2(1836), PTPN11(5781), RMRP(6023), GNS(2799), CYP27B1(1594), SBDS(51119), DYM(54808), COL2A1(1280), WNT7A(7476), EVC(2121), GDF6(392255), TBCE(6905), HGSNAT(138050), TRIP11(9321), SOST(50964), PORCN(64840), SEMA3E(9723), NIPBL(25836), LIFR(3977), RUNX2(860), DLL3(10683), FAM123B(139285), HOXD13(3239), DOK7(285489), SLC34A3(142680), ALPL(249), CUL7(9820), CHD7(55636), LEPRE1(64175)]
ABNORMALITY OF THE SACRUM(HP:0005107)	[WHCR(7467), CD96(10225), WHSC1(7468), TBX15(6913), ROR2(4920), FLNB(2317), TRPV4(59341), MED12(9968), SLC26A2(1836), LBR(3930), VANGL1(81839), FUCA1(2517), MNX1(3110)]
ABNORMALITY OF THE SALIVARY GLANDS(HP:0010286)	[TCOF1(6949), FGF10(2255), TP63(8626), FGFR3(2261)]
ABNORMALITY OF THE SCALP(HP:0001965)	[TFAP2A(7020)]
ABNORMALITY OF THE SCAPULAE(HP:0000782)	[VCP(7415), TRPS1(7227), EXT2(2132), TBX15(6913), EXT1(2131), FGFR1(2260), TBX3(6926), FGFR3(2261), SGCB(6443), CAPN3(825), FLNA(2316), PAX3(5077), LMX1B(4010), EYA1(2138), PTPN11(5781), SOX9(6662), MYH7(4625), PTCH1(5727), KCNJ2(3759), DYM(54808), NSDHL(50814), SLC35D1(23169), GNPTAB(79158), GDF6(392255), TRIP11(9321), SOST(50964), EFNB1(1947), RUNX2(860), LBR(3930), ATP6V0A2(23545), ACTB(60)]
ABNORMALITY OF THE SCHWANN CELLS(HP:0100008)	[NF2(4771)]
ABNORMALITY OF THE SCLERA(HP:0000591)	[PLOD1(5351), ABCC6(368), CRTAP(10491), TGFBR1(7046), PTEN(5728), MVK(4598), H19(283120), COL5A2(1290), ESCO2(157570), HGD(3081), COL5A1(1289), GJA1(2697), ALPL(249), COL1A2(1278), ZNF469(84627), PPIB(5479), COL1A1(1277), KIAA1279(26128), ADAMTS2(9509), GHR(2690)]
ABNORMALITY OF THE SCROTUM(HP:0000045)	[BMP4(652), EP300(2033), SNRPN(6638), SALL1(6299), ATRX(546), OPHN1(4983), ZEB2(9839), IRF6(3664), TBX3(6926), SRD5A2(6716), FGFR2(2263), EFNB1(1947), BUB1B(701), DHCR7(1717), NDN(4692), CREBBP(1387), POR(5447), HOXA13(3209), FGD1(2245), AR(367), WNT7A(7476)]
ABNORMALITY OF THE SELLA TURCICA(HP:0002679)	[ADAMTSL2(9719), RMRP(6023), GUSB(2990), TRIM37(4591), SLC17A5(26503), PTCH1(5727), DYM(54808), GNPTAB(79158)]
ABNORMALITY OF THE SENSE OF SMELL(HP:0004408)	[SHH(6469), UCHL1(7345), SCN9A(6335), MFN2(9927), ARSE(415), DNAI1(27019), KAL1(3730), TBP(6908), FGFR1(2260), PEX7(5191), MAPT(4137), PTPN11(5781), PHYH(5264), PROKR2(128674), DBH(1621)]
ABNORMALITY OF THE SEPTUM PELLUCIDUM(HP:0007375)	[WHCR(7467), L1CAM(3897), WHSC1(7468), DOK7(285489), HCCS(3052), HESX1(8820), RAPSN(5913), NSD1(64324), FGFR2(2263), HYLS1(219844)]
ABNORMALITY OF THE SHOULDER(HP:0003043)	[VCP(7415), TRPS1(7227), FKRP(79147), MYOT(9499), LMNA(4000), TRIM32(22954), SALL4(57167), MYH3(4621), SGCB(6443), CAPN3(825), FLNA(2316), PAX3(5077), EYA1(2138), LMX1B(4010), PTPN11(5781), ALX3(257), MYH7(4625), PTCH1(5727), KCNJ2(3759), MATR3(9782), ANO5(203859), TBX5(6910), SEMA3E(9723), TRPV4(59341), ATP6V0A2(23545), RECQL4(9401), CHD7(55636)]
ABNORMALITY OF THE SHOULDER GIRDLE MUSCULATURE(HP:0001435)	[VCP(7415), FKRP(79147), TRPS1(7227), MYOT(9499), TBX5(6910), LMNA(4000), TRIM32(22954), SALL4(57167), SGCB(6443), CAPN3(825), PAX3(5077), FLNA(2316), EYA1(2138), PTPN11(5781), ALX3(257), ATP6V0A2(23545), MYH7(4625), KCNJ2(3759), MATR3(9782), ANO5(203859)]
ABNORMALITY OF THE SINUSES(HP:0000245)	[ADA(100), AGA(175), ATRX(546), ATM(472), DNAI1(27019), TNFRSF13B(23495), NBN(4683), IL2RG(3561), COL11A1(1301), FLNA(2316), RUNX2(860), ALX3(257), TRIM37(4591), WAS(7454), PNP(4860), KCNJ2(3759), BTK(695), FUCA1(2517), ICOS(29851), CTSK(1513), DNMT3B(1789)]
ABNORMALITY OF THE SKIN(HP:0000951)	[FBN1(2200), SUCLG1(8802), TINF2(26277), VPS33B(26276), SPINK5(11005), PPOX(5498), CCBE1(147372), MCCC2(64087), H19(283120), DPM1(8813), EDARADD(128178), HRAS(3265), SNAI2(6591), FANCD2(2177), DOLK(22845), CTSA(5476), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), FECH(2235), PPARG(5468), NOD2(64127), LYST(1130), SLC5A5(6528), B3GALTL(145173), SART3(9733), MPL(4352), CHRNG(1146), MPV17(4358), CHRND(1144), TNFRSF10B(8795), PUS1(80324), WNT10A(80326), SNRPN(6638), FH(2271), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CDKN2A(1029), POLH(5429), FGF10(2255), SOS1(6654), HOXA11(3207), CECR(1055), FGD1(2245), ACVRL1(94), EDAR(10913), FGA(2243), ACVR1(90), C8orf38(137682), FOXC2(2303), CNBP(7555), ADAR(103), MSH2(4436), HPGD(3248), CETP(1071), PMS2(5395), HPS1(3257), ALOXE3(59344), WNK1(65125), CTSC(1075), SMPD1(6609), PRNP(5621), ABCA12(26154), ERCC2(2068), TRIM32(22954), ERCC3(2071), ERCC5(2073), ERCC4(2072), ERCC6(2074), PROC(5624), PROS1(5627), MAP2K1(5604), SGSH(6448), MAP2K2(5605), BLOC1S3(388552), SH3BP2(6452), ABCC2(1244), HLCS(3141), AGA(175), SOX18(54345), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), PRKAR1A(5573), NR0B1(190), AGXT(189), COL1A2(1278), WNT4(54361), XPC(7508), ZNF469(84627), COL1A1(1277), PRKCA(5578), XPA(7507), MSX1(4487), GJB6(10804), WHCR(7467), HK1(3098), WHSC1(7468), ERCC8(1161), CEP290(80184), MVK(4598), MUTYH(4595), EYA1(2138), MED12(9968), HGD(3081), TRIM37(4591), ALDH1A1(216), ALDH2(217), NCF1(653361), WRN(7486), SLC17A3(10786), SLC2A2(6514), HEXB(3074), ABCD1(215), SLC4A1(6521), HFE(3077), NOP10(55505), SMARCAL1(50485), F11(2160), FANCA(2175), WISP3(8838), ALDOB(229), ALDOA(226), ALDH3A2(224), VHL(7428), PPP1R3A(5506), VWF(7450), WAS(7454), GORAB(92344), ALPL(249), F9(2158), CARD9(64170), F8(2157), ALOX12B(242), CPOX(1371), SCN9A(6335), CPN1(1369), CLDN1(9076), NSD1(64324), ANCR(282), HPS5(11234), VDR(7421), SCN2A(6326), ANK1(286), SLC6A19(340024), FERMT1(55612), ESCO2(157570), SLC7A7(9056), ABCB4(5244), ALX3(257), COX15(1355), GNE(10020), MC2R(4158), SALL1(6299), SLC2A10(81031), PEX10(5192), PEX14(5195), SAT1(6303), PEX13(5194), PEX1(5189), UROD(7389), AIP(9049), PSTPIP1(9051), PEX7(5191), UROS(7390), PEPD(5184), C10orf2(56652), PFKM(5213), SLC17A5(26503), CREBBP(1387), ATP8B1(5205), MAN2B1(4125), MANBA(4126), APOB(338), APOA2(336), COL17A1(1308), SDHD(6392), SDHC(6391), SDHB(6390), NHP2(55651), SDHA(6389), APOE(348), MECP2(4204), AMACR(23600), PDGFRA(5156), AIRE(326), COL5A2(1290), COL6A1(1291), APC(324), COL5A1(1289), COL7A1(1294), MEFV(4210), COL6A2(1292), COL6A3(1293), LEMD3(23592), COL4A1(1282), GPC6(10082), APOA1(335), FUCA1(2517), UBE3A(7337), MEN1(4221), COL3A1(1281), COL4A5(1287), TTC8(123016), PEX26(55670), BSCL2(26580), LMNB2(84823), SLC37A4(2542), VPS13B(157680), SLC39A4(55630), ABCC6(368), G6PD(2539), GLMN(11146), G6PC(2538), TMC8(147138), PANK2(80025), TYR(7299), IGHMBP2(3508), CDAN1(146059), FAS(355), TYROBP(7305), TYRP1(7306), UGT1A1(54658), CHD7(55636), PLOD1(5351), ARSE(415), STS(412), RPS6KA3(6197), SERPINF2(5345), FLG(2312), CTNNB1(1499), FLNA(2316), PLOD2(5352), FLNB(2317), CTNS(1497), IDS(3423), TTR(7276), MITF(4286), TTPA(7274), FLT4(2324), PMM2(5373), OSMR(9180), PKLR(5313), TSHR(7253), CYBA(1535), TSC1(7248), CYB5A(1528), TSC2(7249), CFI(3426), ASAH1(427), KITLG(4254), MBTPS2(51360), PLG(5340), CTSK(1513), POMP(51371), PLEC(5339), MGAT2(4247), HSPG2(3339), TRPS1(7227), CD96(10225), BCMO1(53630), ATM(472), PIK3CA(5290), ATIC(471), LMBRD1(55788), PRKAG2(51422), TRH(7200), HR(55806), HYAL1(3373), DCLRE1C(64421), MLH1(4292), PHYH(5264), PI3(5266), ANTXR2(118429), MMP2(4313), ATP2A2(488), HPS4(89781), TPM2(7169), RPS19(6223), MASTL(84930), PLCE1(51196), DDB1(1642), DDB2(1643), RET(5979), NPR2(4882), TGM1(7051), ATR(545), TGFBR1(7046), TGFB1(7040), GLI3(2737), DCR(1637), NOG(9241), NPHS1(4868), THPO(7066), NPC1(4864), CRLF1(9244), GLB1(2720), GLA(2717), GPC3(2719), NTRK1(4914), MRPS22(56945), SEC23A(10484), ROR2(4920), RHAG(6005), GJB2(2706), GJB3(2707), GTF2H5(404672), GJA1(2697), FST(10468), KDR(3791), ATP7A(538), NDUFS7(374291), GP1BA(2811), MKKS(8195), GP9(2815), GP1BB(2812), OCA2(4948), OCRL(4952), GDF5(8200), BCS1L(617), FGF23(8074), AAAS(8086), GPR143(4935), GNS(2799), RAG2(5897), CYP27A1(1593), RAG1(5896), TNFRSF1A(7132), DTNBP1(84062), CYP11B1(1584), ABHD5(51099), GNAS(2778), RBP4(5950), TNXB(7148), JUP(3728), TRIP11(9321), BBS1(582), BBS2(583), CYLD(1540), BBS4(585), CYBB(1536), NIPBL(25836), JAK2(3717), BBS10(79738), CCND1(595), SNAP29(9342), TPI1(7167), TGM5(9333), BTD(686), TBXAS1(6916), EFEMP2(30008), ARL6(84100), GATA1(2623), TBX3(6926), BRAF(673), B4GALT7(11285), ITGB3(3690), ITGB4(3691), ALS2(57679), TREX1(11277), KL(9365), BTK(695), TCOF1(6949), PAH(5053), BMP4(652), GALE(2582), ITGA2B(3674), TMC6(11322), DKC1(1736), IRF6(3664), GALNT3(2591), DLD(1738), BLM(641), GALK1(2584), BPGM(669), MKS1(54903), DOCK8(81704), RECQL4(9401), MRPS16(51021), ETHE1(23474), HPS6(79803), ITGA6(3655), INSR(3643), EHMT1(79813), FLCN(201163), GGCX(2677), PAX3(5077), ZMPSTE24(10269), DGUOK(1716), DHCR7(1717), DGCR(1714), SAMD9(54809), CYB5R3(1727), EPM2A(7957), ING1(3621), C1R(715), HGSNAT(138050), C2(717), CLCF1(23529), PCNT(5116), TERC(7012), TERT(7015), C3(718), ROBLD3(28956), TFAP2A(7020), PCCB(5096), ATP6V0A2(23545), GBA(2629), GJB4(127534), C4A(720), CHST3(9469), PCCA(5095), C5(727), TGFA(7039), P2RY12(64805), GUSB(2990), LYZ(4069), BBS5(129880), SLURP1(57152), MYH3(4621), SETX(23064), EDNRB(1910), EDA(1896), IKBKG(8517), FOXP3(50943), IKBKAP(8518), PDE11A(50940), CDKL5(6792), STK11(6794), PTCH1(5727), MYH9(4627), AURKC(6795), RAB7A(7879), SMAD4(4089), ECM1(1893), MSH6(2956), MYO5A(4644), PTGS1(5742), KIF1B(23095), LRP2(4036), PTEN(5728), SURF1(6834), AP3B1(8546), NAGA(4668), PTH1R(5745), NAGLU(4669), SUOX(6821), ADAMTS2(9509), PRSS1(5644), HBG2(3048), LMNB1(4001), HCCS(3052), LMNA(4000), NPHS2(7827), KRIT1(889), LOX(4015), HBB(3043), NBN(4683), LOR(4014), NHLRC1(378884), LMX1B(4010), SLC26A2(1836), NCF2(4688), CUL4B(8450), LPL(4023), NDN(4692), DSP(1832), NDUFA2(4695), TREM2(54209), DSG1(1828), TMPRSS15(5651), ALX4(60529), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), RUNX1(861), LIFR(3977), EBP(10682), NDUFS3(4722), NDUFV1(4723), LIPA(3988), OFD1(8481), BBS7(55212), HBA1(3039), ALMS1(7840), NDUFS4(4724), DPAGT1(1798), CASP10(843), CXCR4(7852), NDUFS8(4728), CASP8(841), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), SLC19A2(10560), LDLR(3949), PEX5(5830), STOM(2040), SOX10(6663), SOX9(6662), NPC2(10577), NF1(4763), ENG(2022), NSDHL(50814), ABCB11(8647), SPTB(6710), LAMB3(3914), SPTA1(6708), LAMB1(3912), LAMB2(3913), GPI(2821), ELN(2006), LAMC2(3918), AKR1D1(6718), NF2(4771), LAMA3(3909), LBR(3930), RAB27A(5873), MLC1(23209), MRAP(56246), KRT81(3887), CDK4(1019), NGF(4803), KRT17(3872), CDH3(1001), PTPN11(5781), ATP2C1(27032), FBLN5(10516), NME1(4830), GSN(2934), KRT86(3892), KRT83(3889), KRT85(3891), KRT6B(3854), ADAMTSL2(9719), ST14(6768), KRT5(3852), KRT6A(3853), STAT3(6774), KRT4(3851), KRT1(3848), KRT2(3849), NLRP3(114548), TP63(8626), KRAS(3845), SEMA3E(9723), EFNB1(1947), SUMF1(285362), KRT16(3868), AGPAT2(10555), KRT14(3861), KRT13(3860), PVRL1(5818), SPTLC1(10558), NOTCH3(4854), KRT10(3858), KRT9(3857)]
ABNORMALITY OF THE SKULL(HP:0000929)	[FBN1(2200), FBN2(2201), FKRP(79147), CCBE1(147372), HSD17B4(3295), H19(283120), DPM1(8813), EDARADD(128178), SLC16A2(6567), SLC35C1(55343), KCNQ1OT1(10984), HRAS(3265), FANCD2(2177), FANCC(2176), DOLK(22845), PPIB(5479), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), ACADSB(36), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), C20orf7(79133), CHRNG(1146), MPV17(4358), CHRNE(1145), CHRND(1144), POR(5447), PUS1(80324), ACTB(60), SNRPN(6638), FH(2271), UPF3B(65109), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CDKN1C(1028), FGF10(2255), FGF3(2248), CECR(1055), FGD1(2245), ASPM(259266), EDAR(10913), FOXC2(2303), ADA(100), HPGD(3248), SMCR(6600), NDUFA11(126328), HOXD13(3239), CUL7(9820), ERBB3(2065), ERCC2(2068), TRIM32(22954), ERCC3(2071), PRPS1(5631), STRA6(64220), ERCC6(2074), MTM1(4534), SGSH(6448), MAP2K1(5604), MAP2K2(5605), MTHFR(4524), ZIC1(7545), MAPK10(5602), AGA(175), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), AGTR1(185), COL1A2(1278), ZNF469(84627), KIAA1279(26128), COL1A1(1277), JAG1(182), RAB3GAP1(22930), XPA(7507), AGT(183), WHCR(7467), SIX3(6496), WHSC1(7468), ERCC8(1161), CEP290(80184), MVK(4598), MED12(9968), EIF2B2(8892), EIF2B5(8893), PPT1(5538), TRIM37(4591), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), WNT3(7473), HEXB(3074), PHGDH(26227), NOP10(55505), FRAS1(80144), SHH(6469), FANCA(2175), TSEN54(283989), SHOX(6473), WAS(7454), GORAB(92344), ALPL(249), LEPRE1(64175), ANCR(282), NSD1(64324), VDR(7421), ESCO2(157570), ALX3(257), GNE(10020), IHH(3549), SC5DL(6309), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), RAB39B(116442), PEX1(5189), PEX7(5191), IL2RG(3561), C10orf2(56652), SLC17A5(26503), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), MAN2B1(4125), PDHA1(5160), INPP5E(56623), NHP2(55651), MECP2(4204), COL11A2(1302), COL11A1(1301), IGF1(3479), IGBP1(3476), GPC6(10082), IGF1R(3480), UBE3A(7337), FUCA1(2517), TTC8(123016), PEX26(55670), PQBP1(10084), POMGNT1(55624), VPS13B(157680), UBA1(7317), CHD7(55636), ARSB(411), PLOD1(5351), ARSE(415), LARGE(9215), TWIST1(7291), RPS6KA3(6197), PLP1(5354), FLNA(2316), PLOD2(5352), FLNB(2317), CTNS(1497), IDS(3423), MID1(4281), PMM2(5373), NKX2-5(1482), FMR1(2332), ASPA(443), LRPPRC(10128), TSHB(7252), SP110(3431), CTSD(1509), ARX(170302), PLG(5340), CTSK(1513), MGAT2(4247), TRPS1(7227), HSPG2(3339), CD96(10225), ATM(472), ATIC(471), HSPD1(3329), PITX2(5308), ALG3(10195), PHEX(5251), CDK5RAP2(55755), HYLS1(219844), CSF3R(1441), MMP2(4313), TPM2(7169), CENPJ(55835), NPR2(4882), ATRX(546), ATR(545), TGFBR1(7046), TGFB1(7040), REN(5972), ACE(1636), GLI3(2737), DCR(1637), GLE1(2733), ADAMTS10(81794), RPGRIP1L(23322), EMG1(10436), GLB1(2720), GPC3(2719), DYNC2H1(79659), CRTAP(10491), SEC23A(10484), ROR2(4920), DDR2(4921), MCPH1(79648), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), ATP7A(538), KCNJ11(3767), MKKS(8195), RAPSN(5913), COL18A1(80781), AAAS(8086), CYP27B1(1594), RAG2(5897), RAG1(5896), KCNJ2(3759), KCNJ1(3758), GNAS(2778), TRIP11(9321), BBS1(582), TNFRSF11B(4982), BBS2(583), OPHN1(4983), TNNI2(7136), BBS4(585), NDUFAF4(29078), TNNT3(7140), NIPBL(25836), BBS10(79738), ZFPM2(23414), SNAP29(9342), KDM5C(8242), FAM123B(139285), DOK7(285489), PLA2G6(8398), SLC25A22(79751), TBX15(6913), ZIC4(84107), ARL6(84100), GATA1(2623), B4GALT7(11285), BRAF(673), BUB1B(701), TREX1(11277), BTK(695), TCIRG1(10312), DNMT3B(1789), PAH(5053), TCOF1(6949), BMP4(652), DLAT(1737), DKC1(1736), BLM(641), PSAT1(29968), MKS1(54903), DLX3(1747), GNPAT(8443), RECQL4(9401), PDHX(8050), DMP1(1758), POMT2(29954), GAD1(2571), EHMT1(79813), B4GALT1(2683), TNFRSF13B(23495), PAX3(5077), ZMPSTE24(10269), INS(3630), DHCR24(1718), RMRP(6023), DGUOK(1716), CA2(760), DHCR7(1717), GDF1(2657), DGCR(1714), FAM20C(56975), DYM(54808), CYB5R3(1727), SH3PXD2B(285590), GFAP(2670), PAK3(5063), HGSNAT(138050), ALG1(56052), GCK(2645), PCNT(5116), SOST(50964), CHST14(113189), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), GCDH(2639), MYCN(4613), TBX4(9496), GUSB(2990), BBS5(129880), MYH3(4621), EDA(1896), IKBKG(8517), CDKL5(6792), MYH8(4626), AURKC(6795), PTCH1(5727), LRP2(4036), LRP5(4041), PTEN(5728), MCOLN1(57192), ABCC8(6833), AP3B1(8546), RAI1(10743), RAB23(51715), NAGLU(4669), PTH1R(5745), ICOS(29851), ADAMTS2(9509), LMNA(4000), HCCS(3052), NBN(4683), CYP2R1(120227), PRPS2(5634), SLC26A2(1836), NDN(4692), PHF6(84295), NDUFA1(4694), RELN(5649), SYN1(6853), ALX4(60529), ANKH(56172), TBCE(6905), TBX1(6899), PORCN(64840), PEX3(8504), NDUFS1(4719), LIFR(3977), RUNX2(860), EBP(10682), TUBA1A(7846), NDUFV1(4723), NDUFS2(4720), OFD1(8481), BBS7(55212), NDUFS6(4726), ALMS1(7840), NDUFS4(4724), MOGS(7841), DPAGT1(1798), PAX8(7849), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), PEX5(5830), NDUFAF2(91942), SOX9(6662), SOX2(6657), NF1(4763), NSDHL(50814), SLC35D1(23169), POMT1(10585), NDUFAF3(25915), D2HGDH(728294), PNPO(55163), LBR(3930), MLC1(23209), GFM1(85476), SPR(6697), TNFSF11(8600), DNAI1(27019), PTPN11(5781), L1CAM(3897), EIF2B1(1967), FREM2(341640), ADAMTSL2(9719), STAT3(6774), TP63(8626), KRAS(3845), EFNB1(1947), MMACHC(25974), SEMA3E(9723), PNP(4860), SLC34A3(142680)]
ABNORMALITY OF THE SKULL BASE(HP:0002693)	[ANKH(56172), LBR(3930), BUB1B(701), ZIC1(7545), ZIC4(84107), FGFR2(2263), HYLS1(219844), PTH1R(5745), TGFB1(7040), FLNA(2316)]
ABNORMALITY OF THE SMALL INTESTINE(HP:0002244)	[SAR1B(51128), MYCN(4613), PRSS1(5644), FRAS1(80144), WHCR(7467), SALL1(6299), GPC3(2719), PEX2(5828), WHSC1(7468), PEX1(5189), GATA1(2623), AKR1D1(6718), CCBE1(147372), FGFR1(2260), DCR(1637), MPI(4351), LIPA(3988), SPINK1(6690), SBDS(51119), ENG(2022), PLG(5340), FREM2(341640), MTTP(4547), PEX26(55670)]
ABNORMALITY OF THE SPINAL CORD(HP:0002143)	[EP300(2033), ARSB(411), MYH3(4621), CCBE1(147372), SALL4(57167), SETX(23064), CCT5(22948), PRPS1(5631), FLNB(2317), IDS(3423), ABCA1(19), NF1(4763), PTCH1(5727), ENG(2022), GNPTAB(79158), GLB1(2720), AFP(174), IRF6(3664), GALNS(2588), PTEN(5728), DDR2(4921), C10orf2(56652), GJA1(2697), CREBBP(1387), VANGL1(81839), RECQL4(9401), RAB23(51715), TNFRSF11A(8792), EXT2(2132), SQSTM1(8878), ENPP1(5167), COMP(1311), EXT1(2131), APP(351), APOE(348), POLG(5428), PAX3(5077), LMX1B(4010), PTPN11(5781), SLC26A2(1836), RMRP(6023), PSEN1(5663), NME1(4830), COL2A1(1280), ACVRL1(94), FOXC2(2303), PHEX(5251), PORCN(64840), RUNX2(860), TRPV4(59341), HOXD13(3239), CUL7(9820), MNX1(3110)]
ABNORMALITY OF THE SPINAL DURA MATER(HP:0009744)	[FOXC2(2303)]
ABNORMALITY OF THE SPINAL MENINGES(HP:0010303)	[FOXC2(2303)]
ABNORMALITY OF THE SPLEEN(HP:0001743)	[MYCN(4613), GUSB(2990), CPOX(1371), LYZ(4069), SH2D1A(4068), DPM1(8813), ANK1(286), ESCO2(157570), FAH(2184), SLC7A7(9056), ABCA1(19), THPO(7066), AURKC(6795), NPC1(4864), CTSA(5476), GNE(10020), GNPTAB(79158), GLB1(2720), SC5DL(6309), GPC3(2719), LYST(1130), UROS(7390), C10orf2(56652), MPL(4352), AP3B1(8546), MPV17(4358), SLC17A5(26503), ATP8B1(5205), NAGLU(4669), RAB23(51715), MAN2B1(4125), GP1BA(2811), HBB(3043), APOE(348), APOC2(344), PDGFRA(5156), AIRE(326), NCF2(4688), PSAP(5660), LPL(4023), GNS(2799), MEFV(4210), RAG2(5897), RAG1(5896), APOA1(335), FUCA1(2517), FGA(2243), BSCL2(26580), ADA(100), SLC39A4(55630), G6PD(2539), CYBB(1536), JAK2(3717), LIPA(3988), TPI1(7167), FAS(355), GAA(2548), CASP10(843), CASP8(841), CASR(846), SMPD1(6609), ABCD3(5825), ARSB(411), BTD(686), CD40LG(959), PEX2(5828), GATA1(2623), ERCC4(2072), STRA6(64220), ERCC6(2074), BRAF(673), CTNS(1497), MAP2K1(5604), IDS(3423), SGSH(6448), MAP2K2(5605), NPC2(10577), ZIC3(7547), TREX1(11277), ABCB11(8647), FMO3(2328), NEU1(4758), TCIRG1(10312), GALE(2582), GPI(2821), ABCG8(64241), PKLR(5313), ABCG5(64240), PKHD1(5314), AKR1D1(6718), CYBA(1535), LBR(3930), MKS1(54903), BPGM(669), ASAH1(427), TNFSF11(8600), WHCR(7467), HK1(3098), WHSC1(7468), DNAI1(27019), ERCC8(1161), TNFRSF13B(23495), MVK(4598), DGUOK(1716), CA2(760), NCF1(653361), WNT3(7473), HEXB(3074), NPHP3(27031), HFE(3077), SLC4A1(6521), HGSNAT(138050), ALG1(56052), DCLRE1C(64421), KRAS(3845), HYLS1(219844), ALDOA(226), CSF3R(1441), GBA(2629), PNP(4860), AGPAT2(10555), GBE1(2632)]
ABNORMALITY OF THE STERNUM(HP:0000766)	[FBN1(2200), RET(5979), FBN2(2201), ARSB(411), EP300(2033), GUSB(2990), EFEMP2(30008), RPS6KA3(6197), CCBE1(147372), TGFBR1(7046), VDR(7421), HSD17B4(3295), BRAF(673), PLOD2(5352), FLNA(2316), SLC16A2(6567), CTNS(1497), FLNB(2317), MAP2K1(5604), MAP2K2(5605), NOG(9241), BUB1B(701), SOX9(6662), HRAS(3265), PTCH1(5727), PPIB(5479), IHH(3549), FMR1(2332), GLB1(2720), GPC3(2719), CRTAP(10491), GALNS(2588), B3GALTL(145173), PTEN(5728), ROR2(4920), DDR2(4921), LBR(3930), RAB3GAP2(25782), GJA1(2697), CREBBP(1387), COL1A2(1278), PDHX(8050), MAN2B1(4125), MGAT2(4247), ATP7A(538), HSPG2(3339), TRPS1(7227), WHCR(7467), UPF3B(65109), CD96(10225), WHSC1(7468), ZEB2(9839), FGFR3(2261), EVC2(132884), LOX(4015), LMX1B(4010), PTPN11(5781), MED12(9968), SOS1(6654), FBLN5(10516), CYP27B1(1594), IGBP1(3476), DYM(54808), FGD1(2245), COL2A1(1280), IGF1R(3480), FREM2(341640), CBS(875), WNT7A(7476), EVC(2121), PQBP1(10084), ADAMTSL2(9719), FRAS1(80144), ABCC6(368), TBX5(6910), TNNT1(7138), KRAS(3845), NIPBL(25836), EFNB1(1947), TRPV4(59341), KDM5C(8242), HOXD13(3239), SLC34A3(142680), ALPL(249), CUL7(9820), GNPTG(84572), SMS(6611)]
ABNORMALITY OF THE STOMACH(HP:0002577)	[FBN1(2200), ERBB2(2064), WHCR(7467), ATRX(546), WHSC1(7468), DDC(1644), PIK3CA(5290), TBX3(6926), FGFR2(2263), MECP2(4204), POLG(5428), BRAF(673), MUTYH(4595), MTM1(4534), MAP2K1(5604), AIRE(326), MED12(9968), MAP2K2(5605), ITGB4(3691), IKBKAP(8518), MID1(4281), APC(324), DHCR7(1717), NPHS1(4868), MAPK10(5602), TREX1(11277), APOA1(335), TYMP(1890), CDH1(999), LAMB3(3914), SALL1(6299), LAMC2(3918), TSPYL1(7259), PORCN(64840), KRAS(3845), TFAP2A(7020), NIPBL(25836), LAMA3(3909), C10orf2(56652), WNK1(65125), IRF1(3659), MCEE(84693), CASP10(843), GIF(2694), KLF6(1316), ITGA6(3655), ATP7A(538)]
ABNORMALITY OF THE STYLOID PROCESS(HP:0004035)	[COL2A1(1280)]
ABNORMALITY OF THE SUBUNGUAL REGION(HP:0009723)	[ATP2A2(488), TSC1(7248), TSC2(7249)]
ABNORMALITY OF THE SWEAT GLANDS(HP:0000971)	[PRNP(5621), RET(5979), LMNB1(4001), SLURP1(57152), COL17A1(1308), SDHD(6392), ERCC8(1161), SDHC(6391), TBX3(6926), SDHB(6390), ERCC6(2074), NGF(4803), KRT17(3872), EDARADD(128178), CTNS(1497), EDA(1896), COL6A1(1291), ITGB4(3691), IKBKAP(8518), TTR(7276), COL6A2(1292), COL6A3(1293), FUCA1(2517), EDAR(10913), LAMB3(3914), KRT6B(3854), GLA(2717), LAMC2(3918), CLCF1(23529), KIF1B(23095), NTRK1(4914), TP63(8626), DKC1(1736), GJB2(2706), LAMA3(3909), VHL(7428), WNK1(65125), IGHMBP2(3508), ATP2A2(488), MBTPS2(51360), KRT14(3861), WNT10A(80326)]
ABNORMALITY OF THE SYNOVIA(HP:0005262)	[PRG4(10216)]
ABNORMALITY OF THE TALUS BONE(HP:0008365)	[PHEX(5251)]
ABNORMALITY OF THE TARSAL BONES(HP:0001850)	[PEX19(5824), PEX5(5830), RAPSN(5913), FGFR1(2260), MYH3(4621), NSD1(64324), LMBR1(64327), GDF5(8200), FGFR2(2263), ERCC6(2074), COL11A2(1302), ZMPSTE24(10269), FLNA(2316), FLNB(2317), NOG(9241), MATN3(4148), HOXA13(3209), SLC35D1(23169), EMG1(10436), WNT7A(7476), PEX26(55670), CANT1(124583), PHEX(5251), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), TNNI2(7136), PEX3(8504), TNNT3(7140), EIF2AK3(9451), EBP(10682), LBR(3930), MMP2(4313), DOK7(285489), CHRNG(1146), HOXD10(3236), TPM2(7169), POR(5447), COL1A2(1278), PTH1R(5745), BMPR1B(658)]
ABNORMALITY OF THE TEETH(HP:0000164)	[FBN1(2200), TINF2(26277), ATRX(546), ATR(545), CCBE1(147372), EDARADD(128178), TGFB1(7040), GLI3(2737), SLC35C1(55343), ADAMTS10(81794), PPIB(5479), UBR1(197131), BBS9(27241), GNPTAB(79158), GLB1(2720), GPC3(2719), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), RAB3GAP2(25782), GJA1(2697), CHRNE(1145), TNFRSF11A(8792), CHRNB1(1140), WNT10A(80326), MKKS(8195), GP1BA(2811), SNRPN(6638), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), BBS12(166379), FGF23(8074), FAM83H(286077), FGF10(2255), CYP27B1(1594), FGF3(2248), FGD1(2245), KCNJ2(3759), EDAR(10913), ACVR1(90), GNAS(2778), BBS1(582), TNFRSF11B(4982), BBS2(583), BBS4(585), NIPBL(25836), BBS10(79738), KDM5C(8242), HOXD13(3239), FAM123B(139285), CTSC(1075), TRIM32(22954), TBX15(6913), ARL6(84100), ERCC4(2072), TBX3(6926), ERCC6(2074), BRAF(673), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), ITGB2(3689), SH3BP2(6452), MAPK10(5602), KL(9365), TCIRG1(10312), BCOR(54880), SOX18(54345), GALNS(2588), DKC1(1736), IRF6(3664), GALNT3(2591), BLM(641), MKS1(54903), DLX3(1747), AHCY(191), COL1A2(1278), RECQL4(9401), ZNF469(84627), COL1A1(1277), MSX1(4487), ITGA6(3655), GJB6(10804), WHCR(7467), INSR(3643), WHSC1(7468), SIX3(6496), ERCC8(1161), CEP290(80184), MUSK(4593), ZMPSTE24(10269), EYA1(2138), MED12(9968), DHCR24(1718), RMRP(6023), CA2(760), TRIM37(4591), DHCR7(1717), SH3PXD2B(285590), EVC(2121), SMARCAL1(50485), NOP10(55505), FRAS1(80144), SHH(6469), PCNT(5116), TERC(7012), TERT(7015), SOST(50964), ALDOB(229), TFAP2A(7020), ALDH3A2(224), ATP6V0A2(23545), ALPL(249), CHST3(9469), LEPRE1(64175), BBS5(129880), CLDN1(9076), ANCR(282), NSD1(64324), VDR(7421), EDA(1896), FERMT1(55612), IKBKG(8517), ALX3(257), CDKL5(6792), AURKC(6795), AMELY(266), AMELX(265), LRP5(4041), VSX1(30813), AP3B1(8546), CREBBP(1387), CNNM4(26504), RAB23(51715), PTH1R(5745), SUOX(6821), MAN2B1(4125), ADAMTS2(9509), LMNA(4000), COL17A1(1308), EVC2(132884), NHP2(55651), MECP2(4204), COL11A1(1301), COL5A2(1290), AIRE(326), APC(324), COL5A1(1289), NDN(4692), COL7A1(1294), DSP(1832), DSPP(1834), UBE3A(7337), COL3A1(1281), CBS(875), TTC8(123016), ANKH(56172), TBCE(6905), VPS13B(157680), PORCN(64840), LIFR(3977), RUNX2(860), OFD1(8481), BBS7(55212), ALMS1(7840), PLOD1(5351), EP300(2033), KLK4(9622), RPS6KA3(6197), FLNA(2316), FLNB(2317), IDS(3423), LAMB3(3914), LAMC2(3918), TSC1(7248), TSC2(7249), LAMA3(3909), ENAM(10117), LBR(3930), ARX(170302), MBTPS2(51360), PLG(5340), CTSK(1513), PLEC(5339), MGAT2(4247), TNFSF11(8600), CTDP1(9150), TRPS1(7227), NHS(4810), CD96(10225), KRT17(3872), CDH3(1001), PTPN11(5781), FREM2(341640), PITX2(5308), KRT6B(3854), ST14(6768), PHEX(5251), STAT3(6774), TP63(8626), KRAS(3845), MMP2(4313), KRT14(3861), PVRL1(5818)]
ABNORMALITY OF THE TESTIS(HP:0000035)	[FBN1(2200), GUSB(2990), ATRX(546), BBS5(129880), PROK2(60675), ATR(545), MYH3(4621), NELF(26012), CCBE1(147372), NSD1(64324), GLRB(2743), GLRA1(2741), H19(283120), DNAJC19(131118), GLI3(2737), ESCO2(157570), KCNQ1OT1(10984), FANCD2(2177), FANCC(2176), GNE(10020), FANCE(2178), UBR1(197131), GNPTAB(79158), BBS9(27241), AMH(268), GLB1(2720), AMHR2(269), SALL1(6299), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), SEC23A(10484), B3GALTL(145173), PTEN(5728), ROR2(4920), DCAF17(80067), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CREBBP(1387), POR(5447), RAB23(51715), MAN2B1(4125), ADAMTS2(9509), MKKS(8195), SNRPN(6638), RAPSN(5913), ZEB2(9839), FGFR1(2260), EVC2(132884), OCRL(4952), LOX(4015), TAC3(6866), MECP2(4204), FGFR2(2263), POLG(5428), CDKN1C(1028), BBS12(166379), TACR3(6870), COL5A2(1290), SLC26A2(1836), CUL4B(8450), SOS1(6654), COL5A1(1289), NDN(4692), PHF6(84295), POLA1(5422), GPC6(10082), FGD1(2245), COL2A1(1280), CBS(875), COL3A1(1281), PQBP1(10084), PEX26(55670), TTC8(123016), CYP11B1(1584), FOXC2(2303), HPRT1(3251), LHCGR(3973), TBCE(6905), UBA1(7317), SLC39A4(55630), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), TBX1(6899), BBS4(585), PORCN(64840), PEX3(8504), NIPBL(25836), BBS10(79738), KDM5C(8242), OFD1(8481), BBS7(55212), DOK7(285489), CUL7(9820), AR(367), SMS(6611), CHD7(55636), PEX19(5824), ABCD3(5825), PLOD1(5351), ARSB(411), EP300(2033), DMPK(1760), PEX2(5828), PEX5(5830), STS(412), EFEMP2(30008), TRIM32(22954), RPS6KA3(6197), ARL6(84100), TBX3(6926), ERCC6(2074), STRA6(64220), PLOD2(5352), FLNA(2316), MTM1(4534), FLNB(2317), IDS(3423), MID1(4281), BUB1B(701), SOX2(6657), FLT4(2324), NEU1(4758), FMR1(2332), TCOF1(6949), BMP4(652), ELN(2006), AGA(175), TSPYL1(7259), SOX18(54345), GALNS(2588), DKC1(1736), IRF6(3664), BLM(641), MKS1(54903), KISS1R(84634), NR0B1(190), ARX(170302), MBTPS2(51360), COL1A2(1278), RECQL4(9401), SLC6A5(9152), COL1A1(1277), RAB3GAP1(22930), HSPG2(3339), WHCR(7467), WFS1(7466), CD96(10225), WHSC1(7468), INSL3(3640), ERCC8(1161), CEP290(80184), PTPN11(5781), MED12(9968), GPHN(10243), DHCR7(1717), DGCR(1714), RXFP2(122042), FBLN5(10516), FREM2(341640), WNT7A(7476), EVC(2121), HFE(3077), PHGDH(26227), FRAS1(80144), F13A1(2162), TP63(8626), FANCA(2175), SEMA3E(9723), TFAP2A(7020), ATP6V0A2(23545), TPM2(7169), LEPRE1(64175)]
ABNORMALITY OF THE THENAR EMINENCE(HP:0001227)	[FGF10(2255), HOXA13(3209), SALL4(57167), FGFR3(2261)]
ABNORMALITY OF THE THIGH(HP:0001439)	[TBX4(9496), RET(5979), VDR(7421), PLOD2(5352), FLNA(2316), FLNB(2317), MATN3(4148), IHH(3549), LBR(3930), GNPAT(8443), POR(5447), COL1A2(1278), ACAN(176), COL1A1(1277), BMPR1B(658), TRAPPC2(6399), TRPS1(7227), HSPG2(3339), COMP(1311), LMNA(4000), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), MMP13(4322), COL11A2(1302), CYP2R1(120227), COL11A1(1301), LMX1B(4010), SLC26A2(1836), CYP27B1(1594), SBDS(51119), DYM(54808), COL2A1(1280), WNT7A(7476), ACVR1(90), SMARCAL1(50485), ADAMTSL2(9719), ANKH(56172), PHEX(5251), CLCN5(1184), PCNT(5116), WISP3(8838), SHOX(6473), TRPV4(59341), GBA(2629), SLC34A3(142680), GNPTG(84572), LEPRE1(64175)]
ABNORMALITY OF THE THORAX(HP:0000765)	[FBN1(2200), FBN2(2201), FKRP(79147), RET(5979), NPR2(4882), ATR(545), TGFBR1(7046), CCBE1(147372), HSD17B4(3295), SLC16A2(6567), GLI3(2737), GLE1(2733), NOG(9241), HRAS(3265), ADAMTS10(81794), PPIB(5479), MATR3(9782), GNPTAB(79158), GLB1(2720), CHRNA1(1134), GPC3(2719), DYNC2H1(79659), CRTAP(10491), B3GALTL(145173), ROR2(4920), DDR2(4921), ACOX1(51), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), CHRNG(1146), CHRND(1144), ATP7A(538), ACTB(60), UPF3B(65109), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), FGFR2(2263), SOS1(6654), GNS(2799), CYP27B1(1594), SBDS(51119), TNFRSF1A(7132), FGD1(2245), KCNJ2(3759), CYP21A2(1589), GDF6(392255), ADA(100), TRIP11(9321), TNNT1(7138), NIPBL(25836), TRPV4(59341), KDM5C(8242), HOXD13(3239), FAM123B(139285), DOK7(285489), CUL7(9820), GNPTG(84572), SMS(6611), ERCC2(2068), TBX15(6913), EFEMP2(30008), ERCC3(2071), TRIM32(22954), ERCC4(2072), TBX3(6926), SGCB(6443), STRA6(64220), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), SGSH(6448), MAP2K2(5605), BUB1B(701), GALNS(2588), WT1(7490), MSX2(4488), COL1A2(1278), RECQL4(9401), PDHX(8050), COL1A1(1277), JAG1(182), EXT2(2132), WHCR(7467), WHSC1(7468), EXT1(2131), PAX3(5077), ZMPSTE24(10269), EYA1(2138), MED12(9968), RMRP(6023), DYM(54808), WNT3(7473), WNT7A(7476), EVC(2121), FRAS1(80144), HGSNAT(138050), SOST(50964), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), ALPL(249), CHST3(9469), LEPRE1(64175), VCP(7415), MYOT(9499), GUSB(2990), MYH3(4621), SALL4(57167), NSD1(64324), VDR(7421), CAPN3(825), IKBKG(8517), ALX3(257), MYH7(4625), MATN3(4148), AURKC(6795), PTCH1(5727), GNE(10020), IHH(3549), CANT1(124583), SEPN1(57190), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), LRP5(4041), PTEN(5728), SLC17A5(26503), CREBBP(1387), NAGLU(4669), PTH1R(5745), CPT2(1376), MAN2B1(4125), TRAPPC2(6399), LMNA(4000), HCCS(3052), EVC2(132884), LOX(4015), CYP2R1(120227), LMX1B(4010), SLC26A2(1836), IGBP1(3476), IGF1R(3480), COL2A1(1280), FUCA1(2517), CBS(875), PEX26(55670), PQBP1(10084), NEB(4703), TBCE(6905), UBA1(7317), TBX5(6910), ABCC6(368), PORCN(64840), PEX3(8504), LIFR(3977), RUNX2(860), EBP(10682), DLL3(10683), OFD1(8481), IGHMBP2(3508), GAA(2548), AR(367), CASR(846), CHD7(55636), PEX19(5824), EP300(2033), ARSB(411), PEX5(5830), SERPINF2(5345), RPS6KA3(6197), MGP(4256), FLNA(2316), PLOD2(5352), FLNB(2317), CTNS(1497), SOX9(6662), SOX2(6657), NSDHL(50814), SLC35D1(23169), ANO5(203859), FMR1(2332), LAMB1(3912), EMD(2010), LBR(3930), CTSK(1513), MGAT2(4247), HSPG2(3339), TRPS1(7227), CD96(10225), MMP13(4322), PTPN11(5781), FBLN5(10516), NME1(4830), FREM2(341640), ADAMTSL2(9719), KRAS(3845), HYLS1(219844), EFNB1(1947), SEMA3E(9723), MMP2(4313), SLC34A3(142680), TPM2(7169)]
ABNORMALITY OF THE THUMB(HP:0001172)	[FBN2(2201), EP300(2033), MYH3(4621), SALL4(57167), NSD1(64324), LMBR1(64327), MGP(4256), FLNA(2316), GLI3(2737), FLNB(2317), ESCO2(157570), NOG(9241), FANCD2(2177), FANCC(2176), IHH(3549), FANCE(2178), CANT1(124583), BMP4(652), SALL1(6299), GPC3(2719), B3GALTL(145173), PTEN(5728), ROR2(4920), SLC9A6(10479), CREBBP(1387), RECQL4(9401), RAB23(51715), MGAT2(4247), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), MED12(9968), SLC26A2(1836), FGF10(2255), DHCR7(1717), L1CAM(3897), HOXA13(3209), COL2A1(1280), FREM2(341640), PHGDH(26227), ACVR1(90), FRAS1(80144), ALG3(10195), PCNT(5116), TBX5(6910), FANCA(2175), CHST14(113189), HYLS1(219844), SEMA3E(9723), NIPBL(25836), TFAP2A(7020), LIFR(3977), OFD1(8481), HOXD13(3239), TPM2(7169), CHD7(55636)]
ABNORMALITY OF THE THYMUS(HP:0000777)	[FRAS1(80144), ABCD3(5825), AK2(204), ADA(100), PEX2(5828), ATM(472), DCLRE1C(64421), TBX1(6899), IL2RG(3561), DGCR(1714), RAG2(5897), RAG1(5896), FREM2(341640)]
ABNORMALITY OF THE THYROID GLAND(HP:0000820)	[RET(5979), FOXE1(2304), TRIM24(8805), CCBE1(147372), GATA1(2623), HSD17B3(3293), NRAS(4893), GLI3(2737), CTNS(1497), PROP1(5626), DCR(1637), TRIM33(51592), FOXP3(50943), IYD(389434), TTR(7276), THRB(7068), NPHS1(4868), CCDC6(8030), THRA(7067), NCOA4(8031), NSDHL(50814), PMM2(5373), UBR1(197131), BMP4(652), SALL1(6299), NKX2-1(7080), DIO1(1733), NTRK1(4914), TSHB(7252), TSHR(7253), SLC5A5(6528), PTEN(5728), TSC1(7248), TSC2(7249), PRKAR1A(5573), JAG1(182), WFS1(7466), LHX4(89884), MINPP1(9562), APOE(348), CDC73(79577), EYA1(2138), APC(324), DGCR(1714), MEN1(4221), TRH(7200), SLC26A4(5172), GNAS(2778), TBX1(6899), PCM1(5108), DUOXA2(405753), ALMS1(7840), TPO(7173), GOLGA5(9950), TG(7038), PAX8(7849)]
ABNORMALITY OF THE TIBIA(HP:0002992)	[CLCN5(1184), PHEX(5251), LMBR1(64327), GDF5(8200), VDR(7421), HYLS1(219844), MMP13(4322), COL11A1(1301), FLNA(2316), CYP2R1(120227), SHOX(6473), FLNB(2317), SOX9(6662), CYP27B1(1594), NF1(4763), SLC34A3(142680), GPC6(10082), IHH(3549), COL1A1(1277), LEPRE1(64175)]
ABNORMALITY OF THE TOENAILS(HP:0008388)	[LBR(3930), NOG(9241), RAB3GAP2(25782), FGFR1(2260), PORCN(64840), GDF5(8200), CPT2(1376)]
ABNORMALITY OF THE TOES(HP:0001780)	[MYCN(4613), FBN1(2200), TBX4(9496), NPR2(4882), BBS5(129880), SACS(26278), ATR(545), SALL4(57167), FBLN1(2192), MYH3(4621), NSD1(64324), LMBR1(64327), HSD17B4(3295), GLI3(2737), SLC16A2(6567), NOG(9241), MYH8(4626), RAB7A(7879), RPGRIP1L(23322), GNE(10020), IHH(3549), BBS9(27241), SC5DL(6309), CANT1(124583), SBF2(81846), SALL1(6299), GPC3(2719), KIF1B(23095), ROR2(4920), RAB3GAP2(25782), MPZ(4359), GJA1(2697), CREBBP(1387), RAB23(51715), ADAMTS2(9509), MKKS(8195), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), BBS12(166379), SLC26A2(1836), FGF10(2255), DSP(1832), PHF6(84295), HOXA13(3209), KCNJ2(3759), COL2A1(1280), TTC8(123016), ACVR1(90), BSCL2(26580), GNAS(2778), BBS1(582), BBS2(583), PORCN(64840), BBS4(585), NIPBL(25836), LIFR(3977), BBS10(79738), OFD1(8481), BBS7(55212), HOXD13(3239), PMP22(5376), SMS(6611), EP300(2033), TWIST1(7291), TRIM32(22954), TBX15(6913), NEFL(4747), ARL6(84100), TBX3(6926), MGP(4256), GARS(2617), FLNA(2316), FLNB(2317), BMP4(652), BCOR(54880), PRX(57716), MKS1(54903), LBR(3930), BMPR1B(658), HSPG2(3339), WHCR(7467), CD96(10225), WHSC1(7468), CEP290(80184), MED12(9968), RMRP(6023), EGR2(1959), DHCR7(1717), WNT7A(7476), EVC(2121), MFN2(9927), TP63(8626), HYLS1(219844), EFNB1(1947), SUMF1(285362), PVRL1(5818)]
ABNORMALITY OF THE TONGUE(HP:0000157)	[SH3TC2(79628), PEX19(5824), ARSB(411), FKRP(79147), ATRX(546), TBX15(6913), PEX5(5830), MYH3(4621), GATA1(2623), ANCR(282), NSD1(64324), H19(283120), GLI3(2737), DCR(1637), IDS(3423), KCNQ1OT1(10984), IKBKAP(8518), CDKL5(6792), HRAS(3265), ALS2(57679), ENG(2022), GNPTAB(79158), DNMT3B(1789), BMP4(652), GPC3(2719), AGA(175), PEX10(5192), PEX14(5195), TSPYL1(7259), PEX13(5194), TSHB(7252), PEX1(5189), SLC5A5(6528), PTEN(5728), ROR2(4920), GJB2(2706), MKS1(54903), C20orf54(113278), MAN2B1(4125), EHMT1(79813), INPP5E(56623), MECP2(4204), CDKN1C(1028), LMBRD1(55788), HEXB(3074), FUCA1(2517), UBE3A(7337), FREM2(341640), ACVRL1(94), PEX26(55670), SMN1(6606), FRAS1(80144), PEX3(8504), WNK1(65125), OFD1(8481), KDM5C(8242), GAA(2548), PAX8(7849)]
ABNORMALITY OF THE TRACHEA(HP:0002778)	[ADAMTSL2(9719), FGFR1(2260), HYLS1(219844), FGFR2(2263), DDR2(4921), FLNB(2317), EBP(10682), SLC26A2(1836), IDS(3423), LBR(3930), RAB3GAP2(25782), SOX9(6662), GJA1(2697), COL2A1(1280)]
ABNORMALITY OF THE TRACHEOBRONCHIAL SYSTEM(HP:0005607)	[DNAI1(27019), ATM(472), FGFR1(2260), TNFRSF13B(23495), NBN(4683), FGFR2(2263), FLNB(2317), SLC26A2(1836), IDS(3423), COL4A6(1288), SOX9(6662), COL2A1(1280), DNMT3B(1789), ADAMTSL2(9719), CD8A(925), HYLS1(219844), BLM(641), DDR2(4921), EBP(10682), LBR(3930), RAB3GAP2(25782), CFTR(1080), GJA1(2697), POR(5447), ICOS(29851), SCNN1B(6338)]
ABNORMALITY OF THE TRICUSPID VALVE(HP:0001702)	[FBN1(2200), FLNA(2316)]
ABNORMALITY OF THE ULNA(HP:0002997)	[FGFR1(2260), SALL4(57167), FGFR3(2261), TBX3(6926), LMBR1(64327), GDF5(8200), FGFR2(2263), MMP13(4322), FLNA(2316), SHOX(6473), FLNB(2317), B2M(567), FGF10(2255), RAB3GAP2(25782), HOXA11(3207), POR(5447), RECQL4(9401), COL2A1(1280), IHH(3549), JAG1(182), WNT7A(7476), BMPR1B(658)]
ABNORMALITY OF THE UMBILICUS(HP:0001551)	[FBN1(2200), HSPG2(3339), ARSB(411), GUSB(2990), ATRX(546), EFEMP2(30008), CCBE1(147372), NSD1(64324), GLRB(2743), LOX(4015), GLRA1(2741), GLI3(2737), IDS(3423), SLC26A2(1836), MED12(9968), COL5A2(1290), GPHN(10243), COL5A1(1289), DGCR(1714), FBLN5(10516), FGD1(2245), GPC6(10082), COL2A1(1280), FREM2(341640), GNPTAB(79158), BSCL2(26580), FRAS1(80144), SALL1(6299), GPC3(2719), LRP2(4036), TSHB(7252), TBX1(6899), PORCN(64840), SLC5A5(6528), B3GALTL(145173), ROR2(4920), SEMA3E(9723), EFNB1(1947), NIPBL(25836), LBR(3930), CHRNG(1146), AGPAT2(10555), SLC6A5(9152), COL1A1(1277), RAB23(51715), CHD7(55636), ADAMTS2(9509), PAX8(7849)]
ABNORMALITY OF THE UPPER ARM(HP:0001454)	[FGFR1(2260), SALL4(57167), TBX3(6926), LMBR1(64327), GDF5(8200), FGFR2(2263), FLNA(2316), LMX1B(4010), FLNB(2317), TRPV4(59341), NOG(9241), GNPAT(8443), DYM(54808), POR(5447), GPC6(10082), RECQL4(9401), CHST3(9469), IHH(3549), GNPTAB(79158), ATP7A(538)]
ABNORMALITY OF THE UPPER LIMBS(HP:0002817)	[FBN1(2200), FKRP(79147), FBN2(2201), ATRX(546), NPR2(4882), ATR(545), SACS(26278), FBLN1(2192), CCBE1(147372), TGFBR1(7046), HSD17B4(3295), DCTN1(1639), H19(283120), DPM1(8813), DCR(1637), GLI3(2737), B2M(567), ABCA1(19), NOG(9241), HRAS(3265), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), MATR3(9782), FANCE(2178), EMG1(10436), UBR1(197131), GNPTAB(79158), BBS9(27241), GLB1(2720), SBF2(81846), GLA(2717), NOD2(64127), GPC3(2719), HSPB1(3315), NTRK1(4914), B3GALTL(145173), ROR2(4920), DDR2(4921), GJB2(2706), SLC9A6(10479), RAB3GAP2(25782), MPZ(4359), GJA1(2697), CHRNG(1146), POR(5447), ATP7A(538), KCNJ11(3767), MKKS(8195), SNRPN(6638), UPF3B(65109), RAPSN(5913), NDRG1(10397), FGFR1(2260), FGFR3(2261), OCRL(4952), GDF5(8200), CDKN1B(1027), FGFR2(2263), BBS12(166379), FGF10(2255), SOS1(6654), CYP27B1(1594), HOXA11(3207), CECR(1055), KCNJ2(3759), HOXA13(3209), FGD1(2245), ACVRL1(94), ACVR1(90), GNAS(2778), HPGD(3248), TRIP11(9321), SFTPA2(729238), BBS1(582), BBS2(583), TNNI2(7136), BBS4(585), KCNA1(3736), TNNT3(7140), NIPBL(25836), WNK1(65125), TRPV4(59341), BBS10(79738), ZFPM2(23414), KDM5C(8242), FAM123B(139285), HOXD13(3239), DOK7(285489), CUL7(9820), GNPTG(84572), CTSC(1075), PMP22(5376), SMS(6611), ABCA12(26154), TRIM32(22954), TBX15(6913), SFTPB(6439), CCT5(22948), ARL6(84100), GATA1(2623), ERCC4(2072), TBX3(6926), SGCB(6443), ERCC6(2074), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), ALS2(57679), TREX1(11277), BMP4(652), GALNS(2588), BLM(641), PRX(57716), MKS1(54903), PRKAR1A(5573), MIPOL1(145282), GNPAT(8443), RECQL4(9401), KIAA1279(26128), JAG1(182), BMPR1A(657), BMPR1B(658), GJB6(10804), EXT2(2132), WHCR(7467), WFS1(7466), INSR(3643), EHMT1(79813), WHSC1(7468), GGCX(2677), EXT1(2131), ERCC8(1161), CEP290(80184), ZMPSTE24(10269), PAX3(5077), EYA1(2138), INS(3630), DHCR24(1718), WNT10B(7480), MED12(9968), RMRP(6023), GDF1(2657), DHCR7(1717), DYM(54808), GDAP1(54332), WNT7A(7476), EVC(2121), PHGDH(26227), FRAS1(80144), CLCN5(1184), GCK(2645), CLCF1(23529), PCNT(5116), SHFM1(7979), SOST(50964), FANCA(2175), WISP3(8838), CHST14(113189), TFAP2B(7021), TFAP2A(7020), EIF2AK3(9451), SHOX(6473), ALDH3A2(224), ATP6V0A2(23545), CHST3(9469), LEPRE1(64175), VCP(7415), MYCN(4613), MYOT(9499), GUSB(2990), BBS5(129880), SALL4(57167), MYH3(4621), NSD1(64324), VDR(7421), LMBR1(64327), CAPN3(825), ESCO2(157570), ALX3(257), MYH7(4625), MATN3(4148), STK11(6794), PTCH1(5727), AURKC(6795), RAB7A(7879), SMAD4(4089), IHH(3549), SC5DL(6309), CANT1(124583), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), AIP(9049), LRP5(4041), PTEN(5728), UROS(7390), ABCC8(6833), CREBBP(1387), SIL1(64374), SLC12A6(9990), RAB23(51715), PTH1R(5745), CPT2(1376), ADAMTS2(9509), COMP(1311), LMNA(4000), COL17A1(1308), COL9A3(1299), EVC2(132884), COL9A2(1298), INPP5E(56623), COL11A2(1302), COL11A1(1301), CYP2R1(120227), LMX1B(4010), SLC26A2(1836), COL6A1(1291), NDN(4692), PHF6(84295), COL7A1(1294), DSP(1832), IGF1(3479), COL6A2(1292), TREM2(54209), COL6A3(1293), GPC6(10082), COL2A1(1280), IGF1R(3480), MEN1(4221), CBS(875), COL3A1(1281), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), TBCE(6905), VPS13B(157680), TBX5(6910), TBX1(6899), PORCN(64840), PEX3(8504), LIFR(3977), RUNX2(860), EBP(10682), OFD1(8481), IGHMBP2(3508), BBS7(55212), ALMS1(7840), MOGS(7841), DPAGT1(1798), TYROBP(7305), CHD7(55636), HSD17B10(3028), PEX19(5824), ABCD3(5825), PLOD1(5351), ARSB(411), EP300(2033), PEX2(5828), ARSE(415), TWIST1(7291), LARGE(9215), PEX5(5830), NEFL(4747), RPS6KA3(6197), MGP(4256), FLNA(2316), FLNB(2317), IDS(3423), SOX9(6662), ENG(2022), SLC35D1(23169), ANO5(203859), NKX2-5(1482), LAMB3(3914), PLEKHG5(57449), LAMB1(3912), LAMC2(3918), EMD(2010), LAMA3(3909), LBR(3930), ARX(170302), CTSK(1513), MGAT2(4247), CTDP1(9150), HSPG2(3339), TRPS1(7227), NHS(4810), CD96(10225), NGF(4803), MMP13(4322), CDH3(1001), PTPN11(5781), EGR2(1959), L1CAM(3897), FREM2(341640), ADAMTSL2(9719), ALG3(10195), TP63(8626), KRAS(3845), HYLS1(219844), SEMA3E(9723), EFNB1(1947), SUMF1(285362), SSTR5(6755), MMP2(4313), SLC34A3(142680), AGPAT2(10555), TPM2(7169), SPTLC1(10558)]
ABNORMALITY OF THE URETERS(HP:0000069)	[MKKS(8195), CD96(10225), WFS1(7466), ATRX(546), SALL4(57167), CCBE1(147372), ERCC4(2072), H19(283120), ZMPSTE24(10269), FLNA(2316), EYA1(2138), PAX2(5076), HNF1B(6928), STK11(6794), AURKC(6795), FANCD2(2177), HOXA13(3209), FANCC(2176), NPHP3(27031), FANCE(2178), SALL1(6299), TP63(8626), FANCA(2175), PORCN(64840), B3GALTL(145173), NIPBL(25836), MKS1(54903), HOXD13(3239), APRT(353), RAB23(51715), MNX1(3110), CPT2(1376), ATP7A(538)]
ABNORMALITY OF THE URETHRA(HP:0000795)	[DKC1(1736), WNT3(7473), PLEC(5339), GLI3(2737)]
ABNORMALITY OF THE URINARY TRACT(HP:0000079)	[PLCE1(51196), FKRP(79147), RET(5979), AUH(549), ATRX(546), VPS33B(26276), SACS(26278), CCBE1(147372), HSD17B4(3295), AVPR2(554), H19(283120), ACE(1636), REN(5972), GLI3(2737), FAH(2184), KCNQ1OT1(10984), NPHS1(4868), NPHP1(4867), HRAS(3265), COQ2(27235), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GLB1(2720), GLA(2717), GPC3(2719), DYNC2H1(79659), KIF5A(3798), CRTAP(10491), MRPS22(56945), ATP6V1B1(525), B3GALTL(145173), ROR2(4920), RFX5(5993), FKTN(2218), SLC9A6(10479), RFXAP(5994), SLC12A3(6559), SLC12A1(6557), VANGL1(81839), POR(5447), ATP7B(540), PROKR2(128674), DBH(1621), ATP7A(538), NPHP4(261734), CYP11A1(1583), MKKS(8195), FH(2271), FGFR1(2260), FGFR3(2261), OCRL(4952), BCS1L(617), CDKN1B(1027), FGFR2(2263), FGF23(8074), CDKN1C(1028), BBS12(166379), CDKN2A(1029), FGF10(2255), ATXN10(25814), CECR(1055), SBDS(51119), HOXA13(3209), KCNJ1(3758), CYP21A2(1589), FGA(2243), CYP11B2(1585), DTNBP1(84062), CYP11B1(1584), HPRT1(3251), ADA(100), KAL1(3730), SMCR(6600), BBS1(582), BBS2(583), BBS4(585), HPS1(3257), NIPBL(25836), BBS10(79738), CCND1(595), FAM123B(139285), HOXD13(3239), FASTKD2(22868), OGG1(4968), TP53(7157), AMN(81693), ERBB3(2065), PRNP(5621), TBXAS1(6916), ATL1(51062), EFEMP2(30008), TBX15(6913), TRIM32(22954), HNF1A(6927), ARL6(84100), ERCC4(2072), PRPS1(5631), STRA6(64220), ERCC6(2074), BRCA2(675), PRODH(5625), KIAA0196(9897), BRAF(673), MAP2K1(5604), MAP2K2(5605), BUB1B(701), TMEM67(91147), BLOC1S3(388552), HMBS(3145), HNF1B(6928), CUBN(8029), KL(9365), BTK(695), BMP4(652), PRKCSH(5589), SPG11(80208), XDH(7498), GRHPR(9380), AFP(174), DKC1(1736), GALNT3(2591), WT2(7491), ETFDH(2110), WT1(7490), ETFB(2109), ETFA(2108), MKS1(54903), AGTR1(185), NR0B1(190), SLC22A12(116085), AGXT(189), RECQL4(9401), JAG1(182), AGT(183), HPS6(79803), POMT2(29954), ZFYVE26(23503), WFS1(7466), FLCN(201163), INSL3(3640), ERCC8(1161), CEP290(80184), CYP7B1(9420), ZMPSTE24(10269), MUT(4594), EYA1(2138), PAX2(5076), GPHN(10243), HGD(3081), TRIM37(4591), SLC3A1(6519), DHCR7(1717), DGCR(1714), RXFP2(122042), SLC17A3(10786), AHI1(54806), SLC2A2(6514), SLC5A2(6524), WNT3(7473), HEXB(3074), PRCC(5546), ABCD1(215), CFH(3075), SLC4A1(6521), EVC(2121), SMARCAL1(50485), FRAS1(80144), COQ9(57017), SHH(6469), CLCN5(1184), CLCNKB(1188), C3(718), PCK1(5105), FANCA(2175), ALDOB(229), SI(6476), PCK2(5106), TFAP2A(7020), EIF2AK3(9451), VHL(7428), GATA3(2625), WAS(7454), ALPL(249), C4A(720), APTX(54840), PC(5091), MNX1(3110), CABC1(56997), PGK1(5230), CLDN19(149461), LYZ(4069), BBS5(129880), PGAM2(5224), SALL4(57167), NSD1(64324), HPS5(11234), SLC6A19(340024), RNF139(11236), AMBP(259), ESCO2(157570), IKBKAP(8518), SLC7A7(9056), STK11(6794), MYH9(4627), AURKC(6795), ATXN1(6310), ATXN2(6311), SC5DL(6309), UQCRB(7381), UPK3A(7380), NIPA1(123606), SALL1(6299), TMEM216(51259), PEX10(5192), KIF1B(23095), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), AIP(9049), PTEN(5728), SLC17A5(26503), SEC63(11231), UMPS(7372), RAI1(10743), PTH1R(5745), RAB23(51715), CPT2(1376), UMOD(7369), SLC6A20(54716), LMNB1(4001), NPHS2(7827), SDHD(6392), SDHB(6390), EVC2(132884), INPP5E(56623), NBN(4683), LOX(4015), HBB(3043), LMX1B(4010), PRPS2(5634), PSAP(5660), PDSS2(57107), COL4A6(1288), MEFV(4210), PRTN3(5657), BSND(7809), TREM2(54209), APOA1(335), PDSS1(23590), COL2A1(1280), COL3A1(1281), COL4A4(1286), COL4A5(1287), PEX26(55670), TTC8(123016), COL4A3(1285), LMNB2(84823), TBCE(6905), SLC37A4(2542), ABCC6(368), COX6B1(1340), G6PC(2538), TBP(6908), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), SLC7A9(11136), EBP(10682), AQP2(359), OFD1(8481), PANK2(80025), IGHMBP2(3508), CLDN16(10686), BBS7(55212), APRT(353), ALMS1(7840), SCNN1G(6340), CASP10(843), TYROBP(7305), CASR(846), SCNN1A(6337), CHD7(55636), SCNN1B(6338), PEX19(5824), ARSA(410), ABCD3(5825), PLOD1(5351), SLC4A4(8671), PEX2(5828), DIRC2(84925), LARGE(9215), PEX5(5830), SCARB2(950), SPG7(6687), PYGM(5837), FLNA(2316), FLNB(2317), CIITA(4261), SPAST(6683), CTNS(1497), TTR(7276), SOX9(6662), ATXN3(4287), NF1(4763), UQCRQ(27089), NSDHL(50814), PMM2(5373), NEU1(4758), FN1(2335), POMT1(10585), SLC36A2(153201), LPIN1(23175), LAMB2(3913), PKHD1(5314), IQCB1(9657), TSC1(7248), TSC2(7249), CFI(3426), LCAT(3931), INVS(27130), ASAH1(427), ARX(170302), ADAMTS13(11093), MBTPS2(51360), PLG(5340), PLEC(5339), CD96(10225), HSPD1(3329), CDC73(79577), PTPN11(5781), PINK1(65018), FBLN5(10516), GSN(2934), NPHP3(27031), FREM2(341640), PKD2(5311), MOCS2(4338), PKD1(5310), MOCS1(4337), STAR(6770), CHMP2B(25978), PHEX(5251), NLRP3(114548), TP63(8626), KRAS(3845), RFXANK(8625), HYLS1(219844), SEMA3E(9723), MMACHC(25974), SLC34A3(142680), HPS4(89781), PNP(4860), FXYD2(486), NOTCH3(4854)]
ABNORMALITY OF THE UTERUS(HP:0000130)	[SRY(6736), RET(5979), WHCR(7467), FH(2271), WHSC1(7468), HCCS(3052), RPS6KA3(6197), STRA6(64220), ESCO2(157570), DHCR7(1717), HNF1B(6928), FREM2(341640), COL3A1(1281), WNT7A(7476), CYP11B1(1584), UPK3A(7380), FRAS1(80144), FOXC2(2303), SALL1(6299), LRP2(4036), IRF6(3664), B3GALTL(145173), HYLS1(219844), DCAF17(80067), MKS1(54903), DHH(50846), WNT4(54361), AR(367), MNX1(3110), BMPR1B(658)]
ABNORMALITY OF THE UVEA(HP:0000553)	[FBN1(2200), FKRP(79147), FBN2(2201), SALL4(57167), HPS5(11234), ANCR(282), DCR(1637), EDNRB(1910), IKBKG(8517), CDKL5(6792), SNAI2(6591), SALL1(6299), CRX(1406), NOD2(64127), TMEM216(51259), LYST(1130), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), MYOC(4653), LRP5(4041), B3GALTL(145173), CHML(1122), CHM(1121), FKTN(2218), GJA8(2703), GJA1(2697), AP3B1(8546), CREBBP(1387), HCCS(3052), CYP4V2(285440), ZEB2(9839), INPP5E(56623), MECP2(4204), LMX1B(4010), NDP(4693), RAG2(5897), UROC1(131669), IGBP1(3476), CECR(1055), RAG1(5896), COL4A1(1282), UBE3A(7337), OAT(4942), DTNBP1(84062), PEX26(55670), RBP4(5950), FOXE3(2301), VPS13B(157680), CYP1B1(1545), FOXC1(2296), HPS3(84343), PORCN(64840), HPS1(3257), PEX3(8504), TYR(7299), CRB1(23418), CHD7(55636), PEX19(5824), SLC25A15(10166), EP300(2033), ABCD3(5825), RPGR(6103), PEX2(5828), LARGE(9215), RP2(6102), PEX5(5830), GATA1(2623), ERCC6(2074), SOX10(6663), BLOC1S3(388552), MITF(4286), NF1(4763), POMT1(10585), PAH(5053), LAMB2(3913), MKS1(54903), JAG1(182), HPS6(79803), POMT2(29954), WHCR(7467), PAX6(5080), WHSC1(7468), PAX3(5077), MED12(9968), RS1(6247), TRIM37(4591), TEAD1(7003), PITX2(5308), SHH(6469), ALG3(10195), BEST1(7439), VCAN(1462), TP63(8626), TFAP2A(7020), SEMA3E(9723), HPS4(89781)]
ABNORMALITY OF THE UVULA(HP:0000172)	[FOXC2(2303), BMP4(652), TBCE(6905), ALG3(10195), SIX3(6496), HYAL1(3373), BCOR(54880), TBX1(6899), TP63(8626), TGFBR1(7046), IRF6(3664), FGFR2(2263), COL11A1(1301), B4GALT7(11285), EYA1(2138), DGCR(1714), FAM123B(139285), RECQL4(9401), SMS(6611)]
ABNORMALITY OF THE VAGINA(HP:0000142)	[RET(5979), MKKS(8195), BBS5(129880), TRIM32(22954), FGFR1(2260), SALL4(57167), ARL6(84100), FGFR2(2263), CEP290(80184), BBS12(166379), PAX3(5077), DHCR7(1717), HOXA13(3209), WNT3(7473), FREM2(341640), UBR1(197131), BBS9(27241), TTC8(123016), CYP11B1(1584), UPK3A(7380), FRAS1(80144), SALL1(6299), BBS1(582), BCOR(54880), BBS2(583), TP63(8626), IRF6(3664), BBS4(585), HYLS1(219844), BBS10(79738), MKS1(54903), BBS7(55212), POR(5447), WNT4(54361), RECQL4(9401), MNX1(3110)]
ABNORMALITY OF THE VASCULATURE(HP:0002597)	[FBN1(2200), FBN2(2201), RET(5979), TGFBR1(7046), GLI3(2737), MYH11(4629), MYH9(4627), SMAD4(4089), HRG(3273), SMAD9(4093), GLB1(2720), GLA(2717), PPARG(5468), SLC2A10(81031), KIF1B(23095), CRTAP(10491), GJA5(2702), GJA1(2697), KCNQ1(3784), ATP7A(538), SERPIND1(3053), ENPP1(5167), LMNA(4000), APOB(338), HCCS(3052), ZEB2(9839), SDHD(6392), APOA2(336), APP(351), SDHB(6390), LOX(4015), APOE(348), FGFR2(2263), FGF23(8074), PDGFRA(5156), COL5A2(1290), COL5A1(1289), LPL(4023), PRTN3(5657), CECR(1055), CYP27A1(1593), GPC6(10082), COL4A1(1282), APOA1(335), ACVRL1(94), CBS(875), COL3A1(1281), FOXC2(2303), SLC37A4(2542), ABCC6(368), FOXF1(2294), TBX1(6899), LIFR(3977), JAK2(3717), LIPC(3990), LIPA(3988), GAA(2548), LDLR(3949), EFEMP2(30008), MGP(4256), STRA6(64220), PROC(5624), PROS1(5627), FLNA(2316), FLNB(2317), TTR(7276), NF1(4763), TREX1(11277), KL(9365), ENG(2022), ELN(2006), ABCG8(64241), ABCG5(64240), TSPYL1(7259), GALNT3(2591), PLAT(5327), CFI(3426), MKS1(54903), DOCK8(81704), AGXT(189), COL1A2(1278), CRELD1(78987), COL1A1(1277), JAG1(182), BMPR2(659), MED12(9968), MPI(4351), DHCR24(1718), HGD(3081), SERPINC1(462), DHCR7(1717), DGCR(1714), FBLN5(10516), PRPF3(9129), SLC17A3(10786), WNT3(7473), CFH(3075), PKD2(5311), PKD1(5310), SMARCAL1(50485), BEST1(7439), MMACHC(25974), VHL(7428), PPP1R3A(5506), WAS(7454), GBA(2629), PNP(4860), C4A(720), NOTCH3(4854)]
ABNORMALITY OF THE VASCULATURE OF THE CONJUNCTIVA(HP:0008054)	[ATM(472), ENG(2022), SETX(23064), CTSA(5476), FUCA1(2517), ACVRL1(94), MANBA(4126)]
ABNORMALITY OF THE VASCULATURE OF THE EYE(HP:0008047)	[BEST1(7439), PTGS1(5742), ABCC6(368), ATM(472), SETX(23064), KRIT1(889), FZD4(8322), LRP5(4041), IKBKG(8517), PRPF3(9129), TREX1(11277), ENG(2022), COL4A1(1282), CTSA(5476), FUCA1(2517), ACVRL1(94), MANBA(4126)]
ABNORMALITY OF THE VENTRICULAR SEPTUM(HP:0010438)	[ERBB3(2065), FBN1(2200), PEX19(5824), EP300(2033), FBN2(2201), PEX5(5830), CCBE1(147372), SALL4(57167), NSD1(64324), MGP(4256), STRA6(64220), GLI3(2737), FLNB(2317), ESCO2(157570), SOX2(6657), HRAS(3265), ZIC3(7547), UBR1(197131), GLA(2717), SALL1(6299), GPC3(2719), PEX10(5192), PEX14(5195), LRP2(4036), BCOR(54880), PEX13(5194), PEX1(5189), LRP5(4041), B3GALTL(145173), ROR2(4920), LBR(3930), GJA1(2697), CREBBP(1387), CRELD1(78987), RAB23(51715), JAG1(182), MGAT2(4247), WHCR(7467), CD96(10225), WHSC1(7468), HCCS(3052), ZEB2(9839), FGFR2(2263), MED12(9968), PTPN11(5781), DHCR7(1717), SOS1(6654), DGCR(1714), GPC6(10082), PQBP1(10084), PEX26(55670), FOXC2(2303), TBX5(6910), TBX1(6899), TP63(8626), HYLS1(219844), PEX3(8504), NODAL(4838), NIPBL(25836), HOXD13(3239), FAM123B(139285)]
ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925)	[SH3TC2(79628), FBN1(2200), RET(5979), FBN2(2201), FKRP(79147), ATRX(546), NPR2(4882), ATR(545), CCBE1(147372), TGFBR1(7046), TGFB1(7040), GLI3(2737), DCR(1637), SLC16A2(6567), GLE1(2733), NOG(9241), HRAS(3265), ADAMTS10(81794), CRLF1(9244), PPIB(5479), GNPTAB(79158), GLB1(2720), SBF2(81846), CHRNA1(1134), COLQ(8292), ACADS(35), GPC3(2719), KIF5A(3798), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), DDR2(4921), RAB3GAP2(25782), MPZ(4359), GJA1(2697), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), VANGL1(81839), ACTA1(58), TNFRSF11A(8792), ATP7A(538), ACTB(60), SNRPN(6638), UPF3B(65109), RAPSN(5913), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), SOS1(6654), GNS(2799), HSPB8(26353), SBDS(51119), FGD1(2245), KCNJ2(3759), GDF6(392255), ACVR1(90), FOXC2(2303), ADA(100), GNAS(2778), TRIP11(9321), SMCR(6600), TNNI2(7136), TNNT3(7140), NIPBL(25836), TRPV4(59341), HOXD13(3239), FAM123B(139285), DOK7(285489), CUL7(9820), GNPTG(84572), PMP22(5376), SMS(6611), ATL1(51062), TBX15(6913), GATA1(2623), ERCC4(2072), SGCB(6443), ROBO3(64221), SGCA(6442), ERCC6(2074), SGCG(6445), GARS(2617), SGSH(6448), BUB1B(701), FAM126A(84668), ALS2(57679), TCIRG1(10312), BMP4(652), PRKCSH(5589), AGA(175), AFP(174), GALNS(2588), MTMR2(8898), FGD4(121512), PRX(57716), MKS1(54903), PRKAR1A(5573), GNPAT(8443), COL1A2(1278), RECQL4(9401), ZNF469(84627), ACAN(176), COL1A1(1277), KIAA1279(26128), DMD(1756), JAG1(182), RAB3GAP1(22930), GAD1(2571), WHCR(7467), SQSTM1(8878), WHSC1(7468), SIX3(6496), ERCC8(1161), PAX3(5077), ZMPSTE24(10269), MED12(9968), RMRP(6023), HGD(3081), DGCR(1714), DYM(54808), SH3PXD2B(285590), GDAP1(54332), SMARCAL1(50485), CLCN7(1186), HGSNAT(138050), MFN2(9927), CLCF1(23529), SOST(50964), WISP3(8838), TFAP2A(7020), ALDOA(226), EIF2AK3(9451), SHOX(6473), ALDH3A2(224), ATP6V0A2(23545), GBA(2629), GORAB(92344), ALPL(249), CHST3(9469), APTX(54840), MNX1(3110), LEPRE1(64175), VCP(7415), BIN1(274), GUSB(2990), SETX(23064), SALL4(57167), MYH3(4621), NSD1(64324), ANCR(282), MAPT(4137), IKBKG(8517), ESCO2(157570), IKBKAP(8518), PDE11A(50940), CDKL5(6792), MATN3(4148), PAPSS2(9060), AURKC(6795), PTCH1(5727), GNE(10020), IHH(3549), SC5DL(6309), CANT1(124583), SEPN1(57190), AIP(9049), PEX7(5191), LRP5(4041), PTEN(5728), UROS(7390), UPB1(51733), SEC63(11231), CREBBP(1387), SIL1(64374), RAI1(10743), SLC12A6(9990), PTH1R(5745), RAB23(51715), NAGLU(4669), MAN2B1(4125), TOR1A(1861), TRAPPC2(6399), COMP(1311), ENPP1(5167), LMNA(4000), COL9A1(1297), MECP2(4204), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), COL6A1(1291), CUL4B(8450), NDN(4692), PHF6(84295), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), COL2A1(1280), FUCA1(2517), UBE3A(7337), CBS(875), PQBP1(10084), NEB(4703), ANKH(56172), VPS13B(157680), UBA1(7317), ABCC6(368), TBX5(6910), TBX1(6899), PORCN(64840), LIFR(3977), RUNX2(860), EBP(10682), DLL3(10683), OFD1(8481), ALMS1(7840), MOGS(7841), CHD7(55636), HSD17B10(3028), ARSB(411), PLOD1(5351), EP300(2033), ARSE(415), RPS6KA3(6197), SPG7(6687), FLNA(2316), PLOD2(5352), SPAST(6683), FLNB(2317), IDS(3423), SOX9(6662), SOX2(6657), NF1(4763), NSDHL(50814), SLC35D1(23169), PMM2(5373), POMT1(10585), FMR1(2332), PLEKHG5(57449), NF2(4771), LAMA2(3908), LBR(3930), ARX(170302), MBTPS2(51360), CTSK(1513), MGAT2(4247), CTDP1(9150), HSPG2(3339), TRPS1(7227), RYR1(6261), CD96(10225), MMP13(4322), PTPN11(5781), EGR2(1959), L1CAM(3897), FXN(2395), PHEX(5251), STAT3(6774), SEMA3E(9723), EFNB1(1947), MMP2(4313), TPM2(7169)]
ABNORMALITY OF THE VERTEBRAL ENDPLATES(HP:0005106)	[TRAPPC2(6399), COMP(1311), PAPSS2(9060), GNPAT(8443), SOST(50964), WISP3(8838), CHST3(9469), COL2A1(1280), COL9A1(1297), MMP13(4322), EIF2AK3(9451)]
ABNORMALITY OF THE VERTEBRAL SPINOUS PROCESSES(HP:0008516)	[LBR(3930)]
ABNORMALITY OF THE VIIITH CRANIAL NERVE(HP:0009591)	[NF2(4771)]
ABNORMALITY OF THE VITREOUS HUMOR(HP:0004327)	[ERBB3(2065), TTR(7276), BEST1(7439), NDP(4693), BCOR(54880), RB1(5925), FZD4(8322), LRP5(4041)]
ABNORMALITY OF THE VOCAL CORDS(HP:0008777)	[TRPV4(59341), MYCN(4613), MFN2(9927), SDHD(6392), SDHC(6391), GDAP1(54332), MATR3(9782), DCTN1(1639), SDHAF2(54949)]
ABNORMALITY OF THE VOICE(HP:0001608)	[CHAT(1103), SLC19A2(10560), MYH3(4621), NSD1(64324), ANCR(282), MAPT(4137), MGP(4256), DCTN1(1639), FLNA(2316), CTNS(1497), IDS(3423), EDA(1896), CDKL5(6792), HRAS(3265), CRLF1(9244), MATR3(9782), ECM1(1893), GNPTAB(79158), CHRNA1(1134), COLQ(8292), SEPN1(57190), AGA(175), TSPYL1(7259), TSHB(7252), SRD5A2(6716), BLM(641), LAMA3(3909), ASAH1(427), CHRNE(1145), CHRND(1144), ACTA1(58), RAI1(10743), CHRNB1(1140), DBH(1621), GHR(2690), HSPG2(3339), TRPS1(7227), SNRPN(6638), UCHL1(7345), UPF3B(65109), SDHD(6392), RAPSN(5913), SDHC(6391), MECP2(4204), KRT17(3872), POLG(5428), MUSK(4593), MED12(9968), SLC26A2(1836), CUL4B(8450), TRIM37(4591), NDN(4692), DGCR(1714), LEMD3(23592), GDAP1(54332), TRH(7200), UBE3A(7337), SMARCAL1(50485), KRT6B(3854), ADAMTSL2(9719), PCNT(5116), SMCR(6600), TBP(6908), TBX1(6899), NIPBL(25836), TFAP2A(7020), LIFR(3977), SDHAF2(54949), TRPV4(59341), PANK2(80025), IGHMBP2(3508), ALPL(249), AR(367), SMS(6611), PAX8(7849)]
ABNORMALITY OF THE WRIST(HP:0003019)	[HSPG2(3339), ADAMTSL2(9719), CLCN5(1184), COMP(1311), TBX15(6913), SALL4(57167), MYH3(4621), TNNI2(7136), GALNS(2588), OCRL(4952), VDR(7421), TNNT3(7140), CYP2R1(120227), FLNA(2316), SHOX(6473), ESCO2(157570), MMP2(4313), CYP27B1(1594), SLC34A3(142680), TPM2(7169), GLB1(2720)]
ABNORMALITY OF THE ZYGOMATIC ARCH(HP:0005557)	[FBN1(2200), PEX19(5824), ABCD3(5825), FKRP(79147), ATRX(546), PEX2(5828), TWIST1(7291), PEX5(5830), MYH3(4621), CCBE1(147372), GATA1(2623), TGFBR1(7046), MGP(4256), FLNA(2316), FLNB(2317), DCR(1637), BUB1B(701), NF1(4763), SLC35D1(23169), DNMT3B(1789), CANT1(124583), TCOF1(6949), BMP4(652), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), SEC23A(10484), PEX7(5191), BLM(641), ROR2(4920), DDR2(4921), SLC6A8(6535), LBR(3930), GJA1(2697), COL1A2(1278), POR(5447), AGL(178), RAI1(10743), PTH1R(5745), RAB23(51715), COL1A1(1277), MAN2B1(4125), HSPG2(3339), EHMT1(79813), LMNA(4000), FGFR1(2260), FGFR3(2261), FGFR2(2263), MECP2(4204), COL11A2(1302), PAX3(5077), COL11A1(1301), SLC26A2(1836), GPC6(10082), KCNJ2(3759), COL2A1(1280), PQBP1(10084), PEX26(55670), SHH(6469), POMGNT1(55624), SMCR(6600), SOST(50964), TP63(8626), PEX3(8504), TFAP2A(7020), LIFR(3977), RUNX2(860), EBP(10682), GORAB(92344), PVRL1(5818)]
ABNORMALITY OF THROMBOCYTES(HP:0001872)	[TBXAS1(6916), CD40LG(959), MMAA(166785), TINF2(26277), SH2D1A(4068), ATR(545), GATA1(2623), SALL4(57167), CD36(948), PROS1(5627), ITGB3(3690), FOXP3(50943), SLC7A7(9056), THPO(7066), MYH9(4627), TREX1(11277), FANCD2(2177), FANCC(2176), HLCS(3141), PMM2(5373), FANCE(2178), HRG(3273), SMAD9(4093), TCIRG1(10312), ITGA2(3673), GALC(2581), TCN2(6948), ITGA2B(3674), LYST(1130), ABCG8(64241), ABCG5(64240), DKC1(1736), PSTPIP1(9051), PLAT(5327), UROS(7390), C10orf2(56652), LBR(3930), MPL(4352), GJA5(2702), ADAMTS13(11093), ELANE(1991), AP3B1(8546), MPV17(4358), KCNQ1(3784), BMPR2(659), TNFSF11(8600), GP1BA(2811), WFS1(7466), GP9(2815), GP1BB(2812), ACAD9(28976), NDRG1(10397), NHP2(55651), MVK(4598), APOE(348), LMBRD1(55788), MUT(4594), MPI(4351), PTPN11(5781), DGUOK(1716), HOXA11(3207), RAG2(5897), SBDS(51119), RAG1(5896), CFH(3075), CBS(875), COL4A5(1287), PHGDH(26227), NOP10(55505), SMARCAL1(50485), ADA(100), MMAB(326625), TERC(7012), TERT(7015), DCLRE1C(64421), FANCA(2175), MMACHC(25974), NIPBL(25836), RUNX1(861), VHL(7428), PCCB(5096), VWF(7450), JAK2(3717), FCGR2C(9103), WAS(7454), GBA(2629), IVD(3712), FAS(355), PNP(4860), CASP10(843), MASTL(84930), SLC35A1(10559), PCCA(5095)]
ABNORMALITY OF THYROID LABORATORY RESULTS(HP:0002926)	[SMARCAL1(50485), IYD(389434), THRB(7068), NKX2-1(7080), TSHR(7253), SLC5A5(6528), DCAF17(80067), PAX8(7849)]
ABNORMALITY OF TIBIAL EPIPHYSES(HP:0006508)	[COL11A1(1301)]
ABNORMALITY OF UPPER LIP(HP:0000177)	[FKRP(79147), AVP(551), TGIF1(7050), MYH3(4621), CCBE1(147372), NSD1(64324), HSD17B4(3295), GLI3(2737), ESCO2(157570), NOG(9241), ALX3(257), CRLF1(9244), PTCH1(5727), RPGRIP1L(23322), GNE(10020), GNPTAB(79158), SC5DL(6309), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), ABCC8(6833), FKTN(2218), RAB3GAP2(25782), GJA1(2697), AP3B1(8546), CHRNG(1146), PROKR2(128674), ATP7A(538), ACTB(60), KCNJ11(3767), SNRPN(6638), PDHA1(5160), RAPSN(5913), FGFR1(2260), NBN(4683), FGFR2(2263), COL11A1(1301), LMX1B(4010), NDN(4692), FGD1(2245), GPC6(10082), KCNJ2(3759), IGF1R(3480), PQBP1(10084), FOXC2(2303), TBCE(6905), VPS13B(157680), OPHN1(4983), TNNI2(7136), TBX1(6899), PORCN(64840), TNNT3(7140), NIPBL(25836), OFD1(8481), KDM5C(8242), FAM123B(139285), DOK7(285489), CUL7(9820), CHD7(55636), LARGE(9215), MGP(4256), ERCC6(2074), BRAF(673), FLNB(2317), MAP2K1(5604), MAP2K2(5605), MID1(4281), BUB1B(701), PMM2(5373), POMT1(10585), BMP4(652), BCOR(54880), IRF6(3664), MKS1(54903), MSX2(4488), KIAA1279(26128), POMT2(29954), TRPS1(7227), WHCR(7467), CD96(10225), SIX3(6496), WHSC1(7468), ATIC(471), LMBRD1(55788), PAX3(5077), INS(3630), MED12(9968), DHCR7(1717), DGCR(1714), WNT3(7473), FREM2(341640), PAK3(5063), PITX2(5308), FRAS1(80144), ADAMTSL2(9719), SHH(6469), GCK(2645), TP63(8626), KRAS(3845), HYLS1(219844), TFAP2B(7021), EFNB1(1947), TFAP2A(7020), MMACHC(25974), SEMA3E(9723), PCCB(5096), TPM2(7169), PVRL1(5818), PCCA(5095)]
ABNORMALITY OF VISION(HP:0000504)	[FBN1(2200), DDB2(1643), FKRP(79147), MERTK(10461), CLN6(54982), HSD17B4(3295), TGFBI(7045), DPM1(8813), TGFB1(7040), PRPH2(5961), ABCA1(19), COQ2(27235), ADAMTS10(81794), RDH5(5959), SPATA7(55812), OPN1LW(5956), RHO(6010), GRK1(6011), LYST(1130), GJB2(2706), CHM(1121), C20orf7(79133), NPHP4(261734), FH(2271), OCA2(4948), CYP4V2(285440), RAPSN(5913), OCRL(4952), FGFR2(2263), POLG(5428), POLH(5429), FGF14(2259), COL18A1(80781), AAAS(8086), GPR143(4935), TUBB3(10381), POLA1(5422), OAT(4942), DTNBP1(84062), OPA1(4976), FOXC2(2303), RBP4(5950), GNAS(2778), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), GM2A(2760), PRNP(5621), BTD(686), PLA2G6(8398), SLC25A22(79751), RPGR(6103), ERCC2(2068), RP2(6102), RP1(6101), RP9(6100), PRPS1(5631), ERCC6(2074), BLOC1S3(388552), SH3BP2(6452), CLN8(2055), TREX1(11277), TCIRG1(10312), GALC(2581), TCOF1(6949), MFSD8(256471), BCOR(54880), CNGA3(1261), CNGB1(1258), RPE65(6121), XPC(7508), ZNF469(84627), OPA3(80207), XPA(7507), HPS6(79803), ZFYVE26(23503), GJB6(10804), PAX6(5080), ST3GAL5(8869), FZD4(8322), CEP290(80184), EIF2B2(8892), EIF2B5(8893), CA2(760), PPT1(5538), DGCR(1714), AHI1(54806), EIF2B4(8890), RLBP1(6017), EIF2B3(8891), HEXA(3073), CFH(3075), ABCD1(215), EPM2A(7957), FRAS1(80144), COQ9(57017), SHH(6469), IMPDH1(3614), FRMD7(90167), MFN2(9927), BEST1(7439), PROM1(8842), SOST(50964), TIMM8A(1678), OPN1MW(2652), ALDH3A2(224), CLN5(1203), TPP1(1200), CLN3(1201), APTX(54840), CABC1(56997), PITPNM3(83394), PGK1(5230), TACSTD2(4070), SCN1A(6323), HPS5(11234), MAPT(4137), EDNRA(1909), GUCA1A(2978), ATXN7(6314), USH2A(7399), GUCY2D(3000), ELOVL4(6785), CLRN1(7401), MYO7A(4647), CRX(1406), TMEM216(51259), LRP2(4036), LRP5(4041), PTEN(5728), MCOLN1(57192), SAG(6295), NR2E3(10002), CACNA1A(773), AP3B1(8546), CNNM4(26504), NAGA(4668), CACNA1F(778), CNGB3(54714), C1QTNF5(114902), NYX(60506), INPP5E(56623), PDE6B(5158), NHLRC1(378884), PDSS2(57107), PHF6(84295), NDP(4693), NDUFA1(4694), IGBP1(3476), COL4A1(1282), PDSS1(23590), COL2A1(1280), PQBP1(10084), POMGNT1(55624), CHST6(4166), VPS13B(157680), ABCC6(368), HPS3(84343), TBX1(6899), NDUFS1(4719), NDUFV1(4723), NDUFS2(4720), TYR(7299), NDUFS6(4726), ALMS1(7840), NDUFS4(4724), PLOD1(5351), PHOX2A(401), NDUFAF2(91942), CTNS(1497), TTR(7276), ATXN3(4287), MITF(4286), NEU1(4758), ASPA(443), LAMB2(3913), PRPF8(10594), NDUFAF3(25915), TSC1(7248), CTSD(1509), MBTPS2(51360), PLG(5340), LAMP2(3920), ATP1A2(477), GRM6(2916), ATIC(471), RS1(6247), CDH3(1001), PRPF3(9129), EIF2B1(1967), FREM2(341640), ST14(6768), ALG3(10195), VCAN(1462), TP63(8626), MMACHC(25974), HPS4(89781), NOTCH3(4854)]
ABNORMALITY OF VISION EVOKED POTENTIALS(HP:0000649)	[OPA1(4976), GALC(2581), AAAS(8086), PLA2G6(8398), FKRP(79147), SLC25A22(79751), POMGNT1(55624), MFN2(9927), POLG(5428), NOTCH3(4854)]
ABNORMALITY OF VITAMIN B12 METABOLISM(HP:0004341)	[MMAB(326625), MMADHC(27249), MMAA(166785), MTRR(4552), MCEE(84693), MTR(4548), LMBRD1(55788), MMACHC(25974), MUT(4594)]
ABNORMALLY FOLDED HELIX(HP:0008544)	[MED12(9968)]
ABNORMALLY LAX OR HYPEREXTENSIBLE SKIN(HP:0008067)	[PEX19(5824), FBN1(2200), PLOD1(5351), CD96(10225), NPR2(4882), PEX5(5830), EFEMP2(30008), RPS6KA3(6197), NSD1(64324), FGFR3(2261), LOX(4015), FGFR2(2263), MED12(9968), FGF10(2255), SLC7A7(9056), COL5A1(1289), HRAS(3265), FBLN5(10516), GSN(2934), COL3A1(1281), PEX26(55670), LAMB1(3912), ELN(2006), SLC2A10(81031), OSMR(9180), TNXB(7148), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), ATP6V0A2(23545), GORAB(92344), COL1A2(1278), ZNF469(84627), COL1A1(1277), ATP7A(538), ADAMTS2(9509)]
ABNORMALLY POINTED UPPER LATERAL INCISORS(HP:0006345)	[B3GALTL(145173)]
ABNORMALLY PROMINENT LINE OF SCHWALBE(HP:0007873)	[PTEN(5728), PITX2(5308)]
ABNORMALLY SHAPED CARPAL BONES(HP:0006014)	[GPC3(2719), COMP(1311), NSD1(64324), GDF5(8200), FGFR2(2263), EIF2AK3(9451)]
ABOLISHED ELECTRORETINOGRAM (ERG)(HP:0000550)	[MYO7A(4647), RBP4(5950), TPP1(1200), CLN3(1201), HSD17B4(3295), NR2E3(10002)]
ABORMALITY OF PHENYLALANINE AND TYROSINE METABOLISM(HP:0004338)	[PAH(5053), FAH(2184), GCH1(2643), HPD(3242), PCBD1(5092)]
ABSCESS FORMATION IN ANY ORGAN(HP:0002722)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
ABSENCE OF ACOUSTIC MIDDLE EAR MUSCLE REFLEXES(HP:0008595)	[OTOF(9381)]
ABSENCE OF BACTERICIDAL OXIDATIVE 'RESPIRATORY BURST' IN PHAGOCYTES(HP:0002723)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
ABSENCE OF CORTICOMEDULLARY DIFFERENTIATION(HP:0005564)	[INVS(27130), PKHD1(5314)]
ABSENCE OF INCISORS(HP:0006485)	[B3GALTL(145173), BLM(641)]
ABSENCE OF INTRINSIC FACTOR BY IMMUNOASSAY OF GASTRIC JUICES(HP:0005219)	[GIF(2694)]
ABSENCE OF LABIA MAJORA(HP:0008729)	[CHRNG(1146)]
ABSENCE OF PECTORALIS MINOR MUSCLE(HP:0005255)	[LMX1B(4010)]
ABSENCE OF PERMANENT TEETH(HP:0006349)	[OFD1(8481), RECQL4(9401), LRP5(4041), RAB23(51715), UBR1(197131), MSX1(4487)]
ABSENCE OF PUBERTAL DEVELOPMENT(HP:0008197)	[NR0B1(190)]
ABSENCE OF RADIUS AND ULNA(HP:0005012)	[ESCO2(157570)]
ABSENCE OF SECONDARY SEX CHARACTERISTICS(HP:0008187)	[GNRH1(2796)]
ABSENCE OF SPONTANEOUS RESPIRATION(HP:0005958)	[NEB(4703)]
ABSENCE OF STENSEN DUCT(HP:0000198)	[FGF10(2255), TP63(8626), FGFR3(2261)]
ABSENCE OF SUBCUTANEOUS FAT(HP:0007485)	[LMNA(4000)]
ABSENCE SEIZURES(HP:0002121)	[GABRG2(2566), CSTB(1476), SCN1A(6323), ALDH5A1(7915), EPM2A(7957), NHLRC1(378884)]
ABSENT ANKLE REFLEXES(HP:0003438)	[MYOT(9499), ATXN3(4287), DYSF(8291), SACS(26278)]
ABSENT ANTERIOR EYE CHAMBER(HP:0008037)	[LRP5(4041)]
ABSENT AXILLARY HAIR(HP:0002221)	[GJB6(10804), APOE(348), AR(367)]
ABSENT B CELLS(HP:0002856)	[ADA(100), RAG2(5897), DCLRE1C(64421), RAG1(5896)]
ABSENT BRAINSTEM AUDITORY RESPONSES(HP:0004463)	[SOX10(6663), OTOF(9381)]
ABSENT CARPAL BONES/ABSENT OSSIFICATION OF THE CARPAL BONES(HP:0004231)	[RECQL4(9401), LMBR1(64327)]
ABSENT CARPALS, METACARPALS, AND PHALANGES(HP:0005056)	[RECQL4(9401)]
ABSENT CELLULAR IMMUNITY(HP:0005354)	[AK2(204)]
ABSENT CONE AND ROD FUNCTIONS BY ELECTRORETINOGRAM(HP:0008280)	[IMPDH1(3614), RP1(6101), RP9(6100)]
ABSENT DEEP TENDON REFLEXES(HP:0001314)	[PRNP(5621), GAA(2548), JAG1(182), ATXN1(6310), LIFR(3977), C10orf2(56652)]
ABSENT DISTAL PHALANGES(HP:0005807)	[NOG(9241)]
ABSENT EXTERNAL GENITALIA(HP:0000042)	[WNT3(7473)]
ABSENT EYEBROWS(HP:0002223)	[MAP2K1(5604), EDA(1896), MAP2K2(5605), FRAS1(80144), SAT1(6303), SOX18(54345), KRAS(3845), FREM2(341640), BRAF(673)]
ABSENT EYEBROWS AND EYELASHES(HP:0002288)	[MAP2K1(5604), MAP2K2(5605), FRAS1(80144), SAT1(6303), SOX18(54345), KRAS(3845), FREM2(341640), BRAF(673)]
ABSENT EYELASHES(HP:0000561)	[MAP2K1(5604), MAP2K2(5605), FRAS1(80144), SAT1(6303), SOX18(54345), KRAS(3845), FREM2(341640), BRAF(673)]
ABSENT FACIAL HAIR(HP:0002550)	[AR(367)]
ABSENT FINGERNAILS(HP:0001817)	[PORCN(64840)]
ABSENT FOREARM(HP:0005632)	[LMBR1(64327)]
ABSENT FRONTAL SINUSES(HP:0002688)	[TRIM37(4591), ATRX(546), DNAI1(27019), CTSK(1513), COL11A1(1301), FLNA(2316), RUNX2(860)]
ABSENT HAIR(HP:0002298)	[WNT10A(80326)]
ABSENT HANDS(HP:0004050)	[LMBR1(64327)]
ABSENT LACRIMAL PUNCTA(HP:0001092)	[FGF10(2255), TP63(8626), FGFR3(2261), UBR1(197131)]
ABSENT MICROVILLI ON THE SURFACE OF PERIPHERAL BLOOD LYMPHOCYTES(HP:0002971)	[WAS(7454)]
ABSENT NASAL SEPTAL CARTILAGE(HP:0005273)	[TGIF1(7050), SIX3(6496)]
ABSENT NIPPLES(HP:0002561)	[TP63(8626)]
ABSENT OF SMALL FRONTAL SINUS(HP:0005475)	[TRIM37(4591)]
ABSENT OR HYPOPLASTIC RADII(HP:0004989)	[RECQL4(9401)]
ABSENT OR MALFORMED LACRIMAL DUCTS(HP:0007993)	[FRAS1(80144), FREM2(341640)]
ABSENT OR MINIMALLY OSSIFIED VERTEBRAL BODIES(HP:0004599)	[SLC26A2(1836), LBR(3930), TRIP11(9321), ALPL(249), COL2A1(1280)]
ABSENT OR RUDIMENTARY FALLOPIAN TUBES(HP:0008655)	[WNT4(54361)]
ABSENT OR SCANTY EYELASHES AND EYEBROWS(HP:0004555)	[EDA(1896), GJB2(2706)]
ABSENT OR SEVERELY REDUCED LEVELS OF SERUM IMMUNOGLOBULINS(HP:0008328)	[BTK(695)]
ABSENT OR SMALL DYSPLASTIC THYMUS(HP:0005359)	[ADA(100)]
ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974)	[SALL4(57167), FANCA(2175), FGFR3(2261), LMBR1(64327), FLNB(2317), ESCO2(157570), FGF10(2255), HOXD13(3239), MIPOL1(145282), CECR(1055), FANCD2(2177), FANCC(2176), FANCE(2178)]
ABSENT OSSIFICATION/ABSENT FOREARM BONES(HP:0003953)	[SALL4(57167), FANCA(2175), FGFR3(2261), LMBR1(64327), FLNB(2317), ESCO2(157570), FGF10(2255), HOXD13(3239), MIPOL1(145282), CECR(1055), FANCD2(2177), FANCC(2176), FANCE(2178), WNT7A(7476)]
ABSENT OSSIFICATION/ABSENT ULNA(HP:0003982)	[LMBR1(64327), WNT7A(7476)]
ABSENT PARANASAL SINUSES(HP:0002689)	[RUNX2(860)]
ABSENT PATELLAR REFLEXES(HP:0006844)	[LIFR(3977)]
ABSENT PERIPHERAL BLOOD B CELLS(HP:0005365)	[RAG2(5897), RAG1(5896)]
ABSENT PERIPHERAL BLOOD T CELLS(HP:0005379)	[RAG2(5897), RAG1(5896)]
ABSENT PIGMENTATION OF VENTRAL CHEST, ABDOMEN AND LIMBS(HP:0007542)	[SNAI2(6591)]
ABSENT PRIMARY METAPHYSEAL SPONGIOSA(HP:0003332)	[TRPV4(59341)]
ABSENT PROXIMAL FINGER FLEXION CREASES(HP:0006077)	[TBX15(6913)]
ABSENT PUBIC AND AXILLARY HAIR(HP:0004556)	[AR(367)]
ABSENT PUBIC HAIR(HP:0002555)	[GJB6(10804), AR(367)]
ABSENT PUBIC OSSIFICATION IN INFANCY(HP:0008827)	[COL2A1(1280)]
ABSENT PULMONARY ARTERY(HP:0004960)	[CRTAP(10491)]
ABSENT ROD-AND CONE-MEDIATED RESPONSES ON ERG(HP:0007688)	[NR2E3(10002)]
ABSENT SEPTUM PELLUCIDUM(HP:0001331)	[WHCR(7467), L1CAM(3897), WHSC1(7468), DOK7(285489), HCCS(3052), HESX1(8820), RAPSN(5913), NSD1(64324), FGFR2(2263), HYLS1(219844)]
ABSENT SPECIFIC ANTIBODY RESPONSE(HP:0005424)	[ADA(100)]
ABSENT SPEECH(HP:0001617)	[CDKL5(6792), ANCR(282), MECP2(4204), UBE3A(7337)]
ABSENT SPEECH DEVELOPMENT(HP:0001344)	[ST3GAL5(8869), PRPS1(5631), PRPS2(5634)]
ABSENT STERNAL MINERALIZATION(HP:0006654)	[SOX9(6662)]
ABSENT STYLOID PROCESSES(HP:0005068)	[COL2A1(1280)]
ABSENT TALUS AND CALCANEAL OSSIFICATION IN INFANCY(HP:0008142)	[COL2A1(1280)]
ABSENT TOENAILS(HP:0001802)	[LBR(3930), PORCN(64840)]
ABSENT UPPER LATERAL INCISORS(HP:0000690)	[B3GALTL(145173), BLM(641)]
ABSENT URINARY UROTHIONE(HP:0003606)	[GPHN(10243), MOCS2(4338), MOCS1(4337)]
ABSENT UTERUS(HP:0000151)	[WHCR(7467), WHSC1(7468), WNT4(54361), AR(367), WNT7A(7476)]
ABSENT VAGINA(HP:0003250)	[WNT4(54361), PAX3(5077)]
ABSENT VERTEBRAL BODY MINERALIZATION(HP:0004605)	[COL2A1(1280)]
ABSENT VESTIBULAR FUNCTION(HP:0008555)	[MYO7A(4647)]
ABSENT-HYPOPLASTIC ULNAE(HP:0006410)	[FLNB(2317)]
ABSENT-SMALL CAPITAL FEMORAL EPIPHYSES(HP:0005003)	[COL11A2(1302)]
ABSENT/HYPOPLASTIC COCCYX(HP:0008436)	[FUCA1(2517)]
ABSENT/HYPOPLASTIC PARANASAL SINUSES(HP:0005453)	[FUCA1(2517)]
ABSENT/HYPOPLASTIC TEETH(HP:0000688)	[RPS6KA3(6197), ERCC8(1161), ERCC6(2074)]
ABSENT/HYPOPLASTIC UTERUS(HP:0008684)	[SRY(6736), WHCR(7467), HCCS(3052), WHSC1(7468), IRF6(3664), B3GALTL(145173), DCAF17(80067), HNF1B(6928), DHH(50846), WNT4(54361), AR(367), WNT7A(7476), BMPR1B(658), CYP11B1(1584)]
ABSENT/POOR CORTICOMEDULLARY DIFFERENTIATION(HP:0005565)	[NIPBL(25836)]
ACANTHOSIS NIGRICANS(HP:0000956)	[PPP1R3A(5506), BSCL2(26580), PPARG(5468), INSR(3643), HRAS(3265), LMNA(4000), ALMS1(7840), AGPAT2(10555), FGFR2(2263), PTEN(5728), TGFA(7039)]
ACCELERATED ATHEROSCLEROSIS(HP:0004943)	[ABCC6(368)]
ACCELERATED BONE AGE AFTER PUBERTY(HP:0002805)	[TRPS1(7227)]
ACCELERATED SKELETAL MATURATION(HP:0005616)	[BSCL2(26580), TRPS1(7227), GPC3(2719), ALMS1(7840), AGPAT2(10555), NSD1(64324), TSHR(7253), CYP19A1(1588), MC2R(4158), CANT1(124583), CYP11B1(1584), GLI3(2737)]
ACCESSORY CARPAL BONES(HP:0004232)	[FLNA(2316), FLNB(2317)]
ACCESSORY PHALANX OF THE THUMB(HP:0009619)	[SALL1(6299), FGF10(2255), HOXD13(3239), TBX5(6910), SALL4(57167), FGFR3(2261), LMBR1(64327)]
ACCESSORY SPLEEN(HP:0001747)	[MYCN(4613), MKS1(54903), ESCO2(157570), WHCR(7467), WHSC1(7468), HYLS1(219844)]
ACCIDENTAL INJURY AND ULCERATION OF THE LIPS AND TONGUE DUE TO DECREASED SENSATION(HP:0002713)	[NTRK1(4914), NGF(4803)]
ACCUMULATION OF MELANOSOMES IN MELANOCYTES(HP:0001008)	[RAB27A(5873), MYO5A(4644), LYST(1130)]
ACETABULAR DYSPLASIA(HP:0008807)	[GUSB(2990), AP3B1(8546)]
ACHALASIA(HP:0002571)	[AAAS(8086), ACTB(60)]
ACHILLES TENDON CONTRACTURES(HP:0001771)	[FKRP(79147), MYOT(9499), HRAS(3265), LMNA(4000), LARGE(9215), ALS2(57679), EMD(2010)]
ACHILLES TENDON CONTRACTURES, MILD(HP:0005031)	[LARGE(9215)]
ACHROMATIC RETINAL PATCHES(HP:0009727)	[TSC1(7248), TSC2(7249)]
ACIDOSIS(HP:0001941)	[CPT1A(1374), SUCLG1(8802), FBP1(2203), AUH(549), MMAA(166785), MCCC1(56922), SLC7A7(9056), COX15(1355), COQ2(27235), TYMP(1890), GYS2(2998), TK2(7084), ACADM(34), UQCRB(7381), ACADS(35), MRPS22(56945), ATP6V1B1(525), GK(2710), NEUROG3(50674), SURF1(6834), C10orf2(56652), SCO2(9997), C20orf7(79133), DBT(1629), MPV17(4358), UMPS(7372), PUS1(80324), NDUFS7(374291), PDHA1(5160), FH(2271), SDHA(6389), BCS1L(617), POLG(5428), PDP1(54704), TSFM(10102), PDSS2(57107), NDUFA1(4694), NDUFA2(4695), PDSS1(23590), C8orf38(137682), SLC37A4(2542), COX6B1(1340), G6PC(2538), ARG1(383), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), TAZ(6901), BCKDHA(593), WNK1(65125), NDUFS3(4722), NDUFV1(4723), DPYS(1807), HADHB(3032), NDUFS2(4720), BCKDHB(594), NDUFS6(4726), IVD(3712), OGDH(4967), FASTKD2(22868), NDUFS4(4724), HPD(3242), NDUFS8(4728), HADHA(3030), SDHAF1(644096), MLYCD(23417), HSD17B10(3028), BTD(686), SLC4A4(8671), LCT(3938), NDUFAF2(91942), HMGCL(3155), CTNS(1497), GALT(2592), HLCS(3141), UQCRQ(27089), FN1(2335), LRPPRC(10128), NDUFAF3(25915), DLAT(1737), DLD(1738), PNPO(55163), INVS(27130), GFM1(85476), PDHX(8050), ETHE1(23474), MRPS16(51021), ISCU(23479), MUT(4594), DGUOK(1716), CA2(760), SLC17A3(10786), GSS(2937), SLC4A1(6521), SLC5A1(6523), COQ9(57017), MMAB(326625), ALDOB(229), MMACHC(25974), WNK4(65266), PCCB(5096), MCEE(84693), APTX(54840), PC(5091), PCCA(5095), CABC1(56997), GCDH(2639)]
ACIDURIA(HP:0200014)	[PEX19(5824), BTD(686), SUCLG1(8802), SLC19A2(10560), MMAA(166785), MMADHC(27249), PEX5(5830), MCCC2(64087), PRODH(5625), SLC6A19(340024), HMGCL(3155), DNAJC19(131118), ALDH4A1(8659), CTNS(1497), SLC7A7(9056), MTHFR(4524), GALT(2592), UQCRQ(27089), HLCS(3141), AASS(10157), SLC36A2(153201), UQCRB(7381), TK2(7084), ACADM(34), ACADS(35), GALE(2582), ACADL(33), PEX10(5192), PEX14(5195), ACADVL(37), PEX13(5194), PEX1(5189), ETFDH(2110), ETFB(2109), ETFA(2108), C10orf2(56652), MPV17(4358), UMPS(7372), ATP7B(540), ETHE1(23474), CPT2(1376), SLC6A20(54716), ACAD9(28976), OCRL(4952), BCS1L(617), LMBRD1(55788), MUT(4594), DGUOK(1716), SLC3A1(6519), CYP27B1(1594), SLC2A2(6514), CBS(875), PEX26(55670), MMAB(326625), CLCN5(1184), COX6B1(1340), ALDOB(229), ARG1(383), PEX3(8504), SLC7A9(11136), MMACHC(25974), HADHB(3032), HADH(3033), FASTKD2(22868), MTRR(4552), MCEE(84693), HPD(3242), CASR(846), HADHA(3030), GCDH(2639)]
ACNE(HP:0001061)	[AGA(175), DGCR(1714), TBX1(6899), WNT4(54361), PSTPIP1(9051), FGFR2(2263)]
ACRAL HYPERTROPHY(HP:0008856)	[INSR(3643)]
ACRAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION OF THE DIGITS(HP:0001226)	[NTRK1(4914), NGF(4803)]
ACRAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION OF THE DIGITS (FEET)(HP:0001862)	[NTRK1(4914), NGF(4803)]
ACRAL ULCERATION LEADING TO AUTOAMPUTATION OF DIGITS(HP:0006121)	[WNK1(65125)]
ACROBRACHYCEPHALY(HP:0004487)	[FGFR2(2263)]
ACROCYANOSIS(HP:0001063)	[JAK2(3717), IKBKAP(8518), MPL(4352), THPO(7066), AGXT(189), TREX1(11277)]
ACROMEGALY(HP:0000845)	[SSTR5(6755), GNAS(2778), PRKAR1A(5573), AIP(9049), CDKN1B(1027), MEN1(4221)]
ACROMESOMELIA(HP:0003086)	[NPR2(4882), GDF5(8200)]
ACROOSTEOLYSIS (FEET)(HP:0001842)	[WNK1(65125), LMNA(4000), COL3A1(1281), ZMPSTE24(10269)]
ACROOSTEOLYSIS OF DISTAL PHALANGES (FEET)(HP:0001870)	[LMNA(4000), ZMPSTE24(10269)]
ACTH-INDEPENDENT HYPERCORTISOLEMIA(HP:0001579)	[PDE11A(50940), PRKAR1A(5573)]
ACTION AND POSTURAL TREMOR(HP:0007197)	[ATXN2(6311)]
ACTION TREMOR(HP:0002345)	[ITPR1(3708), JPH3(57338)]
ACUTE ENCEPHALOPATHY(HP:0006846)	[SLC25A15(10166), NDUFAF3(25915), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), NDUFAF2(91942), PCCB(5096), NDUFV1(4723), NDUFS2(4720), C20orf7(79133), NDUFS6(4726), NDUFS4(4724), NDUFA1(4694), ACY1(95), PCCA(5095)]
ACUTE EPISODES OF NEUROPATHIC SYMPTOMS(HP:0003489)	[CPOX(1371), HMBS(3145)]
ACUTE HEPATIC FAILURE(HP:0006554)	[FAH(2184), HADH(3033), GFM1(85476), SH2D1A(4068)]
ACUTE LEUKEMIA(HP:0002488)	[ARHGEF12(23365), PBX1(5087), RARA(5914), BCR(613), MYB(4602), GATA1(2623), NSD1(64324), CDKN2A(1029), DCR(1637), FLT3(2322), NPM1(4869), CEBPA(1050), KIT(3815), SBDS(51119), MLLT10(8028), POLA1(5422), SH3GL1(6455), MOS(4342), ETV6(2120), LPP(4026), NUP214(8021), FES(2242), TLX1(3195), MLL(4297), PICALM(8301), DKC1(1736), RUNX1(861), GMPS(8833), MLF1(4291), JAK2(3717), AMLCR2(9163), ELANE(1991), TP53(7157), WHSC1L1(54904)]
ACUTE LYMPHATIC LEUKEMIA(HP:0006721)	[PBX1(5087), TLX1(3195), MLL(4297), POLA1(5422), BCR(613), MYB(4602)]
ACUTE MEGAKARYOCYTIC LEUKEMIA(HP:0006733)	[GATA1(2623), DCR(1637)]
ACUTE MONOCYTIC LEUKEMIA(HP:0004845)	[ELANE(1991), MLL(4297), RUNX1(861)]
ACUTE MYELOID LEUKEMIA(HP:0004808)	[MLL(4297), SBDS(51119), MOS(4342), DKC1(1736), RUNX1(861)]
ACUTE MYELOMONOCYTIC LEUKEMIA(HP:0004820)	[MLL(4297)]
ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965)	[NDUFV1(4723), NDUFS2(4720), NDUFS6(4726), C20orf7(79133), NDUFAF3(25915), NDUFA1(4694), NDUFS4(4724), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), NDUFAF2(91942)]
ACUTE OTITIS MEDIA(HP:0000371)	[TNFRSF13B(23495), ICOS(29851)]
ACUTE PROMYELOCYTIC LEUKEMIA(HP:0004836)	[RARA(5914), FES(2242)]
ACUTE RENAL FAILURE(HP:0001919)	[CFH(3075), LPIN1(23175)]
ACUTE SINUSITIS(HP:0000255)	[TNFRSF13B(23495), ICOS(29851)]
ADDUCTED THUMBS(HP:0001181)	[FBN2(2201), SLC9A6(10479), ALG3(10195), L1CAM(3897), TPM2(7169), MYH3(4621), CHST14(113189), PHGDH(26227), LIFR(3977)]
ADENOMA SEBACEUM(HP:0009720)	[MEN1(4221), TSC1(7248), TSC2(7249)]
ADERMATOGLYPHIA(HP:0007455)	[KRT14(3861)]
ADIPOSE TISSUE LOSS(HP:0008887)	[INSR(3643), LMNA(4000), ZMPSTE24(10269)]
ADRENAL CARCINOMA(HP:0002889)	[KCNQ1OT1(10984), APC(324), NSD1(64324), CDKN1C(1028), TP53(7157), CDKN2A(1029), H19(283120)]
ADRENAL HYPOPLASIA(HP:0000835)	[PEX19(5824), BMP4(652), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), ZMPSTE24(10269), GLI3(2737), MKS1(54903), NR0B1(190), NSDHL(50814), TBX19(9095), PEX26(55670)]
ADRENAL INSUFFICIENCY(HP:0000846)	[AIRE(326), AAAS(8086), NR0B1(190), PEX10(5192), PEX5(5830), PEX13(5194), PEX1(5189), GK(2710), ABCD1(215), HSD17B4(3295), CRH(1392), PEX26(55670)]
ADRENOCORTICAL ABNORMALITY(HP:0000849)	[CYP11A1(1583), RET(5979), LHX4(89884), NSD1(64324), CDKN1C(1028), H19(283120), GLI3(2737), HSD11B2(3291), PROP1(5626), AIRE(326), AAAS(8086), KCNQ1OT1(10984), PDE11A(50940), BSND(7809), KCNJ1(3758), CYP21A2(1589), MEN1(4221), CYP17A1(1586), CYP11B2(1585), CYP11B1(1584), STAR(6770), GNAS(2778), CLCNKB(1188), GK(2710), PCSK1(5122), SLC26A3(1811), PRKAR1A(5573), NR0B1(190), SLC12A1(6557), SCNN1G(6340), SCNN1B(6338)]
ADRENOCORTICAL ADENOMA(HP:0008256)	[MEN1(4221)]
ADRENOCORTICAL CARCINOMA(HP:0006744)	[TP53(7157), CDKN2A(1029)]
ADRENOCORTICAL CYTOMEGALY(HP:0008186)	[KCNQ1OT1(10984), NSD1(64324), CDKN1C(1028), H19(283120)]
ADRENOCORTICAL HYPOPLASIA(HP:0008182)	[GK(2710)]
ADRENOCORTICAL INSUFFICIENCY(HP:0008219)	[HSD17B4(3295)]
ADRENOCORTICOTROPIC HORMONE -RESISTANT ADRENAL INSUFFICIENCY(HP:0008259)	[AAAS(8086)]
ADRENOGENITAL SYNDROME(HP:0000840)	[STAR(6770), CYP11A1(1583), CYP21A2(1589), CYP17A1(1586), CYP11B1(1584)]
ADULT FEMALE HEIGHT 130-157 CM(HP:0003512)	[FBN1(2200), ADAMTS10(81794)]
ADULT MALE HEIGHT 142-169 CM(HP:0003518)	[FBN1(2200), ADAMTS10(81794)]
ADULT ONSET HAS BEEN REPORTED(HP:0003662)	[SPG11(80208), GBA(2629), APTX(54840), TSC1(7248)]
ADVANCED MATURATION/ADVANCED OSSIFICATION OF CARPAL BONES(HP:0004233)	[SLC35D1(23169), PTH1R(5745), CANT1(124583)]
ADVANCED TARSAL OSSIFICATION(HP:0008108)	[SLC35D1(23169), PTH1R(5745), CANT1(124583)]
AGAMMAGLOBULINEMIA(HP:0004432)	[IL2RG(3561)]
AGE OF ONSET(HP:0003674)	[FKRP(79147), CHAT(1103), MMADHC(27249), VPS33B(26276), TRIM24(8805), SACS(26278), HSD17B4(3295), TRPM6(140803), SLC16A2(6567), ABCB7(22), COQ2(27235), DOLK(22845), CHRNA1(1134), FECH(2235), ACADS(35), ACADL(33), HSPB1(3315), ACADSB(36), ACADVL(37), NEUROG3(50674), SLC6A8(6535), ACOX1(51), FKTN(2218), MPZ(4359), SLC12A3(6559), CHRNE(1145), CHRND(1144), ACTA1(58), CHRNB1(1140), TNFRSF11A(8792), CHRNA4(1137), POLG(5428), KCTD7(154881), POLH(5429), CDKN2A(1029), CEBPA(1050), HSPB8(26353), ACVR1(90), C8orf38(137682), SMN1(6606), ADAR(103), CNBP(7555), ADA(100), TRPV4(59341), WNK1(65125), SNCA(6622), CTSC(1075), PMP22(5376), SMPD1(6609), PRNP(5621), ERCC2(2068), CCT5(22948), SGCB(6443), PRPS1(5631), SGCA(6442), ERCC6(2074), KIAA0196(9897), TRIM33(51592), MAP2K1(5604), MAP2K2(5605), MTHFR(4524), SH3BP2(6452), FAM126A(84668), SH3GL1(6455), MFSD8(256471), SPG11(80208), SGCE(8910), SOX18(54345), MTMR2(8898), FGD4(121512), WT1(7490), VMA21(203547), PRKAR1A(5573), NR0B1(190), PRKCG(5582), XPC(7508), HNF4A(3172), MSR1(4481), XPA(7507), EXT2(2132), SQSTM1(8878), EXT1(2131), MUSK(4593), EIF2B2(8892), EIF2B5(8893), PPT1(5538), SLC2A1(6513), NCF1(653361), EIF2B4(8890), EIF2B3(8891), BEAN(146227), HEXA(3073), GDAP1(54332), CFH(3075), CLCN1(1180), ETV6(2120), AKT2(208), PCDH15(65217), SMARCAL1(50485), CLCN7(1186), PPP2R2B(5521), FRMD7(90167), MFN2(9927), CLCNKB(1188), TSEN54(283989), GMPS(8833), VHL(7428), ALDH3A2(224), ALPL(249), VRK1(7443), GOLGA5(9950), AMT(275), VCP(7415), SCN5A(6331), BIN1(274), PGK1(5230), SCN4A(6329), SCN9A(6335), NAGS(162417), SCN1A(6323), NSD1(64324), MAPT(4137), VDR(7421), RNF139(11236), CP(1356), SLC7A7(9056), COX15(1355), GNE(10020), HCN4(10021), ATXN1(6310), UROS(7390), C10orf2(56652), SCO2(9997), PFKM(5213), SLC25A4(291), ATP8B1(5205), CPT2(1376), UMOD(7369), TRAPPC2(6399), PDHA1(5160), COMP(1311), SDHD(6392), COL17A1(1308), SDHC(6391), SDHB(6390), COL9A1(1297), SDHA(6389), MECP2(4204), APOE(348), COL8A2(1296), PDP1(54704), AMACR(23600), AIRE(326), COL6A1(1291), MEFV(4210), COL7A1(1294), IGF1(3479), COL6A2(1292), COL6A3(1293), COL4A1(1282), PDSS1(23590), IGF1R(3480), BSCL2(26580), LMNB2(84823), POMGNT1(55624), CHST6(4166), SLC39A4(55630), SPG21(51324), AQP2(359), GAA(2548), AR(367), KLF6(1316), LDB3(11155), ARSA(410), LGI1(9211), DIRC2(84925), LARGE(9215), FLNC(2318), PLP1(5354), GRHL2(79977), CTNS(1497), FLT3(2322), TTR(7276), TTN(7273), FLT4(2324), ATP6AP2(10159), LRPPRC(10128), OSMR(9180), TRIOBP(11078), TSHR(7253), ASL(435), CYBA(1535), TSC1(7248), L2HGDH(79944), CFI(3426), CTSD(1509), AMLCR2(9163), KITLG(4254), SLC6A5(9152), PLG(5340), PLEC(5339), CTDP1(9150), ATP1A3(478), RYR1(6261), HSPD1(3329), LMBRD1(55788), CRYAB(1410), PKD2(5311), FXN(2395), MMAB(326625), PHKA1(5255), MLF1(4291), ANTXR2(118429), MMP2(4313), ATP2A2(488), TPM3(7170), TH(7054), SH3TC2(79628), PLCE1(51196), DDB2(1643), AUH(549), DCX(1641), GLUD1(2746), MMAA(166785), DDC(1644), GLRB(2743), GAN(8139), GLRA1(2741), AVPR2(554), DCTN1(1639), TGFB1(7040), RDX(5962), NPM1(4869), PRPH2(5961), GLDC(2731), KIT(3815), NPC1(4864), GLB1(2720), SBF2(81846), TK2(7084), COLQ(8292), GLA(2717), RHO(6010), NKX2-1(7080), KIF5A(3798), NTRK1(4914), CRTAP(10491), PICALM(8301), GJB3(2707), KCNMA1(3778), GIF(2694), ATP7A(538), NDUFS7(374291), FBXO7(25793), ARHGEF12(23365), RAPSN(5913), NDRG1(10397), GDF5(8200), BCS1L(617), FGF23(8074), AAAS(8086), KCNC3(3748), ATXN10(25814), RAG2(5897), TNFRSF1A(7132), RAG1(5896), GPR98(84059), CYP11B2(1585), CYP11B1(1584), OPA1(4976), GNAS(2778), OPHN1(4983), CYLD(1540), TNNT1(7138), CYBB(1536), KCNA1(3736), ATP13A2(23400), PABPN1(8106), SDHAF2(54949), JAK2(3717), SNAP29(9342), DOK7(285489), OGG1(4968), TP53(7157), AMN(81693), PLA2G6(8398), ATL1(51062), TMPRSS3(64699), ITPR1(3708), HNF1A(6927), CC2D1A(54862), BRCA2(675), BRAF(673), OTC(5009), GARS(2617), ITGB4(3691), CCDC6(8030), NCOA4(8031), MLLT10(8028), HNF1B(6928), TREX1(11277), CUBN(8029), ALS2(57679), KL(9365), DNM2(1785), NUP214(8021), DIAPH1(1729), GALC(2581), DLAT(1737), GALNS(2588), PARK7(11315), GALNT3(2591), DLD(1738), PSAT1(29968), BFSP2(8419), PRX(57716), GABRG2(2566), DOCK8(81704), C20orf54(113278), PDHX(8050), MRPS16(51021), PDX1(3651), DMD(1756), ISCU(23479), WHSC1L1(54904), ITGA6(3655), GAD1(2571), ZFYVE26(23503), FLCN(201163), FZD4(8322), CYP7B1(9420), PAX4(5078), RNASEL(6041), GPHN(10243), PARK2(5071), GFAP(2670), TECTA(7007), ITM2B(9445), COQ9(57017), ALG1(56052), IMPDH1(3614), GCK(2645), TIMM8A(1678), GCSH(2653), PCM1(5108), EIF2AK3(9451), MAD1L1(8379), DFNA5(1687), GBA(2629), GJB4(127534), APTX(54840), PC(5091), CABC1(56997), MYOT(9499), SLURP1(57152), TACSTD2(4070), SETX(23064), GJC2(57165), IKBKAP(8518), PDE11A(50940), MYH7(4625), RAB7A(7879), MYH9(4627), MYO7A(4647), NIPA1(123606), MYO5B(4645), YARS(8565), MYO5A(4644), SEPN1(57190), KIF1B(23095), LRP5(4041), PTEN(5728), MCOLN1(57192), SURF1(6834), ABCC8(6833), CACNA1A(773), AP3B1(8546), LITAF(9516), ALDH5A1(7915), NAGA(4668), NAGLU(4669), SUOX(6821), TCAP(8557), LMNB1(4001), LMNA(4000), NPHS2(7827), LOR(4014), CYP2R1(120227), PSAP(5660), HTT(3064), NCF2(4688), PDSS2(57107), SPG20(23111), PSEN1(5663), BSND(7809), NDUFA2(4695), NLGN4X(57502), HCRT(3060), LPP(4026), NEB(4703), ANKH(56172), ATN1(1822), LHCGR(3973), CAV3(859), DRD2(1813), RUNX1(861), TAZ(6901), PSEN2(5664), NDUFS3(4722), NDUFV1(4723), DLL3(10683), PCDH19(57526), LIPA(3988), OFD1(8481), CLDN16(10686), NDUFS4(4724), AGRN(375790), CASP10(843), CXCR4(7852), NDUFS8(4728), HSD17B10(3028), NEFL(4747), SPG7(6687), SLC34A2(10568), SPAST(6683), NPC2(10577), ENO3(2027), ABCB11(8647), POMT1(10585), LAMB3(3914), PLEKHG5(57449), CD8A(925), LAMB2(3913), LAMC2(3918), VPS13A(23230), EMD(2010), AKR1D1(6718), D2HGDH(728294), IQCB1(9657), SPTBN2(6712), LAMA2(3908), LAMA3(3909), RAB27A(5873), MLC1(23209), ARHGEF10(9639), GFM1(85476), SPINK1(6690), JPH3(57338), NGF(4803), KRT17(3872), PINK1(65018), EGR2(1959), GSN(2934), NME1(4830), EIF2B1(1967), CHMP2B(25978), KRT5(3852), STAT3(6774), NLRP3(114548), KRAS(3845), MMACHC(25974), GRN(2896), SLC34A3(142680), KRT14(3861), PNKD(25953), SLC35A1(10559), NOTCH3(4854)]
AGED LEONINE APPEARANCE(HP:0008509)	[GTF2H5(404672), ERCC2(2068), ERCC3(2071)]
AGENESIS OF CEREBELLAR VERMIS(HP:0002335)	[ZIC1(7545), ZIC4(84107), SACS(26278), MVK(4598), CEP290(80184), TFAP2A(7020)]
AGENESIS OF CORPUS CALLOSUM(HP:0001274)	[AMT(275), FKRP(79147), EP300(2033), HIBCH(26275), CD96(10225), DCX(1641), PDHA1(5160), HCCS(3052), LARGE(9215), ZEB2(9839), NSD1(64324), ERCC6(2074), FGFR2(2263), GLI3(2737), MED12(9968), MID1(4281), BUB1B(701), ALX3(257), GLDC(2731), SOX2(6657), L1CAM(3897), IGBP1(3476), POMT1(10585), GPC3(2719), SPG11(80208), LRP2(4036), PORCN(64840), B3GALTL(145173), HYLS1(219844), GCSH(2653), CRH(1392), TUBA1A(7846), MKS1(54903), FKTN(2218), OFD1(8481), FAM123B(139285), ARX(170302), CREBBP(1387), RECQL4(9401), PDHX(8050), SLC12A6(9990), MRPS16(51021), CPT2(1376), RAB3GAP1(22930), POMT2(29954)]
AGENESIS OF PULMONARY VESSELS(HP:0005311)	[STRA6(64220)]
AGENESIS OF THE DIAPHRAGM(HP:0008986)	[HYLS1(219844)]
AGGRESSIVE BEHAVIOR(HP:0000718)	[AMT(275), PRNP(5621), MAOA(4128), EHMT1(79813), NAGS(162417), INPP5E(56623), PRODH(5625), SPAST(6683), MED12(9968), DHCR7(1717), GLDC(2731), NDP(4693), UROC1(131669), TREM2(54209), SYN1(6853), PAK3(5063), CHMP2B(25978), VPS13A(23230), TBP(6908), GCSH(2653), ATP13A2(23400), SLC6A8(6535), PCDH19(57526), KDM5C(8242), SLITRK1(114798), GBA(2629), ALDH5A1(7915), TYROBP(7305), NAGLU(4669), MANBA(4126), SPR(6697), HSD17B10(3028)]
AGITATION(HP:0000713)	[PDE11A(50940), PRKAR1A(5573), CACNA1A(773), GRN(2896), IGF1R(3480), TSEN54(283989), SUOX(6821), HSD17B10(3028), SPAST(6683)]
AGORAPHOBIA(HP:0000756)	[SGCE(8910), DRD2(1813)]
AKINESIA(HP:0002304)	[ERBB3(2065), PANK2(80025), GBA(2629), MAPT(4137), ATP13A2(23400)]
ALACRIMA(HP:0000522)	[AAAS(8086), IKBKAP(8518), FGF10(2255), FGFR3(2261)]
ALBINISM(HP:0001022)	[OCA2(4948), HPS3(84343), HPS5(11234), HPS1(3257), PAX3(5077), EDNRB(1910), TYR(7299), GPR143(4935), AP3B1(8546), BLOC1S3(388552), MITF(4286), SNAI2(6591), HPS4(89781), COL4A1(1282), TYRP1(7306), HPS6(79803), DTNBP1(84062)]
ALDEHYDE OXIDASE DEFICIENCY(HP:0002932)	[GPHN(10243), MOCS2(4338), MOCS1(4337)]
ALKALOSIS(HP:0001948)	[CPS1(1373), ASS1(445), CLCNKB(1188), ASL(435), SLC26A3(1811), OTC(5009), SLC12A3(6559), BSND(7809), SLC12A1(6557), SCNN1G(6340), KCNJ1(3758), CYP17A1(1586), SCNN1B(6338), NR3C1(2908)]
ALL(HP:0000001)	[HIBCH(26275), SUCLG1(8802), A2M(2), TINF2(26277), TRIM24(8805), VPS33B(26276), SACS(26278), NAT1(9), DPM1(8813), TRPM6(140803), ABCA1(19), ABAT(18), HESX1(8820), ABCB7(22), ABL1(25), ABCA4(24), ACADM(34), ACADS(35), ACADL(33), ACAT1(38), ACADSB(36), ACADVL(37), B3GALTL(145173), ACOX1(51), MPO(4353), MPL(4352), MPZ(4359), MPV17(4358), ACP2(53), TNFRSF10B(8795), ACTA1(58), TNFRSF11A(8792), ACTB(60), ACTG1(71), UPF3B(65109), FAM83H(286077), HSPB8(26353), ACY1(95), ACVRL1(94), ACVR1(90), ADAR(103), ADA(100), MSH2(4436), CCM2(83605), NDUFA11(126328), WNK1(65125), TUBB2B(347733), ABCA12(26154), PHOX2B(8929), MTM1(4534), C7orf11(136647), MTHFR(4524), TMEM67(91147), ADSL(158), MFRP(83552), PRPF31(26121), AGA(175), MFSD8(256471), AFP(174), SGCE(8910), MTMR2(8898), MSX2(4488), AGTR1(185), NR0B1(190), MIPOL1(145282), AHCY(191), AGXT(189), AGL(178), ACAN(176), MSR1(4481), KIAA1279(26128), JAG1(182), AGT(183), MSX1(4487), AK2(204), MYBPC3(4607), AKT1(207), SQSTM1(8878), AK1(203), MYB(4602), ST3GAL5(8869), MVK(4598), MUSK(4593), MUTYH(4595), MUT(4594), EIF2B2(8892), EIF2B5(8893), TRIM37(4591), ALDH1A1(216), ALDH2(217), EIF2B4(8890), EIF2B3(8891), ALAS2(212), ABCD1(215), AKT2(208), PHGDH(26227), ALAD(210), PCDH15(65217), PROM1(8842), WISP3(8838), ALDOB(229), ALDOA(226), GMPS(8833), WNK4(65266), ALDH3A2(224), MTRR(4552), ALPL(249), MTR(4548), ALOX12B(242), MTTP(4547), AMT(275), BIN1(274), MAOB(4129), MAOA(4128), CLDN1(9076), ANCR(282), MAPT(4137), ANK2(287), MAT1A(4143), ANK1(286), AMBP(259), SLC4A11(83959), SLC7A7(9056), ALX3(257), MATN3(4148), PAPSS2(9060), AMELY(266), AMELX(265), AMPD1(270), MC2R(4158), AMH(268), AMHR2(269), AIP(9049), PSTPIP1(9051), C10orf2(56652), SLC25A4(291), SLC17A5(26503), CNNM4(26504), MAN2B1(4125), MANBA(4126), APOB(338), APOA4(337), APOA2(336), APP(351), INPP5E(56623), MECP2(4204), APOE(348), APOC2(344), AIRE(326), APC(324), SPATA16(83893), MEFV(4210), APOA1(335), MEN1(4221), BSCL2(26580), CHST6(4166), ARAF(369), ABCC6(368), MC4R(4160), ARG1(383), MCM6(4175), MCF2(4168), MCL1(4170), AQP2(359), APRT(353), FAS(355), AR(367), ARSA(410), LGI1(9211), ARSB(411), ARSE(415), LARGE(9215), STS(412), MGP(4256), PHOX2A(401), CIITA(4261), MID1(4281), ATXN3(4287), MITF(4286), ASNS(440), MET(4233), ASPA(443), OSMR(9180), ASS1(445), ASL(435), ASAH1(427), AMLCR2(9163), ASCL1(429), KITLG(4254), SLC6A5(9152), MGAT2(4247), ATP1A3(478), CTDP1(9150), ATP1A2(477), MN1(4330), ATM(472), ATIC(471), MMP13(4322), MPI(4351), SERPINC1(462), KCNQ4(9132), PRPF3(9129), MOS(4342), MOCS2(4338), MOCS1(4337), MLLT3(4300), FOXO4(4303), MLL(4297), MLLT1(4298), AFF1(4299), MLH1(4292), ALDH7A1(501), MLF1(4291), FCGR2C(9103), ANTXR2(118429), MMP2(4313), ATP2A2(488), TBX19(9095), ATP2A1(487), FXYD2(486), AVP(551), AUH(549), NPR2(4882), ATRX(546), PROK2(60675), ATR(545), NRAS(4893), AVPR2(554), SLC11A2(4891), MCCC1(56922), B2M(567), NPM1(4869), NPHS1(4868), NPHP1(4867), SLC10A3(8273), NPC1(4864), USP9Y(8287), NPPA(4878), KDM5D(8284), COLQ(8292), EPX(8288), NTRK1(4914), DYSF(8291), MRPS22(56945), ATP6V1B1(525), PICALM(8301), ROR2(4920), DDR2(4921), GTF2H5(404672), RAB3GAP2(25782), ATP7B(540), AXIN2(8313), AXIN1(8312), ATP7A(538), MKKS(8195), OPN1SW(611), FBXO7(25793), OCA2(4948), BCR(613), GDF5(8200), OCRL(4952), BCS1L(617), BDNF(627), ATXN10(25814), GPR143(4935), OAT(4942), OPA1(4976), BBS1(582), TNFRSF11B(4982), BBS2(583), OPHN1(4983), BBS4(585), NIPBL(25836), BCHE(590), SIX6(4990), BCKDHA(593), CCND1(595), BCKDHB(594), KDM5C(8242), BCL2(596), OGDH(4967), OGG1(4968), BCL3(602), BTD(686), PLA2G6(8398), OXCT1(5019), TMPRSS3(64699), EFEMP2(30008), TBX21(30009), BRCA2(675), OTC(5009), BRAF(673), BUB1B(701), SLC22A18(5002), SLC46A1(113235), BTK(695), PAH(5053), BMP4(652), NR0B2(8431), SERPINE1(5054), BLM(641), PSAT1(29968), BFSP2(8419), FOXL2(668), BPGM(669), P4HB(5034), C20orf54(113278), GNPAT(8443), RAD54L(8438), DMGDH(29958), BMPR1A(657), BMPR1B(658), POMT2(29954), BMPR2(659), PAX7(5081), PAX6(5080), PBX1(5087), FZD4(8322), PAX4(5078), PAX3(5077), PAX2(5076), CA4(762), CA2(760), RXFP2(122042), PARK2(5071), RAX(30062), PAPPA(5069), FAM20C(56975), PAK3(5063), C1QA(712), C1R(715), COQ9(57017), C2(717), PCNT(5116), C3(718), PCK1(5105), CHST14(113189), PCK2(5106), PCM1(5108), SERPING1(710), PCCB(5096), C6(729), C7(730), MAD1L1(8379), C8A(731), C8B(732), C4A(720), PC(5091), PCBD1(5092), C5(727), CABC1(56997), PCCA(5095), PITPNM3(83394), MYCN(4613), P2RY12(64805), MYC(4609), SLURP1(57152), NELF(26012), SALL4(57167), MYH3(4621), AGPS(8540), GJC2(57165), CAPN3(825), MYF6(4618), MYH11(4629), IKBKG(8517), IKBKAP(8518), MYH7(4625), MYH8(4626), MYH9(4627), MYO7A(4647), MYO5B(4645), YARS(8565), SLC25A20(788), SEPN1(57190), MYO5A(4644), MYOC(4653), S100G(795), MCOLN1(57192), LMF1(64788), CACNA1C(775), CACNA1A(773), AP3B1(8546), CACNB2(783), NAGA(4668), NAGLU(4669), TCAP(8557), ICOS(29851), CACNA1F(778), CACNA1S(779), UOX(391051), KRIT1(889), NYX(60506), EVC2(132884), ALG6(29929), NBN(4683), NCF2(4688), PDSS2(57107), SERPINA6(866), CUL4B(8450), NDN(4692), NDP(4693), NDUFA1(4694), NDUFA2(4695), FOXN1(8456), CBS(875), NEB(4703), ALX4(60529), GOPC(57120), CAV3(859), PORCN(64840), PEX3(8504), NDUFS1(4719), RUNX1(861), RUNX2(860), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), OFD1(8481), NDUFS6(4726), NDUFS4(4724), UBIAD1(29914), CASP10(843), NDUFS8(4728), CASP8(841), CASR(846), CAT(847), PRSS12(8492), PPM1D(8493), CD40(958), CD40LG(959), SLC4A4(8671), NEFL(4747), CD36(948), SCARB2(950), NDUFAF2(91942), ALDH4A1(8659), NF1(4763), ABCB11(8647), NEU1(4758), PTCH2(8643), CD8A(925), NDUFAF3(25915), CD4(920), CD247(919), CD3E(916), CD3G(917), NF2(4771), JPH3(57338), STX16(8675), TNFSF11(8600), NHS(4810), CDK4(1019), NGF(4803), CDH3(1001), PINK1(65018), NME1(4830), CDH1(999), CHMP2B(25978), CDK11B(984), TP63(8626), RFXANK(8625), NODAL(4838), MMACHC(25974), PDE8B(8622), PNP(4860), NOTCH1(4851), PNKD(25953), NOTCH3(4854), FKRP(79147), CHAT(1103), PPOX(5498), MCCC2(64087), DNAJC19(131118), SLC35C1(55343), CDH23(64072), CTSA(5476), PPIB(5479), MATR3(9782), UBR1(197131), GNPTAB(79158), CHRNA1(1134), TMC1(117531), PPARG(5468), NOD2(64127), LYST(1130), SART3(9733), CHML(1122), POU3F4(5456), CHM(1121), SFTPA1(653509), C20orf7(79133), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), PON1(5444), CHRNB1(1140), CHRNA4(1137), CDR1(1038), ZEB2(9839), CDKN1B(1027), BBS12(166379), CDKN1C(1028), POLG(5428), CDKN2A(1029), POLH(5429), CEACAM5(1048), CEBPA(1050), CEBPE(1053), CECR(1055), POLA1(5422), PNMT(5409), CDSN(1041), CES1(1066), PNLIP(5406), CETP(1071), SFTPA2(729238), PMS2(5395), CFTR(1080), RB1CC1(9821), CUL7(9820), CTSC(1075), PMP22(5376), PRNP(5621), PRPS1(5631), ROBO3(64221), STRA6(64220), PRODH(5625), KIAA0196(9897), PROC(5624), PROS1(5627), TRIM33(51592), PROP1(5626), MAP2K1(5604), MAP2K2(5605), MAPK10(5602), ABCC2(1244), PRKCSH(5589), ABCG8(64241), ABCG5(64240), CNGA3(1261), FGD4(121512), CNGB1(1258), PRKAR1A(5573), PRKCG(5582), COL1A2(1278), COL1A1(1277), PRKCA(5578), ERCC8(1161), MED12(9968), PPT1(5538), NCF1(653361), PRCC(5546), CLCN1(1180), NOP10(55505), CLCN7(1186), PPP2R2B(5521), FRMD7(90167), CLCN5(1184), MFN2(9927), SUFU(51684), CLCNKB(1188), PPP1R3A(5506), CLN5(1203), TPP1(1200), CLN3(1201), DLEC1(9940), CARD9(64170), GOLGA5(9950), PPP2R1B(5519), LEPRE1(64175), CPT1A(1374), PGK1(5230), CPS1(1373), CPOX(1371), PGD(5226), CPN1(1369), PGAM2(5224), NSD1(64324), LMBR1(64327), GLRX5(51218), FERMT1(55612), ESCO2(157570), ABCB4(5244), CP(1356), PHB(5245), COX15(1355), PGR(5241), KIF21A(55605), GNE(10020), HCN4(10021), CFP(5199), CRX(1406), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), NT5C3(51251), CRH(1392), PEPD(5184), NR2E3(10002), PFKM(5213), SCO2(9997), KCNE2(9992), CREBBP(1387), SIL1(64374), ATP8B1(5205), SLC12A6(9990), PFKFB1(5207), CPT2(1376), PDHA1(5160), COMP(1311), ENPP1(5167), COL17A1(1308), COL9A3(1299), PDGFB(5155), COL9A2(1298), NHP2(55651), COL9A1(1297), COL8A2(1296), PDGFRB(5159), COL11A2(1302), PDE6B(5158), TSFM(10102), COL11A1(1301), PDGFRL(5157), PDGFRA(5156), COL5A2(1290), COL6A1(1291), COL4A6(1288), COL5A1(1289), COL7A1(1294), COL6A2(1292), COL6A3(1293), GPC6(10082), COL4A1(1282), USH1C(10083), COL2A1(1280), COL3A1(1281), COL4A4(1286), COL4A5(1287), SLC26A4(5172), PEX26(55670), PQBP1(10084), COL4A3(1285), POMGNT1(55624), VPS13B(157680), COX6B1(1340), SLC39A4(55630), SPG21(51324), PCSK1(5122), FLVCR2(55640), MAP3K8(1326), COMT(1312), KLF6(1316), CHD7(55636), SLC25A15(10166), PLOD1(5351), SLC25A13(10165), CTH(1491), SERPINF2(5345), LPAR6(10161), PLP1(5354), CTNNB1(1499), PLOD2(5352), CTNS(1497), IYD(389434), CSTB(1476), ATP6AP2(10159), PMM2(5373), AASS(10157), NKX2-5(1482), OPTN(10133), PKP2(5318), LRPPRC(10128), PKLR(5313), PKHD1(5314), PLAG1(5324), PLAT(5327), VKORC1(79001), CYBA(1535), CYB5A(1528), PLA2G2A(5320), CTSD(1509), ENAM(10117), ARX(170302), MBTPS2(51360), CRELD1(78987), PLG(5340), CTSK(1513), POMP(51371), PLEC(5339), MBD5(55777), CD96(10225), PIK3CA(5290), LMBRD1(55788), CSF2RA(1438), PRKAG2(51422), CRYBA1(1411), CRYAB(1410), PITX1(5307), PRG4(10216), PKD2(5311), PKD1(5310), PITX3(5309), CRYGD(1421), MLPH(79083), PITX2(5308), HR(55806), ALG3(10195), PHEX(5251), VCAN(1462), PHKA1(5255), DCLRE1C(64421), PHKA2(5256), CDK5RAP2(55755), PHKB(5257), MCFD2(90411), CST3(1471), CSF3R(1441), SERPINA1(5265), PHYH(5264), PI3(5266), PIGA(5277), DDB1(1642), SH3TC2(79628), RET(5979), DDB2(1643), CENPJ(55835), DCX(1641), MMAA(166785), DDC(1644), VAPB(9217), DCK(1633), DCTN1(1639), ACE(1636), REN(5972), RENBP(5973), DCR(1637), RDX(5962), NOG(9241), PRPH2(5961), LRRK2(120892), GCM2(9247), REG1A(5967), CRLF1(9244), RDH5(5959), SPATA7(55812), RCVRN(5957), OPN1LW(5956), RHO(6010), GRK1(6011), DYNC2H1(79659), RHAG(6005), MCPH1(79648), MARVELD2(153562), RFX5(5993), RFXAP(5994), DBT(1629), DCC(1630), DAZ1(1617), DBH(1621), DBI(1622), NPHP4(261734), NDUFS7(374291), CYP11A1(1583), RARA(5914), CYP4V2(285440), GPR56(9289), RAPSN(5913), CYP27B1(1594), RAG2(5897), CYP27A1(1593), UROC1(131669), RAG1(5896), CYP21A2(1589), CYP19A1(1588), CYP17A1(1586), CYP11B2(1585), CYP11B1(1584), CYP2A6(1548), RBP4(5950), CYP1A2(1544), CYP1B1(1545), TRIP11(9321), CYLD(1540), CYP1A1(1543), NDUFAF4(29078), CYBB(1536), CYP2D6(1565), BBS10(79738), SNAP29(9342), FAM123B(139285), DOK7(285489), TGM5(9333), RB1(5925), CYP2C19(1557), ZFP57(346171), CYP2C9(1559), SLC25A22(79751), DMPK(1760), RPGR(6103), RP2(6102), RP1(6101), RP9(6100), KL(9365), DNM2(1785), ROM1(6094), DNMT3B(1789), DIAPH1(1729), OTOF(9381), DIO1(1733), GRHPR(9380), ZFHX4(79776), DLAT(1737), DKC1(1736), DLD(1738), CFC1(55997), MYH14(79784), DLX3(1747), RPE65(6121), RECQL4(9401), DMD(1756), HPS6(79803), DMP1(1758), EHMT1(79813), FLCN(201163), ACAD9(28976), CYP7B1(9420), RNASEL(6041), DHCR24(1718), RMRP(6023), DHFR(1719), DGUOK(1716), DHCR7(1717), DGCR(1714), OSTM1(28962), RLBP1(6017), CYB5R3(1727), SH3PXD2B(285590), ITM2B(9445), ALG1(56052), DECR1(1666), ROBLD3(28956), TIMM8A(1678), CFD(1675), EIF2AK3(9451), DES(1674), DFNA5(1687), RNF6(6049), ARHGEF6(9459), CHST3(9469), TBX4(9496), CLDN19(149461), MYOT(9499), BBS5(129880), EDNRA(1909), EDN3(1908), EDNRB(1910), EDA(1896), PTCH1(5727), TYMP(1890), ECM1(1893), WWOX(51741), PTGS1(5742), PTH(5741), PTGIS(5740), PTEN(5728), UPB1(51733), LITAF(9516), RAB23(51715), PTH1R(5745), DYT3(1863), TOR1A(1861), ADAMTS2(9509), PRSS1(5644), MINPP1(9562), PRPS2(5634), PSAP(5660), SLC26A2(1836), PSEN1(5663), HBEGF(1839), DSP(1832), PRTN3(5657), DSPP(1834), DSG1(1828), DSG2(1829), DSC2(1824), RELN(5649), TMPRSS15(5651), ANKH(56172), ATN1(1822), PSG1(5669), DRD2(1813), SLC26A3(1811), PSEN2(5664), DPYD(1806), DPYS(1807), DPEP1(1800), DPAGT1(1798), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), EPB42(2038), KLK4(9622), PEX5(5830), STOM(2040), PYGL(5836), PYGM(5837), ENG(2022), ENO3(2027), RSPO4(343637), SLC36A2(153201), ELK1(2002), ELN(2006), QDPR(5860), EMD(2010), IQCB1(9657), RAB27A(5873), ARHGEF10(9639), ELANE(1991), MRAP(56246), CDC73(79577), PTPN11(5781), EGFR(1956), EGR2(1959), EIF2B1(1967), ADAMTSL2(9719), PTPRJ(5795), NLRP3(114548), PTS(5805), EFNB1(1947), SUMF1(285362), SEMA3E(9723), KLHDC8B(200942), PVRL1(5818), PVR(5817), FBN1(2200), ADAMTSL4(54507), FBN2(2201), EFEMP1(2202), FBP1(2203), SPINK5(11005), CCBE1(147372), FBLN1(2192), SLC16A1(6566), EDARADD(128178), SLC16A2(6567), SLC22A5(6584), KCNQ1OT1(10984), FAH(2184), SNAI2(6591), FANCD2(2177), FANCC(2176), FANCE(2178), FECH(2235), SLC5A5(6528), NEUROG3(50674), SLC6A8(6535), FKTN(2218), SLC12A3(6559), SLC12A1(6557), PUS1(80324), WNT10A(80326), SNRPN(6638), FH(2271), LHX4(89884), FGFR1(2260), FGFR3(2261), FGFR2(2263), FGF14(2259), FGF10(2255), SOS1(6654), FGF3(2248), FGD1(2245), FGB(2244), SOD1(6647), EDAR(10913), FGA(2243), GDF6(392255), FES(2242), SMN1(6606), FOXC2(2303), FOXE3(2301), FOXI1(2299), SMCR(6600), FOXC1(2296), FOXF1(2294), SMARCB1(6598), ALOXE3(59344), TRPV4(59341), SNCA(6622), SNCB(6620), SMS(6611), SMPD1(6609), ERBB3(2065), ERBB2(2064), DEC1(50514), ERCC2(2068), SFTPB(6439), ERCC3(2071), EYA4(2070), ERCC5(2073), SFTPD(6441), ERCC4(2072), SGCB(6443), ERCC6(2074), SGCA(6442), SGCG(6445), SGSH(6448), EPHX1(2052), BLOC1S3(388552), SH3BP2(6452), CLN8(2055), SH3GL1(6455), SYCP3(50511), SPG11(80208), SOX18(54345), FTCD(10841), ETFDH(2110), ETFB(2109), ETFA(2108), WNT4(54361), OPA3(80207), GJB6(10804), EXT2(2132), SEPT9(10801), SIX3(6496), EXT1(2131), APOA5(116519), EWSR1(2130), CEP290(80184), SLC1A1(6505), EYA1(2138), SLC3A1(6519), SLC2A1(6513), SLC2A2(6514), SLC17A3(10786), ETV1(2115), SLC5A2(6524), GDAP1(54332), ETV6(2120), EVC(2121), SLC4A1(6521), SLC5A1(6523), SMARCAL1(50485), FRAS1(80144), F13B(2165), SHH(6469), F13A1(2162), F12(2161), F11(2160), FANCA(2175), TSEN54(283989), SI(6476), SHOX(6473), F2(2147), F9(2158), F10(2159), SIM1(6492), F8(2157), F7(2155), F5(2153), SCN5A(6331), SCN4A(6329), SCN9A(6335), NAGS(162417), SCN1A(6323), HPS5(11234), SLC6A19(340024), SCN2A(6326), RNF139(11236), ATXN7(6314), ATXN8OS(6315), ATXN1(6310), ATXN2(6311), SC5DL(6309), SALL1(6299), SAT1(6303), TSPAN31(6302), RAB39B(116442), CHEK2(11200), GNASAS(149775), NUP62(23636), DCAF17(80067), SAG(6295), FSHB(2488), FSHR(2492), SEC63(11231), TRAPPC2(6399), SLC6A20(54716), TREH(11181), LZTS1(11178), CNGB3(54714), SDHD(6392), SDHC(6391), SDHB(6390), SDHA(6389), PDP1(54704), AMACR(23600), PIKFYVE(200576), FUT1(2523), LEMD3(23592), PDSS1(23590), FUCA2(2519), FUCA1(2517), RASSF1(11186), FTL(2512), SLC37A4(2542), G6PD(2539), GLMN(11146), G6PC(2538), IL1RAPL1(11141), DARC(2532), SLC7A9(11136), GABRA3(2556), TMC8(147138), PANK2(80025), SCNN1G(6340), GAA(2548), UGT1A1(54658), SCNN1A(6337), SCNN1B(6338), LDB3(11155), FOXE1(2304), RPS4Y1(6192), FOXO1(2308), RPS6KA3(6197), FLG(2312), FLNC(2318), GRHL2(79977), FLNA(2316), FLNB(2317), FLT3(2322), FLT4(2324), FMO3(2328), RPS4X(6191), FN1(2335), AFF2(2334), FMR1(2332), TRIOBP(11078), KERA(11081), L2HGDH(79944), ADAMTS13(11093), RYR2(6262), RYR1(6261), EGLN1(54583), RS1(6247), FXN(2395), HYLS1(219844), RPS14(6208), HPS4(89781), RPS19(6223), TH(7054), PLCE1(51196), MERTK(10461), TGIF1(7050), GLUD1(2746), TGM1(7051), ATXN8(724066), TGFBR2(7048), TGFBR1(7046), GLRB(2743), CLN6(54982), GLRA1(2741), TGFBI(7045), TGFB3(7043), CRBN(51185), SLC25A38(54977), TGFB1(7040), GLI3(2737), DCXR(51181), GLE1(2733), THRB(7068), GLDC(2731), THRA(7067), THPO(7066), GCLC(2729), EMG1(10436), MYO15A(51168), GLB1(2720), TK2(7084), GLA(2717), GPC3(2719), NKX2-1(7080), CRTAP(10491), SEC23A(10484), TIMP2(7077), GK(2710), TIMP3(7078), GJB1(2705), GJB2(2706), SEC23B(10483), GJB3(2707), SLC9A6(10479), GJA8(2703), GJA5(2702), GJA1(2697), GHSR(2693), FST(10468), GIP(2695), GIF(2694), PROKR2(128674), GH1(2688), GHR(2690), SAR1B(51128), GP1BA(2811), GP9(2815), GP1BB(2812), NDRG1(10397), COL18A1(80781), GNS(2799), GNRHR(2798), TUBB3(10381), SBDS(51119), GNRH1(2796), TNFRSF1A(7132), TNF(7124), ABHD5(51099), GNAS(2778), TNXB(7148), TNNI2(7136), TNNI3(7137), TNNT1(7138), GNAI2(2771), TNNT2(7139), TNNT3(7140), SDHAF2(54949), GM2A(2760), TPBG(7162), TPI1(7167), TP53(7157), SDHAF1(644096), TBXAS1(6916), ATL1(51062), TBX15(6913), HNF1A(6927), GATA1(2623), TBX3(6926), CC2D1A(54862), GARS(2617), GALT(2592), HNF1B(6928), GAMT(2593), TCIRG1(10312), TCOF1(6949), GALC(2581), TCN2(6948), GALE(2582), BCOR(54880), GALNS(2588), GALNT3(2591), GALK1(2584), TRA@(6955), MKS1(54903), GABRG2(2566), SLC22A12(116085), MRPS16(51021), WHSC1L1(54904), GAD1(2571), GGCX(2677), B4GALT1(2683), NLRP7(199713), ZMPSTE24(10269), GPHN(10243), GDF1(2657), AHI1(54806), DYM(54808), TEAD1(7003), SAMD9(54809), GDI1(2664), GFAP(2670), TECTA(7007), GDNF(2668), GCH1(2643), TEK(7010), GCK(2645), TERC(7012), TERT(7015), SOST(50964), TF(7018), GCSH(2653), TFAP2B(7021), OPN1MW(2652), TFAP2A(7020), GATA3(2625), TBX22(50945), GBA(2629), TFE3(7030), GBE1(2632), APTX(54840), TG(7038), TGFA(7039), GCDH(2639), GULOP(2989), GUSB(2990), GUCA1A(2978), FOXP3(50943), PDE11A(50940), GUCY2D(3000), CDKL5(6792), STK11(6794), USH1G(124590), AURKC(6795), FOXP2(93986), GYS2(2998), ELOVL4(6785), CANT1(124583), MSH6(2956), SURF1(6834), MYLK2(85366), ABCC8(6833), RAI1(10743), SUOX(6821), HBQ1(3049), TAF1(6872), HBG2(3048), HBZ(3050), SERPIND1(3053), HCCS(3052), HBA2(3040), HBB(3043), TAC3(6866), HBD(3045), CYP2R1(120227), HBG1(3047), TACR3(6870), HBE1(3046), HTT(3064), SPINT2(10653), HCRT(3060), SYN1(6853), SYP(6855), SERPINA7(6906), TBCE(6905), TBX5(6910), TBP(6908), TBX1(6899), ATCAY(85300), TAZ(6901), EBP(10682), TAP1(6890), DLL3(10683), TAP2(6891), HADHB(3032), HADH(3033), BBS7(55212), CLDN16(10686), HBA1(3039), DHH(50846), TAPBP(6892), AGRN(375790), HADHA(3030), TAL1(6886), HSD17B10(3028), HAGH(3029), SLC19A2(10560), SPG7(6687), SLC34A2(10568), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), SOX3(6658), NSDHL(50814), GPX1(2876), POMT1(10585), ANO5(203859), SPTB(6710), SPTA1(6708), GPI(2821), PRPF8(10594), AKR1D1(6718), D2HGDH(728294), SRD5A2(6716), SPTBN2(6712), PNPO(55163), GFM1(85476), SPINK1(6690), THAP1(55145), SPR(6697), SRY(6736), GRM6(2916), GRPR(2925), FBLN5(10516), GSN(2934), GSS(2937), GSR(2936), STAR(6770), ST14(6768), STAT3(6774), STAT1(6772), SSTR5(6755), GRN(2896), SLC34A3(142680), AGPAT2(10555), SLC35A1(10559), SPTLC1(10558), NR3C1(2908), MMADHC(27249), HSD17B3(3293), HSD17B4(3295), H19(283120), HSD11B2(3291), GNMT(27232), HRAS(3265), COQ2(27235), DOLK(22845), HRG(3273), BBS9(27241), HSPB1(3315), HSF4(3299), ZNF35(7584), DISC2(27184), ZNF41(7592), KCTD7(154881), HOXA11(3207), HOXA13(3209), ASPM(259266), C8orf38(137682), CNBP(7555), HPRT1(3251), HPGD(3248), HPS1(3257), HOXD13(3239), FASTKD2(22868), HOXD10(3236), GNPTG(84572), HPD(3242), ZAP70(7535), TRIM32(22954), CCT5(22948), HMGCL(3155), ZFY(7544), HMBS(3145), ZIC1(7545), ZIC3(7547), FAM126A(84668), HLCS(3141), ZFX(7543), HOXA2(3199), TLX1(3195), XDH(7498), WT2(7491), WT1(7490), VMA21(203547), KISS1R(84634), RPIA(22934), XPC(7508), ZNF469(84627), HNF4A(3172), RAB3GAP1(22930), XPA(7507), WHCR(7467), HK1(3098), WFS1(7466), WHSC1(7468), WNT10B(7480), HGD(3081), HGF(3082), WRN(7486), BEAN(146227), WNT3(7473), HEXA(3073), HEXB(3074), CFH(3075), WNT7A(7476), HFE(3077), BEST1(7439), VLDLR(7436), HLA-DRA(3122), VHL(7428), VWF(7450), WAS(7454), GORAB(92344), MCEE(84693), VRK1(7443), HLA-A(3105), MNX1(3110), VCP(7415), VDR(7421), USH2A(7399), IHH(3549), CLRN1(7401), UQCRB(7381), UPK3A(7380), SLC2A10(81031), UROD(7389), UROS(7390), IL2RG(3561), UQCRC1(7384), IL3RA(3563), UMPS(7372), UNG(7374), UMOD(7369), IFNGR1(3459), UCHL1(7345), IGF1(3479), IGBP1(3476), IGF1R(3480), UBE3A(7337), TTC8(123016), LMNB2(84823), UBB(7314), UBA1(7317), IGHG1(3500), TYR(7299), IGHMBP2(3508), TTBK2(146057), CDAN1(146059), TYROBP(7305), TYRP1(7306), IGKC(3514), DIRC2(84925), TWIST1(7291), TULP1(7287), IDS(3423), TTR(7276), TTPA(7274), TTN(7273), TST(7263), TSPYL1(7259), TSHB(7252), TSHR(7253), SP110(3431), TSC1(7248), TSC2(7249), CFI(3426), HSPG2(3339), TRPS1(7227), BCMO1(53630), HSPD1(3329), TRH(7200), MMAB(326625), HYAL1(3373), TPM2(7169), TPM1(7168), TPM3(7170), TPO(7173), MASTL(84930), TPMT(7172), GAN(8139), SATB2(23314), BRIP1(83990), KIT(3815), ADAMTS10(81794), RPGRIP1L(23322), KLKB1(3818), SBF2(81846), KHK(3795), KIF5A(3798), TMPRSS6(164656), KCNMA1(3778), KCNQ2(3785), VANGL1(81839), KCNQ1(3784), KCNQ3(3786), KDR(3791), KCNJ11(3767), ARHGEF12(23365), FGF23(8074), KCNJ13(3769), MED25(81857), AAAS(8086), KCNC3(3748), KCNJ2(3759), KCNJ1(3758), KCNH2(3757), GPR98(84059), KCNE1(3753), DTNBP1(84062), CD82(3732), JUP(3728), KAL1(3730), DICER1(23405), KCNA1(3736), ATP13A2(23400), PABPN1(8106), JAK2(3717), IGHR(8117), ZFPM2(23414), IVD(3712), TCL1A(8115), MLYCD(23417), CRB1(23418), AMN(81693), ITPR1(3708), ZIC4(84107), ARL6(84100), B4GALT7(11285), ITGB3(3690), ITGB4(3691), ITGB2(3689), CCDC6(8030), NCOA4(8031), MLLT10(8028), TREX1(11277), CUBN(8029), ALS2(57679), LHX3(8022), NUP214(8021), ITGA2(3673), ITGA2B(3674), TMC6(11322), IRF6(3664), PARK7(11315), PRX(57716), IRF1(3659), DOCK8(81704), CSRP3(8048), PDHX(8050), PDX1(3651), ETHE1(23474), ISCU(23479), ITGA6(3655), ZFYVE26(23503), INSR(3643), INSL3(3640), TNFRSF13B(23495), INS(3630), EPM2A(7957), ING1(3621), TNDM(7952), HGSNAT(138050), IMPDH1(3614), CLCF1(23529), SHFM1(7979), ATP6V0A2(23545), IL12B(3593), GJB4(127534), LYL1(4066), LYZ(4069), SH2D1A(4068), TACSTD2(4070), SETX(23064), MANF(7873), RAB7A(7879), SMAD4(4089), SMAD9(4093), NIPA1(123606), KIF1B(23095), LRP2(4036), LRP5(4041), ISCW(7928), VSX1(30813), ALDH5A1(7915), LTC4S(4056), LMNB1(4001), LMNA(4000), NPHS2(7827), C1QTNF5(114902), LOX(4015), LOR(4014), NHLRC1(378884), LMX1B(4010), SPG20(23111), LPL(4023), PHF6(84295), BSND(7809), LPA(4018), TREM2(54209), NLGN4X(57502), LPP(4026), LHCGR(3973), LHB(3972), HPS3(84343), LIFR(3977), LIPC(3990), TUBA1A(7846), PCDH19(57526), LIPA(3988), ALMS1(7840), MOGS(7841), LMAN1(3998), CXCR4(7852), PAX8(7849), LDLR(3949), LCT(3938), SLC35D1(23169), UQCRQ(27089), LPIN1(23175), LAMB3(3914), PLEKHG5(57449), LAMB1(3912), LAMB2(3913), LAMC2(3918), VPS13A(23230), LAMA2(3908), LAMA3(3909), INVS(27130), LCAT(3931), LBR(3930), MLC1(23209), LAMP2(3920), KRT81(3887), ZBTB16(7704), DNAI1(27019), KRT17(3872), ATP2C1(27032), L1CAM(3897), KRT86(3892), MLH3(27030), FREM2(341640), NPHP3(27031), KRT83(3889), KRT85(3891), KRT6B(3854), KRT5(3852), KRT6A(3853), KRT3(3850), NKX2-6(137814), KRT4(3851), KRT1(3848), KRT2(3849), KRAS(3845), AICDA(57379), DUOXA2(405753), KRT16(3868), SLITRK1(114798), KRT14(3861), KRT13(3860), KRT12(3859), KRT10(3858), KRT9(3857)]
ALL CASES SPORADIC(HP:0003769)	[GJA1(2697)]
ALMOST COMPLETE COLORBLINDNESS EXCEPT ABILITY TO SEE BLUE(HP:0007939)	[OPN1MW(2652), OPN1LW(5956)]
ALOPECIA(HP:0001596)	[BTD(686), KRT81(3887), TINF2(26277), LMNA(4000), CLDN1(9076), MCCC2(64087), VDR(7421), BCS1L(617), AIRE(326), IKBKG(8517), COL7A1(1294), DSP(1832), RAG2(5897), RAG1(5896), NSDHL(50814), HLCS(3141), KRT86(3892), COL3A1(1281), KRT83(3889), HFE(3077), HR(55806), ACVR1(90), SLC39A4(55630), TERC(7012), SAT1(6303), TERT(7015), DCLRE1C(64421), TP63(8626), UROD(7389), DKC1(1736), PORCN(64840), PEX7(5191), UROS(7390), DCAF17(80067), OFD1(8481), KDM5C(8242), ALMS1(7840), FST(10468), RECQL4(9401), KRT14(3861), AR(367), PLEC(5339)]
ALOPECIA AREATA(HP:0002229)	[KDM5C(8242)]
ALOPECIA OF SCALP(HP:0002293)	[SLC39A4(55630), TP63(8626), KRT14(3861), COL3A1(1281), PLEC(5339)]
ALOPECIA, COMPLETE(HP:0002289)	[VDR(7421)]
ALOPECIA, COMPLETE, IN MAJORITY OF PATIENTS(HP:0004550)	[VDR(7421)]
ALPHA-THALASSEMIA WITH MICROCYTOSIS(HP:0005507)	[HBA1(3039)]
ALSO A DOMINANT FORM(HP:0001448)	[GJA1(2697), SCNN1G(6340), SCNN1A(6337), SCNN1B(6338)]
ALVEOLAR CELL CARCINOMA(HP:0006519)	[ERBB2(2064), SFTPA2(729238), PIK3CA(5290), KRAS(3845), BRAF(673), EGFR(1956), IRF1(3659), SLC22A18(5002), PARK2(5071), MAP3K8(1326), DLEC1(9940), RASSF1(11186), PPP2R1B(5519)]
ALVEOLAR HYPOVENTILATION(HP:0004892)	[DCTN1(1639)]
ALVEOLAR RHABDOMYOSARCOMA(HP:0006779)	[PAX7(5081), FOXO1(2308), PAX3(5077)]
ALVEOLAR RIDGE OVERGROWTH(HP:0009085)	[DHCR24(1718), CD96(10225), TBX15(6913)]
ALZHEIMER DISEASE(HP:0002511)	[PSEN1(5663), APP(351), GATA1(2623), APOE(348), DCR(1637)]
AMBIGUOUS EXTERNAL GENITALIA(HP:0008693)	[LHB(3972), CYP19A1(1588)]
AMBIGUOUS GENITALIA(HP:0000062)	[LHB(3972), DYNC2H1(79659), TBX15(6913), TSPYL1(7259), SRD5A2(6716), WT1(7490), DHCR24(1718), MKS1(54903), DHCR7(1717), BUB1B(701), POR(5447), CYP19A1(1588), CYP17A1(1586), SC5DL(6309), CYP11B1(1584)]
AMBIGUOUS GENITALIA DUE TO VIRILIZATION(HP:0008690)	[CYP11B1(1584)]
AMBIGUOUS GENITALIA, FEMALE(HP:0000061)	[DHCR24(1718), MKS1(54903), TBX15(6913), WT1(7490)]
AMBIGUOUS GENITALIA, MALE(HP:0000033)	[DHCR24(1718), MKS1(54903), TBX15(6913), TSPYL1(7259), SRD5A2(6716), WT1(7490), SC5DL(6309)]
AMBLYOPIA(HP:0000646)	[NPHP4(261734), DGCR(1714), TUBB3(10381), TBX1(6899), COL4A1(1282), PTEN(5728), PHOX2A(401)]
AMEGAKARYOCYTIC THROMBOCYTOPENIA(HP:0004859)	[PTPN11(5781), MPL(4352)]
AMELIA(HP:0009827)	[WNT3(7473)]
AMELOGENESIS IMPERFECTA(HP:0000705)	[ENAM(10117), DLX3(1747), KLK4(9622), CNNM4(26504), AMELX(265), LAMA3(3909)]
AMELOGENESIS IMPERFECTA, HYPOMATURATION-HYPOPLASIA TYPE(HP:0006284)	[DLX3(1747)]
AMELOGENESIS IMPERFECTA, HYPOPLASTIC(HP:0006331)	[ENAM(10117), AMELX(265)]
AMENORRHEA(HP:0000141)	[SRY(6736), RET(5979), SNRPN(6638), PROK2(60675), FGFR1(2260), NELF(26012), TAC3(6866), POLG(5428), TACR3(6870), EIF2B2(8892), EIF2B5(8893), NDN(4692), EIF2B4(8890), EIF2B3(8891), EIF2B1(1967), CYP19A1(1588), HFE(3077), CYP17A1(1586), UPK3A(7380), PPARG(5468), PCSK1(5122), WT1(7490), FSHB(2488), FOXL2(668), PPP1R3A(5506), KISS1R(84634), FSHR(2492), WNT4(54361), FST(10468), AR(367), CHD7(55636), BMPR1B(658)]
AMINOACIDURIA(HP:0002903)	[PEX19(5824), SLC6A20(54716), SUCLG1(8802), SLC19A2(10560), MMADHC(27249), PEX5(5830), OCRL(4952), BCS1L(617), PRODH(5625), LMBRD1(55788), SLC6A19(340024), ALDH4A1(8659), CTNS(1497), DGUOK(1716), SLC3A1(6519), MTHFR(4524), CYP27B1(1594), GALT(2592), SLC2A2(6514), UQCRQ(27089), AASS(10157), CBS(875), SLC36A2(153201), PEX26(55670), UQCRB(7381), TK2(7084), GALE(2582), CLCN5(1184), COX6B1(1340), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), ALDOB(229), ARG1(383), PEX3(8504), ETFDH(2110), SLC7A9(11136), MMACHC(25974), ETFB(2109), ETFA(2108), C10orf2(56652), MPV17(4358), FASTKD2(22868), MTRR(4552), ATP7B(540), CASR(846)]
AMNIOTIC BANDS(HP:0009775)	[FERMT1(55612), LOR(4014), POMP(51371), GJB2(2706)]
AMYLOID DEPOSITION IN THE VITREOUS HUMOR(HP:0007841)	[TTR(7276)]
AMYOTROPHIC LATERAL SCLEROSIS(HP:0007354)	[PSEN1(5663), ALS2(57679), SETX(23064), MAPT(4137)]
AMYOTROPHY(HP:0003202)	[VCP(7415), BIN1(274), FKRP(79147), MYOT(9499), SACS(26278), SETX(23064), MCCC2(64087), GAN(8139), CAPN3(825), DCTN1(1639), TGFB1(7040), SLC16A2(6567), GLE1(2733), SLC7A7(9056), ABCA1(19), MYH7(4625), RAB7A(7879), GNE(10020), TYMP(1890), ATXN1(6310), ATXN2(6311), GLB1(2720), SBF2(81846), TK2(7084), YARS(8565), SEPN1(57190), HSPB1(3315), KIF1B(23095), ACADSB(36), DYSF(8291), AIP(9049), SLC9A6(10479), C20orf7(79133), MPZ(4359), LITAF(9516), SIL1(64374), PUS1(80324), SLC12A6(9990), NAGA(4668), TCAP(8557), MANBA(4126), ATP7A(538), LMNA(4000), RAPSN(5913), NDRG1(10397), MECP2(4204), POLG(5428), PRPS2(5634), MED25(81857), COL6A1(1291), SPG20(23111), HSPB8(26353), NDUFA1(4694), COL6A2(1292), COL6A3(1293), BSCL2(26580), SMN1(6606), CAV3(859), TNNT1(7138), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), TRPV4(59341), NDUFV1(4723), NDUFS2(4720), KDM5C(8242), IGHMBP2(3508), NDUFS6(4726), DOK7(285489), NDUFS4(4724), AGRN(375790), AR(367), PMP22(5376), ERBB3(2065), SLC19A2(10560), TRIM32(22954), NEFL(4747), CCT5(22948), SGCB(6443), PRPS1(5631), SGCA(6442), SGCG(6445), PLP1(5354), NDUFAF2(91942), GARS(2617), FLNA(2316), CTNS(1497), SOX10(6663), ATXN3(4287), ADSL(158), ALS2(57679), DNM2(1785), NEU1(4758), PLEKHG5(57449), NDUFAF3(25915), VPS13A(23230), SPG11(80208), EMD(2010), MTMR2(8898), VMA21(203547), PRX(57716), AGL(178), LAMP2(3920), HSPG2(3339), ZFYVE26(23503), RYR1(6261), INSR(3643), EGR2(1959), GDAP1(54332), HEXB(3074), MFN2(9927), PHKA1(5255), TIMM8A(1678), DES(1674), MMP2(4313), GBE1(2632), APTX(54840), TPM3(7170)]
AMYOTROPHY INVOLVING THE EXTREMITIES(HP:0003671)	[TRPV4(59341), ABCA1(19), KDM5C(8242), LMNA(4000), DYSF(8291), ALS2(57679), PRPS1(5631), DCTN1(1639), PRPS2(5634)]
AMYOTROPHY INVOLVING THE LOWER LIMBS(HP:0003746)	[KDM5C(8242), LMNA(4000), DYSF(8291), PRPS1(5631), DCTN1(1639), PRPS2(5634)]
AMYOTROPHY INVOLVING THE MUSCULATURE OF THE HAND(HP:0009130)	[TRPV4(59341), ABCA1(19), ALS2(57679), DCTN1(1639)]
AMYOTROPHY INVOLVING THE SHOULDER MUSCULATURE(HP:0001465)	[MYH7(4625)]
AMYOTROPHY INVOLVING THE UPPER LIMBS(HP:0009129)	[TRPV4(59341), ABCA1(19), ALS2(57679), DCTN1(1639)]
AMYOTROPHY OF THE THIGH MUSCULATURE(HP:0003748)	[LMNA(4000)]
AMYOTROPHY, DISTAL, SEVERE(HP:0006786)	[SACS(26278)]
ANAL ATRESIA(HP:0002023)	[PRSS1(5644), FKRP(79147), MKKS(8195), LARGE(9215), HCCS(3052), GATA1(2623), SALL4(57167), TBX3(6926), NBN(4683), GLI3(2737), DCR(1637), MED12(9968), MID1(4281), WNT3(7473), UBR1(197131), POMT1(10585), PQBP1(10084), PITX2(5308), SALL1(6299), PTEN(5728), SEMA3E(9723), FKTN(2218), MKS1(54903), HOXD13(3239), RECQL4(9401), MNX1(3110), CHD7(55636), POMT2(29954)]
ANAL MUCOSAL LEUKOPLAKIA(HP:0005212)	[DKC1(1736)]
ANAL STENOSIS(HP:0002025)	[MED12(9968), SALL1(6299), SALL4(57167), TBX3(6926), NBN(4683), MNX1(3110), SEMA3E(9723), CHD7(55636), PITX2(5308)]
ANARTHRIA(HP:0002425)	[ALS2(57679), ATP13A2(23400)]
ANDROGEN INSUFFICIENCY(HP:0008226)	[GNRHR(2798)]
ANEMIA(HP:0001903)	[PGK1(5230), ATRX(546), CPOX(1371), MMAA(166785), TINF2(26277), MMADHC(27249), SH2D1A(4068), ATR(545), ANK1(286), SLC25A38(54977), SLC11A2(4891), DNAJC19(131118), TGFB1(7040), GLRX5(51218), FOXP3(50943), CP(1356), SLC7A7(9056), NPHP1(4867), GCLC(2729), STK11(6794), ABCB7(22), FANCD2(2177), FANCC(2176), SMAD4(4089), FANCE(2178), FECH(2235), GLA(2717), LYST(1130), PSTPIP1(9051), UROS(7390), NT5C3(51251), RHAG(6005), SEC23B(10483), TMPRSS6(164656), PFKM(5213), MPL(4352), UMPS(7372), PUS1(80324), ATP7B(540), GIF(2694), NPHP4(261734), GP1BA(2811), HBA2(3040), NHP2(55651), HBB(3043), NBN(4683), HBG1(3047), COL7A1(1294), HOXA11(3207), SBDS(51119), RAG2(5897), RAG1(5896), ACVRL1(94), HPRT1(3251), ADA(100), TBCE(6905), COX6B1(1340), G6PD(2539), IVD(3712), HBA1(3039), FASTKD2(22868), TPI1(7167), CDAN1(146059), FAS(355), CASP10(843), CASR(846), SMPD1(6609), AMN(81693), TBXAS1(6916), CD40LG(959), SLC19A2(10560), EPB42(2038), STOM(2040), GATA1(2623), GALT(2592), CUBN(8029), ENG(2022), SLC46A1(113235), GPX1(2876), AASS(10157), FMO3(2328), TCIRG1(10312), TCN2(6948), SPTA1(6708), GPI(2821), ABCG8(64241), PKLR(5313), ABCG5(64240), DKC1(1736), CD247(919), FTCD(10841), PNPO(55163), LCAT(3931), BPGM(669), ADAMTS13(11093), BMPR1A(657), ISCU(23479), PLEC(5339), TNFSF11(8600), HK1(3098), WFS1(7466), AK1(203), MVK(4598), LMBRD1(55788), RMRP(6023), DHFR(1719), CA2(760), NME1(4830), ALAS2(212), GSS(2937), GSR(2936), CFH(3075), SLC4A1(6521), PHGDH(26227), ALAD(210), NOP10(55505), SMARCAL1(50485), MMAB(326625), TERC(7012), TERT(7015), DCLRE1C(64421), FANCA(2175), TF(7018), ALDOA(226), MMACHC(25974), PCCB(5096), WAS(7454), GBA(2629), RPS14(6208), MTRR(4552), PNP(4860), RPS19(6223), MTR(4548), PCCA(5095)]
ANEMIA CORRECTED BY URIDYLIC ACID AND CYTIDYLIC ACID(HP:0003339)	[UMPS(7372)]
ANEMIA, DYSERYTHROPOIETIC(HP:0005501)	[GATA1(2623)]
ANEMIC PALLOR(HP:0001017)	[FANCD2(2177), FANCA(2175), FANCC(2176), FANCE(2178)]
ANENCEPHALY(HP:0002323)	[MKS1(54903), FLVCR2(55640), TBX15(6913), RPGRIP1L(23322), VANGL1(81839), HYLS1(219844), SEMA3E(9723), CHD7(55636)]
ANEURYSM(HP:0002617)	[FBN1(2200), MED12(9968), MYH11(4629), FBLN5(10516), EFEMP2(30008), ENG(2022), GAA(2548), TGFBR1(7046), LOX(4015), COL3A1(1281), PKD2(5311), PKD1(5310)]
ANGINA PECTORIS(HP:0001681)	[LIPC(3990), GLA(2717), TTR(7276), LMNA(4000), ABCC6(368), CYP27A1(1593), APOE(348)]
ANGIOFIBROMAS(HP:0010615)	[MEN1(4221), TSC1(7248), TSC2(7249)]
ANGIOID STREAKS(HP:0001102)	[ABCC6(368), TNFRSF11B(4982), KL(9365), GALNT3(2591), PTEN(5728), FGF23(8074)]
ANGIOKERATOMA(HP:0001014)	[GLA(2717), AGA(175), NAGA(4668), FUCA1(2517), PTEN(5728), MANBA(4126), GLB1(2720)]
ANGIOKERATOMA CORPORIS DIFFUSUM(HP:0001071)	[AGA(175), NAGA(4668), GLB1(2720)]
ANHIDROSIS(HP:0000970)	[WNK1(65125), EDA(1896), NTRK1(4914), ERCC8(1161), FUCA1(2517), NGF(4803), ERCC6(2074)]
ANIRIDIA(HP:0000526)	[TYR(7299), FOXE3(2301), PAX6(5080), PORCN(64840), PITX2(5308)]
ANISOPOIKILOCYTOSIS(HP:0004823)	[SC5DL(6309)]
ANISOSPONDYLY(HP:0002879)	[TRPV4(59341), HSPG2(3339)]
ANKLE OR KNEE CLONUS(HP:0002325)	[KIF5A(3798)]
ANKYLOBLEPHARON(HP:0009755)	[RAX(30062), TP63(8626), IRF6(3664)]
ANKYLOSIS OF FEET SMALL JOINTS(HP:0008090)	[MMP2(4313)]
ANNULAR PANCREAS(HP:0001734)	[MYCN(4613), RECQL4(9401)]
ANODONTIA(HP:0000674)	[EDAR(10913), PVRL1(5818), EDARADD(128178)]
ANOMALOUS FIFTH METATARSAL(HP:0008089)	[FLNA(2316)]
ANOMALOUS PULMONARY VENOUS RETURN(HP:0010772)	[DHCR24(1718), CECR(1055)]
ANOMALOUS SPLENOPORTAL VENOUS SYSTEM(HP:0005201)	[RECQL4(9401)]
ANOMALOUS TRACHEAL CARTILAGE(HP:0004468)	[FGFR2(2263)]
ANONYCHIA(HP:0001798)	[LBR(3930), ITGB4(3691), TP63(8626), PORCN(64840), RSPO4(343637), LMX1B(4010), ITGA6(3655)]
ANOPHTHALMIA(HP:0000528)	[FRAS1(80144), BMP4(652), SHH(6469), SOX2(6657), RAX(30062), PORCN(64840), STRA6(64220), FREM2(341640), SEMA3E(9723), TFAP2A(7020), CHD7(55636)]
ANOPHTHALMIA, CLINICAL(HP:0001485)	[BMP4(652), SOX2(6657), RAX(30062), STRA6(64220), SEMA3E(9723), CHD7(55636)]
ANOREXIA(HP:0002039)	[TTR(7276), ALPL(249), ARG1(383)]
ANORMALITY OF THE GINGIVA(HP:0000168)	[GP1BA(2811), CD40LG(959), INSR(3643), CCBE1(147372), HPS5(11234), SLC35C1(55343), ITGB3(3690), DHCR24(1718), ITGB2(3689), SOS1(6654), BLOC1S3(388552), MAPK10(5602), FAM20C(56975), SAMD9(54809), DTNBP1(84062), GLB1(2720), SC5DL(6309), ITGA2B(3674), LYST(1130), HPS3(84343), HPS1(3257), ROR2(4920), TSC1(7248), TSC2(7249), LBR(3930), ANTXR2(118429), AP3B1(8546), MMP2(4313), SLC17A5(26503), ALMS1(7840), HPS4(89781), CTSC(1075), F10(2159), PLG(5340), MAN2B1(4125), HPS6(79803), MGAT2(4247), ADAMTS2(9509)]
ANOSMIA(HP:0000458)	[PHYH(5264), SHH(6469), MFN2(9927), SCN9A(6335), ARSE(415), KAL1(3730), DNAI1(27019), FGFR1(2260), PEX7(5191), PROKR2(128674)]
ANTECUBITAL PTERYGIUM(HP:0009760)	[CHRNG(1146), LMX1B(4010)]
ANTEGONIAL NOTCHING OF MANDIBLE(HP:0003779)	[KCNJ2(3759), FLNA(2316)]
ANTENATAL INTRACEREBRAL HEMORRHAGE(HP:0007023)	[CPT2(1376)]
ANTERIOR AND POSTERIOR RIB FLARING(HP:0006635)	[LBR(3930)]
ANTERIOR BASAL ENCEPHALOCELE(HP:0006992)	[ALX3(257)]
ANTERIOR BEAKING OF LOWER THORACIC AND LUMBAR VERTEBRAE(HP:0004607)	[GUSB(2990)]
ANTERIOR BEAKING OF THORACIC AND LUMBAR VERTEBRAE(HP:0004630)	[FUCA1(2517)]
ANTERIOR BEAKING OF VERTEBRAL BODIES(HP:0003313)	[ARSB(411), GUSB(2990), AGA(175), COMP(1311), NPR2(4882), DYM(54808), COL2A1(1280), FUCA1(2517), GLB1(2720)]
ANTERIOR BOWING OF LONG BONES(HP:0006473)	[HSPG2(3339)]
ANTERIOR BOWING OF TIBIA(HP:0006390)	[SOX9(6662)]
ANTERIOR BULGING OF THE GLOBE(HP:0000644)	[FBN1(2200), ABCA12(26154), INSR(3643), TGFBR1(7046), FGFR1(2260), FGFR2(2263), COL11A2(1302), BRAF(673), TGFB1(7040), FLNA(2316), MAP2K1(5604), MAP2K2(5605), THRB(7068), SH3BP2(6452), ATXN3(4287), FAM20C(56975), SH3PXD2B(285590), SOST(50964), CRTAP(10491), KRAS(3845), NIPBL(25836), PEPD(5184), MMP2(4313), ALPL(249), POR(5447), LEPRE1(64175)]
ANTERIOR CHAMBER CLEAVAGE DISORDER(HP:0007700)	[B3GALTL(145173)]
ANTERIOR CHAMBER MALFORMATION(HP:0007699)	[FKRP(79147), FKTN(2218), LARGE(9215), POMT1(10585), POMT2(29954)]
ANTERIOR CLEFTING OF VERTEBRAL BODIES(HP:0009761)	[CHRNG(1146)]
ANTERIOR CONCAVITY OF THORACIC VERTEBRAE(HP:0004611)	[SH3PXD2B(285590), FLNA(2316)]
ANTERIOR CORNEAL LENS OPACITIES(HP:0007844)	[FLNB(2317)]
ANTERIOR FLATTENING AND/OR BEAKING OF VERTEBRAE(HP:0004577)	[COMP(1311)]
ANTERIOR FONTANELLE OPEN IN ADULTS(HP:0004475)	[RUNX2(860)]
ANTERIOR OPENBITE MALOCCLUSION(HP:0009102)	[ENAM(10117)]
ANTERIOR PITUITARY HYPOPLASIA(HP:0008238)	[SOX2(6657)]
ANTERIOR POLAR CATARACT(HP:0001134)	[HSF4(3299)]
ANTERIOR RIB CUPPING(HP:0000907)	[DDR2(4921)]
ANTERIOR RIB PUNCTATE CALCIFICATIONS(HP:0006619)	[LBR(3930)]
ANTERIOR ROUNDING OF VERTEBRAL BODIES(HP:0008488)	[TBX15(6913)]
ANTERIOR SACRAL MENINGOCELE(HP:0007293)	[VANGL1(81839), MNX1(3110)]
ANTERIOR SEGMENT OCULAR DYSGENESIS(HP:0007696)	[FOXE3(2301), PITX3(5309)]
ANTERIOR SEGMENT OF EYE APLASIA(HP:0007779)	[FOXE3(2301)]
ANTERIOR WEDGING OF L1 AND L2(HP:0008432)	[ARSB(411)]
ANTERIOR/LATERAL RADIAL HEAD DISLOCATION(HP:0005050)	[GPC6(10082)]
ANTERIORLY DISPLACED GENITALIA(HP:0003252)	[WNT7A(7476)]
ANTERIORLY PLACED ANUS(HP:0001545)	[MED12(9968), HCCS(3052), PORCN(64840), RECQL4(9401), FGFR2(2263), UBR1(197131)]
ANTERIORLY PLACED ODONTOID PROCESS(HP:0004608)	[FLNA(2316)]
ANTERIORLY SPLAYED RIBS(HP:0006601)	[PTCH1(5727), COL2A1(1280)]
ANTINUCLEAR ANTIBODY POSITIVE(HP:0003493)	[MMP2(4313), TREX1(11277), FAS(355), CASP10(843)]
ANTITHROMBIN III DEFICIENCY(HP:0001976)	[MPI(4351), SERPINC1(462), ALG6(29929), PMM2(5373), DPM1(8813), MGAT2(4247)]
ANXIETY(HP:0000739)	[ATP1A3(478), PRNP(5621), PPP2R2B(5521), CPOX(1371), VPS13A(23230), SGCE(8910), SDHD(6392), SDHC(6391), SDHB(6390), DRD2(1813), SERPING1(710), PINK1(65018), PDE11A(50940), CLN3(1201), PRKAR1A(5573), HMBS(3145), JPH3(57338), ALDH5A1(7915), IGF1R(3480), PAK3(5063)]
ANXIETY (WITH PHEOCHROMOCYTOMA)(HP:0000740)	[SDHD(6392), SDHC(6391)]
AORTA ARISES FROM RIGHT VENTRICLE(HP:0005298)	[CRELD1(78987)]
AORTIC ANEURYSMS(HP:0004942)	[FBN1(2200), MED12(9968), MYH11(4629), FBLN5(10516), EFEMP2(30008), TGFBR1(7046), LOX(4015)]
AORTIC DILATATION(HP:0001724)	[FBN1(2200), FBN2(2201), EFEMP2(30008), TGFBR1(7046), LOX(4015), FLNB(2317), MED12(9968), COL5A2(1290), MYH11(4629), HGD(3081), COL5A1(1289), FBLN5(10516), COL1A2(1278), COL1A1(1277)]
AORTIC DISSECTION(HP:0002647)	[FBN1(2200), MYH11(4629), TGFBR1(7046)]
AORTIC INSUFFICIENCY(HP:0001659)	[FBN1(2200), ELN(2006), SLC2A10(81031), FBLN5(10516), COL1A2(1278), GNPTG(84572), D2HGDH(728294), GNPTAB(79158)]
AORTIC ROOT DILATATION(HP:0002616)	[FBN1(2200), COL5A2(1290), FBN2(2201), COL5A1(1289), COL1A1(1277)]
AORTIC STENOSIS(HP:0001650)	[FBN1(2200), ADAMTSL2(9719), ELN(2006), EFEMP2(30008), CAV3(859), LOX(4015), MYLK2(85366), PTPN11(5781), ESCO2(157570), SLC25A4(291), FBLN5(10516), GBA(2629), MYH7(4625), GNPTG(84572), NPHP3(27031)]
AORTIC STENOSIS DUE TO CALCIFICATIONS(HP:0005173)	[GBA(2629)]
AORTIC VALVE CALCIFICATION(HP:0004380)	[HGD(3081)]
APATHY(HP:0000741)	[PRNP(5621), CHMP2B(25978), SCN9A(6335), MAPT(4137), DCTN1(1639), SPAST(6683), EIF2B2(8892), GM2A(2760), EIF2B5(8893), GRN(2896), PSEN1(5663), GBA(2629), EIF2B4(8890), EIF2B3(8891), JPH3(57338), HEXA(3073), EIF2B1(1967)]
APHASIA(HP:0002381)	[PRNP(5621), ATP1A2(477), GRN(2896), L1CAM(3897), GJB1(2705)]
APLASIA CUTIS CONGENITA(HP:0001057)	[ALX4(60529), ITGB4(3691), MSX2(4488), DSP(1832), UBR1(197131), TFAP2A(7020), ITGA6(3655)]
APLASIA CUTIS CONGENITA OF SCALP(HP:0007385)	[ALX4(60529), MSX2(4488), UBR1(197131)]
APLASIA FO THE PHALANGES OF THE TOES(HP:0010745)	[TWIST1(7291), FGFR2(2263)]
APLASIA OF METACARPAL BONES(HP:0010048)	[SALL4(57167), LMBR1(64327), ROR2(4920)]
APLASIA OF THE 1ST METATARSAL(HP:0010104)	[TWIST1(7291), FGFR2(2263)]
APLASIA OF THE DISTAL INTERPHALANGEAL CREASES(HP:0001032)	[NOG(9241), HOXD13(3239), TPM2(7169), IHH(3549), LMX1B(4010)]
APLASIA OF THE FINGERS(HP:0009380)	[TBX5(6910), SHFM1(7979), SALL4(57167), FANCA(2175), FGFR3(2261), PORCN(64840), PTEN(5728), NIPBL(25836), FLNA(2316), ESCO2(157570), FGF10(2255), FANCD2(2177), RECQL4(9401), FANCC(2176), FANCE(2178), WNT7A(7476), BMPR1B(658)]
APLASIA OF THE HALLUX(HP:0010108)	[TWIST1(7291), FGFR2(2263)]
APLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010239)	[FGF10(2255), FGFR3(2261)]
APLASIA OF THE PAROTID GLAND(HP:0009740)	[FGF10(2255), FGFR3(2261)]
APLASIA OF THE PECTORALIS MAJOR MUSCLE(HP:0009751)	[TBX5(6910)]
APLASIA OF THE PHALANGES OF THE HALLUX(HP:0010110)	[TWIST1(7291), FGFR2(2263)]
APLASIA OF THE PHALANGES OF THE HAND(HP:0009802)	[FGF10(2255), FGFR3(2261), LMBR1(64327), BMPR1B(658)]
APLASIA OF THE PHALANGES OF THE THUMB(HP:0009659)	[FGF10(2255), FGFR3(2261)]
APLASIA OF THE PROXIMAL PHALANGES OF THE HAND(HP:0010242)	[BMPR1B(658)]
APLASIA OF THE PROXIMAL PHALANX OF THE THUMB(HP:0009637)	[FGF10(2255), FGFR3(2261)]
APLASIA OF THE TARSAL BONES(HP:0010509)	[LMBR1(64327)]
APLASIA OF THE THUMB(HP:0009777)	[FGF10(2255), TBX5(6910), FANCD2(2177), FANCA(2175), SALL4(57167), RECQL4(9401), FGFR3(2261), FANCC(2176), PTEN(5728), FANCE(2178), FLNA(2316)]
APLASIA OF THE TOES(HP:0010760)	[TWIST1(7291), PORCN(64840), FGFR2(2263), WNT7A(7476)]
APLASIA/HYPOPLASIA AFFECTING BONES OF THE AXIAL SKELETON(HP:0009122)	[MYCN(4613), FBN1(2200), FKRP(79147), FBN2(2201), TBX4(9496), GUSB(2990), ATRX(546), ATR(545), TGFBR1(7046), MYH3(4621), NSD1(64324), ANCR(282), HSD17B4(3295), H19(283120), GLI3(2737), EDA(1896), ESCO2(157570), NOG(9241), GLE1(2733), ALX3(257), CDKL5(6792), MYH8(4626), ADAMTS10(81794), IHH(3549), EMG1(10436), GNPTAB(79158), GLB1(2720), SC5DL(6309), CHRNA1(1134), PEX10(5192), DYNC2H1(79659), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), B3GALTL(145173), PTEN(5728), ROR2(4920), DDR2(4921), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRNE(1145), CHRND(1144), CREBBP(1387), PUS1(80324), SLC12A6(9990), PTH1R(5745), ADAMTS2(9509), ACTB(60), UPF3B(65109), COMP(1311), LMNA(4000), RAPSN(5913), FGFR1(2260), FGFR3(2261), EVC2(132884), NBN(4683), FGFR2(2263), MECP2(4204), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), FGF3(2248), IGF1(3479), CECR(1055), KCNJ2(3759), GPC6(10082), FGD1(2245), COL2A1(1280), FUCA1(2517), UBE3A(7337), PQBP1(10084), PEX26(55670), FOXC2(2303), TBCE(6905), POMGNT1(55624), VPS13B(157680), UBA1(7317), TRIP11(9321), TBX1(6899), TNNI2(7136), PORCN(64840), PEX3(8504), TNNT3(7140), NIPBL(25836), LIFR(3977), RUNX2(860), TRPV4(59341), OFD1(8481), KDM5C(8242), FAM123B(139285), HOXD13(3239), DOK7(285489), CUL7(9820), DPAGT1(1798), CHD7(55636), PEX19(5824), ERBB3(2065), ABCD3(5825), PLA2G6(8398), ARSB(411), EP300(2033), PEX2(5828), TWIST1(7291), PEX5(5830), TBX15(6913), TBX3(6926), ERCC6(2074), STRA6(64220), BRAF(673), FLNA(2316), B4GALT7(11285), FLNB(2317), MAP2K1(5604), MAP2K2(5605), BUB1B(701), SOX9(6662), SOX2(6657), SLC35D1(23169), NSDHL(50814), DNMT3B(1789), TCOF1(6949), BMP4(652), AGA(175), GALNS(2588), D2HGDH(728294), LBR(3930), MKS1(54903), MSX2(4488), GNPAT(8443), RECQL4(9401), COL1A1(1277), CTSK(1513), HSPG2(3339), TRPS1(7227), WHCR(7467), CD96(10225), WHSC1(7468), DNAI1(27019), PAX3(5077), ZMPSTE24(10269), DHCR24(1718), MED12(9968), PTPN11(5781), TRIM37(4591), DHCR7(1717), DGCR(1714), DYM(54808), SH3PXD2B(285590), WNT3(7473), FREM2(341640), EVC(2121), PITX2(5308), FRAS1(80144), ALG1(56052), TP63(8626), KRAS(3845), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), SHOX(6473), EIF2AK3(9451), MMP2(4313), GBA(2629), ALPL(249), TPM2(7169)]
APLASIA/HYPOPLASIA AFFECTING THE ANTERIOR SEGMENT OF THE EYE(HP:0008062)	[FBN1(2200), MKKS(8195), WHCR(7467), PAX6(5080), WHSC1(7468), BBS5(129880), TRIM32(22954), ARL6(84100), CEP290(80184), ERCC6(2074), BBS12(166379), PAX3(5077), NDP(4693), MITF(4286), COL4A1(1282), BBS9(27241), TTC8(123016), PITX2(5308), FOXE3(2301), LAMB2(3913), BBS1(582), FOXC1(2296), BBS2(583), LRP2(4036), BBS4(585), PORCN(64840), MKS1(54903), BBS10(79738), TYR(7299), BBS7(55212)]
APLASIA/HYPOPLASIA AFFECTING THE EARS(HP:0008771)	[FKRP(79147), ATRX(546), LARGE(9215), TWIST1(7291), GATA1(2623), FGFR2(2263), LMBRD1(55788), GLI3(2737), DCR(1637), EYA1(2138), MED12(9968), FGF3(2248), FREM2(341640), POMT1(10585), HOXA2(3199), ABHD5(51099), FRAS1(80144), BMP4(652), SALL1(6299), PCNT(5116), TP63(8626), B3GALTL(145173), TFAP2A(7020), SEMA3E(9723), FKTN(2218), FAM123B(139285), GBA(2629), CHD7(55636), POMT2(29954)]
APLASIA/HYPOPLASIA AFFECTING THE EYE(HP:0008056)	[FBN1(2200), FKRP(79147), BBS5(129880), LARGE(9215), ERCC3(2071), TRIM32(22954), TBX15(6913), ARL6(84100), SALL4(57167), STRA6(64220), ERCC6(2074), GLI3(2737), IKBKG(8517), ESCO2(157570), ALX3(257), SOX2(6657), MITF(4286), HESX1(8820), PTCH1(5727), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), FANCE(2178), POMT1(10585), BBS9(27241), MFRP(83552), TCOF1(6949), BMP4(652), LAMB2(3913), LYST(1130), TMEM216(51259), BCOR(54880), LRP2(4036), LRP5(4041), FOXL2(668), FKTN(2218), MKS1(54903), GJA1(2697), RECQL4(9401), CACNA1F(778), RAB3GAP1(22930), POMT2(29954), MKKS(8195), NHS(4810), WHCR(7467), PAX6(5080), WHSC1(7468), HCCS(3052), OCRL(4952), CEP290(80184), BBS12(166379), PAX3(5077), PAX2(5076), COL18A1(80781), TRIM37(4591), NDP(4693), RAX(30062), CECR(1055), COL4A1(1282), WNT3(7473), FREM2(341640), TTC8(123016), PITX2(5308), FOXC2(2303), FRAS1(80144), SHH(6469), POMGNT1(55624), FOXE3(2301), BEST1(7439), FOXC1(2296), BBS1(582), BBS2(583), FANCA(2175), BBS4(585), PORCN(64840), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), SIX6(4990), EBP(10682), BBS10(79738), TYR(7299), SNAP29(9342), BBS7(55212), CHD7(55636)]
APLASIA/HYPOPLASIA AFFECTING THE FUNDUS(HP:0008057)	[COL18A1(80781), FKRP(79147), TYR(7299), SNAP29(9342), POMGNT1(55624), TRIM37(4591), PAX6(5080), LYST(1130), MITF(4286), HESX1(8820), SALL4(57167), CACNA1F(778)]
APLASIA/HYPOPLASIA AFFECTING THE RETINA(HP:0008061)	[COL18A1(80781), FKRP(79147), TYR(7299), POMGNT1(55624), PAX6(5080), LYST(1130), MITF(4286), CACNA1F(778)]
APLASIA/HYPOPLASIA AFFECTING THE UVEA(HP:0008055)	[FBN1(2200), WHCR(7467), PAX6(5080), FOXE3(2301), LAMB2(3913), WHSC1(7468), FOXC1(2296), LRP2(4036), PORCN(64840), ERCC6(2074), PAX3(5077), TRIM37(4591), TYR(7299), NDP(4693), MITF(4286), COL4A1(1282), PITX2(5308)]
APLASIA/HYPOPLASIA INVOLVING BONES OF THE FEET(HP:0006494)	[MYCN(4613), TRPS1(7227), SNRPN(6638), CD96(10225), NPR2(4882), TWIST1(7291), CCBE1(147372), FGFR1(2260), NSD1(64324), FGFR3(2261), TBX3(6926), LMBR1(64327), MGP(4256), GDF5(8200), FGFR2(2263), MECP2(4204), FLNA(2316), FLNB(2317), CUL4B(8450), NOG(9241), NDN(4692), PHF6(84295), DYM(54808), KCNJ2(3759), HOXA13(3209), COL2A1(1280), IHH(3549), WNT7A(7476), SALL1(6299), TBCE(6905), GNAS(2778), VPS13B(157680), PORCN(64840), PEX7(5191), B3GALTL(145173), PHYH(5264), RAB3GAP2(25782), KDM5C(8242), HOXD13(3239), SIL1(64374), RECQL4(9401), BMPR1B(658), ADAMTS2(9509)]
APLASIA/HYPOPLASIA INVOLVING BONES OF THE HAND(HP:0005927)	[MYCN(4613), ABCA12(26154), NPR2(4882), ARSE(415), NEFL(4747), RPS6KA3(6197), GATA1(2623), SALL4(57167), CCBE1(147372), LMBR1(64327), MGP(4256), DPM1(8813), H19(283120), FLNA(2316), DCR(1637), GLI3(2737), FLNB(2317), ESCO2(157570), NOG(9241), CRLF1(9244), FANCD2(2177), FANCC(2176), IHH(3549), FANCE(2178), GNPTAB(79158), CANT1(124583), BMP4(652), GPC3(2719), PTEN(5728), B3GALTL(145173), ROR2(4920), DDR2(4921), LBR(3930), RAB3GAP2(25782), GJA1(2697), SIL1(64374), RECQL4(9401), JAG1(182), BMPR1B(658), EXT2(2132), TRPS1(7227), SNRPN(6638), CD96(10225), COMP(1311), GGCX(2677), EXT1(2131), COL9A3(1299), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), COL11A2(1302), SLC26A2(1836), RMRP(6023), FGF10(2255), DHCR7(1717), NDN(4692), PHF6(84295), KCNJ2(3759), HOXA13(3209), DYM(54808), FGD1(2245), COL2A1(1280), FREM2(341640), WNT7A(7476), EVC(2121), ACVR1(90), ADAMTSL2(9719), FRAS1(80144), GNAS(2778), TBCE(6905), VPS13B(157680), PCNT(5116), TBX5(6910), SHFM1(7979), FANCA(2175), PORCN(64840), SEMA3E(9723), TFAP2A(7020), NIPBL(25836), EIF2AK3(9451), RUNX2(860), TRPV4(59341), KDM5C(8242), HOXD13(3239), CUL7(9820), CHST3(9469), CHD7(55636), LEPRE1(64175)]
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS(HP:0006493)	[MYCN(4613), TBX4(9496), NPR2(4882), TWIST1(7291), TBX15(6913), ATR(545), CCBE1(147372), TBX3(6926), NSD1(64324), MGP(4256), LMBR1(64327), FLNA(2316), FLNB(2317), NOG(9241), SOX9(6662), IHH(3549), SALL1(6299), PEX7(5191), B3GALTL(145173), RAB3GAP2(25782), CHRNG(1146), GNPAT(8443), SIL1(64374), RECQL4(9401), BMPR1B(658), ADAMTS2(9509), TRPS1(7227), SNRPN(6638), CD96(10225), FGFR1(2260), FGFR3(2261), GDF5(8200), MECP2(4204), FGFR2(2263), LMX1B(4010), SLC26A2(1836), CUL4B(8450), NDN(4692), PHF6(84295), DYM(54808), GPC6(10082), HOXA13(3209), KCNJ2(3759), COL2A1(1280), WNT7A(7476), TBCE(6905), GNAS(2778), VPS13B(157680), PORCN(64840), HYLS1(219844), SHOX(6473), PHYH(5264), KDM5C(8242), HOXD13(3239), FAM123B(139285)]
APLASIA/HYPOPLASIA INVOLVING BONES OF THE SKULL(HP:0009116)	[MYCN(4613), FBN1(2200), FKRP(79147), FBN2(2201), TBX4(9496), ATRX(546), ATR(545), TGFBR1(7046), MYH3(4621), ANCR(282), HSD17B4(3295), H19(283120), GLI3(2737), EDA(1896), ESCO2(157570), GLE1(2733), ALX3(257), CDKL5(6792), MYH8(4626), ADAMTS10(81794), EMG1(10436), SC5DL(6309), CHRNA1(1134), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), PTEN(5728), B3GALTL(145173), ROR2(4920), DDR2(4921), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRNE(1145), CHRND(1144), CREBBP(1387), PUS1(80324), SLC12A6(9990), PTH1R(5745), ADAMTS2(9509), UPF3B(65109), LMNA(4000), RAPSN(5913), FGFR1(2260), NBN(4683), FGFR2(2263), MECP2(4204), COL11A2(1302), COL11A1(1301), SLC26A2(1836), FGF3(2248), IGF1(3479), CECR(1055), FGD1(2245), GPC6(10082), KCNJ2(3759), FUCA1(2517), UBE3A(7337), PQBP1(10084), PEX26(55670), FOXC2(2303), TBCE(6905), POMGNT1(55624), VPS13B(157680), UBA1(7317), TBX1(6899), TNNI2(7136), PEX3(8504), TNNT3(7140), NIPBL(25836), LIFR(3977), RUNX2(860), OFD1(8481), KDM5C(8242), FAM123B(139285), DOK7(285489), DPAGT1(1798), CHD7(55636), ERBB3(2065), PEX19(5824), ABCD3(5825), EP300(2033), PLA2G6(8398), PEX2(5828), TWIST1(7291), TBX15(6913), PEX5(5830), STRA6(64220), ERCC6(2074), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), SOX9(6662), BUB1B(701), NSDHL(50814), DNMT3B(1789), TCOF1(6949), BMP4(652), AGA(175), D2HGDH(728294), LBR(3930), MKS1(54903), GNPAT(8443), RECQL4(9401), COL1A1(1277), CTSK(1513), HSPG2(3339), TRPS1(7227), WHCR(7467), CD96(10225), WHSC1(7468), DNAI1(27019), PAX3(5077), ZMPSTE24(10269), MED12(9968), PTPN11(5781), DHCR24(1718), DHCR7(1717), TRIM37(4591), DGCR(1714), WNT3(7473), SH3PXD2B(285590), PITX2(5308), ALG1(56052), TP63(8626), KRAS(3845), HYLS1(219844), TFAP2A(7020), SEMA3E(9723), SHOX(6473), MMP2(4313), GBA(2629), TPM2(7169)]
APLASIA/HYPOPLASIA INVOLVING BONES OF THE THORAX(HP:0006711)	[LMNA(4000), TBX15(6913), ATR(545), FGFR1(2260), NSD1(64324), FGFR3(2261), EVC2(132884), TBX3(6926), FLNA(2316), B4GALT7(11285), ZMPSTE24(10269), LMX1B(4010), FLNB(2317), PTPN11(5781), NOG(9241), BUB1B(701), SOX9(6662), SOX2(6657), DYM(54808), SLC35D1(23169), NSDHL(50814), COL2A1(1280), IHH(3549), FREM2(341640), EVC(2121), GNPTAB(79158), FRAS1(80144), TRIP11(9321), DYNC2H1(79659), PORCN(64840), ROR2(4920), NIPBL(25836), DDR2(4921), RUNX2(860), LBR(3930), MSX2(4488), HOXD13(3239), ALPL(249), CUL7(9820), PTH1R(5745), ACTB(60)]
APLASIA/HYPOPLASIA INVOLVING BONES OF THE UPPER LIMBS(HP:0006496)	[MYCN(4613), NPR2(4882), ATR(545), CCBE1(147372), SALL4(57167), LMBR1(64327), H19(283120), DPM1(8813), GLI3(2737), DCR(1637), B2M(567), ESCO2(157570), NOG(9241), CRLF1(9244), FANCD2(2177), FANCC(2176), IHH(3549), FANCE(2178), GNPTAB(79158), CANT1(124583), GPC3(2719), B3GALTL(145173), PTEN(5728), ROR2(4920), DDR2(4921), RAB3GAP2(25782), GJA1(2697), SIL1(64374), ATP7A(538), SNRPN(6638), COMP(1311), FGFR1(2260), COL9A3(1299), FGFR3(2261), GDF5(8200), FGFR2(2263), COL11A2(1302), SLC26A2(1836), FGF10(2255), NDN(4692), PHF6(84295), CECR(1055), GPC6(10082), HOXA13(3209), FGD1(2245), KCNJ2(3759), COL2A1(1280), ACVR1(90), TBCE(6905), GNAS(2778), VPS13B(157680), TBX5(6910), TRIP11(9321), PORCN(64840), NIPBL(25836), RUNX2(860), TRPV4(59341), KDM5C(8242), HOXD13(3239), CUL7(9820), CHD7(55636), ABCA12(26154), ARSE(415), RPS6KA3(6197), NEFL(4747), GATA1(2623), TBX3(6926), MGP(4256), FLNA(2316), FLNB(2317), BMP4(652), LBR(3930), MIPOL1(145282), GNPAT(8443), RECQL4(9401), JAG1(182), BMPR1B(658), TRPS1(7227), EXT2(2132), CD96(10225), EXT1(2131), GGCX(2677), RMRP(6023), DHCR7(1717), DYM(54808), FREM2(341640), WNT7A(7476), EVC(2121), FRAS1(80144), ADAMTSL2(9719), PCNT(5116), SHFM1(7979), FANCA(2175), HYLS1(219844), TFAP2A(7020), SEMA3E(9723), EIF2AK3(9451), SHOX(6473), CHST3(9469), LEPRE1(64175)]
APLASIA/HYPOPLASIA INVOLVING FOREARM BONES(HP:0006503)	[NPR2(4882), ATR(545), SALL4(57167), FGFR3(2261), TBX3(6926), LMBR1(64327), GDF5(8200), FLNB(2317), B2M(567), ESCO2(157570), FGF10(2255), CECR(1055), FANCD2(2177), FANCC(2176), COL2A1(1280), IHH(3549), FANCE(2178), WNT7A(7476), TRIP11(9321), TBX5(6910), FANCA(2175), NIPBL(25836), SHOX(6473), HOXD13(3239), MIPOL1(145282), RECQL4(9401), JAG1(182), BMPR1B(658)]
APLASIA/HYPOPLASIA INVOLVING THE CARPAL BONES(HP:0006502)	[TRPV4(59341), COMP(1311), DYM(54808), SALL4(57167), RECQL4(9401), LMBR1(64327), WNT7A(7476), GNPTAB(79158), EIF2AK3(9451)]
APLASIA/HYPOPLASIA INVOLVING THE CENTRAL NERVOUS SYSTEM(HP:0002977)	[FBN1(2200), FKRP(79147), HIBCH(26275), CENPJ(55835), DCX(1641), TINF2(26277), ATRX(546), ATR(545), HSD17B4(3295), DPM1(8813), REN(5972), ACE(1636), GLI3(2737), SLC16A2(6567), SLC35C1(55343), GLDC(2731), FANCD2(2177), RPGRIP1L(23322), FANCC(2176), DOLK(22845), FANCE(2178), EMG1(10436), UBR1(197131), GPC3(2719), ACADSB(36), B3GALTL(145173), SLC6A8(6535), MCPH1(79648), FKTN(2218), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), MPV17(4358), POR(5447), VANGL1(81839), PUS1(80324), ATP7A(538), FH(2271), ZEB2(9839), GPR56(9289), RAPSN(5913), FGFR1(2260), FGFR3(2261), FGFR2(2263), AAAS(8086), KCNJ2(3759), ASPM(259266), OPHN1(4983), NIPBL(25836), SNAP29(9342), KDM5C(8242), FAM123B(139285), DOK7(285489), SLC25A22(79751), ERCC2(2068), TBX15(6913), ERCC3(2071), ERCC6(2074), BRAF(673), MAP2K1(5604), MAP2K2(5605), BUB1B(701), MTHFR(4524), TREX1(11277), PAH(5053), AGA(175), SPG11(80208), DLAT(1737), DKC1(1736), BLM(641), PSAT1(29968), MKS1(54903), AGTR1(185), GNPAT(8443), RECQL4(9401), PDHX(8050), KIAA1279(26128), MRPS16(51021), XPA(7507), RAB3GAP1(22930), AGT(183), POMT2(29954), GAD1(2571), ZFYVE26(23503), WHCR(7467), PAX6(5080), EHMT1(79813), SIX3(6496), WHSC1(7468), ERCC8(1161), MVK(4598), PAX3(5077), MED12(9968), DHCR24(1718), EIF2B2(8892), EIF2B5(8893), DGUOK(1716), PPT1(5538), DHCR7(1717), SLC2A1(6513), EIF2B4(8890), FAM20C(56975), EIF2B3(8891), DYM(54808), CYB5R3(1727), PAK3(5063), PHGDH(26227), NOP10(55505), FRAS1(80144), SHH(6469), ALG1(56052), PCNT(5116), FANCA(2175), TSEN54(283989), GCSH(2653), TFAP2A(7020), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), VRK1(7443), AMT(275), MYCN(4613), MYH3(4621), ANCR(282), NSD1(64324), ESCO2(157570), IKBKG(8517), ALX3(257), CDKL5(6792), SC5DL(6309), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), LRP5(4041), PEX7(5191), CRH(1392), MCOLN1(57192), C10orf2(56652), AP3B1(8546), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), PDHA1(5160), HCCS(3052), NBN(4683), INPP5E(56623), NHP2(55651), MECP2(4204), PHF6(84295), IGF1(3479), IGBP1(3476), IGF1R(3480), UBE3A(7337), RELN(5649), PEX26(55670), PQBP1(10084), TBCE(6905), POMGNT1(55624), VPS13B(157680), TBX1(6899), PORCN(64840), PEX3(8504), TUBA1A(7846), FLVCR2(55640), OFD1(8481), DPAGT1(1798), CHD7(55636), PEX19(5824), EP300(2033), ARSE(415), LARGE(9215), PEX5(5830), RPS6KA3(6197), PLP1(5354), MID1(4281), SOX2(6657), NSDHL(50814), PMM2(5373), POMT1(10585), ASPA(443), SP110(3431), PNPO(55163), CTSD(1509), GFM1(85476), ARX(170302), PLG(5340), SPR(6697), CD96(10225), HSPD1(3329), L1CAM(3897), EIF2B1(1967), FREM2(341640), ALG3(10195), CDK5RAP2(55755), KRAS(3845), HYLS1(219844), EFNB1(1947), MMACHC(25974), SEMA3E(9723)]
APLASIA/HYPOPLASIA INVOLVING THE CORTICOSPINAL TRACTS(HP:0007365)	[L1CAM(3897)]
APLASIA/HYPOPLASIA INVOLVING THE FEMORAL HEAD AND NECK(HP:0009108)	[SLC26A2(1836)]
APLASIA/HYPOPLASIA INVOLVING THE METACARPAL BONES(HP:0005914)	[EXT2(2132), TRPS1(7227), CD96(10225), NPR2(4882), COMP(1311), EXT1(2131), RPS6KA3(6197), FGFR1(2260), SALL4(57167), COL9A3(1299), LMBR1(64327), GDF5(8200), COL11A2(1302), FLNA(2316), GLI3(2737), FLNB(2317), SLC26A2(1836), RMRP(6023), NOG(9241), KCNJ2(3759), HOXA13(3209), DYM(54808), COL2A1(1280), IHH(3549), WNT7A(7476), ACVR1(90), CANT1(124583), ADAMTSL2(9719), GNAS(2778), VPS13B(157680), PCNT(5116), PORCN(64840), B3GALTL(145173), ROR2(4920), DDR2(4921), RUNX2(860), LBR(3930), RAB3GAP2(25782), HOXD13(3239), SIL1(64374), CHST3(9469), BMPR1B(658), LEPRE1(64175)]
APLASIA/HYPOPLASIA INVOLVING THE MUSCULATURE(HP:0001460)	[TRPV4(59341), CHRNA1(1134), GLE1(2733), ALX3(257), ATP6V0A2(23545), CHRNG(1146), CHRND(1144), SALL4(57167), LMX1B(4010)]
APLASIA/HYPOPLASIA INVOLVING THE MUSCULATURE OF THE EXTREMITIES(HP:0009128)	[SALL4(57167), LMX1B(4010)]
APLASIA/HYPOPLASIA INVOLVING THE MUSCULATURE OF THE UPPER ARM(HP:0001468)	[LMX1B(4010)]
APLASIA/HYPOPLASIA INVOLVING THE MUSCULATURE OF THE UPPER LIMBS(HP:0001467)	[SALL4(57167), LMX1B(4010)]
APLASIA/HYPOPLASIA INVOLVING THE NOSE(HP:0009924)	[KCNJ11(3767), AVP(551), PLA2G6(8398), TRPS1(7227), CD96(10225), NPR2(4882), TGIF1(7050), ARSE(415), TWIST1(7291), SIX3(6496), GGCX(2677), MYH3(4621), FGFR1(2260), FGFR2(2263), COL11A1(1301), PAX3(5077), FLNA(2316), FLNB(2317), GLI3(2737), INS(3630), EDA(1896), ESCO2(157570), NOG(9241), MITF(4286), USH1G(124590), FAM20C(56975), GPC6(10082), FGD1(2245), FREM2(341640), UBR1(197131), SC5DL(6309), DNMT3B(1789), ADAMTSL2(9719), FRAS1(80144), GPC3(2719), GCK(2645), TRIP11(9321), LRP2(4036), TP63(8626), TBX1(6899), DDR2(4921), ABCC8(6833), LIFR(3977), OFD1(8481), GJA1(2697), GBA(2629), RECQL4(9401), SLC12A6(9990)]
APLASIA/HYPOPLASIA INVOLVING THE PELVIS(HP:0009103)	[SLC26A2(1836), MATN3(4148), TBX15(6913), NSDHL(50814), COL2A1(1280), WNT7A(7476)]
APLASIA/HYPOPLASIA INVOLVING THE SHOULDER MUSCULATURE(HP:0001464)	[SALL4(57167)]
APLASIA/HYPOPLASIA INVOLVING THE SINUSES(HP:0009120)	[ALX3(257), TRIM37(4591), AGA(175), ATRX(546), DNAI1(27019), FUCA1(2517), CTSK(1513), COL11A1(1301), FLNA(2316), RUNX2(860)]
APLASIA/HYPOPLASIA INVOLVING THE SKELETON(HP:0009115)	[FBN1(2200), FKRP(79147), FBN2(2201), NPR2(4882), ATRX(546), ATR(545), CCBE1(147372), TGFBR1(7046), HSD17B4(3295), H19(283120), DPM1(8813), GLI3(2737), DCR(1637), B2M(567), GLE1(2733), NOG(9241), CRLF1(9244), ADAMTS10(81794), FANCD2(2177), FANCC(2176), FANCE(2178), EMG1(10436), GNPTAB(79158), GLB1(2720), CHRNA1(1134), GPC3(2719), DYNC2H1(79659), CRTAP(10491), B3GALTL(145173), ROR2(4920), DDR2(4921), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRNE(1145), CHRND(1144), PUS1(80324), GHR(2690), ATP7A(538), ACTB(60), SNRPN(6638), UPF3B(65109), RAPSN(5913), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), FGF10(2255), FGF3(2248), CECR(1055), HOXA13(3209), FGD1(2245), KCNJ2(3759), ACVR1(90), FOXC2(2303), GNAS(2778), TRIP11(9321), TNNI2(7136), TNNT3(7140), NIPBL(25836), TRPV4(59341), KDM5C(8242), HOXD13(3239), FAM123B(139285), DOK7(285489), CUL7(9820), ERBB3(2065), PLA2G6(8398), ABCA12(26154), TBX15(6913), GATA1(2623), TBX3(6926), STRA6(64220), ERCC6(2074), BRAF(673), B4GALT7(11285), MAP2K1(5604), MAP2K2(5605), BUB1B(701), DNMT3B(1789), TCOF1(6949), BMP4(652), AGA(175), GALNS(2588), MKS1(54903), MSX2(4488), MIPOL1(145282), GNPAT(8443), RECQL4(9401), COL1A1(1277), JAG1(182), BMPR1B(658), EXT2(2132), WHCR(7467), WHSC1(7468), EXT1(2131), GGCX(2677), PAX3(5077), ZMPSTE24(10269), MED12(9968), DHCR24(1718), RMRP(6023), DHCR7(1717), TRIM37(4591), DGCR(1714), DYM(54808), WNT3(7473), SH3PXD2B(285590), WNT7A(7476), EVC(2121), FRAS1(80144), ALG1(56052), PCNT(5116), SHFM1(7979), FANCA(2175), TFAP2A(7020), EIF2AK3(9451), SHOX(6473), GBA(2629), ALPL(249), CHST3(9469), LEPRE1(64175), MYCN(4613), TBX4(9496), GUSB(2990), SALL4(57167), MYH3(4621), AGPS(8540), ANCR(282), NSD1(64324), LMBR1(64327), EDA(1896), ESCO2(157570), ALX3(257), CDKL5(6792), MYH8(4626), MATN3(4148), PAPSS2(9060), IHH(3549), SC5DL(6309), CANT1(124583), SALL1(6299), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), PTEN(5728), CREBBP(1387), SIL1(64374), SLC12A6(9990), PTH1R(5745), ADAMTS2(9509), COMP(1311), LMNA(4000), COL9A3(1299), EVC2(132884), NBN(4683), MECP2(4204), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), CUL4B(8450), NDN(4692), PHF6(84295), IGF1(3479), GPC6(10082), COL2A1(1280), FUCA1(2517), UBE3A(7337), PQBP1(10084), PEX26(55670), TBCE(6905), POMGNT1(55624), VPS13B(157680), UBA1(7317), TBX5(6910), TBX1(6899), PORCN(64840), PEX3(8504), LIFR(3977), RUNX2(860), EBP(10682), OFD1(8481), DPAGT1(1798), CHD7(55636), PEX19(5824), ARSB(411), EP300(2033), ABCD3(5825), PEX2(5828), ARSE(415), TWIST1(7291), PEX5(5830), RPS6KA3(6197), NEFL(4747), MGP(4256), FLNA(2316), FLNB(2317), SOX9(6662), SOX2(6657), NSDHL(50814), SLC35D1(23169), D2HGDH(728294), LBR(3930), CTSK(1513), HSPG2(3339), TRPS1(7227), CD96(10225), DNAI1(27019), MMP13(4322), PTPN11(5781), FREM2(341640), PITX2(5308), ADAMTSL2(9719), TP63(8626), KRAS(3845), HYLS1(219844), EFNB1(1947), SEMA3E(9723), PHYH(5264), MMP2(4313), TPM2(7169)]
APLASIA/HYPOPLASIA INVOLVING THE VERTEBRAL COLUMN(HP:0008518)	[ARSB(411), GUSB(2990), COMP(1311), GALNS(2588), ROR2(4920), DDR2(4921), EIF2AK3(9451), FLNB(2317), TRPV4(59341), LBR(3930), NOG(9241), SOX2(6657), DYM(54808), FGD1(2245), NSDHL(50814), COL2A1(1280), FUCA1(2517), GNPTAB(79158), GLB1(2720)]
APLASIA/HYPOPLASIA OF FINGERS(HP:0006265)	[MYCN(4613), ABCA12(26154), ARSE(415), SALL4(57167), GATA1(2623), LMBR1(64327), MGP(4256), H19(283120), FLNA(2316), GLI3(2737), DCR(1637), ESCO2(157570), NOG(9241), FANCD2(2177), FANCC(2176), IHH(3549), FANCE(2178), CANT1(124583), BMP4(652), GPC3(2719), PTEN(5728), ROR2(4920), GJA1(2697), RECQL4(9401), JAG1(182), BMPR1B(658), GGCX(2677), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), SLC26A2(1836), FGF10(2255), DHCR7(1717), PHF6(84295), HOXA13(3209), COL2A1(1280), FREM2(341640), WNT7A(7476), ACVR1(90), FRAS1(80144), PCNT(5116), TBX5(6910), SHFM1(7979), FANCA(2175), PORCN(64840), SEMA3E(9723), NIPBL(25836), TFAP2A(7020), EIF2AK3(9451), RUNX2(860), KDM5C(8242), HOXD13(3239), CUL7(9820), CHST3(9469), CHD7(55636)]
APLASIA/HYPOPLASIA OF METATARSAL BONES(HP:0001964)	[TRPS1(7227), SALL1(6299), GNAS(2778), VPS13B(157680), NPR2(4882), TWIST1(7291), FGFR1(2260), NSD1(64324), PORCN(64840), LMBR1(64327), PEX7(5191), GDF5(8200), FGFR2(2263), B3GALTL(145173), FLNA(2316), FLNB(2317), PHYH(5264), HOXD13(3239), DYM(54808), KCNJ2(3759), HOXA13(3209), SIL1(64374), COL2A1(1280), WNT7A(7476)]
APLASIA/HYPOPLASIA OF THE 1ST METACARPAL(HP:0010026)	[NOG(9241), PCNT(5116), HOXA13(3209), SALL4(57167), GDF5(8200), CANT1(124583), ACVR1(90)]
APLASIA/HYPOPLASIA OF THE 1ST METATARSAL(HP:0010067)	[TWIST1(7291), FGFR2(2263)]
APLASIA/HYPOPLASIA OF THE 2ND FINGER(HP:0006264)	[GDF5(8200), BMPR1B(658)]
APLASIA/HYPOPLASIA OF THE 2ND METACARPAL(HP:0010036)	[RUNX2(860)]
APLASIA/HYPOPLASIA OF THE 3RD METACARPAL(HP:0010039)	[LBR(3930)]
APLASIA/HYPOPLASIA OF THE 3RD TOE(HP:0010331)	[SALL1(6299)]
APLASIA/HYPOPLASIA OF THE 4TH METACARPAL(HP:0010042)	[LBR(3930), GLI3(2737)]
APLASIA/HYPOPLASIA OF THE 5TH FINGER(HP:0006262)	[HOXD13(3239), GJA1(2697), CUL7(9820), HOXA13(3209), GATA1(2623), ROR2(4920), WNT7A(7476), H19(283120), DCR(1637)]
APLASIA/HYPOPLASIA OF THE 5TH METACARPAL(HP:0010045)	[LBR(3930)]
APLASIA/HYPOPLASIA OF THE BICEPS(HP:0009782)	[LMX1B(4010)]
APLASIA/HYPOPLASIA OF THE BLADDER(HP:0010476)	[MKS1(54903)]
APLASIA/HYPOPLASIA OF THE BRAINSTEM(HP:0007362)	[TUBA1A(7846), TMEM216(51259), LARGE(9215), GPR56(9289), MYH3(4621), VRK1(7443), INPP5E(56623)]
APLASIA/HYPOPLASIA OF THE BREASTS(HP:0010311)	[SRY(6736), IKBKG(8517), TP63(8626), TBX3(6926)]
APLASIA/HYPOPLASIA OF THE CEREBELLUM(HP:0007360)	[FKRP(79147), POMGNT1(55624), TINF2(26277), RAPSN(5913), GPR56(9289), OPHN1(4983), DKC1(1736), TSEN54(283989), HSD17B4(3295), ERCC6(2074), MKS1(54903), BUB1B(701), DOK7(285489), VRK1(7443), PLG(5340)]
APLASIA/HYPOPLASIA OF THE CEREBRUM(HP:0007364)	[FBN1(2200), FKRP(79147), HIBCH(26275), CENPJ(55835), DCX(1641), ATRX(546), ATR(545), HSD17B4(3295), DPM1(8813), REN(5972), ACE(1636), GLI3(2737), SLC16A2(6567), SLC35C1(55343), GLDC(2731), FANCD2(2177), RPGRIP1L(23322), FANCC(2176), DOLK(22845), EMG1(10436), FANCE(2178), UBR1(197131), GPC3(2719), ACADSB(36), B3GALTL(145173), SLC6A8(6535), MCPH1(79648), FKTN(2218), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), MPV17(4358), POR(5447), VANGL1(81839), PUS1(80324), ATP7A(538), FH(2271), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), AAAS(8086), KCNJ2(3759), ASPM(259266), NIPBL(25836), SNAP29(9342), KDM5C(8242), FAM123B(139285), SLC25A22(79751), ERCC2(2068), TBX15(6913), ERCC3(2071), ERCC6(2074), BRAF(673), MAP2K1(5604), MAP2K2(5605), BUB1B(701), MTHFR(4524), TREX1(11277), PAH(5053), AGA(175), SPG11(80208), DLAT(1737), DKC1(1736), BLM(641), PSAT1(29968), MKS1(54903), AGTR1(185), GNPAT(8443), RECQL4(9401), PDHX(8050), KIAA1279(26128), MRPS16(51021), XPA(7507), RAB3GAP1(22930), AGT(183), POMT2(29954), GAD1(2571), ZFYVE26(23503), WHCR(7467), EHMT1(79813), SIX3(6496), WHSC1(7468), ERCC8(1161), MVK(4598), PAX3(5077), MED12(9968), DHCR24(1718), EIF2B2(8892), EIF2B5(8893), DGUOK(1716), PPT1(5538), DHCR7(1717), SLC2A1(6513), EIF2B4(8890), FAM20C(56975), EIF2B3(8891), DYM(54808), CYB5R3(1727), PAK3(5063), PHGDH(26227), NOP10(55505), FRAS1(80144), SHH(6469), ALG1(56052), PCNT(5116), FANCA(2175), TSEN54(283989), GCSH(2653), TFAP2A(7020), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629), MYCN(4613), AMT(275), MYH3(4621), ANCR(282), NSD1(64324), ESCO2(157570), IKBKG(8517), ALX3(257), CDKL5(6792), SC5DL(6309), SALL1(6299), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), LRP5(4041), PEX7(5191), CRH(1392), MCOLN1(57192), C10orf2(56652), AP3B1(8546), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), PDHA1(5160), HCCS(3052), NBN(4683), NHP2(55651), MECP2(4204), PHF6(84295), IGF1(3479), IGBP1(3476), IGF1R(3480), UBE3A(7337), RELN(5649), PEX26(55670), PQBP1(10084), TBCE(6905), VPS13B(157680), TBX1(6899), PORCN(64840), PEX3(8504), TUBA1A(7846), FLVCR2(55640), OFD1(8481), DPAGT1(1798), CHD7(55636), PEX19(5824), EP300(2033), LARGE(9215), ARSE(415), PEX5(5830), RPS6KA3(6197), PLP1(5354), MID1(4281), SOX2(6657), PMM2(5373), POMT1(10585), ASPA(443), SP110(3431), PNPO(55163), CTSD(1509), GFM1(85476), ARX(170302), SPR(6697), CD96(10225), HSPD1(3329), L1CAM(3897), EIF2B1(1967), FREM2(341640), ALG3(10195), CDK5RAP2(55755), HYLS1(219844), KRAS(3845), EFNB1(1947), MMACHC(25974), SEMA3E(9723)]
APLASIA/HYPOPLASIA OF THE CHOROID(HP:0001122)	[TRIM37(4591)]
APLASIA/HYPOPLASIA OF THE CLAVICLES(HP:0006710)	[MSX2(4488), HOXD13(3239), LMNA(4000), NSDHL(50814), TBX3(6926), PORCN(64840), FLNA(2316), ZMPSTE24(10269), B4GALT7(11285), RUNX2(860)]
APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370)	[AMT(275), PEX19(5824), EP300(2033), FKRP(79147), HIBCH(26275), DCX(1641), LARGE(9215), PEX5(5830), NSD1(64324), HSD17B4(3295), ERCC6(2074), BRAF(673), GLI3(2737), MAP2K1(5604), MAP2K2(5605), MID1(4281), ALX3(257), BUB1B(701), GLDC(2731), SOX2(6657), POMT1(10585), GPC3(2719), ASPA(443), SPG11(80208), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), B3GALTL(145173), CRH(1392), MKS1(54903), FKTN(2218), GFM1(85476), ARX(170302), CREBBP(1387), RECQL4(9401), SLC12A6(9990), PDHX(8050), MRPS16(51021), CPT2(1376), RAB3GAP1(22930), POMT2(29954), ZFYVE26(23503), CD96(10225), PDHA1(5160), HCCS(3052), ZEB2(9839), FGFR2(2263), MED12(9968), DHCR24(1718), DHCR7(1717), L1CAM(3897), IGBP1(3476), PEX26(55670), PORCN(64840), KRAS(3845), HYLS1(219844), PEX3(8504), GCSH(2653), EFNB1(1947), TUBA1A(7846), OFD1(8481), FAM123B(139285)]
APLASIA/HYPOPLASIA OF THE DIAPHRAGM(HP:0010315)	[HYLS1(219844)]
APLASIA/HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009835)	[GPC3(2719), ARSE(415), PCNT(5116), GGCX(2677), MGP(4256), ROR2(4920), H19(283120), FLNA(2316), GLI3(2737), NOG(9241), KDM5C(8242), PHF6(84295), HOXD13(3239), HOXA13(3209), CHST3(9469), COL2A1(1280), IHH(3549), JAG1(182)]
APLASIA/HYPOPLASIA OF THE DISTAL PHALANGES OF THE TOES(HP:0010185)	[NOG(9241)]
APLASIA/HYPOPLASIA OF THE DISTAL PHALANX OF THE 5TH FINGER(HP:0009239)	[H19(283120)]
APLASIA/HYPOPLASIA OF THE DISTAL PHALANX OF THE THUMB(HP:0009641)	[GLI3(2737)]
APLASIA/HYPOPLASIA OF THE EPIGLOTTIS(HP:0010565)	[GLI3(2737)]
APLASIA/HYPOPLASIA OF THE EXTREMITIES(HP:0009815)	[MYCN(4613), TBX4(9496), NPR2(4882), ATR(545), SALL4(57167), CCBE1(147372), NSD1(64324), AGPS(8540), LMBR1(64327), H19(283120), DPM1(8813), GLI3(2737), DCR(1637), B2M(567), ESCO2(157570), NOG(9241), PAPSS2(9060), MATN3(4148), CRLF1(9244), FANCD2(2177), FANCC(2176), IHH(3549), FANCE(2178), GNPTAB(79158), CANT1(124583), SALL1(6299), GPC3(2719), CRTAP(10491), PEX7(5191), B3GALTL(145173), PTEN(5728), ROR2(4920), DDR2(4921), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), SIL1(64374), PTH1R(5745), ATP7A(538), ADAMTS2(9509), GHR(2690), SNRPN(6638), COMP(1311), FGFR1(2260), COL9A3(1299), EVC2(132884), FGFR3(2261), GDF5(8200), FGFR2(2263), MECP2(4204), COL11A2(1302), LMX1B(4010), SLC26A2(1836), CUL4B(8450), FGF10(2255), NDN(4692), PHF6(84295), CECR(1055), KCNJ2(3759), HOXA13(3209), GPC6(10082), FGD1(2245), COL2A1(1280), ACVR1(90), TBCE(6905), GNAS(2778), VPS13B(157680), TRIP11(9321), TBX5(6910), PORCN(64840), NIPBL(25836), LIFR(3977), RUNX2(860), EBP(10682), TRPV4(59341), KDM5C(8242), FAM123B(139285), HOXD13(3239), CUL7(9820), CHD7(55636), ABCA12(26154), ARSE(415), TWIST1(7291), TBX15(6913), NEFL(4747), RPS6KA3(6197), GATA1(2623), TBX3(6926), MGP(4256), FLNA(2316), FLNB(2317), SOX9(6662), NSDHL(50814), BMP4(652), LBR(3930), MIPOL1(145282), GNPAT(8443), RECQL4(9401), JAG1(182), BMPR1B(658), HSPG2(3339), TRPS1(7227), EXT2(2132), CD96(10225), EXT1(2131), GGCX(2677), MMP13(4322), DHCR24(1718), RMRP(6023), DHCR7(1717), DYM(54808), SH3PXD2B(285590), WNT3(7473), FREM2(341640), WNT7A(7476), EVC(2121), ADAMTSL2(9719), FRAS1(80144), PCNT(5116), SHFM1(7979), FANCA(2175), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), EFNB1(1947), EIF2AK3(9451), SHOX(6473), PHYH(5264), ALPL(249), CHST3(9469), LEPRE1(64175)]
APLASIA/HYPOPLASIA OF THE FEMUR(HP:0005613)	[SLC26A2(1836), GNPAT(8443), GDF5(8200), IHH(3549), WNT7A(7476), FLNB(2317)]
APLASIA/HYPOPLASIA OF THE FIBULA(HP:0006492)	[SOX9(6662), FAM123B(139285), TBX15(6913), ATR(545), GPC6(10082), LMBR1(64327), GDF5(8200), WNT7A(7476), SHOX(6473), BMPR1B(658), FLNA(2316), FLNB(2317)]
APLASIA/HYPOPLASIA OF THE FOVEA(HP:0008060)	[TYR(7299), PAX6(5080), MITF(4286), CACNA1F(778)]
APLASIA/HYPOPLASIA OF THE FRONTAL SINUSES(HP:0009119)	[ALX3(257), TRIM37(4591), AGA(175), ATRX(546), DNAI1(27019), FUCA1(2517), CTSK(1513), COL11A1(1301), FLNA(2316), RUNX2(860)]
APLASIA/HYPOPLASIA OF THE HALLUX(HP:0008362)	[NOG(9241), TWIST1(7291), HOXA13(3209), GDF5(8200), MGP(4256), FGFR2(2263), IHH(3549), BMPR1B(658), FLNA(2316)]
APLASIA/HYPOPLASIA OF THE HUMERUS(HP:0006507)	[SALL4(57167), TBX3(6926), GDF5(8200), LMBR1(64327), FLNA(2316), FLNB(2317), NOG(9241), GNPAT(8443), GPC6(10082), RECQL4(9401), CHST3(9469), IHH(3549), ATP7A(538)]
APLASIA/HYPOPLASIA OF THE INNER EAR(HP:0008774)	[EYA1(2138)]
APLASIA/HYPOPLASIA OF THE IRIS(HP:0008053)	[FBN1(2200), WHCR(7467), PAX6(5080), FOXE3(2301), LAMB2(3913), WHSC1(7468), FOXC1(2296), LRP2(4036), PORCN(64840), ERCC6(2074), PAX3(5077), TYR(7299), NDP(4693), MITF(4286), COL4A1(1282), PITX2(5308)]
APLASIA/HYPOPLASIA OF THE LENS(HP:0008063)	[MKKS(8195), FOXE3(2301), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), ARL6(84100), BBS4(585), CEP290(80184), BBS12(166379), BBS10(79738), MKS1(54903), BBS7(55212), BBS9(27241), TTC8(123016)]
APLASIA/HYPOPLASIA OF THE LUNGS(HP:0006703)	[PEX19(5824), HSPG2(3339), RET(5979), MKKS(8195), PEX5(5830), RAPSN(5913), STRA6(64220), ZMPSTE24(10269), SLC26A2(1836), GLE1(2733), FAM20C(56975), WNT3(7473), NSDHL(50814), NPHP3(27031), FREM2(341640), PEX26(55670), CHRNA1(1134), UPK3A(7380), FRAS1(80144), PEX10(5192), PKHD1(5314), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), PEX3(8504), ETFDH(2110), ETFB(2109), LIFR(3977), ETFA(2108), INVS(27130), LBR(3930), MKS1(54903), DOK7(285489), CHRNG(1146), GBA(2629), CHRND(1144)]
APLASIA/HYPOPLASIA OF THE MACULA(HP:0008059)	[COL18A1(80781), TYR(7299), PAX6(5080), LYST(1130), MITF(4286), CACNA1F(778)]
APLASIA/HYPOPLASIA OF THE MANDIBLE(HP:0009118)	[MYCN(4613), FBN1(2200), TBX4(9496), FBN2(2201), FKRP(79147), ATRX(546), ATR(545), TGFBR1(7046), MYH3(4621), HSD17B4(3295), H19(283120), GLI3(2737), ESCO2(157570), GLE1(2733), MYH8(4626), EMG1(10436), SC5DL(6309), CHRNA1(1134), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), PTEN(5728), B3GALTL(145173), ROR2(4920), DDR2(4921), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRNE(1145), CREBBP(1387), CHRND(1144), PUS1(80324), PTH1R(5745), ADAMTS2(9509), LMNA(4000), RAPSN(5913), NBN(4683), MECP2(4204), COL11A2(1302), COL11A1(1301), SLC26A2(1836), IGF1(3479), FGF3(2248), CECR(1055), GPC6(10082), KCNJ2(3759), PQBP1(10084), PEX26(55670), FOXC2(2303), TBCE(6905), POMGNT1(55624), VPS13B(157680), UBA1(7317), TBX1(6899), TNNI2(7136), PEX3(8504), TNNT3(7140), NIPBL(25836), LIFR(3977), RUNX2(860), OFD1(8481), KDM5C(8242), FAM123B(139285), DOK7(285489), DPAGT1(1798), CHD7(55636), ERBB3(2065), PEX19(5824), EP300(2033), PLA2G6(8398), ABCD3(5825), PEX2(5828), TBX15(6913), PEX5(5830), STRA6(64220), ERCC6(2074), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), SOX9(6662), BUB1B(701), NSDHL(50814), DNMT3B(1789), TCOF1(6949), BMP4(652), D2HGDH(728294), LBR(3930), MKS1(54903), GNPAT(8443), RECQL4(9401), COL1A1(1277), CTSK(1513), HSPG2(3339), TRPS1(7227), WHCR(7467), CD96(10225), WHSC1(7468), ZMPSTE24(10269), PTPN11(5781), MED12(9968), DHCR24(1718), DHCR7(1717), DGCR(1714), WNT3(7473), SH3PXD2B(285590), ALG1(56052), KRAS(3845), HYLS1(219844), TFAP2A(7020), SEMA3E(9723), SHOX(6473), MMP2(4313), GBA(2629), TPM2(7169)]
APLASIA/HYPOPLASIA OF THE MAXILLA(HP:0009117)	[FBN1(2200), EP300(2033), UPF3B(65109), TWIST1(7291), FGFR1(2260), ANCR(282), MECP2(4204), FGFR2(2263), PAX3(5077), FLNB(2317), MED12(9968), EDA(1896), ALX3(257), CDKL5(6792), ADAMTS10(81794), FGD1(2245), KCNJ2(3759), UBE3A(7337), PITX2(5308), VPS13B(157680), TP63(8626), PTEN(5728), LBR(3930), RAB3GAP2(25782), KDM5C(8242), MMP2(4313), CREBBP(1387), SLC12A6(9990)]
APLASIA/HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0009843)	[MYCN(4613), BMP4(652), FGFR1(2260), GATA1(2623), FGFR3(2261), GDF5(8200), FGFR2(2263), ROR2(4920), H19(283120), EIF2AK3(9451), RUNX2(860), DCR(1637), SLC26A2(1836), NOG(9241), FGF10(2255), HOXD13(3239), GJA1(2697), HOXA13(3209), COL2A1(1280), IHH(3549)]
APLASIA/HYPOPLASIA OF THE MIDDLE PHALANGES OF THE TOES(HP:0010194)	[NOG(9241), GDF5(8200), IHH(3549), BMPR1B(658)]
APLASIA/HYPOPLASIA OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009568)	[MYCN(4613), GDF5(8200), BMPR1B(658)]
APLASIA/HYPOPLASIA OF THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0009161)	[MYCN(4613), HOXD13(3239), GJA1(2697), GATA1(2623), GDF5(8200), ROR2(4920), H19(283120), BMPR1B(658), DCR(1637)]
APLASIA/HYPOPLASIA OF THE MUSCULATURE OF THE PELVIS(HP:0001471)	[TRIM32(22954), SGCB(6443)]
APLASIA/HYPOPLASIA OF THE MUSCULATURE OF THE THIGH(HP:0009786)	[LMX1B(4010)]
APLASIA/HYPOPLASIA OF THE NAILS(HP:0008386)	[NOP10(55505), GJB6(10804), GPC3(2719), FGFR1(2260), TP63(8626), PORCN(64840), NHP2(55651), GDF5(8200), ROR2(4920), TFAP2A(7020), LMX1B(4010), LBR(3930), ITGB4(3691), NOG(9241), OFD1(8481), RSPO4(343637), WNT10A(80326), CPT2(1376), EVC(2121), ITGA6(3655)]
APLASIA/HYPOPLASIA OF THE NASAL SEPTUM(HP:0009935)	[NOG(9241), TGIF1(7050), SIX3(6496), FLNB(2317)]
APLASIA/HYPOPLASIA OF THE NIPPLES(HP:0006709)	[IKBKG(8517), CHRNG(1146), TP63(8626), TBX3(6926), GNE(10020), UBR1(197131), NIPBL(25836)]
APLASIA/HYPOPLASIA OF THE OPTIC NERVE(HP:0008058)	[SNAP29(9342), HESX1(8820), SALL4(57167)]
APLASIA/HYPOPLASIA OF THE OUTER EAR(HP:0008772)	[FKRP(79147), ATRX(546), LARGE(9215), TWIST1(7291), GATA1(2623), FGFR2(2263), LMBRD1(55788), GLI3(2737), DCR(1637), EYA1(2138), MED12(9968), FGF3(2248), FREM2(341640), POMT1(10585), HOXA2(3199), ABHD5(51099), FRAS1(80144), BMP4(652), SALL1(6299), PCNT(5116), TP63(8626), B3GALTL(145173), TFAP2A(7020), SEMA3E(9723), FKTN(2218), FAM123B(139285), GBA(2629), CHD7(55636), POMT2(29954)]
APLASIA/HYPOPLASIA OF THE OVARIES(HP:0010462)	[PTPN11(5781), DHH(50846)]
APLASIA/HYPOPLASIA OF THE PATELLA(HP:0006498)	[TBX4(9496), CHRNG(1146), RECQL4(9401), GDF5(8200), WNT7A(7476), LMX1B(4010)]
APLASIA/HYPOPLASIA OF THE PHALANGES OF THE 2ND FINGER(HP:0009552)	[MYCN(4613), GDF5(8200), BMPR1B(658)]
APLASIA/HYPOPLASIA OF THE PHALANGES OF THE 5TH FINGER(HP:0009376)	[MYCN(4613), HOXD13(3239), GJA1(2697), GATA1(2623), GDF5(8200), ROR2(4920), H19(283120), BMPR1B(658), DCR(1637)]
APLASIA/HYPOPLASIA OF THE PHALANGES OF THE HALLUX(HP:0010058)	[TWIST1(7291), FGFR2(2263), IHH(3549)]
APLASIA/HYPOPLASIA OF THE PHALANGES OF THE HAND(HP:0009767)	[MYCN(4613), NPR2(4882), ARSE(415), SALL4(57167), GATA1(2623), LMBR1(64327), MGP(4256), H19(283120), FLNA(2316), GLI3(2737), DCR(1637), NOG(9241), SOX9(6662), IHH(3549), CANT1(124583), BMP4(652), GPC3(2719), ROR2(4920), DDR2(4921), LBR(3930), RAB3GAP2(25782), GJA1(2697), JAG1(182), BMPR1B(658), ADAMTS2(9509), TRPS1(7227), NHS(4810), COMP(1311), GGCX(2677), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), COL11A2(1302), ZMPSTE24(10269), SLC26A2(1836), FGF10(2255), PHF6(84295), HOXA13(3209), DYM(54808), KCNJ2(3759), COL2A1(1280), FREM2(341640), WNT7A(7476), ACVR1(90), FRAS1(80144), GNAS(2778), PCNT(5116), PORCN(64840), EIF2AK3(9451), LIFR(3977), RUNX2(860), KDM5C(8242), HOXD13(3239), CHST3(9469)]
APLASIA/HYPOPLASIA OF THE PHALANGES OF THE THUMB(HP:0009658)	[NOG(9241), FGF10(2255), PCNT(5116), HOXA13(3209), SALL4(57167), FGFR3(2261), GDF5(8200), IHH(3549), CANT1(124583), ACVR1(90), GLI3(2737)]
APLASIA/HYPOPLASIA OF THE PHALANGES OF THE TOES(HP:0010173)	[NOG(9241), TWIST1(7291), GDF5(8200), FGFR2(2263), IHH(3549), WNT7A(7476), BMPR1B(658)]
APLASIA/HYPOPLASIA OF THE PROXIMAL PHALANGES OF THE HAND(HP:0009851)	[NOG(9241), PCNT(5116), HOXA13(3209), SALL4(57167), COL2A1(1280), GDF5(8200), IHH(3549), BMPR1B(658), CANT1(124583), ACVR1(90)]
APLASIA/HYPOPLASIA OF THE PROXIMAL PHALANGES OF THE TOES(HP:0010203)	[TWIST1(7291), FGFR2(2263)]
APLASIA/HYPOPLASIA OF THE PROXIMAL PHALANX OF THE HALLUX(HP:0010085)	[IHH(3549)]
APLASIA/HYPOPLASIA OF THE PROXIMAL PHALANX OF THE THUMB(HP:0009629)	[FGF10(2255), FGFR3(2261), IHH(3549)]
APLASIA/HYPOPLASIA OF THE PUBIC BONE(HP:0009104)	[MATN3(4148), TBX15(6913), COL2A1(1280), WNT7A(7476)]
APLASIA/HYPOPLASIA OF THE PYRAMIDAL TRACT(HP:0007363)	[FKTN(2218)]
APLASIA/HYPOPLASIA OF THE QUDRICEPS(HP:0009787)	[LMX1B(4010)]
APLASIA/HYPOPLASIA OF THE RADIUS(HP:0006501)	[NPR2(4882), TRIP11(9321), TBX5(6910), ATR(545), SALL4(57167), FANCA(2175), FGFR3(2261), LMBR1(64327), GDF5(8200), NIPBL(25836), FLNB(2317), ESCO2(157570), FGF10(2255), MIPOL1(145282), HOXD13(3239), CECR(1055), FANCD2(2177), RECQL4(9401), FANCC(2176), FANCE(2178), IHH(3549), WNT7A(7476)]
APLASIA/HYPOPLASIA OF THE RIBS(HP:0006712)	[DYNC2H1(79659), ATR(545), NSD1(64324), FGFR3(2261), EVC2(132884), PORCN(64840), ROR2(4920), DDR2(4921), LMX1B(4010), FLNB(2317), RUNX2(860), PTPN11(5781), LBR(3930), SOX9(6662), SOX2(6657), ALPL(249), CUL7(9820), SLC35D1(23169), NSDHL(50814), COL2A1(1280), PTH1R(5745), IHH(3549), EVC(2121)]
APLASIA/HYPOPLASIA OF THE SACRUM(HP:0008517)	[FUCA1(2517), ROR2(4920)]
APLASIA/HYPOPLASIA OF THE SCAPULAE(HP:0006713)	[TRIP11(9321), TBX15(6913), FGFR1(2260), TBX3(6926), FGFR3(2261), FLNA(2316), RUNX2(860), SOX9(6662), DYM(54808), NSDHL(50814), SLC35D1(23169), GNPTAB(79158), ACTB(60)]
APLASIA/HYPOPLASIA OF THE SKIN(HP:0008065)	[ALX4(60529), LAMB3(3914), PLOD1(5351), LAMC2(3918), HCCS(3052), TP63(8626), SOX18(54345), AIP(9049), TFAP2A(7020), LIFR(3977), LAMA3(3909), EDA(1896), ITGB4(3691), MSX2(4488), PDE11A(50940), PRKAR1A(5573), DSP(1832), COL7A1(1294), COL1A2(1278), COL1A1(1277), UBR1(197131), ITGA6(3655)]
APLASIA/HYPOPLASIA OF THE SPLEEN(HP:0010451)	[AIRE(326), MYCN(4613), MKS1(54903), DNAI1(27019), ZIC3(7547), NPHP3(27031), STRA6(64220)]
APLASIA/HYPOPLASIA OF THE STERNUM(HP:0006714)	[FRAS1(80144), NOG(9241), BUB1B(701), SOX9(6662), FREM2(341640), NIPBL(25836)]
APLASIA/HYPOPLASIA OF THE TARSAL BONES(HP:0008363)	[LMBR1(64327), WNT7A(7476)]
APLASIA/HYPOPLASIA OF THE TESTES(HP:0010468)	[HSPG2(3339), MKKS(8195), ATRX(546), BBS5(129880), TRIM32(22954), PROK2(60675), FGFR1(2260), NELF(26012), ARL6(84100), TAC3(6866), CEP290(80184), BBS12(166379), DNAJC19(131118), TACR3(6870), GLI3(2737), CUL4B(8450), BBS9(27241), TTC8(123016), PHGDH(26227), PQBP1(10084), CYP11B1(1584), LHCGR(3973), SLC39A4(55630), F13A1(2162), BBS1(582), BBS2(583), BBS4(585), DKC1(1736), DCAF17(80067), BBS10(79738), MKS1(54903), KISS1R(84634), KDM5C(8242), BBS7(55212), CUL7(9820), CHD7(55636)]
APLASIA/HYPOPLASIA OF THE THUMB(HP:0009601)	[SALL4(57167), FGFR3(2261), LMBR1(64327), GDF5(8200), MGP(4256), FLNA(2316), GLI3(2737), ESCO2(157570), FGF10(2255), NOG(9241), DHCR7(1717), HOXA13(3209), FANCD2(2177), FANCC(2176), COL2A1(1280), FREM2(341640), IHH(3549), FANCE(2178), ACVR1(90), CANT1(124583), FRAS1(80144), PCNT(5116), TBX5(6910), FANCA(2175), PTEN(5728), SEMA3E(9723), TFAP2A(7020), HOXD13(3239), RECQL4(9401), CHD7(55636)]
APLASIA/HYPOPLASIA OF THE THYMUS(HP:0010515)	[ABCD3(5825), ADA(100), PEX2(5828), RAG2(5897), ATM(472), DCLRE1C(64421), RAG1(5896)]
APLASIA/HYPOPLASIA OF THE TIBIA(HP:0005772)	[LMBR1(64327), HYLS1(219844), IHH(3549), SHOX(6473)]
APLASIA/HYPOPLASIA OF THE TOES(HP:0001991)	[MYCN(4613), SALL1(6299), GNAS(2778), CD96(10225), NPR2(4882), TWIST1(7291), FGFR3(2261), PORCN(64840), TBX3(6926), GDF5(8200), MGP(4256), FGFR2(2263), FLNA(2316), NOG(9241), RAB3GAP2(25782), HOXD13(3239), PHF6(84295), HOXA13(3209), COL2A1(1280), IHH(3549), WNT7A(7476), BMPR1B(658), ADAMTS2(9509)]
APLASIA/HYPOPLASIA OF THE TONGUE(HP:0010295)	[BMP4(652), MYH3(4621)]
APLASIA/HYPOPLASIA OF THE TRICEPS(HP:0009784)	[LMX1B(4010)]
APLASIA/HYPOPLASIA OF THE ULNA(HP:0006495)	[SALL4(57167), FGFR3(2261), TBX3(6926), LMBR1(64327), GDF5(8200), SHOX(6473), FLNB(2317), B2M(567), FGF10(2255), RECQL4(9401), COL2A1(1280), IHH(3549), WNT7A(7476), JAG1(182), BMPR1B(658)]
APLASIA/HYPOPLASTIA OF THE INTERPHALANGEAL CREASES(HP:0006031)	[NOG(9241), HOXD13(3239), TBX15(6913), TNNI2(7136), MYH3(4621), TPM2(7169), IHH(3549), TNNT3(7140), LMX1B(4010)]
APLASTIC ANEMIA(HP:0001915)	[NOP10(55505), TINF2(26277), TERC(7012), HOXA11(3207), TERT(7015), NHP2(55651)]
APLASTIC CLAVICLES(HP:0006660)	[RUNX2(860)]
APLASTIC/HYPOPLASTIC FINGERNAILS(HP:0008384)	[LBR(3930), NOG(9241), PORCN(64840), ROR2(4920), TFAP2A(7020)]
APLASTIC/HYPOPLASTIC LACRIMAL GLANDS(HP:0008038)	[FRAS1(80144), FGF10(2255), FGFR3(2261), FREM2(341640)]
APLASTIC/HYPOPLASTIC LACRIMAL PUNCTA(HP:0007892)	[FGF10(2255), FGFR3(2261)]
APLASTIC/HYPOPLASTIC TOENAILS(HP:0010624)	[LBR(3930), NOG(9241), FGFR1(2260), PORCN(64840), GDF5(8200), CPT2(1376)]
APNEA(HP:0002104)	[PRNP(5621), FBN1(2200), ABCD3(5825), BTD(686), FBP1(2203), CHAT(1103), PDHA1(5160), PEX2(5828), RAPSN(5913), INPP5E(56623), CEP290(80184), MECP2(4204), HSPD1(3329), SCN2A(6326), MCCC1(56922), IDS(3423), PSAP(5660), SOX9(6662), HRAS(3265), AHI1(54806), TMEM216(51259), ACADSB(36), TSPYL1(7259), D2HGDH(728294), BCHE(590), LIFR(3977), PCCB(5096), TRPV4(59341), CTSD(1509), FAM123B(139285), GJA1(2697), GBA(2629), ALPL(249), KCNQ2(3785), CPT2(1376), PCCA(5095)]
APNEA DURING SEIZURE SPELLS(HP:0002794)	[KCNQ2(3785), SCN2A(6326)]
APNEIC EPISODES IN INFANCY(HP:0005949)	[ACADSB(36)]
APNEIC EPISODES PRECIPITATED BY ILLNESS, FATIGUE, STRESS(HP:0002872)	[CHAT(1103), PDHA1(5160)]
APRAXIA(HP:0002186)	[SLC25A15(10166), PRNP(5621), ATP1A2(477), SETX(23064), INPP5E(56623), CEP290(80184), NHLRC1(378884), BRAF(673), MAP2K1(5604), MAP2K2(5605), PSEN1(5663), NPHP1(4867), TMEM67(91147), AHI1(54806), TREM2(54209), FOXP2(93986), EPM2A(7957), ATXN2(6311), TMEM216(51259), TBP(6908), DLAT(1737), KRAS(3845), PANK2(80025), GRN(2896), GBA(2629), SLC17A5(26503), TYROBP(7305), APTX(54840)]
AQUEDUCTAL STENOSIS(HP:0002410)	[L1CAM(3897), NF1(4763), PTEN(5728)]
ARACHNODACTYLY(HP:0001166)	[FBN1(2200), FBN2(2201), PLOD1(5351), UPF3B(65109), TGFBR1(7046), FGFR1(2260), FGFR2(2263), FLNA(2316), B4GALT7(11285), COL11A1(1301), MTM1(4534), MED12(9968), COL6A1(1291), MYH7(4625), COL6A2(1292), COL6A3(1293), COL2A1(1280), CBS(875), LAMB1(3912), ALG3(10195), CHST14(113189), CHRNG(1146), POR(5447), CTSC(1075), SMS(6611), HSD17B10(3028)]
ARCHED EYEBROWS(HP:0002553)	[EP300(2033), WHCR(7467), WHSC1(7468), AHI1(54806), CREBBP(1387), RPS6KA3(6197), INPP5E(56623), KIAA1279(26128), TFAP2B(7021)]
AREAS OF DYSMYELINATION ON MRI(HP:0007217)	[GPR56(9289)]
AREFLEXIA(HP:0001284)	[PRNP(5621), BIN1(274), ABCD3(5825), MYOT(9499), PEX2(5828), TRIM32(22954), SACS(26278), NEFL(4747), SETX(23064), GAN(8139), PRPS1(5631), ERCC6(2074), MTM1(4534), MYF6(4618), SOX10(6663), ATXN3(4287), TTPA(7274), RAB7A(7879), TYMP(1890), DNM2(1785), ATXN1(6310), SBF2(81846), PLEKHG5(57449), LAMB2(3913), HSPB1(3315), KIF1B(23095), DYSF(8291), FGD4(121512), PRX(57716), C10orf2(56652), MPZ(4359), SLC12A6(9990), TCAP(8557), JAG1(182), LMNA(4000), NDRG1(10397), ALG6(29929), OCRL(4952), POLG(5428), PRPS2(5634), MED25(81857), EGR2(1959), HSPB8(26353), GDAP1(54332), FXN(2395), NEB(4703), SMN1(6606), ALG1(56052), MFN2(9927), LIFR(3977), TRPV4(59341), WNK1(65125), SNAP29(9342), GAA(2548), APTX(54840), PMP22(5376)]
AREFLEXIA IN LOWER LIMBS(HP:0002522)	[SMN1(6606), MYOT(9499), ATXN3(4287), HSPB1(3315), HSPB8(26353), DYSF(8291), SACS(26278), GAN(8139), PRPS1(5631), TCAP(8557), FXN(2395)]
ARGININE DEFICIENCY(HP:0005961)	[ASL(435)]
ARNOLD-CHIARI MALFORMATION(HP:0002308)	[FBN1(2200), MKS1(54903), FGFR1(2260), TGFBR1(7046), POR(5447), PORCN(64840), FGFR2(2263), PAX2(5076), SC5DL(6309)]
ARNOLD-CHIARI TYPE I MALFORMATION(HP:0007099)	[FBN1(2200), FGFR2(2263), PAX2(5076)]
ARREST OF ENDOCHONDRAL RING STRUCTURES WITH PERSISTENCE OF CIRCUMFERENTIAL GROWTH(HP:0003336)	[TRPV4(59341)]
ARRHINENCEPHALY(HP:0002139)	[HYLS1(219844), SEMA3E(9723), CHD7(55636)]
ARTERIAL ABNORMALITIES(HP:0002620)	[RET(5979), LDLR(3949), TGFBR1(7046), FLNA(2316), TTR(7276), NF1(4763), MYH9(4627), ENG(2022), SMAD9(4093), GLB1(2720), GLA(2717), ABCG8(64241), SLC2A10(81031), ELN(2006), KIF1B(23095), ABCG5(64240), GJA1(2697), AGXT(189), COL1A1(1277), ATP7A(538), BMPR2(659), SERPIND1(3053), ENPP1(5167), APOB(338), LMNA(4000), SDHD(6392), APOA2(336), APP(351), SDHB(6390), APOE(348), HGD(3081), LPL(4023), CYP27A1(1593), PRPF3(9129), SLC17A3(10786), COL4A1(1282), APOA1(335), ACVRL1(94), COL3A1(1281), CBS(875), PKD2(5311), PKD1(5310), SMARCAL1(50485), SLC37A4(2542), BEST1(7439), ABCC6(368), FOXF1(2294), LIFR(3977), VHL(7428), JAK2(3717), LIPC(3990), LIPA(3988), GBA(2629), GAA(2548)]
ARTERIAL ANEURYSM OF CELIAC AND MESENTERIC VESSELS(HP:0002636)	[ENG(2022)]
ARTERIAL CALCIFICATION(HP:0003207)	[ENPP1(5167), ABCC6(368)]
ARTERIAL CALCIFICATION, GENERALIZED(HP:0004940)	[ENPP1(5167)]
ARTERIAL THROMBOSIS(HP:0004420)	[PROS1(5627)]
ARTERIAL TORTUOSITY(HP:0005116)	[SLC2A10(81031), APP(351), TGFBR1(7046), ATP7A(538)]
ARTERIAL TORTUOSITY, GENERALIZED(HP:0004955)	[TGFBR1(7046)]
ARTERIES SHOW INTIMAL FIBROSIS(HP:0005312)	[SMAD9(4093), BMPR2(659)]
ARTERIES SHOW MEDIAL HYPERTROPHY(HP:0004964)	[SMAD9(4093), BMPR2(659)]
ARTERIOSCLEROSIS(HP:0002634)	[SMARCAL1(50485), ABCC6(368), WRN(7486)]
ARTERIOVENOUS FISTULAS(HP:0004947)	[ENG(2022)]
ARTERIOVENOUS FISTULAS OF CELIAC AND MESENTERIC VESSELS(HP:0002642)	[ENG(2022)]
ARTERIOVENOUS MALFORMATIONS(HP:0100026)	[ENG(2022), SMAD4(4089), ACVRL1(94)]
ARTHRALGIA(HP:0002829)	[TRAPPC2(6399), C1R(715), PHEX(5251), NLRP3(114548), MVK(4598), COL11A2(1302), SLC26A2(1836), MEFV(4210), MMP2(4313), MATN3(4148), TNFRSF1A(7132), TREX1(11277), CHST3(9469), COL2A1(1280)]
ARTHRALGIA (HIP)(HP:0003365)	[MATN3(4148)]
ARTHRITIS(HP:0001369)	[FBN1(2200), TRAPPC2(6399), COMP(1311), COL9A3(1299), COL9A2(1298), PRPS1(5631), COL9A1(1297), MVK(4598), MMP13(4322), COL11A2(1302), PRPS2(5634), COL5A2(1290), COL5A1(1289), SLC17A3(10786), PAPSS2(9060), MATN3(4148), RAG2(5897), RAG1(5896), BTK(695), COL2A1(1280), COL3A1(1281), CLCN7(1186), ANKH(56172), C1R(715), SLC37A4(2542), PHEX(5251), TNXB(7148), ABCG8(64241), ABCG5(64240), G6PC(2538), WISP3(8838), PSTPIP1(9051), PLA2G2A(5320), CFI(3426), COL1A2(1278), ATP7B(540), COL1A1(1277), UMOD(7369)]
ARTHROGRYPOSIS(HP:0001390)	[ERBB3(2065), ITGB4(3691), GBA(2629), RAPSN(5913), TNNI2(7136), MYH3(4621), TPM2(7169), CHST14(113189), TNNT3(7140), NEB(4703), ITGA6(3655)]
ARTHROGRYPOSIS MAY OCCUR(HP:0005663)	[RAPSN(5913)]
ARTHROGRYPOSIS MULTIPLEX CONGENITA(HP:0002804)	[CHRNA1(1134), CHAT(1103), ALG3(10195), VPS33B(26276), RAPSN(5913), MYH3(4621), TNNI2(7136), MUSK(4593), TNNT3(7140), EGR2(1959), MPZ(4359), CHRNG(1146), CHRNE(1145), CHRND(1144), TPM2(7169), GBE1(2632), CHRNB1(1140)]
ARTHROGRYPOSIS MULTIPLEX CONGENITA MAY OCCUR(HP:0005859)	[EGR2(1959), MPZ(4359)]
ARTHROGRYPOSIS MULTIPLEX IN SEVERE CASES(HP:0002759)	[CHRNA1(1134), CHAT(1103), CHRNE(1145), CHRND(1144), RAPSN(5913), CHRNB1(1140), MUSK(4593)]
ARTHROPATHY(HP:0003040)	[ANKH(56172), IKBKAP(8518), SQSTM1(8878), MMP2(4313), MEFV(4210), NTRK1(4914), WISP3(8838), COL2A1(1280), PRG4(10216), TNFRSF11A(8792), HFE(3077), COL11A1(1301)]
ASCENDING AORTIC ANEURYSM(HP:0002631)	[FBN1(2200), MED12(9968), FBLN5(10516), EFEMP2(30008), TGFBR1(7046), LOX(4015)]
ASCENDING AORTIC DISSECTION(HP:0004933)	[TGFBR1(7046)]
ASCITES(HP:0001541)	[FAH(2184), DGUOK(1716), FSHR(2492), MPV17(4358), GBA(2629), SLC17A5(26503), MRPS22(56945), GBE1(2632), NEU1(4758), HFE(3077), C10orf2(56652)]
ASPERGILLUS INFECTIONS(HP:0002724)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
ASPIRATION(HP:0002835)	[GM2A(2760), MID1(4281), HEXA(3073), MATR3(9782)]
ASPIRATION PNEUMONIA(HP:0002100)	[GBA(2629)]
ASPLENIA(HP:0001746)	[AIRE(326), MYCN(4613), MKS1(54903), DNAI1(27019), ZIC3(7547), NPHP3(27031)]
ASTHENIC HABITUS(HP:0001533)	[MED12(9968), RET(5979), COL6A1(1291), FBN2(2201), PLOD1(5351), COL6A2(1292), COL6A3(1293), TGFBR1(7046), COL2A1(1280), ZNF469(84627), TGFB1(7040), NEB(4703)]
ASTHMA(HP:0002099)	[MKKS(8195), BBS5(129880), ERCC2(2068), SPINK5(11005), TRIM32(22954), ERCC3(2071), TBX21(30009), ARL6(84100), FLG(2312), CEP290(80184), BBS12(166379), IDS(3423), BBS9(27241), TTC8(123016), ADA(100), BBS1(582), BBS2(583), BBS4(585), MKS1(54903), BBS10(79738), GTF2H5(404672), CFTR(1080), BBS7(55212), ALMS1(7840), CASP8(841)]
ASTIGMATISM(HP:0000483)	[SMARCAL1(50485), MKKS(8195), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), ARL6(84100), BBS4(585), CEP290(80184), BBS12(166379), NIPBL(25836), VSX1(30813), MKS1(54903), BBS10(79738), TRIM37(4591), CLDN16(10686), BBS7(55212), CACNA1F(778), BBS9(27241), GNPTAB(79158), TTC8(123016)]
ASTROCYTOMA(HP:0009592)	[MSH2(4436), APC(324), MSH6(2956), MLH1(4292), PMS2(5395), NF2(4771)]
ASTROCYTOSIS(HP:0002446)	[CHMP2B(25978), POLG(5428), TSC1(7248)]
ASYMMETRIC LEG SHORTENING(HP:0005618)	[EFNB1(1947)]
ASYMMETRIC LIMB SHORTENING(HP:0005091)	[EBP(10682), EFNB1(1947)]
ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670)	[SGSH(6448), SLC25A4(291), HGSNAT(138050), GNS(2799), MYH7(4625), CAV3(859), NAGLU(4669), MYLK2(85366), PRKAG2(51422)]
ASYMMETRIC, LINEAR SKIN DEFECTS(HP:0007398)	[HCCS(3052)]
ASYMMETRY OF SPINAL FACET JOINTS(HP:0008482)	[VANGL1(81839)]
ASYMPTOMATIC HYPERTHYROXINEMIA(HP:0008212)	[DIO1(1733)]
ATAXIA(HP:0001251)	[TH(7054), PGK1(5230), SUCLG1(8802), CPS1(1373), DCX(1641), AUH(549), TINF2(26277), MMADHC(27249), BBS5(129880), ATXN8(724066), SACS(26278), SETX(23064), SCN1A(6323), ANCR(282), GJC2(57165), SLC6A19(340024), DNAJC19(131118), EDNRB(1910), SLC16A2(6567), ATXN7(6314), ATXN8OS(6315), CP(1356), CDKL5(6792), NPHP1(4867), COX15(1355), ABCB7(22), NPC1(4864), COQ2(27235), ATXN1(6310), ATXN2(6311), BBS9(27241), UQCRB(7381), MYO7A(4647), NKX2-1(7080), TMEM216(51259), PEX7(5191), SURF1(6834), C10orf2(56652), SLC9A6(10479), CACNA1A(773), DBT(1629), C20orf7(79133), MPZ(4359), GJA1(2697), SLC17A5(26503), SIL1(64374), ALDH5A1(7915), SUOX(6821), MAN2B1(4125), NDUFS7(374291), MKKS(8195), PDHA1(5160), LMNB1(4001), APOB(338), GPR56(9289), ALG6(29929), INPP5E(56623), SDHA(6389), BCS1L(617), MECP2(4204), KCTD7(154881), POLG(5428), BBS12(166379), PDP1(54704), PRPS2(5634), FGF14(2259), PSAP(5660), AAAS(8086), PDSS2(57107), CUL4B(8450), KCNC3(3748), PSEN1(5663), ATXN10(25814), CYP27A1(1593), NDUFA1(4694), NDUFA2(4695), PDSS1(23590), UBE3A(7337), FTL(2512), TTC8(123016), C8orf38(137682), OPA1(4976), ABHD5(51099), ATN1(1822), SLC39A4(55630), COX6B1(1340), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), TBP(6908), ATCAY(85300), BBS4(585), NDUFA11(126328), NDUFAF4(29078), KCNA1(3736), NDUFS1(4719), NDUFS3(4722), BCKDHA(593), NDUFV1(4723), BBS10(79738), NDUFS2(4720), BCKDHB(594), PANK2(80025), NDUFS6(4726), BBS7(55212), TTBK2(146057), NDUFS4(4724), FASTKD2(22868), NDUFS8(4728), PMP22(5376), SDHAF1(644096), PRNP(5621), ARSA(410), BTD(686), ERCC2(2068), ERCC3(2071), TRIM32(22954), ZIC4(84107), ITPR1(3708), ARL6(84100), SCARB2(950), PRPS1(5631), SPG7(6687), ERCC6(2074), PLP1(5354), NDUFAF2(91942), SOX10(6663), CSTB(1476), TTR(7276), TMEM67(91147), ATXN3(4287), NPC2(10577), TTPA(7274), ZIC1(7545), CLN8(2055), GAMT(2593), SLC46A1(113235), UQCRQ(27089), PMM2(5373), NEU1(4758), TCN2(6948), MFSD8(256471), NDUFAF3(25915), LRPPRC(10128), SPG11(80208), ASS1(445), DLAT(1737), DKC1(1736), ASL(435), DLD(1738), NF2(4771), SPTBN2(6712), CTSD(1509), MKS1(54903), GABRG2(2566), MLC1(23209), PRKCG(5582), RPIA(22934), PDHX(8050), ETHE1(23474), OPA3(80207), XPA(7507), CTDP1(9150), WFS1(7466), ATP1A2(477), ATM(472), ERCC8(1161), MVK(4598), CEP290(80184), PPT1(5538), SLC2A1(6513), AHI1(54806), BEAN(146227), NME1(4830), GSS(2937), HEXB(3074), ABCD1(215), GFAP(2670), ITM2B(9445), PPP2R2B(5521), COQ9(57017), MFN2(9927), PHYH(5264), CLN5(1203), TPP1(1200), GBA(2629), PDE8B(8622), PNP(4860), APTX(54840), MTTP(4547), CABC1(56997)]
ATAXIA, EPISODIC(HP:0002131)	[CACNA1A(773), PDHA1(5160), KCNA1(3736)]
ATHEROSCLEROSIS(HP:0002621)	[SMARCAL1(50485), GLA(2717), ENPP1(5167), ABCG8(64241), SERPIND1(3053), APOB(338), ABCG5(64240), ABCC6(368), LMNA(4000), LDLR(3949), APOA2(336), APOE(348), LIPC(3990), TTR(7276), LPL(4023), WRN(7486), ALMS1(7840), CYP27A1(1593), MYH9(4627), AGXT(189), APOA1(335), CBS(875)]
ATHETOSIS(HP:0002305)	[AUH(549), SLC17A5(26503), SLC46A1(113235), ST3GAL5(8869), DLAT(1737), PNKD(25953), SMPD1(6609), C10orf2(56652)]
ATHYROIDAL HYPOTHYROIDISM(HP:0008191)	[FOXE1(2304)]
ATLANTOAXIAL ABNORMALITY(HP:0003413)	[COMP(1311), GATA1(2623), DYM(54808), DDR2(4921), GNPTAB(79158), DCR(1637)]
ATLANTOAXIAL DISLOCATION(HP:0003414)	[COMP(1311), GNPTAB(79158)]
ATLANTOAXIAL INSTABILITY(HP:0003467)	[GATA1(2623), DYM(54808), DDR2(4921), DCR(1637)]
ATOPIC DERMATITIS(HP:0001047)	[MAP2K1(5604), MAP2K2(5605), KRAS(3845), BRAF(673)]
ATRIAL ARRHYTHMIAS(HP:0001692)	[MYBPC3(4607), DMPK(1760), GJA5(2702), LMNA(4000), EMD(2010), NPPA(4878), KCNQ1(3784), HCN4(10021), ANK2(287), PRKAG2(51422)]
ATRIAL FIBRILLATION(HP:0005110)	[MYBPC3(4607), GJA5(2702), LMNA(4000), NPPA(4878), KCNQ1(3784), HCN4(10021), ANK2(287), PRKAG2(51422)]
ATRIAL FIBRILLATION MAY OCCUR(HP:0005179)	[HCN4(10021)]
ATRIAL FIBRILLATION OR FLUTTER(HP:0004749)	[MYBPC3(4607), LMNA(4000)]
ATRIAL FIBRILLATION, ISOLATED(HP:0001715)	[GJA5(2702), KCNQ1(3784)]
ATRIAL SEPTAL DEFECT(HP:0001631)	[FBN2(2201), EP300(2033), WHCR(7467), CD96(10225), WHSC1(7468), HCCS(3052), ZEB2(9839), FGFR1(2260), CCBE1(147372), SALL4(57167), TGFBR1(7046), NSD1(64324), EVC2(132884), ATIC(471), FGFR2(2263), STRA6(64220), BRAF(673), ZMPSTE24(10269), FLNB(2317), MAP2K1(5604), MED12(9968), PTPN11(5781), MAP2K2(5605), ESCO2(157570), DHCR7(1717), SOS1(6654), HRAS(3265), NF1(4763), GPC6(10082), NPHP3(27031), UBR1(197131), EVC(2121), NKX2-5(1482), PQBP1(10084), TBX5(6910), BCOR(54880), KRAS(3845), B3GALTL(145173), NODAL(4838), SEMA3E(9723), FAM123B(139285), CREBBP(1387), CRELD1(78987), RAB23(51715), JAG1(182), CHD7(55636)]
ATRIOVENTRICULAR BLOCK(HP:0001678)	[SLC25A20(788), EMD(2010)]
ATRIOVENTRICULAR CONDUCTION DISTURBANCES(HP:0005150)	[LMNA(4000)]
ATRIOVENTRICULAR NODAL DISEASE(HP:0005142)	[LMNA(4000)]
ATRIOVENTRICULAR SEPTAL DEFECT(HP:0010439)	[CRELD1(78987)]
ATROPHIC SCARS(HP:0001075)	[COL5A2(1290), LAMB3(3914), ITGB4(3691), COL5A1(1289), COL7A1(1294), LAMC2(3918), COL1A2(1278), COL1A1(1277), COL3A1(1281), B4GALT7(11285), ITGA6(3655), LAMA3(3909)]
ATROPHIC, PATCHY ALOPECIA(HP:0004529)	[IKBKG(8517)]
ATROPHY OF ALVEOLAR RIDGES(HP:0006308)	[CTSC(1075)]
ATROPHY OF ANKLE AND TOE EXTENSOR MUSCLES(HP:0009031)	[MYH7(4625)]
ATROPHY OF CEREBELLAR VERMIS(HP:0007312)	[CACNA1A(773)]
ATROPHY/DEGENERATION AFFECTING THE BRAINSTEM(HP:0007366)	[PANK2(80025)]
ATROPHY/DEGENERATION AFFECTING THE CENTRAL NERVOUS SYSTEM(HP:0007367)	[PRNP(5621), FKRP(79147), BTD(686), PLA2G6(8398), ATL1(51062), ERCC3(2071), ATXN8(724066), ITPR1(3708), MYH3(4621), SETX(23064), CCT5(22948), MAPT(4137), SPG7(6687), PLP1(5354), KIAA0196(9897), DNAJC19(131118), SPAST(6683), ATXN8OS(6315), ATXN3(4287), GCLC(2729), ABCB7(22), CLN8(2055), TREX1(11277), COQ2(27235), ALS2(57679), UQCRQ(27089), ATXN1(6310), ATXN2(6311), UQCRB(7381), NIPA1(123606), MFSD8(256471), VPS13A(23230), SPG11(80208), MCOLN1(57192), L2HGDH(79944), SPTBN2(6712), C10orf2(56652), CTSD(1509), SLC9A6(10479), CACNA1A(773), PRKCG(5582), SIL1(64374), MAN2B1(4125), BCS1L(617), MVK(4598), POLG(5428), FGF14(2259), PDSS2(57107), KCNC3(3748), PSEN1(5663), ATXN10(25814), BEAN(146227), TREM2(54209), PDSS1(23590), ACY1(95), SMN1(6606), PPP2R2B(5521), COQ9(57017), ALG3(10195), UBA1(7317), VLDLR(7436), TBP(6908), PANK2(80025), IGHMBP2(3508), TTBK2(146057), VRK1(7443), TYROBP(7305), APTX(54840), CABC1(56997)]
ATROPHY/DEGENERATION AFFECTING THE CEREBELLUM(HP:0007368)	[PRNP(5621), FKRP(79147), BTD(686), PLA2G6(8398), ATXN8(724066), ERCC3(2071), ITPR1(3708), MYH3(4621), SETX(23064), SPG7(6687), PLP1(5354), DNAJC19(131118), ATXN8OS(6315), ATXN3(4287), GCLC(2729), CLN8(2055), COQ2(27235), ABCB7(22), UQCRQ(27089), ATXN1(6310), ATXN2(6311), UQCRB(7381), MFSD8(256471), MCOLN1(57192), SPTBN2(6712), L2HGDH(79944), C10orf2(56652), CTSD(1509), SLC9A6(10479), CACNA1A(773), SIL1(64374), PRKCG(5582), MAN2B1(4125), MVK(4598), BCS1L(617), POLG(5428), FGF14(2259), PDSS2(57107), KCNC3(3748), ATXN10(25814), BEAN(146227), PDSS1(23590), ACY1(95), COQ9(57017), PPP2R2B(5521), ALG3(10195), TBP(6908), VLDLR(7436), TTBK2(146057), APTX(54840), CABC1(56997)]
ATROPHY/DEGENERATION AFFECTING THE CEREBRUM(HP:0007369)	[SLC25A15(10166), PRNP(5621), VCP(7415), PLA2G6(8398), BTD(686), SLC25A22(79751), AUH(549), ATRX(546), MMADHC(27249), ANCR(282), GJC2(57165), HSD17B4(3295), SPG7(6687), ERCC6(2074), BRAF(673), CTNS(1497), MAP2K1(5604), SLC35C1(55343), MAP2K2(5605), CDKL5(6792), HRAS(3265), HNF1B(6928), MAPK10(5602), ALS2(57679), TREX1(11277), CLN8(2055), GLB1(2720), SC5DL(6309), GALC(2581), TK2(7084), BMP4(652), ASPA(443), AGA(175), MFSD8(256471), SPG11(80208), PEX7(5191), B3GALTL(145173), L2HGDH(79944), C10orf2(56652), GFM1(85476), MPV17(4358), SLC17A5(26503), SIL1(64374), NAGA(4668), RAB3GAP1(22930), CTDP1(9150), WFS1(7466), PDHA1(5160), FH(2271), ERCC8(1161), ST3GAL5(8869), MVK(4598), MECP2(4204), PSAP(5660), GPHN(10243), PPT1(5538), DGUOK(1716), PSEN1(5663), TREM2(54209), ACY1(95), FUCA1(2517), UBE3A(7337), MOCS2(4338), PQBP1(10084), MOCS1(4337), CHMP2B(25978), PPP2R2B(5521), ALG3(10195), ALG1(56052), TBP(6908), KRAS(3845), MMACHC(25974), PCCB(5096), TPP1(1200), GRN(2896), CLN3(1201), PANK2(80025), GBA(2629), TYROBP(7305), MTR(4548), PCCA(5095)]
ATROPHY/DEGENERATION INVOLVING MOTOR NEURONS(HP:0007373)	[SMN1(6606), PSEN1(5663), UBA1(7317), IGHMBP2(3508), ALS2(57679), SETX(23064), VRK1(7443), MAPT(4137)]
ATROPHY/DEGENERATION INVOLVING THE CAUDATE NUCLEUS(HP:0007374)	[VPS13A(23230), TREM2(54209), TYROBP(7305)]
ATROPHY/DEGENERATION INVOLVING THE CORTICOSPINAL TRACTS(HP:0007372)	[NIPA1(123606), ATL1(51062), SPG11(80208), SPG7(6687), KIAA0196(9897), PLP1(5354), SPAST(6683)]
ATROPHY/DEGENERATION INVOLVING THE SPINAL CORD(HP:0007344)	[CCT5(22948), POLG(5428), C10orf2(56652)]
ATROPHY/DEGENERATION OF THE CORPUS CALLOSUM(HP:0007371)	[L2HGDH(79944)]
ATTACKS OF DISABLING DAYTIME DROWSINESS AND LOW ALERTNESS(HP:0002330)	[HCRT(3060)]
ATTENTION DEFICIT HYPERACTIVITY DISORDER(HP:0007018)	[MED12(9968), THRB(7068), DGCR(1714), SLITRK1(114798), PRKCG(5582), TBX1(6899), FGD1(2245), GNE(10020), SLC6A8(6535)]
ATYPICAL HYPERPHENYLALANINEMIA(HP:0004922)	[GCH1(2643)]
ATYPICAL NEVI (>5MM WITH IRREGULAR EDGE AND PIGMENTATION)(HP:0001062)	[CDK4(1019)]
ATYPICAL NEVI OFTEN PRESENT IN NON-SUN EXPOSED AREAS(HP:0001074)	[CDK4(1019)]
ATYPICAL SCARRING(HP:0000987)	[SMARCAL1(50485), LAMB3(3914), LAMC2(3918), COL17A1(1308), ERCC8(1161), UROS(7390), ERCC6(2074), TFAP2A(7020), B4GALT7(11285), LAMA3(3909), COL5A2(1290), ITGB4(3691), COL5A1(1289), COL7A1(1294), TGM5(9333), COL1A2(1278), ZNF469(84627), COL3A1(1281), COL1A1(1277), PLEC(5339), ITGA6(3655)]
AUDITORY CANAL ABNORMALITY(HP:0000372)	[TCOF1(6949), FKRP(79147), FRAS1(80144), WHCR(7467), WHSC1(7468), LARGE(9215), FGFR1(2260), SALL4(57167), TP63(8626), PORCN(64840), FGFR2(2263), B3GALTL(145173), GLI3(2737), EYA1(2138), FKTN(2218), CHRNG(1146), CECR(1055), FREM2(341640), POMT1(10585), POMT2(29954)]
AUDITORY HALLUCINATIONS(HP:0008765)	[CACNA1A(773)]
AUTISM(HP:0000717)	[MED12(9968), NHS(4810), DHCR7(1717), ADSL(158), NLGN4X(57502), ALDH5A1(7915), TSC1(7248), TSC2(7249), FMR1(2332)]
AUTOAMPUTATION(HP:0001218)	[WNK1(65125), NTRK1(4914), RAB7A(7879), CCT5(22948), NGF(4803), SPTLC1(10558), GJB2(2706)]
AUTOAMPUTATION (FEET)(HP:0001868)	[RAB7A(7879), SPTLC1(10558)]
AUTOAMPUTATION OF DIGITS(HP:0007460)	[GJB2(2706)]
AUTOFLUORESCENT LIPOPIGMENT IN NEURONS(HP:0002074)	[CTSD(1509), CLN5(1203), PPT1(5538), TPP1(1200), CLN3(1201), CLN8(2055), CLN6(54982)]
AUTOIMMUNE DISEASE(HP:0002960)	[C1QA(712), C7(730), C1R(715), C8A(731), C2(717), C4A(720), PEPD(5184), SERPING1(710), C5(727)]
AUTOIMMUNE HEMOLYTIC ANEMIA(HP:0001890)	[FOXP3(50943), ADA(100), FAS(355), PNP(4860), CASP10(843), CD247(919), NBN(4683)]
AUTOIMMUNE NEUTROPENIA(HP:0001904)	[FAS(355), PNP(4860), CASP10(843)]
AUTONOMIC DYSFUNCTION(HP:0002387)	[SNCA(6622), GLA(2717), AAAS(8086), TTR(7276), LMNB1(4001), ATXN3(4287), NTRK1(4914)]
AUTONOMIC DYSFUNCTION EARLY(HP:0007310)	[TTR(7276)]
AUTONOMIC DYSREGULATION(HP:0002271)	[SOX10(6663), EDNRB(1910)]
AUTOPHAGIC VACUOLES(HP:0003736)	[CRYAB(1410), LDB3(11155)]
AUTOSOMAL DOMINANT CONGENITAL STATIONARY NIGHT BLINDNESS(HP:0007861)	[PDE6B(5158)]
AUTOSOMAL DOMINANT CONTIGUOUS GENE SYNDROME(HP:0001452)	[RPS14(6208), PAX3(5077)]
AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)	[FBN1(2200), FBN2(2201), EFEMP1(2202), A2M(2), TINF2(26277), SPINK5(11005), TRIM24(8805), PPOX(5498), FBLN1(2192), NAT1(9), H19(283120), EDARADD(128178), SLC16A1(6566), KCNQ1OT1(10984), HRAS(3265), SNAI2(6591), ABL1(25), ABCA4(24), MATR3(9782), HRG(3273), CHRNA1(1134), FECH(2235), PPARG(5468), NOD2(64127), HSPB1(3315), SART3(9733), CHML(1122), MPL(4352), HSF4(3299), MPZ(4359), CHRNE(1145), CHRND(1144), ACTA1(58), PON1(5444), CHRNB1(1140), TNFRSF11A(8792), CHRNA4(1137), ACTB(60), ZNF35(7584), DISC2(27184), ACTG1(71), FH(2271), ZEB2(9839), FGFR1(2260), FGFR3(2261), CDKN1B(1027), FGFR2(2263), POLG(5428), CDKN1C(1028), CDKN2A(1029), FGF14(2259), CEACAM5(1048), FAM83H(286077), FGF10(2255), CEBPA(1050), SOS1(6654), HSPB8(26353), HOXA11(3207), CECR(1055), CDSN(1041), HOXA13(3209), SOD1(6647), ACVRL1(94), EDAR(10913), GDF6(392255), FGA(2243), FES(2242), ACVR1(90), CES1(1066), FOXC2(2303), CNBP(7555), ADAR(103), MSH2(4436), HPGD(3248), FOXE3(2301), CCM2(83605), SFTPA2(729238), FOXC1(2296), WNK1(65125), TRPV4(59341), SNCA(6622), SNCB(6620), HOXD13(3239), RB1CC1(9821), HOXD10(3236), HPD(3242), PMP22(5376), TUBB2B(347733), PRNP(5621), DEC1(50514), ERCC2(2068), EYA4(2070), SFTPD(6441), PHOX2B(8929), ERCC5(2073), PRPS1(5631), KIAA0196(9897), PROC(5624), PROS1(5627), TRIM33(51592), MAP2K1(5604), MAP2K2(5605), SH3BP2(6452), EPHX1(2052), HMBS(3145), SH3GL1(6455), PRKCSH(5589), PRPF31(26121), TLX1(3195), SGCE(8910), AFP(174), SOX18(54345), WT2(7491), WT1(7490), MSX2(4488), KISS1R(84634), PRKAR1A(5573), MIPOL1(145282), PRKCG(5582), COL1A2(1278), WNT4(54361), HNF4A(3172), ACAN(176), COL1A1(1277), OPA3(80207), PRKCA(5578), JAG1(182), MSX1(4487), EXT2(2132), GJB6(10804), MYBPC3(4607), AKT1(207), SQSTM1(8878), HK1(3098), WFS1(7466), SEPT9(10801), SIX3(6496), APOA5(116519), EXT1(2131), AK1(203), EWSR1(2130), MYB(4602), MUTYH(4595), EYA1(2138), WNT10B(7480), ALDH1A1(216), SLC2A1(6513), BEAN(146227), ETV1(2115), PRCC(5546), GDAP1(54332), CFH(3075), CLCN1(1180), AKT2(208), ETV6(2120), EVC(2121), SLC4A1(6521), CLCN7(1186), PPP2R2B(5521), SHH(6469), BEST1(7439), MFN2(9927), SUFU(51684), PROM1(8842), F13A1(2162), HLA-DRA(3122), GMPS(8833), SHOX(6473), VHL(7428), WNK4(65266), PPP1R3A(5506), VWF(7450), F2(2147), DLEC1(9940), ALPL(249), MTR(4548), HLA-A(3105), MNX1(3110), GOLGA5(9950), SCN5A(6331), VCP(7415), SCN4A(6329), SCN9A(6335), CPOX(1371), PGD(5226), SCN1A(6323), ANCR(282), NSD1(64324), VDR(7421), LMBR1(64327), MAPT(4137), MAT1A(4143), ANK2(287), SLC6A19(340024), ANK1(286), SCN2A(6326), RNF139(11236), ATXN7(6314), AMBP(259), ATXN8OS(6315), PHB(5245), MATN3(4148), KIF21A(55605), GNE(10020), HCN4(10021), IHH(3549), ATXN1(6310), AMPD1(270), ATXN2(6311), UPK3A(7380), SALL1(6299), CRX(1406), TSPAN31(6302), AIP(9049), UROD(7389), PSTPIP1(9051), GNASAS(149775), UQCRC1(7384), NR2E3(10002), C10orf2(56652), SLC25A4(291), KCNE2(9992), FSHR(2492), SEC63(11231), CREBBP(1387), UMOD(7369), SLC6A20(54716), COMP(1311), APOB(338), LZTS1(11178), APOA4(337), APOA2(336), SDHD(6392), SDHC(6391), PDGFB(5155), COL9A3(1299), APP(351), SDHB(6390), COL9A2(1298), COL9A1(1297), COL8A2(1296), MECP2(4204), PDGFRB(5159), PDE6B(5158), COL11A2(1302), COL11A1(1301), PDGFRL(5157), AIRE(326), COL5A2(1290), COL6A1(1291), APC(324), COL5A1(1289), COL7A1(1294), PIKFYVE(200576), MEFV(4210), COL6A2(1292), COL6A3(1293), LEMD3(23592), COL4A1(1282), FUCA2(2519), APOA1(335), COL2A1(1280), IGF1R(3480), UBE3A(7337), MEN1(4221), COL3A1(1281), FTL(2512), COL4A3(1285), BSCL2(26580), UBB(7314), ABCC6(368), GLMN(11146), DARC(2532), IGHG1(3500), MCL1(4170), AQP2(359), TTBK2(146057), FAS(355), SCNN1G(6340), IGKC(3514), SCNN1A(6337), CHD7(55636), SCNN1B(6338), LDB3(11155), LGI1(9211), DIRC2(84925), TWIST1(7291), LPAR6(10161), FLG(2312), FLNC(2318), GRHL2(79977), CTNNB1(1499), CIITA(4261), FLNB(2317), FLT3(2322), TTR(7276), ATXN3(4287), MITF(4286), TTN(7273), FLT4(2324), FN1(2335), NKX2-5(1482), ASNS(440), OPTN(10133), MET(4233), PKP2(5318), TST(7263), OSMR(9180), PKLR(5313), PLAG1(5324), TSHR(7253), VKORC1(79001), PLAT(5327), PLA2G2A(5320), TSC1(7248), TSC2(7249), ENAM(10117), AMLCR2(9163), KITLG(4254), CRELD1(78987), SLC6A5(9152), PLEC(5339), ATP1A3(478), MBD5(55777), TRPS1(7227), EGLN1(54583), RYR1(6261), ATP1A2(477), MN1(4330), BCMO1(53630), PIK3CA(5290), HSPD1(3329), MMP13(4322), PRKAG2(51422), CRYBA1(1411), SERPINC1(462), CRYAB(1410), KCNQ4(9132), PRPF3(9129), MOS(4342), PKD2(5311), PKD1(5310), PITX3(5309), CRYGD(1421), HR(55806), PITX2(5308), MLLT3(4300), MLL(4297), VCAN(1462), MLLT1(4298), AFF1(4299), MLH1(4292), MLF1(4291), CST3(1471), CSF3R(1441), PI3(5266), RPS14(6208), ATP2A2(488), TPM2(7169), TPM1(7168), RPS19(6223), FXYD2(486), TPM3(7170), MASTL(84930), TH(7054), RET(5979), AVP(551), GLUD1(2746), TGIF1(7050), ATXN8(724066), TGFBR2(7048), PROK2(60675), TGFBR1(7046), GLRB(2743), DCK(1633), GLRA1(2741), VAPB(9217), TGFBI(7045), NRAS(4893), TGFB3(7043), DCTN1(1639), REN(5972), TGFB1(7040), GLI3(2737), SATB2(23314), PRPH2(5961), NOG(9241), NPM1(4869), BRIP1(83990), LRRK2(120892), THRB(7068), GCM2(9247), KIT(3815), REG1A(5967), THRA(7067), THPO(7066), ADAMTS10(81794), NPPA(4878), RCVRN(5957), GPC3(2719), NKX2-1(7080), NTRK1(4914), KIF5A(3798), PICALM(8301), TIMP2(7077), TIMP3(7078), ROR2(4920), GJB2(2706), GJB3(2707), RFX5(5993), GJA8(2703), GJA5(2702), RFXAP(5994), KCNMA1(3778), GJA1(2697), DCC(1630), KCNQ2(3785), VANGL1(81839), FST(10468), KCNQ1(3784), GIP(2695), KCNQ3(3786), AXIN1(8312), KDR(3791), DBI(1622), KCNJ11(3767), GP1BA(2811), OPN1SW(611), ARHGEF12(23365), RARA(5914), GDF5(8200), FGF23(8074), KCNJ13(3769), KCNC3(3748), ATXN10(25814), TUBB3(10381), TNFRSF1A(7132), KCNJ2(3759), KCNH2(3757), CYP19A1(1588), GPR98(84059), KCNE1(3753), CYP11B1(1584), CYP2A6(1548), CD82(3732), OPA1(4976), GNAS(2778), RBP4(5950), CYP1A2(1544), JUP(3728), TNXB(7148), CYP1B1(1545), TNNI2(7136), CYLD(1540), TNNI3(7137), CYP1A1(1543), GNAI2(2771), TNNT2(7139), KCNA1(3736), TNNT3(7140), NIPBL(25836), PABPN1(8106), SDHAF2(54949), IGHR(8117), JAK2(3717), CCND1(595), ZFPM2(23414), TPBG(7162), TCL1A(8115), TPI1(7167), RB1(5925), OGG1(4968), CYP2C9(1559), TP53(7157), DMPK(1760), ATL1(51062), RP1(6101), RP9(6100), ITPR1(3708), HNF1A(6927), TBX3(6926), BRCA2(675), BRAF(673), GARS(2617), ITGB4(3691), SLC22A18(5002), CCDC6(8030), NCOA4(8031), HNF1B(6928), MLLT10(8028), TREX1(11277), DNM2(1785), ROM1(6094), NUP214(8021), ITGA2(3673), TCOF1(6949), DIAPH1(1729), BMP4(652), SERPINE1(5054), DIO1(1733), ZFHX4(79776), IRF6(3664), BFSP2(8419), TRA@(6955), PRX(57716), MYH14(79784), FOXL2(668), GABRG2(2566), DLX3(1747), P4HB(5034), CSRP3(8048), RAD54L(8438), BMPR1A(657), BMPR1B(658), WHSC1L1(54904), BMPR2(659), PAX6(5080), PBX1(5087), INSR(3643), EHMT1(79813), FLCN(201163), TNFRSF13B(23495), FZD4(8322), PAX4(5078), PAX3(5077), PAX2(5076), INS(3630), CA4(762), DHFR(1719), GPHN(10243), GDF1(2657), DGCR(1714), PAPPA(5069), TEAD1(7003), GFAP(2670), TECTA(7007), GDNF(2668), ITM2B(9445), C1QA(712), IMPDH1(3614), TEK(7010), GCK(2645), TERC(7012), TERT(7015), C3(718), TF(7018), TFAP2B(7021), TFAP2A(7020), PCM1(5108), DES(1674), SERPING1(710), GATA3(2625), C8A(731), DFNA5(1687), C8B(732), RNF6(6049), GJB4(127534), CHST3(9469), TGFA(7039), PITPNM3(83394), MYCN(4613), TBX4(9496), MYOT(9499), LYL1(4066), LYZ(4069), NELF(26012), SETX(23064), MYH3(4621), SALL4(57167), EDNRA(1909), MYF6(4618), GUCA1A(2978), MANF(7873), MYH11(4629), PDE11A(50940), GUCY2D(3000), CDKL5(6792), MYH7(4625), STK11(6794), MYH8(4626), PTCH1(5727), MYH9(4627), RAB7A(7879), FOXP2(93986), SMAD4(4089), SMAD9(4093), ELOVL4(6785), MYO7A(4647), NIPA1(123606), YARS(8565), WWOX(51741), PTGS1(5742), KIF1B(23095), PTH(5741), MYOC(4653), LRP5(4041), ISCW(7928), PTEN(5728), ABCC8(6833), VSX1(30813), CACNA1A(773), LITAF(9516), CACNB2(783), PTH1R(5745), CACNA1S(779), TOR1A(1861), HBQ1(3049), HBG2(3048), PRSS1(5644), HBZ(3050), LMNB1(4001), SERPIND1(3053), LMNA(4000), C1QTNF5(114902), MINPP1(9562), KRIT1(889), HBA2(3040), HBB(3043), TAC3(6866), LOR(4014), HBD(3045), HBG1(3047), TACR3(6870), LMX1B(4010), HBE1(3046), PSAP(5660), HTT(3064), SERPINA6(866), LPL(4023), HBEGF(1839), PSEN1(5663), DSP(1832), PRTN3(5657), NDP(4693), DSPP(1834), LPA(4018), DSG1(1828), DSG2(1829), DSC2(1824), HCRT(3060), LPP(4026), ALX4(60529), ATN1(1822), ANKH(56172), LHCGR(3973), LHB(3972), TBX5(6910), TBP(6908), TBX1(6899), CAV3(859), PSG1(5669), DRD2(1813), RUNX1(861), RUNX2(860), PSEN2(5664), TUBA1A(7846), LIPC(3990), NDUFV1(4723), HBA1(3039), DPEP1(1800), CASP10(843), UBIAD1(29914), CXCR4(7852), CASP8(841), CASR(846), TAL1(6886), CAT(847), HAGH(3029), PPM1D(8493), EP300(2033), LDLR(3949), EPB42(2038), NEFL(4747), STOM(2040), CD36(948), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NF1(4763), ENG(2022), ANO5(203859), SLC36A2(153201), PTCH2(8643), SPTB(6710), SPTA1(6708), LAMB1(3912), GPI(2821), ELN(2006), PRPF8(10594), CD4(920), CD247(919), CD3E(916), NF2(4771), SPTBN2(6712), LCAT(3931), LBR(3930), ELANE(1991), ARHGEF10(9639), SPINK1(6690), JPH3(57338), STX16(8675), THAP1(55145), CDK4(1019), KRT81(3887), ZBTB16(7704), CDC73(79577), KRT17(3872), PTPN11(5781), EGR2(1959), ATP2C1(27032), L1CAM(3897), FBLN5(10516), NME1(4830), GSN(2934), KRT86(3892), KRT83(3889), KRT85(3891), CDH1(999), KRT6B(3854), CHMP2B(25978), CDK11B(984), KRT5(3852), KRT6A(3853), STAT3(6774), KRT3(3850), KRT4(3851), KRT1(3848), KRT2(3849), NLRP3(114548), TP63(8626), RFXANK(8625), KRAS(3845), SEMA3E(9723), SSTR5(6755), KRT16(3868), GRN(2896), SLITRK1(114798), PDE8B(8622), SLC34A3(142680), KRT14(3861), KRT13(3860), PNKD(25953), KRT12(3859), SPTLC1(10558), NOTCH3(4854), KRT10(3858), KRT9(3857), PVR(5817), NR3C1(2908)]
AUTOSOMAL DOMINANT MUTATION OF KERATIN 5 (KRT5(HP:0001447)	[ITGB4(3691), KRT5(3852), GJA1(2697), SCNN1G(6340), KRT14(3861), SCNN1A(6337), SCNN1B(6338)]
AUTOSOMAL DOMINANT SOMATIC CELL MUTATION(HP:0001444)	[LYL1(4066), RUNX1(861)]
AUTOSOMAL DOMINANT WITH VARIABLE EXPRESSION AND INCOMPLETE PENETRANCE(HP:0001463)	[GJA1(2697)]
AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)	[FBN1(2200), ADAMTSL4(54507), HIBCH(26275), FBP1(2203), SPINK5(11005), SACS(26278), CCBE1(147372), DPM1(8813), EDARADD(128178), TRPM6(140803), SLC22A5(6584), FAH(2184), ABCA1(19), ABAT(18), FANCD2(2177), FANCC(2176), ABCA4(24), ACADM(34), FECH(2235), ACADS(35), ACADL(33), ACAT1(38), ACADSB(36), ACADVL(37), SLC5A5(6528), NEUROG3(50674), B3GALTL(145173), ACOX1(51), FKTN(2218), MPO(4353), MPL(4352), SLC12A3(6559), MPZ(4359), MPV17(4358), ACP2(53), SLC12A1(6557), TNFRSF10B(8795), PUS1(80324), WNT10A(80326), FH(2271), LHX4(89884), FGFR1(2260), FGFR2(2263), FGF3(2248), FGB(2244), ACY1(95), SOD1(6647), EDAR(10913), FGA(2243), SMN1(6606), MSH2(4436), ADA(100), FOXE3(2301), FOXI1(2299), FOXF1(2294), NDUFA11(126328), ALOXE3(59344), WNK1(65125), TUBB2B(347733), SMPD1(6609), ERBB3(2065), ERBB2(2064), ABCA12(26154), ERCC2(2068), ERCC3(2071), SFTPB(6439), ERCC5(2073), ERCC4(2072), SGCB(6443), SGCA(6442), ERCC6(2074), SGCG(6445), SGSH(6448), C7orf11(136647), MTHFR(4524), BLOC1S3(388552), TMEM67(91147), ADSL(158), CLN8(2055), SYCP3(50511), MFRP(83552), AGA(175), MFSD8(256471), SPG11(80208), SOX18(54345), MTMR2(8898), FTCD(10841), ETFDH(2110), ETFB(2109), ETFA(2108), AGTR1(185), NR0B1(190), AHCY(191), AGXT(189), AGL(178), KIAA1279(26128), OPA3(80207), AGT(183), AK2(204), EXT1(2131), ST3GAL5(8869), CEP290(80184), MVK(4598), MUSK(4593), SLC1A1(6505), MUT(4594), EIF2B2(8892), EIF2B5(8893), TRIM37(4591), SLC2A2(6514), SLC17A3(10786), EIF2B4(8890), EIF2B3(8891), SLC5A2(6524), GDAP1(54332), EVC(2121), PHGDH(26227), ALAD(210), PCDH15(65217), SLC5A1(6523), SMARCAL1(50485), FRAS1(80144), F13B(2165), F12(2161), F11(2160), WISP3(8838), ALDOB(229), TSEN54(283989), SI(6476), ALDOA(226), SHOX(6473), WNK4(65266), ALDH3A2(224), MTRR(4552), ALPL(249), F10(2159), MTR(4548), ALOX12B(242), MTTP(4547), F7(2155), F5(2153), AMT(275), SCN5A(6331), BIN1(274), SCN9A(6335), NAGS(162417), CLDN1(9076), HPS5(11234), MAT1A(4143), SLC6A19(340024), SLC4A11(83959), SLC7A7(9056), MATN3(4148), PAPSS2(9060), MC2R(4158), SC5DL(6309), NUP62(23636), DCAF17(80067), SAG(6295), C10orf2(56652), FSHB(2488), FSHR(2492), SLC17A5(26503), CNNM4(26504), MAN2B1(4125), MANBA(4126), SLC6A20(54716), TREH(11181), CNGB3(54714), INPP5E(56623), SDHA(6389), APOE(348), PDP1(54704), AMACR(23600), APOC2(344), AIRE(326), MEFV(4210), FUT1(2523), PDSS1(23590), FUCA1(2517), RASSF1(11186), BSCL2(26580), CHST6(4166), SLC37A4(2542), ABCC6(368), G6PC(2538), ARG1(383), MCM6(4175), PANK2(80025), AQP2(359), APRT(353), SCNN1G(6340), GAA(2548), UGT1A1(54658), SCNN1A(6337), SCNN1B(6338), ARSA(410), ARSB(411), FOXE1(2304), LARGE(9215), FOXO1(2308), MGP(4256), PHOX2A(401), FLNB(2317), FMO3(2328), ASPA(443), ASS1(445), TRIOBP(11078), KERA(11081), ASL(435), L2HGDH(79944), ASAH1(427), ADAMTS13(11093), SLC6A5(9152), MGAT2(4247), CTDP1(9150), RYR1(6261), ATM(472), ATIC(471), MPI(4351), FXN(2395), MOCS2(4338), MOCS1(4337), MLH1(4292), ALDH7A1(501), HYLS1(219844), ANTXR2(118429), MMP2(4313), HPS4(89781), TBX19(9095), TH(7054), PLCE1(51196), AUH(549), NPR2(4882), TGM1(7051), ATR(545), GLRB(2743), CLN6(54982), GLRA1(2741), CRBN(51185), SLC25A38(54977), SLC11A2(4891), MCCC1(56922), GLI3(2737), DCXR(51181), B2M(567), GLE1(2733), THRB(7068), NPHS1(4868), GLDC(2731), NPHP1(4867), GCLC(2729), NPC1(4864), EMG1(10436), MYO15A(51168), GLB1(2720), TK2(7084), COLQ(8292), EPX(8288), NTRK1(4914), DYSF(8291), MRPS22(56945), CRTAP(10491), SEC23A(10484), ATP6V1B1(525), ROR2(4920), DDR2(4921), GJB2(2706), SEC23B(10483), GTF2H5(404672), RAB3GAP2(25782), GJA1(2697), ATP7B(540), GIF(2694), PROKR2(128674), GH1(2688), GHR(2690), SAR1B(51128), GP1BA(2811), MKKS(8195), FBXO7(25793), GP9(2815), GP1BB(2812), OCA2(4948), NDRG1(10397), GDF5(8200), BCS1L(617), COL18A1(80781), GNS(2799), GNRHR(2798), SBDS(51119), GNRH1(2796), OAT(4942), TNF(7124), ABHD5(51099), TNFRSF11B(4982), BBS1(582), BBS2(583), BBS4(585), TNNT1(7138), BCHE(590), SIX6(4990), BCKDHA(593), GM2A(2760), BCKDHB(594), OGDH(4967), TP53(7157), SDHAF1(644096), BTD(686), PLA2G6(8398), TBXAS1(6916), OXCT1(5019), TBX15(6913), EFEMP2(30008), TMPRSS3(64699), TBX21(30009), CC2D1A(54862), BRAF(673), BUB1B(701), SLC22A18(5002), GALT(2592), GAMT(2593), SLC46A1(113235), TCIRG1(10312), PAH(5053), GALC(2581), TCN2(6948), GALE(2582), GALNS(2588), GALNT3(2591), BLM(641), PSAT1(29968), GALK1(2584), MKS1(54903), BPGM(669), SLC22A12(116085), GNPAT(8443), DMGDH(29958), MRPS16(51021), BMPR1B(658), POMT2(29954), GAD1(2571), PAX7(5081), GGCX(2677), NLRP7(199713), B4GALT1(2683), PAX3(5077), ZMPSTE24(10269), GPHN(10243), CA2(760), GDF1(2657), PARK2(5071), RAX(30062), AHI1(54806), FAM20C(56975), DYM(54808), SAMD9(54809), C1R(715), GCH1(2643), COQ9(57017), C2(717), PCNT(5116), SOST(50964), PCK1(5105), CHST14(113189), PCK2(5106), TF(7018), GCSH(2653), PCCB(5096), C6(729), C7(730), GBA(2629), C4A(720), GBE1(2632), APTX(54840), PC(5091), PCBD1(5092), TG(7038), CABC1(56997), PCCA(5095), GCDH(2639), GULOP(2989), P2RY12(64805), GUSB(2990), SLURP1(57152), AGPS(8540), GJC2(57165), CAPN3(825), MYF6(4618), IKBKAP(8518), GUCY2D(3000), MYH7(4625), USH1G(124590), AURKC(6795), GYS2(2998), ELOVL4(6785), CANT1(124583), MYO7A(4647), MYO5B(4645), MSH6(2956), SLC25A20(788), SEPN1(57190), MYO5A(4644), MCOLN1(57192), SURF1(6834), ABCC8(6833), LMF1(64788), AP3B1(8546), NAGA(4668), NAGLU(4669), SUOX(6821), TCAP(8557), ICOS(29851), EVC2(132884), ALG6(29929), NBN(4683), CYP2R1(120227), NCF2(4688), PDSS2(57107), SERPINA6(866), SPINT2(10653), NDUFA1(4694), NDUFA2(4695), FOXN1(8456), CBS(875), NEB(4703), TBCE(6905), CAV3(859), TBX1(6899), ATCAY(85300), PEX3(8504), NDUFS1(4719), TAP1(6890), NDUFS3(4722), TAP2(6891), NDUFV1(4723), DLL3(10683), NDUFS2(4720), HADHB(3032), HADH(3033), BBS7(55212), NDUFS6(4726), CLDN16(10686), TAPBP(6892), NDUFS4(4724), DHH(50846), AGRN(375790), NDUFS8(4728), CASP8(841), HADHA(3030), PRSS12(8492), CD40(958), SLC4A4(8671), SLC19A2(10560), SCARB2(950), SPG7(6687), SLC34A2(10568), NDUFAF2(91942), ALDH4A1(8659), NPC2(10577), GPX1(2876), ABCB11(8647), NEU1(4758), POMT1(10585), ANO5(203859), SPTA1(6708), CD8A(925), NDUFAF3(25915), AKR1D1(6718), SRD5A2(6716), D2HGDH(728294), CD3G(917), PNPO(55163), GFM1(85476), SPINK1(6690), SPR(6697), TNFSF11(8600), GRM6(2916), NGF(4803), CDH3(1001), PINK1(65018), FBLN5(10516), GSS(2937), GSR(2936), STAR(6770), ST14(6768), STAT1(6772), NODAL(4838), MMACHC(25974), PNP(4860), SLC34A3(142680), AGPAT2(10555), SLC35A1(10559), FKRP(79147), CHAT(1103), MMADHC(27249), MCCC2(64087), HSD17B3(3293), HSD17B4(3295), DNAJC19(131118), HSD11B2(3291), SLC35C1(55343), GNMT(27232), COQ2(27235), CDH23(64072), CTSA(5476), DOLK(22845), PPIB(5479), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), TMC1(117531), LYST(1130), C20orf7(79133), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), CHRNB1(1140), BBS12(166379), POLG(5428), KCTD7(154881), CEBPE(1053), ASPM(259266), C8orf38(137682), HPGD(3248), PNLIP(5406), PMS2(5395), HPS1(3257), CFTR(1080), FASTKD2(22868), CUL7(9820), CTSC(1075), GNPTG(84572), HPD(3242), PMP22(5376), ZAP70(7535), TRIM32(22954), CCT5(22948), PRPS1(5631), ROBO3(64221), STRA6(64220), PRODH(5625), PROC(5624), HMGCL(3155), PROP1(5626), MAPK10(5602), FAM126A(84668), ABCC2(1244), HLCS(3141), HOXA2(3199), ABCG8(64241), ABCG5(64240), XDH(7498), CNGA3(1261), FGD4(121512), WT1(7490), PRKAR1A(5573), COL1A2(1278), RPIA(22934), XPC(7508), ZNF469(84627), COL1A1(1277), RAB3GAP1(22930), XPA(7507), HK1(3098), WFS1(7466), ERCC8(1161), WNT10B(7480), HGD(3081), HGF(3082), PPT1(5538), NCF1(653361), WRN(7486), WNT3(7473), HEXA(3073), CFH(3075), WNT7A(7476), CLCN1(1180), HFE(3077), NOP10(55505), MFN2(9927), VLDLR(7436), CLCNKB(1188), VHL(7428), VWF(7450), CLN5(1203), TPP1(1200), CLN3(1201), GORAB(92344), DLEC1(9940), MCEE(84693), VRK1(7443), CARD9(64170), PPP2R1B(5519), LEPRE1(64175), CPT1A(1374), CPS1(1373), CPN1(1369), PGAM2(5224), LMBR1(64327), VDR(7421), GLRX5(51218), FERMT1(55612), ESCO2(157570), USH2A(7399), CP(1356), COX15(1355), PGR(5241), GNE(10020), IHH(3549), CLRN1(7401), UQCRB(7381), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), UROS(7390), NT5C3(51251), CRH(1392), PEPD(5184), NR2E3(10002), SCO2(9997), PFKM(5213), UMPS(7372), SIL1(64374), ATP8B1(5205), SLC12A6(9990), UNG(7374), CPT2(1376), IFNGR1(3459), ENPP1(5167), COL17A1(1308), NHP2(55651), COL11A2(1302), TSFM(10102), COL6A1(1291), COL7A1(1294), IGF1(3479), COL6A2(1292), COL6A3(1293), GPC6(10082), USH1C(10083), IGF1R(3480), SLC26A4(5172), TTC8(123016), PEX26(55670), POMGNT1(55624), VPS13B(157680), COX6B1(1340), SLC39A4(55630), SPG21(51324), FLVCR2(55640), TYR(7299), IGHMBP2(3508), MAP3K8(1326), CDAN1(146059), COMT(1312), TYROBP(7305), TYRP1(7306), SLC25A15(10166), PLOD1(5351), SLC25A13(10165), CTH(1491), SERPINF2(5345), TULP1(7287), PLOD2(5352), CTNS(1497), IYD(389434), CSTB(1476), TTPA(7274), TTN(7273), PMM2(5373), AASS(10157), LRPPRC(10128), PKLR(5313), PKHD1(5314), TSPYL1(7259), TSHB(7252), TSHR(7253), SP110(3431), CYBA(1535), CYB5A(1528), CFI(3426), CTSD(1509), ENAM(10117), PLG(5340), CTSK(1513), POMP(51371), PLEC(5339), HSPG2(3339), CD96(10225), PIK3CA(5290), HSPD1(3329), LMBRD1(55788), PRKAG2(51422), PRG4(10216), TRH(7200), MLPH(79083), HR(55806), ALG3(10195), MMAB(326625), HYAL1(3373), DCLRE1C(64421), CDK5RAP2(55755), PHKB(5257), MCFD2(90411), SERPINA1(5265), PHYH(5264), TPM3(7170), TPO(7173), TPMT(7172), DDB1(1642), SH3TC2(79628), DDB2(1643), CENPJ(55835), MMAA(166785), DDC(1644), GAN(8139), ACE(1636), REN(5972), RDX(5962), CRLF1(9244), ADAMTS10(81794), RPGRIP1L(23322), KLKB1(3818), SBF2(81846), KHK(3795), GRK1(6011), DYNC2H1(79659), RHAG(6005), MCPH1(79648), MARVELD2(153562), TMPRSS6(164656), DBT(1629), KCNQ2(3785), KCNQ1(3784), DBH(1621), NPHP4(261734), NDUFS7(374291), CYP11A1(1583), KCNJ11(3767), CYP4V2(285440), GPR56(9289), RAPSN(5913), FGF23(8074), MED25(81857), AAAS(8086), CYP27B1(1594), RAG2(5897), CYP27A1(1593), UROC1(131669), RAG1(5896), KCNJ1(3758), CYP21A2(1589), GPR98(84059), CYP17A1(1586), CYP11B2(1585), DTNBP1(84062), CYP11B1(1584), JUP(3728), TRIP11(9321), CYP1B1(1545), NDUFAF4(29078), CYBB(1536), ATP13A2(23400), PABPN1(8106), CYP2D6(1565), BBS10(79738), SNAP29(9342), DOK7(285489), IVD(3712), CYP2C19(1557), TGM5(9333), MLYCD(23417), CRB1(23418), AMN(81693), SLC25A22(79751), RPGR(6103), RP2(6102), ARL6(84100), B4GALT7(11285), ITGB3(3690), ITGB4(3691), ITGB2(3689), ALS2(57679), TREX1(11277), CUBN(8029), KL(9365), DNM2(1785), LHX3(8022), DNMT3B(1789), ITGA2B(3674), OTOF(9381), GRHPR(9380), DLAT(1737), PARK7(11315), DLD(1738), CFC1(55997), PRX(57716), IRF1(3659), DOCK8(81704), RPE65(6121), RECQL4(9401), PDHX(8050), PDX1(3651), ETHE1(23474), HPS6(79803), ISCU(23479), DMP1(1758), ITGA6(3655), ZFYVE26(23503), INSR(3643), ACAD9(28976), TNFRSF13B(23495), CYP7B1(9420), DHCR24(1718), RMRP(6023), DGUOK(1716), DHCR7(1717), OSTM1(28962), RLBP1(6017), CYB5R3(1727), EPM2A(7957), ING1(3621), HGSNAT(138050), ALG1(56052), CLCF1(23529), DECR1(1666), ROBLD3(28956), EIF2AK3(9451), DES(1674), ATP6V0A2(23545), IL12B(3593), CHST3(9469), CLDN19(149461), BBS5(129880), TACSTD2(4070), SETX(23064), EDNRB(1910), TYMP(1890), ECM1(1893), KIF1B(23095), LRP2(4036), LRP5(4041), UPB1(51733), ALDH5A1(7915), LTC4S(4056), PTH1R(5745), RAB23(51715), ADAMTS2(9509), PRSS1(5644), LMNA(4000), NPHS2(7827), LOX(4015), NHLRC1(378884), PSAP(5660), SLC26A2(1836), SPG20(23111), LPL(4023), DSP(1832), BSND(7809), TREM2(54209), RELN(5649), TMPRSS15(5651), ANKH(56172), LHCGR(3973), HPS3(84343), SLC26A3(1811), LIFR(3977), DPYD(1806), DPYS(1807), LIPA(3988), ALMS1(7840), MOGS(7841), LMAN1(3998), DPAGT1(1798), PEX19(5824), PEX2(5828), EPB42(2038), KLK4(9622), PEX5(5830), LCT(3938), PYGL(5836), PYGM(5837), UQCRQ(27089), SLC35D1(23169), ENO3(2027), RSPO4(343637), SLC36A2(153201), LPIN1(23175), LAMB3(3914), PLEKHG5(57449), LAMB2(3913), LAMC2(3918), VPS13A(23230), QDPR(5860), IQCB1(9657), LAMA2(3908), LAMA3(3909), LCAT(3931), INVS(27130), LBR(3930), RAB27A(5873), MLC1(23209), ELANE(1991), MRAP(56246), DNAI1(27019), EGFR(1956), EGR2(1959), EIF2B1(1967), NPHP3(27031), FREM2(341640), ADAMTSL2(9719), NKX2-6(137814), KRAS(3845), PTS(5805), SUMF1(285362), AICDA(57379), KLHDC8B(200942), PVRL1(5818)]
AXENFELD ANOMALY(HP:0001492)	[COL4A1(1282), JAG1(182)]
AXIAL DYSTONIA(HP:0002530)	[MAPT(4137)]
AXIAL MUSCLE WEAKNESS(HP:0003327)	[RYR1(6261), SEPN1(57190)]
AXILLARY APOCRINE GLAND HYPOPLASIA(HP:0007397)	[TBX3(6926)]
AXILLARY FRECKLING(HP:0000997)	[MSH2(4436), MSH6(2956), NF1(4763), MLH1(4292), PMS2(5395)]
AXILLARY PTERYGIA(HP:0001060)	[ITGB4(3691), CHRNG(1146), EFNB1(1947), ITGA6(3655)]
AXONAL ATROPHY ON NERVE BIOPSY(HP:0003384)	[MFN2(9927), LMNA(4000), KIF1B(23095), RAB7A(7879)]
AXONAL DEGENERATION(HP:0000764)	[CTDP1(9150), SH3TC2(79628), ZFYVE26(23503), SEPT9(10801), LMNA(4000), NEFL(4747), NDRG1(10397), SETX(23064), CCT5(22948), GAN(8139), PRPS1(5631), GJC2(57165), POLG(5428), FGF14(2259), PRPS2(5634), HSPB8(26353), TREM2(54209), RAB7A(7879), GDAP1(54332), DNM2(1785), YARS(8565), MFN2(9927), HSPB1(3315), KIF1B(23095), GJB1(2705), C10orf2(56652), PANK2(80025), IGHMBP2(3508), MPZ(4359), TYROBP(7305), APTX(54840), SLC12A6(9990), SPTLC1(10558)]
AXONAL DEGENERATION/REGENERATION ON NERVE BIOPSY(HP:0003378)	[MFN2(9927), MPZ(4359), LMNA(4000), KIF1B(23095), RAB7A(7879), GDAP1(54332), SLC12A6(9990)]
AXONAL LOSS(HP:0003447)	[TREM2(54209), NDRG1(10397), TYROBP(7305)]
AXONAL NEUROPATHY(HP:0003477)	[ZFYVE26(23503), LMNA(4000), CCT5(22948), GAN(8139), PRPS1(5631), GJC2(57165), POLG(5428), C10orf2(56652), PRPS2(5634), FGF14(2259), HSPB8(26353), SLC12A6(9990), SPTLC1(10558)]
AXONAL PERIPHERAL NEUROPATHY(HP:0007169)	[NAGA(4668), SERPING1(710)]
AXONAL REGENERATION ON NERVE BIOPSY(HP:0003450)	[YARS(8565), NEFL(4747), GDAP1(54332)]
AZOOSPERMIA(HP:0000027)	[CFTR(1080), DAZ1(1617), AR(367), BLM(641), HFE(3077), SYCP3(50511)]
AZOTEMIA(HP:0002157)	[INVS(27130), IKBKAP(8518), ADAMTS13(11093), CFH(3075)]
BABINSKI SIGN(HP:0003487)	[ARSA(410), ATL1(51062), LARGE(9215), DDC(1644), SACS(26278), SETX(23064), CCT5(22948), GJC2(57165), SPG7(6687), KIAA0196(9897), PLP1(5354), NDUFAF2(91942), SLC16A2(6567), SPAST(6683), ATXN7(6314), ATXN3(4287), ABCB7(22), FAM126A(84668), ALS2(57679), ATXN1(6310), NIPA1(123606), NDUFAF3(25915), SPG11(80208), KIF5A(3798), MCOLN1(57192), ACOX1(51), C20orf7(79133), OPA3(80207), MAN2B1(4125), GAD1(2571), CTDP1(9150), ZFYVE26(23503), FBXO7(25793), LMNB1(4001), GPR56(9289), SDHA(6389), MECP2(4204), CYP7B1(9420), HSPD1(3329), PSAP(5660), AAAS(8086), SPG20(23111), PSEN1(5663), SLC2A1(6513), NDUFA1(4694), TREM2(54209), FXN(2395), BSCL2(26580), CHMP2B(25978), MFN2(9927), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), KCNA1(3736), ATP13A2(23400), NDUFV1(4723), NDUFS2(4720), KDM5C(8242), NDUFS6(4726), NDUFS4(4724), TYROBP(7305), SDHAF1(644096)]
BACK PAIN(HP:0003418)	[VCP(7415), HGD(3081), PRKCSH(5589), SEC63(11231), VANGL1(81839), SGCB(6443), SPAST(6683)]
BACTERIAL ENDOCARDITIS SUSCEPTIBLE(HP:0006689)	[PRKAR1A(5573)]
BAND KERATOPATHY(HP:0000585)	[COL18A1(80781), SLC4A4(8671)]
BARIUM ENEMA SHOWS TRANSITION ZONE BETWEEN AGANGLIONIC CONTRACTED SEGMENT AND DILATED PROXIMAL BOWEL(HP:0002606)	[RET(5979), L1CAM(3897), ZEB2(9839), PHOX2B(8929), GDNF(2668)]
BARREL-SHAPED CHEST(HP:0001552)	[TRAPPC2(6399), TRPV4(59341), LBR(3930), HRAS(3265), TRIP11(9321), DYM(54808), CHST3(9469), LRP5(4041), COL2A1(1280), FUCA1(2517), WNT7A(7476), EIF2AK3(9451)]
BASAL CELL CARCINOMA(HP:0002671)	[MSH2(4436), TMC8(147138), MSH6(2956), TMC6(11322), ERCC3(2071), PTCH1(5727), MLH1(4292), PMS2(5395), RECQL4(9401), WNT10A(80326)]
BASAL GANGLIA CALCIFICATION(HP:0002135)	[GNAS(2778), CA2(760), GJA1(2697), ERCC3(2071), TREM2(54209), TREX1(11277), ERCC8(1161), SLC46A1(113235), TYROBP(7305), ERCC6(2074)]
BASAL GANGLIA CYSTS(HP:0006799)	[PDHA1(5160), GFM1(85476), CPT2(1376)]
BASAL LAMINA 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003400)	[SH3TC2(79628), GDAP1(54332)]
BEADED RIBS(HP:0000923)	[TRIP11(9321), COL1A1(1277)]
BEAKED NOSE(HP:0000444)	[EP300(2033), TBCE(6905), WHCR(7467), VPS13B(157680), TWIST1(7291), WHSC1(7468), ATR(545), PRPS1(5631), FGFR2(2263), PRPS2(5634), WRN(7486), CREBBP(1387), COL1A1(1277), UBR1(197131)]
BEAKING OF VERTEBRAL BODIES(HP:0004568)	[ARSB(411), GUSB(2990), NPR2(4882), COMP(1311), AGA(175), SEC23A(10484), FLNB(2317), GORAB(92344), DYM(54808), COL2A1(1280), FUCA1(2517), GNPTAB(79158), GLB1(2720)]
BEAKING OF VERTEBRAL BODIES T12-L3(HP:0004562)	[GNPTAB(79158)]
BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708)	[FBP1(2203), AUH(549), ATRX(546), PPOX(5498), DDC(1644), ATR(545), CCBE1(147372), GLRB(2743), GLRA1(2741), AVPR2(554), DCTN1(1639), SLC16A2(6567), LRRK2(120892), THRB(7068), GLDC(2731), NPC1(4864), BBS9(27241), TK2(7084), ACADS(35), NTRK1(4914), SLC6A8(6535), MCPH1(79648), ACOX1(51), SLC9A6(10479), GJA1(2697), DBT(1629), ATP7B(540), WNT10A(80326), DBH(1621), MKKS(8195), DISC2(27184), SNRPN(6638), UPF3B(65109), ZEB2(9839), OCRL(4952), BCS1L(617), BBS12(166379), POLG(5428), FGF14(2259), GNS(2799), ATXN10(25814), CYP27B1(1594), CYP27A1(1593), UROC1(131669), FGD1(2245), ACY1(95), BBS1(582), SMCR(6600), BBS2(583), OPHN1(4983), BBS4(585), ATP13A2(23400), NIPBL(25836), BCKDHA(593), IGHR(8117), BBS10(79738), GM2A(2760), SNCA(6622), SNCB(6620), BCKDHB(594), KDM5C(8242), PRNP(5621), AMN(81693), DMPK(1760), TRIM32(22954), ARL6(84100), CC2D1A(54862), PRODH(5625), OTC(5009), SGSH(6448), MTHFR(4524), HMBS(3145), ADSL(158), CLN8(2055), ALS2(57679), CUBN(8029), TREX1(11277), HLCS(3141), PAH(5053), TCN2(6948), SGCE(8910), DLAT(1737), IRF6(3664), PARK7(11315), DLD(1738), MKS1(54903), PRKAR1A(5573), PRKCG(5582), ZFYVE26(23503), WFS1(7466), EHMT1(79813), ERCC8(1161), ST3GAL5(8869), CEP290(80184), MED12(9968), EIF2B2(8892), GPHN(10243), EIF2B5(8893), PPT1(5538), DHCR7(1717), DGCR(1714), EIF2B4(8890), EIF2B3(8891), HEXA(3073), EPM2A(7957), CFH(3075), PAK3(5063), ITM2B(9445), PPP2R2B(5521), HGSNAT(138050), TIMM8A(1678), TSEN54(283989), GCSH(2653), SERPING1(710), CLN5(1203), CLN3(1201), WAS(7454), GBA(2629), ALPL(249), APTX(54840), AMT(275), VCP(7415), PGK1(5230), CPS1(1373), MAOA(4128), SCN9A(6335), CPOX(1371), BBS5(129880), NAGS(162417), ANCR(282), NSD1(64324), MAPT(4137), VDR(7421), SLC6A19(340024), IKBKAP(8518), CP(1356), SLC7A7(9056), PDE11A(50940), CDKL5(6792), GNE(10020), ATXN2(6311), UQCRB(7381), MYO7A(4647), RAB39B(116442), AIP(9049), C10orf2(56652), CACNA1A(773), CREBBP(1387), RAI1(10743), ALDH5A1(7915), UNG(7374), NAGLU(4669), SUOX(6821), MANBA(4126), UCHL1(7345), SDHD(6392), APP(351), SDHC(6391), SDHB(6390), NBN(4683), INPP5E(56623), MECP2(4204), NHLRC1(378884), HTT(3064), PSAP(5660), SPG20(23111), CUL4B(8450), PSEN1(5663), NDN(4692), NDP(4693), IGF1(3479), TREM2(54209), NLGN4X(57502), IGF1R(3480), UBE3A(7337), CBS(875), HCRT(3060), SYN1(6853), TTC8(123016), ATN1(1822), SLC39A4(55630), TBP(6908), TBX1(6899), ARG1(383), DRD2(1813), PCDH19(57526), PANK2(80025), AQP2(359), BBS7(55212), TYROBP(7305), HSD17B10(3028), PRSS12(8492), ARSA(410), EP300(2033), CD40(958), CD40LG(959), SPAST(6683), TTR(7276), NPC2(10577), ATXN3(4287), UQCRQ(27089), FMO3(2328), FMR1(2332), VPS13A(23230), ASS1(445), TSHR(7253), ASL(435), TSC1(7248), TSC2(7249), ASAH1(427), JPH3(57338), SLC6A5(9152), MGAT2(4247), SPR(6697), ATP1A3(478), MBD5(55777), NHS(4810), PINK1(65018), EIF2B1(1967), CHMP2B(25978), KRT5(3852), MMACHC(25974), AICDA(57379), CST3(1471), GRN(2896), SLITRK1(114798), ATP2A2(488), PNP(4860), NOTCH3(4854)]
BELL-SHAPED CHEST(HP:0001591)	[PEX19(5824), PEX10(5192), PEX14(5195), PEX5(5830), TBX15(6913), PEX13(5194), PEX1(5189), PEX3(8504), DDR2(4921), PEX26(55670)]
BENIGN GASTROINTESTINAL TRACT TUMORS(HP:0006719)	[MSH2(4436), MLH1(4292)]
BENIGN GENITOURINARY TRACT TUMORS(HP:0006778)	[MSH2(4436), MLH1(4292)]
BETA-CELL DYSFUNCTION(HP:0006279)	[INS(3630), KCNJ11(3767), GCK(2645), PAX4(5078), ABCC8(6833)]
BETA-GALACTOSIDASE DEFICIENCY IN FIBROBLASTS AND WHITE BLOOD CELLS(HP:0008300)	[GLB1(2720)]
BICARBONATE-WASTING RENAL TUBULAR ACIDOSIS(HP:0004910)	[SLC4A4(8671)]
BICARBONATURIA(HP:0003646)	[ALDOB(229), OCRL(4952)]
BICEPS APLASIA(HP:0009783)	[LMX1B(4010)]
BICONCAVE FLATTENED VERTEBRAE(HP:0003321)	[COL1A2(1278), COL1A1(1277)]
BICONCAVE VERTEBRAL BODIES(HP:0004586)	[GORAB(92344), COL1A2(1278), COL1A1(1277)]
BICORNUATE UTERUS(HP:0000813)	[ESCO2(157570), UPK3A(7380), RET(5979), FRAS1(80144), DHCR7(1717), HNF1B(6928), LRP2(4036), STRA6(64220), FREM2(341640), MNX1(3110)]
BICUSPID AORTIC VALVE(HP:0001647)	[FBN2(2201), NOTCH1(4851), TGFBR1(7046)]
BICUSPID PULMONARY VALVE(HP:0005182)	[TGFBR1(7046)]
BIDIRECTIONAL VENTRICULAR ECTOPY(HP:0005147)	[KCNJ2(3759)]
BIFID DISTAL PHALANX OF THE THUMB(HP:0009611)	[CANT1(124583)]
BIFID NASAL TIP(HP:0000456)	[ALX3(257), BCOR(54880), EFNB1(1947)]
BIFID OR HYPOPLASTIC EPIGLOTTIS(HP:0008746)	[GLI3(2737)]
BIFID RIBS(HP:0000892)	[PTCH1(5727)]
BIFID SACRUM(HP:0009791)	[MNX1(3110)]
BIFID SCROTUM(HP:0000048)	[BMP4(652), SALL1(6299), BUB1B(701), DHCR7(1717), ZEB2(9839), HOXA13(3209), POR(5447), IRF6(3664), SRD5A2(6716), FGFR2(2263), AR(367)]
BIFID TERMINAL PHALANGES (FEET)(HP:0001853)	[ROR2(4920)]
BIFID TERMINAL PHALANGES DIGITS 2 AND 3(HP:0006196)	[TWIST1(7291), FGFR2(2263)]
BIFID UTERUS(HP:0000136)	[FOXC2(2303), SALL1(6299), HYLS1(219844)]
BIFID UVULA(HP:0000193)	[FOXC2(2303), BMP4(652), TBCE(6905), ALG3(10195), SIX3(6496), HYAL1(3373), BCOR(54880), TBX1(6899), TP63(8626), TGFBR1(7046), IRF6(3664), FGFR2(2263), COL11A1(1301), B4GALT7(11285), EYA1(2138), DGCR(1714), FAM123B(139285), RECQL4(9401), SMS(6611)]
BILATERAL CAMPTODACTYLY(HP:0005617)	[CHRNG(1146), CRLF1(9244)]
BILATERAL CLUB FEET(HP:0001776)	[EBP(10682), DHCR24(1718)]
BILATERAL COLOBOMA OF OPTIC NERVE(HP:0007997)	[PAX6(5080)]
BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)	[ACTG1(71), WFS1(7466), SQSTM1(8878), TMPRSS3(64699), EYA4(2070), BCS1L(617), GRHL2(79977), COL11A2(1302), EDNRB(1910), RDX(5962), HGF(3082), KCNQ4(9132), FGF3(2248), DSPP(1834), MYH9(4627), CDH23(64072), UQCRQ(27089), USH1C(10083), LHX3(8022), MYO15A(51168), TECTA(7007), SLC26A4(5172), PCDH15(65217), DIAPH1(1729), UQCRB(7381), OPA1(4976), MYO7A(4647), TMC1(117531), OTOF(9381), FOXI1(2299), TRIOBP(11078), SOST(50964), POU3F4(5456), GJB2(2706), MYH14(79784), DFNA5(1687), TNFRSF11A(8792)]
BILATERAL CRYPTORCHIDISM(HP:0008689)	[AMH(268), AMHR2(269)]
BILATERAL DIGITALIZED THUMBS(HP:0005707)	[FGF10(2255), FGFR3(2261)]
BILATERAL INTRACRANIAL CALCIFICATIONS(HP:0005671)	[ECM1(1893)]
BILATERAL MACULAR RETINAL PIGMENT EPITHELIAL MOTTLING(HP:0007793)	[PROM1(8842)]
BILATERAL MICROPHTHALMOS(HP:0007633)	[TCOF1(6949), FRAS1(80144), STRA6(64220), FREM2(341640)]
BILATERAL PTOSIS(HP:0001488)	[PHOX2A(401)]
BILATERAL SENSORINEURAL DEAFNESS(HP:0008530)	[TMPRSS3(64699), EYA4(2070), GRHL2(79977), EDNRB(1910), RDX(5962), COX15(1355), CDH23(64072), MYH9(4627), UQCRQ(27089), LHX3(8022), MYO15A(51168), MYO7A(4647), UQCRB(7381), DIAPH1(1729), TMC1(117531), OTOF(9381), TRIOBP(11078), DLD(1738), SURF1(6834), GJB2(2706), POU3F4(5456), MYH14(79784), C20orf54(113278), TNFRSF11A(8792), NDUFS7(374291), SQSTM1(8878), WFS1(7466), ACTG1(71), SDHA(6389), BCS1L(617), COL11A2(1302), HGF(3082), KCNQ4(9132), FGF3(2248), DSPP(1834), NDUFA2(4695), USH1C(10083), TECTA(7007), SLC26A4(5172), PCDH15(65217), C8orf38(137682), OPA1(4976), FOXI1(2299), SOST(50964), NDUFS3(4722), NDUFV1(4723), DFNA5(1687), NDUFS4(4724), NDUFS8(4728)]
BILATERAL SINGLE PALMAR CREASES(HP:0007598)	[CCBE1(147372)]
BILATERAL VESTIBULAR SCHWANNOMA(HP:0009589)	[NF2(4771)]
BILE DUCT PROLIFERATION(HP:0001408)	[MKS1(54903), TMEM67(91147), RPGRIP1L(23322), NPHP3(27031), HSD17B4(3295), POLG(5428)]
BILIARY CIRRHOSIS(HP:0002613)	[CFTR(1080), ATP8B1(5205), NPHP3(27031)]
BILIARY DUCT ATRESIA(HP:0005912)	[CECR(1055)]
BILIARY TRACT ABNORMALITY(HP:0001080)	[ARSA(410), PEX19(5824), ABCD3(5825), DMPK(1760), PEX2(5828), BBS5(129880), PEX5(5830), TRIM32(22954), ARL6(84100), ERCC4(2072), HSD17B4(3295), ANK1(286), CIITA(4261), ESCO2(157570), ABCB4(5244), TMEM67(91147), STK11(6794), AURKC(6795), ABCC2(1244), RPGRIP1L(23322), BBS9(27241), FECH(2235), GPI(2821), PEX10(5192), PKLR(5313), PEX14(5195), PKHD1(5314), PEX13(5194), PEX1(5189), B3GALTL(145173), UROS(7390), C10orf2(56652), RFX5(5993), BPGM(669), MKS1(54903), PFKM(5213), RFXAP(5994), MPV17(4358), ATP8B1(5205), JAG1(182), MKKS(8195), WHCR(7467), HK1(3098), WHSC1(7468), HBB(3043), CEP290(80184), BBS12(166379), POLG(5428), AIRE(326), DGUOK(1716), DGCR(1714), CECR(1055), NPHP3(27031), PEX26(55670), TTC8(123016), BBS1(582), G6PD(2539), BBS2(583), TBX1(6899), BBS4(585), PEX3(8504), RFXANK(8625), ALDOA(226), BBS10(79738), CFTR(1080), BBS7(55212), TPI1(7167), GBE1(2632)]
BILOBATE GALLBLADDER(HP:0005608)	[SC5DL(6309)]
BIPARTITE CALCANEUS(HP:0008127)	[FLNA(2316), FLNB(2317)]
BIPOLAR AFFECTIVE DISORDER(HP:0007302)	[DGCR(1714), ATP2A2(488), TBX1(6899)]
BIRD-LIKE FACIES(HP:0000320)	[LMNA(4000), WNT10A(80326), ZMPSTE24(10269)]
BIRTH LENGTH <3RD PERCENTILE(HP:0003561)	[TBCE(6905), B3GALTL(145173)]
BIRTH LENGTH GREATER THAN 97TH PERCENTILE(HP:0003517)	[GPC3(2719), PTEN(5728)]
BITEMPORAL NARROWING(HP:0000314)	[MAP2K1(5604), MAP2K2(5605), SNRPN(6638), DHCR7(1717), NDN(4692), ATRX(546), FAM123B(139285), INSR(3643), KRAS(3845), BRAF(673), SLC16A2(6567), SC5DL(6309)]
BLADDER CARCINOMA(HP:0002862)	[HRAS(3265), RB1(5925), FGFR3(2261), KRAS(3845), ATP7A(538)]
BLADDER DIVERTICULA(HP:0000015)	[PLOD1(5351), FBLN5(10516), EFEMP2(30008), TP63(8626), LOX(4015), ATP7A(538)]
BLADDER FISTULA(HP:0004321)	[MKKS(8195), POR(5447)]
BLADDER TUMORS(HP:0009725)	[EP300(2033), AKT1(207), PTPRJ(5795), FLCN(201163), PIK3CA(5290), FGFR3(2261), KRAS(3845), PTEN(5728), NRAS(4893), PDGFRL(5157), APC(324), BUB1B(701), HRAS(3265), RB1(5925), MLH3(27030), TP53(7157), AXIN2(8313), ATP7A(538)]
BLEEDING DIATHESIS(HP:0001892)	[GP1BA(2811), P2RY12(64805), TBXAS1(6916), GP9(2815), GP1BB(2812), GGCX(2677), SERPINF2(5345), GATA1(2623), CD36(948), HPS5(11234), ITGB3(3690), PTPN11(5781), BLOC1S3(388552), FANCD2(2177), FANCC(2176), FGB(2244), FANCE(2178), DTNBP1(84062), FGA(2243), PRKCSH(5589), F13B(2165), SERPINE1(5054), PTGS1(5742), F13A1(2162), G6PC(2538), HPS3(84343), FANCA(2175), HPS1(3257), MCFD2(90411), VWF(7450), FCGR2C(9103), F2(2147), ACP2(53), SEC63(11231), HPS4(89781), LMAN1(3998), F9(2158), F10(2159), F8(2157), HPS6(79803), F7(2155), F5(2153)]
BLEPHARITIS(HP:0000498)	[GJB6(10804), SAT1(6303), TP63(8626), DKC1(1736)]
BLEPHAROPHIMOSIS(HP:0000581)	[MYCN(4613), HSPG2(3339), TBX15(6913), ATR(545), RAPSN(5913), SALL4(57167), MYH3(4621), STRA6(64220), ERCC6(2074), PAX3(5077), ZMPSTE24(10269), SOX9(6662), DGCR(1714), PHF6(84295), KCNJ2(3759), GPC6(10082), BCOR(54880), TBX1(6899), TP63(8626), LIFR(3977), FOXL2(668), GJA1(2697), DOK7(285489), MOGS(7841), RECQL4(9401)]
BLEPHAROSPASM(HP:0000643)	[CP(1356), PANK2(80025), PARK7(11315), FTL(2512), TOR1A(1861)]
BLEPHAROSPASM MAY OCCUR(HP:0007907)	[PARK7(11315)]
BLINDNESS(HP:0000618)	[FBN1(2200), PLOD1(5351), ATIC(471), FZD4(8322), CEP290(80184), NDUFAF2(91942), FGF14(2259), EIF2B2(8892), CDH3(1001), EIF2B5(8893), PPT1(5538), GUCY2D(3000), NDP(4693), EIF2B4(8890), NDUFA1(4694), ADAMTS10(81794), EIF2B3(8891), HEXA(3073), COL2A1(1280), EIF2B1(1967), ABCD1(215), FREM2(341640), OAT(4942), PQBP1(10084), TCIRG1(10312), MYO7A(4647), GALC(2581), FRAS1(80144), GNAS(2778), LAMB2(3913), ASPA(443), NDUFAF3(25915), LRP5(4041), NDUFA11(126328), TIMM8A(1678), NDUFAF4(29078), NDUFS1(4719), GJB2(2706), NDUFV1(4723), GM2A(2760), NDUFS2(4720), CLN3(1201), NDUFS6(4726), C20orf7(79133), ALMS1(7840), NDUFS4(4724), PLG(5340), RPE65(6121)]
BLINDNESS IN INFANCY OR VERY EARLY CHILDHOOD(HP:0007839)	[NDP(4693)]
BLISTERING, GENERALIZED(HP:0007467)	[PLEC(5339)]
BLISTERS ESP ON PALMS, SOLES, PERIORAL, TRUNK AND NECK(HP:0007496)	[KRT5(3852), KRT14(3861)]
BLOCK VERTEBRAE(HP:0003305)	[DLL3(10683), FLNB(2317)]
BLOND HAIR(HP:0002214)	[PAH(5053), CDKL5(6792), UROC1(131669), LPAR6(10161), TP63(8626), ANCR(282), MECP2(4204), UBE3A(7337)]
BLONDE, SPARSE SCALP HAIR(HP:0004542)	[LMNA(4000), UBR1(197131)]
BLOODY DIARRHEA(HP:0002255)	[BLOC1S3(388552), HPS3(84343), HPS4(89781), HPS5(11234), HPS1(3257), HPS6(79803), DTNBP1(84062)]
BLOTCHING PIGMENTATION OF THE SKIN(HP:0007610)	[PANK2(80025), LIFR(3977)]
BLUE IRIDES(HP:0000635)	[PAH(5053), TYR(7299), CDKL5(6792), MITF(4286), UROC1(131669), TP63(8626), ANCR(282), MECP2(4204), UBE3A(7337)]
BLUE SCLERAE(HP:0000592)	[PLOD1(5351), ABCC6(368), CRTAP(10491), TGFBR1(7046), MVK(4598), H19(283120), COL5A2(1290), ESCO2(157570), COL5A1(1289), GJA1(2697), ALPL(249), COL1A2(1278), PPIB(5479), ZNF469(84627), COL1A1(1277), KIAA1279(26128), ADAMTS2(9509), GHR(2690)]
BLUE-YELLOW DYSCHROMATOPSIA(HP:0000552)	[OPA1(4976)]
BLURRED VISION(HP:0000622)	[ATP1A2(477), CACNA1A(773), TACSTD2(4070), COL4A1(1282), MAPT(4137), TSC1(7248)]
BLURRED VISION, EPISODIC(HP:0007723)	[COL4A1(1282)]
BONE CORPUSCLE FUNDUS PIGMENTATION(HP:0007823)	[CRB1(23418)]
BONE MARROW HYPOPLASIA(HP:0005528)	[LBR(3930), TBXAS1(6916), IVD(3712), TGFB1(7040)]
BONE PAIN(HP:0002653)	[CLCN5(1184), PHEX(5251), SQSTM1(8878), GBA(2629), CYP27B1(1594), NME1(4830), SLC34A3(142680), VDR(7421), TNFRSF11A(8792), FGF23(8074), CYP2R1(120227)]
BONY PARANASAL BOSSING(HP:0004407)	[ANKH(56172)]
BOWED FOREARM BONES(HP:0003956)	[NPR2(4882), FGFR1(2260), GDF5(8200), FGFR2(2263), MMP13(4322), FLNA(2316), SHOX(6473), FLNB(2317), HOXA11(3207), POR(5447), RECQL4(9401), WNT7A(7476), LEPRE1(64175)]
BOWED, SHORT LOWER EXTREMITIES(HP:0006428)	[ALPL(249)]
BOWEL DIVERTICULA(HP:0005222)	[COL5A2(1290), COL5A1(1289), COL1A1(1277)]
BOWEL INCONTINENCE(HP:0002607)	[ZFYVE26(23503), SLC9A6(10479)]
BOWING OF LIMBS DUE TO MULTIPLE FRACTURES(HP:0003023)	[PPIB(5479), COL1A1(1277)]
BOWING OF THE ARMS(HP:0006488)	[NPR2(4882), FGFR1(2260), GDF5(8200), FGFR2(2263), MMP13(4322), FLNA(2316), SHOX(6473), FLNB(2317), HOXA11(3207), POR(5447), RECQL4(9401), WNT7A(7476), LEPRE1(64175)]
BOWING OF THE LEGS(HP:0002979)	[FBN1(2200), NPR2(4882), FGFR1(2260), FGFR3(2261), GDF5(8200), VDR(7421), FGFR2(2263), MMP13(4322), PLOD2(5352), CYP2R1(120227), FLNA(2316), FLNB(2317), B2M(567), SOX9(6662), CYP27B1(1594), MATN3(4148), RPGRIP1L(23322), SH3PXD2B(285590), PPIB(5479), MATR3(9782), ANO5(203859), WNT7A(7476), CLCN5(1184), PHEX(5251), PCNT(5116), TNFRSF11B(4982), CRTAP(10491), EIF2AK3(9451), MKS1(54903), SLC34A3(142680), ALPL(249), COL1A2(1278), POR(5447), COL1A1(1277), MAN2B1(4125), LEPRE1(64175)]
BOWING OF THE LONG BONES(HP:0006487)	[FBN1(2200), HSPG2(3339), NPR2(4882), FGFR1(2260), FGFR3(2261), GDF5(8200), VDR(7421), FGFR2(2263), MMP13(4322), FLNA(2316), CYP2R1(120227), PLOD2(5352), FLNB(2317), B2M(567), SOX9(6662), CYP27B1(1594), HOXA11(3207), MATN3(4148), RPGRIP1L(23322), SH3PXD2B(285590), PPIB(5479), MATR3(9782), ANO5(203859), WNT7A(7476), CLCN5(1184), PHEX(5251), PCNT(5116), TNFRSF11B(4982), CRTAP(10491), SHOX(6473), EIF2AK3(9451), LIFR(3977), MKS1(54903), SLC34A3(142680), ALPL(249), COL1A2(1278), POR(5447), RECQL4(9401), COL1A1(1277), PTH1R(5745), MAN2B1(4125), LEPRE1(64175)]
BOWING OF THE VOCAL CORDS(HP:0008756)	[MATR3(9782)]
BRACHYCEPHALY(HP:0000248)	[PEX19(5824), FBN1(2200), FBN2(2201), EHMT1(79813), TWIST1(7291), PEX5(5830), FGFR1(2260), GATA1(2623), FGFR3(2261), ANCR(282), ATIC(471), FGFR2(2263), MECP2(4204), DCR(1637), ESCO2(157570), RMRP(6023), BUB1B(701), CDKL5(6792), ADAMTS10(81794), UBE3A(7337), PQBP1(10084), PEX26(55670), BMP4(652), AGA(175), PEX10(5192), PEX14(5195), SMCR(6600), PEX13(5194), PEX1(5189), PEX3(8504), EFNB1(1947), NIPBL(25836), ACOX1(51), RAB3GAP2(25782), GJA1(2697), MMP2(4313), POR(5447), RECQL4(9401), RAI1(10743), SLC12A6(9990), RAB23(51715), PTH1R(5745), ATP7A(538)]
BRACHYDACTYLY(HP:0001156)	[FBN1(2200), MYCN(4613), ATRX(546), NPR2(4882), ARSE(415), TWIST1(7291), BBS5(129880), TRIM32(22954), SLURP1(57152), GATA1(2623), SALL4(57167), ARL6(84100), LMBR1(64327), MGP(4256), H19(283120), FLNA(2316), FLNB(2317), GLI3(2737), DCR(1637), NOG(9241), ALX3(257), SOX9(6662), PAPSS2(9060), ADAMTS10(81794), SLC35D1(23169), IHH(3549), BBS9(27241), CANT1(124583), CHRNA1(1134), BMP4(652), GPC3(2719), ROR2(4920), SLC6A8(6535), DDR2(4921), LBR(3930), MKS1(54903), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRND(1144), RAI1(10743), MRPS16(51021), RAB23(51715), JAG1(182), CTSK(1513), BMPR1B(658), ADAMTS2(9509), TRPS1(7227), MKKS(8195), NHS(4810), EHMT1(79813), INSR(3643), COMP(1311), GGCX(2677), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), CEP290(80184), BBS12(166379), COL11A2(1302), ZMPSTE24(10269), PTPN11(5781), SLC26A2(1836), RMRP(6023), FGF10(2255), PHF6(84295), KCNJ2(3759), FGD1(2245), HOXA13(3209), DYM(54808), COL2A1(1280), FREM2(341640), WNT7A(7476), EVC(2121), TTC8(123016), ACVR1(90), FRAS1(80144), GNAS(2778), PCNT(5116), SMCR(6600), BBS1(582), BBS2(583), PORCN(64840), BBS4(585), EFNB1(1947), LIFR(3977), EIF2AK3(9451), RUNX2(860), BBS10(79738), OFD1(8481), KDM5C(8242), HOXD13(3239), BBS7(55212), CHST3(9469)]
BRACHYDACTYLY (2ND-5TH TOES)(HP:0001885)	[HOXA13(3209)]
BRACHYDACTYLY (FEET)(HP:0001831)	[LBR(3930), RMRP(6023), GNAS(2778), TWIST1(7291), HOXA13(3209), FGFR2(2263), IHH(3549)]
BRACHYDACTYLY E-LIKE CHANGES(HP:0006115)	[COL2A1(1280)]
BRACHYDACTYLY, COMPLEX(HP:0006128)	[GDF5(8200)]
BRACHYMESOPHALANGY OF HANDS AND FEET(HP:0006239)	[FGFR1(2260), FGFR2(2263)]
BRACHYTURRICEPHALY(HP:0000244)	[PEX19(5824), PEX10(5192), PEX14(5195), PEX5(5830), PEX13(5194), FGFR1(2260), PEX1(5189), RECQL4(9401), PEX3(8504), FGFR2(2263), PEX26(55670)]
BRACKET EPIPHYSES OF THE 2ND FINGER(HP:0009489)	[GDF5(8200), BMPR1B(658)]
BRACKET EPIPHYSES OF THE 5TH FINGER(HP:0009383)	[GDF5(8200), BMPR1B(658)]
BRACKET EPIPHYSES OF THE MIDDLE PHALANGES OF THE HAND(HP:0010258)	[GDF5(8200), BMPR1B(658)]
BRACKET EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010229)	[GDF5(8200), BMPR1B(658)]
BRACKET EPIPHYSIS OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009514)	[GDF5(8200), BMPR1B(658)]
BRACKET EPIPHYSIS OF THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0009204)	[GDF5(8200), BMPR1B(658)]
BRADYCARDIA(HP:0001662)	[SCN5A(6331), SLC25A20(788), SCN9A(6335), LMNA(4000), TSPYL1(7259), HCN4(10021), ANK2(287), PAX8(7849)]
BRADYKINESIA(HP:0002067)	[PRNP(5621), ATP1A3(478), UCHL1(7345), FBXO7(25793), TBP(6908), PARK7(11315), MAPT(4137), POLG(5428), DCTN1(1639), HTT(3064), PINK1(65018), LRRK2(120892), PANK2(80025), ATXN3(4287), PARK2(5071), PDE8B(8622), JPH3(57338), DBH(1621), ATXN2(6311)]
BRAIN MACROGYRIA AND POLYMICROGYRIA(HP:0007227)	[PEX2(5828)]
BRAIN STEM COMPRESSION(HP:0002512)	[SQSTM1(8878), FGFR3(2261), TNFRSF11A(8792)]
BRAIN TISSUE SHOWS CAVITATION OF THE BASAL GANGLIA(HP:0007007)	[FTL(2512)]
BRANCHIAL ANOMALIES(HP:0009794)	[TFAP2A(7020), EYA1(2138)]
BRANCHIAL CYST(HP:0009796)	[EYA1(2138)]
BRANCHIAL FISTULA(HP:0009795)	[EYA1(2138)]
BREAST CANCER(HP:0003002)	[AKT1(207), MSH2(4436), TWIST1(7291), PIK3CA(5290), MLH1(4292), TIMP2(7077), FGFR2(2263), PTEN(5728), KRAS(3845), CDKN2A(1029), CTNNB1(1499), BRIP1(83990), SLC22A18(5002), STK11(6794), RB1CC1(9821), RAD54L(8438), TP53(7157), PPM1D(8493)]
BREAST HYPOPLASIA(HP:0003187)	[SRY(6736), IKBKG(8517), TP63(8626), TBX3(6926)]
BREATHING DIFFICULTY DUE TO VOCAL CORD PARALYSIS(HP:0006847)	[DCTN1(1639)]
BREATHING DYSREGULATION(HP:0005957)	[TMEM67(91147), TMEM216(51259), AHI1(54806), INPP5E(56623), CEP290(80184)]
BREECH PRESENTATION(HP:0001623)	[SLC26A2(1836), MKS1(54903), DHCR7(1717), CRTAP(10491), COL1A2(1278), COL1A1(1277)]
BRIDGED SELLA TURCICA(HP:0005449)	[PTCH1(5727)]
BRISK DEEP TENDON REFLEXES(HP:0007259)	[OFD1(8481)]
BRISK LOWER EXTREMITY REFLEXES(HP:0007245)	[PDE8B(8622)]
BROAD 1ST METATARSAL(HP:0010068)	[CANT1(124583)]
BROAD ALVEOLAR RIDGES(HP:0000187)	[CD96(10225), DHCR7(1717), GPC3(2719), ARX(170302), GJA1(2697)]
BROAD AND DEPRESSED NASAL BRIDGE(HP:0004666)	[FRAS1(80144), TRIM37(4591), FREM2(341640)]
BROAD CLAVICLES(HP:0000916)	[SOST(50964), WNT7A(7476), ATP7A(538)]
BROAD CRUMPLED LONG BONES(HP:0006367)	[COL1A1(1277)]
BROAD DISTAL HALLUX(HP:0008111)	[FGFR2(2263)]
BROAD DISTAL PHALANGES OF THE HAND(HP:0009836)	[HOXD13(3239), FGFR2(2263), FLNA(2316)]
BROAD FACE(HP:0000283)	[AGA(175), SMCR(6600), RAI1(10743)]
BROAD FEET(HP:0001769)	[FBN1(2200), MKKS(8195), GPC3(2719), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), FGFR1(2260), ARL6(84100), BBS4(585), CEP290(80184), BBS12(166379), BBS10(79738), MKS1(54903), BBS7(55212), ADAMTS10(81794), DYM(54808), FGD1(2245), BBS9(27241), TTC8(123016)]
BROAD FEMORAL METAPHYSES(HP:0006417)	[FGFR3(2261)]
BROAD FEMORAL NECK(HP:0006429)	[COMP(1311), MATN3(4148), ACVR1(90)]
BROAD FINGERS(HP:0001500)	[FBN1(2200), EP300(2033), NHS(4810), SALL1(6299), GPC3(2719), NPR2(4882), FGFR1(2260), NSD1(64324), FGFR3(2261), FGFR2(2263), ROR2(4920), DDR2(4921), COL11A1(1301), FLNA(2316), GLI3(2737), FLNB(2317), MED12(9968), NOG(9241), HOXD13(3239), ADAMTS10(81794), CREBBP(1387), COL2A1(1280)]
BROAD FOREHEAD(HP:0000337)	[ZFPM2(23414), FGF10(2255), GDF1(2657), KCNJ2(3759), CCBE1(147372), FGFR3(2261), FGFR2(2263), TFAP2B(7021), JAG1(182), NKX2-5(1482), MAN2B1(4125), GLI3(2737)]
BROAD HALLUX(HP:0010055)	[EP300(2033), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), EFNB1(1947), SUMF1(285362), FLNA(2316), GLI3(2737), MED12(9968), NOG(9241), FGF10(2255), CREBBP(1387), BMPR1B(658)]
BROAD HANDS(HP:0001169)	[FBN1(2200), GPC3(2719), CD96(10225), RPS6KA3(6197), GATA1(2623), FGFR1(2260), DCR(1637), LBR(3930), OFD1(8481), ADAMTS10(81794), FGD1(2245), DYM(54808), COL2A1(1280)]
BROAD METACARPALS(HP:0001230)	[FBN1(2200), NPR2(4882), ADAMTS10(81794), FGFR1(2260), DDR2(4921)]
BROAD METATARSALS(HP:0001783)	[FBN1(2200), ADAMTS10(81794)]
BROAD NAILS(HP:0001821)	[IHH(3549)]
BROAD NASAL BRIDGE(HP:0000431)	[MYCN(4613), EP300(2033), ATRX(546), PEX5(5830), CCBE1(147372), MYH3(4621), STRA6(64220), B4GALT7(11285), FLNA(2316), GLI3(2737), ESCO2(157570), MID1(4281), ALX3(257), MITF(4286), GNE(10020), SC5DL(6309), GPC3(2719), PEX10(5192), PEX13(5194), SEC23A(10484), PEX1(5189), ROR2(4920), CTSD(1509), ACOX1(51), FOXL2(668), CREBBP(1387), GNPAT(8443), RAI1(10743), KIAA1279(26128), HSPG2(3339), WHCR(7467), PDHA1(5160), CD96(10225), WHSC1(7468), ZEB2(9839), PAX3(5077), PTPN11(5781), DHCR7(1717), TRIM37(4591), SOS1(6654), AHI1(54806), GPC6(10082), FGD1(2245), IGF1R(3480), FREM2(341640), PQBP1(10084), PEX26(55670), PITX2(5308), FRAS1(80144), ALG3(10195), SMCR(6600), TP63(8626), TNNI2(7136), TNNT3(7140), OFD1(8481), FAM123B(139285), TPM2(7169)]
BROAD NASAL ROOT(HP:0000424)	[SOST(50964), MYH3(4621), TNNI2(7136), TNNT3(7140), EFNB1(1947), FLNA(2316), GLI3(2737), FLNB(2317), SNAP29(9342), ALX3(257), AP3B1(8546), TPM2(7169), SLC12A6(9990), ACY1(95)]
BROAD NASAL TIP(HP:0000455)	[RAB3GAP2(25782), ALX3(257), BCOR(54880), AGL(178), PORCN(64840), TFAP2B(7021), TFAP2A(7020), FLNB(2317)]
BROAD NECK(HP:0000475)	[IGBP1(3476), B3GALTL(145173), HYLS1(219844), WNT7A(7476)]
BROAD NOSE(HP:0000445)	[AVP(551), FRAS1(80144), OFD1(8481), STAT3(6774), MOGS(7841), CRLF1(9244), RPS6KA3(6197), FUCA1(2517), FREM2(341640)]
BROAD NOTCHED NASAL TIP(HP:0005282)	[ALX3(257)]
BROAD PHALANGES OF THE HALLUX(HP:0010059)	[CANT1(124583), GLI3(2737)]
BROAD PHALANGES OF THE HAND(HP:0009768)	[FBN1(2200), EP300(2033), SALL1(6299), GPC3(2719), NPR2(4882), FGFR1(2260), NSD1(64324), FGFR3(2261), FGFR2(2263), ROR2(4920), DDR2(4921), COL11A1(1301), FLNA(2316), GLI3(2737), FLNB(2317), MED12(9968), NOG(9241), HOXD13(3239), ADAMTS10(81794), CREBBP(1387), COL2A1(1280)]
BROAD PHALANGES OF THE THUMB(HP:0009651)	[EP300(2033), SALL1(6299), GPC3(2719), FGFR1(2260), NSD1(64324), FGFR2(2263), ROR2(4920), FLNA(2316), GLI3(2737), FLNB(2317), MED12(9968), NOG(9241), CREBBP(1387), COL2A1(1280)]
BROAD PHALANGES OF THE TOES(HP:0010174)	[CANT1(124583), GLI3(2737)]
BROAD PROXIMAL PHALANGES OF THE TOES(HP:0010204)	[CANT1(124583)]
BROAD RIBS(HP:0000885)	[FBN1(2200), ARSB(411), FAM123B(139285), ADAMTS10(81794), SOST(50964), WNT7A(7476), MAN2B1(4125), GLB1(2720)]
BROAD SECONDARY ALVEOLAR RIDGE(HP:0000216)	[GPC3(2719)]
BROAD SKULL(HP:0002682)	[FBN1(2200), ADAMTS10(81794)]
BROAD TOES(HP:0001837)	[EP300(2033), GPC3(2719), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), ROR2(4920), EFNB1(1947), SUMF1(285362), FLNA(2316), GLI3(2737), MED12(9968), NOG(9241), FGF10(2255), CREBBP(1387), BMPR1B(658)]
BROAD UPTURNED NASAL TIP(HP:0004501)	[AGL(178)]
BROAD, BUSHY EYEBROWS(HP:0004546)	[NIPBL(25836)]
BROAD, FLAT NASAL ROOT(HP:0005284)	[SNAP29(9342), SOST(50964)]
BROAD, SQUARE NASAL TIP(HP:0005269)	[FLNB(2317)]
BROAD, THIMBLE-LIKE MIDDLE PHALANGES(HP:0006193)	[FGFR3(2261)]
BROAD-BASED GAIT(HP:0002136)	[CDKL5(6792), VLDLR(7436), TBP(6908), GPR56(9289), ATCAY(85300), ANCR(282), MECP2(4204), UBE3A(7337), SMS(6611), HSD17B10(3028)]
BRONCHIECTASIS(HP:0002110)	[CD8A(925), CFTR(1080), DNAI1(27019), ATM(472), TNFRSF13B(23495), NBN(4683), ICOS(29851), BLM(641), SCNN1B(6338), DNMT3B(1789)]
BRONCHITIS(HP:0002837)	[TAP1(6890), TAP2(6891), TAPBP(6892), ATM(472), NBN(4683), MGP(4256), IL2RG(3561), GNPTAB(79158)]
BRONCHOMALACIA(HP:0002780)	[POR(5447), FLNB(2317)]
BRUSHFIELD SPOTS(HP:0001088)	[PEX19(5824), ABCD3(5825), PEX2(5828), PEX10(5192), PEX14(5195), PEX5(5830), PEX13(5194), PEX1(5189), GATA1(2623), PEX3(8504), PEX26(55670), DCR(1637)]
BRUXISM(HP:0003763)	[MECP2(4204)]
BUDD-CHIARI SYNDROME(HP:0002639)	[JAK2(3717)]
BULBAR PALSY(HP:0001283)	[ARSA(410), CHRNA1(1134), CHAT(1103), RAPSN(5913), DES(1674), CHRNE(1145), GSN(2934), CHRND(1144), C20orf54(113278), ACTA1(58), AR(367), ATXN1(6310), NEB(4703)]
BULBAR SIGNS(HP:0002483)	[NDUFV1(4723), GBA(2629), GFAP(2670)]
BULBOUS INTERNAL AUDITORY CANAL(HP:0004458)	[EYA1(2138)]
BULBOUS NASAL TIP(HP:0000443)	[MAP2K1(5604), SMARCAL1(50485), MAP2K2(5605), KCNJ2(3759), TBX1(6899), KRAS(3845), KIAA1279(26128), COL11A2(1302), BRAF(673)]
BULBOUS NOSE(HP:0000414)	[SMARCAL1(50485), ALG3(10195), TBX1(6899), KRAS(3845), COL11A2(1302), BRAF(673), MAP2K1(5604), MAP2K2(5605), MMP2(4313), KCNJ2(3759), KIAA1279(26128), CPT2(1376), PQBP1(10084)]
BULGING FOREHEAD(HP:0001358)	[DYNC2H1(79659)]
BULLET-SHAPED PHALANGES OF THE HAND(HP:0009769)	[GNPTAB(79158)]
BUPHTHALMOS(HP:0000557)	[CYP1B1(1545), TWIST1(7291), FOXC1(2296), MYH9(4627), FGFR2(2263)]
BURKHOLDERIA CEPACIA INFECTIONS(HP:0002842)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
BUTTERFLY RETINAL PIGMENT EPITHELIAL DYSTROPHY(HP:0007783)	[PRPH2(5961)]
BUTTERFLY VERTEBRAE(HP:0003316)	[SOX2(6657), SC5DL(6309)]
BUTTERFLY VERTEBRAL ARCH(HP:0004617)	[JAG1(182)]
C1-C2 SUBLUXATION(HP:0003320)	[MMP2(4313), COL2A1(1280), DDR2(4921)]
C1-C2 VERTEBRAL ABNORMALITY(HP:0008440)	[FBN1(2200), MMP2(4313), COL2A1(1280), DDR2(4921)]
C2-C3 SUBLUXATION(HP:0008456)	[FLNB(2317)]
C8 DEFICIENCY(HP:0004434)	[C8A(731), C8B(732)]
CACHECTIC DWARFISM(HP:0001424)	[ERCC8(1161), ERCC6(2074)]
CACHEXIA(HP:0004326)	[MECP2(4204)]
CAFE-AU-LAIT SPOTS(HP:0000957)	[EP300(2033), RET(5979), ATM(472), SDHD(6392), SDHB(6390), NBN(4683), H19(283120), PTPN11(5781), NF1(4763), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), GNAS(2778), MSH2(4436), MSH6(2956), PCNT(5116), KIF1B(23095), MLH1(4292), FANCA(2175), PMS2(5395), PTEN(5728), BLM(641), TSC1(7248), TSC2(7249), NF2(4771), VHL(7428), CREBBP(1387)]
CAFE-AU-LAIT SPOTS MAY OR MAY NOT BE PRESENT(HP:0007454)	[NF1(4763)]
CALCANEOVALGUS DEFORMITIES(HP:0001848)	[HOXD10(3236), TNNI2(7136), MYH3(4621), TPM2(7169), COL1A2(1278), NSD1(64324), TNNT3(7140)]
CALCIFIC STIPPLING(HP:0002832)	[PEX19(5824), ABCD3(5825), PEX2(5828), ARSE(415), PEX10(5192), GGCX(2677), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), AGPS(8540), PEX7(5191), MGP(4256), PEX3(8504), HSD17B4(3295), SUMF1(285362), DDR2(4921), EBP(10682), LBR(3930), THRB(7068), GNPAT(8443), NSDHL(50814), NEU1(4758), PEX26(55670)]
CALCIFIC STIPPLING OF INFANTILE CARTILAGINOUS SKELETON(HP:0005841)	[PEX7(5191)]
CALCIFICATION OF FALX CEREBRI(HP:0005462)	[ABCC6(368), PTCH1(5727), DDR2(4921)]
CALCIFICATIONS OF THE AORTA(HP:0004963)	[GBA(2629)]
CALCIFICATIONS OF THE CARDIAC VALVES(HP:0005146)	[FBN1(2200), HGD(3081), GBA(2629)]
CALCINOSIS(HP:0003761)	[KL(9365), GALNT3(2591), FGF23(8074)]
CALCIUM NEPHROLITHIASIS(HP:0004724)	[GRHPR(9380), SLC34A3(142680), AGXT(189)]
CALCIUM OXALATE UROLITHIASIS(HP:0008700)	[GRHPR(9380), AGXT(189)]
CALF HYPERTROPHY(HP:0003703)	[FKRP(79147), TTN(7273), CAV3(859), TCAP(8557), AR(367), SGCA(6442), ANO5(203859)]
CALF MUSCLE HYPERTROPHY(HP:0009024)	[SGCA(6442)]
CALF MUSCLE PSEUDOHYPERTROPHY(HP:0003707)	[MYH7(4625), TRIM32(22954), DMD(1756), SGCG(6445)]
CALVARIAL OSTEOSCLEROSIS(HP:0005450)	[TBCE(6905)]
CAMPTODACTYLY (FEET)(HP:0001836)	[MMP2(4313), CHRNG(1146), FGFR3(2261), CHST3(9469), GLI3(2737)]
CAMPTODACTYLY (HANDS)(HP:0010563)	[FBN1(2200), FBN2(2201), ABCD3(5825), PEX2(5828), LARGE(9215), TBX15(6913), MYH3(4621), TGFBR1(7046), CCBE1(147372), NSD1(64324), ERCC6(2074), GLI3(2737), ITGB4(3691), ALX3(257), CRLF1(9244), LAMB3(3914), NOD2(64127), LAMC2(3918), UROS(7390), ROR2(4920), LAMA3(3909), GJA1(2697), CHRNG(1146), POR(5447), RAB23(51715), HSPG2(3339), CD96(10225), COL17A1(1308), RAPSN(5913), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), MED12(9968), CDH3(1001), L1CAM(3897), DYM(54808), PQBP1(10084), ADAMTSL2(9719), TNNI2(7136), TP63(8626), WISP3(8838), TNNT3(7140), LIFR(3977), MMP2(4313), FAM123B(139285), IGHMBP2(3508), HOXD13(3239), DOK7(285489), TPM2(7169), CHST3(9469)]
CAMPTODACTYLY WITH ULNAR DEVIATION(HP:0005047)	[LIFR(3977)]
CAPILLARY HEMANGIOMAS(HP:0005306)	[EP300(2033), SLC37A4(2542), SEC23A(10484), GLI3(2737), VHL(7428), ESCO2(157570), CCND1(595), OFD1(8481), SLC17A3(10786), CREBBP(1387), FLT4(2324), RECQL4(9401), MGAT2(4247), KDR(3791)]
CAPITATE-HAMATE FUSION(HP:0001241)	[FGFR3(2261), EVC2(132884), EVC(2121), ATP7A(538)]
CARDIAC ABNORMALITY(HP:0001627)	[FBN1(2200), RET(5979), FKRP(79147), FBN2(2201), HIBCH(26275), FBP1(2203), PPOX(5498), CCBE1(147372), TGFBR1(7046), TGFB3(7043), H19(283120), DPM1(8813), DNAJC19(131118), DCR(1637), GLI3(2737), FAH(2184), KCNQ1OT1(10984), SLC22A5(6584), THRB(7068), HRAS(3265), FANCD2(2177), DOLK(22845), NPPA(4878), FANCC(2176), FANCE(2178), UBR1(197131), GNPTAB(79158), BBS9(27241), GLB1(2720), CHRNA1(1134), GLA(2717), ACADS(35), ACADL(33), GPC3(2719), MRPS22(56945), ACADVL(37), B3GALTL(145173), ROR2(4920), FKTN(2218), RAB3GAP2(25782), GJA5(2702), C20orf7(79133), GJA1(2697), CHRNG(1146), CHRND(1144), KCNQ1(3784), MKKS(8195), ZEB2(9839), FGFR1(2260), BCS1L(617), FGFR2(2263), KCTD7(154881), CDKN1C(1028), POLG(5428), BBS12(166379), SOS1(6654), GNS(2799), CECR(1055), SBDS(51119), KCNJ2(3759), KCNH2(3757), ACVRL1(94), KCNE1(3753), DTNBP1(84062), FOXC2(2303), CNBP(7555), TNXB(7148), JUP(3728), BBS1(582), SMCR(6600), BBS2(583), FOXF1(2294), TNNI3(7137), BBS4(585), NDUFA11(126328), GNAI2(2771), NDUFAF4(29078), HPS1(3257), TNNT2(7139), NIPBL(25836), BBS10(79738), ZFPM2(23414), CFTR(1080), FAM123B(139285), HOXD13(3239), FASTKD2(22868), TPI1(7167), GNPTG(84572), MLYCD(23417), SDHAF1(644096), ERBB3(2065), DMPK(1760), TRIM32(22954), EFEMP2(30008), ARL6(84100), GATA1(2623), SGCB(6443), PRPS1(5631), STRA6(64220), ERCC6(2074), SGCG(6445), BRAF(673), MAP2K1(5604), SGSH(6448), MAP2K2(5605), BLOC1S3(388552), HMBS(3145), ZIC3(7547), TCOF1(6949), AGA(175), BCOR(54880), GALNS(2588), CFC1(55997), MKS1(54903), PRKAR1A(5573), AHCY(191), AGXT(189), AGL(178), CSRP3(8048), COL1A2(1278), RECQL4(9401), ZNF469(84627), MRPS16(51021), COL1A1(1277), DMD(1756), JAG1(182), HPS6(79803), ISCU(23479), BMPR2(659), MYBPC3(4607), WHCR(7467), WFS1(7466), EHMT1(79813), WHSC1(7468), ACAD9(28976), ERCC8(1161), CEP290(80184), ZMPSTE24(10269), MUT(4594), DHCR24(1718), MED12(9968), HGD(3081), GDF1(2657), TRIM37(4591), DHCR7(1717), DGCR(1714), SH3PXD2B(285590), HEXB(3074), EVC(2121), HFE(3077), FRAS1(80144), ALG1(56052), HGSNAT(138050), FANCA(2175), TF(7018), TFAP2B(7021), VHL(7428), DES(1674), PCCB(5096), VWF(7450), GBA(2629), GBE1(2632), CHST3(9469), PCCA(5095), SCN5A(6331), MYCN(4613), CPT1A(1374), MYOT(9499), GUSB(2990), SCN9A(6335), CPOX(1371), BBS5(129880), SALL4(57167), NSD1(64324), HPS5(11234), ANK2(287), ESCO2(157570), ALX3(257), MYH7(4625), HCN4(10021), SMAD9(4093), UQCRB(7381), SALL1(6299), SLC25A20(788), SLC2A10(81031), PEX10(5192), KIF1B(23095), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), AIP(9049), PEX7(5191), LRP5(4041), PTEN(5728), MYLK2(85366), C10orf2(56652), SCO2(9997), CACNA1C(775), SLC25A4(291), KCNE2(9992), SLC17A5(26503), CREBBP(1387), RAI1(10743), TCAP(8557), RAB23(51715), NAGLU(4669), CPT2(1376), HCCS(3052), LMNA(4000), SDHD(6392), SDHC(6391), SDHB(6390), EVC2(132884), LOX(4015), SDHA(6389), MECP2(4204), TSFM(10102), PDGFRA(5156), PRPS2(5634), COL5A2(1290), COL5A1(1289), MEFV(4210), DSP(1832), NDUFA1(4694), GPC6(10082), APOA1(335), DSG2(1829), COL2A1(1280), FUCA1(2517), CBS(875), COL3A1(1281), DSC2(1824), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), VPS13B(157680), ABCC6(368), TBX5(6910), COX6B1(1340), HPS3(84343), CAV3(859), TBX1(6899), PEX3(8504), NDUFS1(4719), TAZ(6901), NDUFV1(4723), NDUFS2(4720), HADHB(3032), HADH(3033), NDUFS6(4726), BBS7(55212), NDUFS4(4724), ALMS1(7840), GAA(2548), HADHA(3030), CHD7(55636), PAX8(7849), LDB3(11155), PEX19(5824), ABCD3(5825), PLOD1(5351), ARSB(411), EP300(2033), PEX2(5828), SLC19A2(10560), TWIST1(7291), PEX5(5830), RPS6KA3(6197), MGP(4256), NDUFAF2(91942), FLNA(2316), FLNB(2317), IDS(3423), MID1(4281), TTR(7276), SOX9(6662), SOX2(6657), TTN(7273), NF1(4763), ENG(2022), UQCRQ(27089), NSDHL(50814), PMM2(5373), NEU1(4758), FMO3(2328), NKX2-5(1482), FMR1(2332), LAMB1(3912), PKP2(5318), ELN(2006), NDUFAF3(25915), TSPYL1(7259), EMD(2010), TSHR(7253), D2HGDH(728294), SP110(3431), TSC1(7248), TSC2(7249), LBR(3930), CRELD1(78987), LAMP2(3920), MGAT2(4247), RYR2(6262), CD96(10225), DNAI1(27019), ATIC(471), PRKAG2(51422), PTPN11(5781), CRYAB(1410), FBLN5(10516), NPHP3(27031), PRG4(10216), FREM2(341640), PKD2(5311), FXN(2395), PKD1(5310), ADAMTSL2(9719), NKX2-6(137814), TP63(8626), KRAS(3845), HYLS1(219844), NODAL(4838), SEMA3E(9723), SSTR5(6755), PHYH(5264), HPS4(89781), NOTCH1(4851), TPM1(7168), RPS19(6223)]
CARDIAC ARREST(HP:0001695)	[SCN5A(6331), PKP2(5318), ACADL(33), LMNA(4000), ACADVL(37), GNAI2(2771), ANK2(287), TGFB3(7043), DNAJC19(131118), DSP(1832), KCNE2(9992), CSRP3(8048), KCNQ1(3784), DSG2(1829), KCNH2(3757), DSC2(1824), KCNE1(3753)]
CARDIAC FIBROMA(HP:0010617)	[PTCH1(5727)]
CARDIAC MALFORMATION(HP:0002564)	[FBN1(2200), FBN2(2201), FKRP(79147), HIBCH(26275), CCBE1(147372), TGFBR1(7046), TGFB3(7043), H19(283120), DPM1(8813), DNAJC19(131118), GLI3(2737), DCR(1637), KCNQ1OT1(10984), SLC22A5(6584), FAH(2184), HRAS(3265), FANCD2(2177), DOLK(22845), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), GLB1(2720), CHRNA1(1134), GLA(2717), ACADS(35), ACADL(33), GPC3(2719), ACADVL(37), MRPS22(56945), B3GALTL(145173), ROR2(4920), FKTN(2218), RAB3GAP2(25782), C20orf7(79133), GJA1(2697), CHRNG(1146), CHRND(1144), MKKS(8195), ZEB2(9839), FGFR1(2260), BCS1L(617), FGFR2(2263), BBS12(166379), CDKN1C(1028), POLG(5428), SOS1(6654), GNS(2799), CECR(1055), SBDS(51119), ACVRL1(94), DTNBP1(84062), FOXC2(2303), TNXB(7148), JUP(3728), BBS1(582), SMCR(6600), BBS2(583), FOXF1(2294), TNNI3(7137), BBS4(585), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), TNNT2(7139), NIPBL(25836), BBS10(79738), ZFPM2(23414), CFTR(1080), FAM123B(139285), HOXD13(3239), FASTKD2(22868), GNPTG(84572), SDHAF1(644096), MLYCD(23417), ERBB3(2065), TRIM32(22954), EFEMP2(30008), ARL6(84100), GATA1(2623), PRPS1(5631), STRA6(64220), SGCG(6445), BRAF(673), MAP2K1(5604), SGSH(6448), MAP2K2(5605), BLOC1S3(388552), ZIC3(7547), TCOF1(6949), AGA(175), BCOR(54880), GALNS(2588), CFC1(55997), MKS1(54903), PRKAR1A(5573), AHCY(191), AGL(178), COL1A2(1278), CSRP3(8048), RECQL4(9401), ZNF469(84627), MRPS16(51021), COL1A1(1277), DMD(1756), JAG1(182), HPS6(79803), BMPR2(659), MYBPC3(4607), WHCR(7467), WFS1(7466), EHMT1(79813), WHSC1(7468), ACAD9(28976), CEP290(80184), ZMPSTE24(10269), MUT(4594), MED12(9968), DHCR24(1718), HGD(3081), TRIM37(4591), GDF1(2657), DHCR7(1717), DGCR(1714), SH3PXD2B(285590), EVC(2121), HFE(3077), HGSNAT(138050), ALG1(56052), FANCA(2175), TFAP2B(7021), DES(1674), PCCB(5096), VWF(7450), GBA(2629), GBE1(2632), CHST3(9469), PCCA(5095), SCN5A(6331), MYCN(4613), MYOT(9499), GUSB(2990), BBS5(129880), SALL4(57167), NSD1(64324), HPS5(11234), ESCO2(157570), ALX3(257), MYH7(4625), SMAD9(4093), UQCRB(7381), SALL1(6299), SLC25A20(788), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), AIP(9049), LRP5(4041), PTEN(5728), MYLK2(85366), C10orf2(56652), SCO2(9997), SLC25A4(291), CREBBP(1387), RAI1(10743), RAB23(51715), NAGLU(4669), TCAP(8557), CPT2(1376), HCCS(3052), LMNA(4000), EVC2(132884), LOX(4015), SDHA(6389), TSFM(10102), PDGFRA(5156), PRPS2(5634), COL5A2(1290), COL5A1(1289), MEFV(4210), DSP(1832), NDUFA1(4694), GPC6(10082), DSG2(1829), COL2A1(1280), CBS(875), COL3A1(1281), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), VPS13B(157680), ABCC6(368), TBX5(6910), COX6B1(1340), HPS3(84343), CAV3(859), TBX1(6899), PEX3(8504), NDUFS1(4719), TAZ(6901), NDUFV1(4723), NDUFS2(4720), HADHB(3032), HADH(3033), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), HADHA(3030), CHD7(55636), LDB3(11155), PEX19(5824), ABCD3(5825), ARSB(411), EP300(2033), PEX2(5828), SLC19A2(10560), TWIST1(7291), PEX5(5830), RPS6KA3(6197), MGP(4256), NDUFAF2(91942), FLNA(2316), FLNB(2317), IDS(3423), MID1(4281), TTR(7276), SOX9(6662), SOX2(6657), NF1(4763), TTN(7273), ENG(2022), UQCRQ(27089), NSDHL(50814), PMM2(5373), NEU1(4758), NKX2-5(1482), FMR1(2332), LAMB1(3912), PKP2(5318), ELN(2006), NDUFAF3(25915), EMD(2010), D2HGDH(728294), LBR(3930), CRELD1(78987), LAMP2(3920), MGAT2(4247), RYR2(6262), CD96(10225), DNAI1(27019), ATIC(471), PRKAG2(51422), PTPN11(5781), CRYAB(1410), FBLN5(10516), NPHP3(27031), PRG4(10216), PKD2(5311), FXN(2395), PKD1(5310), ADAMTSL2(9719), NKX2-6(137814), TP63(8626), KRAS(3845), HYLS1(219844), NODAL(4838), SEMA3E(9723), SSTR5(6755), HPS4(89781), NOTCH1(4851), TPM1(7168)]
CARDIAC RHABDOMYOMA(HP:0009729)	[PTCH1(5727), TSC1(7248), TSC2(7249)]
CARDIOMEGALY(HP:0001640)	[CPT1A(1374), JUP(3728), NSD1(64324), CDKN1C(1028), H19(283120), PRKAG2(51422), LBR(3930), KCNQ1OT1(10984), SLC22A5(6584), GBA(2629), SLC17A5(26503), GAA(2548), HEXB(3074), FUCA1(2517), LAMP2(3920), NAGLU(4669), NEU1(4758), CPT2(1376), GNPTAB(79158), HFE(3077)]
CARDIOMYOPATHY(HP:0001638)	[SCN5A(6331), FKRP(79147), MYOT(9499), NSD1(64324), HPS5(11234), TGFB3(7043), H19(283120), DNAJC19(131118), SLC22A5(6584), KCNQ1OT1(10984), FAH(2184), HRAS(3265), MYH7(4625), DOLK(22845), GNPTAB(79158), GLB1(2720), UQCRB(7381), ACADS(35), SLC25A20(788), ACADL(33), GPC3(2719), ACADVL(37), MRPS22(56945), AIP(9049), MYLK2(85366), C10orf2(56652), FKTN(2218), SCO2(9997), RAB3GAP2(25782), SLC25A4(291), C20orf7(79133), TCAP(8557), CPT2(1376), LMNA(4000), HCCS(3052), SDHA(6389), BCS1L(617), CDKN1C(1028), POLG(5428), TSFM(10102), PRPS2(5634), PDGFRA(5156), DSP(1832), NDUFA1(4694), DSG2(1829), DTNBP1(84062), BSCL2(26580), JUP(3728), COX6B1(1340), ABCC6(368), HPS3(84343), CAV3(859), TNNI3(7137), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), TNNT2(7139), NDUFS1(4719), TAZ(6901), NDUFV1(4723), NDUFS2(4720), HADHB(3032), HADH(3033), NDUFS6(4726), ALMS1(7840), FASTKD2(22868), NDUFS4(4724), HADHA(3030), SDHAF1(644096), MLYCD(23417), LDB3(11155), ERBB3(2065), PRPS1(5631), NDUFAF2(91942), BRAF(673), MAP2K1(5604), MAP2K2(5605), TTR(7276), BLOC1S3(388552), TTN(7273), UQCRQ(27089), PMM2(5373), NEU1(4758), PKP2(5318), NDUFAF3(25915), D2HGDH(728294), AHCY(191), CSRP3(8048), AGL(178), LAMP2(3920), DMD(1756), HPS6(79803), MYBPC3(4607), WFS1(7466), ACAD9(28976), PRKAG2(51422), MUT(4594), PTPN11(5781), CRYAB(1410), FXN(2395), HFE(3077), ALG1(56052), KRAS(3845), DES(1674), PCCB(5096), SSTR5(6755), HPS4(89781), GBE1(2632), TPM1(7168), PCCA(5095)]
CARDIORESPIRATORY ARREST(HP:0006543)	[SLC25A20(788)]
CARIOUS TEETH(HP:0000670)	[TNFSF11(8600), SNRPN(6638), TINF2(26277), COL17A1(1308), ERCC8(1161), FGFR3(2261), NHP2(55651), VDR(7421), ERCC6(2074), TGFB1(7040), FERMT1(55612), ITGB4(3691), APC(324), FGF10(2255), NDN(4692), TCIRG1(10312), GLB1(2720), NOP10(55505), LAMB3(3914), TBCE(6905), LAMC2(3918), TERC(7012), TERT(7015), TP63(8626), SEC23A(10484), GALNS(2588), DKC1(1736), LAMA3(3909), OFD1(8481), AP3B1(8546), ATP6V0A2(23545), GJA1(2697), ALPL(249), CNNM4(26504), KRT14(3861), CTSK(1513), PLEC(5339)]
CARPAL BONE HYPOPLASIA(HP:0001498)	[TRPV4(59341), COMP(1311), DYM(54808), SALL4(57167), GNPTAB(79158), EIF2AK3(9451)]
CARPAL OSTEOLYSIS(HP:0001495)	[MMP2(4313)]
CARTILAGINOUS OSSIFICATION OF LARYNX(HP:0008747)	[MGP(4256)]
CARTILAGINOUS OSSIFICATION OF NOSE(HP:0005275)	[MGP(4256)]
CARTILAGINOUS OSSIFICATION OF PINNAE(HP:0005103)	[MGP(4256)]
CARTILAGINOUS OSSIFICATION OF RIB(HP:0006662)	[SLC26A2(1836), MGP(4256)]
CARTILAGINOUS TRACHEA(HP:0005347)	[FGFR1(2260), FGFR2(2263)]
CATAPLEXY(HP:0002524)	[NPC2(10577), NPC1(4864), HCRT(3060)]
CATAPLEXY OFTEN TRIGGERED BY STRONG EMOTIONS(HP:0002428)	[HCRT(3060)]
CATAPLEXY, PAROXYSMAL WEAKNESS OR PARALYSIS(HP:0002525)	[HCRT(3060)]
CATARACT(HP:0000518)	[FBN1(2200), FKRP(79147), RET(5979), BBS5(129880), SALL4(57167), TGFBI(7045), IKBKG(8517), ESCO2(157570), ALX3(257), GCM2(9247), GUCY2D(3000), MYH9(4627), ADAMTS10(81794), PTCH1(5727), BBS9(27241), SC5DL(6309), UQCRB(7381), MYO7A(4647), RHO(6010), PEX10(5192), KIF1B(23095), PTH(5741), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), SEC23A(10484), PEX7(5191), LRP5(4041), PTEN(5728), B3GALTL(145173), C10orf2(56652), NR2E3(10002), FKTN(2218), GTF2H5(404672), GJA8(2703), RAB3GAP2(25782), HSF4(3299), GJA1(2697), CREBBP(1387), SIL1(64374), ACTB(60), MKKS(8195), HCCS(3052), CNGB3(54714), SDHD(6392), SDHB(6390), INPP5E(56623), OCRL(4952), BCS1L(617), BBS12(166379), POLG(5428), COL11A1(1301), KCNJ13(3769), LMX1B(4010), COL18A1(80781), COL4A6(1288), COL7A1(1294), NDP(4693), CYP27A1(1593), COL4A1(1282), COL2A1(1280), COL4A5(1287), OAT(4942), PQBP1(10084), TTC8(123016), PEX26(55670), FTL(2512), ABHD5(51099), CNBP(7555), GNAS(2778), FOXE3(2301), POMGNT1(55624), BBS1(582), BBS2(583), BBS4(585), PEX3(8504), SIX6(4990), EBP(10682), BBS10(79738), BBS7(55212), ALMS1(7840), CASR(846), PEX19(5824), ABCD3(5825), EP300(2033), DMPK(1760), PEX2(5828), ARSE(415), RP2(6102), LARGE(9215), ERCC2(2068), TRIM32(22954), PEX5(5830), ERCC3(2071), ARL6(84100), ERCC6(2074), FLNB(2317), BUB1B(701), GALT(2592), FAM126A(84668), UQCRQ(27089), POMT1(10585), PAH(5053), BCOR(54880), DKC1(1736), GALK1(2584), ETFDH(2110), NF2(4771), ETFB(2109), BFSP2(8419), ETFA(2108), MKS1(54903), GNPAT(8443), RPE65(6121), RECQL4(9401), OPA3(80207), RAB3GAP1(22930), POMT2(29954), CTDP1(9150), HSPG2(3339), GJB6(10804), NHS(4810), PAX6(5080), ERCC8(1161), FZD4(8322), CEP290(80184), CRYBA1(1411), CRYAB(1410), DHCR7(1717), WRN(7486), WNT3(7473), PITX3(5309), CRYGD(1421), PHGDH(26227), ITM2B(9445), BEST1(7439), VCAN(1462), TFAP2A(7020), VHL(7428)]
CATARACT, PROGRESSIVE(HP:0007828)	[BFSP2(8419)]
CATARACTS DEVELOP IN SECOND OR THIRD DECADE(HP:0007825)	[INPP5E(56623)]
CATARACTS, POSTERIOR, SUBCAPSULAR, IRIDESCENT(HP:0007889)	[CNBP(7555)]
CAUDAL APPENDAGE(HP:0002825)	[TRPV4(59341)]
CAUDATE ATROPHY(HP:0002340)	[VPS13A(23230), TREM2(54209), TYROBP(7305)]
CAVERNOUS HEMANGIOMA(HP:0001048)	[MAP2K1(5604), MAP2K2(5605), KRAS(3845), GNPTAB(79158), BRAF(673)]
CAVUM SEPTUM PELLUCIDUM(HP:0002389)	[WHCR(7467), WHSC1(7468), DOK7(285489), RAPSN(5913), NSD1(64324)]
CD43 (SIALOPHORIN) DEFECTIVELY EXPRESSED ON SURFACE OF BLOOD CELLS(HP:0001983)	[WAS(7454)]
CELIAC DISEASE(HP:0002608)	[ENG(2022)]
CELL LOSS AND GLIOSIS IN THE BASAL GANGLIA(HP:0006999)	[PRNP(5621)]
CELLULAR IMMUNODEFICIENCY(HP:0005374)	[RMRP(6023)]
CELLULITIS DUE TO IMMUNODEFICIENCY(HP:0003553)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
CENTRAL APNEA(HP:0002871)	[PSAP(5660), TMEM216(51259), AHI1(54806), INPP5E(56623), CEP290(80184)]
CENTRAL DIABETES INSIPIDUS(HP:0000863)	[AVP(551), TP63(8626)]
CENTRAL HYPOVENTILATION(HP:0007110)	[MECP2(4204)]
CENTRAL INCISOR GAP(HP:0001570)	[ALX3(257)]
CENTRAL NERVOUS SYSTEM DEGENERATION(HP:0007009)	[TREX1(11277)]
CENTRAL NERVOUS SYSTEM MALFORMATIONS(HP:0007319)	[FBN1(2200), FKRP(79147), GUSB(2990), TGIF1(7050), TGFBR1(7046), GJC2(57165), GLI3(2737), EDNRB(1910), ESCO2(157570), ABAT(18), ALX3(257), PTCH1(5727), RPGRIP1L(23322), SC5DL(6309), GPC3(2719), TMEM216(51259), B3GALTL(145173), PTEN(5728), ACOX1(51), FKTN(2218), C20orf7(79133), SLC17A5(26503), VANGL1(81839), LMNB1(4001), HCCS(3052), RAPSN(5913), FGFR1(2260), FGFR3(2261), INPP5E(56623), FGFR2(2263), PSAP(5660), COL18A1(80781), NDUFA1(4694), ALX4(60529), POMGNT1(55624), PORCN(64840), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), NDUFV1(4723), NDUFS2(4720), FLVCR2(55640), OFD1(8481), HOXD13(3239), NDUFS6(4726), FAM123B(139285), DOK7(285489), NDUFS4(4724), ARSB(411), LARGE(9215), TBX15(6913), ZIC4(84107), ERCC6(2074), NDUFAF2(91942), FLNA(2316), BRAF(673), FLNB(2317), MTM1(4534), IDS(3423), MAP2K1(5604), MAP2K2(5605), SOX10(6663), SOX9(6662), BUB1B(701), ZIC1(7545), NF1(4763), FAM126A(84668), POMT1(10585), TCIRG1(10312), GALC(2581), NDUFAF3(25915), MKS1(54903), MSX2(4488), RECQL4(9401), POMT2(29954), WHCR(7467), SIX3(6496), WHSC1(7468), DNAI1(27019), ERCC8(1161), HSPD1(3329), MED12(9968), DHCR7(1717), L1CAM(3897), OSTM1(28962), WNT3(7473), FREM2(341640), GFAP(2670), WNT7A(7476), FRAS1(80144), SHH(6469), HYLS1(219844), KRAS(3845), SUMF1(285362), MMACHC(25974), GBA(2629), MNX1(3110)]
CENTRAL POLYDACTYLY (FEET)(HP:0010112)	[GLI3(2737)]
CENTRAL POLYDACTYLY (HANDS)(HP:0006159)	[MKKS(8195), HOXD13(3239), GLI3(2737)]
CENTRAL RETINITIS PIGMENTOSA(HP:0008506)	[CNGB3(54714), ABCA4(24)]
CENTRAL SCOTOMA(HP:0000603)	[PITPNM3(83394), OPA1(4976), PRPH2(5961), MFN2(9927), ABCC6(368), PROM1(8842), ELOVL4(6785)]
CENTRAL VISUAL LOSS(HP:0001091)	[GUCY2D(3000), RPE65(6121)]
CENTRAL VISUAL LOSS EARLY(HP:0007969)	[GUCY2D(3000)]
CENTRALIZED NUCLEI(HP:0003687)	[MYH7(4625), TRIM32(22954)]
CENTROCECAL SCOTOMA(HP:0000576)	[OPA1(4976)]
CEREBELLAR ATAXIA(HP:0001253)	[ATP1A2(477), AUH(549), LMNB1(4001), ATM(472), ATXN8(724066), ITPR1(3708), SETX(23064), SLC6A19(340024), DNAJC19(131118), FGF14(2259), ATXN7(6314), PDSS2(57107), ATXN8OS(6315), KCNC3(3748), ATXN10(25814), ATXN3(4287), NPC2(10577), TTPA(7274), CYP27A1(1593), ABCB7(22), BEAN(146227), NPC1(4864), COQ2(27235), PDSS1(23590), HEXB(3074), ATXN1(6310), ATXN2(6311), ATN1(1822), PPP2R2B(5521), COQ9(57017), SLC39A4(55630), ATCAY(85300), SPTBN2(6712), CACNA1A(773), TTBK2(146057), PRKCG(5582), SIL1(64374), RPIA(22934), APTX(54840), CABC1(56997)]
CEREBELLAR ATAXIA DURING EPISODES(HP:0007214)	[ATP1A2(477)]
CEREBELLAR ATAXIA, NONPROGRESSIVE(HP:0002470)	[ABCB7(22), DNAJC19(131118)]
CEREBELLAR ATAXIA, SEVERE(HP:0007050)	[APTX(54840)]
CEREBELLAR ATAXIA, SLOWLY PROGRESSIVE(HP:0002496)	[BEAN(146227)]
CEREBELLAR ATROPHY(HP:0001272)	[PRNP(5621), PLA2G6(8398), FKRP(79147), BTD(686), ERCC3(2071), ATXN8(724066), ITPR1(3708), MYH3(4621), SETX(23064), BCS1L(617), MVK(4598), SPG7(6687), POLG(5428), DNAJC19(131118), FGF14(2259), PDSS2(57107), ATXN8OS(6315), KCNC3(3748), ATXN10(25814), ATXN3(4287), ABCB7(22), BEAN(146227), COQ2(27235), CLN8(2055), UQCRQ(27089), PDSS1(23590), ACY1(95), UQCRB(7381), PPP2R2B(5521), COQ9(57017), ALG3(10195), MFSD8(256471), VLDLR(7436), TBP(6908), MCOLN1(57192), L2HGDH(79944), SPTBN2(6712), C10orf2(56652), CTSD(1509), SLC9A6(10479), CACNA1A(773), TTBK2(146057), PRKCG(5582), SIL1(64374), APTX(54840), MAN2B1(4125), CABC1(56997)]
CEREBELLAR ATROPHY IN MOST CASES(HP:0007072)	[L2HGDH(79944)]
CEREBELLAR ATROPHY, MILD(HP:0007203)	[ATXN3(4287)]
CEREBELLAR ATROPHY, PROGRESSIVE(HP:0002364)	[CLN8(2055), SETX(23064)]
CEREBELLAR CALCIFICATIONS(HP:0007352)	[ERCC6(2074)]
CEREBELLAR CYSTS(HP:0002350)	[FKRP(79147), CD96(10225), LARGE(9215), OPHN1(4983), EVC2(132884), HYLS1(219844), EBP(10682), FKTN(2218), MKS1(54903), DHCR7(1717), BUB1B(701), PLG(5340), NPHP3(27031), POMT1(10585), EVC(2121), POMT2(29954)]
CEREBELLAR HEMANGIOBLASTOMA(HP:0006880)	[CCND1(595), VHL(7428)]
CEREBELLAR HYPOPLASIA(HP:0001321)	[FKRP(79147), POMGNT1(55624), TINF2(26277), RAPSN(5913), GPR56(9289), OPHN1(4983), DKC1(1736), TSEN54(283989), HSD17B4(3295), ERCC6(2074), MKS1(54903), BUB1B(701), DOK7(285489), VRK1(7443), PLG(5340)]
CEREBELLAR HYPOPLASIA/ATROPHY(HP:0006857)	[HSD17B4(3295)]
CEREBELLAR MALFORMATION(HP:0002438)	[FBN1(2200), FKRP(79147), CD96(10225), LARGE(9215), ZIC4(84107), ATR(545), SACS(26278), FGFR1(2260), TGFBR1(7046), EVC2(132884), INPP5E(56623), MVK(4598), FGFR2(2263), CEP290(80184), PAX2(5076), BUB1B(701), DHCR7(1717), TMEM67(91147), L1CAM(3897), NPHP1(4867), ZIC1(7545), AHI1(54806), NPHP3(27031), POMT1(10585), EVC(2121), SC5DL(6309), GPC3(2719), TMEM216(51259), OPHN1(4983), DKC1(1736), PORCN(64840), HYLS1(219844), PSAT1(29968), TFAP2A(7020), EBP(10682), TUBA1A(7846), MKS1(54903), FKTN(2218), CACNA1A(773), MPL(4352), POR(5447), PLG(5340), RPE65(6121), POMT2(29954)]
CEREBELLAR VERMIS APLASIA/HYPOPLASIA(HP:0006817)	[CEP290(80184)]
CEREBELLAR VERMIS ATROPHY(HP:0006855)	[SACS(26278)]
CEREBELLAR VERMIS HYPOPLASIA(HP:0001320)	[TUBA1A(7846), MPL(4352), GPC3(2719), TMEM67(91147), NPHP1(4867), L1CAM(3897), AHI1(54806), ATR(545), RPE65(6121), INPP5E(56623), CEP290(80184), PSAT1(29968)]
CEREBRAL AND OLIVOPONTOCEREBELLAR ATROPHY(HP:0005683)	[ERCC6(2074)]
CEREBRAL ANEURYSM(HP:0004944)	[GAA(2548), TGFBR1(7046), COL3A1(1281), PKD2(5311), PKD1(5310)]
CEREBRAL ARTERIOVENOUS MALFORMATION(HP:0002408)	[ENG(2022), SMAD4(4089), ACVRL1(94)]
CEREBRAL ATROPHY(HP:0002059)	[SLC25A15(10166), PRNP(5621), VCP(7415), PLA2G6(8398), BTD(686), SLC25A22(79751), AUH(549), ATRX(546), MMADHC(27249), ANCR(282), GJC2(57165), HSD17B4(3295), SPG7(6687), ERCC6(2074), BRAF(673), CTNS(1497), MAP2K1(5604), SLC35C1(55343), MAP2K2(5605), CDKL5(6792), HRAS(3265), HNF1B(6928), MAPK10(5602), ALS2(57679), TREX1(11277), CLN8(2055), GLB1(2720), SC5DL(6309), GALC(2581), TK2(7084), BMP4(652), ASPA(443), AGA(175), MFSD8(256471), SPG11(80208), PEX7(5191), B3GALTL(145173), L2HGDH(79944), C10orf2(56652), GFM1(85476), MPV17(4358), SLC17A5(26503), SIL1(64374), NAGA(4668), RAB3GAP1(22930), CTDP1(9150), WFS1(7466), PDHA1(5160), FH(2271), ERCC8(1161), ST3GAL5(8869), MVK(4598), MECP2(4204), PSAP(5660), GPHN(10243), PPT1(5538), DGUOK(1716), PSEN1(5663), TREM2(54209), ACY1(95), FUCA1(2517), UBE3A(7337), MOCS2(4338), PQBP1(10084), MOCS1(4337), CHMP2B(25978), PPP2R2B(5521), ALG3(10195), ALG1(56052), TBP(6908), KRAS(3845), MMACHC(25974), PCCB(5096), TPP1(1200), GRN(2896), CLN3(1201), PANK2(80025), GBA(2629), TYROBP(7305), MTR(4548), PCCA(5095)]
CEREBRAL ATROPHY, FRONTOTEMPORAL, PROGRESSIVE(HP:0006892)	[MAPK10(5602)]
CEREBRAL ATROPHY, MILD, DIFFUSE(HP:0006954)	[GLB1(2720)]
CEREBRAL ATROPHY, PROGRESSIVE(HP:0002422)	[PPT1(5538), AUH(549), MAPK10(5602), CLN8(2055), TREX1(11277)]
CEREBRAL CALCIFICATION(HP:0002514)	[PAH(5053), GNAS(2778), TINF2(26277), ABCC6(368), PTH(5741), KRIT1(889), MGP(4256), PRPS1(5631), ERCC6(2074), TSC1(7248), TSC2(7249), DDR2(4921), PRPS2(5634), GCM2(9247), TREX1(11277), PTCH1(5727), CASR(846), CPT2(1376), ECM1(1893)]
CEREBRAL CORTICAL ATROPHY(HP:0002120)	[SLC25A15(10166), VCP(7415), BMP4(652), CHMP2B(25978), PPP2R2B(5521), MMADHC(27249), SPG11(80208), ANCR(282), PEX7(5191), KRAS(3845), MECP2(4204), SPG7(6687), MMACHC(25974), BRAF(673), MAP2K1(5604), SLC35C1(55343), MAP2K2(5605), PSEN1(5663), GRN(2896), CDKL5(6792), HNF1B(6928), ALS2(57679), SIL1(64374), UBE3A(7337)]
CEREBRAL CORTICAL NEURODEGENERATION(HP:0006964)	[POLG(5428)]
CEREBRAL DEGENERATION(HP:0007313)	[GLB1(2720)]
CEREBRAL EDEMA(HP:0002181)	[ACADM(34), CPS1(1373), ATP1A2(477), NDUFAF3(25915), ASS1(445), ACAD9(28976), NDUFA11(126328), ASL(435), DLD(1738), NDUFAF4(29078), NDUFS1(4719), NDUFAF2(91942), OTC(5009), BCKDHA(593), NDUFV1(4723), NDUFS2(4720), BCKDHB(594), DBT(1629), C20orf7(79133), NDUFS6(4726), NDUFS4(4724), NDUFA1(4694)]
CEREBRAL HAMARTOMATA(HP:0009731)	[OFD1(8481), SOX2(6657), TSC1(7248), TSC2(7249), GLI3(2737)]
CEREBRAL HEMORRHAGE(HP:0001342)	[RET(5979), KIF1B(23095), ABCC6(368), SDHD(6392), APP(351), SDHB(6390), VHL(7428), JAK2(3717), DOCK8(81704), ENG(2022), SMAD4(4089), ACVRL1(94), PKD2(5311), CPT2(1376)]
CEREBRAL HYPOPLASIA(HP:0006872)	[MAP2K1(5604), MAP2K2(5605), MKS1(54903), DHCR7(1717), KRAS(3845), HSD17B4(3295), BRAF(673)]
CEREBRAL ISCHEMIA(HP:0002637)	[JAK2(3717), SMARCAL1(50485), APP(351)]
CEREBRAL VASCULITIS(HP:0005318)	[DOCK8(81704), PNP(4860)]
CEREBRAL VENOUS THROMBOSIS(HP:0005305)	[SERPINC1(462), PROC(5624), PROS1(5627)]
CEREBROVASCULAR ACCIDENT(HP:0002452)	[LGI1(9211), CACNA1A(773), ATP1A2(477), CBS(875), SCN2A(6326), FLNA(2316), CHRNA4(1137), VHL(7428)]
CERVICAL CORD COMPRESSION(HP:0002341)	[IDS(3423), RMRP(6023), COMP(1311)]
CERVICAL CORD COMPRESSION MYELOPATHY(HP:0007145)	[COMP(1311)]
CERVICAL KYPHOSIS(HP:0002947)	[SLC26A2(1836), FLNB(2317)]
CERVICAL MYELOPATHY(HP:0002318)	[EXT2(2132), ARSB(411), EXT1(2131), GALNS(2588), COL2A1(1280), GLB1(2720)]
CERVICAL PLATYSPONDYLY(HP:0004558)	[FUCA1(2517)]
CERVICAL RIBS(HP:0000891)	[GPC3(2719), RUNX2(860)]
CERVICAL SPINE HYPERMOBILITY(HP:0003318)	[FGD1(2245)]
CERVICAL SPINE SEGMENTATION DEFECTS(HP:0004612)	[FLNB(2317)]
CERVICAL SUBLUXATION(HP:0003308)	[RMRP(6023), GALNS(2588), GLB1(2720)]
CERVICAL VERTEBRAE FUSION, USUALLY AT C5 TO C6(HP:0004635)	[FGFR2(2263)]
CESSATION OF HEAD GROWTH IN AFFECTED INFANTS(HP:0004485)	[EIF2B2(8892), EIF2B5(8893), EIF2B4(8890), EIF2B3(8891), EIF2B1(1967)]
CHEWING DIFFICULTIES(HP:0005216)	[ALS2(57679)]
CHILBLAIN LESIONS(HP:0009710)	[TREX1(11277)]
CHILDREN WILL DEVELOP AFEBRILE SEIZURE DISORDERS LATER IN LIFE(HP:0002431)	[SCN9A(6335), SCN1A(6323), GPR98(84059)]
CHOANAL ATRESIA(HP:0000453)	[TCOF1(6949), SHH(6469), FOXE1(2304), TP63(8626), FGFR1(2260), SALL4(57167), NBN(4683), FGFR2(2263), NIPBL(25836), SEMA3E(9723), ZMPSTE24(10269), MED12(9968), HOXD13(3239), FAM20C(56975), POR(5447), WNT3(7473), PTH1R(5745), CHD7(55636)]
CHOANAL ATRESIA OR STENOSIS(HP:0000416)	[TCOF1(6949), FRAS1(80144), SHH(6469), FOXE1(2304), TP63(8626), FGFR1(2260), SALL4(57167), NBN(4683), FGFR2(2263), SEMA3E(9723), NIPBL(25836), ZMPSTE24(10269), MED12(9968), HOXD13(3239), FAM20C(56975), POR(5447), WNT3(7473), RECQL4(9401), PTH1R(5745), FREM2(341640), CHD7(55636)]
CHOANAL STENOSIS(HP:0000452)	[FRAS1(80144), POR(5447), SALL4(57167), RECQL4(9401), FGFR2(2263), FREM2(341640), PTH1R(5745)]
CHOLECYSTITIS(HP:0001082)	[ARSA(410), BPGM(669), ABCB4(5244), GPI(2821), HK1(3098), PKLR(5313), TPI1(7167), G6PD(2539), ALDOA(226)]
CHOLELITHIASIS(HP:0001081)	[FECH(2235), HK1(3098), DMPK(1760), PKLR(5313), G6PD(2539), TBX1(6899), HBB(3043), ANK1(286), ALDOA(226), AIRE(326), PFKM(5213), BPGM(669), ABCB4(5244), DGCR(1714), TPI1(7167)]
CHOLESTASIS(HP:0001396)	[PEX19(5824), ABCD3(5825), SLC25A13(10165), PEX2(5828), CPOX(1371), LYZ(4069), VPS33B(26276), PEX5(5830), CLDN1(9076), HSD17B4(3295), ANK1(286), NPC2(10577), TREX1(11277), NPC1(4864), ABCC2(1244), UQCRQ(27089), ABCB11(8647), SC5DL(6309), UQCRB(7381), SPTB(6710), SPTA1(6708), GALE(2582), GPI(2821), LYST(1130), PKLR(5313), PEX10(5192), PEX14(5195), PEX13(5194), AKR1D1(6718), PEX1(5189), RHAG(6005), GALK1(2584), ETFDH(2110), ETFB(2109), C10orf2(56652), ETFA(2108), PFKM(5213), BPGM(669), GFM1(85476), MPV17(4358), ATP8B1(5205), JAG1(182), HK1(3098), INSR(3643), HBB(3043), BCS1L(617), AMACR(23600), DGUOK(1716), LPL(4023), DHCR7(1717), APOA1(335), NPHP3(27031), SLC4A1(6521), FGA(2243), PEX26(55670), G6PD(2539), ALDOB(229), PEX3(8504), ALDOA(226), HBA1(3039), TPI1(7167), CDAN1(146059), UGT1A1(54658), SMPD1(6609)]
CHOLESTATIC LIVER DISEASE(HP:0002611)	[DHCR7(1717), VPS33B(26276)]
CHOLESTEATOMA(HP:0009797)	[EYA1(2138)]
CHONDROCALCINOSIS(HP:0000934)	[ANKH(56172), SLC12A3(6559), SLC12A1(6557), ALPL(249), ATP7B(540), KCNJ1(3758)]
CHORDEE(HP:0000041)	[HCCS(3052), FGFR1(2260), HOXA13(3209), POR(5447)]
CHOREA(HP:0002072)	[CTDP1(9150), PRNP(5621), ARSA(410), ATN1(1822), TAF1(6872), PDHA1(5160), NKX2-1(7080), TBP(6908), SETX(23064), DLAT(1737), ST3GAL5(8869), HTT(3064), ATXN7(6314), CP(1356), JPH3(57338), OPA3(80207), PNKD(25953), ATXN1(6310), DYT3(1863)]
CHOREOATHETOID MOVEMENTS(HP:0002469)	[ST3GAL5(8869), DLAT(1737), PNKD(25953)]
CHOREOATHETOSIS(HP:0001266)	[ATP1A2(477), PDHA1(5160), ERCC2(2068), ATM(472), DDC(1644), GJC2(57165), ERCC6(2074), HSPD1(3329), MECP2(4204), PLP1(5354), SLC2A1(6513), FTL(2512), ATN1(1822), HPRT1(3251), NKX2-1(7080), VPS13A(23230), NUP62(23636), DCAF17(80067), PANK2(80025), GJA1(2697), ARX(170302), APTX(54840), SUOX(6821), PNKD(25953), XPA(7507), SPR(6697), HSD17B10(3028), GCDH(2639)]
CHOREOATHETOSIS OF THE FACE, TRUNK, EXTREMITIES(HP:0006811)	[NUP62(23636)]
CHOREOATHETOSIS, EPISODIC(HP:0002351)	[PNKD(25953)]
CHOREOATHETOSIS, MORE FREQUENT AT DISEASE ONSET(HP:0007028)	[APTX(54840)]
CHORIORETINAL ABNORMALITY(HP:0000532)	[SLC25A15(10166), EP300(2033), SALL1(6299), CRX(1406), VPS13B(157680), TMEM216(51259), BEST1(7439), VCAN(1462), PORCN(64840), INPP5E(56623), CREBBP(1387), TEAD1(7003), JAG1(182), OAT(4942), CRB1(23418)]
CHORIORETINAL ATROPHY(HP:0000533)	[SLC25A15(10166), CRX(1406), VCAN(1462), TEAD1(7003), JAG1(182), CRB1(23418)]
CHORIORETINAL COLOBOMA(HP:0000567)	[SALL1(6299), TMEM216(51259), PORCN(64840), INPP5E(56623)]
CHORIORETINAL DYSTROPHY(HP:0001135)	[EP300(2033), VPS13B(157680), CREBBP(1387)]
CHORIORETINAL HYPOPIGMENTATION AND HYPERPIGMENTATION(HP:0007661)	[BEST1(7439)]
CHORIORETINAL THINNING(HP:0007931)	[SLC25A15(10166)]
CHOROID COLOBOMA(HP:0000611)	[GJA1(2697), CECR(1055)]
CHOROID PLEXUS CALCIFICATION(HP:0006960)	[GNAS(2778)]
CHOROID PLEXUS CYST(HP:0002190)	[FH(2271)]
CHOROID PLEXUS PAPILLOMA(HP:0200022)	[TP53(7157)]
CHOROIDAL DEGENERATION(HP:0007945)	[RPGR(6103), RP2(6102), CHM(1121)]
CHOROIDAL SCLEROSIS(HP:0001150)	[MED12(9968), RS1(6247), CYP4V2(285440), CHM(1121)]
CHOROIDAL VESSEL SCLEROSIS(HP:0007884)	[CYP4V2(285440)]
CHOROIDEREMIA(HP:0001139)	[CHML(1122), CHM(1121)]
CHROMOSOMAL BREAKAGE INDUCED BY DIEPOXYBUTANE (DEB), AND MITOMYCIN C(HP:0003221)	[FANCD2(2177), FANCA(2175), FANCC(2176)]
CHRONIC ATROPHIC GASTRITIS(HP:0002582)	[AIRE(326), ERBB2(2064), APC(324), IRF1(3659), PIK3CA(5290), CASP10(843), FGFR2(2263), KRAS(3845), KLF6(1316), CDH1(999), MUTYH(4595)]
CHRONIC BRONCHITIS(HP:0004469)	[DNMT3B(1789)]
CHRONIC CALCIFYING PANCREATITIS(HP:0005236)	[REG1A(5967)]
CHRONIC CONSTIPATION(HP:0002241)	[SIX3(6496), VANGL1(81839), MNX1(3110), MLYCD(23417)]
CHRONIC CSF LYMPHOCYTOSIS(HP:0009704)	[TREX1(11277)]
CHRONIC DIARRHEA(HP:0002028)	[CD247(919), HEXB(3074), ETHE1(23474), IL2RG(3561), ATP7A(538)]
CHRONIC HEMOLYTIC ANEMIA(HP:0004870)	[ABCG8(64241), ABCG5(64240)]
CHRONIC IMMUNE THROMBOCYTOPENIA(HP:0004806)	[GALC(2581), NDRG1(10397)]
CHRONIC LEUKEMIA(HP:0005558)	[BCL2(596), BCR(613), ABL1(25), BCL3(602), RUNX1(861)]
CHRONIC LUNG DISEASE(HP:0006528)	[BLM(641)]
CHRONIC LYMPHATIC LEUKEMIA(HP:0005550)	[BCL2(596), BCL3(602), RUNX1(861)]
CHRONIC LYMPHOCYTIC MENINGITIS(HP:0007041)	[RFX5(5993), RFXAP(5994), RFXANK(8625), CIITA(4261)]
CHRONIC METABOLIC ACIDOSIS(HP:0001996)	[GSS(2937)]
CHRONIC MUCOCUTANEOUS CANDIDIASIS(HP:0002728)	[AIRE(326), RFX5(5993), RFXAP(5994), CARD9(64170), RFXANK(8625), CIITA(4261)]
CHRONIC MYELOGENOUS LEUKEMIA(HP:0005506)	[BCR(613), ABL1(25)]
CHRONIC NONINFECTIOUS LYMPHADENOPATHY(HP:0002730)	[FAS(355), CASP10(843)]
CHRONIC OBSTRUCTIVE PULMONARY DISEASE(HP:0006510)	[SERPINA1(5265)]
CHRONIC ORAL CANDIDIASIS(HP:0009098)	[CARD9(64170)]
CHRONIC OTITIS MEDIA(HP:0000389)	[TAP1(6890), TAP2(6891), TAPBP(6892), DNAI1(27019), BTK(695), FGFR2(2263)]
CHRONIC PANCREATITIS(HP:0006280)	[SLC37A4(2542), REG1A(5967), SPINK1(6690), SLC17A3(10786)]
CHRONIC RENAL FAILURE(HP:0000101)	[SLC7A7(9056), HNF1B(6928), NPHS2(7827), WT1(7490), MUT(4594)]
CHRONIC RHINITIS(HP:0002257)	[TNFSF11(8600), DNAI1(27019)]
CHRONIC RHINITIS DUE TO NARROW NASAL AIRWAY(HP:0004499)	[TNFSF11(8600)]
CHRONIC TUBULOINTERSTITIAL NEPHRITIS(HP:0004743)	[INVS(27130)]
CHRONIC/ENDSTAGE RENAL FAILURE(HP:0004725)	[WT1(7490)]
CHUBBY CHEEKS(HP:0004427)	[CRLF1(9244)]
CIGARETTE-PAPER SCARS(HP:0001073)	[COL5A2(1290), COL5A1(1289), COL1A1(1277), COL3A1(1281)]
CIRRHOSIS(HP:0001394)	[TINF2(26277), PIK3CA(5290), APOE(348), POLG(5428), CTNNB1(1499), PDGFRL(5157), MPI(4351), FAH(2184), DGUOK(1716), GALT(2592), ENG(2022), ABCB11(8647), NPHP3(27031), ACVRL1(94), HFE(3077), BSCL2(26580), MET(4233), PPARG(5468), TERC(7012), TERT(7015), UROD(7389), DKC1(1736), ALDOB(229), C10orf2(56652), SERPINA1(5265), PPP1R3A(5506), MPV17(4358), AGPAT2(10555), GBE1(2632), ATP7B(540), ATP8B1(5205), CASP8(841), TP53(7157), AXIN1(8312)]
CLAVICLE PSEUDOARTHROSIS(HP:0006612)	[EFNB1(1947)]
CLAW HAND DEFORMITIES (IN SEVERE CASES)(HP:0001178)	[SBF2(81846), EGR2(1959), MPZ(4359), HSPB1(3315), NEFL(4747), GDAP1(54332), PMP22(5376), PRX(57716)]
CLEFT IN SKULL BASE(HP:0009752)	[HYLS1(219844)]
CLEFT LIP(HP:0000204)	[FKRP(79147), WHCR(7467), CD96(10225), TGIF1(7050), WHSC1(7468), LARGE(9215), SIX3(6496), NBN(4683), LMX1B(4010), GLI3(2737), FLNB(2317), MED12(9968), ESCO2(157570), MID1(4281), ALX3(257), PTCH1(5727), RPGRIP1L(23322), FGD1(2245), WNT3(7473), FREM2(341640), POMT1(10585), FOXC2(2303), FRAS1(80144), BMP4(652), SHH(6469), TP63(8626), PORCN(64840), IRF6(3664), HYLS1(219844), B3GALTL(145173), SEMA3E(9723), EFNB1(1947), NIPBL(25836), MKS1(54903), FKTN(2218), MSX2(4488), OFD1(8481), FAM123B(139285), GJA1(2697), PROKR2(128674), PVRL1(5818), CHD7(55636), ACTB(60), POMT2(29954)]
CLEFT LIP/PALATE(HP:0000202)	[FKRP(79147), TBX4(9496), TGIF1(7050), ATR(545), TGFBR1(7046), GLI3(2737), SATB2(23314), ESCO2(157570), ALX3(257), PTCH1(5727), RPGRIP1L(23322), CHRNA1(1134), GPC3(2719), PEX7(5191), B3GALTL(145173), FKTN(2218), GJA1(2697), CHRNG(1146), CHRND(1144), PROKR2(128674), ACTB(60), ZEB2(9839), RAPSN(5913), NBN(4683), FGFR2(2263), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), CECR(1055), FGD1(2245), KCNJ2(3759), COL2A1(1280), GDF6(392255), PQBP1(10084), NEB(4703), FOXC2(2303), UBB(7314), TBX1(6899), PORCN(64840), NIPBL(25836), RUNX2(860), OFD1(8481), FAM123B(139285), DOK7(285489), RB1(5925), SMS(6611), CHD7(55636), ABCD3(5825), FOXE1(2304), PEX2(5828), LARGE(9215), TWIST1(7291), TBX15(6913), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), MID1(4281), SOX9(6662), BUB1B(701), SLC35D1(23169), POMT1(10585), HOXA2(3199), TCOF1(6949), BMP4(652), BCOR(54880), IRF6(3664), MKS1(54903), LBR(3930), MSX2(4488), RECQL4(9401), POMT2(29954), WHCR(7467), CD96(10225), SEPT9(10801), SIX3(6496), WHSC1(7468), ZMPSTE24(10269), PAX3(5077), EYA1(2138), PTPN11(5781), MED12(9968), DHCR24(1718), DHCR7(1717), DGCR(1714), FAM20C(56975), WNT3(7473), FREM2(341640), FRAS1(80144), SHH(6469), HYAL1(3373), TP63(8626), KRAS(3845), HYLS1(219844), EFNB1(1947), TFAP2A(7020), SEMA3E(9723), PVRL1(5818)]
CLEFT PALATE(HP:0000175)	[ABCD3(5825), TBX4(9496), FOXE1(2304), PEX2(5828), TWIST1(7291), TBX15(6913), ATR(545), TGFBR1(7046), BRAF(673), FLNA(2316), GLI3(2737), FLNB(2317), MAP2K1(5604), SATB2(23314), MAP2K2(5605), ESCO2(157570), MID1(4281), BUB1B(701), SOX9(6662), PTCH1(5727), RPGRIP1L(23322), SLC35D1(23169), TCOF1(6949), CHRNA1(1134), HOXA2(3199), BMP4(652), GPC3(2719), BCOR(54880), IRF6(3664), PEX7(5191), B3GALTL(145173), MKS1(54903), MSX2(4488), GJA1(2697), CHRNG(1146), CHRND(1144), RECQL4(9401), PROKR2(128674), ACTB(60), WHCR(7467), CD96(10225), SEPT9(10801), WHSC1(7468), SIX3(6496), RAPSN(5913), ZEB2(9839), NBN(4683), FGFR2(2263), COL11A2(1302), COL11A1(1301), ZMPSTE24(10269), LMX1B(4010), EYA1(2138), MED12(9968), PTPN11(5781), DHCR24(1718), SLC26A2(1836), DHCR7(1717), DGCR(1714), CECR(1055), FAM20C(56975), KCNJ2(3759), FGD1(2245), WNT3(7473), COL2A1(1280), FREM2(341640), PQBP1(10084), GDF6(392255), NEB(4703), FOXC2(2303), FRAS1(80144), UBB(7314), HYAL1(3373), TP63(8626), TBX1(6899), PORCN(64840), KRAS(3845), HYLS1(219844), SEMA3E(9723), NIPBL(25836), EFNB1(1947), TFAP2A(7020), RUNX2(860), OFD1(8481), FAM123B(139285), DOK7(285489), RB1(5925), SMS(6611), PVRL1(5818), CHD7(55636)]
CLEFT SOFT PALATE(HP:0000185)	[TCOF1(6949)]
CLENCHED HANDS(HP:0001188)	[MOGS(7841), TPM2(7169)]
CLINODACTYLY OF FEET(HP:0001863)	[SALL1(6299), KCNJ2(3759)]
CLINODACTYLY OF HANDS(HP:0001157)	[EP300(2033), ATRX(546), TWIST1(7291), BBS5(129880), TRIM32(22954), TBX15(6913), ATR(545), ARL6(84100), NSD1(64324), H19(283120), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), ESCO2(157570), NOG(9241), ALX3(257), CRLF1(9244), EMG1(10436), IHH(3549), UBR1(197131), NKX2-5(1482), BBS9(27241), BMP4(652), B3GALTL(145173), ROR2(4920), BLM(641), ABCC8(6833), MKS1(54903), GJA1(2697), CREBBP(1387), RAB23(51715), PTH1R(5745), JAG1(182), BMPR1B(658), KCNJ11(3767), MKKS(8195), SNRPN(6638), CD96(10225), FGFR3(2261), GDF5(8200), FGFR2(2263), CEP290(80184), BBS12(166379), LMX1B(4010), INS(3630), MED12(9968), PTPN11(5781), FGF10(2255), GDF1(2657), NDN(4692), IGF1(3479), HOXA11(3207), KCNJ2(3759), HOXA13(3209), FGD1(2245), IGF1R(3480), EVC(2121), PQBP1(10084), TTC8(123016), ACVR1(90), ALG3(10195), GCK(2645), CLCF1(23529), PCNT(5116), BBS1(582), BBS2(583), BBS4(585), KRAS(3845), TFAP2B(7021), NIPBL(25836), EFNB1(1947), TFAP2A(7020), TRPV4(59341), BBS10(79738), ZFPM2(23414), OFD1(8481), FAM123B(139285), BBS7(55212), CUL7(9820), DPAGT1(1798)]
CLINODACTYLY OF THE 5TH FINGER(HP:0004209)	[EP300(2033), TWIST1(7291), TBX15(6913), ATR(545), GDF5(8200), FGFR2(2263), H19(283120), LMX1B(4010), FLNB(2317), GDF1(2657), HOXA11(3207), HOXA13(3209), KCNJ2(3759), EMG1(10436), IHH(3549), UBR1(197131), EVC(2121), NKX2-5(1482), PQBP1(10084), ACVR1(90), PCNT(5116), B3GALTL(145173), TFAP2B(7021), BLM(641), TFAP2A(7020), EFNB1(1947), NIPBL(25836), ZFPM2(23414), GJA1(2697), FAM123B(139285), CREBBP(1387), DPAGT1(1798), JAG1(182), BMPR1B(658)]
CLINODACTYLY, 3,5 FINGER(HP:0006181)	[FGF10(2255), FGFR3(2261)]
CLITOROMEGALY(HP:0000057)	[BSCL2(26580), PEX19(5824), ABCD3(5825), FRAS1(80144), CD96(10225), PEX2(5828), INSR(3643), PEX10(5192), PEX14(5195), PEX5(5830), PEX13(5194), ATR(545), PEX1(5189), ATIC(471), PEX3(8504), ESCO2(157570), POR(5447), AGPAT2(10555), FREM2(341640), UBR1(197131), PEX26(55670), CYP11B1(1584)]
CLONUS(HP:0002169)	[SLC25A15(10166), ZFYVE26(23503), NIPA1(123606), SPG20(23111), SPG11(80208), KIF5A(3798), ABCB7(22), CCT5(22948), SETX(23064), PC(5091), SLC16A2(6567)]
CLOVERLEAF SKULL(HP:0002676)	[FGFR1(2260), POR(5447), FGFR2(2263)]
CLUB-SHAPED DISTAL FEMUR(HP:0006384)	[ANKH(56172)]
CLUB-SHAPED PROXIMAL FEMURS(HP:0006406)	[COL2A1(1280)]
CLUBBING(HP:0001217)	[HPGD(3248), SFTPA2(729238), STK11(6794), SFTPB(6439), ENG(2022), SMAD4(4089), ACVRL1(94), BMPR1A(657), FLNB(2317)]
CLUMSINESS(HP:0002312)	[CLN5(1203), CDKL5(6792), CLN8(2055), ANCR(282), MTR(4548), MECP2(4204), UBE3A(7337), C10orf2(56652)]
CLUSTERS OF AXONAL REGENERATION(HP:0007233)	[NEFL(4747)]
COAGULOPATHY(HP:0001925)	[UQCRB(7381), SLC25A15(10166), DGUOK(1716), MPV17(4358), AKR1D1(6718), UQCRQ(27089), BCS1L(617), AMACR(23600), FLNA(2316), C10orf2(56652)]
COARCTATION OF AORTA(HP:0001680)	[MKS1(54903), DHCR7(1717), STRA6(64220), JAG1(182), GLI3(2737)]
COARSE FACIAL FEATURES(HP:0000280)	[ARSB(411), GUSB(2990), ATRX(546), RPS6KA3(6197), NSD1(64324), H19(283120), FLNA(2316), BRAF(673), SGSH(6448), IDS(3423), MAP2K1(5604), KCNQ1OT1(10984), MAP2K2(5605), HRAS(3265), PTCH1(5727), CTSA(5476), GNE(10020), NEU1(4758), GNPTAB(79158), GLB1(2720), FMR1(2332), GPC3(2719), AGA(175), AIP(9049), GALNS(2588), AP3B1(8546), SLC17A5(26503), NAGA(4668), NAGLU(4669), MAN2B1(4125), EHMT1(79813), INSR(3643), CDKN1C(1028), GNS(2799), PHF6(84295), DYM(54808), COL2A1(1280), HEXB(3074), FUCA1(2517), HGSNAT(138050), STAT3(6774), ROBLD3(28956), KRAS(3845), SUMF1(285362), SSTR5(6755), OFD1(8481), MMP2(4313), ANTXR2(118429), GNPTG(84572)]
COARSE HAIR(HP:0002208)	[SMARCAL1(50485), SGSH(6448), IKBKG(8517), HGSNAT(138050), GNS(2799), SEC23A(10484), BCS1L(617), NAGLU(4669), FLNA(2316), ATP7A(538)]
COCHLEAR MALFORMATION(HP:0008554)	[SLC26A4(5172), EYA1(2138)]
CODFISH VERTEBRAE(HP:0002952)	[AIP(9049), COL1A1(1277), CBS(875)]
COGNITIVE DECLINE(HP:0002303)	[PRNP(5621), CHMP2B(25978), ATP1A2(477), TSC1(7248), SPAST(6683), PSAP(5660), ATXN7(6314), PPT1(5538), PDE11A(50940), LRRK2(120892), PANK2(80025), PRKAR1A(5573), PRKCG(5582)]
COGNITIVE DECLINE, PROGRESSIVE(HP:0007155)	[ATP1A2(477)]
COGNITIVE DEFECTS(HP:0002441)	[CFH(3075), OPA3(80207), SPG7(6687), FTL(2512)]
COGNITIVE DEFICITS(HP:0002337)	[CTDP1(9150), EIF2B2(8892), EIF2B5(8893), GNAS(2778), GALE(2582), THRB(7068), SPG11(80208), EIF2B4(8890), EIF2B3(8891), EIF2B1(1967), TUBB2B(347733)]
COGNITIVE DELAY(HP:0002532)	[GALE(2582), TUBB2B(347733)]
COGNITIVE IMPAIRMENT(HP:0002128)	[AUH(549), SOST(50964), NAGS(162417), SDHA(6389), GJC2(57165), DCAF17(80067), TSC1(7248), POLG(5428), C10orf2(56652), ATXN7(6314), GRN(2896), ATXN10(25814), NPHP1(4867), NAGA(4668), LAMP2(3920), ATXN1(6310), SDHAF1(644096)]
COGNITIVE IMPAIRMENT, MILD(HP:0002129)	[NPHP1(4867), LAMP2(3920), ATXN1(6310), POLG(5428), C10orf2(56652)]
COGWHEEL RIGIDITY(HP:0002396)	[CP(1356)]
COLD-INDUCED HAND CRAMPS(HP:0003435)	[BSCL2(26580), GARS(2617)]
COLD-INDUCED MUSCLE CRAMPS(HP:0003449)	[BSCL2(26580), MPZ(4359), PMP22(5376), GARS(2617)]
COLLODION BABY(HP:0001021)	[ABHD5(51099), GTF2H5(404672), ERCC2(2068), ERCC3(2071)]
COLOBOMA(HP:0000589)	[FKRP(79147), FBN2(2201), EP300(2033), WHCR(7467), PAX6(5080), WHSC1(7468), HCCS(3052), LARGE(9215), ZEB2(9839), SALL4(57167), INPP5E(56623), CEP290(80184), PAX2(5076), ESCO2(157570), ALX3(257), SOX2(6657), CECR(1055), IGBP1(3476), FREM2(341640), POMT1(10585), PQBP1(10084), TCOF1(6949), FRAS1(80144), RBP4(5950), SHH(6469), ALG3(10195), TMEM216(51259), LRP2(4036), PORCN(64840), B3GALTL(145173), SEMA3E(9723), TFAP2A(7020), NIPBL(25836), MKS1(54903), FKTN(2218), GJA8(2703), GJA1(2697), CREBBP(1387), CHD7(55636), POMT2(29954)]
COLOBOMA OF IRIS, CHOROID AND RETINA(HP:0007748)	[SHH(6469), PAX6(5080), SEMA3E(9723), CHD7(55636)]
COLON CANCER(HP:0003003)	[MSH2(4436), APC(324), HRAS(3265), MLH1(4292), SMAD4(4089), TP53(7157), CDKN2A(1029), BMPR1A(657)]
COLON DIVERTICULA(HP:0002253)	[MSH2(4436), MLH1(4292), PTEN(5728), PKD2(5311), UBR1(197131), PKD1(5310)]
COLORBLINDNESS, PARTIAL, PROTAN SERIES(HP:0200018)	[OPN1LW(5956)]
COLUMELLA, LOW HANGING(HP:0009765)	[NOG(9241), ZEB2(9839)]
COLUMELLA, SHORT(HP:0002000)	[EP300(2033), ALX3(257), CREBBP(1387)]
COMA(HP:0001259)	[CPT1A(1374), CPS1(1373), FBP1(2203), GLUD1(2746), MMAA(166785), SH2D1A(4068), NAGS(162417), NSD1(64324), NDUFAF2(91942), SLC16A1(6566), MCCC1(56922), HMGCL(3155), OTC(5009), SLC22A5(6584), SLC7A7(9056), HLCS(3141), BTK(695), MC2R(4158), DNMT3B(1789), ACADM(34), NDUFAF3(25915), ASS1(445), DLD(1738), ASL(435), ETFDH(2110), ABCC8(6833), ETFB(2109), ETFA(2108), CACNA1A(773), C20orf7(79133), DBT(1629), ATP1A2(477), INSR(3643), FGFR1(2260), FGFR2(2263), MUT(4594), NDUFA1(4694), CFH(3075), MMAB(326625), GCK(2645), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), PCCB(5096), BCKDHA(593), NDUFV1(4723), NDUFS2(4720), OFD1(8481), HADH(3033), BCKDHB(594), NDUFS6(4726), IVD(3712), NDUFS4(4724), PCCA(5095)]
COMBINED HYPERLIPIDEMIA(HP:0008356)	[LPL(4023)]
COMBINED IMMUNODEFICIENCY(HP:0005387)	[ADA(100), BUB1B(701), SH2D1A(4068), IL2RG(3561)]
COMMUNICATING HYDROCEPHALUS(HP:0001334)	[DNAI1(27019)]
COMPENSATED HEMOLYTIC ANEMIA(HP:0004863)	[GPX1(2876)]
COMPENSATED HYPOTHYROIDISM(HP:0008223)	[NKX2-1(7080), SLC26A4(5172)]
COMPENSATORY CHIN ELEVATION(HP:0001477)	[TUBB3(10381), KIF21A(55605)]
COMPLEMENT DEFICIENCY(HP:0004431)	[LMNB2(84823), C8A(731), C8B(732), CFH(3075), CFI(3426), CFD(1675)]
COMPLETE ATRIOVENTRICULAR CANAL(HP:0001674)	[GATA1(2623), HYLS1(219844), DCR(1637)]
COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS(HP:0007953)	[NYX(60506)]
COMPLETE DUPLICATION OF THE PHALANGES OF THE HAND(HP:0009998)	[FANCD2(2177), FANCA(2175), FANCC(2176), FANCE(2178)]
COMPLETE DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009943)	[FANCD2(2177), FANCA(2175), FANCC(2176), FANCE(2178)]
COMPLETE HEART BLOCK(HP:0001709)	[PTPN11(5781), SCN5A(6331)]
COMPLETE HEART BLOCK WITH BROAD RS COMPLEXES(HP:0005170)	[SCN5A(6331)]
COMPLEX CARDIAC MALFORMATIONS(HP:0002565)	[FOXC2(2303), SALL1(6299), HIBCH(26275), GPC3(2719), TBX1(6899), STRA6(64220), NODAL(4838), SEMA3E(9723), ZFPM2(23414), ALX3(257), GDF1(2657), DGCR(1714), HOXD13(3239), RAB23(51715), JAG1(182), NKX2-5(1482), PQBP1(10084), CHD7(55636)]
COMPLEX PARTIAL SEIZURES(HP:0002384)	[LGI1(9211), GABRG2(2566), CLN8(2055), SCN1A(6323), TSC1(7248)]
CONCENTRIC HYPERTROPHIC CARDIOMYOPATHY(HP:0005157)	[TSFM(10102)]
CONDUCTIVE DEAFNESS(HP:0000367)	[ACTG1(71), SQSTM1(8878), WFS1(7466), DNAI1(27019), TMPRSS3(64699), EYA4(2070), BCS1L(617), GRHL2(79977), COL11A2(1302), EDNRB(1910), RDX(5962), NOG(9241), HGF(3082), KCNQ4(9132), FGF3(2248), DSPP(1834), MYH9(4627), CDH23(64072), UQCRQ(27089), USH1C(10083), COL2A1(1280), LHX3(8022), MYO15A(51168), TECTA(7007), SLC26A4(5172), PCDH15(65217), TCOF1(6949), DIAPH1(1729), UQCRB(7381), OPA1(4976), MYO7A(4647), TMC1(117531), OTOF(9381), FOXI1(2299), TRIOBP(11078), SOST(50964), NIPBL(25836), POU3F4(5456), GJB2(2706), MYH14(79784), DFNA5(1687), TNFRSF11A(8792)]
CONE-ROD DYSTROPHY(HP:0000548)	[MKKS(8195), CRX(1406), GUCY2D(3000), ALMS1(7840), CNNM4(26504)]
CONE-SHAPED CAPITAL FEMORAL EPIPHYSES(HP:0008789)	[IHH(3549)]
CONE-SHAPED EPIPHYSES(HP:0010579)	[TRPS1(7227), NPR2(4882), ATR(545), EVC2(132884), FGFR3(2261), GDF5(8200), FLNA(2316), EIF2AK3(9451), RUNX2(860), RMRP(6023), DYM(54808), COL2A1(1280), IHH(3549), EVC(2121)]
CONE-SHAPED EPIPHYSES OF MIDDLE AND PROXIMAL PHALANGES(HP:0006058)	[TRPS1(7227)]
CONE-SHAPED EPIPHYSES OF PHALANGES 2 TO 5(HP:0006035)	[EVC2(132884), EVC(2121)]
CONE-SHAPED EPIPHYSES OF THE MIDDLE PHALANGES OF THE HAND(HP:0010259)	[TRPS1(7227), GDF5(8200)]
CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230)	[TRPS1(7227), NPR2(4882), ATR(545), EVC2(132884), FGFR3(2261), GDF5(8200), FLNA(2316), EIF2AK3(9451), RUNX2(860), RMRP(6023), DYM(54808), COL2A1(1280), IHH(3549), EVC(2121)]
CONE-SHAPED EPIPHYSES OF THE PROXIMAL PHALANGES OF THE HAND(HP:0010270)	[TRPS1(7227), IHH(3549)]
CONE-SHAPED EPIPHYSES OF THE THUMB(HP:0009688)	[IHH(3549)]
CONE-SHAPED EPIPHYSIS OF THE 1ST METACARPAL(HP:0010017)	[IHH(3549)]
CONE-SHAPED METACARPAL EPIPHYSES(HP:0006059)	[IHH(3549)]
CONFETTI-LIKE HYPOPIGMENTED MACULES(HP:0007449)	[MEN1(4221)]
CONFUSION(HP:0001289)	[AMN(81693), PRNP(5621), ATP1A2(477), CPOX(1371), NAGS(162417), TBP(6908), MMACHC(25974), FLNA(2316), SLC22A5(6584), CACNA1A(773), ADAMTS13(11093), SLC2A1(6513), CUBN(8029)]
CONGENITAL ADRENAL HYPERPLASIA(HP:0008258)	[CYP11B1(1584)]
CONGENITAL AGRANULOCYTOSIS(HP:0005541)	[AK2(204)]
CONGENITAL ALVEOLAR PROTEINOSIS(HP:0006517)	[SFTPB(6439)]
CONGENITAL BILATERAL HIP DISLOCATION(HP:0008780)	[COL1A2(1278), COL1A1(1277)]
CONGENITAL BLEEDING DIATHESIS(HP:0004834)	[GP1BA(2811), GP9(2815), GP1BB(2812)]
CONGENITAL BLINDNESS(HP:0007875)	[ATIC(471), CEP290(80184)]
CONGENITAL BOWING OF THE LONG BONES(HP:0006451)	[LIFR(3977)]
CONGENITAL CATARACT(HP:0000519)	[CTDP1(9150), RET(5979), NHS(4810), SDHD(6392), SDHB(6390), OCRL(4952), COL11A1(1301), COL18A1(80781), CRYBA1(1411), FAM126A(84668), MYH9(4627), COL4A1(1282), COL4A5(1287), PHGDH(26227), CRYGD(1421), FTL(2512), ITM2B(9445), KIF1B(23095), BCOR(54880), PEX7(5191), ETFDH(2110), BFSP2(8419), ETFB(2109), VHL(7428), ETFA(2108), GJA8(2703), HSF4(3299), SIL1(64374), RAB3GAP1(22930)]
CONGENITAL COMPLETE ACHROMATOPSIA(HP:0007803)	[CNGB3(54714)]
CONGENITAL CONDUCTIVE DEAFNESS(HP:0008525)	[MYO7A(4647)]
CONGENITAL CONTRACTURES(HP:0002803)	[CHRNA1(1134), FKRP(79147), CHAT(1103), ALG3(10195), VPS33B(26276), LARGE(9215), RAPSN(5913), TNNI2(7136), MYH3(4621), TNNT3(7140), MUSK(4593), PLOD2(5352), FKTN(2218), EGR2(1959), MPZ(4359), CHRNG(1146), CHRNE(1145), CHRND(1144), GBE1(2632), TPM2(7169), VRK1(7443), CHRNB1(1140), POMT1(10585), POMT2(29954)]
CONGENITAL CORNEAL DYSTROPHY(HP:0008005)	[SLC4A11(83959)]
CONGENITAL DEAFNESS(HP:0001728)	[MYO7A(4647), THRB(7068)]
CONGENITAL DYSERYTHROPOIETIC ANEMIA(HP:0005545)	[HBB(3043)]
CONGENITAL EARLOBE SINUSES(HP:0004461)	[SEC23A(10484)]
CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES(HP:0001491)	[TUBB3(10381), KIF21A(55605), PHOX2A(401)]
CONGENITAL FINGER FLEXION CONTRACTURES(HP:0005879)	[PRG4(10216)]
CONGENITAL GLAUCOMA(HP:0001087)	[CYP1B1(1545), TWIST1(7291), FOXC1(2296), MYH9(4627), FGFR2(2263)]
CONGENITAL GOITER(HP:0008251)	[NKX2-1(7080), TG(7038)]
CONGENITAL HEARING LOSS(HP:0001729)	[MYO7A(4647), THRB(7068), PRPS1(5631)]
CONGENITAL HEINZ BODY ANEMIA(HP:0005511)	[HBA1(3039), HBB(3043)]
CONGENITAL HEMOLYTIC ANEMIA(HP:0004804)	[RMRP(6023)]
CONGENITAL HIP DISLOCATION(HP:0001374)	[MKKS(8195), HSPG2(3339), RYR1(6261), PORCN(64840), FLNA(2316), EYA1(2138), OFD1(8481), TPM2(7169), COL1A2(1278), NSDHL(50814), ACTA1(58), ZNF469(84627), COL1A1(1277), WNT7A(7476)]
CONGENITAL HYPERTROPHY OF RETINAL PIGMENT EPITHELIUM(HP:0007649)	[APC(324)]
CONGENITAL HYPOPARATHYROIDISM(HP:0008198)	[TBCE(6905)]
CONGENITAL HYPOPLASTIC ANEMIA(HP:0004810)	[RMRP(6023), RPS19(6223)]
CONGENITAL HYPOTHYROIDISM(HP:0000851)	[NKX2-1(7080), THRA(7067), TSHB(7252), TSHR(7253), SLC5A5(6528)]
CONGENITAL HYPOTRICHOSIS(HP:0004525)	[CDH3(1001)]
CONGENITAL ICHTHYOSIFORM ERYTHRODERMA(HP:0007431)	[EBP(10682), GTF2H5(404672), ERCC2(2068), TGM1(7051), ERCC3(2071), NSDHL(50814), ALOX12B(242), ALOXE3(59344)]
CONGENITAL ICHTHYOSIS(HP:0007484)	[ABCA12(26154), ST14(6768), ERCC2(2068), TGM1(7051), KRT1(3848), STS(412), CLDN1(9076), KRT2(3849), GJB2(2706), ALDH3A2(224), MBTPS2(51360), POMP(51371), KRT10(3858)]
CONGENITAL KYPHOSCOLIOSIS(HP:0008453)	[FBN2(2201)]
CONGENITAL LACTIC ACIDOSIS(HP:0004902)	[OGDH(4967)]
CONGENITAL LAMELLAR ICHTHYOSIS(HP:0007388)	[SPINK5(11005)]
CONGENITAL LENS DISLOCATION(HP:0007882)	[FBN1(2200)]
CONGENITAL LOCALIZED ABSENCE OF SKIN(HP:0007383)	[LAMB3(3914), COL7A1(1294), LAMC2(3918), LAMA3(3909)]
CONGENITAL MACROORCHIDISM(HP:0008640)	[FMR1(2332)]
CONGENITAL MEGACOLON(HP:0002251)	[MKKS(8195), RET(5979), BBS5(129880), TRIM32(22954), ZEB2(9839), ARL6(84100), GATA1(2623), SALL4(57167), PHOX2B(8929), CEP290(80184), BBS12(166379), EDN3(1908), PAX3(5077), EDNRB(1910), DCR(1637), BDNF(627), RMRP(6023), SOX10(6663), DHCR7(1717), L1CAM(3897), BBS9(27241), GDNF(2668), TTC8(123016), BBS1(582), BBS2(583), BBS4(585), SLC6A8(6535), BBS10(79738), MKS1(54903), BBS7(55212), ASCL1(429), MBTPS2(51360), KIAA1279(26128)]
CONGENITAL MUSCULAR DYSTROPHY(HP:0003741)	[FKRP(79147), FKTN(2218), LARGE(9215), POMT1(10585), POMT2(29954)]
CONGENITAL NEPHROSIS(HP:0008677)	[NPHS1(4868), AFP(174)]
CONGENITAL NIGHT BLINDNESS(HP:0007684)	[GRK1(6011), PDE6B(5158), SAG(6295)]
CONGENITAL NON-PROGRESSIVE, NON-SYNDROMIC SENSORINEURAL HEARING LOSS(HP:0004457)	[COL11A2(1302)]
CONGENITAL NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA(HP:0007479)	[ABHD5(51099), TGM1(7051), ALOX12B(242), ALOXE3(59344)]
CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0004824)	[G6PD(2539), ALDOA(226)]
CONGENITAL NUCLEAR CATARACT(HP:0008024)	[FTL(2512)]
CONGENITAL NYSTAGMUS(HP:0006934)	[FRMD7(90167), PAX6(5080)]
CONGENITAL ONYCHODYSTROPHY(HP:0008394)	[KRT85(3891)]
CONGENITAL PALMOPLANTAR KERATOSIS(HP:0007545)	[CTSC(1075)]
CONGENITAL PARTIAL ALBINISM (LEUCODERMA) ON FACE, TRUNK, OR LIMBS(HP:0001044)	[MITF(4286), PAX3(5077)]
CONGENITAL PRIMARY APHAKIA(HP:0007707)	[MKKS(8195), FOXE3(2301), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), ARL6(84100), BBS4(585), CEP290(80184), BBS12(166379), BBS10(79738), MKS1(54903), BBS7(55212), BBS9(27241), TTC8(123016)]
CONGENITAL PTOSIS(HP:0007970)	[ZFHX4(79776)]
CONGENITAL PYLORIC ATRESIA(HP:0004399)	[ITGB4(3691), ITGA6(3655)]
CONGENITAL RETINAL FOLDS(HP:0008013)	[NDP(4693), FZD4(8322), LRP5(4041)]
CONGENITAL SCOLIOSIS, PROGRESSIVE(HP:0008458)	[PLOD1(5351)]
CONGENITAL SECRETORY DIARRHEA(HP:0005208)	[SPINT2(10653)]
CONGENITAL SENSORINEURAL DEAFNESS(HP:0008620)	[MYO7A(4647), MITF(4286), SLC26A4(5172), PAX3(5077)]
CONGENITAL SENSORINEURAL HEARING LOSS(HP:0008527)	[KCNQ1(3784), COL11A2(1302)]
CONGENITAL SEPTAL DEFECT(HP:0004760)	[SLC19A2(10560)]
CONGENITAL SPINAL STENOSIS DUE TO SHORT PEDICLES(HP:0004597)	[FGFR3(2261)]
CONGENITAL STAPES ANKYLOSIS(HP:0007943)	[NOG(9241)]
CONGENITAL STATIONARY NIGHT BLINDNESS(HP:0007642)	[RHO(6010), CACNA1F(778), PDE6B(5158)]
CONGENITAL STRABISMUS(HP:0000487)	[SALL4(57167)]
CONGENITAL SYMMETRICAL PALMOPLANTAR KERATOSIS(HP:0007553)	[SLURP1(57152)]
CONGENITAL THROMBOCYTOPENIA(HP:0001905)	[WAS(7454), GATA1(2623)]
CONGENITAL VERTICAL TALUS(HP:0010218)	[PEX19(5824), PEX10(5192), PEX5(5830), PEX14(5195), RAPSN(5913), PEX13(5194), FGFR1(2260), PEX1(5189), FGFR2(2263), ERCC6(2074), PEX3(8504), ZMPSTE24(10269), FLNA(2316), DOK7(285489), CHRNG(1146), HOXD10(3236), POR(5447), EMG1(10436), PEX26(55670)]
CONGESTIVE HEART FAILURE(HP:0001635)	[FBN1(2200), SCN5A(6331), PLOD1(5351), RET(5979), MYBPC3(4607), LMNA(4000), ACAD9(28976), SDHD(6392), SDHB(6390), SGCB(6443), PRPS1(5631), DNAJC19(131118), PRKAG2(51422), PRPS2(5634), IDS(3423), TTR(7276), TRIM37(4591), DSP(1832), MYH7(4625), ENG(2022), APOA1(335), HFE(3077), GNPTAB(79158), GLB1(2720), ADAMTSL2(9719), GLA(2717), ABCC6(368), KIF1B(23095), CAV3(859), PEX7(5191), TF(7018), TAZ(6901), MYLK2(85366), VHL(7428), PHYH(5264), RAB3GAP2(25782), HADHB(3032), SLC25A4(291), PRKAR1A(5573), SLC17A5(26503), ALMS1(7840), TPI1(7167), RPS19(6223), COL1A1(1277), DMD(1756), HADHA(3030)]
CONICAL TEETH(HP:0000698)	[EDA(1896), TP63(8626), EVC(2121)]
CONJUGATED HYPERBILIRUBINEMIA(HP:0002908)	[SLC17A5(26503), ABCC2(1244), ATP8B1(5205), ABCB11(8647)]
CONJUNCTIVAL TELANGIECTASIA(HP:0000524)	[ATM(472), ENG(2022), SETX(23064), CTSA(5476), ACVRL1(94)]
CONJUNCTIVAL WHITISH 'SALT-LIKE' DEPOSITS(HP:0007799)	[KL(9365), GALNT3(2591), FGF23(8074)]
CONJUNCTIVITIS(HP:0000509)	[FOXC2(2303), GJB6(10804), BTD(686), DDB2(1643), ERCC2(2068), NLRP3(114548), TP63(8626), TNFRSF13B(23495), DKC1(1736), FGFR2(2263), UROS(7390), ERCC6(2074), POLH(5429), COL7A1(1294), RAG2(5897), RAG1(5896), SAMD9(54809), BTK(695), XPC(7508), ICOS(29851), XPA(7507)]
CONOTRUNCAL DEFECT(HP:0001710)	[EHMT1(79813)]
CONSTIPATION(HP:0002019)	[PRNP(5621), RET(5979), EP300(2033), ATRX(546), CPOX(1371), SIX3(6496), PPOX(5498), DDC(1644), ZEB2(9839), PHOX2B(8929), ANCR(282), OCRL(4952), MECP2(4204), AVPR2(554), BRAF(673), MAP2K1(5604), MED12(9968), MAP2K2(5605), IKBKAP(8518), TTR(7276), DHCR7(1717), CDKL5(6792), COL7A1(1294), L1CAM(3897), HMBS(3145), KCNJ1(3758), TRH(7200), UBE3A(7337), GDNF(2668), SLC5A5(6528), KRAS(3845), SLC6A8(6535), DES(1674), AQP2(359), IGHMBP2(3508), SLC12A1(6557), ALPL(249), CREBBP(1387), VANGL1(81839), MNX1(3110), CASR(846), MLYCD(23417), SMPD1(6609), PAX8(7849)]
CONSTRICTED ILIAC WINGS(HP:0003277)	[GALNS(2588), GLB1(2720)]
CONSTRICTED RETINAL ARTERIOLES(HP:0008043)	[PRPF3(9129)]
CONSTRICTED VISUAL FIELDS(HP:0001133)	[CRX(1406), IMPDH1(3614), MERTK(10461), RPGR(6103), PRPF8(10594), RP2(6102), RP1(6101), CYP4V2(285440), RP9(6100), SOST(50964), TIMM8A(1678), CNGB1(1258), CHM(1121), USH2A(7399), SH3BP2(6452), SPATA7(55812)]
CONSTRICTIVE PERICARDITIS(HP:0002563)	[PRG4(10216)]
CONTIGUOUS GENE SYNDROME(HP:0001466)	[NR0B1(190), RPS14(6208), PAX3(5077)]
CONTRACTURES(HP:0001371)	[FBN1(2200), BIN1(274), FBN2(2201), GUSB(2990), ERCC2(2068), ERCC3(2071), MYH3(4621), SGCB(6443), PLP1(5354), CAPN3(825), SGCG(6445), MTM1(4534), SLC16A2(6567), MYF6(4618), IDS(3423), ITGB4(3691), NSDHL(50814), PMM2(5373), DNM2(1785), POMT1(10585), CHRNA1(1134), PLEKHG5(57449), ACADS(35), SEPN1(57190), NOD2(64127), EMD(2010), PEX7(5191), UROS(7390), ABCC8(6833), LAMA2(3908), GTF2H5(404672), SLC9A6(10479), ARX(170302), CHRNG(1146), GNPAT(8443), CHRND(1144), SIL1(64374), ACTA1(58), SLC12A6(9990), NAGA(4668), PTH1R(5745), DMD(1756), CPT2(1376), GAD1(2571), ITGA6(3655), KCNJ11(3767), RYR1(6261), LMNA(4000), FGFR1(2260), OCRL(4952), FGFR2(2263), HSPD1(3329), COL11A2(1302), PAX3(5077), ZMPSTE24(10269), INS(3630), MED12(9968), COL6A1(1291), SPG20(23111), PPT1(5538), L1CAM(3897), COL7A1(1294), COL6A2(1292), COL6A3(1293), COL2A1(1280), GDAP1(54332), FUCA1(2517), PRG4(10216), NEB(4703), ALG3(10195), ALG1(56052), GCK(2645), UBA1(7317), TNNI2(7136), WISP3(8838), TNNT1(7138), TNNT3(7140), LIFR(3977), ANTXR2(118429), MMP2(4313), TPM2(7169), CHST3(9469)]
CONTRACTURES INVOLVING THE JOINTS OF THE FEET(HP:0008366)	[HSPG2(3339), FKRP(79147), MYOT(9499), HRAS(3265), LMNA(4000), LARGE(9215), ALS2(57679), EMD(2010), MYH3(4621), LIFR(3977)]
CONTRACTURES INVOLVING THE TOES(HP:0008367)	[HSPG2(3339), MYH3(4621), LIFR(3977)]
CONTRACTURES OF THE ANKLES(HP:0006466)	[ESCO2(157570), COL6A1(1291), MMP2(4313), COL6A2(1292), COL6A3(1293), DPM1(8813)]
CONTRACTURES OF THE HANDS(HP:0006096)	[ALG3(10195)]
CONTRACTURES OF THE HANDS, MILD(HP:0006173)	[DHCR24(1718)]
CONTRACTURES OF THE PROXIMAL INTERPHALANGEAL JOINTS OF THE FINGERS(HP:0009698)	[FBN2(2201)]
COR PULMONALE(HP:0001648)	[CFTR(1080), FLNA(2316)]
CORNEAL ARCUS(HP:0001084)	[APOB(338), LDLR(3949), APOA2(336)]
CORNEAL CLOUDING(HP:0000515)	[PEX19(5824), ARSB(411), ABCD3(5825), GUSB(2990), SLC4A4(8671), PEX2(5828), STS(412), PEX5(5830), ERCC6(2074), FLNB(2317), ESCO2(157570), SLC4A11(83959), CTSA(5476), GNPTAB(79158), SC5DL(6309), GLB1(2720), PEX10(5192), NTRK1(4914), PEX14(5195), PEX13(5194), PEX1(5189), KERA(11081), GALNS(2588), MCOLN1(57192), LCAT(3931), GJA8(2703), RAB23(51715), TRAPPC2(6399), PAX6(5080), HCCS(3052), ERCC8(1161), DGCR(1714), NDP(4693), RAX(30062), APOA1(335), FREM2(341640), PEX26(55670), PITX3(5309), SMARCAL1(50485), FRAS1(80144), ST14(6768), FOXE3(2301), CHST6(4166), KRT3(3850), TBX1(6899), PEX3(8504), LIFR(3977), ALDH3A2(224), MMP2(4313), GBA(2629), KRT12(3859)]
CORNEAL CRYSTALS(HP:0000531)	[CTNS(1497)]
CORNEAL DEGENERATION(HP:0007705)	[SAT1(6303)]
CORNEAL DYSTROPHY(HP:0001131)	[SLC4A11(83959), PIKFYVE(200576), KRT3(3850), OSMR(9180), TACSTD2(4070), CYP4V2(285440), GSN(2934), UBIAD1(29914), COL8A2(1296), TGFBI(7045), KRT12(3859), VSX1(30813)]
CORNEAL ERSIONS(HP:0200020)	[FOXC2(2303), IKBKAP(8518), FGF10(2255), NTRK1(4914), FGFR3(2261), KIAA1279(26128), TGFBI(7045), GJB2(2706)]
CORNEAL OPACITIES ON SLIT-LAMP EXAM(HP:0007896)	[GNPTAB(79158)]
CORNEAL OPACITIES, NOT IMPAIRING VISUAL ACUITY(HP:0007759)	[STS(412)]
CORNEAL PARENCHYMAL OPACITIES(HP:0007662)	[KERA(11081)]
CORNEAL SCARRING(HP:0000559)	[COL7A1(1294), NTRK1(4914), TGFBI(7045), UROS(7390)]
CORONAL CLEFT VERTEBRAE(HP:0003417)	[HSPG2(3339), CHST3(9469), PEX7(5191), COL2A1(1280), COL11A2(1302), FLNB(2317)]
CORONAL CRANIOSYNOSTOSIS(HP:0004440)	[TWIST1(7291), FGFR1(2260), CCBE1(147372), FGFR3(2261), RECQL4(9401), FGFR2(2263), RAB23(51715), EFNB1(1947)]
CORONAL HYPOSPADIAS(HP:0008743)	[FGF10(2255), FGFR3(2261)]
CORONARY ARTERY CALCIFICATION(HP:0001717)	[HGD(3081), ENPP1(5167)]
CORONARY ARTERY DISEASE(HP:0001677)	[GLA(2717), ABCG8(64241), SERPIND1(3053), ENPP1(5167), LMNA(4000), ABCG5(64240), ABCC6(368), LDLR(3949), APOB(338), APOA2(336), APOE(348), LIPC(3990), TTR(7276), LPL(4023), CYP27A1(1593), MYH9(4627), APOA1(335), CBS(875)]
CORONARY ARTERY DISEASE PRESENTING AFTER AGE 30 YEARS IN HETEROZYGOTES, IN CHILDHOOD IN HOMOZYGOTES(HP:0005138)	[LDLR(3949), APOA2(336)]
CORONARY ATHEROSCLEROSIS(HP:0004929)	[ABCG8(64241), ABCG5(64240), APOA1(335)]
CORTICAL BLINDNESS(HP:0000595)	[NAGA(4668), TIMM8A(1678), POLG(5428), DPM1(8813)]
CORTICAL DYSPLASIA(HP:0002539)	[SNAP29(9342), HSD17B4(3295), TUBB2B(347733)]
CORTICAL IRREGULARITY(HP:0005731)	[SH3PXD2B(285590)]
CORTICAL THICKENING OF LONG BONE DIAPHYSES(HP:0005791)	[TGFB1(7040)]
CORTICAL TUBERS(HP:0009717)	[TSC1(7248), TSC2(7249)]
CORTICALLY DENSE LONG TUBULAR BONES(HP:0006415)	[SOST(50964)]
CORTICOMEDULLARY CYSTS(HP:0000108)	[NPHP1(4867), NPHP3(27031), NIPBL(25836)]
CORTICOSPINAL SIGNS(HP:0007225)	[PANK2(80025), ATXN1(6310)]
CORTICOSPINAL TRACT DISEASE IN LOWER LIMBS(HP:0007163)	[MAN2B1(4125)]
CORTICOSPINAL TRACT DYSFUNCTION(HP:0002493)	[SACS(26278)]
CORTICOSPINAL TRACT HYPOPLASIA(HP:0007016)	[L1CAM(3897)]
COSTAL CARTILAGE CALCIFICATION(HP:0006646)	[SLC26A2(1836)]
COXA MAGNA(HP:0003279)	[TRPS1(7227)]
COXA PLANA(HP:0003280)	[TRPS1(7227)]
COXA VALGA(HP:0002673)	[HSPG2(3339), ADAMTSL2(9719), ATRX(546), RPS6KA3(6197), GALNS(2588), NSD1(64324), ERCC6(2074), COL11A1(1301), B4GALT7(11285), FLNA(2316), EIF2AK3(9451), SIL1(64374), FUCA1(2517), RAB23(51715), MGAT2(4247), GLB1(2720), ATP7A(538), CANT1(124583)]
COXA VARA(HP:0002812)	[TRAPPC2(6399), HSPG2(3339), EXT2(2132), PCNT(5116), EXT1(2131), CRTAP(10491), WISP3(8838), MMP13(4322), RUNX2(860), TRPV4(59341), SBDS(51119), MATN3(4148), COL2A1(1280), PRG4(10216), IHH(3549), TCIRG1(10312), CANT1(124583)]
CRANIAL ASYMMETRY(HP:0000267)	[WHCR(7467), WHSC1(7468)]
CRANIAL DYSTONIA(HP:0001494)	[THAP1(55145)]
CRANIAL HYPEROSTOSIS(HP:0004437)	[TNFSF11(8600), CA2(760), GNAS(2778), ALMS1(7840), SOST(50964), PTEN(5728)]
CRANIAL NERVE COMPRESSION(HP:0001293)	[TNFSF11(8600), CLCN7(1186), CA2(760), SOST(50964), TGFB1(7040)]
CRANIAL NERVE INVOLVEMENT(HP:0003480)	[SH3TC2(79628), EGR2(1959), MPZ(4359)]
CRANIAL NERVE MOTOR LOSS(HP:0007097)	[C20orf54(113278)]
CRANIAL NERVE PALSIES CAN ARISE WITH HEAD AND NECK PARAGANGLIOMAS(HP:0002377)	[SDHD(6392), SDHC(6391), SDHB(6390), SDHAF2(54949)]
CRANIAL NERVE PARALYSIS(HP:0006824)	[SQSTM1(8878), LYST(1130), ZIC4(84107), SOST(50964), SDHD(6392), SDHC(6391), SDHB(6390), EYA1(2138), SDHAF2(54949), ESCO2(157570), ZIC1(7545), TNFRSF11A(8792), TCIRG1(10312)]
CRANIAL NERVE VII PALSY(HP:0007212)	[EYA1(2138)]
CRANIOFACIAL DISPROPORTION(HP:0005461)	[H19(283120)]
CRANIOFACIAL DYSMORPHISM(HP:0002260)	[H19(283120)]
CRANIOFACIAL DYSOSTOSIS(HP:0004439)	[TCOF1(6949), FGFR2(2263)]
CRANIOFACIAL HYPEROSTOSIS(HP:0004493)	[GNAS(2778)]
CRANIOSTENOSIS(HP:0001365)	[ALPL(249)]
CRANIOSYNOSTOSIS(HP:0001363)	[FBN1(2200), BMP4(652), STAT3(6774), TWIST1(7291), FGFR1(2260), CCBE1(147372), TGFBR1(7046), FGFR3(2261), B3GALTL(145173), FGFR2(2263), EFNB1(1947), GLI3(2737), ESCO2(157570), ALPL(249), POR(5447), RECQL4(9401), RAB23(51715), GNPTAB(79158), DMP1(1758)]
CRANIOSYNOSTOSIS (CORONAL, SAGITTAL, LAMBDOID SUTURES)(HP:0002685)	[RECQL4(9401), FGFR2(2263), RAB23(51715)]
CRANIOSYNOSTOSIS OF CORONAL, LAMBDOID, AND/OR METOPIC SUTURES(HP:0005457)	[TWIST1(7291), FGFR2(2263)]
CRANIOSYNOSTOSIS, CORONAL AND LAMBDOIDAL(HP:0004441)	[FGFR1(2260), FGFR2(2263)]
CRANIUM BIFIDUM OCCULTUM(HP:0004423)	[MSX2(4488), ALX3(257)]
CRUSTING ERYTHEMATOUS DERMATITIS(HP:0007473)	[PEPD(5184)]
CRYPTOPHTHALMOS(HP:0001126)	[FRAS1(80144), FREM2(341640)]
CRYPTORCHIDISM(HP:0000028)	[FBN1(2200), ATRX(546), ATR(545), MYH3(4621), CCBE1(147372), NSD1(64324), H19(283120), DNAJC19(131118), GLI3(2737), KCNQ1OT1(10984), ESCO2(157570), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), AMH(268), AMHR2(269), SALL1(6299), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), SEC23A(10484), PEX1(5189), B3GALTL(145173), ROR2(4920), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CREBBP(1387), POR(5447), RAB23(51715), MKKS(8195), SNRPN(6638), ZEB2(9839), RAPSN(5913), FGFR1(2260), EVC2(132884), OCRL(4952), FGFR2(2263), MECP2(4204), CDKN1C(1028), CUL4B(8450), SOS1(6654), NDN(4692), PHF6(84295), POLA1(5422), FGD1(2245), GPC6(10082), PEX26(55670), FOXC2(2303), TBCE(6905), LHCGR(3973), UBA1(7317), KAL1(3730), OPHN1(4983), PORCN(64840), PEX3(8504), NIPBL(25836), KDM5C(8242), DOK7(285489), AR(367), SMS(6611), CHD7(55636), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), STS(412), PEX5(5830), STRA6(64220), ERCC6(2074), FLNA(2316), MTM1(4534), FLNB(2317), MID1(4281), BUB1B(701), SOX2(6657), TCOF1(6949), BMP4(652), TSPYL1(7259), IRF6(3664), DKC1(1736), BLM(641), MKS1(54903), ARX(170302), NR0B1(190), RECQL4(9401), RAB3GAP1(22930), HSPG2(3339), WHCR(7467), CD96(10225), WHSC1(7468), INSL3(3640), ERCC8(1161), MED12(9968), PTPN11(5781), DHCR7(1717), RXFP2(122042), FREM2(341640), WNT7A(7476), EVC(2121), FRAS1(80144), FANCA(2175), TP63(8626), TFAP2A(7020), SEMA3E(9723), TPM2(7169)]
CRYSTALLINE CORNEAL DYSTROPHY(HP:0007760)	[UBIAD1(29914)]
CUBITUS VALGUS(HP:0002967)	[PEX19(5824), ABCD3(5825), VPS13B(157680), PEX2(5828), CLCF1(23529), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), PTPN11(5781), NOG(9241), SOS1(6654), GJA1(2697), SIL1(64374), CHST3(9469), PEX26(55670)]
CUP-SHAPED EARS(HP:0000378)	[FOXL2(668), DHCR24(1718), FRAS1(80144), FGF10(2255), IGBP1(3476), ZEB2(9839), FGFR3(2261), FREM2(341640), SEMA3E(9723), PQBP1(10084), CHD7(55636), EYA1(2138)]
CUPPED RIBS(HP:0000887)	[MATN3(4148), IHH(3549), DDR2(4921)]
CURLY HAIR(HP:0002212)	[ST14(6768), JUP(3728), HRAS(3265), GAN(8139)]
CURVATURES OF THE FEMUR, TIBIA, FIBULA(HP:0002976)	[CLCN5(1184), PHEX(5251), CYP27B1(1594), SLC34A3(142680), VDR(7421), CYP2R1(120227)]
CURVED LINEAR DIMPLE BELOW THE LOWER LIP(HP:0002055)	[FGD1(2245)]
CUSHING SYNDROME(HP:0000850)	[RET(5979), PDE11A(50940), GNAS(2778), PRKAR1A(5573), MEN1(4221)]
CUTANEOUS LEIOMYOMATA(HP:0007620)	[FH(2271)]
CUTANEOUS LEIOMYOSARCOMA(HP:0006755)	[FH(2271)]
CUTANEOUS SYNDACTYLY OF THE FINGERS(HP:0010554)	[FRAS1(80144), NOG(9241), HOXD13(3239), FGFR1(2260), CCBE1(147372), IRF6(3664), LMBR1(64327), FGFR2(2263), FREM2(341640), PVRL1(5818)]
CUTANEOUS SYNDACTYLY OF THE TOES(HP:0010621)	[NOG(9241), GJA1(2697), MYH8(4626), LMBR1(64327), PVRL1(5818)]
CUTIS GYRATA OF PALMS AND SOLES(HP:0007469)	[B4GALT7(11285)]
CUTIS LAXA(HP:0000973)	[PEX19(5824), PLOD1(5351), CD96(10225), NPR2(4882), EFEMP2(30008), PEX5(5830), RPS6KA3(6197), NSD1(64324), LOX(4015), FGFR2(2263), SLC7A7(9056), HRAS(3265), FBLN5(10516), GSN(2934), PEX26(55670), LAMB1(3912), ELN(2006), SLC2A10(81031), OSMR(9180), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), ATP6V0A2(23545), GORAB(92344), ZNF469(84627), ATP7A(538), ADAMTS2(9509)]
CUTIS MARMORATA(HP:0000965)	[RPS6KA3(6197), NIPBL(25836)]
CYANOSIS(HP:0000961)	[HBB(3043), CYB5A(1528), SCN2A(6326), PRKAG2(51422), JAK2(3717), IKBKAP(8518), MPL(4352), GJA1(2697), THPO(7066), HBA1(3039), TREX1(11277), AGXT(189), ENG(2022), CYB5R3(1727), ACVRL1(94)]
CYCLOPIA(HP:0009914)	[SHH(6469)]
CYSTATHIONINEMIA(HP:0003286)	[LMBRD1(55788), MMACHC(25974)]
CYSTATHIONINURIA(HP:0003153)	[CTH(1491), LMBRD1(55788), MMACHC(25974)]
CYSTIC ABNORMALITIES OF THE OVARIES(HP:0000146)	[PPP1R3A(5506), BSCL2(26580), PPARG(5468), INSR(3643), LMNA(4000), STK11(6794), AGPAT2(10555), HNF1A(6927), POR(5447), FST(10468), CYP19A1(1588), PTEN(5728)]
CYSTIC HYGROMA OF THE NECK(HP:0000476)	[PTPN11(5781), CHRNA1(1134), LBR(3930), CHRNG(1146), CHRND(1144), COL2A1(1280)]
CYSTIC LESIONS OF THE PINNAE(HP:0010723)	[SLC26A2(1836)]
CYSTIC LIVER DISEASE(HP:0006706)	[PRKCSH(5589), PKHD1(5314), SEC63(11231), NPHP3(27031), PKD2(5311), PKD1(5310)]
CYSTIC MALFORMATIONS AFFECTING THE CENTRAL NERVOUS SYSTEM(HP:0010576)	[PEX19(5824), FKRP(79147), CD96(10225), PDHA1(5160), LARGE(9215), PEX5(5830), ZIC4(84107), EVC2(132884), OCRL(4952), FGFR2(2263), GLI3(2737), DHCR7(1717), BUB1B(701), NPHP1(4867), ZIC1(7545), NPHP3(27031), POMT1(10585), EVC(2121), PEX26(55670), PEX10(5192), PEX14(5195), PEX13(5194), OPHN1(4983), PEX1(5189), D2HGDH(728294), PEX3(8504), HYLS1(219844), NIPBL(25836), EBP(10682), MKS1(54903), FKTN(2218), GFM1(85476), PLG(5340), PDHX(8050), CPT2(1376), POMT2(29954)]
CYSTIC RETINAL DEGENERATION(HP:0007667)	[RS1(6247)]
CYSTINURIA(HP:0003131)	[SLC3A1(6519), ARG1(383), SLC7A9(11136)]
CYSTOID MACULAR DEGENERATION(HP:0008028)	[BEST1(7439), NR2E3(10002)]
CYSTS OF THE EYELID(HP:0010604)	[LIPA(3988), LPL(4023), APOB(338), LDLR(3949), TTPA(7274), CYP27A1(1593), APOA2(336), SMPD1(6609)]
DACROCYSTITIS(HP:0000620)	[FGF10(2255), TP63(8626), FGFR3(2261)]
DANDY-WALKER MALFORMATION(HP:0001305)	[FKRP(79147), CD96(10225), LARGE(9215), EVC2(132884), HYLS1(219844), EBP(10682), FKTN(2218), MKS1(54903), DHCR7(1717), BUB1B(701), PLG(5340), NPHP3(27031), POMT1(10585), EVC(2121), POMT2(29954)]
DEAFNESS(HP:0000404)	[SH3TC2(79628), TWIST1(7291), TMPRSS3(64699), EYA4(2070), PRPS1(5631), GRHL2(79977), TGFB1(7040), EDNRB(1910), RDX(5962), TTR(7276), MITF(4286), CDH23(64072), MYH9(4627), FANCD2(2177), UQCRQ(27089), FANCC(2176), FANCE(2178), LHX3(8022), MYO15A(51168), TCIRG1(10312), DIAPH1(1729), UQCRB(7381), GALC(2581), MYO7A(4647), TMC1(117531), ASPA(443), OTOF(9381), TRIOBP(11078), GJB2(2706), POU3F4(5456), MYH14(79784), C10orf2(56652), MARVELD2(153562), MPZ(4359), PTH1R(5745), TNFRSF11A(8792), MANBA(4126), ACTG1(71), WFS1(7466), SQSTM1(8878), NDRG1(10397), BCS1L(617), FGFR2(2263), COL11A2(1302), HGF(3082), KCNQ4(9132), FGF3(2248), DSPP(1834), POLA1(5422), USH1C(10083), TECTA(7007), SLC26A4(5172), PCDH15(65217), OPA1(4976), GNAS(2778), FOXI1(2299), SOST(50964), FANCA(2175), SEMA3E(9723), SUMF1(285362), RUNX2(860), DFNA5(1687), TYR(7299), CHD7(55636)]
DEAFNESS, BILATERAL SENSORINEURAL, HIGH FREQUENCY(HP:0008579)	[MYH9(4627)]
DEAFNESS, PRELINGUAL, PROFOUND (AFFECTS ALL FREQUENCIES)(HP:0001731)	[CDH23(64072), MARVELD2(153562)]
DEAFNESS, SENSORINEURAL, PRELINGUAL, PROFOUND(HP:0000399)	[HGF(3082)]
DEATH IN CHILDHOOD(HP:0003819)	[RAB27A(5873), AGXT(189), DKC1(1736), PRPS1(5631), ABCB11(8647), UBR1(197131), GNPTAB(79158)]
DEATH IN EARLY CHILDHOOD(HP:0003817)	[DKC1(1736), PRPS1(5631)]
DEATH IN INFANCY(HP:0001522)	[AMT(275), DCX(1641), VPS33B(26276), GDF5(8200), PSAP(5660), ITGB4(3691), GLDC(2731), DOLK(22845), GLB1(2720), LAMB3(3914), MYO5B(4645), ALG1(56052), LAMC2(3918), CRTAP(10491), TSEN54(283989), GCSH(2653), TAZ(6901), LAMA3(3909), DLL3(10683), SCO2(9997), LIPA(3988), ANTXR2(118429), ALPL(249), SUOX(6821), ITGA6(3655)]
DEATH IN MAJORITY OF INFANTS SOON AFTER BIRTH(HP:0003824)	[FGFR3(2261)]
DEATH IN NEONATAL PERIOD OR INFANCY(HP:0003827)	[AMT(275), HSPG2(3339), DCX(1641), VPS33B(26276), FGFR3(2261), GDF5(8200), GLI3(2737), FLNB(2317), PSAP(5660), ITGB4(3691), GLE1(2733), GLDC(2731), DSP(1832), FAM20C(56975), DOLK(22845), NSDHL(50814), SLC35D1(23169), GLB1(2720), LAMB3(3914), MYO5B(4645), ALG1(56052), LAMC2(3918), PKHD1(5314), CRTAP(10491), TSEN54(283989), GCSH(2653), ETFDH(2110), ETFB(2109), TAZ(6901), ETFA(2108), LAMA3(3909), LBR(3930), SCO2(9997), DLL3(10683), LIPA(3988), ANTXR2(118429), ALPL(249), SUOX(6821), ITGA6(3655)]
DECELERATION OF HEAD GROWTH(HP:0000241)	[EIF2B2(8892), EIF2B5(8893), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), EIF2B1(1967), MECP2(4204)]
DECIDUOUS MOLARS SHOW ABNORMAL MORPHOLOGY(HP:0006344)	[ADAMTS2(9509)]
DECREASED ACTIVITIES OF MITOCHONDRIAL-ENCODED RESPIRATORY CHAIN COMPLEXES(HP:0008972)	[TK2(7084), DGUOK(1716), MPV17(4358), C10orf2(56652)]
DECREASED ACTIVITY OF MITOCHONDRIAL COMPLEX II(HP:0008314)	[SDHA(6389), SDHAF1(644096)]
DECREASED ACTIVITY OF MITOCHONDRIAL RESPIRATORY COMPLEXES I, II+III, AND IV(HP:0008347)	[TK2(7084), DGUOK(1716), MPV17(4358), TSFM(10102), C10orf2(56652)]
DECREASED ACTIVITY OF NADPH OXIDASE(HP:0003206)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
DECREASED ACTIVITY OF THE PYRUVATE DEHYDROGENASE (PDH) COMPLEX(HP:0002928)	[PDHA1(5160), PDHX(8050), PDP1(54704)]
DECREASED ADENOSYLCOBALAMIN (ADOCBL)(HP:0003145)	[MMAB(326625), MMADHC(27249), MMAA(166785), LMBRD1(55788), MMACHC(25974)]
DECREASED ADIPOSE TISSUE AROUND NECK(HP:0005995)	[ZMPSTE24(10269)]
DECREASED ALDOSTERONE PRODUCTION(HP:0004319)	[AIRE(326), LHX4(89884), SCNN1G(6340), SCNN1B(6338), CYP11B2(1585), PROP1(5626), HSD11B2(3291)]
DECREASED BETA-GALACTOSIDASE ACTIVITY(HP:0008166)	[CTSA(5476), GLB1(2720)]
DECREASED BETA-GALACTOSIDASE ACTIVITY (LEUKOCYTE, FIBROBLAST, PLASMA)(HP:0003644)	[CTSA(5476), GLB1(2720)]
DECREASED BETA-GLUCOCEREBROSIDASE PROTEIN AND ACTIVITY(HP:0003656)	[GBA(2629)]
DECREASED BODY HEIGHT(HP:0004322)	[FBN1(2200), ATRX(546), NPR2(4882), ATR(545), AVPR2(554), H19(283120), DCR(1637), SLC35C1(55343), THRB(7068), HRAS(3265), ADAMTS10(81794), FANCD2(2177), FANCC(2176), CTSA(5476), PPIB(5479), FANCE(2178), UBR1(197131), GNPTAB(79158), GLB1(2720), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), DDR2(4921), SLC6A8(6535), MCPH1(79648), GTF2H5(404672), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), SLC12A1(6557), GHSR(2693), GH1(2688), ATP7A(538), GHR(2690), ZEB2(9839), FGFR1(2260), FGFR3(2261), GDF5(8200), OCRL(4952), FGFR2(2263), FGF23(8074), AAAS(8086), SOS1(6654), SBDS(51119), UROC1(131669), FGD1(2245), KCNJ1(3758), CYP19A1(1588), GDF6(392255), CYP11B1(1584), HPRT1(3251), FOXC2(2303), GNAS(2778), TRIP11(9321), TNFRSF11B(4982), TNNI2(7136), TNNT3(7140), NIPBL(25836), TRPV4(59341), KDM5C(8242), HOXD13(3239), CUL7(9820), GNPTG(84572), SDHAF1(644096), MLYCD(23417), SMPD1(6609), ERCC2(2068), TBX15(6913), ERCC3(2071), GATA1(2623), STRA6(64220), ERCC6(2074), BRAF(673), B4GALT7(11285), MAP2K1(5604), MAP2K2(5605), BUB1B(701), BTK(695), DNMT3B(1789), AGA(175), BCOR(54880), GALNS(2588), DKC1(1736), GNPAT(8443), COL1A2(1278), AGL(178), RECQL4(9401), ACAN(176), COL1A1(1277), RAB3GAP1(22930), BMPR1B(658), GJB6(10804), EXT2(2132), SEPT9(10801), INSR(3643), EXT1(2131), ERCC8(1161), MVK(4598), MED12(9968), RMRP(6023), CA2(760), DHCR7(1717), DGCR(1714), WRN(7486), DYM(54808), WNT7A(7476), EVC(2121), SMARCAL1(50485), SHH(6469), CLCN5(1184), PCNT(5116), VLDLR(7436), FANCA(2175), ROBLD3(28956), ALDOA(226), EIF2AK3(9451), SHOX(6473), ALDH3A2(224), PCCB(5096), GORAB(92344), GBA(2629), ALPL(249), CHST3(9469), PCCA(5095), LEPRE1(64175), GUSB(2990), MYH3(4621), AGPS(8540), SLC6A19(340024), ESCO2(157570), IKBKG(8517), MYH8(4626), MATN3(4148), PAPSS2(9060), IHH(3549), CANT1(124583), SEPN1(57190), PEX7(5191), LRP5(4041), UROS(7390), CREBBP(1387), SIL1(64374), ATP8B1(5205), RAB23(51715), PTH1R(5745), ADAMTS2(9509), TRAPPC2(6399), COMP(1311), HCCS(3052), COL9A3(1299), COL9A2(1298), EVC2(132884), SDHA(6389), NBN(4683), MECP2(4204), COL11A2(1302), COL11A1(1301), LMX1B(4010), SLC26A2(1836), COL5A2(1290), SPG20(23111), CUL4B(8450), COL5A1(1289), PHF6(84295), IGF1(3479), IGBP1(3476), GPC6(10082), IGF1R(3480), COL2A1(1280), FUCA1(2517), COL3A1(1281), PQBP1(10084), TBCE(6905), SLC37A4(2542), VPS13B(157680), SLC39A4(55630), G6PC(2538), TBX1(6899), PORCN(64840), LIFR(3977), RUNX2(860), DLL3(10683), OFD1(8481), AQP2(359), ALMS1(7840), CASP8(841), EP300(2033), ARSB(411), ARSE(415), LARGE(9215), TWIST1(7291), RPS6KA3(6197), FLNA(2316), PLOD2(5352), CTNS(1497), FLNB(2317), IDS(3423), SOX9(6662), SOX2(6657), NF1(4763), NSDHL(50814), SLC35D1(23169), ABCB11(8647), AASS(10157), NEU1(4758), LBR(3930), MBTPS2(51360), CTSK(1513), MGAT2(4247), PLEC(5339), CTDP1(9150), HSPG2(3339), TRPS1(7227), CD96(10225), ATM(472), PTPN11(5781), L1CAM(3897), TRH(7200), ADAMTSL2(9719), PHEX(5251), HYAL1(3373), TP63(8626), KRAS(3845), EFNB1(1947), MMP2(4313), TPM2(7169)]
DECREASED BODY WEIGHT(HP:0004325)	[PRNP(5621), ERCC2(2068), ERCC3(2071), RPS6KA3(6197), MYH3(4621), ERCC6(2074), H19(283120), NPHS1(4868), BUB1B(701), FANCD2(2177), FANCC(2176), TYMP(1890), FANCE(2178), EMG1(10436), UBR1(197131), SEPN1(57190), TSHR(7253), LRP5(4041), NEUROG3(50674), B3GALTL(145173), SLC6A8(6535), ABCC8(6833), MCPH1(79648), GTF2H5(404672), SLC9A6(10479), GJA1(2697), SLC12A1(6557), JPH3(57338), POR(5447), COL1A1(1277), MRPS16(51021), ACTB(60), KCNJ11(3767), WHCR(7467), PDHA1(5160), INSR(3643), WHSC1(7468), RAPSN(5913), FZD4(8322), MECP2(4204), POLG(5428), INS(3630), IGF1(3479), SLC2A2(6514), SBDS(51119), NME1(4830), KCNJ1(3758), IGF1R(3480), VPS13B(157680), GCK(2645), FANCA(2175), SNCA(6622), HADHB(3032), LIPA(3988), IGHMBP2(3508), GBA(2629), DOK7(285489), CUL7(9820), HADHA(3030), SMPD1(6609)]
DECREASED CAVEOLIN-3 EXPRESSION ON MUSCLE BIOPSY(HP:0003735)	[CAV3(859)]
DECREASED CENTRAL VISION(HP:0007663)	[PROM1(8842)]
DECREASED CERVICAL SPINE FLEXION DUE TO CONTRACTURES OF POSTERIOR CERVICAL MUSCLES(HP:0004631)	[LMNA(4000), EMD(2010)]
DECREASED CERVICAL SPINE MOBILITY(HP:0004637)	[WISP3(8838)]
DECREASED COAGULATION FACTORS IX, XI, XII(HP:0005514)	[MGAT2(4247)]
DECREASED COMPLEX III ACTIVITY IN LIVER TISSUE(HP:0006558)	[UQCRB(7381), UQCRQ(27089), BCS1L(617)]
DECREASED CORNEAL REFLEX(HP:0008000)	[IKBKAP(8518)]
DECREASED CORTISOL PRODUCTION(HP:0004317)	[STAR(6770), AAAS(8086), CYP11A1(1583), NR0B1(190), LHX4(89884), CYP21A2(1589), PCSK1(5122), CYP17A1(1586), GLI3(2737), PROP1(5626), CYP11B1(1584)]
DECREASED CSF HOMOVANILLIC ACID (HVA)(HP:0003785)	[TH(7054), DDC(1644), PNPO(55163)]
DECREASED DEEP TENDON REFLEXES(HP:0002467)	[PEX2(5828), LYST(1130), PEX1(5189), PEX26(55670)]
DECREASED DISTAL TOUCH SENSE(HP:0006981)	[SETX(23064)]
DECREASED DISTAL VIBRATION SENSE(HP:0006886)	[SETX(23064)]
DECREASED ELECTRORETINOGRAM (ERG)(HP:0000654)	[ACOX1(51), FKRP(79147), PPT1(5538), ALG3(10195), POMGNT1(55624), BEST1(7439), GUCY2D(3000), LARGE(9215), RPE65(6121), MCOLN1(57192)]
DECREASED ENAMEL MINERALISATION(HP:0006359)	[ENAM(10117)]
DECREASED FACIAL EXPRESSION(HP:0004673)	[PRNP(5621), TH(7054), UCHL1(7345), TBP(6908), MYH3(4621), MAPT(4137), CC2D1A(54862), DBH(1621), DCTN1(1639), ATP13A2(23400)]
DECREASED FERTILITY(HP:0000144)	[BSCL2(26580), PTPN11(5781), GOPC(57120), LHB(3972), CFTR(1080), SPATA16(83893), DNAI1(27019), AURKC(6795), AGPAT2(10555), HSD17B3(3293), AR(367), CTNS(1497)]
DECREASED FERTILITY IN FEMALES(HP:0000868)	[FOXL2(668), BSCL2(26580), PGR(5241), AGPAT2(10555), BLM(641)]
DECREASED FETAL ACTIVITY(HP:0001559)	[WHCR(7467), WHSC1(7468), FGFR3(2261), ZMPSTE24(10269)]
DECREASED FETAL MOVEMENT(HP:0001558)	[MYCN(4613), ERBB3(2065), PLOD1(5351), WHCR(7467), RYR1(6261), DMPK(1760), WHSC1(7468), RAPSN(5913), FGFR3(2261), MUSK(4593), TSFM(10102), ZMPSTE24(10269), MTM1(4534), COL6A1(1291), DHCR7(1717), COL6A2(1292), COL6A3(1293), NEB(4703), CHRNA1(1134), SMN1(6606), IGHMBP2(3508), CHRNG(1146), GBA(2629), CHRNE(1145), CHRND(1144), GBE1(2632), ACTA1(58), CHRNB1(1140)]
DECREASED FETAL MOVEMENTS MAY OCCUR(HP:0007631)	[COL6A1(1291), COL6A2(1292), COL6A3(1293)]
DECREASED FUMARATE HYDRATASE ACTIVITY(HP:0003536)	[FH(2271)]
DECREASED HDL CHOLESTEROL(HP:0003233)	[LCAT(3931), PPP1R3A(5506), PPARG(5468), LMNA(4000), ALMS1(7840), SMPD1(6609)]
DECREASED HEMOGLOBIN(HP:0003136)	[PGK1(5230), ADAMTS13(11093), PKLR(5313), CFH(3075)]
DECREASED HIP ABDUCTION(HP:0003184)	[TPM2(7169), CHST3(9469), TNNT1(7138)]
DECREASED IGA(HP:0002720)	[TCN2(6948), CD40(958), CD40LG(959), PMM2(5373), BLM(641)]
DECREASED IGE(HP:0005479)	[CD40(958), CD40LG(959)]
DECREASED IGG LEVEL(HP:0004315)	[CD40(958), CD40LG(959), ERCC2(2068), SH2D1A(4068), ATM(472), ERCC3(2071), TNFRSF13B(23495), HBG1(3047), CIITA(4261), RAG2(5897), RAG1(5896), BTK(695), PMM2(5373), TCN2(6948), DCLRE1C(64421), SP110(3431), RFXANK(8625), IL2RG(3561), RFX5(5993), PCCB(5096), GTF2H5(404672), RFXAP(5994), CXCR4(7852), ICOS(29851), PCCA(5095)]
DECREASED IGM(HP:0002850)	[TCN2(6948), ROBLD3(28956)]
DECREASED IGM LEVEL(HP:0003147)	[WAS(7454), TNFRSF13B(23495), ICOS(29851)]
DECREASED LACRIMATION(HP:0000633)	[ERCC8(1161), ERCC6(2074)]
DECREASED LIVER FUNCTION(HP:0001410)	[SLC25A15(10166), ARSA(410), SH2D1A(4068), ACAD9(28976), BCS1L(617), POLG(5428), NHLRC1(378884), NDUFAF2(91942), MTM1(4534), MPI(4351), FAH(2184), DGUOK(1716), GALT(2592), NDUFA1(4694), NPC1(4864), UQCRQ(27089), EPM2A(7957), UQCRB(7381), FECH(2235), NDUFAF3(25915), COX6B1(1340), PCK1(5105), AKR1D1(6718), NDUFA11(126328), NDUFAF4(29078), PCK2(5106), NDUFS1(4719), C10orf2(56652), NDUFV1(4723), HADHB(3032), NDUFS2(4720), HADH(3033), NDUFS6(4726), C20orf7(79133), GFM1(85476), GBA(2629), MPV17(4358), NDUFS4(4724), FASTKD2(22868), GBE1(2632), ATP7B(540)]
DECREASED LIVER FUNCTION, PROGRESSIVE(HP:0006570)	[GALT(2592)]
DECREASED MEAN PLATELET VOLUME(HP:0005537)	[WAS(7454)]
DECREASED METHIONINE SYNTHASE (MTR, 156570) ACTIVITY(HP:0003524)	[MMADHC(27249), MTRR(4552), MTR(4548), LMBRD1(55788), MMACHC(25974)]
DECREASED METHYLCOBALAMIN (MECBL)(HP:0003223)	[MMADHC(27249), MTRR(4552), MTR(4548), LMBRD1(55788), MMACHC(25974)]
DECREASED METHYLMALONYL-COA MUTASE ACTIVITY(HP:0003210)	[MMAB(326625), MMADHC(27249), MMAA(166785), MMACHC(25974)]
DECREASED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003402)	[CHRNA1(1134), CHAT(1103), CHRNE(1145), CHRND(1144)]
DECREASED MOBILITY OF JOINTS(HP:0001376)	[FBN1(2200), TRAPPC2(6399), NPR2(4882), CLCF1(23529), ERCC8(1161), FGFR3(2261), NSD1(64324), FGFR2(2263), ERCC6(2074), MMP13(4322), NIPBL(25836), SUMF1(285362), FLNA(2316), LMX1B(4010), SLC26A2(1836), RMRP(6023), MATN3(4148), CRLF1(9244), GPC6(10082), CHST3(9469), RECQL4(9401), COL2A1(1280), CBS(875), ATP7A(538)]
DECREASED MOTOR AND SENSORY NERVE CONDUCTION VELOCITIES(HP:0007118)	[SLC12A6(9990)]
DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003431)	[SH3TC2(79628), CTDP1(9150), NEFL(4747), SETX(23064), MTMR2(8898), GJC2(57165), FGD4(121512), GJB1(2705), PRX(57716), EGR2(1959), MPZ(4359), LITAF(9516), GDAP1(54332), PMP22(5376)]
DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV) (LESS THAN 38 M/S)(HP:0000760)	[SH3TC2(79628), EGR2(1959), MPZ(4359), LITAF(9516), NEFL(4747), GDAP1(54332), PMP22(5376), FGD4(121512)]
DECREASED MUSCLE MASS(HP:0003199)	[FBN1(2200), COLQ(8292), PANK2(80025), CHRNE(1145), G6PC(2538), RAPSN(5913), CHRNB1(1140), HSD17B4(3295), SMS(6611), MUSK(4593)]
DECREASED MYENTERIC AND SUBMUCOSAL GANGLIA IN THE BOWEL(HP:0002596)	[SOX10(6663), EDNRB(1910)]
DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762)	[CTDP1(9150), ARSA(410), SH3TC2(79628), SLC25A15(10166), ERCC3(2071), SACS(26278), NEFL(4747), NDRG1(10397), ERCC8(1161), SETX(23064), GJC2(57165), HSD17B4(3295), ERCC6(2074), PSAP(5660), EGR2(1959), SOX10(6663), ATXN10(25814), FAM126A(84668), GDAP1(54332), MATR3(9782), GALC(2581), LYST(1130), MTMR2(8898), FGD4(121512), GJB1(2705), PRX(57716), WNK1(65125), IGHMBP2(3508), ARHGEF10(9639), MPZ(4359), LITAF(9516), PMP22(5376)]
DECREASED NUMBER OF CD4+ T CELLS(HP:0005407)	[CD40LG(959), CASP8(841), IL2RG(3561)]
DECREASED NUMBER OF CD8+ T CELLS(HP:0005415)	[RAG2(5897), ATM(472), RAG1(5896), IL2RG(3561)]
DECREASED NUMBER OF LARGE AND SMALL MYELINATED FIBERS(HP:0007320)	[SBF2(81846)]
DECREASED NUMBER OF MYELINATED FIBERS(HP:0003380)	[SBF2(81846), SH3TC2(79628), MFN2(9927), LMNA(4000), KIF1B(23095), NTRK1(4914), NEFL(4747), SACS(26278), SETX(23064), FGD4(121512), GJB1(2705), PRX(57716), WNK1(65125), EGR2(1959), IKBKAP(8518), MPZ(4359), HSPB8(26353), RAB7A(7879), GDAP1(54332), APTX(54840), DNM2(1785), PMP22(5376), SPTLC1(10558)]
DECREASED NUMBER OF MYELINATED FIBERS MAY BE FOUND(HP:0003385)	[MFN2(9927), LMNA(4000), KIF1B(23095), RAB7A(7879)]
DECREASED NUMBER OF STERNAL OSSIFICATION CENTERS(HP:0006611)	[GJA1(2697)]
DECREASED NUMBER OF SWEAT PORES(HP:0007500)	[TP63(8626)]
DECREASED NUMBERS OF GLOMERULI(HP:0005563)	[HNF1B(6928)]
DECREASED OR ABSENT ANKLE REFLEXES(HP:0007032)	[ATXN3(4287), DYSF(8291)]
DECREASED OR ABSENT DISTAL SENSORY NERVE ACTION POTENTIAL(HP:0007230)	[TRPV4(59341)]
DECREASED OR ABSENT ELECTRORETINOGRAM(HP:0007636)	[FKRP(79147), POMGNT1(55624)]
DECREASED OR ABSENT SENSORY NERVE ACTION POTENTIALS(HP:0007078)	[HSPB8(26353)]
DECREASED PAIN SENSATION(HP:0007328)	[NTRK1(4914)]
DECREASED PLASMA CARNITINE(HP:0003234)	[ACADM(34), ACADL(33), ACADVL(37), CPT2(1376)]
DECREASED PLASMA TOTAL AND FREE CARNITINE(HP:0008315)	[CPT2(1376)]
DECREASED PULMONARY FUNCTION(HP:0005952)	[PLOD1(5351), SLC34A2(10568)]
DECREASED PURINE LEVELS(HP:0004369)	[GPHN(10243), SLC22A12(116085), SLC2A2(6514), PRPS1(5631), MOCS2(4338), MOCS1(4337)]
DECREASED RENAL TUBULAR PHOSPHATE EXCRETION(HP:0005572)	[KL(9365), GALNT3(2591), FGF23(8074)]
DECREASED RENAL TUBULAR PHOSPHATE REABSORPTION(HP:0000117)	[CLCN5(1184), PHEX(5251), SLC34A3(142680), FGF23(8074)]
DECREASED RENIN(HP:0003351)	[SCNN1G(6340), SCNN1B(6338), CYP11B1(1584)]
DECREASED RETINAL PIGMENTATION WITH DISPERSION(HP:0007659)	[TRIM37(4591)]
DECREASED SENSITIVITY TO HYPOXEMIA(HP:0005947)	[IKBKAP(8518)]
DECREASED SENSORY NERVE CONDUCTION VELOCITIES (NCV)(HP:0003448)	[WNK1(65125), SACS(26278), SPTLC1(10558)]
DECREASED SERUM ACTH(HP:0002920)	[PDE11A(50940), PRKAR1A(5573)]
DECREASED SERUM ALDOSTERONE(HP:0002924)	[CYP11B2(1585), CYP11B1(1584)]
DECREASED SERUM COMPLEMENT C3(HP:0005421)	[LMNB2(84823), CFH(3075), CFI(3426)]
DECREASED SERUM COMPLEMENT FACTOR B(HP:0005416)	[CFH(3075), CFI(3426)]
DECREASED SERUM COMPLEMENT FACTOR H(HP:0005369)	[CFH(3075), CFI(3426)]
DECREASED SERUM COMPLEMENT FACTOR I(HP:0005356)	[CFI(3426)]
DECREASED SERUM ESTRADIOL(HP:0008214)	[CTDP1(9150)]
DECREASED SERUM IGG(HP:0008340)	[B2M(567), CNBP(7555)]
DECREASED SERUM LEPTIN(HP:0003292)	[BSCL2(26580), AGPAT2(10555)]
DECREASED SERUM METHIONINE(HP:0003658)	[MMADHC(27249), MTR(4548), MMACHC(25974)]
DECREASED SERUM PROGESTERONE(HP:0008233)	[EIF2B2(8892), EIF2B5(8893), EIF2B4(8890), EIF2B3(8891), EIF2B1(1967)]
DECREASED SKULL OSSIFICATION(HP:0004331)	[LBR(3930), TBCE(6905), TRIP11(9321), CRTAP(10491), ALPL(249), COL1A1(1277), ZMPSTE24(10269), LEPRE1(64175)]
DECREASED SMALL MYELINATED NERVE FIBERS(HP:0007249)	[NTRK1(4914)]
DECREASED SPONTANEOUS MOVEMENTS(HP:0002603)	[GFM1(85476), GBA(2629), MRPS16(51021), MTM1(4534)]
DECREASED SPONTANEOUS MOVEMENTS AT BIRTH(HP:0006795)	[GBA(2629)]
DECREASED SUBCUTANEOUS FAT(HP:0001002)	[FBN1(2200), PPP1R3A(5506), LMNB2(84823), GTF2H5(404672), PPARG(5468), FH(2271), LMNA(4000), ERCC2(2068), ERCC3(2071), SLC2A2(6514), ZMPSTE24(10269), TGFB1(7040)]
DECREASED SWEATING DUE TO AUTONOMIC DYSFUNCTION(HP:0007480)	[LMNB1(4001)]
DECREASED T CELL ACTIVATION(HP:0005419)	[CD40LG(959), CASP8(841)]
DECREASED TASTE SENSATION(HP:0000224)	[WNK1(65125), IKBKAP(8518)]
DECREASED TESTICULAR SIZE(HP:0008734)	[HSPG2(3339), MKKS(8195), ATRX(546), BBS5(129880), TRIM32(22954), PROK2(60675), FGFR1(2260), NELF(26012), ARL6(84100), TAC3(6866), CEP290(80184), BBS12(166379), DNAJC19(131118), TACR3(6870), GLI3(2737), CUL4B(8450), BBS9(27241), TTC8(123016), PHGDH(26227), PQBP1(10084), CYP11B1(1584), LHCGR(3973), SLC39A4(55630), F13A1(2162), BBS1(582), BBS2(583), BBS4(585), DKC1(1736), DCAF17(80067), BBS10(79738), MKS1(54903), KISS1R(84634), KDM5C(8242), BBS7(55212), CUL7(9820), CHD7(55636)]
DECREASED TESTOSTERONE IN MALES(HP:0008230)	[SLC39A4(55630)]
DECREASED URINARY SULFATE AND URATE(HP:0003359)	[GPHN(10243), MOCS2(4338), MOCS1(4337)]
DECREASED VIBRATION SENSE AT ANKLES(HP:0006938)	[PRKCG(5582)]
DECREASED VIBRATORY SENSE IN THE LOWER LIMBS(HP:0002166)	[BSCL2(26580), NIPA1(123606), SPG11(80208), KIF5A(3798), SACS(26278), PRKCG(5582), HSPD1(3329), CYP7B1(9420), SPG7(6687), KIAA0196(9897), SPAST(6683)]
DEEP PALMAR CREASES(HP:0006191)	[HRAS(3265)]
DEEP PHILTRUM(HP:0002002)	[MED12(9968), MGP(4256)]
DEEP PLANTAR CREASES(HP:0001869)	[EP300(2033), CD96(10225), HRAS(3265), CREBBP(1387)]
DEEP POSTERIOR INTERPEDUNCULAR FOSSA(HP:0002420)	[TMEM67(91147), TMEM216(51259), AHI1(54806), INPP5E(56623)]
DEEP SET EYES(HP:0000490)	[FBN1(2200), EP300(2033), TBCE(6905), ZEB2(9839), OPHN1(4983), MYH3(4621), ANCR(282), MECP2(4204), ERCC6(2074), PHF6(84295), CDKL5(6792), NDP(4693), CREBBP(1387), AGL(178), UBE3A(7337), JAG1(182)]
DEEP VENOUS THROMBOSIS(HP:0002625)	[SERPINC1(462), SERPIND1(3053), PROC(5624), PROS1(5627)]
DEEP WHITE MATTER HYPODENSITIES(HP:0007321)	[TREX1(11277)]
DEFECTIVE B CELL ACTIVATION(HP:0005384)	[CASP8(841)]
DEFECTIVE B CELL DIFFERENTIATION(HP:0005357)	[ATM(472)]
DEFECTIVE DEHYDROGENATION OF ISOVALERYL COA AND BUTYRYL COA(HP:0003490)	[ETFDH(2110), ETFB(2109), ETFA(2108)]
DEFECTIVE DNA REPAIR AFTER ULTRAVIOLET RADIATION DAMAGE(HP:0003079)	[DDB2(1643), ERCC2(2068), ERCC5(2073), ERCC4(2072), XPC(7508), ERCC6(2074), XPA(7507)]
DEFECTIVE LYMPHOCYTE APOPTOSIS(HP:0002731)	[FAS(355), CASP10(843)]
DEFECTIVE, IRREGULAR TARSAL OSSIFICATION(HP:0008134)	[EIF2AK3(9451)]
DEFICIENCY OF N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE(HP:0003264)	[GNPTAB(79158)]
DEFICIENCY OF SPEECH DEVELOPMENT(HP:0002116)	[TH(7054), PGK1(5230), MKKS(8195), AUH(549), BBS5(129880), TRIM32(22954), ZEB2(9839), ST3GAL5(8869), ARL6(84100), FGFR1(2260), NSD1(64324), PRPS1(5631), MECP2(4204), CEP290(80184), BBS12(166379), PRPS2(5634), CUL4B(8450), THRB(7068), DGCR(1714), SLC2A1(6513), CLN8(2055), IGF1R(3480), PAK3(5063), BBS9(27241), TTC8(123016), ACADS(35), AGA(175), MFSD8(256471), BBS1(582), SMCR(6600), OPHN1(4983), BBS2(583), TBX1(6899), TSHR(7253), BBS4(585), ALDH7A1(501), PTEN(5728), SLC6A8(6535), BBS10(79738), MKS1(54903), TPP1(1200), ARX(170302), BBS7(55212), SLC17A5(26503), RAI1(10743), HSD17B10(3028)]
DEFICIENCY OR ABSENCE OF CYTOCHROME B(-245)(HP:0003514)	[CYBA(1535), CYBB(1536)]
DEFICIENT EXCISION OF UV-INDUCED PYRIMIDINE DIMERS IN DNA(HP:0003213)	[FANCD2(2177), FANCA(2175), FANCC(2176), FANCE(2178)]
DEFICIENT N-ACETYLGLUCOSAMINYLTRANSFERASE II(HP:0003655)	[CDAN1(146059), SEC23B(10483)]
DEFORMED RADIUS(HP:0003977)	[TBX3(6926)]
DEFORMED RIB CAGE(HP:0000886)	[CYP27B1(1594), SLC34A3(142680), VDR(7421), CYP2R1(120227)]
DEFORMED SELLA TURCICA(HP:0002681)	[PTCH1(5727), DYM(54808)]
DEFORMED TARSAL BONES(HP:0008119)	[GDF5(8200)]
DEGENERATION OF ANTERIOR HORN CELLS(HP:0002398)	[SMN1(6606), UBA1(7317), IGHMBP2(3508), SETX(23064), VRK1(7443)]
DEGENERATION OF INTERVERTEBRAL DISKS(HP:0008419)	[HGD(3081)]
DEGENERATION OF THE LATERAL CORTICOSPINAL TRACTS(HP:0002314)	[NIPA1(123606), ATL1(51062), SPG11(80208), SPG7(6687), KIAA0196(9897), PLP1(5354), SPAST(6683)]
DEGENERATIVE JOINT DISEASE(HP:0001379)	[F9(2158), F8(2157)]
DEGENERATIVE VITREORETINOPATHY(HP:0007964)	[ERBB3(2065)]
DEHYDRATION(HP:0001944)	[MYO5B(4645), MMAB(326625), ACAT1(38), MMAA(166785), SPINK5(11005), PKHD1(5314), CLCNKB(1188), LCT(3938), NEUROG3(50674), AVPR2(554), MUT(4594), PCCB(5096), AQP2(359), CFTR(1080), NR0B1(190), IVD(3712), SLC12A1(6557), MCEE(84693), KCNJ1(3758), ZFP57(346171), CYP11B2(1585), TNDM(7952), PCCA(5095), SLC5A1(6523)]
DELAYED CLOSURE OF FONTANELLES(HP:0000270)	[EP300(2033), TWIST1(7291), LMNA(4000), RPS6KA3(6197), HSD17B4(3295), FGFR2(2263), H19(283120), FLNA(2316), ZMPSTE24(10269), GLI3(2737), MED12(9968), SH3PXD2B(285590), TBCE(6905), ASPA(443), CRTAP(10491), SEC23A(10484), CHST14(113189), ROR2(4920), RUNX2(860), MMP2(4313), FAM123B(139285), CREBBP(1387), CTSK(1513), ATP7A(538), ADAMTS2(9509), LEPRE1(64175)]
DELAYED CLOSURE OF THE ANTERIOR FONTANELLE(HP:0001476)	[MED12(9968), TBCE(6905), ASPA(443), FAM123B(139285), MMP2(4313), RPS6KA3(6197), SEC23A(10484), CTSK(1513), FLNA(2316), RUNX2(860), ATP7A(538), ADAMTS2(9509)]
DELAYED COGNITIVE DEVELOPMENT(HP:0006867)	[SLC6A19(340024)]
DELAYED DENTITION(HP:0000684)	[TRPS1(7227), ZEB2(9839), ERCC8(1161), FGFR1(2260), CCBE1(147372), FGFR3(2261), EVC2(132884), VDR(7421), ERCC6(2074), FGFR2(2263), FLNA(2316), IDS(3423), IKBKG(8517), FGF10(2255), APC(324), CYP27B1(1594), MAPK10(5602), KCNJ2(3759), EVC(2121), GNAS(2778), BCOR(54880), SEC23A(10484), PORCN(64840), ROR2(4920), NIPBL(25836), RUNX2(860), MMP2(4313), CHST3(9469), RECQL4(9401), PTH1R(5745), CTSK(1513)]
DELAYED DEVELOPMENTAL MILESTONES(HP:0002473)	[SNAP29(9342), ATRX(546), GJC2(57165), CRBN(51185)]
DELAYED ERUPTION OF DECIDUOUS TEETH(HP:0000680)	[FGF10(2255), ERCC8(1161), FGFR3(2261), ERCC6(2074), CTSK(1513), RUNX2(860)]
DELAYED ERUPTION OF SECONDARY TEETH(HP:0000696)	[KCNJ2(3759), PTH1R(5745), CTSK(1513), ROR2(4920), RUNX2(860)]
DELAYED FEMORAL HEAD OSSIFICATION(HP:0008829)	[DYM(54808)]
DELAYED GROSS MOTOR DEVELOPMENT(HP:0002194)	[TK2(7084), GALE(2582), NPHP1(4867), FGF3(2248), DLAT(1737), COL1A2(1278), CHST3(9469), TNNT1(7138), PTEN(5728), COL1A1(1277), PAK3(5063)]
DELAYED LOSS OF DECIDUOUS TEETH(HP:0006335)	[TNFSF11(8600), BCOR(54880), KCNJ2(3759), PTH1R(5745), RAB23(51715), CTSK(1513), FLNA(2316)]
DELAYED MATURATION/DELAYED OSSIFICATION OF CARPAL BONES(HP:0001216)	[TRPV4(59341), RMRP(6023), MATN3(4148), HOXA13(3209), IHH(3549)]
DELAYED MINERALIZATION OF PUBIC BONE(HP:0008795)	[RUNX2(860)]
DELAYED MOTOR MILESTONES(HP:0002130)	[FKRP(79147), VPS13B(157680), ANCR(282), MECP2(4204), COL6A1(1291), CDKL5(6792), COL6A2(1292), COL6A3(1293), PTCH1(5727), SLC12A6(9990), COL2A1(1280), UBE3A(7337), ADAMTS2(9509), PCDH15(65217)]
DELAYED MOTOR SKILLS(HP:0008973)	[TK2(7084)]
DELAYED MYELINATION(HP:0002188)	[CD96(10225), PEX7(5191), D2HGDH(728294), ACY1(95), UPB1(51733), MUT(4594)]
DELAYED OXIDATION OF ACETALDEHYDE(HP:0003533)	[ALDH1A1(216), ALDH2(217)]
DELAYED PUBERTY(HP:0000823)	[GLA(2717), SLC37A4(2542), VPS13B(157680), ATM(472), G6PC(2538), TBX3(6926), SEMA3E(9723), ALDOA(226), TGFB1(7040), CTNS(1497), PTPN11(5781), CUL4B(8450), PHF6(84295), NR0B1(190), SLC17A3(10786), FGD1(2245), PUS1(80324), CHD7(55636)]
DELAYED PUBIC BONE OSSIFICATION(HP:0008788)	[COL2A1(1280)]
DELAYED RELAXATION OF MUSCLE FIBERS AFTER CONTRACTION(HP:0003754)	[CLCN1(1180)]
DELAYED SKELETAL MATURATION(HP:0002750)	[PEX19(5824), EP300(2033), ATRX(546), PEX5(5830), RPS6KA3(6197), ATR(545), CCBE1(147372), HSD17B4(3295), H19(283120), BRAF(673), CTNS(1497), FLNB(2317), MAP2K1(5604), MAP2K2(5605), SLC7A7(9056), BTK(695), UBR1(197131), AGA(175), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), ROR2(4920), CREBBP(1387), ACAN(176), GH1(2688), GHR(2690), HSPG2(3339), TRPS1(7227), WHCR(7467), CD96(10225), INSR(3643), WHSC1(7468), LHX4(89884), GDF5(8200), MMP13(4322), IGF1(3479), SBDS(51119), KCNJ2(3759), IGF1R(3480), TRH(7200), PEX26(55670), TBCE(6905), PCNT(5116), PEX3(8504), KRAS(3845), NIPBL(25836), TRPV4(59341), CUL7(9820), CHST3(9469), PAX8(7849)]
DELAYED SPEECH ACQUISITION(HP:0002498)	[ATP6AP2(10159), BTK(695)]
DELAYED TARSAL OSSIFICATION(HP:0008103)	[MATN3(4148), HOXA13(3209)]
DELUSIONS(HP:0000746)	[ARSA(410), PRNP(5621), DISC2(27184), PPP2R2B(5521), EIF2B2(8892), SNCA(6622), EIF2B5(8893), SNCB(6620), CYP27A1(1593), EIF2B4(8890), JPH3(57338), EIF2B3(8891), EIF2B1(1967)]
DEMENTIA(HP:0000726)	[PRNP(5621), VCP(7415), AMN(81693), MAPT(4137), SPAST(6683), CP(1356), LRRK2(120892), TTR(7276), NPC2(10577), ATXN3(4287), CUBN(8029), NPC1(4864), ATXN2(6311), VPS13A(23230), IRF6(3664), JPH3(57338), ATP7B(540), DBH(1621), UCHL1(7345), APP(351), ERCC8(1161), POLG(5428), NHLRC1(378884), HTT(3064), PINK1(65018), PSEN1(5663), ATXN10(25814), NDP(4693), CYP27A1(1593), TREM2(54209), HEXA(3073), EPM2A(7957), ITM2B(9445), CHMP2B(25978), ATN1(1822), PPP2R2B(5521), TBP(6908), TIMM8A(1678), ATP13A2(23400), MMACHC(25974), CST3(1471), GM2A(2760), SNCA(6622), CLN3(1201), PANK2(80025), GRN(2896), SNCB(6620), GBA(2629), TYROBP(7305), APTX(54840), NOTCH3(4854)]
DEMENTIA, PRESENILE, PROGRESSIVE, BEGINNING AROUND AGE 30 YEARS(HP:0007150)	[TREM2(54209), TYROBP(7305)]
DEMENTIA, PROGRESSIVE(HP:0002274)	[PRNP(5621), ATN1(1822), SNCA(6622), CP(1356), SNCB(6620), PANK2(80025), PSEN1(5663), TREM2(54209), APP(351), TYROBP(7305), NOTCH3(4854)]
DEMENTIA, PROGRESSIVE, WITH ONSET OF DISEASE(HP:0007283)	[APP(351)]
DEMENTIA, RAPIDLY PROGRESSIVE(HP:0007122)	[PRNP(5621)]
DEMYELINATING MOTOR NEUROPATHY(HP:0007220)	[GJC2(57165)]
DEMYELINATING PERIPHERAL NEUROPATHY(HP:0007108)	[SOX10(6663), GJC2(57165), MANBA(4126)]
DEMYELINATING PERIPHERAL NEUROPATHY, PROGRESSIVE(HP:0007205)	[MANBA(4126)]
DEMYELINATION(HP:0003381)	[SH3TC2(79628), ARSA(410), NEFL(4747), ERCC6(2074), MAT1A(4143), COX15(1355), DNM2(1785), GALC(2581), SBF2(81846), ASPA(443), LRPPRC(10128), FGD4(121512), DLD(1738), SURF1(6834), L2HGDH(79944), PRX(57716), MPZ(4359), ARHGEF10(9639), LITAF(9516), NDUFS7(374291), CTDP1(9150), PDHA1(5160), LMNB1(4001), NDRG1(10397), ERCC8(1161), SDHA(6389), BCS1L(617), PSAP(5660), EIF2B2(8892), EIF2B5(8893), EGR2(1959), EIF2B4(8890), NDUFA2(4695), TREM2(54209), EIF2B3(8891), GDAP1(54332), EIF2B1(1967), GFAP(2670), C8orf38(137682), ATN1(1822), ALDH3A2(224), NDUFS3(4722), NDUFV1(4723), NDUFS4(4724), TYROBP(7305), NDUFS8(4728), PMP22(5376), MTTP(4547), GCDH(2639)]
DEMYELINATION IN CENTRAL WHITE MATTER(HP:0007222)	[ALDH3A2(224)]
DEMYELINATION, SYMMETRIC(HP:0007262)	[LMNB1(4001)]
DENERVATION OF THE DIAPHRAGM(HP:0009109)	[IGHMBP2(3508)]
DENSE CALVARIA(HP:0000250)	[SGSH(6448), HGSNAT(138050), NAGLU(4669)]
DENSE, POSTERIOR CORTICAL CATARACT(HP:0007948)	[OCRL(4952)]
DENTAL DECAY DUE TO RECURRENT BACTERIAL PERIODONTITIS(HP:0006301)	[AP3B1(8546)]
DENTAL ENAMEL PITS(HP:0009722)	[TSC1(7248), TSC2(7249)]
DENTAL MALOCCLUSION(HP:0000689)	[FBN1(2200), FRAS1(80144), TRPS1(7227), GPC3(2719), SOST(50964), BCOR(54880), RPS6KA3(6197), RAPSN(5913), ERCC8(1161), PORCN(64840), LRP5(4041), FGFR2(2263), ERCC6(2074), MUSK(4593), FLNA(2316), PTPN11(5781), ENAM(10117), CA2(760), FAM123B(139285), GJA1(2697), CHRNE(1145), SH3PXD2B(285590), FREM2(341640), CHRNB1(1140)]
DENTAL OVERCROWDING(HP:0000678)	[FBN1(2200), MKKS(8195), PLOD1(5351), EP300(2033), TRPS1(7227), LMNA(4000), BBS5(129880), TRIM32(22954), ATR(545), FGFR1(2260), ARL6(84100), FGFR2(2263), CEP290(80184), BBS12(166379), ZMPSTE24(10269), MED12(9968), TRIM37(4591), DHCR7(1717), FREM2(341640), CBS(875), BBS9(27241), TTC8(123016), FRAS1(80144), BBS1(582), BBS2(583), BBS4(585), ROR2(4920), BBS10(79738), MKS1(54903), BBS7(55212), CREBBP(1387)]
DENTINOGENESIS IMPERFECTA(HP:0000703)	[DSPP(1834), ZNF469(84627), PPIB(5479), COL1A1(1277)]
DEPIGMENTATION/HYPERPIGMENTATION(HP:0007483)	[PTEN(5728)]
DEPIGMENTED FUNDUS(HP:0007680)	[GPR143(4935)]
DEPLETION OF COMPONENTS OF THE ALTERNATIVE COMPLEMENT PATHWAY(HP:0005389)	[CFH(3075)]
DEPLETION OF MITOCHONDRIAL DNA IN MUSCLE TISSUE(HP:0009141)	[TK2(7084), SLC25A4(291), TYMP(1890), POLG(5428), C10orf2(56652)]
DEPOSITS IMMUNOREACTIVE TO BETA-AMYLOID PROTEIN(HP:0003791)	[GNE(10020)]
DEPRESSED NASAL ROOT AND BRIDGE(HP:0005280)	[EDA(1896)]
DEPRESSION(HP:0000716)	[ATP1A3(478), PRNP(5621), UCHL1(7345), CPOX(1371), MAPT(4137), BCS1L(617), POLG(5428), DCTN1(1639), FGF14(2259), SPAST(6683), HTT(3064), PINK1(65018), PPT1(5538), PDE11A(50940), ATXN10(25814), HMBS(3145), UQCRQ(27089), FMO3(2328), CFH(3075), UQCRB(7381), PPP2R2B(5521), SGCE(8910), TBP(6908), DRD2(1813), C10orf2(56652), PANK2(80025), PRKAR1A(5573), WAS(7454), GBA(2629), JPH3(57338), PRKCG(5582), WNT10A(80326), DBH(1621)]
DERANGEMENTS OF FACIAL EXPRESSION(HP:0005324)	[NLGN4X(57502)]
DERMAL ATROPHY(HP:0004334)	[DDB2(1643), TINF2(26277), LMNA(4000), ERCC2(2068), ERCC3(2071), ERCC6(2074), POLH(5429), ZMPSTE24(10269), B4GALT7(11285), COL5A2(1290), FERMT1(55612), ITGB4(3691), COL5A1(1289), COL7A1(1294), COL3A1(1281), LAMB3(3914), LAMC2(3918), TERC(7012), TERT(7015), TP63(8626), DKC1(1736), PORCN(64840), TFAP2A(7020), LAMA3(3909), GJA1(2697), COL1A2(1278), RECQL4(9401), XPC(7508), COL1A1(1277), XPA(7507), ITGA6(3655)]
DERMAL TRANSLUCENCY(HP:0010648)	[TGFBR1(7046)]
DERMATAN AND HEPARAN SULFATE EXCRETION IN URINE(HP:0003541)	[IDS(3423), ARSB(411), GUSB(2990)]
DERMATAN SULFATE EXCRETION IN URINE(HP:0008301)	[ARSB(411)]
DERMATITIS, INFECTIOUS, DUE TO IMMUNODEFICIENCY IMPETIGO(HP:0000983)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
DERMATOLOGICAL MANIFESTATIONS OF SYSTEMIC DISORDERS(HP:0001005)	[PEX19(5824), ABCD3(5825), PEX2(5828), CPOX(1371), VPS33B(26276), PEX5(5830), CLDN1(9076), PROC(5624), SCN2A(6326), ANK1(286), PROS1(5627), IKBKAP(8518), HRAS(3265), NPC2(10577), THPO(7066), NPC1(4864), TREX1(11277), ENG(2022), ABCC2(1244), ABCB11(8647), SPTB(6710), PPARG(5468), SPTA1(6708), GALE(2582), GPI(2821), LYST(1130), PEX10(5192), PKLR(5313), PEX14(5195), PEX13(5194), PEX1(5189), AKR1D1(6718), PTEN(5728), CYBA(1535), CYB5A(1528), RHAG(6005), GALK1(2584), ETFDH(2110), ETFB(2109), ETFA(2108), C10orf2(56652), BPGM(669), PFKM(5213), MPL(4352), GJA1(2697), MPV17(4358), AGXT(189), ATP8B1(5205), HK1(3098), INSR(3643), LMNA(4000), SDHD(6392), SDHC(6391), HBB(3043), FGFR2(2263), PRKAG2(51422), AMACR(23600), NCF2(4688), DGUOK(1716), LPL(4023), ALDH1A1(216), NCF1(653361), ALDH2(217), CYB5R3(1727), ACVRL1(94), SLC4A1(6521), PEX26(55670), BSCL2(26580), C1R(715), G6PD(2539), ALDOB(229), PEX3(8504), CYBB(1536), ALDOA(226), VHL(7428), PPP1R3A(5506), JAK2(3717), HBA1(3039), TPI1(7167), ALMS1(7840), CDAN1(146059), AGPAT2(10555), UGT1A1(54658), SMPD1(6609), C5(727), TGFA(7039)]
DESCENDING AORTIC ANEURYSM(HP:0004954)	[TGFBR1(7046)]
DESQUAMATION OF SKIN SOON AFTER BIRTH(HP:0007549)	[GBA(2629)]
DETACHED RETINA(HP:0000541)	[FBN1(2200), PLOD1(5351), FKRP(79147), PAX6(5080), BEST1(7439), LARGE(9215), VCAN(1462), LRP2(4036), FZD4(8322), LRP5(4041), COL11A1(1301), COL18A1(80781), RS1(6247), IKBKG(8517), FKTN(2218), NDP(4693), COL4A1(1282), COL2A1(1280), POMT1(10585), POMT2(29954)]
DEVELOPMENTAL ARREST(HP:0007281)	[NUP62(23636), GLB1(2720)]
DEVELOPMENTAL ARREST, 2ND YEAR OF LIFE(HP:0007198)	[GLB1(2720)]
DEVELOPMENTAL DELAY IN EARLY CHILDHOOD(HP:0007005)	[MLYCD(23417)]
DEVELOPMENTAL REGRESSION(HP:0002376)	[EIF2B2(8892), GALC(2581), EIF2B5(8893), CLN5(1203), PCDH19(57526), TPP1(1200), EIF2B4(8890), EIF2B3(8891), CLN8(2055), ST3GAL5(8869), EIF2B1(1967), NUP62(23636)]
DEVELOPMENTAL REGRESSION AFTER AGE 2 YEARS(HP:0006828)	[TPP1(1200)]
DEVELOPMENTAL RETARDATION(HP:0001263)	[FBN1(2200), RET(5979), PGK1(5230), FKRP(79147), CPS1(1373), ATRX(546), MMADHC(27249), MMAA(166785), SPINK5(11005), BBS5(129880), DDC(1644), TGFBR1(7046), NSD1(64324), GJC2(57165), CRBN(51185), H19(283120), DPM1(8813), MCCC1(56922), EDNRB(1910), ESCO2(157570), NPC1(4864), GNE(10020), GNPTAB(79158), BBS9(27241), GLB1(2720), UQCRB(7381), ACADM(34), ACADS(35), MYO5A(4644), NKX2-1(7080), NTRK1(4914), ACADSB(36), RAB39B(116442), LRP2(4036), PEX1(5189), ROR2(4920), NUP62(23636), SLC6A8(6535), PEPD(5184), MCOLN1(57192), DDR2(4921), ABCC8(6833), SCO2(9997), FKTN(2218), SLC9A6(10479), C20orf7(79133), SLC17A5(26503), SLC12A1(6557), SLC12A6(9990), NAGA(4668), SUOX(6821), ACTB(60), KCNJ11(3767), MKKS(8195), SNRPN(6638), PDHA1(5160), FH(2271), GPR56(9289), FGFR3(2261), FGFR2(2263), BCS1L(617), MECP2(4204), BBS12(166379), POLG(5428), PDP1(54704), PSAP(5660), AAAS(8086), SOS1(6654), NDN(4692), SBDS(51119), NDUFA1(4694), NLGN4X(57502), KCNJ1(3758), PEX26(55670), TTC8(123016), COX6B1(1340), BBS1(582), BBS2(583), BBS4(585), ARG1(383), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), BBS10(79738), NDUFV1(4723), PCDH19(57526), NDUFS2(4720), SNAP29(9342), BBS7(55212), NDUFS6(4726), IVD(3712), NDUFS4(4724), FASTKD2(22868), ALMS1(7840), TPI1(7167), DPAGT1(1798), MLYCD(23417), TUBB2B(347733), PLA2G6(8398), BTD(686), PEX2(5828), ARSE(415), LARGE(9215), TRIM32(22954), ARL6(84100), PRPS1(5631), PLP1(5354), NDUFAF2(91942), OTC(5009), MID1(4281), SOX10(6663), BUB1B(701), TMEM67(91147), MTHFR(4524), NPC2(10577), FAM126A(84668), TREX1(11277), GAMT(2593), UQCRQ(27089), HLCS(3141), POMT1(10585), GALE(2582), NDUFAF3(25915), LRPPRC(10128), ASS1(445), D2HGDH(728294), ASL(435), MKS1(54903), PDHX(8050), LAMP2(3920), ETHE1(23474), GAD1(2571), POMT2(29954), CTDP1(9150), CD96(10225), INSR(3643), B4GALT1(2683), ST3GAL5(8869), MVK(4598), CEP290(80184), LMBRD1(55788), MUT(4594), INS(3630), DHCR24(1718), MED12(9968), PTPN11(5781), PPT1(5538), SLC2A1(6513), SLC2A2(6514), CYB5R3(1727), ADAMTSL2(9719), GCH1(2643), MMAB(326625), GCK(2645), PCNT(5116), TSEN54(283989), EFNB1(1947), SUMF1(285362), MMACHC(25974), EIF2AK3(9451), MTR(4548), PC(5091), MNX1(3110), LEPRE1(64175)]
DEVELOPMENTAL STAGNATION AT ONSET OF SEIZURES(HP:0006834)	[ST3GAL5(8869)]
DEVIATED FINGERS(HP:0004097)	[FBN2(2201), EP300(2033), ATRX(546), TWIST1(7291), BBS5(129880), TRIM32(22954), TBX15(6913), ATR(545), ARL6(84100), NSD1(64324), H19(283120), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), ESCO2(157570), NOG(9241), ALX3(257), CRLF1(9244), IHH(3549), EMG1(10436), UBR1(197131), NKX2-5(1482), BBS9(27241), BMP4(652), B3GALTL(145173), ROR2(4920), BLM(641), ABCC8(6833), MKS1(54903), GJA1(2697), CREBBP(1387), RAB23(51715), PTH1R(5745), JAG1(182), MGAT2(4247), BMPR1B(658), KCNJ11(3767), MKKS(8195), SNRPN(6638), CD96(10225), FGFR3(2261), GDF5(8200), FGFR2(2263), CEP290(80184), BBS12(166379), LMX1B(4010), INS(3630), PTPN11(5781), MED12(9968), FGF10(2255), GDF1(2657), DHCR7(1717), NDN(4692), IGF1(3479), HOXA11(3207), KCNJ2(3759), HOXA13(3209), FGD1(2245), IGF1R(3480), WNT7A(7476), EVC(2121), PQBP1(10084), TTC8(123016), ACVR1(90), ALG3(10195), GCK(2645), CLCF1(23529), PCNT(5116), BBS1(582), SOST(50964), BBS2(583), BBS4(585), KRAS(3845), TFAP2B(7021), NIPBL(25836), EFNB1(1947), TFAP2A(7020), LIFR(3977), TRPV4(59341), BBS10(79738), ZFPM2(23414), OFD1(8481), FAM123B(139285), BBS7(55212), CUL7(9820), DPAGT1(1798), CHST3(9469)]
DEVIATED NASAL SEPTUM(HP:0004411)	[EP300(2033), CREBBP(1387)]
DEVIATION OF THE 2ND FINGER(HP:0009468)	[GDF5(8200), IHH(3549), BMPR1B(658), FLNA(2316)]
DEVIATION OF THE 3RD FINGER(HP:0009317)	[GDF5(8200), IHH(3549)]
DEVIATION OF THE 4TH FINGER(HP:0009273)	[IHH(3549)]
DEVIATION OF THE 5TH FINGER(HP:0009179)	[EP300(2033), TWIST1(7291), TBX15(6913), ATR(545), GDF5(8200), FGFR2(2263), H19(283120), LMX1B(4010), FLNB(2317), GDF1(2657), HOXA11(3207), KCNJ2(3759), HOXA13(3209), EMG1(10436), IHH(3549), UBR1(197131), EVC(2121), NKX2-5(1482), PQBP1(10084), ACVR1(90), PCNT(5116), B3GALTL(145173), TFAP2B(7021), BLM(641), TFAP2A(7020), EFNB1(1947), NIPBL(25836), ZFPM2(23414), GJA1(2697), FAM123B(139285), CREBBP(1387), DPAGT1(1798), CHST3(9469), JAG1(182), BMPR1B(658)]
DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0009484)	[FBN2(2201), ATRX(546), BBS5(129880), ATR(545), SALL4(57167), MYH3(4621), NSD1(64324), H19(283120), ESCO2(157570), NOG(9241), ALX3(257), CRLF1(9244), EMG1(10436), IHH(3549), UBR1(197131), BBS9(27241), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), B3GALTL(145173), ROR2(4920), ABCC8(6833), GJA1(2697), CREBBP(1387), PTH1R(5745), RAB23(51715), KCNJ11(3767), MKKS(8195), SNRPN(6638), RAPSN(5913), FGFR3(2261), GDF5(8200), FGFR2(2263), BBS12(166379), LMX1B(4010), FGF10(2255), NDN(4692), IGF1(3479), HOXA11(3207), FGD1(2245), HOXA13(3209), KCNJ2(3759), IGF1R(3480), TTC8(123016), PEX26(55670), PQBP1(10084), ACVR1(90), BBS1(582), BBS2(583), TNNI2(7136), BBS4(585), PEX3(8504), TNNT3(7140), NIPBL(25836), LIFR(3977), TRPV4(59341), BBS10(79738), ZFPM2(23414), OFD1(8481), BBS7(55212), FAM123B(139285), DOK7(285489), CUL7(9820), DPAGT1(1798), PEX19(5824), EP300(2033), TWIST1(7291), TBX15(6913), TRIM32(22954), PEX5(5830), ARL6(84100), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), NKX2-5(1482), BMP4(652), BLM(641), MKS1(54903), LBR(3930), JAG1(182), BMPR1B(658), MGAT2(4247), CD96(10225), CEP290(80184), PAX3(5077), INS(3630), MED12(9968), PTPN11(5781), DHCR7(1717), GDF1(2657), WNT7A(7476), EVC(2121), ALG3(10195), GCK(2645), PCNT(5116), CLCF1(23529), SOST(50964), KRAS(3845), TFAP2B(7021), EFNB1(1947), TFAP2A(7020), TPM2(7169), CHST3(9469)]
DEVIATION/DISPLACEMENT OF THE HALLUX(HP:0010051)	[TWIST1(7291), TP63(8626), HOXA13(3209), FGFR2(2263), SLC16A2(6567), ACVR1(90)]
DEVIATION/DISPLACEMENT OF THE THUMB(HP:0009603)	[NOG(9241), DHCR7(1717), HOXA13(3209), B3GALTL(145173), TFAP2A(7020), NIPBL(25836), MGAT2(4247)]
DEXTROCARDIA(HP:0001651)	[DNAI1(27019), ZIC3(7547), CRELD1(78987), NODAL(4838)]
DIABETES INSIPIDUS(HP:0000873)	[AVP(551), MKKS(8195), WFS1(7466), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), TP63(8626), ARL6(84100), BBS4(585), CEP290(80184), BBS12(166379), BBS10(79738), MKS1(54903), AQP2(359), BBS7(55212), ALMS1(7840), BBS9(27241), TTC8(123016)]
DIABETES MELLITUS(HP:0000819)	[SLC19A2(10560), BBS5(129880), TRIM32(22954), ARL6(84100), HNF1A(6927), PRPS1(5631), CTNS(1497), FOXP3(50943), CP(1356), HNF1B(6928), UBR1(197131), BBS9(27241), PPARG(5468), AIP(9049), NEUROG3(50674), BLM(641), DCAF17(80067), ABCC8(6833), MKS1(54903), SPINK1(6690), HNF4A(3172), PDX1(3651), KCNJ11(3767), PRSS1(5644), MKKS(8195), WFS1(7466), INSR(3643), LMNA(4000), ATM(472), APOA5(116519), CEP290(80184), BBS12(166379), PAX4(5078), ZMPSTE24(10269), PRPS2(5634), AIRE(326), INS(3630), WRN(7486), FXN(2395), AKT2(208), HFE(3077), TTC8(123016), TNDM(7952), BSCL2(26580), CNBP(7555), GCK(2645), PCNT(5116), BBS1(582), BBS2(583), BBS4(585), EIF2AK3(9451), PPP1R3A(5506), BBS10(79738), BBS7(55212), ALMS1(7840), AGPAT2(10555), ZFP57(346171)]
DIABETIC KETOACIDOSIS(HP:0008253)	[INSR(3643)]
DIABETIC KETOSIS(HP:0001953)	[INSR(3643)]
DIAMINOACIDURIA(HP:0008339)	[ARG1(383)]
DIAPHORESIS(HP:0001064)	[PRNP(5621), LMNB1(4001), IGHMBP2(3508), ATP2A2(488), CLCF1(23529), SDHD(6392), SDHC(6391), SDHB(6390)]
DIAPHORESIS (WITH PHEOCHROMOCYTOMA)(HP:0001011)	[SDHD(6392), SDHC(6391)]
DIAPHRAGMATIC EVENTRATION(HP:0009110)	[IGHMBP2(3508), CHRNG(1146), LRP2(4036), STRA6(64220), MTM1(4534)]
DIAPHRAGMATIC HERNIA(HP:0000776)	[LAMB1(3912), GPC3(2719), HCCS(3052), FBLN5(10516), CHRNG(1146), EFEMP2(30008), LRP2(4036), PORCN(64840), LOX(4015), STRA6(64220), WT1(7490), NIPBL(25836)]
DIAPHRAGMATIC PARALYSIS(HP:0006597)	[IGHMBP2(3508), GAA(2548)]
DIAPHRAGMATIC WEAKNESS(HP:0009113)	[IGHMBP2(3508)]
DIAPHYSEAL BOWING OF LONG BONES(HP:0005908)	[LBR(3930), ANO5(203859)]
DIAPHYSEAL CORTICAL SCLEROSIS(HP:0005045)	[ANO5(203859)]
DIAPHYSEAL SCLEROSIS(HP:0003034)	[TNFSF11(8600), CA2(760), TBXAS1(6916), ANO5(203859), TGFB1(7040)]
DIAPHYSEAL THICKENING(HP:0005019)	[LBR(3930)]
DIARRHEA(HP:0002014)	[CPT1A(1374), RET(5979), BTD(686), CD40LG(959), CPOX(1371), DDC(1644), CIITA(4261), IDS(3423), SGSH(6448), ITGB4(3691), IKBKAP(8518), SLC7A7(9056), TTR(7276), HMBS(3145), GALT(2592), SLC46A1(113235), BTK(695), SMAD4(4089), TYMP(1890), PMM2(5373), ABCB11(8647), DNMT3B(1789), TCN2(6948), MYO5B(4645), AGA(175), AKR1D1(6718), CD247(919), NEUROG3(50674), IL2RG(3561), RFX5(5993), RFXAP(5994), SLC12A1(6557), ATP8B1(5205), NAGLU(4669), ETHE1(23474), ICOS(29851), BMPR1A(657), ITGA6(3655), ATP7A(538), TREH(11181), TNFRSF13B(23495), NBN(4683), MVK(4598), POLG(5428), AIRE(326), MPI(4351), GNS(2799), SPINT2(10653), RAG2(5897), NME1(4830), RAG1(5896), KCNJ1(3758), HEXB(3074), MEN1(4221), CFH(3075), SLC5A1(6523), TMPRSS15(5651), ADA(100), HGSNAT(138050), ALG3(10195), SLC39A4(55630), G6PC(2538), DCLRE1C(64421), PHKB(5257), MCM6(4175), SI(6476), RFXANK(8625), PCSK1(5122), SLC26A3(1811), SERPING1(710), DES(1674), LIPA(3988), WAS(7454), ANTXR2(118429), IGKC(3514), CASP8(841), MLYCD(23417), C5(727)]
DIASTASIS RECTI(HP:0001540)	[KCNQ1OT1(10984), GPC3(2719), PORCN(64840), NSD1(64324), B3GALTL(145173), CDKN1C(1028), H19(283120), GNPTAB(79158)]
DIASTEMA(HP:0000699)	[NHS(4810), KDM5C(8242), ALX3(257), ATRX(546)]
DICARBOXYLIC ACIDURIA(HP:0003215)	[ACADM(34), HADHB(3032), HADH(3033), ACADL(33), ACAD9(28976), ACADVL(37), CPT2(1376)]
DIFFICULTY CLIMBING STAIRS(HP:0003551)	[VCP(7415), PLEKHG5(57449), FKRP(79147), LMNA(4000), DYSF(8291), TCAP(8557), POMT1(10585), FLNC(2318), VMA21(203547)]
DIFFICULTY IN TONGUE MOVEMENTS(HP:0000183)	[FRAS1(80144), ALS2(57679), FREM2(341640)]
DIFFICULTY STANDING(HP:0003698)	[CYP27B1(1594), SLC34A3(142680), VDR(7421), CYP2R1(120227)]
DIFFICULTY WALKING(HP:0002355)	[SBF2(81846), VCP(7415), SH3TC2(79628), PLEKHG5(57449), FKRP(79147), NKX2-1(7080), LMNA(4000), SETX(23064), WISP3(8838), VDR(7421), CAPN3(825), CYP2R1(120227), SPG20(23111), CYP27B1(1594), SLC34A3(142680), TCAP(8557), POMT1(10585)]
DIFFICULTY WALKING AND CLIMBING STAIRS(HP:0007019)	[PLEKHG5(57449), POMT1(10585)]
DIFFICULTY WALKING IN CHILDHOOD(HP:0007101)	[NKX2-1(7080)]
DIFFICULTY WALKING, RUNNING(HP:0009030)	[TCAP(8557), POMT1(10585)]
DIFFICULTY WALKING, RUNNING, CLIMBING STAIRS(HP:0009046)	[POMT1(10585)]
DIFFUSE AXONAL SWELLING(HP:0003405)	[SETX(23064)]
DIFFUSE BRAIN ATROPHY(HP:0002283)	[PRNP(5621), PSAP(5660), GALC(2581), BTD(686), PANK2(80025), GFM1(85476), TBP(6908), ST3GAL5(8869), HSD17B4(3295), L2HGDH(79944)]
DIFFUSE CEREBELLAR ATROPHY(HP:0006928)	[BTD(686)]
DIFFUSE CEREBRAL ATROPHY(HP:0002506)	[GALC(2581), BTD(686), TBP(6908)]
DIFFUSE DEMYELINATION(HP:0006881)	[NDUFV1(4723), GFAP(2670)]
DIFFUSE LEIOMYOMATOSIS(HP:0006756)	[COL4A6(1288), COL4A5(1287)]
DIFFUSE MESANGIAL SCLEROSIS(HP:0001967)	[PLCE1(51196), ADA(100), LAMB2(3913), WT1(7490)]
DIFFUSE MESANGIAL SCLEROSIS GLOMERULOPATHY(HP:0004728)	[WT1(7490)]
DIFFUSE MUSCLE ATROPHY(HP:0009074)	[TIMM8A(1678), LAMP2(3920)]
DIFFUSE RETICULAR OR FINELY NODULAR INFILTRATIONS(HP:0002207)	[SMPD1(6609)]
DIFFUSE SKIN ATROPHY(HP:0007488)	[FERMT1(55612)]
DIFFUSE SPONGIFORM LEUKOENCEPHALOPATHY(HP:0006943)	[MLC1(23209)]
DIFFUSE SWELLING OF CEREBRAL WHITE MATTER(HP:0007341)	[MLC1(23209)]
DIFFUSE TELANGIECTASES(HP:0007489)	[PEPD(5184)]
DIFFUSELY THICKENED SKIN(HP:0007393)	[MMP2(4313)]
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY(HP:0003654)	[DPYD(1806), DPYS(1807)]
DILATATION OF THE ASCENDING AORTA(HP:0005111)	[FBN1(2200), MED12(9968), COL5A2(1290), FBN2(2201), COL5A1(1289), FBLN5(10516), EFEMP2(30008), TGFBR1(7046), LOX(4015), COL1A1(1277)]
DILATATION OF THE DESCENDING THORACIC AORTA(HP:0004959)	[TGFBR1(7046)]
DILATED CARDIOMYOPATHY(HP:0001644)	[ERBB3(2065), SCN5A(6331), FKRP(79147), JUP(3728), LMNA(4000), ACAD9(28976), TNNT2(7139), POLG(5428), TAZ(6901), DNAJC19(131118), C10orf2(56652), FKTN(2218), HADHB(3032), HADH(3033), MYH7(4625), TTN(7273), ALMS1(7840), DOLK(22845), LAMP2(3920), TCAP(8557), DMD(1756), CPT2(1376), HADHA(3030), GLB1(2720)]
DILATED CARDIOMYOPATHY MAY BE PRESENT(HP:0005159)	[FKRP(79147)]
DILATION OF LATERAL VENTRICLES(HP:0006956)	[GCDH(2639)]
DIMINISHED JOINT MOBILITY AT ELBOWS, KNEES, AND HIPS(HP:0005030)	[COL2A1(1280)]
DIMINISHED MOVEMENT(HP:0002374)	[TH(7054), PEX19(5824), ARSA(410), ERBB3(2065), PGK1(5230), P2RY12(64805), FBP1(2203), AUH(549), PEX5(5830), DDC(1644), MAPT(4137), MCCC1(56922), NPC2(10577), NPC1(4864), COQ2(27235), TYMP(1890), TK2(7084), ACADS(35), ASPA(443), PEX10(5192), PEX14(5195), PEX13(5194), MRPS22(56945), PEX1(5189), DLAT(1737), CYBA(1535), C10orf2(56652), SLC25A4(291), GFM1(85476), MPV17(4358), GNPAT(8443), ALDH5A1(7915), PDHX(8050), MRPS16(51021), LAMP2(3920), MBD5(55777), PDHA1(5160), POLG(5428), LMBRD1(55788), TSFM(10102), PDP1(54704), NCF2(4688), PSAP(5660), PDSS2(57107), PPT1(5538), DGUOK(1716), LPL(4023), NCF1(653361), PDSS1(23590), ACY1(95), PEX26(55670), PHGDH(26227), COQ9(57017), GNAS(2778), ALG1(56052), COX6B1(1340), PHKA1(5255), ROBLD3(28956), PEX3(8504), CYBB(1536), ATP13A2(23400), BCHE(590), VWF(7450), HADHB(3032), HADH(3033), PANK2(80025), GBA(2629), PDE8B(8622), FASTKD2(22868), APTX(54840), HADHA(3030), TPMT(7172), HSD17B10(3028), CABC1(56997)]
DIPLOPIA(HP:0000651)	[PRNP(5621), ATP1A2(477), ATXN3(4287), RAPSN(5913), MAPT(4137), TGFB1(7040)]
DIRECT COOMBS POSITIVE(HP:0003539)	[FAS(355), CASP10(843)]
DISCOID LUPUS ERYTHEMATOSUS(HP:0007417)	[NCF2(4688), C1R(715), NCF1(653361), CYBA(1535), CYBB(1536), C5(727)]
DISCOID LUPUS IN CARRIERS OR ADULTS WITH MILD DISEASE(HP:0000981)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
DISCOLORED LATERAL INCISORS(HP:0006290)	[SHH(6469)]
DISCONJUGATE EYE MOVEMENTS(HP:0000549)	[DGUOK(1716), MPV17(4358), SLC16A2(6567), C10orf2(56652)]
DISCRETE 2 TO 5-MM HYPER- AND HYPOPIGMENTED MACULES(HP:0007494)	[KRT5(3852)]
DISHARMONIC MATURATION OF PHALANGES AND CARPAL BONES(HP:0006204)	[NSD1(64324)]
DISHARMONIOUS CARPAL BONE(HP:0006153)	[GPC3(2719), NSD1(64324), FGFR2(2263)]
DISINHIBITION(HP:0000734)	[CHMP2B(25978), PSEN1(5663), GRN(2896), VPS13A(23230), TREM2(54209), TYROBP(7305), MAPT(4137), SPAST(6683)]
DISLOCATED HIPS(HP:0002827)	[HSPG2(3339), MKKS(8195), WHCR(7467), RYR1(6261), CD96(10225), WHSC1(7468), ATR(545), MYH3(4621), GLRB(2743), OCRL(4952), GDF5(8200), GLRA1(2741), FLNA(2316), GLI3(2737), EYA1(2138), FLNB(2317), COL6A1(1291), GPHN(10243), SOX9(6662), HOXA11(3207), COL6A2(1292), MYH8(4626), COL6A3(1293), NSDHL(50814), COL2A1(1280), WNT7A(7476), GNPTAB(79158), LAMB1(3912), PORCN(64840), DDR2(4921), EIF2AK3(9451), OFD1(8481), ATP6V0A2(23545), GJA1(2697), CHRNG(1146), TPM2(7169), COL1A2(1278), ACTA1(58), SLC6A5(9152), ZNF469(84627), COL1A1(1277)]
DISLOCATED RADIAL HEAD(HP:0003083)	[FBN1(2200), NOG(9241), CD96(10225), CHRNG(1146), TBX15(6913), ATR(545), GPC6(10082), NIPBL(25836), FLNA(2316), GLI3(2737)]
DISLOCATION OF PATELLA(HP:0002999)	[EBP(10682), EP300(2033), FBN2(2201), TBX4(9496), CREBBP(1387), LMX1B(4010)]
DISLOCATIONS OF THE KNEES(HP:0004976)	[FLNB(2317)]
DISLOCATIONS OF THE WRISTS(HP:0004992)	[FLNB(2317)]
DISORGANIZATION OF THE ANTERIOR CEREBELLAR VERMIS(HP:0007065)	[OPHN1(4983)]
DISPROPORTIONATE PROMINENCE OF THE FEMORAL MEDIAL CONDYLE(HP:0006437)	[LMX1B(4010)]
DISPROPORTIONATE SHORT STATURE (SHORT TRUNK), IDENTIFIABLE IN CHILDHOOD(HP:0003522)	[TRPV4(59341)]
DISPROPORTIONATE SHORT-LIMB DWARFISM(HP:0008928)	[B3GALTL(145173)]
DISPROPORTIONATE SHORTENING OF 2ND AND 3RD FINGERS(HP:0006017)	[GDF5(8200)]
DISPROPORTIONATELY LONG FIBULAE(HP:0003085)	[DDR2(4921)]
DISPROPORTIONATELY SHORT MIDDLE PHALANGES(HP:0006110)	[EIF2AK3(9451)]
DISPROPORTIONATELY SMALL CEREBRAL CORTEX(HP:0006791)	[MCPH1(79648)]
DISPROPORTIONATELY TALL VERTEBRAL BODIES(HP:0005693)	[CUL7(9820), FGFR3(2261)]
DISSECTING AORTIC ANEURYSM(HP:0002622)	[MYH11(4629)]
DISSEMINATED INTRAVASCULAR COAGULATION(HP:0005521)	[SERPIND1(3053)]
DISTAL AMYOTROPHY(HP:0003693)	[VCP(7415), ZFYVE26(23503), MYOT(9499), LMNA(4000), NEFL(4747), SACS(26278), NDRG1(10397), SETX(23064), CCT5(22948), GAN(8139), PRPS1(5631), POLG(5428), GARS(2617), MED25(81857), SPG20(23111), EGR2(1959), SOX10(6663), ATXN3(4287), HSPB8(26353), ALS2(57679), RAB7A(7879), TYMP(1890), GNE(10020), GDAP1(54332), DNM2(1785), ATXN2(6311), SBF2(81846), BSCL2(26580), PLEKHG5(57449), YARS(8565), MFN2(9927), KIF1B(23095), HSPB1(3315), MTMR2(8898), PRX(57716), TRPV4(59341), MPZ(4359), MMP2(4313), LITAF(9516), AGL(178), APTX(54840), TCAP(8557), TPM3(7170), PMP22(5376), ATP7A(538)]
DISTAL ARTHROGRYPOSIS(HP:0005684)	[CHST14(113189)]
DISTAL FEMORAL BOWING(HP:0005096)	[GDF5(8200)]
DISTAL INTESTINAL OBSTRUCTION SYNDROME(HP:0002610)	[CFTR(1080)]
DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934)	[LMNA(4000), NEFL(4747), NDRG1(10397), CCT5(22948), GAN(8139), PRPS1(5631), GARS(2617), MED25(81857), EGR2(1959), HSPB8(26353), RAB7A(7879), GDAP1(54332), DNM2(1785), BSCL2(26580), SBF2(81846), YARS(8565), MFN2(9927), HSPB1(3315), KIF1B(23095), MTMR2(8898), GJB1(2705), PRX(57716), TRPV4(59341), MPZ(4359), LITAF(9516), PMP22(5376)]
DISTAL LIMB MUSCLE WEAKNESS(HP:0003497)	[SH3TC2(79628), LMNA(4000), NEFL(4747), NDRG1(10397), GAN(8139), PRPS1(5631), POLG(5428), GARS(2617), MED25(81857), EGR2(1959), SOX10(6663), HSPB8(26353), RAB7A(7879), GDAP1(54332), TYMP(1890), DNM2(1785), NEB(4703), SBF2(81846), BSCL2(26580), YARS(8565), MFN2(9927), KIF1B(23095), HSPB1(3315), MTMR2(8898), FGD4(121512), GJB1(2705), PABPN1(8106), PRX(57716), TRPV4(59341), MPZ(4359), LITAF(9516), NAGA(4668), PMP22(5376), SPTLC1(10558)]
DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935)	[SH3TC2(79628), LMNA(4000), NEFL(4747), NDRG1(10397), GAN(8139), PRPS1(5631), GARS(2617), MED25(81857), EGR2(1959), SOX10(6663), HSPB8(26353), RAB7A(7879), GDAP1(54332), DNM2(1785), BSCL2(26580), SBF2(81846), YARS(8565), MFN2(9927), HSPB1(3315), KIF1B(23095), MTMR2(8898), FGD4(121512), GJB1(2705), PRX(57716), TRPV4(59341), MPZ(4359), LITAF(9516), PMP22(5376), SPTLC1(10558)]
DISTAL LIMB MUSCLE WEAKNESS OCCURS LATER(HP:0003728)	[NEB(4703)]
DISTAL LOWER LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0003442)	[SH3TC2(79628), FGD4(121512)]
DISTAL LOWER LIMB MUSCLE WEAKNESS AND ATROPHY(HP:0008944)	[LMNA(4000)]
DISTAL LOWER LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0003485)	[SH3TC2(79628), FGD4(121512)]
DISTAL MUSCLE WEAKNESS(HP:0002460)	[PRNP(5621), ZFYVE26(23503), MYOT(9499), ATL1(51062), LMNA(4000), TRIM32(22954), SACS(26278), SETX(23064), HSPD1(3329), SPG7(6687), CYP7B1(9420), KIAA0196(9897), POLG(5428), PLP1(5354), DCTN1(1639), MYF6(4618), SPAST(6683), CRYAB(1410), SPG20(23111), SOX10(6663), HSPB8(26353), NF1(4763), TTN(7273), GNE(10020), MATR3(9782), DNM2(1785), NEB(4703), BSCL2(26580), PLEKHG5(57449), NIPA1(123606), SPG11(80208), HSPB1(3315), KIF5A(3798), DYSF(8291), PHKA1(5255), DES(1674), TRPV4(59341), IGHMBP2(3508), TPM3(7170), TCAP(8557), ATP7A(538), LDB3(11155)]
DISTAL MUSCLE WEAKNESS AND ATROPHY(HP:0006940)	[TRPV4(59341), PLEKHG5(57449), IGHMBP2(3508)]
DISTAL MUSCLE WEAKNESS IN LOWER LIMBS, SEVERE(HP:0009035)	[TCAP(8557)]
DISTAL MUSCLE WEAKNESS OCCURS LATER(HP:0003810)	[MYOT(9499)]
DISTAL MUSCLE WEAKNESS, MILD(HP:0009008)	[TTN(7273)]
DISTAL SENSATION LOSS(HP:0006843)	[SACS(26278), CCT5(22948)]
DISTAL SENSORY IMPAIRMENT(HP:0002936)	[SH3TC2(79628), LMNA(4000), SACS(26278), NEFL(4747), NDRG1(10397), CCT5(22948), GAN(8139), PRPS1(5631), POLG(5428), GARS(2617), MED25(81857), EGR2(1959), SOX10(6663), HSPB8(26353), RAB7A(7879), GDAP1(54332), TYMP(1890), DNM2(1785), SBF2(81846), YARS(8565), MFN2(9927), KIF1B(23095), HSPB1(3315), MTMR2(8898), FGD4(121512), GJB1(2705), PRX(57716), C10orf2(56652), TRPV4(59341), MPZ(4359), LITAF(9516), APTX(54840), NAGA(4668), PMP22(5376)]
DISTAL SENSORY IMPAIRMENT OF ALL MODALITIES(HP:0003409)	[MFN2(9927), CCT5(22948), NAGA(4668), SPTLC1(10558)]
DISTAL SENSORY LOSS OF ALL MODALITIES(HP:0006984)	[CCT5(22948), SPTLC1(10558)]
DISTAL SENSORY LOSS OF PROPRIOCEPTION AND VIBRATION SENSE(HP:0006858)	[POLG(5428), C10orf2(56652)]
DISTAL SHORTENING OF LIMBS(HP:0006402)	[GLI3(2737)]
DISTAL SYMPHALANGISM(HP:0001204)	[NOG(9241), GDF5(8200), IHH(3549), TFAP2B(7021)]
DISTAL TAPERING OF METATARSALS(HP:0008133)	[MMP2(4313)]
DISTAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION(HP:0005040)	[NTRK1(4914), CCT5(22948), NGF(4803)]
DISTAL URETHRAL DUPLICATION(HP:0008706)	[GLI3(2737)]
DISTICHIASIS(HP:0009743)	[FOXC2(2303), PUS1(80324)]
DISTURBED VISUAL AND BRAINSTEM AUDITORY EVOKED RESPONSES INDICATIVE OF CNS DEMYELINATION(HP:0003151)	[NDRG1(10397), ERCC8(1161), MYH3(4621), ERCC6(2074)]
DOLICHOCEPHALY(HP:0000268)	[FBN1(2200), ARSB(411), FBN2(2201), ABCD3(5825), SNRPN(6638), PEX2(5828), ATRX(546), TWIST1(7291), PEX5(5830), NSD1(64324), MVK(4598), BRAF(673), MAP2K1(5604), MAP2K2(5605), TRIM37(4591), NDN(4692), DYM(54808), PEX26(55670), PEX10(5192), PEX13(5194), RAB39B(116442), PEX1(5189), KRAS(3845), BLM(641), TFAP2A(7020), DLX3(1747), CUL7(9820), ALPL(249)]
DOLICHOSTENOMELIA(HP:0001519)	[MED12(9968), RET(5979), FBN2(2201), PLOD1(5351), TGFBR1(7046), COL2A1(1280), ZNF469(84627)]
DOLICHOTURRICEPHALY(HP:0001356)	[ABCD3(5825), PEX2(5828)]
DORSAL COLUMN AND SPINOCEREBELLAR TRACT DEGENERATION(HP:0007006)	[ATXN1(6310)]
DORSAL SUBLUXATION OF ULNA(HP:0006459)	[SHOX(6473)]
DOUBLE OUTLET RIGHT VENTRICLE(HP:0001719)	[GDF1(2657), NKX2-6(137814), TBX1(6899), SEMA3E(9723), CHD7(55636), CFC1(55997)]
DOWNTURNED CORNERS OF MOUTH(HP:0002714)	[INS(3630), KCNJ11(3767), WHCR(7467), GCK(2645), WHSC1(7468), CHRNG(1146), NIPBL(25836), ABCC8(6833)]
DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)	[FBN1(2200), RET(5979), EP300(2033), RPS6KA3(6197), ATR(545), PHOX2B(8929), MYH3(4621), NSD1(64324), EDN3(1908), DPM1(8813), BRAF(673), FLNA(2316), GLI3(2737), MAP2K1(5604), MAP2K2(5605), HRAS(3265), MAPK10(5602), SC5DL(6309), TCOF1(6949), GPC3(2719), LRP2(4036), PTEN(5728), ROR2(4920), RAB3GAP2(25782), ASCL1(429), GJA1(2697), CHRNG(1146), CREBBP(1387), RECQL4(9401), KIAA1279(26128), ADAMTS2(9509), ZEB2(9839), FGFR1(2260), FGFR3(2261), MVK(4598), FGFR2(2263), MED12(9968), BDNF(627), PTPN11(5781), DHCR24(1718), FGF10(2255), SOS1(6654), CECR(1055), IGBP1(3476), FGD1(2245), GDNF(2668), VPS13B(157680), TNNI2(7136), CHST14(113189), KRAS(3845), TNNT3(7140), EFNB1(1947), SEMA3E(9723), EBP(10682), OFD1(8481), SNAP29(9342), ATP6V0A2(23545), TPM2(7169), CHD7(55636)]
DROOLING(HP:0002307)	[ATP1A3(478), SPG20(23111), SLC9A6(10479), ATRX(546), VPS13A(23230), ZEB2(9839), DLAT(1737), ATP7B(540), MECP2(4204), SLC16A2(6567)]
DROWSINESS(HP:0002329)	[ATP1A2(477), CACNA1A(773), HCRT(3060), ABCC8(6833)]
DRUG-SENSITIVE HEMOLYTIC ANEMIAS(HP:0004817)	[G6PD(2539)]
DRY SKIN(HP:0000958)	[PAH(5053), EDA(1896), GJA1(2697), INSR(3643), CLDN1(9076), ERCC8(1161), TP63(8626), NAGA(4668), SLC5A5(6528), TRH(7200), ERCC6(2074), PAX8(7849)]
DRY, SPARSE SCALP HAIR(HP:0004534)	[KRT6B(3854), KRT17(3872)]
DULL FACIAL EXPRESSION(HP:0008769)	[CC2D1A(54862)]
DUMBBELL WIDENING OF LONG BONE METAPHYSES(HP:0005071)	[COL11A2(1302)]
DUMBBELL-SHAPED LONG BONES(HP:0000947)	[SLC26A2(1836), GNPAT(8443), SLC35D1(23169), COL2A1(1280)]
DUMBBELL-SHAPED METAPHYSES(HP:0002810)	[TRPV4(59341)]
DUMBBELL-SHAPED SHORT LONG BONES(HP:0005075)	[SLC35D1(23169)]
DUODENAL ATRESIA(HP:0002247)	[MYCN(4613), SALL1(6299), GATA1(2623), DCR(1637)]
DUODENAL CARCINOMA(HP:0006771)	[MSH2(4436), MLH1(4292)]
DUODENAL STENOSIS/ATRESIA(HP:0005205)	[GATA1(2623), DCR(1637)]
DUODENAL ULCER(HP:0002588)	[PLG(5340)]
DUPLICATED COLLECTING SYSTEM(HP:0000081)	[TP63(8626), FANCD2(2177), FANCA(2175), FANCC(2176), FANCE(2178)]
DUPLICATION INVOLVING BONES OF THE FEET(HP:0009136)	[MKKS(8195), WHCR(7467), CD96(10225), WHSC1(7468), BBS5(129880), TRIM32(22954), ARL6(84100), LMBR1(64327), CEP290(80184), BBS12(166379), GLI3(2737), DHCR7(1717), RPGRIP1L(23322), EVC(2121), BBS9(27241), TTC8(123016), SC5DL(6309), CANT1(124583), BBS1(582), BBS2(583), BBS4(585), PORCN(64840), HYLS1(219844), ROR2(4920), LBR(3930), BBS10(79738), MKS1(54903), HOXD13(3239), BBS7(55212), RAB23(51715)]
DUPLICATION OF BONES INVOLVING THE UPPER EXTREMITIES(HP:0009142)	[EP300(2033), TWIST1(7291), BBS5(129880), TRIM32(22954), ARL6(84100), SALL4(57167), TGFBR1(7046), TBX3(6926), LMBR1(64327), FLNA(2316), GLI3(2737), FLNB(2317), ALX3(257), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), FANCE(2178), BBS9(27241), SC5DL(6309), CANT1(124583), BMP4(652), SALL1(6299), GPC3(2719), TMEM216(51259), BLM(641), ROR2(4920), LBR(3930), MKS1(54903), MIPOL1(145282), CREBBP(1387), RAB23(51715), MKKS(8195), CD96(10225), EVC2(132884), FGFR3(2261), GDF5(8200), INPP5E(56623), CEP290(80184), FGFR2(2263), BBS12(166379), FGF10(2255), DHCR7(1717), HOXA13(3209), WNT7A(7476), EVC(2121), TTC8(123016), TBX5(6910), BBS1(582), BBS2(583), FANCA(2175), BBS4(585), PORCN(64840), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), BBS10(79738), OFD1(8481), HOXD13(3239), BBS7(55212), CHD7(55636)]
DUPLICATION OF HAND BONES(HP:0004275)	[EP300(2033), TWIST1(7291), BBS5(129880), TRIM32(22954), ARL6(84100), SALL4(57167), TGFBR1(7046), TBX3(6926), LMBR1(64327), FLNA(2316), GLI3(2737), FLNB(2317), ALX3(257), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), FANCE(2178), BBS9(27241), SC5DL(6309), CANT1(124583), BMP4(652), SALL1(6299), GPC3(2719), TMEM216(51259), BLM(641), ROR2(4920), LBR(3930), MKS1(54903), MIPOL1(145282), CREBBP(1387), RAB23(51715), MKKS(8195), CD96(10225), EVC2(132884), FGFR3(2261), GDF5(8200), INPP5E(56623), CEP290(80184), FGFR2(2263), BBS12(166379), FGF10(2255), DHCR7(1717), HOXA13(3209), WNT7A(7476), EVC(2121), TTC8(123016), TBX5(6910), BBS1(582), BBS2(583), FANCA(2175), BBS4(585), PORCN(64840), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), BBS10(79738), OFD1(8481), HOXD13(3239), BBS7(55212), CHD7(55636)]
DUPLICATION OF INTERNAL ORGANS(HP:0005217)	[TFAP2A(7020), NIPBL(25836)]
DUPLICATION OF RENAL PELVIS(HP:0005580)	[GPC3(2719)]
DWARFISM(HP:0001516)	[HSPG2(3339), ARSB(411), COMP(1311), ERCC8(1161), FGFR1(2260), FGFR3(2261), EVC2(132884), GDF5(8200), ERCC6(2074), FLNB(2317), IDS(3423), SLC26A2(1836), RMRP(6023), SOX9(6662), MATN3(4148), GPC6(10082), CTSA(5476), SLC35D1(23169), COL2A1(1280), PPIB(5479), EVC(2121), GDF6(392255), GLB1(2720), CANT1(124583), TRIP11(9321), GALNS(2588), PEX7(5191), B3GALTL(145173), DDR2(4921), TRPV4(59341), LBR(3930), DLL3(10683), GORAB(92344), ALPL(249), ATP8B1(5205), COL1A1(1277), GH1(2688), BMPR1B(658), LEPRE1(64175)]
DWARFISM RECOGNIZABLE AT BIRTH(HP:0008930)	[TRPV4(59341)]
DWARFISM, SHORT-TRUNK, SHORT-LIMBED(HP:0008867)	[COL2A1(1280)]
DYSARTHRIA(HP:0001260)	[MYOT(9499), AUH(549), DCX(1641), ATXN8(724066), SACS(26278), SETX(23064), GAN(8139), NSD1(64324), GJC2(57165), MAPT(4137), DCTN1(1639), SLC16A2(6567), ATXN7(6314), ATXN8OS(6315), CP(1356), COQ2(27235), NPC1(4864), ABCB7(22), ATXN1(6310), ATXN2(6311), CHRNA1(1134), COLQ(8292), NKX2-1(7080), DCAF17(80067), GJB1(2705), C10orf2(56652), CACNA1A(773), GJA1(2697), CHRNE(1145), SLC17A5(26503), CHRND(1144), SIL1(64374), ATP7B(540), CHRNB1(1140), DBH(1621), MAN2B1(4125), TOR1A(1861), UCHL1(7345), RAPSN(5913), POLG(5428), KCTD7(154881), FGF14(2259), PSAP(5660), PDSS2(57107), AAAS(8086), SPG20(23111), PSEN1(5663), KCNC3(3748), ATXN10(25814), PDSS1(23590), SOD1(6647), FTL(2512), HPRT1(3251), TBP(6908), ATCAY(85300), KCNA1(3736), PABPN1(8106), PANK2(80025), TTBK2(146057), AR(367), SMS(6611), HSD17B10(3028), ARSA(410), PRNP(5621), ITPR1(3708), SCARB2(950), SPG7(6687), PLP1(5354), TTR(7276), CSTB(1476), NPC2(10577), ATXN3(4287), TREX1(11277), ALS2(57679), FAM126A(84668), SPG11(80208), VPS13A(23230), SPTBN2(6712), ARX(170302), JPH3(57338), PRKCG(5582), OPA3(80207), ATP1A3(478), ZFYVE26(23503), ATP1A2(477), WFS1(7466), ATM(472), ERCC8(1161), CYP7B1(9420), MUSK(4593), TRIM37(4591), SLC2A1(6513), BEAN(146227), GSS(2937), HEXB(3074), FXN(2395), COQ9(57017), PPP2R2B(5521), TIMM8A(1678), CLN3(1201), PDE8B(8622), APTX(54840), PNKD(25953), CABC1(56997)]
DYSAUTONOMIA(HP:0002459)	[PRNP(5621), LIFR(3977)]
DYSCALCULIA(HP:0002442)	[CHMP2B(25978), CACNA1A(773)]
DYSDIADOCHOKINESIS(HP:0002075)	[PPP2R2B(5521), ATXN10(25814), PDE8B(8622), ABCB7(22), ATXN1(6310), ATXN2(6311)]
DYSFUNCTIONAL ALTERNATIVE COMPLEMENT PATHWAY(HP:0005423)	[CFP(5199)]
DYSGAMMAGLOBULINEMIA(HP:0002961)	[CD40LG(959), NBN(4683)]
DYSGENESIS OR AGENESIS OF THE CEREBELLAR VERMIS(HP:0002195)	[TMEM216(51259), INPP5E(56623)]
DYSHARMONIC MATURATION OF THE HAND BONES(HP:0004053)	[NSD1(64324)]
DYSMETRIA(HP:0001310)	[PRNP(5621), PPP2R2B(5521), TBP(6908), SACS(26278), PRPS1(5631), PLP1(5354), PRPS2(5634), ATXN7(6314), KCNC3(3748), ATXN10(25814), ABCB7(22), PRKCG(5582), NEU1(4758), ATXN1(6310), ATXN2(6311)]
DYSMETRIC SACCADES(HP:0000641)	[ATXN8OS(6315), ATXN3(4287), MFN2(9927), ATXN8(724066), ATXN2(6311), FGF14(2259)]
DYSMYELINATING LEUKODYSTROPHY(HP:0006978)	[SOX10(6663)]
DYSMYELINATION(HP:0003469)	[SOX10(6663), GPR56(9289), ERCC8(1161), ERCC6(2074), HSD17B4(3295), MCOLN1(57192), PHGDH(26227)]
DYSMYELINATION OF THE BRAIN(HP:0007266)	[MCOLN1(57192)]
DYSOSTOSIS MULTIPLEX(HP:0000943)	[ARSB(411), HGSNAT(138050), GUSB(2990), AGA(175), SUMF1(285362), SGSH(6448), IDS(3423), GNS(2799), GNPTG(84572), CTSA(5476), FUCA1(2517), NAGLU(4669), NEU1(4758), GNPTAB(79158), MAN2B1(4125)]
DYSPHAGIA(HP:0002015)	[PRNP(5621), CHAT(1103), DMPK(1760), ATXN8(724066), SETX(23064), MAPT(4137), SPG7(6687), CTNS(1497), ATXN7(6314), ATXN8OS(6315), MID1(4281), NPC2(10577), ATXN3(4287), MYH8(4626), MAPK10(5602), NPC1(4864), ALS2(57679), MATR3(9782), ATXN1(6310), ATXN2(6311), CHRNA1(1134), COLQ(8292), VPS13A(23230), SPG11(80208), NUP62(23636), GJB1(2705), ACOX1(51), SLC9A6(10479), CACNA1A(773), ARX(170302), MPZ(4359), CHRNE(1145), CHRND(1144), PRKCG(5582), ACTA1(58), ATP7B(540), CHRNB1(1140), ATP1A3(478), WFS1(7466), RAPSN(5913), MECP2(4204), POLG(5428), MUSK(4593), PDP1(54704), PSAP(5660), PSEN1(5663), COL7A1(1294), ATXN10(25814), NEB(4703), HPRT1(3251), TBP(6908), TIMM8A(1678), SEMA3E(9723), PABPN1(8106), LIFR(3977), PANK2(80025), GBA(2629), TPM3(7170), AR(367), PNKD(25953), CHD7(55636)]
DYSPHASIA(HP:0002357)	[ATP1A2(477), CACNA1A(773), GRN(2896), CFH(3075), L2HGDH(79944)]
DYSPHONIA(HP:0001618)	[PANK2(80025), POLG(5428)]
DYSPLASTIC ADRENAL GLANDS(HP:0008216)	[HYLS1(219844)]
DYSPLASTIC CORPUS CALLOSUM(HP:0006989)	[CPT2(1376), MCOLN1(57192)]
DYSPLASTIC DISTAL THUMB PHALANGES WITH A CENTRAL HOLE(HP:0005688)	[GLI3(2737)]
DYSPLASTIC EARS(HP:0000398)	[EBP(10682), FGFR1(2260), FGFR2(2263), ZMPSTE24(10269)]
DYSPLASTIC FEMORAL HEAD(HP:0010575)	[IHH(3549)]
DYSPLASTIC ILIAC WINGS(HP:0008794)	[MATN3(4148)]
DYSPLASTIC OR ABSENT CORPUS CALLOSUM(HP:0006800)	[CPT2(1376)]
DYSPLASTIC PATELLA(HP:0006446)	[CHRNG(1146)]
DYSPLASTIC TESTES(HP:0008733)	[TSPYL1(7259)]
DYSPNEA(HP:0002094)	[SCN5A(6331), FBP1(2203), CHAT(1103), DMPK(1760), MMAA(166785), NAGS(162417), FGFR1(2260), FGFR2(2263), DCTN1(1639), DPM1(8813), COL4A6(1288), SOX9(6662), SBDS(51119), ENG(2022), CYB5R3(1727), COL2A1(1280), ACVRL1(94), DSC2(1824), SMAD9(4093), PRKCSH(5589), MMAB(326625), NKX2-1(7080), ALDH7A1(501), ETFDH(2110), ETFB(2109), ETFA(2108), RUNX2(860), SERPINA1(5265), ARX(170302), GBA(2629), SEC63(11231), GAA(2548), CASR(846), CPT2(1376), ISCU(23479), SMPD1(6609), BMPR2(659)]
DYSTONIA(HP:0001332)	[TH(7054), VCP(7415), ARSA(410), AUH(549), MMADHC(27249), DDC(1644), MAPT(4137), MAT1A(4143), PLP1(5354), ATXN3(4287), NPC2(10577), COX15(1355), NPC1(4864), TREX1(11277), GLB1(2720), VPS13A(23230), SGCE(8910), DLAT(1737), DLD(1738), UPB1(51733), NUP62(23636), DCAF17(80067), SURF1(6834), MCOLN1(57192), ACOX1(51), CACNA1A(773), ARX(170302), JPH3(57338), PRKCG(5582), ATP7B(540), PDHX(8050), SUOX(6821), THAP1(55145), DYT3(1863), SPR(6697), TOR1A(1861), ACTB(60), ATP1A3(478), NDUFS7(374291), TAF1(6872), PDHA1(5160), ATP1A2(477), SDHA(6389), MECP2(4204), BCS1L(617), PINK1(65018), PSEN1(5663), PARK2(5071), SLC2A1(6513), NDUFA2(4695), COL4A1(1282), FTL(2512), C8orf38(137682), HPRT1(3251), CNBP(7555), CHMP2B(25978), GCH1(2643), TBP(6908), DRD2(1813), TIMM8A(1678), PCCB(5096), NDUFS3(4722), NDUFV1(4723), PANK2(80025), NDUFS4(4724), APTX(54840), NDUFS8(4728), PNKD(25953), PCCA(5095), GCDH(2639)]
DYSTONIA, EPISODIC(HP:0002412)	[DLAT(1737), PNKD(25953)]
DYSTONIA, PAROXYSMAL(HP:0002268)	[SLC2A1(6513)]
DYSTROPHIC CHANGES MAY BE PRESENT(HP:0003806)	[RYR1(6261), SEPN1(57190)]
DYSTROPHIC TOENAILS(HP:0001810)	[RAB7A(7879), WNT10A(80326)]
E. COLI INFECTIONS(HP:0002740)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
EARLY CATARACTS(HP:0001113)	[FBN1(2200)]
EARLY DEATH(HP:0001432)	[ABCD3(5825), SLC25A22(79751), PEX2(5828), FGFR2(2263), TSFM(10102), HMGCL(3155), CTSD(1509), PSAP(5660), HADHB(3032), NPC2(10577), DOCK8(81704), OGDH(4967), SLC17A5(26503), HADHA(3030), ATP7A(538)]
EARLY DENTAL CARIES(HP:0006306)	[SNRPN(6638), NDN(4692)]
EARLY INVOLVEMENT OF THE CORTICOSPINAL PATHWAYS(HP:0006912)	[ALS2(57679)]
EARLY ONSET(HP:0003593)	[SH3TC2(79628), VCP(7415), AMN(81693), DDB2(1643), DIRC2(84925), ERCC2(2068), NAGS(162417), HNF1A(6927), MAPT(4137), PRPS1(5631), ERCC6(2074), BRCA2(675), RNF139(11236), TTN(7273), CUBN(8029), NPC1(4864), SBF2(81846), RHO(6010), ACADVL(37), PTEN(5728), WT1(7490), XPC(7508), HNF4A(3172), PDX1(3651), MSR1(4481), XPA(7507), FLCN(201163), MECP2(4204), COL8A2(1296), POLH(5429), CDKN2A(1029), RNASEL(6041), HTT(3064), PINK1(65018), PSEN1(5663), BEAN(146227), SMARCAL1(50485), IMPDH1(3614), MFN2(9927), GCK(2645), MMACHC(25974), EIF2AK3(9451), PSEN2(5664), VHL(7428), TRPV4(59341), SNCA(6622), PCDH19(57526), MAD1L1(8379), OGG1(4968), APTX(54840), TP53(7157), KLF6(1316)]
EARLY ONSET, MILD AND RELATIVELY UNCOMPLICATED COURSE(HP:0003672)	[GCK(2645), HNF4A(3172)]
EARLY SEVERE FETAL AKINESIA SEQUENCE(HP:0001989)	[CHRNA1(1134), CHRNG(1146), CHRND(1144)]
EARLY TOOTH LOSS(HP:0001564)	[TINF2(26277), TERC(7012), TERT(7015), DKC1(1736)]
EASY FATIGABILITY(HP:0003388)	[CHRNA1(1134), COLQ(8292), RAPSN(5913), MUSK(4593), TGFB1(7040), MYF6(4618), DOK7(285489), CHRNE(1145), CHRND(1144), AGRN(375790), CHRNB1(1140), DNM2(1785), POMT1(10585)]
EBURNATED EPIPHYSES OF DISTAL PHALANGES(HP:0006105)	[TRPS1(7227)]
ECCHYMOSES(HP:0000978)	[GP1BA(2811), PLOD1(5351), P2RY12(64805), GGCX(2677), SERPINF2(5345), GATA1(2623), HPS5(11234), COL5A2(1290), PDE11A(50940), COL5A1(1289), BLOC1S3(388552), NME1(4830), MYH9(4627), FANCD2(2177), FANCC(2176), COL3A1(1281), FANCE(2178), DTNBP1(84062), ITGA2B(3674), PTGS1(5742), F11(2160), HPS3(84343), FANCA(2175), AIP(9049), HPS1(3257), RUNX1(861), VWF(7450), PRKAR1A(5573), WAS(7454), HPS4(89781), COL1A2(1278), F8(2157), COL1A1(1277), MASTL(84930), HPS6(79803), ATP7A(538), ADAMTS2(9509)]
ECLABION(HP:0002264)	[ABHD5(51099), ABCA12(26154)]
ECTODERMAL DYSPLASIA(HP:0000968)	[TP63(8626), KRT85(3891)]
ECTOPIA LENTIS(HP:0001083)	[FBN1(2200), ADAMTSL4(54507), FBN2(2201), PORCN(64840), COL5A2(1290), TAP1(6890), TAP2(6891), COL5A1(1289), TAPBP(6892), ADAMTS10(81794), AASS(10157), CBS(875), COL1A1(1277), SUOX(6821)]
ECTOPIC ANUS(HP:0004397)	[MED12(9968), HCCS(3052), PORCN(64840), RECQL4(9401), FGFR2(2263), UBR1(197131)]
ECTOPIC CALCIFICATIONS(HP:0010766)	[FBN1(2200), PEX19(5824), ABCD3(5825), TINF2(26277), PEX2(5828), ARSE(415), ERCC3(2071), PEX5(5830), AGPS(8540), MGP(4256), PRPS1(5631), ERCC6(2074), HSD17B4(3295), SLC34A2(10568), THRB(7068), GCM2(9247), KL(9365), TREX1(11277), PTCH1(5727), SLC46A1(113235), NSDHL(50814), NEU1(4758), ECM1(1893), PAH(5053), PEX10(5192), PTH(5741), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), GALNT3(2591), TSC1(7248), TSC2(7249), DDR2(4921), LBR(3930), SLC12A3(6559), GJA1(2697), SPINK1(6690), SLC12A1(6557), GNPAT(8443), ATP7B(540), PTH1R(5745), CPT2(1376), PRSS1(5644), ENPP1(5167), GGCX(2677), ERCC8(1161), KRIT1(889), FGF23(8074), PRPS2(5634), SLC26A2(1836), HGD(3081), CA2(760), WRN(7486), TREM2(54209), KCNJ1(3758), PEX26(55670), ANKH(56172), GNAS(2778), ABCC6(368), PEX3(8504), SUMF1(285362), EBP(10682), GBA(2629), ALPL(249), RB1(5925), TYROBP(7305), CASR(846)]
ECTOPIC KIDNEY(HP:0000086)	[HOXD13(3239), CCBE1(147372), FANCD2(2177), FANCA(2175), SALL4(57167), FANCC(2176), STRA6(64220), FANCE(2178), NIPBL(25836), GLI3(2737)]
ECTOPIC KIDNEY WITH FUSION(HP:0004736)	[SALL4(57167)]
ECTRODACTYLY (FEET)(HP:0001839)	[WNT10B(7480), SHFM1(7979), TP63(8626), PORCN(64840)]
ECTRODACTYLY (HANDS)(HP:0001171)	[CTDP1(9150), SBF2(81846), ARSB(411), HSPB1(3315), SHFM1(7979), NEFL(4747), TP63(8626), PORCN(64840), HSD17B4(3295), SEMA3E(9723), PRX(57716), IDS(3423), WNT10B(7480), CDH3(1001), MED12(9968), EGR2(1959), MPZ(4359), MMP2(4313), GDAP1(54332), PMP22(5376), WNT7A(7476), GNPTAB(79158), CHD7(55636)]
ECTROPION(HP:0000656)	[ABHD5(51099), FOXC2(2303), DDB2(1643), ITGB4(3691), ABCA1(19), ERCC2(2068), SAT1(6303), XPC(7508), ERCC6(2074), XPA(7507), POLH(5429), ITGA6(3655)]
ECZEMA(HP:0000964)	[BTD(686), SPINK5(11005), MCCC2(64087), FLG(2312), BRAF(673), EDA(1896), NCF2(4688), MAP2K1(5604), FOXP3(50943), MAP2K2(5605), DGCR(1714), NCF1(653361), PAH(5053), HPGD(3248), STAT3(6774), SLC39A4(55630), TP63(8626), TBX1(6899), CYBA(1535), KRAS(3845), CYBB(1536), LBR(3930), WAS(7454), DOCK8(81704), CASP8(841), C5(727)]
ECZEMATOID DERMATITIS(HP:0000976)	[NCF2(4688), HPGD(3248), STAT3(6774), NCF1(653361), DOCK8(81704), FLG(2312), CYBA(1535), CYBB(1536)]
EDEMA(HP:0000969)	[PLCE1(51196), FECH(2235), TRPS1(7227), LAMB2(3913), SCN9A(6335), NPHS2(7827), MRPS22(56945), NLRP3(114548), AIP(9049), WISP3(8838), MVK(4598), MED12(9968), MLC1(23209), NPHS1(4868), SH3BP2(6452), GBA(2629), FLT4(2324), TREM2(54209), TYROBP(7305), MRPS16(51021), COL1A1(1277), UBR1(197131), TMPRSS15(5651), ACVR1(90)]
EEG ABNORMALITIES(HP:0002353)	[KCNJ11(3767), EP300(2033), FKRP(79147), DISC2(27184), ANCR(282), BCS1L(617), MECP2(4204), PRODH(5625), SCN2A(6326), DPM1(8813), INS(3630), PPT1(5538), PHF6(84295), CDKL5(6792), SLC2A1(6513), NF1(4763), CLN8(2055), TREM2(54209), NLGN4X(57502), UQCRQ(27089), DOLK(22845), AASS(10157), UBE3A(7337), PHGDH(26227), UQCRB(7381), GALC(2581), POMGNT1(55624), ALG3(10195), GCK(2645), MFSD8(256471), UPB1(51733), ABCC8(6833), ARX(170302), CREBBP(1387), ALDH5A1(7915), TYROBP(7305)]
EFFORT-INDUCED POLYMORPHIC VENTRICULAR TACHYCARDIAS(HP:0004758)	[RYR2(6262)]
ELBOW ANKYLOSIS(HP:0003070)	[DOK7(285489), RAPSN(5913), FGFR1(2260), FGFR2(2263), WNT7A(7476)]
ELBOW CONTRACTURES(HP:0002987)	[FBN2(2201), LARGE(9215), LMNA(4000), ATR(545), EMD(2010), ERCC6(2074), DDR2(4921), NIPBL(25836), TFAP2A(7020), GJB2(2706), FLNA(2316), LIFR(3977), ESCO2(157570), COL6A1(1291), COL6A2(1292), COL6A3(1293), TPM2(7169), WNT7A(7476), CPT2(1376)]
ELBOW DISLOCATION(HP:0003042)	[FBN1(2200), NOG(9241), CD96(10225), CHRNG(1146), TBX15(6913), ATR(545), GPC6(10082), GDF5(8200), NIPBL(25836), FLNA(2316), GLI3(2737), FLNB(2317)]
ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479)	[LAMB3(3914), ST14(6768), LAMC2(3918), KRT1(3848), COL17A1(1308), LAMA3(3909), ITGB4(3691), DSP(1832), ATP2A2(488), WNT10A(80326), POMP(51371), KRT10(3858), NOTCH3(4854), PLEC(5339), ADAMTS2(9509)]
ELECTRON MICROSCOPY OF FOAM CELLS SHOWS LAMELLAR INCLUSIONS(HP:0003609)	[SMPD1(6609), SC5DL(6309)]
ELECTRON MICROSCOPY SHOWS SUBSARCOLEMMAL ACCUMULATIONS OF ABNORMALLY SHAPED MITOCHONDRIA(HP:0003548)	[SLC25A4(291), TYMP(1890), POLG(5428), C10orf2(56652)]
ELECTRON TRANSFER FLAVOPROTEIN-UBIQUINONE OXIDOREDUCTASE DEFECT(HP:0003647)	[ETFDH(2110), ETFB(2109), ETFA(2108)]
ELECTRORETINOGRAM SHOWS A REDUCED B-WAVE IN MOST CASES(HP:0007984)	[RS1(6247)]
ELEVATED 8(9)-CHOLESTENOL(HP:0003465)	[NSDHL(50814)]
ELEVATED 8-DEHYDROCHOLESTEROL(HP:0003462)	[EBP(10682), NSDHL(50814)]
ELEVATED ALKALINE PHOSPHATASE(HP:0003155)	[VCP(7415), PRKCSH(5589), PHEX(5251), SQSTM1(8878), SOST(50964), AKR1D1(6718), VDR(7421), FGF23(8074), CYP2R1(120227), CSF3R(1441), CYP27B1(1594), SLC2A2(6514), SLC34A3(142680), SEC63(11231), ABCB11(8647), PTH1R(5745), TNFRSF11A(8792), TCIRG1(10312), SC5DL(6309)]
ELEVATED ALKALINE PHOSPHATASE OF BONE ORIGIN(HP:0010639)	[VCP(7415)]
ELEVATED ALPHA-FETOPROTEIN(HP:0006254)	[MKS1(54903), FAH(2184), ITGB4(3691), ATM(472), SETX(23064), OCRL(4952), ITGA6(3655)]
ELEVATED AMNIOTIC ALPHA-FETOPROTEIN IN AFFECTED FETUSES WITH ENCEPHALOCELE(HP:0005985)	[MKS1(54903)]
ELEVATED AMNIOTIC FLUID ALPHA-FETOPROTEIN(HP:0004639)	[MKS1(54903), OCRL(4952)]
ELEVATED CALCITONIN(HP:0003528)	[RET(5979)]
ELEVATED CATECHOLAMINES (IN PATIENTS WITH PHEOCHROMOCYTOMA)(HP:0003334)	[SDHD(6392), SDHC(6391)]
ELEVATED CREATINE KINASE AFTER EXERCISE(HP:0008331)	[ENO3(2027)]
ELEVATED DIASTOLIC BLOOD PRESSURE(HP:0005117)	[AGTR1(185), PTGIS(5740), PNMT(5409)]
ELEVATED ERYTHROCYTE SEDIMENTATION RATE(HP:0003565)	[IGHR(8117), WAS(7454), MEFV(4210), TNFRSF1A(7132), NLRP3(114548), TREX1(11277), MVK(4598)]
ELEVATED FOLLICLE STIMULATING HORMONE(HP:0008232)	[CNBP(7555), AR(367)]
ELEVATED GONADOTROPINS(HP:0000837)	[FOXL2(668), LHCGR(3973), FSHR(2492)]
ELEVATED IMPRINT OF THE TRANSVERSE SINUSES(HP:0000930)	[ZIC1(7545), ZIC4(84107)]
ELEVATED LEUKOCYTE ALKALINE PHOSPHATASE(HP:0008318)	[CSF3R(1441)]
ELEVATED LIVER ENZYMES(HP:0003293)	[ACADM(34), HADHB(3032), GALT(2592), HADHA(3030)]
ELEVATED LONG CHAIN FATTY ACIDS(HP:0003455)	[PEX19(5824), PEX2(5828), PEX10(5192), PEX14(5195), PEX5(5830), PEX13(5194), PEX1(5189), PEX3(8504), ABCD1(215), CPT2(1376), PEX26(55670)]
ELEVATED MATERNAL SERUM ALPHA-FETOPROTEIN(HP:0005984)	[OCRL(4952)]
ELEVATED MEAN ARTERIAL PRESSURE(HP:0004972)	[AGTR1(185), PTGIS(5740), PNMT(5409)]
ELEVATED PLASMA ACTH(HP:0003154)	[MRAP(56246), AIP(9049), MC2R(4158)]
ELEVATED PLASMA AND URINE INORGANIC PYROPHOSPHATE (PPI)(HP:0003491)	[ALPL(249)]
ELEVATED PLASMA BRANCHED CHAIN AMINO ACIDS(HP:0008344)	[BCKDHA(593), BCKDHB(594), DBT(1629), DLD(1738)]
ELEVATED PULMONARY ARTERY PRESSURE(HP:0004890)	[LIPA(3988), SLC37A4(2542), GJA1(2697), GBA(2629), SLC17A3(10786), FOXF1(2294), COL1A1(1277), ACVRL1(94), SMAD9(4093), FLNA(2316), LIFR(3977), BMPR2(659)]
ELEVATED RIGHT ATRIAL PRESSURE(HP:0005168)	[SMAD9(4093), BMPR2(659)]
ELEVATED SERUM ACID PHOSPHATASE(HP:0003148)	[CLCN7(1186), CA2(760), TNFRSF11B(4982), OCRL(4952)]
ELEVATED SERUM CREATINE PHOSPHOKINASE(HP:0003236)	[CAV3(859), COL9A3(1299), SGCB(6443), ENO3(2027), MATR3(9782)]
ELEVATED SERUM PARATHYROID HORMONE (PTH) LEVEL(HP:0003165)	[GNAS(2778), CYP27B1(1594), VDR(7421), GNASAS(149775), CASR(846), STX16(8675)]
ELEVATED SERUM TRANSAMINASES DURING INFECTIONS(HP:0008150)	[ALG6(29929)]
ELEVATED SYSTOLIC BLOOD PRESSURE(HP:0004421)	[AGTR1(185), PTGIS(5740), PNMT(5409), AVPR2(554)]
ELEVATED TISSUE NON-SPECIFIC ALKALINE PHOSPHATASE(HP:0010679)	[VCP(7415)]
ELEVATED TOTAL CHOLESTEROL(HP:0008154)	[OCRL(4952)]
ELEVATED TRANSAMINASES(HP:0002910)	[CPT1A(1374), SLC37A4(2542), ACAD9(28976), G6PC(2538), ALG6(29929), MVK(4598), FAH(2184), GNMT(27232), ALMS1(7840), AGL(178), PMM2(5373), JAG1(182), HFE(3077), SC5DL(6309)]
ELEVATED URINARY DELTA-AMINOLEVULINIC ACID(HP:0003163)	[FAH(2184), ALAD(210)]
ELEVATED URINARY NOREPINEPHRINE(HP:0003345)	[RET(5979), KIF1B(23095), SDHD(6392), SDHB(6390), VHL(7428)]
ELEVATED WHITE BLOOD CELL CYSTINE(HP:0003358)	[CTNS(1497)]
ELFIN FACIES(HP:0004428)	[INSR(3643)]
ELLIPTOCYTOSIS(HP:0004445)	[SPTB(6710), SPTA1(6708), SLC4A1(6521), HAGH(3029)]
ELONGATED RADIUS WITH HYPOPLASIA OF RADIAL HEAD(HP:0006424)	[LMX1B(4010)]
ELONGATED, TORTUOUS CAROTID ARTERIES(HP:0005302)	[ATP7A(538)]
EMBRYONAL RHABDOMYOSARCOMA(HP:0006743)	[SLC22A18(5002)]
EMBRYONAL TUMORS(HP:0002898)	[GPC3(2719)]
EMG MYOPATHIC ABNORMALITIES(HP:0003458)	[SGCB(6443)]
EMG SHOWS CHRONIC AXONAL NEUROPATHY(HP:0007267)	[SPTLC1(10558)]
EMG SHOWS CHRONIC DENERVATION(HP:0003444)	[PLA2G6(8398), HSPB8(26353), ALS2(57679), SLC12A6(9990)]
EMG SHOWS DECREMENTAL RESPONSE OF COMPOUND MUSCLE ACTION POTENTIAL (CMAP) TO REPETITIVE NERVE STIMULATION(HP:0003403)	[COLQ(8292), CHRNE(1145), RAPSN(5913), CHRNB1(1140), MUSK(4593)]
EMG SHOWS EVIDENCE OF DENERVATION(HP:0007059)	[HSPB8(26353), ALS2(57679), SLC12A6(9990)]
EMG SHOWS MYOPATHIC CHANGES(HP:0003322)	[TK2(7084), BIN1(274), FKRP(79147), MYOT(9499), POMGNT1(55624), LMNA(4000), LARGE(9215), TRIM32(22954), DYSF(8291), SGCA(6442), POLG(5428), DES(1674), C10orf2(56652), CRYAB(1410), SLC25A4(291), MYH7(4625), TTN(7273), GNE(10020), LAMP2(3920), TPM3(7170), ANO5(203859), NEB(4703), LDB3(11155)]
EMG SHOWS MYOPATHIC CHANGES EARLY IN DISEASE(HP:0009021)	[NEB(4703)]
EMG SHOWS NEUROGENIC ABNORMALITIES(HP:0002178)	[SMN1(6606), PLEKHG5(57449), IGHMBP2(3508), HSPB1(3315), HSPB8(26353), VRK1(7443), VAPB(9217), ATP7A(538), LDB3(11155)]
EMG SHOWS NEUROGENIC CHANGES AND DENERVATION(HP:0007279)	[PLEKHG5(57449)]
EMG SHOWS NEUROPATHIC CHANGES(HP:0003445)	[ARSA(410), GDAP1(54332)]
EMG SHOWS SPONTANEOUS, REPETITIVE ELECTRICAL ACTIVITY ('MYOTONIC RUNS')(HP:0003730)	[CLCN1(1180)]
EMOTIONAL LABILITY(HP:0000712)	[PRNP(5621), UQCRB(7381), ATP1A3(478), ARSA(410), PGK1(5230), SLC39A4(55630), DDC(1644), NTRK1(4914), BCS1L(617), POLG(5428), SLC6A19(340024), MED12(9968), EIF2B2(8892), EIF2B5(8893), SPG20(23111), IKBKAP(8518), EIF2B4(8890), EIF2B3(8891), UQCRQ(27089), EIF2B1(1967)]
EMPHYSEMA(HP:0002097)	[FBN1(2200), SERPINA1(5265), TAP1(6890), TAP2(6891), LAMB1(3912), ELN(2006), FBLN5(10516), TAPBP(6892), EFEMP2(30008), LOX(4015)]
ENAMEL DYSPLASIA(HP:0001565)	[MBTPS2(51360)]
ENCEPHALITIS(HP:0002383)	[SH2D1A(4068), BTK(695)]
ENCEPHALOCELE(HP:0002084)	[ALX4(60529), FKRP(79147), FRAS1(80144), TMEM216(51259), LARGE(9215), FLNB(2317), COL18A1(80781), MKS1(54903), FKTN(2218), ESCO2(157570), MSX2(4488), ALX3(257), HOXD13(3239), RPGRIP1L(23322), FREM2(341640), POMT1(10585), POMT2(29954)]
ENCEPHALOPATHY(HP:0001298)	[SLC25A15(10166), CPT1A(1374), BCS1L(617), MECP2(4204), TSFM(10102), NDUFAF2(91942), PDSS2(57107), SLC22A5(6584), DGUOK(1716), NDUFA1(4694), TREX1(11277), COQ2(27235), UQCRQ(27089), PDSS1(23590), ACY1(95), UQCRB(7381), COQ9(57017), NDUFAF3(25915), NDUFA11(126328), D2HGDH(728294), NDUFAF4(29078), TSEN54(283989), NDUFS1(4719), C10orf2(56652), PCCB(5096), NDUFV1(4723), NDUFS2(4720), HADH(3033), NDUFS6(4726), C20orf7(79133), MPV17(4358), NDUFS4(4724), APTX(54840), ETHE1(23474), PCCA(5095), GCDH(2639), CABC1(56997)]
ENCEPHALOPATHY, HYPOGLYCEMIC(HP:0006929)	[HADH(3033)]
ENCEPHALOPATHY, PROGRESSIVE(HP:0002448)	[TREX1(11277)]
ENCEPHALOPATHY, RECURRENT(HP:0007335)	[CPT1A(1374)]
END STAGE RENAL DISEASE(HP:0003774)	[INVS(27130), NPHP4(261734), SLC7A7(9056), LAMB2(3913), NPHP1(4867), AHI1(54806), NPHS2(7827), MYH9(4627), IQCB1(9657), CEP290(80184), CTNS(1497), PAX2(5076)]
END-ORGAN UNRESPONSIVENESS TO THYROID HORMONE(HP:0008215)	[THRB(7068)]
ENDOCARDIAL FIBROELASTOSIS(HP:0001706)	[SLC22A5(6584)]
ENDOCARDIAL FIBROSIS(HP:0006685)	[SP110(3431), PDGFRA(5156)]
ENDOCRINE ABNORMALITY(HP:0000818)	[RET(5979), AVP(551), ATRX(546), GLUD1(2746), TRIM24(8805), PROK2(60675), CCBE1(147372), HSD17B3(3293), HSD17B4(3295), NRAS(4893), AVPR2(554), H19(283120), TGFB1(7040), SLC16A1(6566), REN(5972), GLI3(2737), DCR(1637), RENBP(5973), HSD11B2(3291), KCNQ1OT1(10984), THRB(7068), NPHS1(4868), GCM2(9247), THRA(7067), THPO(7066), HESX1(8820), COQ2(27235), FANCD2(2177), FANCC(2176), NPPA(4878), FANCE(2178), UBR1(197131), BBS9(27241), GLA(2717), PPARG(5468), NKX2-1(7080), NTRK1(4914), NEUROG3(50674), SLC5A5(6528), GK(2710), GTF2H5(404672), RAB3GAP2(25782), MPL(4352), SLC12A3(6559), SLC12A1(6557), POR(5447), FST(10468), ATP7B(540), PUS1(80324), GIP(2695), PROKR2(128674), GH1(2688), GHR(2690), GP1BA(2811), MKKS(8195), CYP11A1(1583), KCNJ11(3767), SNRPN(6638), GP9(2815), GP1BB(2812), LHX4(89884), FGFR1(2260), CDKN1B(1027), BCS1L(617), BBS12(166379), POLG(5428), CDKN1C(1028), AAAS(8086), CYP27B1(1594), GNRHR(2798), GNRH1(2796), PNMT(5409), FGD1(2245), KCNJ1(3758), CYP21A2(1589), CYP19A1(1588), CYP17A1(1586), FGA(2243), CYP11B2(1585), CYP11B1(1584), CNBP(7555), GNAS(2778), KAL1(3730), BBS1(582), BBS2(583), BBS4(585), JAK2(3717), WNK1(65125), BBS10(79738), CCND1(595), CUL7(9820), ZFP57(346171), TP53(7157), DMPK(1760), ERCC2(2068), TRIM32(22954), ERCC3(2071), ARL6(84100), GATA1(2623), HNF1A(6927), TBX3(6926), PRPS1(5631), ERCC6(2074), PROP1(5626), TRIM33(51592), ITGB3(3690), CCDC6(8030), HMBS(3145), NCOA4(8031), GALT(2592), HNF1B(6928), BTK(695), LHX3(8022), BMP4(652), ITGA2B(3674), DIO1(1733), BLM(641), WT1(7490), FOXL2(668), MKS1(54903), AGTR1(185), KISS1R(84634), PRKAR1A(5573), NR0B1(190), RECQL4(9401), WNT4(54361), HNF4A(3172), PDX1(3651), JAG1(182), BMPR1B(658), WHCR(7467), WFS1(7466), INSR(3643), WHSC1(7468), SIX3(6496), APOA5(116519), ERCC8(1161), CEP290(80184), PAX4(5078), ZMPSTE24(10269), EYA1(2138), EIF2B2(8892), INS(3630), EIF2B5(8893), DHCR7(1717), DGCR(1714), EIF2B4(8890), WRN(7486), SLC17A3(10786), EIF2B3(8891), WNT3(7473), ABCD1(215), CFH(3075), AKT2(208), HFE(3077), TNDM(7952), SMARCAL1(50485), SHH(6469), COQ9(57017), ALG1(56052), GCK(2645), PCNT(5116), CLCNKB(1188), FANCA(2175), PCM1(5108), ALDOA(226), EIF2AK3(9451), VHL(7428), WNK4(65266), PPP1R3A(5506), VWF(7450), GATA3(2625), F10(2159), APTX(54840), GOLGA5(9950), TG(7038), CABC1(56997), F5(2153), LYZ(4069), CPOX(1371), BBS5(129880), NELF(26012), NSD1(64324), VDR(7421), FOXP3(50943), CP(1356), PDE11A(50940), STK11(6794), MYH9(4627), PGR(5241), UPK3A(7380), SALL1(6299), KIF1B(23095), PEX10(5192), PTH(5741), PEX14(5195), PTGIS(5740), PEX13(5194), AIP(9049), PEX1(5189), GNASAS(149775), PTEN(5728), DCAF17(80067), CRH(1392), ABCC8(6833), FSHB(2488), FSHR(2492), SIL1(64374), RAB23(51715), PTH1R(5745), PRSS1(5644), LMNA(4000), SDHD(6392), MINPP1(9562), SDHC(6391), SDHB(6390), APOE(348), TAC3(6866), TACR3(6870), PRPS2(5634), AIRE(326), PDSS2(57107), CUL4B(8450), SERPINA6(866), APC(324), NDN(4692), PHF6(84295), BSND(7809), APOA1(335), PDSS1(23590), MEN1(4221), COL4A5(1287), SLC26A4(5172), TTC8(123016), PEX26(55670), BSCL2(26580), LHCGR(3973), TBCE(6905), LHB(3972), SLC37A4(2542), VPS13B(157680), SLC39A4(55630), G6PC(2538), TBX1(6899), PEX3(8504), PCSK1(5122), SLC26A3(1811), AQP2(359), HADH(3033), BBS7(55212), ALMS1(7840), SCNN1G(6340), AR(367), CASR(846), SCNN1A(6337), CHD7(55636), SCNN1B(6338), PAX8(7849), PEX19(5824), FOXE1(2304), SLC19A2(10560), ARSE(415), STS(412), PEX5(5830), CD36(948), CTNS(1497), IYD(389434), TTR(7276), SOX2(6657), NF1(4763), SOX3(6658), NSDHL(50814), PMM2(5373), FMO3(2328), FN1(2335), NKX2-5(1482), PKHD1(5314), TSHB(7252), TSHR(7253), SRD5A2(6716), TSC1(7248), TSC2(7249), INVS(27130), SPINK1(6690), STX16(8675), CTDP1(9150), SRY(6736), ATM(472), CDC73(79577), PTPN11(5781), MPI(4351), NME1(4830), EIF2B1(1967), TRH(7200), PKD2(5311), FXN(2395), PITX2(5308), STAR(6770), TP63(8626), HYLS1(219844), SEMA3E(9723), SSTR5(6755), DUOXA2(405753), AGPAT2(10555), TBX19(9095), TPO(7173), NR3C1(2908)]
ENDOPOLYPLOIDY ON CHROMOSOME STUDIES OF BONE MARROW(HP:0003352)	[CDAN1(146059), SEC23B(10483)]
ENLARGED CAPITAL FEMORAL EPIPHYSES(HP:0003371)	[WISP3(8838)]
ENLARGED CISTERNA MAGNA(HP:0002280)	[MAPK10(5602), OPHN1(4983), NSD1(64324)]
ENLARGED EPIPHYSES(HP:0010580)	[CLCN5(1184), CYP27B1(1594), SLC34A3(142680), WISP3(8838), VDR(7421), COL11A2(1302), CYP2R1(120227)]
ENLARGED EPIPHYSES OF THE 2ND FINGER(HP:0009491)	[GDF5(8200)]
ENLARGED EPIPHYSES OF THE 3RD FINGER(HP:0009413)	[GDF5(8200)]
ENLARGED EPIPHYSES OF THE MIDDLE PHALANGES OF THE HAND(HP:0010260)	[GDF5(8200)]
ENLARGED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010231)	[GDF5(8200)]
ENLARGED EPIPHYSES OF THE PROXIMAL PHALANGES OF THE HAND(HP:0010271)	[GDF5(8200)]
ENLARGED EPIPHYSIS OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009516)	[GDF5(8200)]
ENLARGED EPIPHYSIS OF THE MIDDLE PHALANX OF THE 3RD FINGER(HP:0009324)	[GDF5(8200)]
ENLARGED EPIPHYSIS OF THE PROXIMAL PHALANX OF THE 2ND FINGER(HP:0009527)	[GDF5(8200)]
ENLARGED EPIPHYSIS OF THE PROXIMAL PHALANX OF THE 3RD FINGER(HP:0009349)	[GDF5(8200)]
ENLARGED FOURTH VENTRICLE(HP:0002198)	[ATXN3(4287), ZIC1(7545), ZIC4(84107), ATXN2(6311)]
ENLARGED FOURTH VENTRICLE, MILD(HP:0007223)	[ATXN3(4287)]
ENLARGED INTERPHALANGEAL JOINTS(HP:0006247)	[HOXD13(3239), WISP3(8838)]
ENLARGED JOINTS(HP:0003037)	[HOXD13(3239), WISP3(8838), COL2A1(1280), COL11A2(1302)]
ENLARGED KIDNEYS(HP:0000105)	[INVS(27130), KCNQ1OT1(10984), SLC37A4(2542), GPC3(2719), PKHD1(5314), G6PC(2538), NSD1(64324), NPHP3(27031), CPT2(1376), CDKN1C(1028), H19(283120)]
ENLARGED LABIA MINORA(HP:0008683)	[ESCO2(157570)]
ENLARGED LATERAL VENTRICLES(HP:0007173)	[GRN(2896), D2HGDH(728294)]
ENLARGED LYSOSOMAL VACUOLES IN LYMPHOCYTES(HP:0008329)	[SLC17A5(26503)]
ENLARGED METACARPOPHALANGEAL JOINTS(HP:0006163)	[WISP3(8838)]
ENLARGED PENIS(HP:0000040)	[ESCO2(157570), INSR(3643), FGFR1(2260), PTEN(5728), CYP11B1(1584)]
ENLARGED POLYCYSTIC KIDNEYS(HP:0004716)	[CPT2(1376)]
ENLARGED POLYCYSTIC OVARIES(HP:0008675)	[FST(10468)]
ENLARGED PROXIMAL INTERPHALANGEAL JOINTS(HP:0006185)	[HOXD13(3239)]
ENLARGED, HYPERECHOGENIC KIDNEYS(HP:0004719)	[INVS(27130)]
ENLARGEMENT AND BULGING OF THE COSTOCHONDRAL JUNCTION(HP:0006620)	[CYP2R1(120227)]
ENLARGEMENT OF THE ANKLES(HP:0003029)	[CLCN5(1184), CYP27B1(1594), SLC34A3(142680), VDR(7421), CYP2R1(120227)]
ENLARGEMENT OF THE COSTOCHONDRAL JUNCTION(HP:0000920)	[NOG(9241), CYP27B1(1594), SBDS(51119), SLC34A3(142680), DYM(54808), CYP2R1(120227)]
ENLARGEMENT OF THE WRISTS(HP:0003020)	[CLCN5(1184), CYP27B1(1594), SLC34A3(142680), VDR(7421), CYP2R1(120227)]
ENOPHTHALMOS(HP:0000663)	[FBN1(2200), EP300(2033), NDP(4693), CREBBP(1387)]
ENTEROCOLITIS(HP:0004387)	[RET(5979), L1CAM(3897), PHOX2B(8929), GDNF(2668)]
ENTEROPATHY(HP:0002628)	[FOXP3(50943), MYO5B(4645), SPINK5(11005)]
ENTEROVIRAL DERMATOMYOSITIS SYNDROME(HP:0003729)	[BTK(695)]
ENTEROVIRAL HEPATITIS(HP:0001412)	[BTK(695)]
ENTROPION(HP:0000621)	[DDB2(1643), ERCC2(2068), XPC(7508), ERCC6(2074), XPA(7507), POLH(5429), ZMPSTE24(10269)]
ENURESIS(HP:0000805)	[SLC5A2(6524)]
EOSINOPHILIA(HP:0001880)	[IKBKG(8517), ADA(100), STAT3(6774), ELANE(1991), RAG2(5897), DOCK8(81704), DCLRE1C(64421), RAG1(5896), FAS(355), CASP10(843), PDGFRA(5156)]
EPENDYMOMA(HP:0002888)	[MSH2(4436), MSH6(2956), MLH1(4292), PMS2(5395), TSC1(7248), NF2(4771), TSC2(7249)]
EPIBULBAR DERMOIDS(HP:0001140)	[PTEN(5728)]
EPICANTHAL FOLDS, MILD(HP:0000624)	[AHI1(54806), SALL4(57167)]
EPICANTHUS(HP:0000286)	[PEX19(5824), MYCN(4613), ABCD3(5825), PLOD1(5351), EP300(2033), ATRX(546), PEX2(5828), PEX5(5830), MYH3(4621), GATA1(2623), SALL4(57167), CCBE1(147372), NSD1(64324), PRPS1(5631), HSD17B4(3295), BRAF(673), GLI3(2737), DCR(1637), MAP2K1(5604), MAP2K2(5605), BUB1B(701), ALX3(257), HRAS(3265), GNE(10020), GNPTAB(79158), SC5DL(6309), DNMT3B(1789), CHRNA1(1134), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), SLC17A5(26503), CHRND(1144), CREBBP(1387), RECQL4(9401), PDHX(8050), ZNF469(84627), COL1A1(1277), RAB23(51715), MAN2B1(4125), ADAMTS2(9509), WHCR(7467), CD96(10225), SEPT9(10801), WHSC1(7468), INPP5E(56623), LMBRD1(55788), COL11A1(1301), PRPS2(5634), COL5A2(1290), MED12(9968), PTPN11(5781), DHCR24(1718), COL5A1(1289), DHCR7(1717), SOS1(6654), AHI1(54806), GPC6(10082), PQBP1(10084), PEX26(55670), FOXC2(2303), ALG3(10195), KRAS(3845), PEX3(8504), ALDOA(226), OFD1(8481), FAM123B(139285)]
EPICANTHUS INVERSUS(HP:0000537)	[FOXL2(668)]
EPIDERMAL HYPERKERATOSIS(HP:0007543)	[ZMPSTE24(10269)]
EPIDERMOLYSIS BULLOSA INVOLVING HANDS AND FEET ONLY(HP:0007446)	[ITGB4(3691), KRT5(3852), KRT14(3861)]
EPIDERMOLYTIC HYPERKERATOSIS(HP:0007475)	[GJA1(2697), KRT1(3848), KRT10(3858)]
EPIDIDYMITIS(HP:0000031)	[BTK(695)]
EPIDURAL ARACHNOID CYSTS OF THE SPINAL CANAL(HP:0009745)	[FOXC2(2303)]
EPILEPSY(HP:0001275)	[LGI1(9211), SCN9A(6335), SCN1A(6323), ALDH7A1(501), KCTD7(154881), PAX2(5076), PCDH19(57526), NF1(4763), KCNQ2(3785), GPR98(84059), KCNQ3(3786), SYN1(6853), PAK3(5063), CHRNA4(1137), PHGDH(26227)]
EPIPHORA(HP:0001486)	[NOP10(55505), DKC1(1736), NHP2(55651)]
EPIPHYSEAL DEFORMITIES OF TUBULAR BONES(HP:0003053)	[GALNS(2588), COL2A1(1280), GLB1(2720)]
EPIPHYSEAL DYSPLASIA(HP:0002656)	[SLC26A2(1836), ARSB(411), COMP(1311), MATN3(4148), COL9A3(1299), COL9A2(1298), COL2A1(1280), COL11A2(1302), EIF2AK3(9451)]
EPISODES OF NEISSERIAL INFECTION(HP:0005378)	[C8A(731)]
EPISODES OF VENTRICULAR TACHYCARDIA(HP:0005141)	[JUP(3728)]
EPISODIC ABDOMINAL PAIN(HP:0002574)	[LPL(4023), HEXB(3074)]
EPISODIC AMMONIA INTOXICATION(HP:0001951)	[CPS1(1373), ASS1(445), ASL(435), OTC(5009)]
EPISODIC HEMOLYTIC ANEMIA(HP:0004802)	[ABCG8(64241), ABCG5(64240), G6PD(2539)]
EPISODIC HYPERTENSION(HP:0000875)	[RET(5979), KIF1B(23095), SDHD(6392), SDHB(6390), VHL(7428)]
EPISODIC PERIPHERAL NEUROPATHY(HP:0006949)	[FAH(2184)]
EPISODIC SEVERE KETOACIDOSIS(HP:0005983)	[OXCT1(5019)]
EPISODIC VOMITING(HP:0002572)	[SLC25A15(10166), GK(2710), D2HGDH(728294)]
EPISPADIAS(HP:0000039)	[EVC2(132884), EVC(2121)]
EPISTAXIS(HP:0000421)	[GP1BA(2811), P2RY12(64805), TBXAS1(6916), GP9(2815), GGCX(2677), GP1BB(2812), GATA1(2623), HPS5(11234), ITGB3(3690), BLOC1S3(388552), ENG(2022), MYH9(4627), ACVRL1(94), DTNBP1(84062), ITGA2B(3674), HPS3(84343), F11(2160), HPS1(3257), RUNX1(861), VWF(7450), WAS(7454), GBA(2629), HPS4(89781), F10(2159), HPS6(79803), F5(2153)]
EQUINUS DEFORMITY OF THE CALCANEUS(HP:0008138)	[HOXD10(3236)]
ERUPTIVE XANTHOMAS(HP:0001013)	[LIPC(3990), LPL(4023), APOC2(344)]
ERYSIPELAS(HP:0001055)	[MEFV(4210), CCBE1(147372)]
ERYTHROCYTE MACROCYTOSIS(HP:0005518)	[MMADHC(27249), GIF(2694)]
ERYTHROCYTOSIS(HP:0001901)	[FH(2271), EGLN1(54583), DIRC2(84925), PKLR(5313), FLCN(201163), HNF1A(6927), HBA2(3040), HBB(3043), RNF139(11236), VHL(7428), JAK2(3717), CCND1(595), HBA1(3039), ENG(2022), OGG1(4968), CYB5R3(1727), ACVRL1(94)]
ERYTHRODERMA(HP:0001019)	[GTF2H5(404672), SPINK5(11005), ERCC2(2068), RAG2(5897), ERCC3(2071), KRT1(3848), DCLRE1C(64421), RAG1(5896), KRT10(3858)]
ESOPHAGEAL ATRESIA(HP:0002032)	[MYCN(4613), RMRP(6023), ITGB4(3691), SOX2(6657), HOXD13(3239), FGFR2(2263), ITGA6(3655)]
ESOPHAGEAL STRICTURE(HP:0002043)	[NOP10(55505), COL7A1(1294), DKC1(1736), NHP2(55651)]
ESOPHAGEAL VARICES(HP:0002040)	[LIPA(3988), PKHD1(5314), GBE1(2632), ATP7B(540)]
ESOTROPIA(HP:0000565)	[PEX10(5192), PEX5(5830), PEX13(5194), GPR56(9289), ZEB2(9839), SOST(50964), PEX1(5189), GK(2710), COL11A1(1301), GBA(2629), PMM2(5373), PEX26(55670), CRB1(23418)]
ESPECIALLY PRONE TO MALIGNANT MELANOMA(HP:0006777)	[XPC(7508)]
ETHYLMALONIC ACIDURIA(HP:0003219)	[ACADS(35), ETHE1(23474), ETFDH(2110), ETFB(2109), ETFA(2108)]
EUNUCHOID HABITUS(HP:0003782)	[KAL1(3730)]
EUTHYROID GOITER(HP:0009798)	[EYA1(2138)]
EUTHYROID HYPERTHYROXINEMIA(HP:0008247)	[TTR(7276)]
EVENTRATION OF THE RIGHT OR BOTH HEMIDIAPHRAGMS(HP:0009114)	[IGHMBP2(3508)]
EVERTED LOWER LIP(HP:0000232)	[FKRP(79147), POMGNT1(55624), GJA1(2697), EHMT1(79813), RPS6KA3(6197)]
EXAGGERATED CUPID'S BOW UPPER LIP(HP:0002263)	[PCCB(5096), B3GALTL(145173), PCCA(5095)]
EXAGGERATED STARTLE RESPONSE(HP:0002267)	[GPHN(10243), GM2A(2760), SLC6A5(9152), GLRB(2743), HEXA(3073), GLRA1(2741)]
EXCESS NUCHAL SKIN(HP:0000474)	[OFD1(8481), GATA1(2623), DCR(1637)]
EXCESSIVE DAYTIME SLEEPINESS(HP:0002189)	[FKRP(79147), FKTN(2218), LARGE(9215), HCRT(3060), POMT1(10585), POMT2(29954)]
EXCESSIVE PURINE PRODUCTION(HP:0003142)	[PRPS1(5631), PRPS2(5634)]
EXCESSIVE SALIVATION(HP:0003781)	[ATP1A3(478), SPG20(23111), SLC9A6(10479), ATRX(546), VPS13A(23230), ALS2(57679), CRLF1(9244), ZEB2(9839), DLAT(1737), ATP7B(540), MECP2(4204), SLC16A2(6567)]
EXCESSIVE WRINKLED SKIN(HP:0007392)	[MED12(9968), PLOD1(5351), ATP6V0A2(23545), ZNF469(84627), FGFR2(2263)]
EXCESSIVE WRINKLED SKIN (PALMS AND SOLES)(HP:0001016)	[PLOD1(5351), ATP6V0A2(23545), ZNF469(84627), FGFR2(2263)]
EXERCISE INTOLERANCE(HP:0003546)	[PGK1(5230), SDHA(6389), BCS1L(617), POLG(5428), NDUFAF2(91942), NDUFA1(4694), UQCRQ(27089), UQCRB(7381), NDUFAF3(25915), COX6B1(1340), PHKA1(5255), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), C10orf2(56652), NDUFV1(4723), PFKM(5213), NDUFS2(4720), SLC25A4(291), NDUFS6(4726), C20orf7(79133), NDUFS4(4724), FASTKD2(22868), PUS1(80324), LAMP2(3920), SDHAF1(644096), ISCU(23479)]
EXERCISE-INDUCED MUSCLE FATIGUE(HP:0009020)	[SLC16A1(6566)]
EXERCISE-INDUCED MUSCLE STIFFNESS(HP:0008967)	[PHKA1(5255), CAV3(859), SLC16A1(6566)]
EXERCISE-INDUCED MYALGIA(HP:0003738)	[RYR1(6261), TRIM32(22954), PHKA1(5255), PGAM2(5224), ACADVL(37), CAV3(859)]
EXERTIONAL DYSPNEA(HP:0002875)	[COX6B1(1340), FASTKD2(22868)]
EXOCRINE PANCREATIC INSUFFICIENCY(HP:0001738)	[HNF1B(6928), SBDS(51119), PDX1(3651), UBR1(197131)]
EXOPHTHALMOS(HP:0000645)	[FBN1(2200), ABCA12(26154), INSR(3643), KRAS(3845), TGFB1(7040), FLNA(2316), BRAF(673), MAP2K1(5604), MAP2K2(5605), THRB(7068), ATXN3(4287), FAM20C(56975), SH3PXD2B(285590)]
EXOTROPIA(HP:0000577)	[ATRX(546), ACADSB(36), GPR56(9289), BCOR(54880), TBX1(6899), TGFBR1(7046), PHOX2A(401), EFNB1(1947), SLC6A8(6535), PTPN11(5781), SOS1(6654), DGCR(1714), SLC17A5(26503), TUBB3(10381), DPAGT1(1798), COL4A1(1282)]
EXPRESSIVE LANGUAGE DELAY(HP:0002474)	[NSD1(64324)]
EXTERNAL AUDITORY CANAL ATRESIA(HP:0000413)	[FRAS1(80144), FKRP(79147), FKTN(2218), LARGE(9215), TP63(8626), SALL4(57167), FGFR2(2263), FREM2(341640), POMT1(10585), GLI3(2737), POMT2(29954)]
EXTERNAL AUDITORY CANAL EXOSTOSES(HP:0004459)	[CHRNG(1146)]
EXTERNAL OPHTHALMOPLEGIA(HP:0000544)	[ACADS(35), RYR1(6261), SALL4(57167), POLG(5428), C10orf2(56652), MYF6(4618), MTM1(4534), SLC25A4(291), ATXN3(4287), KIF21A(55605), APTX(54840), TYMP(1890), DNM2(1785)]
EXTERNAL OPHTHALMOPLEGIA, PROGRESSIVE (PEO)(HP:0000590)	[SLC25A4(291), TYMP(1890), APTX(54840), POLG(5428), C10orf2(56652)]
EXTERNALLY ROTATED HIPS(HP:0008796)	[ACTB(60)]
EXTERNALLY ROTATED/ABDUCTED LEGS(HP:0003783)	[CRTAP(10491), LEPRE1(64175), ACTB(60)]
EXTRAMEDULLARY ERYTHROPOIESIS(HP:0004847)	[LBR(3930)]
EXTRAMEDULLARY HEMATOPOIESIS(HP:0001978)	[TNFSF11(8600), LBR(3930), CA2(760)]
EXTRAPYRAMIDAL DYSKINESIA(HP:0007308)	[TSEN54(283989)]
EXTRAPYRAMIDAL MUSCULAR RIGIDITY(HP:0007076)	[PRNP(5621)]
EXTRAPYRAMIDAL SIGNS(HP:0002071)	[TH(7054), PRNP(5621), HPRT1(3251), FBXO7(25793), TSEN54(283989), DCAF17(80067), MMACHC(25974), L2HGDH(79944), ATXN7(6314), CP(1356), PSEN1(5663), CLN3(1201), PANK2(80025), ATXN10(25814), ATXN3(4287), TREX1(11277), GAMT(2593), ETHE1(23474), OPA3(80207), ATXN1(6310), FTL(2512)]
EXUDATIVE RETINOPATHY(HP:0007898)	[TINF2(26277)]
EYE POKING(HP:0001483)	[GUCY2D(3000), RPE65(6121)]
EYELID APRAXIA(HP:0000658)	[MAPT(4137)]
EYELID, CLEFT(HP:0000625)	[TCOF1(6949), ESCO2(157570), FRAS1(80144), FREM2(341640)]
FACIAL ASYMMETRY(HP:0000324)	[MYCN(4613), BMP4(652), GNAS(2778), SEPT9(10801), TWIST1(7291), ATR(545), SALL4(57167), PORCN(64840), FGFR2(2263), EFNB1(1947), SEMA3E(9723), OFD1(8481), KCNJ2(3759), SLC12A6(9990), SMS(6611), GDF6(392255), CHD7(55636)]
FACIAL CAPILLARY HEMANGIOMA(HP:0000996)	[ESCO2(157570), OFD1(8481), RECQL4(9401), MGAT2(4247), GLI3(2737)]
FACIAL CLEFT(HP:0002006)	[FRAS1(80144), FREM2(341640)]
FACIAL DIPLEGIA(HP:0001349)	[TK2(7084), ABCA1(19), DMPK(1760), SLC12A6(9990), TPM3(7170)]
FACIAL DYSMORPHISM(HP:0001999)	[FBN1(2200), FKRP(79147), HIBCH(26275), ATRX(546), TGFBR1(7046), CCBE1(147372), HSD17B4(3295), H19(283120), REN(5972), ACE(1636), DCR(1637), KCNQ1OT1(10984), NOG(9241), HRAS(3265), CTSA(5476), GNPTAB(79158), GLB1(2720), CHRNA1(1134), GPC3(2719), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), DDR2(4921), SLC6A8(6535), SLC9A6(10479), GJA1(2697), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), ACTA1(58), CHRNB1(1140), WNT10A(80326), GHR(2690), ATP7A(538), UPF3B(65109), RAPSN(5913), FGFR1(2260), FGFR3(2261), FGFR2(2263), CDKN1C(1028), GNS(2799), FGF3(2248), FGD1(2245), KCNJ2(3759), KCNJ1(3758), GNAS(2778), SMCR(6600), OPHN1(4983), TNNI2(7136), TNNT3(7140), SNAP29(9342), HOXD13(3239), CUL7(9820), GNPTG(84572), ERCC3(2071), GATA1(2623), PRPS1(5631), ERCC6(2074), B4GALT7(11285), BRAF(673), MTM1(4534), SGSH(6448), MAP2K1(5604), MAP2K2(5605), BUB1B(701), SH3BP2(6452), DNMT3B(1789), TCOF1(6949), BMP4(652), AGA(175), BCOR(54880), GALNS(2588), BLM(641), ETFDH(2110), ETFB(2109), ETFA(2108), PRKAR1A(5573), AGTR1(185), AHCY(191), COL1A2(1278), AGL(178), RECQL4(9401), COL1A1(1277), MRPS16(51021), JAG1(182), AGT(183), EHMT1(79813), INSR(3643), ERCC8(1161), MVK(4598), MUSK(4593), ZMPSTE24(10269), PAX3(5077), EYA1(2138), MED12(9968), TRIM37(4591), DYM(54808), HEXB(3074), WNT7A(7476), SHH(6469), HGSNAT(138050), SOST(50964), ROBLD3(28956), CHST14(113189), TFAP2A(7020), GBA(2629), GORAB(92344), LEPRE1(64175), MYCN(4613), GUSB(2990), MYH3(4621), NSD1(64324), PDE11A(50940), PTCH1(5727), GNE(10020), CANT1(124583), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), RAB39B(116442), PEX1(5189), AIP(9049), PEX7(5191), CRH(1392), AP3B1(8546), SLC17A5(26503), RAI1(10743), NAGA(4668), NAGLU(4669), RAB23(51715), PTH1R(5745), MAN2B1(4125), MANBA(4126), LMNA(4000), MECP2(4204), COL11A2(1302), COL11A1(1301), PRPS2(5634), SLC26A2(1836), COL6A1(1291), PHF6(84295), COL6A2(1292), COL6A3(1293), GPC6(10082), IGF1R(3480), COL2A1(1280), FUCA1(2517), PEX26(55670), PQBP1(10084), POMGNT1(55624), SLC37A4(2542), G6PC(2538), PEX3(8504), LIFR(3977), RUNX2(860), EBP(10682), OFD1(8481), CHD7(55636), PEX19(5824), ARSB(411), ABCD3(5825), PEX2(5828), TWIST1(7291), PEX5(5830), RPS6KA3(6197), MGP(4256), FLNA(2316), FLNB(2317), IDS(3423), NF1(4763), SLC35D1(23169), NEU1(4758), FMR1(2332), PKHD1(5314), LBR(3930), CTDP1(9150), HSPG2(3339), NHS(4810), CD96(10225), PTPN11(5781), L1CAM(3897), NPHP3(27031), ADAMTSL2(9719), STAT3(6774), TP63(8626), KRAS(3845), SUMF1(285362), MMACHC(25974), SEMA3E(9723), SSTR5(6755), MMP2(4313), ANTXR2(118429), TPM2(7169), PVRL1(5818)]
FACIAL DYSMORPHISM MAY OCCUR(HP:0004655)	[IGF1R(3480)]
FACIAL EDEMA(HP:0000282)	[NEU1(4758)]
FACIAL ERYTHEMA(HP:0001041)	[AIP(9049)]
FACIAL FLUSHING AFTER ALCOHOL INTAKE(HP:0001033)	[ALDH1A1(216), ALDH2(217)]
FACIAL GRIMACING(HP:0000273)	[PANK2(80025), PNKD(25953)]
FACIAL HEMANGIOMA(HP:0000329)	[ESCO2(157570), CD96(10225), OFD1(8481), RECQL4(9401), MGAT2(4247), GLI3(2737)]
FACIAL HYPERTRICHOSIS(HP:0002219)	[UROD(7389), B3GALTL(145173), RAB3GAP1(22930)]
FACIAL HYPOTONIA(HP:0000297)	[KDM5C(8242), MECP2(4204)]
FACIAL MUSCLE WEAKNESS(HP:0010628)	[TNFSF11(8600), BIN1(274), FKRP(79147), RYR1(6261), DMPK(1760), LARGE(9215), TRIM32(22954), RAPSN(5913), SALL4(57167), SGCB(6443), GJC2(57165), POLG(5428), MUSK(4593), DCTN1(1639), MTM1(4534), MYF6(4618), EYA1(2138), COL6A1(1291), ABCA1(19), COL6A2(1292), TTN(7273), COL6A3(1293), DNM2(1785), ANO5(203859), TCIRG1(10312), NEB(4703), TK2(7084), ANKH(56172), CLCN7(1186), ACADS(35), SEPN1(57190), CLCF1(23529), SOST(50964), MTMR2(8898), SEMA3E(9723), PABPN1(8106), DES(1674), SLC25A4(291), CHRNE(1145), ACTA1(58), SLC12A6(9990), TPM3(7170), CHRNB1(1140), CHD7(55636)]
FACIAL MUSCLE WEAKNESS, LATE(HP:0002259)	[SGCB(6443)]
FACIAL MUSCLE WEAKNESS, MILD(HP:0000353)	[COL6A1(1291), CLCF1(23529), LARGE(9215), COL6A2(1292), COL6A3(1293), ANO5(203859)]
FACIAL MYOKYMIA(HP:0000317)	[PRKCG(5582), SPTBN2(6712)]
FACIAL MYOKYMIA, MILD(HP:0004651)	[SPTBN2(6712)]
FACIAL PALSY, SECONDARY TO CRANIAL HYPEROSTOSIS(HP:0007285)	[SOST(50964)]
FACIAL PARALYSIS DUE TO CRANIAL NERVE VII COMPRESSION(HP:0007209)	[TNFSF11(8600), CLCN7(1186)]
FACIAL TELANGIECTASIA IN BUTTERFLY MIDFACE DISTRIBUTION(HP:0005598)	[BLM(641)]
FACIAL TELANGIECTATIC VESSELS(HP:0007380)	[SLC2A10(81031), BLM(641)]
FACIAL WRINKLING(HP:0009762)	[MED12(9968)]
FACIAL-LINGUAL FASCICULATIONS(HP:0007089)	[ATXN3(4287)]
FACTOR V DEFICIENCY(HP:0003225)	[LMAN1(3998), MCFD2(90411), F5(2153)]
FACTOR VII DEFICIENCY(HP:0008169)	[F7(2155)]
FACTOR VIII DEFICIENCY(HP:0003125)	[LMAN1(3998), F8(2157), MCFD2(90411)]
FACTOR X DEFICIENCY(HP:0008321)	[F10(2159)]
FACTOR XI DEFICIENCY(HP:0001929)	[MPI(4351), ALG6(29929), PMM2(5373)]
FACTOR XII DEFICIENCY(HP:0004841)	[PTPN11(5781), F12(2161)]
FAILURE OF ERUPTION OF PERMANENT TEETH(HP:0006309)	[PTH1R(5745)]
FAILURE TO THRIVE(HP:0001508)	[RET(5979), CPS1(1373), AUH(549), MMAA(166785), SPINK5(11005), NAGS(162417), MYH3(4621), AGPS(8540), VDR(7421), HSD17B4(3295), AVPR2(554), DPM1(8813), MCCC1(56922), GLI3(2737), FAH(2184), SLC7A7(9056), HRAS(3265), COX15(1355), DOLK(22845), SMAD4(4089), UBR1(197131), MC2R(4158), GNPTAB(79158), UQCRB(7381), SEPN1(57190), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), NEUROG3(50674), IL2RG(3561), NUP62(23636), SLC6A8(6535), SURF1(6834), C10orf2(56652), RFX5(5993), RFXAP(5994), C20orf7(79133), MPV17(4358), SLC17A5(26503), SLC12A1(6557), ACTA1(58), ATP8B1(5205), NDUFS7(374291), PRSS1(5644), SNRPN(6638), FH(2271), FGFR1(2260), OCRL(4952), SDHA(6389), MECP2(4204), BCS1L(617), POLG(5428), CYP2R1(120227), COL6A1(1291), COL4A6(1288), NDN(4692), DSP(1832), BSND(7809), CYP27B1(1594), COL6A2(1292), SBDS(51119), NDUFA1(4694), RAG2(5897), COL6A3(1293), NDUFA2(4695), RAG1(5896), FGD1(2245), KCNJ1(3758), CBS(875), PEX26(55670), CYP11B2(1585), C8orf38(137682), TMPRSS15(5651), ADA(100), SLC39A4(55630), COX6B1(1340), NDUFA11(126328), PEX3(8504), NDUFAF4(29078), NDUFS1(4719), EBP(10682), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), HADHB(3032), AQP2(359), CFTR(1080), SNAP29(9342), IGHMBP2(3508), CLDN16(10686), HOXD13(3239), NDUFS6(4726), NDUFS4(4724), FASTKD2(22868), HPD(3242), ZFP57(346171), NDUFS8(4728), CASP8(841), CASR(846), HADHA(3030), SMPD1(6609), SLC25A15(10166), PEX19(5824), ABCD3(5825), PEX2(5828), PEX5(5830), ERCC6(2074), NDUFAF2(91942), BRAF(673), OTC(5009), FLNA(2316), B4GALT7(11285), CIITA(4261), CTNS(1497), MAP2K1(5604), MAP2K2(5605), SOX9(6662), GALT(2592), UQCRQ(27089), PMM2(5373), ABCB11(8647), TCIRG1(10312), DNMT3B(1789), LAMB3(3914), GALC(2581), TCN2(6948), GALE(2582), LAMC2(3918), NDUFAF3(25915), ASS1(445), AKR1D1(6718), CD247(919), ASL(435), DLD(1738), LAMA3(3909), PNPO(55163), LBR(3930), ASAH1(427), NR0B1(190), AHCY(191), GNPAT(8443), JAG1(182), BMPR1A(657), RAB3GAP1(22930), MGAT2(4247), WHCR(7467), CD96(10225), INSR(3643), WHSC1(7468), ST3GAL5(8869), MVK(4598), LMBRD1(55788), MUT(4594), PTPN11(5781), MPI(4351), DGUOK(1716), DHCR7(1717), NME1(4830), ALAD(210), TNDM(7952), SLC5A1(6523), ALG3(10195), MMAB(326625), DCLRE1C(64421), CLCNKB(1188), ALDOB(229), KRAS(3845), RFXANK(8625), MMACHC(25974), PCCB(5096), ANTXR2(118429), GBA(2629), SLC34A3(142680), ALPL(249), PNP(4860), GBE1(2632), MCEE(84693), MTR(4548), PCCA(5095), GCDH(2639)]
FAILURE TO THRIVE IN FIRST YEAR OF LIFE(HP:0008863)	[CTNS(1497)]
FAILURE TO THRIVE IN INFANCY(HP:0001531)	[PTPN11(5781), RET(5979), SNRPN(6638), NDN(4692), CTNS(1497)]
FAILURE TO THRIVE IN SURVIVORS(HP:0008878)	[SOX9(6662)]
FAILURE TO THRIVE SECONDARY TO RECURRENT INFECTIONS(HP:0008866)	[RAG2(5897), RAG1(5896)]
FAIR HAIR(HP:0002294)	[AP3B1(8546), SLC17A5(26503)]
FAIR SKIN(HP:0000984)	[SNRPN(6638), NDN(4692), AP3B1(8546), MITF(4286), TP63(8626)]
FALCIFORM RETINAL FOLDS(HP:0001493)	[FZD4(8322), LRP5(4041)]
FALLS(HP:0002527)	[SNRPN(6638), NDN(4692), MAPT(4137)]
FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843)	[ARHGEF12(23365), PICALM(8301), NSD1(64324), RUNX1(861), GMPS(8833), MLF1(4291), JAK2(3717), FLT3(2322), AMLCR2(9163), NPM1(4869), CEBPA(1050), KIT(3815), MLLT10(8028), SH3GL1(6455), ETV6(2120), LPP(4026), WHSC1L1(54904), NUP214(8021)]
FAMILIAL PREDISPOSITION(HP:0001472)	[DICER1(23405)]
FAMILIAL PROGRESSIVE HYPERPIGMENTATION(HP:0007505)	[KITLG(4254)]
FASCICULATION-LIKE MOVEMENTS(HP:0002468)	[ATXN3(4287), ATXN2(6311)]
FASCICULATIONS(HP:0002380)	[PSAP(5660), SH3TC2(79628), SMN1(6606), ATXN3(4287), HSPB1(3315), C20orf54(113278), TSPYL1(7259), HEXB(3074), SOD1(6647), VAPB(9217), AR(367), ATXN2(6311)]
FASTING HYPOGLYCEMIA(HP:0003162)	[INSR(3643), GYS2(2998), TBX19(9095), SLC1A1(6505), H19(283120)]
FAT MALABSORPTION(HP:0002630)	[SAR1B(51128), PRSS1(5644), LIPA(3988), PEX2(5828), SPINK1(6690), SBDS(51119), PEX1(5189), AKR1D1(6718), MTTP(4547), PEX26(55670)]
FATAL LIVER FAILURE IN INFANCY(HP:0006583)	[NPC1(4864)]
FATTY INFILTRATION OF LIVER(HP:0002252)	[ACADM(34), CBS(875), ETFDH(2110), ETFB(2109), ETFA(2108)]
FATTY KIDNEYS(HP:0000799)	[PCK1(5105), PCK2(5106), EYA1(2138)]
FAVORABLE RESPONSE TO LEVODOPA(HP:0002548)	[TH(7054), LRRK2(120892), POLG(5428), ATP13A2(23400)]
FEBRILE SEIZURES(HP:0002373)	[MBD5(55777), GABRG2(2566), AUH(549), SCN9A(6335), KCNQ2(3785), SCN1A(6323), GPR98(84059)]
FEEDING DIFFICULTIES(HP:0002022)	[FBN1(2200), BIN1(274), CPT1A(1374), FKRP(79147), CHAT(1103), MMAA(166785), DDC(1644), ANCR(282), HSD17B4(3295), AVPR2(554), MCCC1(56922), SLC16A2(6567), IKBKAP(8518), CDKL5(6792), MYH8(4626), CHRNA1(1134), COLQ(8292), UQCRB(7381), ACADS(35), B3GALTL(145173), SLC6A8(6535), C10orf2(56652), SCO2(9997), RAB3GAP2(25782), C20orf7(79133), DBT(1629), MPV17(4358), CHRNE(1145), CHRND(1144), ACTA1(58), CHRNB1(1140), CPT2(1376), SNRPN(6638), RAPSN(5913), MECP2(4204), BCS1L(617), TSFM(10102), NDN(4692), NDUFA1(4694), UBE3A(7337), CYP11B2(1585), NEB(4703), VPS13B(157680), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), LIFR(3977), WNK1(65125), BCKDHA(593), NDUFV1(4723), DPYS(1807), NDUFS2(4720), HADHB(3032), PANK2(80025), BCKDHB(594), AQP2(359), HADH(3033), NDUFS6(4726), CLDN16(10686), NDUFS4(4724), MOGS(7841), SCNN1G(6340), CASR(846), SCNN1A(6337), SCNN1B(6338), SMPD1(6609), CHD7(55636), PAX8(7849), BTD(686), ABCD3(5825), DMPK(1760), PEX2(5828), NDUFAF2(91942), BRAF(673), MAP2K1(5604), MAP2K2(5605), BUB1B(701), ALS2(57679), TREX1(11277), HLCS(3141), UQCRQ(27089), PMM2(5373), NDUFAF3(25915), TSPYL1(7259), DLD(1738), ASL(435), PSAT1(29968), PNPO(55163), MRPS16(51021), RYR1(6261), ST3GAL5(8869), HSPD1(3329), MUSK(4593), LMBRD1(55788), GPHN(10243), DGUOK(1716), DHCR7(1717), MOCS2(4338), MOCS1(4337), MMAB(326625), CLCF1(23529), KRAS(3845), TSEN54(283989), MMACHC(25974), SEMA3E(9723), PCCB(5096), GBA(2629), MTR(4548), PCCA(5095)]
FEEDING PROBLEMS IN INFANCY(HP:0008872)	[SNRPN(6638), RAB3GAP2(25782), NDN(4692), CLCF1(23529)]
FEMALE EXTERNAL GENITALIA IN MALES(HP:0008730)	[AR(367)]
FEMALE INFERTILITY(HP:0008222)	[FOXL2(668), PGR(5241)]
FEMORAL BOWING(HP:0002980)	[FGFR1(2260), COL1A2(1278), POR(5447), GDF5(8200), FGFR2(2263), COL1A1(1277), MMP13(4322), WNT7A(7476), PLOD2(5352), FLNA(2316), LEPRE1(64175)]
FEMORAL BOWING PRESENT AT BIRTH, STRAIGHTENING WITH TIME(HP:0005005)	[COL1A1(1277)]
FETAL ASCITES(HP:0001791)	[NPC2(10577), NPC1(4864), HSD17B4(3295)]
FETAL POLYURIA(HP:0001563)	[BSND(7809), SLC12A1(6557), CLCNKB(1188), KCNJ1(3758)]
FEVER(HP:0001945)	[ATP1A3(478), PRNP(5621), PRSS1(5644), ATP1A2(477), RAPSN(5913), SCN1A(6323), NGF(4803), HSPD1(3329), AVPR2(554), HMGCL(3155), EIF2B2(8892), EIF2B5(8893), IKBKAP(8518), MEFV(4210), EIF2B4(8890), EIF2B3(8891), NME1(4830), TREX1(11277), TNFRSF1A(7132), KCNJ1(3758), EIF2B1(1967), CFH(3075), CYP11B2(1585), NTRK1(4914), NLRP3(114548), LIFR(3977), GABRG2(2566), AQP2(359), CACNA1A(773), ADAMTS13(11093), SPINK1(6690), SLC12A1(6557), ALPL(249), GAA(2548), KCNQ2(3785), COL1A1(1277)]
FEVER, EPISODIC(HP:0001954)	[IKBKAP(8518), MEFV(4210), NTRK1(4914), NLRP3(114548), NGF(4803), LIFR(3977), CYP11B2(1585)]
FEVER, EPISODIC, SEVERE(HP:0004903)	[NTRK1(4914)]
FIBROMA(HP:0010614)	[AKT1(207), TWIST1(7291), PIK3CA(5290), FGFR2(2263), CTNNB1(1499), CDKN2A(1029), DHCR24(1718), BRIP1(83990), SOS1(6654), SLC22A18(5002), STK11(6794), NF1(4763), PTCH1(5727), MEN1(4221), MSH2(4436), MLH1(4292), TIMP2(7077), KRAS(3845), PTEN(5728), TSC1(7248), TSC2(7249), NF2(4771), ANTXR2(118429), RB1CC1(9821), RAD54L(8438), TP53(7157), PPM1D(8493)]
FIBROUS DYSPLASIA OF THE CORNEA(HP:0007771)	[MCOLN1(57192)]
FIBULAR APLASIA(HP:0002990)	[FAM123B(139285), TBX15(6913), LMBR1(64327), GDF5(8200), WNT7A(7476), SHOX(6473), BMPR1B(658), FLNA(2316), FLNB(2317)]
FIBULAR HYPOPLASIA(HP:0003038)	[SOX9(6662), FAM123B(139285), ATR(545), GPC6(10082), GDF5(8200)]
FIBULAR OVERGROWTH(HP:0003099)	[PAPSS2(9060), IHH(3549), CANT1(124583)]
FIFTH DIGIT MIDDLE OR DISTAL PHALANGEAL HYPOPLASIA(HP:0006171)	[H19(283120)]
FIFTH FINGER DISTAL PHALANX CLINODACTYLY(HP:0005769)	[GJA1(2697)]
FIFTH TOE CLINODACTYLY(HP:0001864)	[SALL1(6299), KCNJ2(3759)]
FINE HAIR(HP:0002213)	[SMARCAL1(50485), GJB6(10804), TRPS1(7227), TP63(8626), DCAF17(80067), EDARADD(128178), EDA(1896), MED12(9968), IKBKG(8517), RMRP(6023), SLC7A7(9056), GJA1(2697), CBS(875), SUOX(6821), EDAR(10913), MSX1(4487)]
FINE PUNCTATE CORNEAL OPACITIES(HP:0007856)	[KRT3(3850), KRT12(3859)]
FINE, BRITTLE HAIR(HP:0002299)	[EDA(1896), CBS(875)]
FINE, BRITTLE, SLOW-GROWING HAIR(HP:0004767)	[GJB6(10804)]
FINE, RETICULATE SKIN PIGMENTATION(HP:0007617)	[TINF2(26277)]
FINE, SLOW-GROWING HAIR(HP:0004781)	[EDAR(10913), EDARADD(128178)]
FINE, SPARSE, LIGHT-COLORED HAIR(HP:0004538)	[RMRP(6023)]
FINGER AND WRIST CONTRACTURES(HP:0006137)	[FLNA(2316)]
FINGER JOINT HYPEREXTENSIBILITY(HP:0006158)	[FGD1(2245)]
FINGER JOINT HYPERMOBILITY(HP:0006094)	[COL6A1(1291), COL6A2(1292), COL6A3(1293), FGD1(2245)]
FINGER SYNDACTYLY(HP:0006101)	[FRAS1(80144), SALL1(6299), GPC3(2719), SOST(50964), CCBE1(147372), FGFR1(2260), FGFR3(2261), IRF6(3664), LMBR1(64327), FGFR2(2263), GLI3(2737), FGF10(2255), NOG(9241), HOXD13(3239), FREM2(341640), WNT7A(7476), PVRL1(5818)]
FINGERPAD TELANGIECTASES(HP:0006107)	[ENG(2022), ACVRL1(94)]
FIRM MUSCLES(HP:0003725)	[GAA(2548)]
FIRST DORSAL INTEROSSEI MUSCLE ATROPHY(HP:0003426)	[BSCL2(26580), GARS(2617)]
FIRST DORSAL INTEROSSEI MUSCLE WEAKNESS(HP:0003392)	[BSCL2(26580), GARS(2617)]
FISHNET RETINAL PIGMENTATION(HP:0007801)	[IDS(3423), RHO(6010), IMPDH1(3614), BEST1(7439), RP1(6101), RP9(6100)]
FIXED ELBOW FLEXION(HP:0006471)	[CHST3(9469)]
FLACCID WEAKNESS OR PARALYSIS, EPISODIC ATTACKS(HP:0003752)	[CACNA1S(779)]
FLARED FEMURS AND HUMERI(HP:0002834)	[TRPV4(59341)]
FLARED ILIAC WINGS(HP:0002869)	[GPC3(2719), GNPTG(84572), MMP13(4322), DDR2(4921), GNPTAB(79158), GLB1(2720)]
FLARED IRREGULAR METAPHYSES(HP:0000945)	[NSD1(64324), FGFR3(2261), TFAP2A(7020), LIFR(3977)]
FLARED NOSTRILS(HP:0000454)	[PDHA1(5160)]
FLARED, IRREGULAR RIB ENDS(HP:0006603)	[MMP13(4322)]
FLARING OF LOWER RIB CAGE(HP:0006589)	[RMRP(6023)]
FLARING OF RIB CAGE(HP:0000904)	[LBR(3930), RMRP(6023), PTCH1(5727), GALNS(2588), COL2A1(1280), MMP13(4322), GLB1(2720)]
FLAT ACETABULAR ROOFS(HP:0003180)	[TRPV4(59341), MATN3(4148), DYM(54808), SLC35D1(23169), FLNB(2317), CANT1(124583)]
FLAT CAPITAL FEMORAL EPIPHYSES(HP:0003370)	[SLC26A2(1836), TRPS1(7227), TBX4(9496), GNPTG(84572), COL2A1(1280), ACAN(176)]
FLAT GLENOID FOSSA(HP:0000911)	[DYM(54808)]
FLAT NASAL TIP(HP:0000437)	[MYCN(4613), DOK7(285489), RAPSN(5913), TP63(8626)]
FLAT NOSE(HP:0000457)	[CHRNA1(1134), PEX2(5828), CHRNG(1146), CHRND(1144), PEX1(5189), MAN2B1(4125), PEX26(55670), GLB1(2720)]
FLAT OVAL-SHAPED VERTEBRAL BODIES(HP:0004559)	[MATN3(4148)]
FLAT PHILTRUM(HP:0000319)	[ADAMTSL2(9719), TRPS1(7227), MID1(4281), KDM5C(8242), AP3B1(8546), CCBE1(147372), SEC23A(10484), GNE(10020), IGF1R(3480), MMACHC(25974), PAX3(5077), GLI3(2737)]
FLAT, BROAD NASAL BRIDGE(HP:0000439)	[FOXL2(668), ALG3(10195), DHCR7(1717), GPC3(2719), ATRX(546), CCBE1(147372)]
FLAT, IRREGULAR ACETABULA(HP:0008832)	[TRPV4(59341)]
FLAT, IRREGULAR EPIPHYSES(HP:0004982)	[COL9A2(1298)]
FLAT, IRREGULAR FEMORAL EPIPHYSES(HP:0006412)	[COL2A1(1280)]
FLAT, WIDE CAPITAL FEMORAL EPIPHYSES(HP:0008784)	[TBX4(9496)]
FLATTENED EPIPHYSES(HP:0003071)	[WISP3(8838), COL2A1(1280), MMP13(4322), EIF2AK3(9451)]
FLATTENED FEMORAL EPIPHYSES(HP:0008811)	[HSPG2(3339)]
FLATTENED FOREHEAD(HP:0004425)	[RECQL4(9401), LRP5(4041)]
FLATTENED METATARSAL AND METACARPAL HEADS(HP:0005194)	[PRG4(10216), IHH(3549)]
FLATTENED NASAL BRIDGE(HP:0000425)	[FBN1(2200), PLOD1(5351), ATRX(546), TGIF1(7050), ARSE(415), CCBE1(147372), NSD1(64324), MGP(4256), HSD17B4(3295), DPM1(8813), EDARADD(128178), BRAF(673), FLNA(2316), GLI3(2737), FLNB(2317), MAP2K1(5604), EDA(1896), MAP2K2(5605), SOX9(6662), BUB1B(701), HRAS(3265), CRLF1(9244), ADAMTS10(81794), PMM2(5373), DNMT3B(1789), GPC3(2719), TMEM216(51259), DYNC2H1(79659), LRP2(4036), TSHB(7252), DDR2(4921), ETFDH(2110), ETFB(2109), ETFA(2108), FOXL2(668), ACOX1(51), LBR(3930), POR(5447), AGL(178), NAGA(4668), RAB23(51715), FH(2271), FGFR1(2260), FGFR2(2263), MECP2(4204), COL11A2(1302), COL11A1(1301), SLC26A2(1836), DHCR7(1717), GPC6(10082), COL2A1(1280), FREM2(341640), EDAR(10913), SMARCAL1(50485), FRAS1(80144), TBCE(6905), ALG3(10195), TRIP11(9321), HYAL1(3373), KRAS(3845), NIPBL(25836), TFAP2A(7020), EIF2AK3(9451), GBA(2629), CUL7(9820)]
FLATTENED NASAL TIP(HP:0005279)	[TGIF1(7050)]
FLATTENED OR ABSENT ELECTRORETINOGRAM(HP:0007845)	[ACOX1(51)]
FLATTENED, ENLARGED EPIPHYSES(HP:0005082)	[WISP3(8838)]
FLATTENED, SQUARED-OFF EPIPHYSES OF TUBULAR BONES(HP:0006172)	[COL2A1(1280)]
FLATTENING AND ANTERIOR BEAKING OF VERTEBRAL BODIES(HP:0004569)	[AGA(175)]
FLATTENING OF THE TALAR DOME(HP:0008144)	[PHEX(5251)]
FLESHY EARLOBES(HP:0009748)	[ZEB2(9839), FGD1(2245)]
FLESHY UPTURNED LOBULES(HP:0009764)	[ZEB2(9839)]
FLEXION CONTRACTURES OF FINGERS AND TOES(HP:0005651)	[NOD2(64127)]
FLEXION CONTRACTURES OF THE TOES(HP:0008128)	[LIFR(3977)]
FLUCTUATING HEPATOMEGALY(HP:0006564)	[MVK(4598)]
FLUCTUATING SPLENOMEGALY(HP:0006268)	[MVK(4598)]
FLUCTUATIONS IN CONSCIOUSNESS(HP:0007159)	[SNCA(6622), SNCB(6620)]
FOAM CELLS CONTAIN POLYMORPHIC CYTOPLASMIC INCLUSIONS CONSISTING OF LAMELLAR OSMIOPHILIC MEMBRANES ON ELECTRON MICROSCOPY(HP:0003650)	[NPC2(10577), NPC1(4864)]
FOAM CELLS IN VISCERAL ORGANS AND CNS(HP:0003640)	[NPC2(10577), NPC1(4864)]
FOAM CELLS ON BONE MARROW BIOPSY(HP:0004333)	[LIPA(3988), NPC2(10577), NPC1(4864), NEU1(4758), SMPD1(6609)]
FOCAL CLONIC SEIZURES(HP:0002266)	[GABRG2(2566), KCNQ2(3785), SCN1A(6323), KCNQ3(3786)]
FOCAL DYSTONIA(HP:0004373)	[ARX(170302), SGCE(8910), PRKCG(5582), DRD2(1813), TOR1A(1861)]
FOCAL GLOMERULOSCLEROSIS(HP:0004747)	[CLCN5(1184)]
FOCAL SEGMENTAL GLOMERULOSCLEROSIS(HP:0000097)	[PLCE1(51196), SMARCAL1(50485), SLC37A4(2542), SLC17A3(10786), G6PC(2538), WT1(7490)]
FOCAL WHITE MATTER LESIONS(HP:0007042)	[TSC1(7248)]
FOLATE-DEPENDENT FRAGILE SITE AT XQ28(HP:0003564)	[FMR1(2332)]
FOLATE-RESPONSIVE MEGALOBLASTIC ANEMIA(HP:0004851)	[SLC46A1(113235)]
FOLLICULAR HYPERKERATOSIS(HP:0007502)	[KRT16(3868), KRT6A(3853)]
FOLLICULAR THYROID CARCINOMA(HP:0006731)	[MINPP1(9562), NRAS(4893), PTEN(5728)]
FOOT DORSIFLEXOR WEAKNESS(HP:0009027)	[LBR(3930)]
FOOT DROP(HP:0003377)	[SBF2(81846), MFN2(9927), LYST(1130), LMNA(4000), HSPB1(3315), KIF1B(23095), NEFL(4747), PRX(57716), TRPV4(59341), CRYAB(1410), EGR2(1959), MPZ(4359), RAB7A(7879), GDAP1(54332), TCAP(8557), PMP22(5376)]
FORAMEN MAGNUM STENOSIS(HP:0005468)	[FGFR3(2261)]
FOREARM REDUCTION DEFECTS(HP:0006368)	[RECQL4(9401)]
FOREHEAD HYPERPIGMENTATION(HP:0005336)	[SEC23A(10484)]
FORGETFULNESS(HP:0000747)	[TREX1(11277), MAPT(4137)]
FOVEAL HYPOPLASIA(HP:0007750)	[TYR(7299), PAX6(5080), MITF(4286), CACNA1F(778)]
FRACTURES OF THE LONG BONES(HP:0003084)	[CLCN7(1186), SQSTM1(8878), TNFRSF11A(8792)]
FRAGILE NAILS(HP:0001808)	[LAMB3(3914), LAMC2(3918), ERCC2(2068), ERCC3(2071), COL17A1(1308), SLURP1(57152), EFNB1(1947), LAMA3(3909), ITGB4(3691), GTF2H5(404672), DLX3(1747), HRAS(3265), KRT14(3861)]
FRAGILE SKIN(HP:0001030)	[FERMT1(55612), COL5A2(1290), COL5A1(1289), COL7A1(1294), COL1A1(1277), COL3A1(1281), PLEC(5339), ADAMTS2(9509)]
FRAGMENTED, IRREGULAR EPIPHYSES(HP:0005063)	[COMP(1311)]
FRAYED, IRREGULAR METAPHYSES(HP:0003017)	[CLCN5(1184), PHEX(5251), CYP27B1(1594), SLC34A3(142680), VDR(7421), CYP2R1(120227)]
FRECKLES IN SUN-EXPOSED AREAS(HP:0007603)	[BLOC1S3(388552), OCA2(4948), HPS3(84343), HPS4(89781), HPS5(11234), HPS1(3257), HPS6(79803), DTNBP1(84062)]
FRECKLING(HP:0001480)	[DDB2(1643), MSH2(4436), MSH6(2956), ERCC2(2068), ERCC3(2071), OCA2(4948), HPS3(84343), MLH1(4292), TP63(8626), PMS2(5395), HPS5(11234), ERCC6(2074), HPS1(3257), POLH(5429), PRKAR1A(5573), BLOC1S3(388552), NF1(4763), HPS4(89781), XPC(7508), XPA(7507), HPS6(79803), DTNBP1(84062)]
FRENULAR ABNORMALITY(HP:0000190)	[CD96(10225), B3GALTL(145173)]
FREQUENT BACTERIAL, FUNGAL AND VIRAL INFECTIONS(HP:0005380)	[RFX5(5993), RFXAP(5994), RFXANK(8625), IL2RG(3561), CIITA(4261)]
FREQUENT BACTERIAL, VIRAL, AND OPPORTUNISTIC INFECTIONS(HP:0005390)	[PNP(4860)]
FREQUENT BACTERIAL, VIRAL, PROTOZOAN, AND FUNGAL INFECTIONS(HP:0005386)	[RFX5(5993), RFXAP(5994), RFXANK(8625), CIITA(4261)]
FREQUENT CANDIDA INFECTIONS(HP:0005401)	[SLC39A4(55630)]
FREQUENT FALLS(HP:0002359)	[GPHN(10243), FKRP(79147), SLC6A5(9152), GLRB(2743), GLRA1(2741), NEB(4703)]
FREQUENT OPPORTUNISTIC INFECTIONS(HP:0005426)	[RAG2(5897), RAG1(5896)]
FREQUENT PYOGENIC INFECTIONS(HP:0005355)	[RAB27A(5873)]
FREQUENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0001740)	[SGSH(6448), ARSB(411), HGSNAT(138050), GNS(2799), GALNS(2588), NAGLU(4669), GLB1(2720)]
FREQUENT VENOUS INSUFFICIENCY(HP:0005293)	[TTR(7276)]
FRONTAL AND OCCIPITAL PROMINENCE(HP:0004489)	[CTSK(1513)]
FRONTAL BALDING (MALE PATTERN BALDNESS)(HP:0002292)	[CNBP(7555), DMPK(1760)]
FRONTAL BOSSING(HP:0002007)	[FBN1(2200), FBN2(2201), NPR2(4882), MYH3(4621), CCBE1(147372), NSD1(64324), VDR(7421), HSD17B4(3295), H19(283120), EDARADD(128178), GLI3(2737), EDA(1896), PTCH1(5727), GNE(10020), GLB1(2720), DYNC2H1(79659), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), SEC23A(10484), PEX7(5191), B3GALTL(145173), ROR2(4920), DDR2(4921), ACOX1(51), GJA1(2697), CREBBP(1387), POR(5447), CPT2(1376), MAN2B1(4125), ATP7A(538), ACTB(60), FH(2271), PDHA1(5160), UPF3B(65109), FGFR1(2260), FGFR3(2261), INPP5E(56623), FGFR2(2263), CYP2R1(120227), PRPS2(5634), FGF10(2255), CYP27B1(1594), IGBP1(3476), GPC6(10082), KCNJ2(3759), KCNJ1(3758), FUCA1(2517), EDAR(10913), PEX26(55670), TBCE(6905), OPHN1(4983), PEX3(8504), LIFR(3977), RUNX2(860), EBP(10682), ZFPM2(23414), OFD1(8481), FAM123B(139285), CUL7(9820), PEX19(5824), EP300(2033), PLOD1(5351), PLA2G6(8398), ABCD3(5825), PEX2(5828), TWIST1(7291), PEX5(5830), PRPS1(5631), BRAF(673), FLNA(2316), FLNB(2317), CTNS(1497), MAP2K1(5604), MAP2K2(5605), MID1(4281), SOX9(6662), BUB1B(701), SOX2(6657), MAPK10(5602), PMM2(5373), NKX2-5(1482), TCIRG1(10312), FMR1(2332), BMP4(652), LRPPRC(10128), D2HGDH(728294), ETFDH(2110), ETFB(2109), ETFA(2108), LBR(3930), DLX3(1747), GNPAT(8443), RECQL4(9401), COL1A1(1277), CTSK(1513), JAG1(182), WHCR(7467), CD96(10225), WHSC1(7468), ATIC(471), MED12(9968), DHCR24(1718), TRIM37(4591), GDF1(2657), PHEX(5251), STAT3(6774), SOST(50964), TP63(8626), KRAS(3845), TFAP2B(7021), EFNB1(1947), MMACHC(25974), ATP6V0A2(23545), MMP2(4313), SLC34A3(142680), ALPL(249)]
FRONTAL CUTANEOUS LIPOMA(HP:0007541)	[ALX3(257)]
FRONTAL ENCEPHALOCELE(HP:0007330)	[ESCO2(157570)]
FRONTAL HAIR UPSWEEP(HP:0002236)	[MED12(9968), EP300(2033), SNRPN(6638), NDN(4692), CREBBP(1387), UBR1(197131)]
FRONTAL LOBE DEMENTIA(HP:0000727)	[PSEN1(5663), TREM2(54209), TBP(6908), TYROBP(7305), MAPT(4137)]
FRONTAL RELEASE REFLEXES(HP:0006911)	[CHMP2B(25978)]
FRONTAL RELEASE SIGNS(HP:0000743)	[CHMP2B(25978), TBP(6908), MAPT(4137)]
FRONTOLIMBIC DEMENTIA(HP:0002439)	[MAPT(4137)]
FRONTOPARIETAL CORTICAL DYSPLASIA(HP:0006930)	[TUBB2B(347733)]
FRONTOTEMPORAL DEMENTIA(HP:0002145)	[VCP(7415), CHMP2B(25978), PSEN1(5663), GRN(2896), MAPT(4137)]
FRUCTOSE INTOLERANCE(HP:0005973)	[ALDOB(229)]
FULL CHEEKS(HP:0000293)	[PCCB(5096), HSPG2(3339), GNAS(2778), LMNA(4000), CRLF1(9244), SH3PXD2B(285590), PCCA(5095)]
FULL FOREHEAD(HP:0000333)	[MYH3(4621), GLB1(2720)]
FULL LIPS(HP:0000170)	[IDS(3423), RET(5979), AGA(175), INSR(3643), ATRX(546), HRAS(3265), GBA(2629), CUL7(9820), NAGA(4668), FUCA1(2517), COL11A1(1301)]
FULMINANT HEPATIC FAILURE(HP:0004448)	[HADH(3033), GFM1(85476), SH2D1A(4068)]
FULMINANT HEPATITIS(HP:0004787)	[SH2D1A(4068)]
FUNCTIONAL ABNORMALITY OF MALE INTERNAL GENITALIA(HP:0000025)	[CNBP(7555), LHB(3972), CFTR(1080), F13A1(2162), GNRH1(2796), DAZ1(1617), AR(367), BLM(641), HFE(3077), SYCP3(50511)]
FUNCTIONAL ABNORMALITY OF THE BLADDER(HP:0000009)	[ARSA(410), PRNP(5621), CLDN19(149461), ATL1(51062), AUH(549), ATRX(546), SACS(26278), CCBE1(147372), SALL4(57167), SPG7(6687), KIAA0196(9897), SPAST(6683), CIITA(4261), ATXN3(4287), HMBS(3145), ATXN1(6310), NIPA1(123606), SALL1(6299), SPG11(80208), KIF5A(3798), CFI(3426), RFX5(5993), SLC9A6(10479), RFXAP(5994), VANGL1(81839), DBH(1621), ZFYVE26(23503), WFS1(7466), CD96(10225), NBN(4683), HSPD1(3329), CYP7B1(9420), PAX2(5076), EYA1(2138), PSAP(5660), PINK1(65018), ATXN10(25814), TREM2(54209), HOXA13(3209), SLC5A2(6524), HEXB(3074), ABCD1(215), CHMP2B(25978), TBP(6908), TP63(8626), RFXANK(8625), NIPBL(25836), PANK2(80025), HOXD13(3239), CLDN16(10686), IGHMBP2(3508), TYROBP(7305), MNX1(3110), NOTCH3(4854)]
FUNCTIONAL MOTOR PROBLEMS.(HP:0004302)	[VCP(7415), SH3TC2(79628), PGK1(5230), FKRP(79147), SETX(23064), GLRB(2743), VDR(7421), GLRA1(2741), CAPN3(825), FLNC(2318), NDUFAF2(91942), TGFB1(7040), MYF6(4618), UQCRQ(27089), DNM2(1785), POMT1(10585), UQCRB(7381), SBF2(81846), CHRNA1(1134), COLQ(8292), PLEKHG5(57449), NKX2-1(7080), NDUFAF3(25915), DYSF(8291), VMA21(203547), C10orf2(56652), PFKM(5213), SLC25A4(291), C20orf7(79133), CHRNE(1145), CHRND(1144), SLC6A5(9152), PUS1(80324), LAMP2(3920), CHRNB1(1140), TCAP(8557), ISCU(23479), LMNA(4000), RAPSN(5913), SDHA(6389), BCS1L(617), POLG(5428), MUSK(4593), CYP2R1(120227), GPHN(10243), SPG20(23111), CYP27B1(1594), NDUFA1(4694), NEB(4703), COX6B1(1340), PHKA1(5255), WISP3(8838), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), NDUFV1(4723), NDUFS2(4720), NDUFS6(4726), DOK7(285489), NDUFS4(4724), FASTKD2(22868), SLC34A3(142680), AGRN(375790), SDHAF1(644096)]
FUNCTIONAL RESPIRATORY ABNORMALITY(HP:0002795)	[FBN1(2200), FKRP(79147), SUCLG1(8802), FBP1(2203), CHAT(1103), CPOX(1371), DCTN1(1639), SCN2A(6326), MCCC1(56922), EDA(1896), IKBKAP(8518), SLC7A7(9056), NPHS1(4868), HRAS(3265), THPO(7066), COX15(1355), MYH7(4625), MATR3(9782), COLQ(8292), TK2(7084), CHRNA1(1134), SEPN1(57190), SLC25A20(788), NKX2-1(7080), TMEM216(51259), ACADSB(36), CRTAP(10491), ACADVL(37), PEX7(5191), PTEN(5728), SURF1(6834), SCO2(9997), MPL(4352), MPZ(4359), C20orf7(79133), GJA1(2697), CHRNG(1146), CHRNE(1145), SEC63(11231), CHRND(1144), KCNQ2(3785), ACTA1(58), CHRNB1(1140), CPT2(1376), NDUFS7(374291), SNRPN(6638), PDHA1(5160), RAPSN(5913), FGFR3(2261), INPP5E(56623), SDHA(6389), HBB(3043), BCS1L(617), MECP2(4204), POLG(5428), TSFM(10102), PSAP(5660), SLC26A2(1836), COL6A1(1291), NDN(4692), CYP27A1(1593), NDUFA1(4694), COL6A2(1292), RAG2(5897), NDUFA2(4695), COL6A3(1293), RAG1(5896), ACVRL1(94), NEB(4703), C8orf38(137682), ACVR1(90), SMN1(6606), UBA1(7317), COX6B1(1340), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), NIPBL(25836), BCHE(590), LIFR(3977), JAK2(3717), NDUFS3(4722), TRPV4(59341), GM2A(2760), NDUFV1(4723), NDUFS2(4720), HADHB(3032), IGHMBP2(3508), FAM123B(139285), NDUFS6(4726), HBA1(3039), NDUFS4(4724), FASTKD2(22868), MOGS(7841), CUL7(9820), GAA(2548), NDUFS8(4728), CASR(846), HADHA(3030), ERBB3(2065), PRNP(5621), ABCD3(5825), BTD(686), PLOD1(5351), PEX2(5828), OXCT1(5019), SFTPB(6439), STRA6(64220), SLC34A2(10568), FLNC(2318), NDUFAF2(91942), FLNA(2316), MTM1(4534), IDS(3423), MID1(4281), SOX9(6662), TMEM67(91147), NPC2(10577), HMBS(3145), ENG(2022), TREX1(11277), HLCS(3141), PLEKHG5(57449), PRKCSH(5589), NDUFAF3(25915), TSPYL1(7259), D2HGDH(728294), DLD(1738), CYB5A(1528), LAMA3(3909), CTSD(1509), INVS(27130), ASAH1(427), AGXT(189), C20orf54(113278), COL1A1(1277), DMD(1756), PLEC(5339), RYR1(6261), HSPD1(3329), CEP290(80184), MUSK(4593), PRKAG2(51422), CRYAB(1410), EGR2(1959), AHI1(54806), HEXA(3073), CYB5R3(1727), ALAD(210), ALDH7A1(501), PCCB(5096), SERPINA1(5265), GBA(2629), ALPL(249), VRK1(7443), TPM3(7170), PCCA(5095)]
FUNDUS ATROPHY(HP:0001099)	[GUCY2D(3000), RPE65(6121)]
FUNGAL INFECTIONS, RECURRENT(HP:0002841)	[AIRE(326), NCF2(4688), RFX5(5993), RFXAP(5994), NCF1(653361), SLC39A4(55630), CARD9(64170), CYBA(1535), RFXANK(8625), IL2RG(3561), CYBB(1536), CIITA(4261)]
FURROWED TONGUE(HP:0000221)	[KDM5C(8242), PTEN(5728), GJB2(2706)]
FUSED CERVICAL VERTEBRAE(HP:0002949)	[NOG(9241), CHRNG(1146), SALL4(57167), FGFR2(2263), GDF6(392255), FLNA(2316), FLNB(2317), ACVR1(90)]
FUSED LABIA MINORA(HP:0000063)	[FGFR1(2260), ATIC(471), FGFR2(2263)]
FUSED STERNAL OSSIFICATION CENTERS(HP:0006643)	[CD96(10225)]
FUSION OF CARPAL BONES(HP:0005048)	[FGFR2(2263), FLNA(2316)]
FUSION OF CERVICAL VERTEBRAE, MOST OFTEN C2-3(HP:0004636)	[GDF6(392255)]
FUSION OF MIDDLE EAR OSSICLES(HP:0005473)	[TFAP2A(7020)]
FUSION OF MIDPHALANGEAL JOINTS(HP:0006187)	[NOG(9241)]
GAIT ABNORMALITIES MAY OCCUR(HP:0006953)	[NKX2-1(7080), PABPN1(8106)]
GAIT ATAXIA(HP:0002066)	[TH(7054), PRNP(5621), OPHN1(4983), TBP(6908), ITPR1(3708), SACS(26278), SETX(23064), MECP2(4204), SPG7(6687), POLG(5428), PDP1(54704), SPTBN2(6712), C10orf2(56652), FGF14(2259), PSAP(5660), CUL4B(8450), KCNC3(3748), ATXN10(25814), MPZ(4359), BEAN(146227), PRKCG(5582), APTX(54840), PMP22(5376), MAN2B1(4125)]
GAIT ATAXIA, PROGRESSIVE(HP:0002142)	[SACS(26278), SETX(23064), POLG(5428), C10orf2(56652)]
GAIT DISTURBANCE(HP:0001288)	[TH(7054), VCP(7415), SH3TC2(79628), FKRP(79147), SUCLG1(8802), BBS5(129880), SACS(26278), SETX(23064), GAN(8139), ANCR(282), MAPT(4137), VDR(7421), CAPN3(825), DCTN1(1639), TGFB1(7040), SLC16A2(6567), NOG(9241), CDKL5(6792), MYH7(4625), MATN3(4148), RAB7A(7879), GNE(10020), BBS9(27241), GLB1(2720), SBF2(81846), TK2(7084), LYST(1130), NKX2-1(7080), KIF1B(23095), HSPB1(3315), C10orf2(56652), FKTN(2218), SLC9A6(10479), MPZ(4359), SLC17A5(26503), CREBBP(1387), PTH1R(5745), TCAP(8557), DBH(1621), MAN2B1(4125), ATP7A(538), MKKS(8195), SNRPN(6638), UCHL1(7345), COMP(1311), LMNA(4000), GPR56(9289), NDRG1(10397), EVC2(132884), COL9A2(1298), MECP2(4204), BBS12(166379), POLG(5428), NHLRC1(378884), PDP1(54704), CYP2R1(120227), FGF14(2259), PSAP(5660), SPG20(23111), CUL4B(8450), KCNC3(3748), PSEN1(5663), NDN(4692), ATXN10(25814), CYP27B1(1594), TREM2(54209), COL2A1(1280), UBE3A(7337), TTC8(123016), NEB(4703), BSCL2(26580), BBS1(582), OPHN1(4983), BBS2(583), TBP(6908), ATCAY(85300), BBS4(585), PABPN1(8106), EBP(10682), BBS10(79738), KDM5C(8242), PANK2(80025), BBS7(55212), DOK7(285489), AGRN(375790), TYROBP(7305), PMP22(5376), SMS(6611), HSD17B10(3028), PRNP(5621), ARSA(410), EP300(2033), LARGE(9215), TRIM32(22954), NEFL(4747), ITPR1(3708), ARL6(84100), PRPS1(5631), SGCA(6442), SPG7(6687), FLNC(2318), FLNA(2316), BUB1B(701), MTHFR(4524), TTN(7273), POMT1(10585), PLEKHG5(57449), SPG11(80208), EMD(2010), FGD4(121512), SPTBN2(6712), PRX(57716), MKS1(54903), PRKCG(5582), PLG(5340), PDHX(8050), DMD(1756), POMT2(29954), ATP1A3(478), CD96(10225), ERCC8(1161), CEP290(80184), MMP13(4322), EIF2B2(8892), EIF2B5(8893), EGR2(1959), DHCR7(1717), L1CAM(3897), PARK2(5071), EIF2B4(8890), EIF2B3(8891), BEAN(146227), DYM(54808), EIF2B1(1967), GDAP1(54332), EPM2A(7957), NPHP3(27031), EVC(2121), SMARCAL1(50485), CHMP2B(25978), MFN2(9927), VLDLR(7436), WISP3(8838), HYLS1(219844), CLN3(1201), MMP2(4313), PDE8B(8622), ALPL(249), SLC34A3(142680), CHST3(9469), APTX(54840), NOTCH3(4854)]
GAIT IMBALANCE(HP:0002141)	[MKKS(8195), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), ARL6(84100), BBS4(585), MAPT(4137), CEP290(80184), BBS12(166379), BBS10(79738), MKS1(54903), BBS7(55212), BBS9(27241), TTC8(123016)]
GALACTOSE INTOLERANCE(HP:0004919)	[GALE(2582), GALT(2592), GALK1(2584)]
GALLBLADDER DYSFUNCTION(HP:0005609)	[ARSA(410)]
GANGLIONEUROBLASTOMA(HP:0006747)	[NME1(4830)]
GANGLIONEUROMA(HP:0003005)	[RET(5979), NME1(4830), PTEN(5728)]
GAP BETWEEN FIRST AND SECOND TOES(HP:0001852)	[SLC26A2(1836), LBR(3930), TBX4(9496), ATR(545), SALL4(57167), FLNA(2316), FLNB(2317)]
GASTRIC ULCER(HP:0002592)	[APOA1(335)]
GASTRITIS(HP:0005263)	[AIRE(326), ERBB2(2064), APC(324), IRF1(3659), PIK3CA(5290), CASP10(843), FGFR2(2263), KRAS(3845), KLF6(1316), CDH1(999), MUTYH(4595)]
GASTROESOPHAGEAL REFLUX(HP:0002020)	[FBN1(2200), WHCR(7467), SALL1(6299), ATRX(546), WHSC1(7468), DDC(1644), TSPYL1(7259), KRAS(3845), MECP2(4204), NIPBL(25836), TFAP2A(7020), BRAF(673), MAP2K1(5604), WNK1(65125), MAP2K2(5605), IKBKAP(8518), MID1(4281), DHCR7(1717), NPHS1(4868), MAPK10(5602), MCEE(84693)]
GASTROINTESTINAL ANGIODYSPLASIA(HP:0000471)	[VWF(7450), ENG(2022), ACVRL1(94)]
GASTROINTESTINAL ARTERIOVENOUS MALFORMATION(HP:0002629)	[ENG(2022), ACVRL1(94)]
GASTROINTESTINAL CARCINOMA(HP:0002672)	[MSH2(4436), STK11(6794), MLH1(4292)]
GASTROINTESTINAL DYSMOTILITY(HP:0002579)	[DHCR7(1717), TYMP(1890), POLG(5428)]
GASTROINTESTINAL HEMORRHAGE(HP:0002239)	[PLOD1(5351), TBXAS1(6916), ITGA2B(3674), ABCC6(368), HPS3(84343), HPS5(11234), ALDOB(229), HPS1(3257), VWF(7450), ITGB3(3690), JAK2(3717), FAH(2184), WAS(7454), BLOC1S3(388552), STK11(6794), MYH9(4627), ENG(2022), HPS4(89781), F9(2158), ACVRL1(94), HPS6(79803), DTNBP1(84062)]
GASTROINTESTINAL INFECTIONS(HP:0004798)	[AICDA(57379)]
GASTROINTESTINAL INFLAMMATORY DISORDER(HP:0004386)	[RET(5979), WAS(7454), BLOC1S3(388552), L1CAM(3897), HPS3(84343), HPS4(89781), PHOX2B(8929), HPS5(11234), HPS1(3257), HPS6(79803), DTNBP1(84062), GDNF(2668)]
GASTROINTESTINAL OBSTRUCTION(HP:0004796)	[GTF2H5(404672), ERCC2(2068), ERCC3(2071), MNX1(3110), FLNA(2316)]
GASTROINTESTINAL REFLUX(HP:0004793)	[ATRX(546)]
GASTROINTESTINAL TRACT TUMORS(HP:0007378)	[EP300(2033), AKT1(207), FLCN(201163), SDHD(6392), PIK3CA(5290), NSD1(64324), NRAS(4893), CDKN1C(1028), CDKN2A(1029), H19(283120), CTNNB1(1499), PDGFRL(5157), FAH(2184), KCNQ1OT1(10984), APC(324), BUB1B(701), HRAS(3265), HMBS(3145), SLC17A3(10786), STK11(6794), SMAD4(4089), MLH3(27030), HFE(3077), MET(4233), MSH2(4436), SLC37A4(2542), AFP(174), PTPRJ(5795), G6PC(2538), MLH1(4292), UROD(7389), SERPINA1(5265), CASP8(841), JAG1(182), TP53(7157), AXIN2(8313), BMPR1A(657), AXIN1(8312)]
GASTROPARESIS(HP:0002578)	[TYMP(1890), POLG(5428), C10orf2(56652)]
GASTROSCHISIS(HP:0001543)	[WNT3(7473)]
GAZE-EVOKED HORIZONTAL NYSTAGMUS(HP:0007979)	[BEAN(146227)]
GAZE-EVOKED NYSTAGMUS(HP:0000640)	[CACNA1A(773), ATXN3(4287), BEAN(146227), TBP(6908), SETX(23064), APTX(54840), ATXN2(6311), FGF14(2259)]
GENERALIZED ABNORMALITY OF THE BONE MARROW(HP:0005561)	[LBR(3930), TBXAS1(6916), IVD(3712), TGFB1(7040)]
GENERALIZED AMINOACIDURIA(HP:0002909)	[DGUOK(1716), MPV17(4358), CYP27B1(1594), SLC2A2(6514), ETFDH(2110), ETFB(2109), ETFA(2108), C10orf2(56652), CTNS(1497)]
GENERALIZED AMYLOID DEPOSITION(HP:0003216)	[TTR(7276), LYZ(4069), GSN(2934), APOA1(335), FGA(2243), CST3(1471)]
GENERALIZED AMYOPLASIA(HP:0003634)	[TRPV4(59341), CHRNA1(1134), CHRNG(1146), CHRND(1144)]
GENERALIZED AMYOTROPHY(HP:0003700)	[BIN1(274), COL6A1(1291), SEPN1(57190), MYH7(4625), COL6A2(1292), ACADSB(36), COL6A3(1293), PUS1(80324), NAGA(4668), POLG(5428), SLC16A2(6567)]
GENERALIZED BRUISING TENDENCY(HP:0007472)	[PLEC(5339)]
GENERALIZED CEREBRAL HYPOPLASIA/ATROPHY(HP:0007058)	[HSD17B4(3295)]
GENERALIZED DISTAL TUBULAR ACIDOSIS(HP:0004916)	[FN1(2335)]
GENERALIZED DYSTONIA(HP:0007325)	[SUOX(6821)]
GENERALIZED EDEMA(HP:0007430)	[UBR1(197131)]
GENERALIZED HIRSUTISM(HP:0002230)	[HSPG2(3339), GNE(10020)]
GENERALIZED HYPERTRICHOSIS(HP:0004554)	[INSR(3643)]
GENERALIZED HYPOTONIA(HP:0001290)	[MED12(9968), PLOD1(5351), FKRP(79147), BUB1B(701), DHCR7(1717), POMGNT1(55624), SLC12A6(9990), MGAT2(4247), GLI3(2737)]
GENERALIZED HYPOTONIA DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003397)	[CHAT(1103)]
GENERALIZED JOINT LAXITY(HP:0002761)	[COMP(1311), FGFR3(2261)]
GENERALIZED LIMB MUSCLE ATROPHY(HP:0009055)	[PUS1(80324)]
GENERALIZED LIPODYSTROPHY(HP:0009064)	[ZMPSTE24(10269)]
GENERALIZED MORNING STIFFNESS(HP:0005197)	[PRG4(10216)]
GENERALIZED MUSCLE ATROPHY, PROXIMAL AND DISTAL(HP:0003788)	[MYH7(4625)]
GENERALIZED MUSCLE HYPERTROPHY(HP:0003720)	[ZEB2(9839)]
GENERALIZED MUSCLE WEAKNESS(HP:0003324)	[PLA2G6(8398), FKRP(79147), SNRPN(6638), LMNA(4000), RAPSN(5913), SETX(23064), FGF23(8074), MUSK(4593), MTM1(4534), RMRP(6023), NDN(4692), MYH7(4625), TTN(7273), FAM126A(84668), ALS2(57679), KCNJ2(3759), KCNJ1(3758), MATR3(9782), HCRT(3060), NEB(4703), COLQ(8292), CHRNA1(1134), NIPA1(123606), POMGNT1(55624), CLCNKB(1188), EMD(2010), TRPV4(59341), HADHB(3032), SLC25A4(291), SLC12A3(6559), CHRNE(1145), SLC12A1(6557), CHRND(1144), ACTA1(58), CHRNB1(1140), TPM3(7170), AR(367), HADHA(3030), CACNA1S(779)]
GENERALIZED MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003428)	[CHRNA1(1134), CHRNE(1145), CHRND(1144), RAPSN(5913), CHRNB1(1140), MUSK(4593)]
GENERALIZED MUSCLE WEAKNESS, PROXIMAL AND DISTAL(HP:0003723)	[MYH7(4625)]
GENERALIZED MUSCULAR APPEARANCE FROM BIRTH(HP:0003716)	[BSCL2(26580), AGPAT2(10555)]
GENERALIZED OSTEOPOROSIS WITH PATHOLOGIC FRACTURES(HP:0005744)	[LMNA(4000)]
GENERALIZED OSTEOSCLEROSIS(HP:0005711)	[PEX19(5824), TNFSF11(8600), ABCD3(5825), TBXAS1(6916), SQSTM1(8878), PEX2(5828), ENPP1(5167), ARSE(415), PEX5(5830), GGCX(2677), ERCC8(1161), AGPS(8540), MGP(4256), HSD17B4(3295), ERCC6(2074), FLNA(2316), TGFB1(7040), DHCR24(1718), CA2(760), THRB(7068), LEMD3(23592), FAM20C(56975), DYM(54808), NSDHL(50814), NEU1(4758), ANO5(203859), PEX26(55670), CLCN7(1186), TBCE(6905), PEX10(5192), PEX14(5195), SOST(50964), PEX13(5194), PEX1(5189), PEX7(5191), LRP5(4041), PEX3(8504), SUMF1(285362), DDR2(4921), RUNX2(860), EBP(10682), LBR(3930), DLX3(1747), GNPAT(8443), TNFRSF11A(8792), CTSK(1513), DMP1(1758)]
GENERALIZED SEBORRHEIC DERMATITIS(HP:0007569)	[C5(727)]
GENERALIZED SEIZURES(HP:0002197)	[LGI1(9211), ATP1A2(477), SCN9A(6335), SCN1A(6323), ST3GAL5(8869), SCARB2(950), NHLRC1(378884), SCN2A(6326), BUB1B(701), CSTB(1476), CLN8(2055), CRLF1(9244), ATP6AP2(10159), GPR98(84059), EPM2A(7957), ASPA(443), ALDH7A1(501), LBR(3930), GABRG2(2566), PCDH19(57526), SLC9A6(10479), KCNMA1(3778), GJA1(2697), KCNQ2(3785), ALDH5A1(7915), KCNQ3(3786)]
GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069)	[LGI1(9211), ATP1A2(477), SCN9A(6335), SCN1A(6323), ST3GAL5(8869), ALDH7A1(501), NHLRC1(378884), SCN2A(6326), LBR(3930), SLC9A6(10479), PCDH19(57526), CSTB(1476), KCNMA1(3778), BUB1B(701), GJA1(2697), CLN8(2055), ATP6AP2(10159), KCNQ2(3785), ALDH5A1(7915), EPM2A(7957), GPR98(84059), KCNQ3(3786)]
GENERALIZED WEAKNESS OF LIMB MUSCLES(HP:0009028)	[RAPSN(5913)]
GENETIC ANTICIPATION(HP:0003743)	[ATXN7(6314), ATN1(1822), CACNA1A(773), ATXN10(25814), ATXN3(4287), ATXN1(6310), ATXN2(6311), SPTBN2(6712), SPAST(6683)]
GENITAL ATRESIA(HP:0001827)	[MKKS(8195), FRAS1(80144), RET(5979), UPK3A(7380), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), FGFR1(2260), ARL6(84100), BBS4(585), FGFR2(2263), CEP290(80184), BBS12(166379), MKS1(54903), BBS10(79738), BBS7(55212), WNT3(7473), FREM2(341640), BBS9(27241), TTC8(123016)]
GENITAL FUNCTIONAL ABNORMALITY(HP:0000080)	[DMPK(1760), ATRX(546), ARSE(415), BBS5(129880), ERCC2(2068), STS(412), TRIM32(22954), ERCC3(2071), PROK2(60675), NELF(26012), ARL6(84100), PROP1(5626), SOX2(6657), COQ2(27235), FANCD2(2177), FANCC(2176), PMM2(5373), FANCE(2178), BBS9(27241), SYCP3(50511), BLM(641), DCAF17(80067), MKS1(54903), GTF2H5(404672), RAB3GAP2(25782), KISS1R(84634), NR0B1(190), DAZ1(1617), SIL1(64374), RECQL4(9401), PROKR2(128674), BMPR1B(658), CTDP1(9150), MKKS(8195), SNRPN(6638), LMNB1(4001), ATM(472), ERCC8(1161), FGFR1(2260), TAC3(6866), CEP290(80184), BCS1L(617), BBS12(166379), POLG(5428), TACR3(6870), AIRE(326), PDSS2(57107), CUL4B(8450), NDN(4692), WRN(7486), GNRH1(2796), PDSS1(23590), HEXB(3074), ABCD1(215), HFE(3077), TTC8(123016), CNBP(7555), LHCGR(3973), COQ9(57017), GNAS(2778), LHB(3972), ALG1(56052), SLC39A4(55630), F13A1(2162), KAL1(3730), BBS1(582), BBS2(583), TP63(8626), FANCA(2175), BBS4(585), PCSK1(5122), SEMA3E(9723), BBS10(79738), CFTR(1080), BBS7(55212), ALMS1(7840), APTX(54840), AR(367), CHD7(55636), CABC1(56997)]
GENITAL HYPOPLASIA(HP:0003241)	[DCX(1641), ATRX(546), BBS5(129880), ERCC2(2068), TGM1(7051), TRIM32(22954), PROK2(60675), NELF(26012), ARL6(84100), TBX3(6926), ERCC6(2074), DNAJC19(131118), GLI3(2737), BUB1B(701), SOX2(6657), UBR1(197131), BBS9(27241), BMP4(652), TMEM216(51259), DKC1(1736), IRF6(3664), SRD5A2(6716), B3GALTL(145173), ROR2(4920), DCAF17(80067), MKS1(54903), RAB3GAP2(25782), KISS1R(84634), POR(5447), RAB3GAP1(22930), HSPG2(3339), MKKS(8195), SNRPN(6638), HCCS(3052), ERCC8(1161), FGFR1(2260), INPP5E(56623), FGFR2(2263), TAC3(6866), CEP290(80184), BBS12(166379), TACR3(6870), PTPN11(5781), CUL4B(8450), DHCR7(1717), NDN(4692), PHF6(84295), HOXA13(3209), FREM2(341640), WNT7A(7476), PQBP1(10084), TTC8(123016), PHGDH(26227), CYP11B1(1584), FRAS1(80144), LHCGR(3973), TBCE(6905), UBA1(7317), SLC39A4(55630), F13A1(2162), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), TP63(8626), BBS4(585), PORCN(64840), ALOXE3(59344), SEMA3E(9723), NIPBL(25836), BBS10(79738), KDM5C(8242), OFD1(8481), BBS7(55212), CUL7(9820), AR(367), ALOX12B(242), CHD7(55636)]
GENITAL NEOPLASIA(HP:0010787)	[SRY(6736), EP300(2033), AKT1(207), FH(2271), PTPRJ(5795), FLCN(201163), PIK3CA(5290), NSD1(64324), NRAS(4893), CDKN1C(1028), WT1(7490), CTNNB1(1499), H19(283120), PDGFRL(5157), KCNQ1OT1(10984), APC(324), BUB1B(701), DHH(50846), PTCH1(5727), MLH3(27030), AXIN2(8313), TP53(7157)]
GENITAL ULCERS(HP:0003249)	[DCLRE1C(64421)]
GENITOURINARY ABNORMALITY(HP:0000119)	[FBN1(2200), FKRP(79147), VPS33B(26276), SACS(26278), CCBE1(147372), HSD17B3(3293), HSD17B4(3295), H19(283120), DNAJC19(131118), KCNQ1OT1(10984), FAH(2184), HRAS(3265), COQ2(27235), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), PPARG(5468), B3GALTL(145173), FKTN(2218), SLC12A3(6559), CHRNG(1146), SLC12A1(6557), POR(5447), SNRPN(6638), FH(2271), ZEB2(9839), FGFR1(2260), FGFR3(2261), CDKN1B(1027), FGFR2(2263), BBS12(166379), POLG(5428), CDKN1C(1028), CDKN2A(1029), FGF10(2255), SOS1(6654), CECR(1055), POLA1(5422), HOXA13(3209), FGD1(2245), FGA(2243), FOXC2(2303), CNBP(7555), HPRT1(3251), ADA(100), SMCR(6600), HPS1(3257), ALOXE3(59344), CFTR(1080), HOXD13(3239), FASTKD2(22868), CUL7(9820), SMS(6611), PRNP(5621), ERBB3(2065), ERCC2(2068), TRIM32(22954), ERCC3(2071), ERCC4(2072), PRPS1(5631), STRA6(64220), ERCC6(2074), PRODH(5625), KIAA0196(9897), MTM1(4534), PROP1(5626), MAP2K1(5604), MAP2K2(5605), TMEM67(91147), BLOC1S3(388552), HMBS(3145), SYCP3(50511), PRKCSH(5589), AGA(175), SPG11(80208), AFP(174), XDH(7498), SOX18(54345), WT2(7491), ETFDH(2110), WT1(7490), ETFB(2109), ETFA(2108), AGTR1(185), KISS1R(84634), NR0B1(190), AGXT(189), COL1A2(1278), WNT4(54361), COL1A1(1277), JAG1(182), AGT(183), RAB3GAP1(22930), WHCR(7467), WFS1(7466), WHSC1(7468), ERCC8(1161), CEP290(80184), EYA1(2138), MUT(4594), EIF2B2(8892), MED12(9968), EIF2B5(8893), HGD(3081), TRIM37(4591), SLC3A1(6519), EIF2B4(8890), WRN(7486), SLC2A2(6514), SLC17A3(10786), EIF2B3(8891), SLC5A2(6524), WNT3(7473), PRCC(5546), HEXB(3074), CFH(3075), ABCD1(215), WNT7A(7476), HFE(3077), EVC(2121), SLC4A1(6521), PHGDH(26227), SMARCAL1(50485), FRAS1(80144), SHH(6469), CLCN5(1184), F13A1(2162), CLCNKB(1188), FANCA(2175), ALDOB(229), SI(6476), VHL(7428), PPP1R3A(5506), VWF(7450), WAS(7454), ALPL(249), F10(2159), MNX1(3110), ALOX12B(242), LEPRE1(64175), F5(2153), PGK1(5230), PGAM2(5224), NSD1(64324), HPS5(11234), SLC6A19(340024), RNF139(11236), FERMT1(55612), AMBP(259), ESCO2(157570), SLC7A7(9056), GNE(10020), ATXN1(6310), ATXN2(6311), AMH(268), AMHR2(269), SC5DL(6309), UQCRB(7381), UPK3A(7380), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), AIP(9049), DCAF17(80067), FSHB(2488), FSHR(2492), SLC17A5(26503), SEC63(11231), CREBBP(1387), UMPS(7372), SIL1(64374), UNG(7374), CPT2(1376), UMOD(7369), MAN2B1(4125), SLC6A20(54716), SDHD(6392), SDHB(6390), INPP5E(56623), MECP2(4204), AIRE(326), COL5A2(1290), COL4A6(1288), COL5A1(1289), MEFV(4210), SPATA16(83893), GPC6(10082), APOA1(335), PDSS1(23590), COL2A1(1280), COL3A1(1281), COL4A4(1286), COL4A5(1287), PQBP1(10084), PEX26(55670), TTC8(123016), COL4A3(1285), BSCL2(26580), LMNB2(84823), SLC37A4(2542), UBA1(7317), SLC39A4(55630), ABCC6(368), COX6B1(1340), G6PC(2538), PCSK1(5122), SLC7A9(11136), AQP2(359), PANK2(80025), IGHMBP2(3508), APRT(353), SCNN1G(6340), TYROBP(7305), AR(367), SCNN1A(6337), CHD7(55636), SCNN1B(6338), ARSA(410), ARSB(411), PLOD1(5351), DIRC2(84925), ARSE(415), LARGE(9215), STS(412), RPS6KA3(6197), FLNA(2316), PLOD2(5352), CIITA(4261), FLNB(2317), CTNS(1497), IDS(3423), MID1(4281), TTR(7276), ATXN3(4287), FLT4(2324), AASS(10157), PMM2(5373), FN1(2335), FMR1(2332), PKHD1(5314), TSPYL1(7259), TSC1(7248), TSC2(7249), CFI(3426), ASAH1(427), ADAMTS13(11093), ARX(170302), MBTPS2(51360), SLC6A5(9152), PLG(5340), PLEC(5339), CTDP1(9150), HSPG2(3339), CD96(10225), ATM(472), ATIC(471), HSPD1(3329), PKD2(5311), PKD1(5310), MOCS2(4338), MOCS1(4337), PITX2(5308), PHEX(5251), DCLRE1C(64421), HYLS1(219844), HPS4(89781), TPM2(7169), FXYD2(486), PLCE1(51196), RET(5979), AUH(549), DCX(1641), ATRX(546), TGM1(7051), PROK2(60675), ATR(545), GLRB(2743), GLRA1(2741), AVPR2(554), ACE(1636), REN(5972), GLI3(2737), NPHS1(4868), KIT(3815), NPHP1(4867), USP9Y(8287), RPGRIP1L(23322), GLB1(2720), GLA(2717), GPC3(2719), DYNC2H1(79659), KIF5A(3798), MRPS22(56945), CRTAP(10491), SEC23A(10484), ATP6V1B1(525), ROR2(4920), RFX5(5993), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), RFXAP(5994), GJA1(2697), DAZ1(1617), VANGL1(81839), FST(10468), ATP7B(540), PROKR2(128674), DBH(1621), ATP7A(538), GHR(2690), NPHP4(261734), GP1BA(2811), CYP11A1(1583), MKKS(8195), GP9(2815), GP1BB(2812), RAPSN(5913), OCRL(4952), BCS1L(617), FGF23(8074), ATXN10(25814), SBDS(51119), GNRH1(2796), KCNJ1(3758), CYP21A2(1589), CYP19A1(1588), CYP17A1(1586), CYP11B2(1585), DTNBP1(84062), CYP11B1(1584), GNAS(2778), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), BBS4(585), NIPBL(25836), BBS10(79738), CCND1(595), KDM5C(8242), FAM123B(139285), DOK7(285489), OGG1(4968), TP53(7157), AMN(81693), DMPK(1760), TBXAS1(6916), ATL1(51062), EFEMP2(30008), TBX15(6913), ARL6(84100), HNF1A(6927), TBX3(6926), BRCA2(675), BRAF(673), ITGB3(3690), ITGB4(3691), BUB1B(701), HNF1B(6928), GALT(2592), CUBN(8029), KL(9365), BTK(695), TCOF1(6949), BMP4(652), ITGA2B(3674), GRHPR(9380), BCOR(54880), GALNS(2588), DKC1(1736), IRF6(3664), GALNT3(2591), BLM(641), FOXL2(668), MKS1(54903), SLC22A12(116085), RECQL4(9401), HPS6(79803), BMPR1B(658), ITGA6(3655), POMT2(29954), ZFYVE26(23503), INSR(3643), FLCN(201163), INSL3(3640), NLRP7(199713), CYP7B1(9420), PAX3(5077), ZMPSTE24(10269), PAX2(5076), DHCR24(1718), GPHN(10243), DHCR7(1717), DGCR(1714), RXFP2(122042), AHI1(54806), C1R(715), COQ9(57017), ALG1(56052), PCNT(5116), C3(718), PCK1(5105), PCK2(5106), TFAP2A(7020), EIF2AK3(9451), GATA3(2625), ATP6V0A2(23545), C4A(720), APTX(54840), PC(5091), CABC1(56997), CLDN19(149461), GUSB(2990), LYZ(4069), BBS5(129880), MYH3(4621), NELF(26012), SALL4(57167), IKBKAP(8518), STK11(6794), MYH9(4627), AURKC(6795), PTCH1(5727), NIPA1(123606), KIF1B(23095), LRP2(4036), PTEN(5728), RAI1(10743), RAB23(51715), PTH1R(5745), ADAMTS2(9509), LMNB1(4001), HCCS(3052), LMNA(4000), NPHS2(7827), EVC2(132884), LOX(4015), HBB(3043), NBN(4683), TAC3(6866), TACR3(6870), LMX1B(4010), PRPS2(5634), PSAP(5660), SLC26A2(1836), PDSS2(57107), CUL4B(8450), NDN(4692), PHF6(84295), DSP(1832), PRTN3(5657), BSND(7809), TREM2(54209), CBS(875), GOPC(57120), TBCE(6905), LHCGR(3973), LHB(3972), TBP(6908), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), EBP(10682), OFD1(8481), BBS7(55212), CLDN16(10686), ALMS1(7840), DHH(50846), CASP10(843), CXCR4(7852), CASR(846), PEX19(5824), ABCD3(5825), EP300(2033), SLC4A4(8671), PEX2(5828), PEX5(5830), SCARB2(950), SPG7(6687), PYGM(5837), SPAST(6683), SOX9(6662), SOX2(6657), NF1(4763), UQCRQ(27089), NSDHL(50814), NEU1(4758), POMT1(10585), SLC36A2(153201), LPIN1(23175), LAMB2(3913), ELN(2006), SRD5A2(6716), IQCB1(9657), LCAT(3931), INVS(27130), SRY(6736), DNAI1(27019), CDC73(79577), PTPN11(5781), PINK1(65018), FBLN5(10516), GSN(2934), EIF2B1(1967), NPHP3(27031), FREM2(341640), STAR(6770), CHMP2B(25978), NLRP3(114548), TP63(8626), KRAS(3845), RFXANK(8625), SEMA3E(9723), EFNB1(1947), MMACHC(25974), SSTR5(6755), PNP(4860), SLC34A3(142680), AGPAT2(10555), NOTCH3(4854)]
GENITOURINARY TRACT NEOPLASIA(HP:0007379)	[SRY(6736), EP300(2033), AKT1(207), FH(2271), DIRC2(84925), FLCN(201163), HNF1A(6927), PIK3CA(5290), SDHB(6390), FGFR3(2261), NSD1(64324), CDC73(79577), NRAS(4893), BRCA2(675), CDKN1C(1028), CDKN2A(1029), H19(283120), CTNNB1(1499), PDGFRL(5157), RNF139(11236), KCNQ1OT1(10984), APC(324), TRIM37(4591), BUB1B(701), HRAS(3265), PTCH1(5727), PRCC(5546), MLH3(27030), FN1(2335), MSH2(4436), GPC3(2719), PTPRJ(5795), MLH1(4292), KRAS(3845), PTEN(5728), WT2(7491), TSC1(7248), WT1(7490), TSC2(7249), VHL(7428), CCND1(595), DHH(50846), RB1(5925), OGG1(4968), TP53(7157), AXIN2(8313), ATP7A(538)]
GENU RECURVATUM(HP:0002816)	[CTDP1(9150), FBN1(2200), COL1A2(1278)]
GENU VALGUM(HP:0002857)	[FBN1(2200), TNFSF11(8600), ARSB(411), EXT2(2132), ATRX(546), COMP(1311), EXT1(2131), EVC2(132884), NSD1(64324), OCRL(4952), TGFB1(7040), FLNA(2316), CTNS(1497), NF1(4763), MATN3(4148), PAPSS2(9060), DYM(54808), COL2A1(1280), EVC(2121), GLB1(2720), VPS13B(157680), GALNS(2588), EIF2AK3(9451), GNPTG(84572), CHST3(9469), ACAN(176), RAB23(51715), ATP7A(538)]
GENU VARUM(HP:0002970)	[FBN1(2200), NPR2(4882), PCNT(5116), TNFRSF11B(4982), FGFR1(2260), WISP3(8838), FGFR3(2261), MMP13(4322), FLNA(2316), EIF2AK3(9451), LIFR(3977), FLNB(2317), B2M(567), MKS1(54903), PAPSS2(9060), RPGRIP1L(23322), DYM(54808), SH3PXD2B(285590), PPIB(5479), ACAN(176), MATR3(9782), IHH(3549), ANO5(203859), MAN2B1(4125)]
GENU VARUS(HP:0003052)	[FBN1(2200), NPR2(4882), PCNT(5116), TNFRSF11B(4982), FGFR1(2260), FGFR3(2261), FLNA(2316), EIF2AK3(9451), LIFR(3977), FLNB(2317), B2M(567), MKS1(54903), RMRP(6023), RPGRIP1L(23322), SH3PXD2B(285590), PPIB(5479), MATR3(9782), ANO5(203859), MAN2B1(4125)]
GIANT MELANOSOMES IN MELANOCYTES(HP:0005592)	[LYST(1130)]
GIANT PLATELETS(HP:0001902)	[LBR(3930), MYH9(4627), CD36(948)]
GIANT SOMATOSENSORY EVOKED POTENTIALS(HP:0001312)	[FKRP(79147), CD96(10225), LARGE(9215), EVC2(132884), HYLS1(219844), EBP(10682), FKTN(2218), MKS1(54903), DHCR7(1717), BUB1B(701), PLG(5340), NPHP3(27031), POMT1(10585), EVC(2121), POMT2(29954)]
GINGIVAL BLEEDING(HP:0000225)	[ITGB3(3690), GP1BA(2811), ITGA2B(3674), BLOC1S3(388552), HPS3(84343), HPS4(89781), HPS5(11234), F10(2159), HPS1(3257), HPS6(79803), DTNBP1(84062), ADAMTS2(9509)]
GINGIVAL FIBROMATOSIS(HP:0000169)	[DHCR24(1718), SOS1(6654), ANTXR2(118429), TSC1(7248), TSC2(7249)]
GINGIVAL HYPERKERATOSIS(HP:0000222)	[ADAMTS2(9509)]
GINGIVAL HYPERPLASIA(HP:0000212)	[LBR(3930), INSR(3643), MAPK10(5602), FAM20C(56975), PLG(5340), ROR2(4920), GLB1(2720), ADAMTS2(9509)]
GINGIVAL HYPERTROPHY(HP:0000195)	[MMP2(4313), ANTXR2(118429), SLC17A5(26503), CCBE1(147372), MAN2B1(4125), MGAT2(4247), SC5DL(6309)]
GINGIVITIS(HP:0000230)	[ITGB2(3689), CD40LG(959), LYST(1130), ALMS1(7840), SAMD9(54809)]
GLABELLAR ABNORMALITY(HP:0002056)	[WHCR(7467), WHSC1(7468)]
GLABELLAR HEMANGIOMA(HP:0001076)	[SLC26A2(1836)]
GLANDULAR HYPOSPADIAS(HP:0000807)	[HOXA13(3209)]
GLANZMANN THROMBASTHENIA(HP:0001975)	[ITGB3(3690), ITGA2B(3674)]
GLAUCOMA(HP:0000501)	[FBN1(2200), PEX19(5824), PLOD1(5351), FKRP(79147), ARSB(411), EP300(2033), SLC4A4(8671), LARGE(9215), BBS5(129880), TWIST1(7291), TRIM32(22954), PEX5(5830), ARL6(84100), CCBE1(147372), NF1(4763), MYH9(4627), ADAMTS10(81794), POMT1(10585), BBS9(27241), SBF2(81846), OPTN(10133), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), MYOC(4653), B3GALTL(145173), VSX1(30813), MKS1(54903), FKTN(2218), GJA1(2697), CREBBP(1387), RECQL4(9401), POMT2(29954), MKKS(8195), NHS(4810), PAX6(5080), OCRL(4952), CEP290(80184), FGFR2(2263), BBS12(166379), COL11A1(1301), LMX1B(4010), SH3PXD2B(285590), COL2A1(1280), CBS(875), TTC8(123016), PEX26(55670), PITX2(5308), POMGNT1(55624), BEST1(7439), CYP1B1(1545), BBS1(582), VCAN(1462), FOXC1(2296), BBS2(583), BBS4(585), PEX3(8504), EBP(10682), BBS10(79738), BBS7(55212)]
GLENOID HYPOPLASIA(HP:0006633)	[LMX1B(4010)]
GLIOMA(HP:0009733)	[ERBB2(2064), MSH2(4436), APC(324), MSH6(2956), NF1(4763), MLH1(4292), PMS2(5395), NBN(4683), PTEN(5728), TSC1(7248), NF2(4771), TSC2(7249)]
GLIOSIS(HP:0002171)	[PRNP(5621), NDUFS7(374291), PLA2G6(8398), PDHA1(5160), MAPT(4137), SDHA(6389), HSD17B4(3295), BCS1L(617), POLG(5428), DCTN1(1639), HTT(3064), LRRK2(120892), ATXN3(4287), COX15(1355), PARK2(5071), NDUFA2(4695), TREM2(54209), C8orf38(137682), LRPPRC(10128), TBP(6908), DLD(1738), ETFDH(2110), SURF1(6834), ETFB(2109), ETFA(2108), NDUFS3(4722), SCO2(9997), NDUFV1(4723), NDUFS4(4724), VRK1(7443), TYROBP(7305), NDUFS8(4728)]
GLOBAL DEVELOPMENTAL DELAY, SEVERE(HP:0007228)	[DPM1(8813)]
GLOBAL GLOMERULOSCLEROSIS(HP:0004737)	[BSND(7809), CLCNKB(1188)]
GLOBE RETRACTION AND DEVIATION ON ADDUCTION(HP:0001109)	[SALL4(57167)]
GLOMERULONEPHRITIS(HP:0000099)	[LMNB2(84823), PRTN3(5657), SBDS(51119), C3(718), C4A(720), CFH(3075), CFI(3426), LMX1B(4010)]
GLOMERULOSCLEROSIS(HP:0000096)	[PLCE1(51196), SMARCAL1(50485), COQ9(57017), CLCN5(1184), SLC37A4(2542), CLCNKB(1188), G6PC(2538), WT1(7490), PDSS2(57107), FAH(2184), IKBKAP(8518), BSND(7809), SLC17A3(10786), COQ2(27235), PDSS1(23590), APTX(54840), CABC1(56997)]
GLOMUS JUGULAR TUMORS(HP:0003001)	[SDHD(6392), SDHC(6391), SDHB(6390), SDHAF2(54949)]
GLOSSITIS(HP:0000206)	[LMBRD1(55788)]
GLUCOCORTICOID INSUFFICIENCY(HP:0000874)	[AAAS(8086), NR0B1(190)]
GLUCOSE INTOLERANCE(HP:0000833)	[LMNA(4000), HNF1B(6928), ATM(472), AIP(9049), ZMPSTE24(10269)]
GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY(HP:0003568)	[GPI(2821), G6PD(2539)]
GLUTARIC ACIDEMIA(HP:0003530)	[ETFDH(2110), ETFB(2109), ETFA(2108)]
GLUTARIC ACIDURIA(HP:0003150)	[ETFDH(2110), ETFB(2109), GCDH(2639), ETFA(2108)]
GLUTATHIONE SYNTHETASE DEFICIENCY(HP:0003343)	[GSS(2937)]
GLYCINURIA(HP:0002931)	[SLC6A20(54716), PRODH(5625), SLC36A2(153201), SLC6A19(340024), ALDH4A1(8659)]
GLYCOSURIA(HP:0003076)	[CLCN5(1184), COX6B1(1340), ALDOB(229), ETFDH(2110), ETFB(2109), CTNS(1497), ETFA(2108), SLC2A2(6514), FASTKD2(22868), HNF1B(6928), SLC5A2(6524), ATP7B(540), SLC5A1(6523)]
GLYOXALASE DEFICIENCY(HP:0003258)	[GSS(2937), HAGH(3029)]
GM2-GANGLIOSIDE ACCUMULATION(HP:0003495)	[GM2A(2760), HEXA(3073)]
GOITER(HP:0000853)	[RET(5979), NKX2-1(7080), TSHR(7253), SLC5A5(6528), PTEN(5728), EYA1(2138), IYD(389434), DUOXA2(405753), THRB(7068), ALMS1(7840), TPO(7173), SLC26A4(5172), TG(7038), PAX8(7849)]
GONADAL DYSGENESIS(HP:0000133)	[SRY(6736), FSHR(2492), DHH(50846), WT1(7490)]
GONADAL HYPOPLASIA(HP:0008639)	[ERCC6(2074)]
GONADAL NEOPLASIA(HP:0010785)	[SRY(6736), KCNQ1OT1(10984), DHH(50846), PTCH1(5727), NSD1(64324), CDKN1C(1028), WT1(7490), H19(283120), CTNNB1(1499)]
GONADAL TISSUE INAPPROPRIATE FOR EXTERNAL GENITALIA OR CHROMOSOMAL SEX(HP:0003248)	[WT1(7490)]
GONADOBLASTOMA(HP:0000150)	[SRY(6736), KCNQ1OT1(10984), DHH(50846), NSD1(64324), CDKN1C(1028), WT1(7490), H19(283120)]
GONADOBLASTOMA RISK(HP:0006745)	[DHH(50846)]
GONADOBLASTOMA, FEMALE(HP:0000149)	[WT1(7490)]
GONADOTROPIN DEFICIENCY(HP:0008192)	[BCS1L(617), LHX3(8022)]
GOUT(HP:0001997)	[HPRT1(3251), PFKM(5213), HNF1B(6928), PRPS1(5631)]
GOUT (FEET)(HP:0001854)	[HPRT1(3251)]
GOUTY ARTHRITIS(HP:0001368)	[SLC37A4(2542), SLC17A3(10786), G6PC(2538), PRPS1(5631), UMOD(7369), PRPS2(5634)]
GOWER SIGN(HP:0003391)	[TK2(7084), CHRNA1(1134), TRIM32(22954), RAPSN(5913), CAV3(859), SGCG(6445), MUSK(4593), DOK7(285489), CHRNE(1145), CHRND(1144), AGRN(375790), CHRNB1(1140), DMD(1756)]
GRACILE LONG BONES(HP:0003061)	[TBCE(6905), GJA1(2697), DOK7(285489), RAPSN(5913), KCNJ2(3759), COL1A1(1277), LIFR(3977), MGAT2(4247), LEPRE1(64175)]
GRADUAL ONSET OF COGNITIVE IMPAIRMENT(HP:0007211)	[GRN(2896)]
GRADUAL PROGRESSIVE LOSS OF CENTRAL VISUAL ACUITY(HP:0007693)	[PROM1(8842)]
GRANULAR CORNEAL DYSTROPHY(HP:0007802)	[TGFBI(7045)]
GRANULOCYTOPENIA(HP:0001913)	[ELANE(1991), TAZ(6901)]
GRANULOVACUOLAR DEGENERATION(HP:0002528)	[MAPT(4137)]
GRAY MATTER HETEROTOPIAS(HP:0002281)	[OFD1(8481), DHCR7(1717), MCPH1(79648)]
GRAYISH ENAMEL(HP:0000683)	[GALNS(2588), GLB1(2720)]
GROOVED NAILS(HP:0001811)	[FERMT1(55612), CTSK(1513), EFNB1(1947)]
GROSS MOTOR DELAY, MILD(HP:0006905)	[NPHP1(4867)]
GROWTH ABNORMALITY(HP:0001507)	[FBN1(2200), FBN2(2201), SUCLG1(8802), TINF2(26277), SPINK5(11005), CCBE1(147372), HSD17B4(3295), H19(283120), DPM1(8813), DNAJC19(131118), HSD11B2(3291), SLC35C1(55343), KCNQ1OT1(10984), FAH(2184), ABAT(18), HRAS(3265), FANCD2(2177), DOLK(22845), FANCC(2176), CTSA(5476), PPIB(5479), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), PPARG(5468), NEUROG3(50674), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), C20orf7(79133), CHRNG(1146), MPV17(4358), SLC12A1(6557), CHRND(1144), POR(5447), ACTA1(58), PUS1(80324), ACTB(60), SNRPN(6638), UPF3B(65109), FH(2271), ZEB2(9839), LHX4(89884), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CDKN1C(1028), POLG(5428), SOS1(6654), CECR(1055), FGD1(2245), GDF6(392255), C8orf38(137682), FOXC2(2303), HPRT1(3251), ADA(100), NDUFA11(126328), ALOXE3(59344), TRPV4(59341), SNCA(6622), CFTR(1080), HOXD13(3239), FASTKD2(22868), CUL7(9820), GNPTG(84572), HPD(3242), SMS(6611), SMPD1(6609), PRNP(5621), ERCC2(2068), TRIM32(22954), ERCC3(2071), ERCC4(2072), PRPS1(5631), STRA6(64220), ERCC6(2074), MTM1(4534), PROP1(5626), MAP2K1(5604), SGSH(6448), MAP2K2(5605), ADSL(158), AGA(175), FTCD(10841), KISS1R(84634), PRKAR1A(5573), NR0B1(190), AHCY(191), COL1A2(1278), AGL(178), ZNF469(84627), ACAN(176), COL1A1(1277), JAG1(182), RAB3GAP1(22930), GJB6(10804), EXT2(2132), WHCR(7467), WFS1(7466), SEPT9(10801), WHSC1(7468), EXT1(2131), ERCC8(1161), ST3GAL5(8869), MVK(4598), CEP290(80184), MUT(4594), MED12(9968), HGD(3081), TRIM37(4591), WRN(7486), SLC2A2(6514), SLC17A3(10786), WNT7A(7476), EVC(2121), SLC4A1(6521), PHGDH(26227), ALAD(210), SLC5A1(6523), SMARCAL1(50485), SHH(6469), CLCN5(1184), VLDLR(7436), CLCNKB(1188), FANCA(2175), ALDOB(229), ALDOA(226), SHOX(6473), ALDH3A2(224), GORAB(92344), ALPL(249), MCEE(84693), SIM1(6492), MTR(4548), ALOX12B(242), LEPRE1(64175), CPS1(1373), NAGS(162417), ANCR(282), NSD1(64324), VDR(7421), SLC6A19(340024), ESCO2(157570), SLC7A7(9056), COX15(1355), MATN3(4148), PAPSS2(9060), IHH(3549), MC2R(4158), SC5DL(6309), UQCRB(7381), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), AIP(9049), PEX7(5191), UROS(7390), IL2RG(3561), NUP62(23636), C10orf2(56652), SLC17A5(26503), CREBBP(1387), SIL1(64374), ATP8B1(5205), MAN2B1(4125), TRAPPC2(6399), PDHA1(5160), ENPP1(5167), COMP(1311), COL9A3(1299), COL9A2(1298), INPP5E(56623), SDHA(6389), MECP2(4204), COL11A2(1302), COL11A1(1301), COL5A2(1290), COL6A1(1291), COL4A6(1288), COL5A1(1289), COL7A1(1294), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), COL2A1(1280), IGF1R(3480), FUCA1(2517), UBE3A(7337), COL3A1(1281), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), SLC37A4(2542), VPS13B(157680), COX6B1(1340), SLC39A4(55630), MC4R(4160), G6PC(2538), ARG1(383), PCSK1(5122), AQP2(359), IGHMBP2(3508), CDAN1(146059), AR(367), CHD7(55636), SLC25A15(10166), ARSB(411), PLOD1(5351), ARSE(415), TWIST1(7291), LARGE(9215), RPS6KA3(6197), MGP(4256), FLNA(2316), PLOD2(5352), CTNS(1497), CIITA(4261), FLNB(2317), IDS(3423), IYD(389434), PMM2(5373), AASS(10157), NKX2-5(1482), ASS1(445), PKLR(5313), TSPYL1(7259), TSHB(7252), TSHR(7253), ASL(435), ASAH1(427), MBTPS2(51360), CTSK(1513), PLEC(5339), MGAT2(4247), CTDP1(9150), HSPG2(3339), TRPS1(7227), CD96(10225), ATM(472), MMP13(4322), LMBRD1(55788), MPI(4351), TRH(7200), ALG3(10195), MMAB(326625), PHEX(5251), HYAL1(3373), DCLRE1C(64421), PHKA2(5256), PHKB(5257), HYLS1(219844), ANTXR2(118429), MMP2(4313), TPM2(7169), RPS19(6223), RET(5979), AUH(549), DCX(1641), ATRX(546), MMAA(166785), NPR2(4882), TGM1(7051), ATR(545), TGFBR1(7046), AVPR2(554), TGFB1(7040), MCCC1(56922), GLI3(2737), DCR(1637), THRB(7068), NPHS1(4868), NPHP1(4867), ADAMTS10(81794), EMG1(10436), GLB1(2720), GLA(2717), GPC3(2719), CRTAP(10491), SEC23A(10484), GK(2710), ROR2(4920), DDR2(4921), MCPH1(79648), RFX5(5993), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), RFXAP(5994), GJA1(2697), DBT(1629), GHSR(2693), FST(10468), KCNQ1(3784), GH1(2688), ATP7A(538), GHR(2690), SAR1B(51128), NPHP4(261734), NDUFS7(374291), MKKS(8195), KCNJ11(3767), RAPSN(5913), OCRL(4952), GDF5(8200), BCS1L(617), FGF23(8074), AAAS(8086), GNS(2799), CYP27B1(1594), SBDS(51119), RAG2(5897), UROC1(131669), RAG1(5896), KCNJ2(3759), KCNJ1(3758), CYP21A2(1589), CYP19A1(1588), CYP11B2(1585), CYP11B1(1584), GNAS(2778), TRIP11(9321), TNFRSF11B(4982), KAL1(3730), BBS1(582), BBS2(583), TNNI2(7136), BBS4(585), NDUFAF4(29078), TNNT3(7140), NIPBL(25836), BCKDHA(593), BBS10(79738), KDM5C(8242), SNAP29(9342), BCKDHB(594), DOK7(285489), ZFP57(346171), SDHAF1(644096), MLYCD(23417), TBX15(6913), ARL6(84100), GATA1(2623), TBX3(6926), BRAF(673), OTC(5009), B4GALT7(11285), BUB1B(701), HNF1B(6928), GALT(2592), BTK(695), LHX3(8022), TCIRG1(10312), DNMT3B(1789), GALC(2581), TCN2(6948), NR0B2(8431), GALE(2582), BCOR(54880), GALNS(2588), DKC1(1736), DLD(1738), BLM(641), MKS1(54903), GNPAT(8443), RECQL4(9401), MRPS16(51021), PDX1(3651), BMPR1A(657), BMPR1B(658), EHMT1(79813), INSR(3643), FZD4(8322), ZMPSTE24(10269), INS(3630), RMRP(6023), DGUOK(1716), CA2(760), DHCR7(1717), DGCR(1714), DYM(54808), CYB5R3(1727), TNDM(7952), HGSNAT(138050), GCK(2645), PCNT(5116), SOST(50964), ROBLD3(28956), TFAP2A(7020), EIF2AK3(9451), PCCB(5096), ATP6V0A2(23545), GBA(2629), GBE1(2632), CHST3(9469), PCCA(5095), GCDH(2639), C5(727), GUSB(2990), BBS5(129880), MYH3(4621), AGPS(8540), EDNRB(1910), IKBKG(8517), IKBKAP(8518), PDE11A(50940), CDKL5(6792), GUCY2D(3000), MYH8(4626), AURKC(6795), SMAD4(4089), TYMP(1890), CANT1(124583), MYO5B(4645), SEPN1(57190), LRP5(4041), PTEN(5728), SURF1(6834), ABCC8(6833), VSX1(30813), ALDH5A1(7915), RAB23(51715), PTH1R(5745), ADAMTS2(9509), PRSS1(5644), HCCS(3052), LMNA(4000), EVC2(132884), NBN(4683), CYP2R1(120227), LMX1B(4010), PRPS2(5634), SLC26A2(1836), SPG20(23111), CUL4B(8450), NDN(4692), PHF6(84295), DSP(1832), BSND(7809), NDUFA1(4694), NDUFA2(4695), CBS(875), HCRT(3060), TMPRSS15(5651), NEB(4703), ANKH(56172), TBCE(6905), TBX1(6899), PORCN(64840), PEX3(8504), NDUFS1(4719), SLC26A3(1811), TAZ(6901), LIFR(3977), RUNX2(860), EBP(10682), NDUFS3(4722), NDUFV1(4723), DLL3(10683), LIPA(3988), NDUFS2(4720), HADHB(3032), OFD1(8481), HADH(3033), BBS7(55212), NDUFS6(4726), CLDN16(10686), NDUFS4(4724), ALMS1(7840), NDUFS8(4728), CASP8(841), CASR(846), HADHA(3030), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), SLC4A4(8671), PEX2(5828), PEX5(5830), PYGL(5836), NDUFAF2(91942), SOX9(6662), SOX2(6657), NF1(4763), UQCRQ(27089), NSDHL(50814), SLC35D1(23169), ABCB11(8647), RSPO4(343637), NEU1(4758), LAMB3(3914), NDUFAF3(25915), LAMC2(3918), AKR1D1(6718), CD247(919), PNPO(55163), LAMA3(3909), LBR(3930), ELANE(1991), GFM1(85476), JPH3(57338), SPR(6697), PTPN11(5781), L1CAM(3897), NME1(4830), ADAMTSL2(9719), ST14(6768), TP63(8626), KRAS(3845), RFXANK(8625), NODAL(4838), SEMA3E(9723), EFNB1(1947), MMACHC(25974), SSTR5(6755), DUOXA2(405753), PNP(4860), SLC34A3(142680), AGPAT2(10555)]
GROWTH FAILURE(HP:0001517)	[DCX(1641), SOX2(6657), ARG1(383), BLM(641), SLC4A1(6521)]
GROWTH HORMONE AND PITUITARY ABNORMALITY(HP:0000844)	[SNRPN(6638), INSR(3643), SIX3(6496), LHX4(89884), CDKN1B(1027), H19(283120), GLI3(2737), PROP1(5626), NDN(4692), HESX1(8820), SOX3(6658), GNRH1(2796), BTK(695), MEN1(4221), LHX3(8022), PITX2(5308), BMP4(652), GNAS(2778), SHH(6469), VPS13B(157680), AIP(9049), TP63(8626), CRH(1392), SEMA3E(9723), SSTR5(6755), PRKAR1A(5573), ALMS1(7840), GH1(2688), CHD7(55636)]
GROWTH HORMONE DEFICIENCY(HP:0000824)	[SNRPN(6638), SHH(6469), VPS13B(157680), TP63(8626), CRH(1392), H19(283120), SEMA3E(9723), GLI3(2737), NDN(4692), HESX1(8820), ALMS1(7840), BTK(695), LHX3(8022), GH1(2688), CHD7(55636), PITX2(5308)]
GROWTH RETARDATION(HP:0001510)	[FBN1(2200), SUCLG1(8802), TINF2(26277), SPINK5(11005), CCBE1(147372), HSD17B4(3295), DPM1(8813), H19(283120), DNAJC19(131118), HSD11B2(3291), SLC35C1(55343), FAH(2184), HRAS(3265), FANCD2(2177), FANCC(2176), CTSA(5476), DOLK(22845), PPIB(5479), FANCE(2178), UBR1(197131), GNPTAB(79158), CHRNA1(1134), SLC5A5(6528), NEUROG3(50674), B3GALTL(145173), SLC6A8(6535), C20orf7(79133), CHRNG(1146), MPV17(4358), SLC12A1(6557), CHRND(1144), POR(5447), ACTA1(58), PUS1(80324), ACTB(60), SNRPN(6638), FH(2271), LHX4(89884), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), POLG(5428), SOS1(6654), FGD1(2245), GDF6(392255), C8orf38(137682), HPRT1(3251), FOXC2(2303), ADA(100), NDUFA11(126328), ALOXE3(59344), TRPV4(59341), SNCA(6622), CFTR(1080), HOXD13(3239), FASTKD2(22868), CUL7(9820), GNPTG(84572), HPD(3242), SMPD1(6609), PRNP(5621), ERCC2(2068), ERCC3(2071), PRPS1(5631), STRA6(64220), ERCC6(2074), MAP2K1(5604), MAP2K2(5605), ADSL(158), AGA(175), FTCD(10841), NR0B1(190), AHCY(191), COL1A2(1278), AGL(178), ACAN(176), COL1A1(1277), JAG1(182), RAB3GAP1(22930), GJB6(10804), EXT2(2132), WHCR(7467), WFS1(7466), SEPT9(10801), WHSC1(7468), EXT1(2131), ERCC8(1161), ST3GAL5(8869), MVK(4598), MUT(4594), MED12(9968), TRIM37(4591), SLC2A2(6514), SLC17A3(10786), WRN(7486), WNT7A(7476), EVC(2121), SLC4A1(6521), PHGDH(26227), ALAD(210), SLC5A1(6523), SMARCAL1(50485), SHH(6469), CLCN5(1184), VLDLR(7436), CLCNKB(1188), FANCA(2175), ALDOB(229), ALDOA(226), SHOX(6473), ALDH3A2(224), GORAB(92344), ALPL(249), MCEE(84693), MTR(4548), ALOX12B(242), LEPRE1(64175), CPS1(1373), NAGS(162417), VDR(7421), SLC6A19(340024), ESCO2(157570), SLC7A7(9056), COX15(1355), MATN3(4148), PAPSS2(9060), IHH(3549), MC2R(4158), SC5DL(6309), UQCRB(7381), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), UROS(7390), NUP62(23636), IL2RG(3561), C10orf2(56652), SLC17A5(26503), CREBBP(1387), SIL1(64374), ATP8B1(5205), MAN2B1(4125), TRAPPC2(6399), PDHA1(5160), COMP(1311), COL9A3(1299), COL9A2(1298), SDHA(6389), MECP2(4204), COL11A2(1302), COL11A1(1301), COL5A2(1290), COL6A1(1291), COL4A6(1288), COL5A1(1289), COL7A1(1294), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), IGF1R(3480), COL2A1(1280), FUCA1(2517), COL3A1(1281), PQBP1(10084), PEX26(55670), SLC37A4(2542), VPS13B(157680), COX6B1(1340), SLC39A4(55630), G6PC(2538), ARG1(383), AQP2(359), IGHMBP2(3508), CDAN1(146059), CHD7(55636), SLC25A15(10166), ARSB(411), ARSE(415), LARGE(9215), TWIST1(7291), RPS6KA3(6197), FLNA(2316), PLOD2(5352), CTNS(1497), CIITA(4261), FLNB(2317), IDS(3423), IYD(389434), PMM2(5373), AASS(10157), PKLR(5313), ASS1(445), TSPYL1(7259), TSHB(7252), TSHR(7253), ASL(435), ASAH1(427), MBTPS2(51360), CTSK(1513), MGAT2(4247), PLEC(5339), CTDP1(9150), HSPG2(3339), TRPS1(7227), CD96(10225), ATM(472), LMBRD1(55788), MPI(4351), TRH(7200), ALG3(10195), MMAB(326625), PHEX(5251), HYAL1(3373), DCLRE1C(64421), PHKA2(5256), HYLS1(219844), ANTXR2(118429), MMP2(4313), TPM2(7169), RPS19(6223), RET(5979), AUH(549), DCX(1641), MMAA(166785), NPR2(4882), ATRX(546), TGM1(7051), ATR(545), AVPR2(554), MCCC1(56922), TGFB1(7040), GLI3(2737), DCR(1637), THRB(7068), NPHS1(4868), NPHP1(4867), ADAMTS10(81794), EMG1(10436), GLB1(2720), GLA(2717), CRTAP(10491), SEC23A(10484), GK(2710), ROR2(4920), DDR2(4921), MCPH1(79648), RFX5(5993), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), RFXAP(5994), GJA1(2697), GHSR(2693), GH1(2688), ATP7A(538), GHR(2690), NPHP4(261734), NDUFS7(374291), SAR1B(51128), KCNJ11(3767), RAPSN(5913), GDF5(8200), OCRL(4952), BCS1L(617), FGF23(8074), AAAS(8086), CYP27B1(1594), SBDS(51119), RAG2(5897), UROC1(131669), RAG1(5896), KCNJ1(3758), CYP19A1(1588), CYP11B2(1585), CYP11B1(1584), GNAS(2778), TRIP11(9321), TNFRSF11B(4982), TNNI2(7136), NDUFAF4(29078), TNNT3(7140), NIPBL(25836), SNAP29(9342), KDM5C(8242), DOK7(285489), ZFP57(346171), SDHAF1(644096), MLYCD(23417), TBX15(6913), GATA1(2623), TBX3(6926), BRAF(673), OTC(5009), B4GALT7(11285), BUB1B(701), GALT(2592), BTK(695), TCIRG1(10312), DNMT3B(1789), GALC(2581), TCN2(6948), GALE(2582), BCOR(54880), GALNS(2588), DKC1(1736), DLD(1738), BLM(641), MKS1(54903), GNPAT(8443), RECQL4(9401), PDX1(3651), MRPS16(51021), BMPR1A(657), BMPR1B(658), INSR(3643), FZD4(8322), ZMPSTE24(10269), INS(3630), RMRP(6023), DGUOK(1716), CA2(760), DHCR7(1717), DGCR(1714), DYM(54808), CYB5R3(1727), TNDM(7952), GCK(2645), PCNT(5116), ROBLD3(28956), TFAP2A(7020), EIF2AK3(9451), PCCB(5096), ATP6V0A2(23545), GBA(2629), GBE1(2632), CHST3(9469), PCCA(5095), GCDH(2639), GUSB(2990), MYH3(4621), AGPS(8540), IKBKG(8517), IKBKAP(8518), GUCY2D(3000), MYH8(4626), SMAD4(4089), TYMP(1890), CANT1(124583), MYO5B(4645), SEPN1(57190), LRP5(4041), PTEN(5728), SURF1(6834), ABCC8(6833), RAB23(51715), PTH1R(5745), ADAMTS2(9509), PRSS1(5644), LMNA(4000), HCCS(3052), EVC2(132884), NBN(4683), CYP2R1(120227), PRPS2(5634), LMX1B(4010), SLC26A2(1836), SPG20(23111), CUL4B(8450), NDN(4692), PHF6(84295), DSP(1832), BSND(7809), NDUFA1(4694), NDUFA2(4695), CBS(875), TMPRSS15(5651), TBCE(6905), TBX1(6899), PORCN(64840), PEX3(8504), NDUFS1(4719), TAZ(6901), LIFR(3977), RUNX2(860), EBP(10682), NDUFS3(4722), NDUFV1(4723), DLL3(10683), HADHB(3032), NDUFS2(4720), LIPA(3988), OFD1(8481), HADH(3033), NDUFS6(4726), CLDN16(10686), ALMS1(7840), NDUFS4(4724), NDUFS8(4728), CASP8(841), CASR(846), HADHA(3030), PAX8(7849), PEX19(5824), EP300(2033), ABCD3(5825), SLC4A4(8671), PEX2(5828), PEX5(5830), PYGL(5836), NDUFAF2(91942), SOX9(6662), SOX2(6657), NF1(4763), UQCRQ(27089), NSDHL(50814), SLC35D1(23169), ABCB11(8647), NEU1(4758), LAMB3(3914), NDUFAF3(25915), LAMC2(3918), AKR1D1(6718), CD247(919), PNPO(55163), LAMA3(3909), LBR(3930), GFM1(85476), JPH3(57338), SPR(6697), PTPN11(5781), L1CAM(3897), NME1(4830), ADAMTSL2(9719), TP63(8626), KRAS(3845), RFXANK(8625), NODAL(4838), EFNB1(1947), MMACHC(25974), SEMA3E(9723), DUOXA2(405753), PNP(4860), SLC34A3(142680)]
GROWTH RETARDATION AS CHILDREN(HP:0008918)	[PYGL(5836)]
GROWTH RETARDATION, MILD(HP:0001530)	[CDAN1(146059), CCBE1(147372)]
GROWTH RETARDATION, PRENATAL AND POSTNATAL(HP:0008893)	[BUB1B(701)]
GYNECOMASTIA(HP:0000771)	[CUL4B(8450), KAL1(3730), ALMS1(7840), STK11(6794), HSD17B3(3293), CYP21A2(1589), PTEN(5728), CYP19A1(1588), AR(367), CYP17A1(1586)]
HAIR ABNORMALITY(HP:0001595)	[TINF2(26277), TGM1(7051), SPINK5(11005), CCBE1(147372), MCCC2(64087), GAN(8139), EDARADD(128178), GLI3(2737), HRAS(3265), SNAI2(6591), DOLK(22845), UBR1(197131), BBS9(27241), GLB1(2720), PPARG(5468), NTRK1(4914), SEC23A(10484), B3GALTL(145173), GJB2(2706), GTF2H5(404672), SLC9A6(10479), GJA1(2697), FST(10468), PUS1(80324), WNT10A(80326), ATP7A(538), NDUFS7(374291), MKKS(8195), SNRPN(6638), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BCS1L(617), BBS12(166379), SOS1(6654), GNS(2799), UROC1(131669), RAG2(5897), RAG1(5896), CDSN(1041), FGD1(2245), EDAR(10913), DTNBP1(84062), GDF6(392255), ACVR1(90), C8orf38(137682), ABHD5(51099), CNBP(7555), FOXC2(2303), JUP(3728), KAL1(3730), BBS1(582), BBS2(583), BBS4(585), HPS1(3257), ALOXE3(59344), NIPBL(25836), BBS10(79738), KDM5C(8242), CUL7(9820), BTD(686), DMPK(1760), ERCC2(2068), TRIM32(22954), ERCC3(2071), ARL6(84100), ERCC4(2072), TBX3(6926), STRA6(64220), ERCC6(2074), BRAF(673), B4GALT7(11285), MAP2K1(5604), SGSH(6448), MAP2K2(5605), C7orf11(136647), BLOC1S3(388552), HLCS(3141), TCOF1(6949), PAH(5053), BCOR(54880), SOX18(54345), DKC1(1736), DLD(1738), BLM(641), FOXL2(668), MKS1(54903), PRKAR1A(5573), DLX3(1747), AHCY(191), WNT4(54361), RECQL4(9401), ZNF469(84627), KIAA1279(26128), RAB3GAP1(22930), HPS6(79803), MSX1(4487), GJB6(10804), WHCR(7467), EHMT1(79813), INSR(3643), WHSC1(7468), FLCN(201163), CEP290(80184), PAX3(5077), ZMPSTE24(10269), MED12(9968), RMRP(6023), WRN(7486), HFE(3077), NOP10(55505), SMARCAL1(50485), FRAS1(80144), HGSNAT(138050), PCNT(5116), TERC(7012), TERT(7015), TFAP2A(7020), ALDOA(226), ALDH3A2(224), PPP1R3A(5506), ALOX12B(242), GUSB(2990), BBS5(129880), CLDN1(9076), ANCR(282), HPS5(11234), NSD1(64324), VDR(7421), EDNRB(1910), EDA(1896), ESCO2(157570), IKBKG(8517), SLC7A7(9056), ALX3(257), CDKL5(6792), COX15(1355), AURKC(6795), GNE(10020), MYO5A(4644), SAT1(6303), UROD(7389), AIP(9049), PEX7(5191), UROS(7390), DCAF17(80067), SURF1(6834), AP3B1(8546), SLC17A5(26503), CREBBP(1387), SLC12A6(9990), NAGLU(4669), SUOX(6821), MAN2B1(4125), ADAMTS2(9509), LMNA(4000), NHP2(55651), SDHA(6389), MECP2(4204), APOE(348), AIRE(326), NDN(4692), DSP(1832), COL7A1(1294), NDUFA2(4695), FOXN1(8456), UBE3A(7337), COL3A1(1281), CBS(875), PQBP1(10084), TTC8(123016), BSCL2(26580), SLC39A4(55630), HPS3(84343), PORCN(64840), EBP(10682), NDUFS3(4722), NDUFV1(4723), OFD1(8481), TYR(7299), BBS7(55212), ALMS1(7840), NDUFS4(4724), MOGS(7841), NDUFS8(4728), AR(367), EP300(2033), TWIST1(7291), RPS6KA3(6197), LPAR6(10161), FLNA(2316), CTNS(1497), IDS(3423), SOX10(6663), MID1(4281), MITF(4286), NSDHL(50814), LRPPRC(10128), SRD5A2(6716), ASL(435), TSC1(7248), TSC2(7249), RAB27A(5873), ARX(170302), MBTPS2(51360), PLEC(5339), HSPG2(3339), TRPS1(7227), CD96(10225), KRT81(3887), ATM(472), KRT17(3872), CDH3(1001), PTPN11(5781), KRT86(3892), FREM2(341640), KRT83(3889), MLPH(79083), KRT85(3891), HR(55806), KRT6B(3854), ST14(6768), KRT1(3848), DCLRE1C(64421), TP63(8626), KRAS(3845), EFNB1(1947), MMP2(4313), HPS4(89781), AGPAT2(10555), KRT14(3861), PVRL1(5818), KRT10(3858)]
HAIR HYPOPIGMENTATION(HP:0005599)	[PAH(5053), RMRP(6023), CDKL5(6792), AP3B1(8546), SLC17A5(26503), UROC1(131669), LPAR6(10161), TP63(8626), ANCR(282), MECP2(4204), UBE3A(7337)]
HAIR SHAFTS FLATTENED AT IRREGULAR INTERVALS AND TWISTED THROUGH 180 DEGREES ABOUT THEIR AXES(HP:0003329)	[BCS1L(617)]
HAIR-NAIL ECTODERMAL DYSPLASIA(HP:0007436)	[KRT85(3891)]
HALBERD-SHAPED PELVIS(HP:0002826)	[TRPV4(59341)]
HALLUCINATIONS(HP:0000738)	[ARSA(410), PRNP(5621), DISC2(27184), CPOX(1371), BCS1L(617), NHLRC1(378884), PPT1(5538), NDP(4693), UQCRQ(27089), EPM2A(7957), HCRT(3060), UQCRB(7381), TBP(6908), DLD(1738), ATP13A2(23400), BCKDHA(593), SNCA(6622), BCKDHB(594), SNCB(6620), CACNA1A(773), GRN(2896), DBT(1629), JPH3(57338), ALDH5A1(7915), HSD17B10(3028)]
HALLUX VALGUS(HP:0001822)	[TWIST1(7291), TP63(8626), FGFR2(2263), SLC16A2(6567), ACVR1(90)]
HALLUX VARUS(HP:0008080)	[HOXA13(3209)]
HAMARTOMA(HP:0010566)	[OFD1(8481), SOX2(6657), NF1(4763), STK11(6794), PTEN(5728), TSC1(7248), NF2(4771), TSC2(7249), GLI3(2737)]
HAMARTOMAS OF THE EYE(HP:0010568)	[NF1(4763), NF2(4771)]
HAMARTOMATOUS POLYPS(HP:0004390)	[STK11(6794), PTEN(5728)]
HAMMER TOES(HP:0001765)	[FBN1(2200), SBF2(81846), BSCL2(26580), MFN2(9927), KIF1B(23095), NEFL(4747), SACS(26278), BCOR(54880), HSD17B4(3295), GARS(2617), PRX(57716), EGR2(1959), DHCR7(1717), MPZ(4359), MYH8(4626), RAB7A(7879), PMP22(5376)]
HAND TREMOR(HP:0002378)	[SMN1(6606)]
HASHIMOTO THYROIDITIS(HP:0000872)	[PTEN(5728)]
HEAD ABNORMALITY(HP:0000234)	[FBN1(2200), ADAMTSL4(54507), FBN2(2201), HIBCH(26275), EFEMP1(2202), TINF2(26277), SPINK5(11005), SACS(26278), CCBE1(147372), DPM1(8813), EDARADD(128178), SLC16A2(6567), KCNQ1OT1(10984), ABCA1(19), HESX1(8820), SNAI2(6591), FANCD2(2177), FANCC(2176), ABCA4(24), FANCE(2178), ACADS(35), ACADSB(36), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), MPZ(4359), MPV17(4358), ACTA1(58), PUS1(80324), WNT10A(80326), TNFRSF11A(8792), ACTB(60), SNRPN(6638), ACTG1(71), UPF3B(65109), FH(2271), FGFR1(2260), FGFR3(2261), FGFR2(2263), FGF14(2259), FAM83H(286077), FGF10(2255), SOS1(6654), FGF3(2248), FGD1(2245), ACY1(95), ACVRL1(94), EDAR(10913), GDF6(392255), ACVR1(90), SMN1(6606), FOXC2(2303), ADA(100), FOXE3(2301), FOXI1(2299), SMCR(6600), FOXC1(2296), NDUFA11(126328), WNK1(65125), TRPV4(59341), SMS(6611), TUBB2B(347733), SMPD1(6609), ERBB3(2065), ABCA12(26154), ERCC2(2068), ERCC3(2071), EYA4(2070), PHOX2B(8929), ERCC4(2072), SGCB(6443), ERCC6(2074), MTM1(4534), SGSH(6448), TMEM67(91147), MTHFR(4524), BLOC1S3(388552), SH3BP2(6452), CLN8(2055), MFRP(83552), PRPF31(26121), AGA(175), MFSD8(256471), SPG11(80208), SOX18(54345), MTMR2(8898), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), AGTR1(185), MIPOL1(145282), AHCY(191), AGXT(189), AGL(178), KIAA1279(26128), OPA3(80207), JAG1(182), AGT(183), MSX1(4487), GJB6(10804), SQSTM1(8878), SEPT9(10801), SIX3(6496), ST3GAL5(8869), CEP290(80184), MVK(4598), MUSK(4593), EYA1(2138), EIF2B2(8892), EIF2B5(8893), TRIM37(4591), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), ABCD1(215), EVC(2121), PHGDH(26227), PCDH15(65217), SMARCAL1(50485), FRAS1(80144), SHH(6469), PROM1(8842), F11(2160), FANCA(2175), ALDOB(229), TSEN54(283989), ALDOA(226), SHOX(6473), ALDH3A2(224), ALPL(249), F10(2159), MTTP(4547), F5(2153), BIN1(274), SCN9A(6335), CLDN1(9076), SCN1A(6323), ANCR(282), HPS5(11234), MAPT(4137), MAT1A(4143), SLC6A19(340024), ATXN7(6314), ATXN8OS(6315), SLC4A11(83959), ALX3(257), AMELY(266), AMELX(265), ATXN1(6310), ATXN2(6311), SC5DL(6309), SALL1(6299), SAT1(6303), RAB39B(116442), AIP(9049), NUP62(23636), DCAF17(80067), SAG(6295), C10orf2(56652), SLC25A4(291), SLC17A5(26503), CNNM4(26504), MAN2B1(4125), MANBA(4126), TRAPPC2(6399), SLC6A20(54716), APOB(338), CNGB3(54714), SDHD(6392), APOA2(336), SDHC(6391), SDHB(6390), INPP5E(56623), SDHA(6389), MECP2(4204), APOE(348), PDP1(54704), APOC2(344), AIRE(326), APC(324), PIKFYVE(200576), APOA1(335), PDSS1(23590), FUCA1(2517), MEN1(4221), FTL(2512), BSCL2(26580), CHST6(4166), SLC37A4(2542), ABCC6(368), G6PC(2538), PANK2(80025), GAA(2548), AR(367), ARSA(410), ARSB(411), FOXE1(2304), ARSE(415), LARGE(9215), STS(412), RPS6KA3(6197), MGP(4256), PHOX2A(401), GRHL2(79977), FLNA(2316), FLNB(2317), MID1(4281), ATXN3(4287), MITF(4286), FMR1(2332), ASPA(443), OSMR(9180), TRIOBP(11078), KERA(11081), L2HGDH(79944), ASAH1(427), ASCL1(429), MGAT2(4247), CTDP1(9150), ATP1A3(478), RYR1(6261), ATP1A2(477), ATM(472), ATIC(471), RS1(6247), KCNQ4(9132), PRPF3(9129), FXN(2395), MOCS2(4338), MOCS1(4337), HYLS1(219844), ANTXR2(118429), MMP2(4313), ATP2A2(488), HPS4(89781), TH(7054), AVP(551), MERTK(10461), AUH(549), ATRX(546), TGIF1(7050), NPR2(4882), ATXN8(724066), ATR(545), TGFBR1(7046), CLN6(54982), TGFBI(7045), TGFB1(7040), GLI3(2737), GLE1(2733), THRB(7068), NPHP1(4867), NPC1(4864), EMG1(10436), MYO15A(51168), GLB1(2720), TK2(7084), COLQ(8292), GLA(2717), GPC3(2719), NTRK1(4914), CRTAP(10491), SEC23A(10484), ATP6V1B1(525), GK(2710), TIMP3(7078), ROR2(4920), DDR2(4921), GJB2(2706), GTF2H5(404672), GJA8(2703), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), ATP7B(540), PROKR2(128674), GH1(2688), GHR(2690), ATP7A(538), SAR1B(51128), GP1BA(2811), MKKS(8195), OPN1SW(611), GP9(2815), GP1BB(2812), OCA2(4948), NDRG1(10397), GDF5(8200), OCRL(4952), BCS1L(617), COL18A1(80781), BDNF(627), GNS(2799), ATXN10(25814), GPR143(4935), TUBB3(10381), TNFRSF1A(7132), OAT(4942), OPA1(4976), ABHD5(51099), GNAS(2778), TNFRSF11B(4982), BBS1(582), BBS2(583), OPHN1(4983), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), SIX6(4990), SDHAF2(54949), GM2A(2760), CCND1(595), KDM5C(8242), BTD(686), PLA2G6(8398), TBXAS1(6916), TBX15(6913), EFEMP2(30008), TMPRSS3(64699), TBX21(30009), GATA1(2623), TBX3(6926), CC2D1A(54862), BRAF(673), BUB1B(701), GALT(2592), BTK(695), TCIRG1(10312), TCOF1(6949), PAH(5053), GALC(2581), TCN2(6948), BMP4(652), GALE(2582), BCOR(54880), GALNS(2588), GALNT3(2591), BLM(641), PSAT1(29968), GALK1(2584), BFSP2(8419), FOXL2(668), MKS1(54903), GNPAT(8443), C20orf54(113278), MRPS16(51021), POMT2(29954), GAD1(2571), PAX6(5080), GGCX(2677), B4GALT1(2683), FZD4(8322), PAX3(5077), ZMPSTE24(10269), PAX2(5076), CA4(762), GPHN(10243), CA2(760), GDF1(2657), RAX(30062), AHI1(54806), FAM20C(56975), DYM(54808), SAMD9(54809), TEAD1(7003), GFAP(2670), TECTA(7007), PAK3(5063), GDNF(2668), COQ9(57017), TEK(7010), GCK(2645), PCNT(5116), TERC(7012), TERT(7015), SOST(50964), CHST14(113189), TF(7018), TFAP2B(7021), OPN1MW(2652), TFAP2A(7020), SERPING1(710), PCCB(5096), GATA3(2625), TBX22(50945), GBA(2629), APTX(54840), GCDH(2639), CABC1(56997), PCCA(5095), PITPNM3(83394), MYCN(4613), P2RY12(64805), GUSB(2990), SLURP1(57152), SALL4(57167), MYH3(4621), GJC2(57165), GUCA1A(2978), MYF6(4618), IKBKG(8517), MYH11(4629), IKBKAP(8518), PDE11A(50940), CDKL5(6792), GUCY2D(3000), MYH8(4626), USH1G(124590), STK11(6794), AURKC(6795), MYH9(4627), FOXP2(93986), ELOVL4(6785), CANT1(124583), MYO7A(4647), SEPN1(57190), MYOC(4653), MCOLN1(57192), SURF1(6834), ABCC8(6833), CACNA1A(773), AP3B1(8546), RAI1(10743), NAGA(4668), NAGLU(4669), SUOX(6821), ICOS(29851), CACNA1F(778), TAF1(6872), HCCS(3052), KRIT1(889), NYX(60506), EVC2(132884), ALG6(29929), NBN(4683), CYP2R1(120227), HTT(3064), PDSS2(57107), CUL4B(8450), NDN(4692), NDP(4693), NDUFA1(4694), NDUFA2(4695), CBS(875), HCRT(3060), SYN1(6853), NEB(4703), ALX4(60529), TBCE(6905), TBP(6908), TBX1(6899), ATCAY(85300), PORCN(64840), PEX3(8504), NDUFS1(4719), RUNX1(861), RUNX2(860), EBP(10682), TAP1(6890), NDUFS3(4722), TAP2(6891), NDUFV1(4723), NDUFS2(4720), HADHB(3032), OFD1(8481), BBS7(55212), NDUFS6(4726), CLDN16(10686), TAPBP(6892), NDUFS4(4724), AGRN(375790), UBIAD1(29914), NDUFS8(4728), CASP8(841), CASR(846), HADHA(3030), HSD17B10(3028), PRSS12(8492), SLC4A4(8671), CD40LG(959), SLC19A2(10560), SPG7(6687), NDUFAF2(91942), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), NF1(4763), NSDHL(50814), NEU1(4758), ANO5(203859), POMT1(10585), PRPF8(10594), NDUFAF3(25915), D2HGDH(728294), NF2(4771), SPTBN2(6712), PNPO(55163), GFM1(85476), THAP1(55145), SPR(6697), TNFSF11(8600), NHS(4810), GRM6(2916), NGF(4803), CDH3(1001), FBLN5(10516), GSN(2934), NME1(4830), GSS(2937), ST14(6768), STAT3(6774), TP63(8626), MMACHC(25974), SSTR5(6755), PNP(4860), SLC34A3(142680), AGPAT2(10555), PNKD(25953), SPTLC1(10558), NOTCH3(4854), FKRP(79147), CHAT(1103), MMADHC(27249), HSD17B4(3295), H19(283120), DNAJC19(131118), HSD11B2(3291), SLC35C1(55343), HRAS(3265), COQ2(27235), CDH23(64072), DOLK(22845), CTSA(5476), PPIB(5479), MATR3(9782), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), TMC1(117531), PPARG(5468), NOD2(64127), LYST(1130), CHML(1122), POU3F4(5456), CHM(1121), HSF4(3299), C20orf7(79133), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), CHRNB1(1140), ZEB2(9839), CDKN1B(1027), BBS12(166379), CDKN1C(1028), POLG(5428), POLH(5429), HOXA11(3207), CECR(1055), POLA1(5422), ASPM(259266), C8orf38(137682), CNBP(7555), HPGD(3248), HPS1(3257), HOXD13(3239), FASTKD2(22868), CUL7(9820), CTSC(1075), GNPTG(84572), PMP22(5376), PRNP(5621), TRIM32(22954), PRPS1(5631), ROBO3(64221), STRA6(64220), PROC(5624), MAP2K1(5604), MAP2K2(5605), ZIC1(7545), MAPK10(5602), FAM126A(84668), HOXA2(3199), CNGA3(1261), CNGB1(1258), PRKAR1A(5573), PRKCG(5582), COL1A2(1278), RPIA(22934), XPC(7508), ZNF469(84627), COL1A1(1277), RAB3GAP1(22930), XPA(7507), WHCR(7467), WFS1(7466), WHSC1(7468), ERCC8(1161), MED12(9968), HGD(3081), HGF(3082), PPT1(5538), WRN(7486), BEAN(146227), WNT3(7473), HEXA(3073), HEXB(3074), CFH(3075), WNT7A(7476), NOP10(55505), CLCN7(1186), PPP2R2B(5521), FRMD7(90167), BEST1(7439), MFN2(9927), VLDLR(7436), CLCNKB(1188), VHL(7428), PPP1R3A(5506), VWF(7450), CLN5(1203), TPP1(1200), CLN3(1201), WAS(7454), GORAB(92344), LEPRE1(64175), PGK1(5230), NSD1(64324), VDR(7421), FERMT1(55612), ESCO2(157570), USH2A(7399), CP(1356), COX15(1355), KIF21A(55605), GNE(10020), IHH(3549), CLRN1(7401), UQCRB(7381), UPK3A(7380), CRX(1406), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), UROS(7390), IL2RG(3561), CRH(1392), PEPD(5184), NR2E3(10002), SCO2(9997), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), UCHL1(7345), PDHA1(5160), COMP(1311), COL17A1(1308), NHP2(55651), COL8A2(1296), COL11A2(1302), PDE6B(5158), COL11A1(1301), COL5A2(1290), COL6A1(1291), COL4A6(1288), COL5A1(1289), COL7A1(1294), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), COL4A1(1282), USH1C(10083), IGF1R(3480), COL2A1(1280), UBE3A(7337), COL3A1(1281), COL4A4(1286), COL4A5(1287), PQBP1(10084), TTC8(123016), PEX26(55670), SLC26A4(5172), COL4A3(1285), LMNB2(84823), POMGNT1(55624), UBB(7314), VPS13B(157680), UBA1(7317), COX6B1(1340), SLC39A4(55630), FLVCR2(55640), TYR(7299), TTBK2(146057), TYRP1(7306), CHD7(55636), SLC25A15(10166), PLOD1(5351), TWIST1(7291), TULP1(7287), PLP1(5354), PLOD2(5352), CTNS(1497), IDS(3423), TTR(7276), TTPA(7274), TTN(7273), AASS(10157), PMM2(5373), NKX2-5(1482), OPTN(10133), LRPPRC(10128), PKHD1(5314), TSPYL1(7259), TSHB(7252), TSHR(7253), SP110(3431), TSC1(7248), TSC2(7249), CFI(3426), CTSD(1509), ENAM(10117), ARX(170302), MBTPS2(51360), PLG(5340), CTSK(1513), PLEC(5339), HSPG2(3339), TRPS1(7227), CD96(10225), HSPD1(3329), LMBRD1(55788), CRYBA1(1411), CRYAB(1410), PITX3(5309), CRYGD(1421), MLPH(79083), HR(55806), PITX2(5308), ALG3(10195), PHEX(5251), HYAL1(3373), VCAN(1462), DCLRE1C(64421), CDK5RAP2(55755), CSF3R(1441), PHYH(5264), TPM2(7169), TPM3(7170), SH3TC2(79628), RET(5979), DDB2(1643), CENPJ(55835), DCX(1641), DDC(1644), GAN(8139), DCTN1(1639), ACE(1636), REN(5972), DCR(1637), SATB2(23314), RDX(5962), NOG(9241), PRPH2(5961), GCM2(9247), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), RDH5(5959), SPATA7(55812), RCVRN(5957), OPN1LW(5956), SBF2(81846), RHO(6010), GRK1(6011), DYNC2H1(79659), MCPH1(79648), MARVELD2(153562), VANGL1(81839), KCNQ1(3784), DBH(1621), NPHP4(261734), NDUFS7(374291), KCNJ11(3767), GPR56(9289), CYP4V2(285440), RAPSN(5913), FGF23(8074), KCNJ13(3769), AAAS(8086), KCNC3(3748), CYP27B1(1594), RAG2(5897), CYP27A1(1593), UROC1(131669), RAG1(5896), KCNJ2(3759), KCNJ1(3758), GPR98(84059), DTNBP1(84062), RBP4(5950), TRIP11(9321), CYP1B1(1545), KAL1(3730), NDUFAF4(29078), ATP13A2(23400), PABPN1(8106), BBS10(79738), ZFPM2(23414), SNAP29(9342), FAM123B(139285), DOK7(285489), RB1(5925), CRB1(23418), SLC25A22(79751), DMPK(1760), RPGR(6103), RP2(6102), RP1(6101), ZIC4(84107), RP9(6100), ARL6(84100), B4GALT7(11285), ITGB3(3690), ITGB4(3691), ITGB2(3689), ALS2(57679), TREX1(11277), KL(9365), DNM2(1785), ROM1(6094), LHX3(8022), DNMT3B(1789), DIAPH1(1729), ITGA2B(3674), OTOF(9381), ZFHX4(79776), DLAT(1737), DKC1(1736), IRF6(3664), PARK7(11315), DLD(1738), MYH14(79784), DLX3(1747), RPE65(6121), RECQL4(9401), PDHX(8050), ETHE1(23474), HPS6(79803), DMP1(1758), ITGA6(3655), ZFYVE26(23503), EHMT1(79813), INSR(3643), TNFRSF13B(23495), INS(3630), DHCR24(1718), RMRP(6023), DGUOK(1716), DHCR7(1717), DGCR(1714), OSTM1(28962), RLBP1(6017), CYB5R3(1727), SH3PXD2B(285590), EPM2A(7957), ITM2B(9445), HGSNAT(138050), ALG1(56052), IMPDH1(3614), CLCF1(23529), ROBLD3(28956), TIMM8A(1678), EIF2AK3(9451), DES(1674), DFNA5(1687), ATP6V0A2(23545), ARHGEF6(9459), CHST3(9469), TBX4(9496), CLDN19(149461), SH2D1A(4068), BBS5(129880), TACSTD2(4070), SETX(23064), EDNRA(1909), EDN3(1908), EDNRB(1910), EDA(1896), PTCH1(5727), TYMP(1890), PTGS1(5742), KIF1B(23095), PTH(5741), LRP2(4036), LRP5(4041), PTEN(5728), VSX1(30813), ALDH5A1(7915), RAB23(51715), PTH1R(5745), DYT3(1863), TOR1A(1861), ADAMTS2(9509), LMNB1(4001), LMNA(4000), C1QTNF5(114902), LOX(4015), NHLRC1(378884), LMX1B(4010), PRPS2(5634), SLC26A2(1836), SPG20(23111), LPL(4023), PHF6(84295), DSP(1832), BSND(7809), DSPP(1834), NLGN4X(57502), RELN(5649), ANKH(56172), HPS3(84343), LIFR(3977), TUBA1A(7846), LIPA(3988), ALMS1(7840), MOGS(7841), DPAGT1(1798), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), LDLR(3949), KLK4(9622), PEX5(5830), ENG(2022), UQCRQ(27089), SLC35D1(23169), SLC36A2(153201), LAMB3(3914), LAMB2(3913), ELN(2006), LAMC2(3918), VPS13A(23230), IQCB1(9657), LAMA3(3909), LCAT(3931), LBR(3930), MLC1(23209), ELANE(1991), LAMP2(3920), DNAI1(27019), CDC73(79577), KRT17(3872), PTPN11(5781), L1CAM(3897), EIF2B1(1967), NPHP3(27031), FREM2(341640), KRT6B(3854), ADAMTSL2(9719), KRT6A(3853), KRT3(3850), KRT4(3851), NLRP3(114548), KRAS(3845), EFNB1(1947), SUMF1(285362), SEMA3E(9723), KRT16(3868), KRT14(3861), KRT13(3860), KRT12(3859), PVRL1(5818)]
HEAD AND NECK ABNORMALITY(HP:0000152)	[FBN1(2200), ADAMTSL4(54507), FBN2(2201), HIBCH(26275), EFEMP1(2202), TINF2(26277), SPINK5(11005), SACS(26278), CCBE1(147372), DPM1(8813), EDARADD(128178), SLC16A2(6567), KCNQ1OT1(10984), ABCA1(19), HESX1(8820), SNAI2(6591), FANCD2(2177), FANCC(2176), ABCA4(24), FANCE(2178), ACADS(35), ACADSB(36), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), MPZ(4359), MPV17(4358), ACTA1(58), PUS1(80324), WNT10A(80326), TNFRSF11A(8792), ACTB(60), SNRPN(6638), ACTG1(71), UPF3B(65109), FH(2271), FGFR1(2260), FGFR3(2261), FGFR2(2263), FGF14(2259), FAM83H(286077), FGF10(2255), SOS1(6654), FGF3(2248), FGD1(2245), ACY1(95), ACVRL1(94), EDAR(10913), GDF6(392255), ACVR1(90), SMN1(6606), FOXC2(2303), ADA(100), FOXE3(2301), FOXI1(2299), SMCR(6600), FOXC1(2296), NDUFA11(126328), WNK1(65125), TRPV4(59341), SMS(6611), TUBB2B(347733), SMPD1(6609), ERBB3(2065), ABCA12(26154), ERCC2(2068), ERCC3(2071), EYA4(2070), PHOX2B(8929), ERCC4(2072), SGCB(6443), ERCC6(2074), MTM1(4534), SGSH(6448), TMEM67(91147), MTHFR(4524), BLOC1S3(388552), SH3BP2(6452), CLN8(2055), MFRP(83552), PRPF31(26121), AGA(175), MFSD8(256471), SPG11(80208), SGCE(8910), SOX18(54345), MTMR2(8898), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), AGTR1(185), MIPOL1(145282), AHCY(191), AGXT(189), AGL(178), KIAA1279(26128), OPA3(80207), JAG1(182), AGT(183), MSX1(4487), GJB6(10804), SQSTM1(8878), SEPT9(10801), SIX3(6496), ST3GAL5(8869), CEP290(80184), MVK(4598), MUSK(4593), EYA1(2138), EIF2B2(8892), EIF2B5(8893), TRIM37(4591), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), ABCD1(215), EVC(2121), PHGDH(26227), PCDH15(65217), SMARCAL1(50485), FRAS1(80144), SHH(6469), PROM1(8842), F11(2160), FANCA(2175), ALDOB(229), TSEN54(283989), ALDOA(226), SHOX(6473), ALDH3A2(224), ALPL(249), F10(2159), MTTP(4547), F5(2153), BIN1(274), SCN9A(6335), CLDN1(9076), SCN1A(6323), ANCR(282), HPS5(11234), MAPT(4137), MAT1A(4143), SLC6A19(340024), ATXN7(6314), ATXN8OS(6315), SLC4A11(83959), ALX3(257), AMELY(266), AMELX(265), ATXN1(6310), ATXN2(6311), SC5DL(6309), SALL1(6299), SAT1(6303), RAB39B(116442), AIP(9049), NUP62(23636), DCAF17(80067), SAG(6295), C10orf2(56652), SLC25A4(291), SLC17A5(26503), CNNM4(26504), MAN2B1(4125), MANBA(4126), TRAPPC2(6399), SLC6A20(54716), APOB(338), CNGB3(54714), SDHD(6392), APOA2(336), SDHC(6391), SDHB(6390), INPP5E(56623), SDHA(6389), MECP2(4204), APOE(348), PDP1(54704), APOC2(344), AIRE(326), APC(324), PIKFYVE(200576), APOA1(335), PDSS1(23590), FUCA1(2517), MEN1(4221), FTL(2512), BSCL2(26580), CHST6(4166), SLC37A4(2542), ABCC6(368), G6PC(2538), PANK2(80025), GAA(2548), AR(367), ARSA(410), ARSB(411), FOXE1(2304), ARSE(415), LARGE(9215), STS(412), RPS6KA3(6197), MGP(4256), PHOX2A(401), GRHL2(79977), FLNA(2316), FLNB(2317), MID1(4281), ATXN3(4287), MITF(4286), FMR1(2332), ASPA(443), OSMR(9180), TRIOBP(11078), KERA(11081), L2HGDH(79944), ASAH1(427), ASCL1(429), MGAT2(4247), CTDP1(9150), ATP1A3(478), RYR1(6261), ATP1A2(477), ATM(472), ATIC(471), RS1(6247), KCNQ4(9132), PRPF3(9129), FXN(2395), MOCS2(4338), MOCS1(4337), HYLS1(219844), ANTXR2(118429), MMP2(4313), ATP2A2(488), HPS4(89781), TH(7054), AVP(551), MERTK(10461), AUH(549), ATRX(546), TGIF1(7050), NPR2(4882), ATXN8(724066), ATR(545), TGFBR1(7046), CLN6(54982), TGFBI(7045), TGFB1(7040), GLI3(2737), GLE1(2733), THRB(7068), NPHP1(4867), NPC1(4864), EMG1(10436), MYO15A(51168), GLB1(2720), TK2(7084), COLQ(8292), GLA(2717), GPC3(2719), NKX2-1(7080), NTRK1(4914), CRTAP(10491), SEC23A(10484), ATP6V1B1(525), GK(2710), TIMP3(7078), ROR2(4920), DDR2(4921), GJB2(2706), GTF2H5(404672), GJA8(2703), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), ATP7B(540), PROKR2(128674), GH1(2688), GHR(2690), ATP7A(538), SAR1B(51128), GP1BA(2811), MKKS(8195), OPN1SW(611), GP9(2815), GP1BB(2812), OCA2(4948), NDRG1(10397), GDF5(8200), OCRL(4952), BCS1L(617), COL18A1(80781), BDNF(627), GPR143(4935), GNS(2799), ATXN10(25814), TUBB3(10381), TNFRSF1A(7132), OAT(4942), OPA1(4976), ABHD5(51099), GNAS(2778), TNFRSF11B(4982), BBS1(582), OPHN1(4983), BBS2(583), TNNI2(7136), BBS4(585), TNNT3(7140), NIPBL(25836), SIX6(4990), SDHAF2(54949), GM2A(2760), CCND1(595), KDM5C(8242), BTD(686), PLA2G6(8398), TBXAS1(6916), TBX15(6913), EFEMP2(30008), TMPRSS3(64699), TBX21(30009), GATA1(2623), TBX3(6926), CC2D1A(54862), BRAF(673), BUB1B(701), GALT(2592), BTK(695), TCIRG1(10312), TCOF1(6949), PAH(5053), GALC(2581), TCN2(6948), BMP4(652), GALE(2582), BCOR(54880), GALNS(2588), GALNT3(2591), BLM(641), PSAT1(29968), GALK1(2584), BFSP2(8419), FOXL2(668), MKS1(54903), GNPAT(8443), C20orf54(113278), MRPS16(51021), POMT2(29954), GAD1(2571), PAX6(5080), GGCX(2677), B4GALT1(2683), FZD4(8322), PAX3(5077), ZMPSTE24(10269), PAX2(5076), CA4(762), GPHN(10243), CA2(760), GDF1(2657), RAX(30062), AHI1(54806), FAM20C(56975), DYM(54808), SAMD9(54809), TEAD1(7003), GFAP(2670), PAK3(5063), TECTA(7007), GDNF(2668), COQ9(57017), TEK(7010), GCK(2645), PCNT(5116), TERC(7012), TERT(7015), SOST(50964), CHST14(113189), TF(7018), TFAP2B(7021), OPN1MW(2652), TFAP2A(7020), SERPING1(710), PCCB(5096), GATA3(2625), TBX22(50945), GBA(2629), APTX(54840), TG(7038), GCDH(2639), CABC1(56997), PCCA(5095), PITPNM3(83394), MYCN(4613), P2RY12(64805), GUSB(2990), SLURP1(57152), SALL4(57167), MYH3(4621), GJC2(57165), GUCA1A(2978), MYF6(4618), IKBKG(8517), MYH11(4629), IKBKAP(8518), PDE11A(50940), CDKL5(6792), GUCY2D(3000), MYH8(4626), USH1G(124590), STK11(6794), AURKC(6795), MYH9(4627), FOXP2(93986), ELOVL4(6785), CANT1(124583), MYO7A(4647), SEPN1(57190), MYOC(4653), MCOLN1(57192), SURF1(6834), ABCC8(6833), CACNA1A(773), AP3B1(8546), RAI1(10743), NAGA(4668), NAGLU(4669), SUOX(6821), ICOS(29851), CACNA1F(778), TAF1(6872), HCCS(3052), KRIT1(889), NYX(60506), EVC2(132884), ALG6(29929), NBN(4683), CYP2R1(120227), HTT(3064), PDSS2(57107), CUL4B(8450), NDN(4692), NDP(4693), NDUFA1(4694), NDUFA2(4695), CBS(875), HCRT(3060), SYN1(6853), NEB(4703), ALX4(60529), TBCE(6905), TBP(6908), TBX1(6899), ATCAY(85300), PORCN(64840), PEX3(8504), NDUFS1(4719), RUNX1(861), RUNX2(860), EBP(10682), TAP1(6890), NDUFS3(4722), TAP2(6891), NDUFV1(4723), DLL3(10683), NDUFS2(4720), HADHB(3032), OFD1(8481), BBS7(55212), NDUFS6(4726), CLDN16(10686), TAPBP(6892), NDUFS4(4724), AGRN(375790), UBIAD1(29914), NDUFS8(4728), CASP8(841), CASR(846), HADHA(3030), HSD17B10(3028), PRSS12(8492), SLC4A4(8671), CD40LG(959), SLC19A2(10560), SPG7(6687), NDUFAF2(91942), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), NF1(4763), NSDHL(50814), NEU1(4758), ANO5(203859), POMT1(10585), PRPF8(10594), NDUFAF3(25915), D2HGDH(728294), NF2(4771), SPTBN2(6712), PNPO(55163), GFM1(85476), THAP1(55145), SPR(6697), TNFSF11(8600), NHS(4810), GRM6(2916), NGF(4803), CDH3(1001), FBLN5(10516), GSN(2934), NME1(4830), GSS(2937), ST14(6768), STAT3(6774), TP63(8626), MMACHC(25974), SSTR5(6755), PNP(4860), SLC34A3(142680), AGPAT2(10555), PNKD(25953), SPTLC1(10558), NOTCH3(4854), FKRP(79147), CHAT(1103), MMADHC(27249), HSD17B4(3295), H19(283120), DNAJC19(131118), HSD11B2(3291), SLC35C1(55343), HRAS(3265), COQ2(27235), CDH23(64072), DOLK(22845), CTSA(5476), PPIB(5479), MATR3(9782), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), TMC1(117531), PPARG(5468), NOD2(64127), LYST(1130), CHML(1122), POU3F4(5456), CHM(1121), HSF4(3299), C20orf7(79133), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), CHRNB1(1140), ZEB2(9839), CDKN1B(1027), BBS12(166379), CDKN1C(1028), POLG(5428), POLH(5429), HOXA11(3207), CECR(1055), POLA1(5422), ASPM(259266), C8orf38(137682), CNBP(7555), HPGD(3248), HPS1(3257), HOXD13(3239), FASTKD2(22868), CUL7(9820), CTSC(1075), GNPTG(84572), PMP22(5376), PRNP(5621), TRIM32(22954), PRPS1(5631), ROBO3(64221), STRA6(64220), PROC(5624), MAP2K1(5604), MAP2K2(5605), ZIC1(7545), MAPK10(5602), FAM126A(84668), HOXA2(3199), CNGA3(1261), CNGB1(1258), PRKAR1A(5573), PRKCG(5582), COL1A2(1278), RPIA(22934), XPC(7508), ZNF469(84627), COL1A1(1277), RAB3GAP1(22930), XPA(7507), WHCR(7467), WFS1(7466), WHSC1(7468), ERCC8(1161), MED12(9968), HGD(3081), HGF(3082), PPT1(5538), WRN(7486), BEAN(146227), WNT3(7473), HEXA(3073), HEXB(3074), CFH(3075), WNT7A(7476), NOP10(55505), CLCN7(1186), PPP2R2B(5521), FRMD7(90167), BEST1(7439), MFN2(9927), VLDLR(7436), CLCNKB(1188), VHL(7428), PPP1R3A(5506), VWF(7450), CLN5(1203), TPP1(1200), CLN3(1201), WAS(7454), GORAB(92344), LEPRE1(64175), PGK1(5230), NSD1(64324), VDR(7421), FERMT1(55612), ESCO2(157570), USH2A(7399), CP(1356), COX15(1355), KIF21A(55605), GNE(10020), IHH(3549), CLRN1(7401), UQCRB(7381), UPK3A(7380), CRX(1406), SLC2A10(81031), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), UROS(7390), IL2RG(3561), CRH(1392), PEPD(5184), NR2E3(10002), SCO2(9997), CREBBP(1387), SIL1(64374), SLC12A6(9990), CPT2(1376), UCHL1(7345), PDHA1(5160), COMP(1311), COL17A1(1308), NHP2(55651), COL8A2(1296), COL11A2(1302), PDE6B(5158), COL11A1(1301), COL5A2(1290), COL6A1(1291), COL4A6(1288), COL5A1(1289), COL7A1(1294), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), GPC6(10082), COL4A1(1282), USH1C(10083), IGF1R(3480), COL2A1(1280), UBE3A(7337), COL3A1(1281), COL4A4(1286), COL4A5(1287), PQBP1(10084), TTC8(123016), PEX26(55670), SLC26A4(5172), COL4A3(1285), LMNB2(84823), POMGNT1(55624), UBB(7314), VPS13B(157680), UBA1(7317), COX6B1(1340), SLC39A4(55630), FLVCR2(55640), TYR(7299), TTBK2(146057), TYRP1(7306), CHD7(55636), SLC25A15(10166), PLOD1(5351), TWIST1(7291), TULP1(7287), PLP1(5354), PLOD2(5352), CTNS(1497), IDS(3423), IYD(389434), TTR(7276), TTPA(7274), TTN(7273), AASS(10157), PMM2(5373), NKX2-5(1482), OPTN(10133), LRPPRC(10128), PKHD1(5314), TSPYL1(7259), TSHB(7252), TSHR(7253), SP110(3431), TSC1(7248), TSC2(7249), CFI(3426), CTSD(1509), ENAM(10117), ARX(170302), MBTPS2(51360), PLG(5340), CTSK(1513), PLEC(5339), HSPG2(3339), TRPS1(7227), CD96(10225), HSPD1(3329), LMBRD1(55788), CRYBA1(1411), CRYAB(1410), PITX3(5309), CRYGD(1421), MLPH(79083), HR(55806), PITX2(5308), ALG3(10195), PHEX(5251), HYAL1(3373), VCAN(1462), DCLRE1C(64421), CDK5RAP2(55755), CSF3R(1441), PHYH(5264), TPM2(7169), TPM3(7170), TPO(7173), SH3TC2(79628), RET(5979), DDB2(1643), CENPJ(55835), DCX(1641), DDC(1644), GAN(8139), DCTN1(1639), ACE(1636), REN(5972), DCR(1637), SATB2(23314), RDX(5962), NOG(9241), PRPH2(5961), GCM2(9247), ADAMTS10(81794), CRLF1(9244), RPGRIP1L(23322), RDH5(5959), SPATA7(55812), RCVRN(5957), OPN1LW(5956), SBF2(81846), RHO(6010), GRK1(6011), DYNC2H1(79659), MCPH1(79648), MARVELD2(153562), VANGL1(81839), KCNQ1(3784), DBH(1621), NPHP4(261734), NDUFS7(374291), KCNJ11(3767), GPR56(9289), CYP4V2(285440), RAPSN(5913), FGF23(8074), KCNJ13(3769), AAAS(8086), KCNC3(3748), CYP27B1(1594), RAG2(5897), CYP27A1(1593), UROC1(131669), RAG1(5896), KCNJ2(3759), KCNJ1(3758), GPR98(84059), DTNBP1(84062), RBP4(5950), TRIP11(9321), CYP1B1(1545), KAL1(3730), NDUFAF4(29078), ATP13A2(23400), PABPN1(8106), BBS10(79738), ZFPM2(23414), SNAP29(9342), FAM123B(139285), DOK7(285489), RB1(5925), CRB1(23418), SLC25A22(79751), DMPK(1760), RPGR(6103), RP2(6102), RP1(6101), ZIC4(84107), RP9(6100), ARL6(84100), B4GALT7(11285), ITGB3(3690), ITGB4(3691), ITGB2(3689), ALS2(57679), TREX1(11277), KL(9365), DNM2(1785), ROM1(6094), LHX3(8022), DNMT3B(1789), DIAPH1(1729), ITGA2B(3674), DIO1(1733), OTOF(9381), ZFHX4(79776), DLAT(1737), DKC1(1736), IRF6(3664), PARK7(11315), DLD(1738), MYH14(79784), DLX3(1747), RECQL4(9401), RPE65(6121), PDHX(8050), ETHE1(23474), HPS6(79803), DMP1(1758), ITGA6(3655), ZFYVE26(23503), EHMT1(79813), INSR(3643), TNFRSF13B(23495), INS(3630), DHCR24(1718), RMRP(6023), DGUOK(1716), DHCR7(1717), DGCR(1714), OSTM1(28962), RLBP1(6017), CYB5R3(1727), SH3PXD2B(285590), EPM2A(7957), ITM2B(9445), HGSNAT(138050), ALG1(56052), IMPDH1(3614), CLCF1(23529), ROBLD3(28956), TIMM8A(1678), EIF2AK3(9451), DES(1674), DFNA5(1687), ATP6V0A2(23545), ARHGEF6(9459), CHST3(9469), TBX4(9496), CLDN19(149461), SH2D1A(4068), BBS5(129880), TACSTD2(4070), SETX(23064), EDNRA(1909), EDN3(1908), EDNRB(1910), EDA(1896), PTCH1(5727), TYMP(1890), PTGS1(5742), KIF1B(23095), PTH(5741), LRP2(4036), LRP5(4041), PTEN(5728), VSX1(30813), ALDH5A1(7915), RAB23(51715), PTH1R(5745), DYT3(1863), TOR1A(1861), ADAMTS2(9509), LMNB1(4001), LMNA(4000), C1QTNF5(114902), LOX(4015), NHLRC1(378884), LMX1B(4010), PRPS2(5634), SLC26A2(1836), SPG20(23111), LPL(4023), PHF6(84295), DSP(1832), BSND(7809), DSPP(1834), NLGN4X(57502), RELN(5649), ANKH(56172), HPS3(84343), DRD2(1813), LIFR(3977), TUBA1A(7846), LIPA(3988), ALMS1(7840), MOGS(7841), DPAGT1(1798), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), LDLR(3949), KLK4(9622), PEX5(5830), ENG(2022), UQCRQ(27089), SLC35D1(23169), SLC36A2(153201), LAMB3(3914), LAMB2(3913), ELN(2006), LAMC2(3918), VPS13A(23230), EMD(2010), IQCB1(9657), LAMA3(3909), LCAT(3931), LBR(3930), MLC1(23209), ELANE(1991), LAMP2(3920), DNAI1(27019), CDC73(79577), KRT17(3872), PTPN11(5781), L1CAM(3897), EIF2B1(1967), NPHP3(27031), FREM2(341640), KRT85(3891), KRT6B(3854), ADAMTSL2(9719), KRT6A(3853), KRT3(3850), KRT4(3851), NLRP3(114548), KRAS(3845), EFNB1(1947), SUMF1(285362), SEMA3E(9723), DUOXA2(405753), KRT16(3868), KRT14(3861), KRT13(3860), KRT12(3859), PVRL1(5818)]
HEAD NODDING(HP:0001361)	[GPR143(4935)]
HEAD TITUBATION(HP:0002599)	[GJC2(57165)]
HEAD TREMOR(HP:0002346)	[PPP2R2B(5521), FGF14(2259)]
HEADACHE(HP:0002315)	[ATP1A2(477), DNAI1(27019), SDHD(6392), SCN1A(6323), KRIT1(889), SDHC(6391), SDHB(6390), MVK(4598), EDNRA(1909), POLG(5428), TGFB1(7040), TTR(7276), ENG(2022), COL4A1(1282), CYB5R3(1727), ACVRL1(94), NLRP3(114548), SOST(50964), LRP5(4041), NF2(4771), C10orf2(56652), VHL(7428), MSX2(4488), CACNA1A(773), VANGL1(81839), NOTCH3(4854)]
HEADACHE (WITH PHEOCHROMOCYTOMA)(HP:0002331)	[SDHD(6392), SDHC(6391)]
HEARING ABNORMALITY(HP:0000364)	[SH3TC2(79628), FBN1(2200), ATRX(546), CCBE1(147372), TGFB1(7040), GLI3(2737), DCR(1637), RDX(5962), NOG(9241), THRB(7068), COQ2(27235), CDH23(64072), FANCD2(2177), CTSA(5476), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), MYO15A(51168), GLB1(2720), SBF2(81846), TK2(7084), TMC1(117531), GPC3(2719), ATP6V1B1(525), POU3F4(5456), GJB2(2706), MARVELD2(153562), ACOX1(51), C20orf7(79133), MPZ(4359), GJA1(2697), CHRNG(1146), POR(5447), KCNQ1(3784), TNFRSF11A(8792), ACTB(60), NDUFS7(374291), MKKS(8195), ACTG1(71), NDRG1(10397), FGFR1(2260), FGFR3(2261), GDF5(8200), BCS1L(617), FGFR2(2263), BBS12(166379), POLG(5428), FGF10(2255), SOS1(6654), GNS(2799), FGF3(2248), HOXA11(3207), POLA1(5422), ACY1(95), GPR98(84059), GDF6(392255), ACVR1(90), C8orf38(137682), OPA1(4976), ABHD5(51099), GNAS(2778), FOXI1(2299), BBS1(582), SMCR(6600), BBS2(583), BBS4(585), NDUFA11(126328), NDUFAF4(29078), NIPBL(25836), SDHAF2(54949), BBS10(79738), SNAP29(9342), FAM123B(139285), FASTKD2(22868), PMP22(5376), PLA2G6(8398), BTD(686), ERCC2(2068), ERCC3(2071), TRIM32(22954), TMPRSS3(64699), EYA4(2070), ARL6(84100), GATA1(2623), PRPS1(5631), ERCC6(2074), BRAF(673), MAP2K1(5604), SGSH(6448), MAP2K2(5605), BTK(695), LHX3(8022), TCIRG1(10312), TCOF1(6949), DIAPH1(1729), GALC(2581), HOXA2(3199), GALE(2582), OTOF(9381), BCOR(54880), GALNS(2588), DLD(1738), MYH14(79784), MKS1(54903), C20orf54(113278), COL1A2(1278), RECQL4(9401), ZNF469(84627), COL1A1(1277), XPA(7507), DMP1(1758), WHCR(7467), WFS1(7466), SQSTM1(8878), EHMT1(79813), WHSC1(7468), ERCC8(1161), CEP290(80184), PAX3(5077), EYA1(2138), PAX2(5076), MED12(9968), HGF(3082), DHCR7(1717), BEAN(146227), TECTA(7007), PCDH15(65217), ITM2B(9445), FRAS1(80144), COQ9(57017), HGSNAT(138050), MFN2(9927), SOST(50964), CLCNKB(1188), FANCA(2175), TIMM8A(1678), TFAP2A(7020), GATA3(2625), DFNA5(1687), ARHGEF6(9459), APTX(54840), CABC1(56997), MYCN(4613), GUSB(2990), BBS5(129880), SALL4(57167), NSD1(64324), EDNRB(1910), USH2A(7399), ALX3(257), GUCY2D(3000), COX15(1355), USH1G(124590), MYH9(4627), TYMP(1890), SC5DL(6309), CLRN1(7401), UQCRB(7381), MYO7A(4647), SALL1(6299), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), DCAF17(80067), SURF1(6834), C10orf2(56652), CACNA1A(773), SLC25A4(291), CREBBP(1387), RAI1(10743), NAGA(4668), RAB23(51715), PTH1R(5745), NAGLU(4669), MAN2B1(4125), MANBA(4126), HCCS(3052), SDHD(6392), SDHC(6391), SDHB(6390), SDHA(6389), COL11A2(1302), COL11A1(1301), LMX1B(4010), PRPS2(5634), SLC26A2(1836), PDSS2(57107), COL4A6(1288), NDP(4693), IGF1(3479), BSND(7809), DSPP(1834), IGBP1(3476), NDUFA1(4694), NDUFA2(4695), PDSS1(23590), USH1C(10083), COL2A1(1280), FUCA1(2517), COL4A4(1286), COL4A5(1287), PQBP1(10084), PEX26(55670), TTC8(123016), SLC26A4(5172), COL4A3(1285), ANKH(56172), COX6B1(1340), PORCN(64840), PEX3(8504), NDUFS1(4719), RUNX2(860), EBP(10682), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), OFD1(8481), TYR(7299), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), GAA(2548), NDUFS8(4728), CHD7(55636), HSD17B10(3028), PEX19(5824), ARSB(411), EP300(2033), PEX2(5828), SLC19A2(10560), ARSE(415), TWIST1(7291), PEX5(5830), RPS6KA3(6197), MGP(4256), NDUFAF2(91942), GRHL2(79977), FLNA(2316), FLNB(2317), IDS(3423), SOX10(6663), SOX9(6662), TTR(7276), SOX2(6657), MITF(4286), UQCRQ(27089), NSDHL(50814), NEU1(4758), ASPA(443), NDUFAF3(25915), TRIOBP(11078), NF2(4771), L2HGDH(79944), ATP1A2(477), DNAI1(27019), PTPN11(5781), KCNQ4(9132), FREM2(341640), PHEX(5251), NLRP3(114548), TP63(8626), KRAS(3845), SEMA3E(9723), SUMF1(285362), PHYH(5264), SPTLC1(10558)]
HEARING LOSS(HP:0000365)	[SH3TC2(79628), FBN1(2200), ATRX(546), CCBE1(147372), TGFB1(7040), GLI3(2737), DCR(1637), RDX(5962), NOG(9241), THRB(7068), COQ2(27235), CDH23(64072), FANCD2(2177), CTSA(5476), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), MYO15A(51168), GLB1(2720), SBF2(81846), TK2(7084), TMC1(117531), GPC3(2719), ATP6V1B1(525), POU3F4(5456), GJB2(2706), MARVELD2(153562), ACOX1(51), C20orf7(79133), MPZ(4359), GJA1(2697), CHRNG(1146), POR(5447), KCNQ1(3784), TNFRSF11A(8792), ACTB(60), NDUFS7(374291), MKKS(8195), ACTG1(71), NDRG1(10397), FGFR1(2260), FGFR3(2261), GDF5(8200), BCS1L(617), FGFR2(2263), BBS12(166379), POLG(5428), FGF10(2255), SOS1(6654), GNS(2799), FGF3(2248), HOXA11(3207), POLA1(5422), ACY1(95), GPR98(84059), GDF6(392255), ACVR1(90), C8orf38(137682), OPA1(4976), ABHD5(51099), GNAS(2778), FOXI1(2299), BBS1(582), SMCR(6600), BBS2(583), BBS4(585), NDUFA11(126328), NDUFAF4(29078), NIPBL(25836), BBS10(79738), SNAP29(9342), FAM123B(139285), FASTKD2(22868), PMP22(5376), PLA2G6(8398), BTD(686), ERCC2(2068), ERCC3(2071), TRIM32(22954), TMPRSS3(64699), EYA4(2070), ARL6(84100), GATA1(2623), PRPS1(5631), ERCC6(2074), BRAF(673), MAP2K1(5604), SGSH(6448), MAP2K2(5605), BTK(695), LHX3(8022), TCIRG1(10312), TCOF1(6949), DIAPH1(1729), GALC(2581), HOXA2(3199), GALE(2582), OTOF(9381), BCOR(54880), GALNS(2588), DLD(1738), MYH14(79784), MKS1(54903), C20orf54(113278), COL1A2(1278), RECQL4(9401), ZNF469(84627), COL1A1(1277), XPA(7507), DMP1(1758), WHCR(7467), WFS1(7466), SQSTM1(8878), EHMT1(79813), WHSC1(7468), ERCC8(1161), CEP290(80184), PAX3(5077), EYA1(2138), PAX2(5076), MED12(9968), HGF(3082), DHCR7(1717), BEAN(146227), TECTA(7007), PCDH15(65217), ITM2B(9445), FRAS1(80144), COQ9(57017), HGSNAT(138050), MFN2(9927), SOST(50964), CLCNKB(1188), FANCA(2175), TIMM8A(1678), TFAP2A(7020), GATA3(2625), DFNA5(1687), ARHGEF6(9459), APTX(54840), CABC1(56997), MYCN(4613), GUSB(2990), BBS5(129880), SALL4(57167), NSD1(64324), EDNRB(1910), USH2A(7399), ALX3(257), GUCY2D(3000), COX15(1355), USH1G(124590), MYH9(4627), TYMP(1890), SC5DL(6309), CLRN1(7401), UQCRB(7381), MYO7A(4647), SALL1(6299), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), DCAF17(80067), SURF1(6834), C10orf2(56652), SLC25A4(291), CREBBP(1387), RAI1(10743), NAGA(4668), RAB23(51715), PTH1R(5745), NAGLU(4669), MAN2B1(4125), MANBA(4126), HCCS(3052), SDHD(6392), SDHA(6389), COL11A2(1302), COL11A1(1301), LMX1B(4010), PRPS2(5634), SLC26A2(1836), PDSS2(57107), COL4A6(1288), NDP(4693), IGF1(3479), BSND(7809), DSPP(1834), IGBP1(3476), NDUFA1(4694), NDUFA2(4695), PDSS1(23590), USH1C(10083), COL2A1(1280), FUCA1(2517), COL4A4(1286), COL4A5(1287), PQBP1(10084), PEX26(55670), TTC8(123016), SLC26A4(5172), COL4A3(1285), ANKH(56172), COX6B1(1340), PORCN(64840), PEX3(8504), NDUFS1(4719), RUNX2(860), EBP(10682), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), OFD1(8481), TYR(7299), BBS7(55212), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), GAA(2548), NDUFS8(4728), CHD7(55636), HSD17B10(3028), PEX19(5824), ARSB(411), EP300(2033), PEX2(5828), SLC19A2(10560), ARSE(415), TWIST1(7291), PEX5(5830), RPS6KA3(6197), MGP(4256), NDUFAF2(91942), GRHL2(79977), FLNA(2316), FLNB(2317), IDS(3423), SOX10(6663), SOX9(6662), TTR(7276), SOX2(6657), MITF(4286), UQCRQ(27089), NSDHL(50814), NEU1(4758), ASPA(443), NDUFAF3(25915), TRIOBP(11078), NF2(4771), L2HGDH(79944), ATP1A2(477), DNAI1(27019), PTPN11(5781), KCNQ4(9132), FREM2(341640), PHEX(5251), NLRP3(114548), TP63(8626), KRAS(3845), SEMA3E(9723), SUMF1(285362), PHYH(5264), SPTLC1(10558)]
HEARING LOSS, CONDUCTIVE(HP:0000405)	[FBN1(2200), TMPRSS3(64699), EYA4(2070), GATA1(2623), CCBE1(147372), NSD1(64324), MGP(4256), GRHL2(79977), FLNA(2316), FLNB(2317), DCR(1637), EDNRB(1910), RDX(5962), NOG(9241), ALX3(257), MYH9(4627), CDH23(64072), UQCRQ(27089), LHX3(8022), MYO15A(51168), SC5DL(6309), TCOF1(6949), DIAPH1(1729), UQCRB(7381), MYO7A(4647), TMC1(117531), OTOF(9381), TRIOBP(11078), LRP5(4041), POU3F4(5456), GJB2(2706), MYH14(79784), GJA1(2697), CHRNG(1146), POR(5447), RECQL4(9401), TNFRSF11A(8792), RAB23(51715), ACTG1(71), SQSTM1(8878), WFS1(7466), DNAI1(27019), SDHD(6392), FGFR3(2261), GDF5(8200), FGFR2(2263), BCS1L(617), COL11A2(1302), EYA1(2138), FGF10(2255), HGF(3082), KCNQ4(9132), FGF3(2248), DSPP(1834), USH1C(10083), COL2A1(1280), FREM2(341640), TECTA(7007), GDF6(392255), SLC26A4(5172), PCDH15(65217), ACVR1(90), OPA1(4976), ANKH(56172), FRAS1(80144), FOXI1(2299), SOST(50964), TP63(8626), PORCN(64840), SEMA3E(9723), NIPBL(25836), TFAP2A(7020), DFNA5(1687), FAM123B(139285), CHD7(55636)]
HEARING LOSS, CONGENITAL, SENSORINEURAL, MODERATE-SEVERE(HP:0008612)	[USH2A(7399), GPR98(84059)]
HEARING LOSS, PROFOUND CONGENITAL SENSORINEURAL(HP:0008521)	[PCDH15(65217)]
HEARING LOSS, SENSORINEURAL(HP:0000407)	[ATRX(546), SALL4(57167), CCBE1(147372), EDNRB(1910), RDX(5962), USH2A(7399), NOG(9241), GUCY2D(3000), COX15(1355), USH1G(124590), MYH9(4627), COQ2(27235), CDH23(64072), TYMP(1890), UBR1(197131), MYO15A(51168), CLRN1(7401), UQCRB(7381), SBF2(81846), MYO7A(4647), TMC1(117531), SALL1(6299), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), ATP6V1B1(525), PEX7(5191), LRP5(4041), DCAF17(80067), SURF1(6834), POU3F4(5456), GJB2(2706), C10orf2(56652), ACOX1(51), SLC25A4(291), MPZ(4359), C20orf7(79133), KCNQ1(3784), NAGA(4668), RAB23(51715), TNFRSF11A(8792), MAN2B1(4125), ACTB(60), NDUFS7(374291), ACTG1(71), FGFR1(2260), FGFR3(2261), SDHA(6389), BCS1L(617), POLG(5428), COL11A2(1302), COL11A1(1301), LMX1B(4010), PDSS2(57107), COL4A6(1288), FGF10(2255), SOS1(6654), NDP(4693), FGF3(2248), IGF1(3479), BSND(7809), HOXA11(3207), DSPP(1834), IGBP1(3476), NDUFA1(4694), NDUFA2(4695), PDSS1(23590), USH1C(10083), ACY1(95), COL2A1(1280), GPR98(84059), COL4A5(1287), PEX26(55670), GDF6(392255), SLC26A4(5172), C8orf38(137682), ACVR1(90), OPA1(4976), ABHD5(51099), ANKH(56172), COX6B1(1340), FOXI1(2299), PORCN(64840), NDUFA11(126328), PEX3(8504), NDUFAF4(29078), NDUFS1(4719), NIPBL(25836), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), SNAP29(9342), NDUFS6(4726), NDUFS4(4724), FASTKD2(22868), ALMS1(7840), NDUFS8(4728), PMP22(5376), CHD7(55636), HSD17B10(3028), PEX19(5824), BTD(686), PEX2(5828), SLC19A2(10560), ERCC2(2068), PEX5(5830), ERCC3(2071), TMPRSS3(64699), RPS6KA3(6197), EYA4(2070), PRPS1(5631), MGP(4256), ERCC6(2074), NDUFAF2(91942), GRHL2(79977), FLNB(2317), SOX10(6663), SOX2(6657), MITF(4286), UQCRQ(27089), NEU1(4758), LHX3(8022), DIAPH1(1729), HOXA2(3199), GALE(2582), NDUFAF3(25915), OTOF(9381), TRIOBP(11078), BCOR(54880), DLD(1738), MYH14(79784), C20orf54(113278), COL1A2(1278), COL1A1(1277), XPA(7507), DMP1(1758), ATP1A2(477), WFS1(7466), SQSTM1(8878), ERCC8(1161), PAX3(5077), PAX2(5076), EYA1(2138), MED12(9968), PTPN11(5781), HGF(3082), KCNQ4(9132), BEAN(146227), TECTA(7007), PCDH15(65217), COQ9(57017), PHEX(5251), MFN2(9927), SOST(50964), NLRP3(114548), CLCNKB(1188), TIMM8A(1678), SEMA3E(9723), TFAP2A(7020), GATA3(2625), PHYH(5264), DFNA5(1687), ARHGEF6(9459), APTX(54840), SPTLC1(10558), CABC1(56997)]
HEARING LOSS, SENSORINEURAL, BILATERAL(HP:0008619)	[MYO7A(4647), ACOX1(51)]
HEARING LOSS, SENSORINEURAL, BILATERAL PROFOUND CONGENITAL(HP:0008540)	[MITF(4286)]
HEARING LOSS, SENSORINEURAL, BILATERAL, PROGRESSIVE(HP:0008601)	[ACTG1(71)]
HEARING LOSS, SENSORINEURAL, MILD-TO MODERATE(HP:0008614)	[BEAN(146227)]
HEARING LOSS, SENSORINEURAL, MODERATE-SEVERE(HP:0008576)	[GPR98(84059)]
HEARING LOSS, SENSORINEURAL, PROGRESSIVE(HP:0000408)	[OPA1(4976), ACTG1(71), MPZ(4359), ALMS1(7840), MYH9(4627), NLRP3(114548), COL1A2(1278), TIMM8A(1678), COL1A1(1277), MYH14(79784)]
HEARING LOSS, SENSORINEURAL, SEVERE TO PROFOUND(HP:0008534)	[TRIOBP(11078)]
HEART BLOCK(HP:0001668)	[PTPN11(5781), SCN5A(6331), TTR(7276), DMPK(1760), SLC25A20(788), AGXT(189), EMD(2010)]
HEAVY ARCHED EYEBROWS(HP:0007804)	[RPS6KA3(6197)]
HEMANGIOBLASTOMA, SPORADIC CEREBELLAR(HP:0006761)	[CCND1(595), VHL(7428)]
HEMANGIOMAS(HP:0001028)	[EP300(2033), RET(5979), CD96(10225), SDHD(6392), SDHB(6390), DPM1(8813), BRAF(673), GLI3(2737), MAP2K1(5604), PTPN11(5781), SLC26A2(1836), MAP2K2(5605), ESCO2(157570), SOS1(6654), SLC17A3(10786), FLT4(2324), GPC6(10082), GNPTAB(79158), SLC37A4(2542), KIF1B(23095), SEC23A(10484), KRAS(3845), PTEN(5728), TFAP2A(7020), VHL(7428), CCND1(595), OFD1(8481), CREBBP(1387), RECQL4(9401), PTH1R(5745), MGAT2(4247), KDR(3791)]
HEMANGIOMATOSIS(HP:0007461)	[TFAP2A(7020)]
HEMARTHROSES(HP:0001391)	[VWF(7450), WAS(7454), F13A1(2162), GGCX(2677), F9(2158), F10(2159), F8(2157)]
HEMATEMESIS(HP:0002248)	[WAS(7454), ENG(2022), ACVRL1(94)]
HEMATOCHEZIA(HP:0002573)	[ENG(2022), ACVRL1(94)]
HEMATOLOGICAL ABNORMALITY(HP:0001871)	[ATRX(546), MMADHC(27249), TINF2(26277), MMAA(166785), SPINK5(11005), ATR(545), SLC11A2(4891), SLC25A38(54977), DPM1(8813), TGFB1(7040), DNAJC19(131118), DCR(1637), SLC35C1(55343), B2M(567), FAH(2184), NPM1(4869), NPHP1(4867), KIT(3815), THPO(7066), GCLC(2729), ABCB7(22), NPC1(4864), FANCD2(2177), ABL1(25), KLKB1(3818), FANCC(2176), FANCE(2178), HRG(3273), GLB1(2720), FECH(2235), GLA(2717), LYST(1130), PICALM(8301), RHAG(6005), SEC23B(10483), TMPRSS6(164656), RFX5(5993), GTF2H5(404672), MPO(4353), MPL(4352), GJA5(2702), RFXAP(5994), MPV17(4358), ACP2(53), ATP7B(540), KCNQ1(3784), PUS1(80324), GIF(2694), SAR1B(51128), NPHP4(261734), GP1BA(2811), ARHGEF12(23365), FH(2271), RARA(5914), GP9(2815), GP1BB(2812), BCR(613), CYP4V2(285440), NDRG1(10397), BCS1L(617), CDKN2A(1029), CEBPA(1050), CEBPE(1053), HOXA11(3207), SBDS(51119), RAG2(5897), POLA1(5422), RAG1(5896), FGB(2244), ACVRL1(94), FGA(2243), DTNBP1(84062), FES(2242), CYP2A6(1548), ABHD5(51099), HPRT1(3251), CNBP(7555), MSH2(4436), ADA(100), SFTPA2(729238), PMS2(5395), HPS1(3257), NIPBL(25836), JAK2(3717), CCND1(595), BCL2(596), IVD(3712), TCL1A(8115), FASTKD2(22868), TPI1(7167), RB1(5925), OGG1(4968), CYP2C9(1559), BCL3(602), TP53(7157), SMPD1(6609), AMN(81693), TBXAS1(6916), ERCC2(2068), ERCC3(2071), HNF1A(6927), GATA1(2623), PRPS1(5631), PROC(5624), PROS1(5627), ITGB3(3690), ITGB2(3689), BUB1B(701), BLOC1S3(388552), HMBS(3145), GALT(2592), MLLT10(8028), TREX1(11277), CUBN(8029), SH3GL1(6455), SLC46A1(113235), BTK(695), HLCS(3141), TCIRG1(10312), DNMT3B(1789), NUP214(8021), ITGA2(3673), GALC(2581), TCN2(6948), PRKCSH(5589), ITGA2B(3674), SERPINE1(5054), AGA(175), TLX1(3195), ABCG8(64241), ABCG5(64240), DKC1(1736), FTCD(10841), BLM(641), TRA@(6955), BPGM(669), DOCK8(81704), BMPR1A(657), HPS6(79803), ISCU(23479), WHSC1L1(54904), BMPR2(659), AK2(204), WFS1(7466), HK1(3098), PBX1(5087), ACAD9(28976), FLCN(201163), GGCX(2677), AK1(203), MYB(4602), B4GALT1(2683), TNFRSF13B(23495), MVK(4598), MUT(4594), DHFR(1719), RMRP(6023), DGUOK(1716), CA2(760), DGCR(1714), SLC17A3(10786), ALAS2(212), CYB5R3(1727), CFH(3075), ETV6(2120), SLC4A1(6521), ALAD(210), PHGDH(26227), NOP10(55505), SMARCAL1(50485), F13B(2165), TERC(7012), F13A1(2162), TERT(7015), F12(2161), F11(2160), ROBLD3(28956), FANCA(2175), TF(7018), ALDOA(226), GMPS(8833), VHL(7428), PCCB(5096), VWF(7450), CLN3(1201), WAS(7454), F2(2147), GBA(2629), IL12B(3593), MTRR(4552), ALPL(249), F9(2158), F10(2159), MTR(4548), CARD9(64170), F8(2157), MTTP(4547), F7(2155), PCCA(5095), F5(2153), PGK1(5230), P2RY12(64805), LYL1(4066), CPOX(1371), SH2D1A(4068), PGD(5226), CLDN1(9076), SETX(23064), SALL4(57167), HPS5(11234), NSD1(64324), ANK1(286), RNF139(11236), GLRX5(51218), AMBP(259), IKBKG(8517), FOXP3(50943), CP(1356), SLC7A7(9056), STK11(6794), MYH9(4627), SMAD4(4089), SMAD9(4093), SC5DL(6309), UQCRB(7381), MSH6(2956), PTGS1(5742), PEX1(5189), PSTPIP1(9051), UROS(7390), NT5C3(51251), IL2RG(3561), IL3RA(3563), C10orf2(56652), PFKM(5213), AP3B1(8546), SLC17A5(26503), SEC63(11231), CREBBP(1387), UMPS(7372), UNG(7374), ICOS(29851), MAN2B1(4125), IFNGR1(3459), HBG2(3048), SERPIND1(3053), APOB(338), ALG6(29929), HBA2(3040), NHP2(55651), NBN(4683), HBB(3043), APOE(348), PDGFRB(5159), AMACR(23600), HBG1(3047), PDGFRA(5156), AIRE(326), MEFV(4210), COL7A1(1294), FUT1(2523), FUCA1(2517), CBS(875), COL4A5(1287), PEX26(55670), LPP(4026), TBCE(6905), SLC37A4(2542), VPS13B(157680), SLC39A4(55630), COX6B1(1340), G6PD(2539), G6PC(2538), HPS3(84343), TBX1(6899), PSG1(5669), TAZ(6901), RUNX1(861), MCL1(4170), LIPA(3988), PANK2(80025), HBA1(3039), CDAN1(146059), FAS(355), LMAN1(3998), CASP10(843), CXCR4(7852), CASP8(841), CASR(846), TAL1(6886), HAGH(3029), SLC25A15(10166), EP300(2033), CD40(958), SLC4A4(8671), CD40LG(959), PEX2(5828), SLC19A2(10560), DIRC2(84925), EPB42(2038), SERPINF2(5345), STOM(2040), CD36(948), FLNA(2316), CIITA(4261), FLT3(2322), NPC2(10577), ENG(2022), UQCRQ(27089), GPX1(2876), AASS(10157), PMM2(5373), NEU1(4758), FMO3(2328), SPTB(6710), SPTA1(6708), CD8A(925), GPI(2821), VPS13A(23230), PKLR(5313), AKR1D1(6718), CD247(919), CD3E(916), SP110(3431), VKORC1(79001), PLAT(5327), PNPO(55163), LCAT(3931), LBR(3930), RAB27A(5873), AMLCR2(9163), ADAMTS13(11093), ELANE(1991), PLEC(5339), MGAT2(4247), TNFSF11(8600), EGLN1(54583), ATM(472), CSF2RA(1438), LMBRD1(55788), MPI(4351), PTPN11(5781), SERPINC1(462), NME1(4830), GSS(2937), GSR(2936), MOS(4342), MLLT3(4300), MMAB(326625), STAT3(6774), MLL(4297), KRT1(3848), STAT1(6772), MLLT1(4298), DCLRE1C(64421), AFF1(4299), MLH1(4292), RFXANK(8625), MCFD2(90411), MMACHC(25974), SUMF1(285362), AICDA(57379), MLF1(4291), CSF3R(1441), FCGR2C(9103), KRT16(3868), KLHDC8B(200942), RPS14(6208), HPS4(89781), PNP(4860), RPS19(6223), MASTL(84930), SLC35A1(10559), TPMT(7172), KRT9(3857)]
HEMATOLOGICAL NEOPLASIA(HP:0004377)	[RET(5979), LYL1(4066), TINF2(26277), SH2D1A(4068), NSD1(64324), DPM1(8813), DCR(1637), GLI3(2737), ESCO2(157570), NPM1(4869), KIT(3815), THPO(7066), ABL1(25), FANCD2(2177), FANCC(2176), FANCE(2178), GNPTAB(79158), MSH6(2956), KIF1B(23095), SEC23A(10484), PICALM(8301), PTEN(5728), MPL(4352), CREBBP(1387), PTH1R(5745), KDR(3791), ARHGEF12(23365), RARA(5914), BCR(613), SDHD(6392), SDHB(6390), NBN(4683), PDGFRB(5159), CDKN2A(1029), SLC26A2(1836), CEBPA(1050), SOS1(6654), SBDS(51119), POLA1(5422), GPC6(10082), LPP(4026), FES(2242), MSH2(4436), SLC37A4(2542), PMS2(5395), RUNX1(861), MCL1(4170), JAK2(3717), CCND1(595), OFD1(8481), BCL2(596), TCL1A(8115), RB1(5925), BCL3(602), TP53(7157), TAL1(6886), EP300(2033), GATA1(2623), BRAF(673), MAP2K1(5604), FLT3(2322), MAP2K2(5605), BUB1B(701), MLLT10(8028), SH3GL1(6455), FLT4(2324), NUP214(8021), TLX1(3195), DKC1(1736), BLM(641), TRA@(6955), AMLCR2(9163), ELANE(1991), RECQL4(9401), WHSC1L1(54904), MGAT2(4247), CD96(10225), PBX1(5087), ATM(472), MYB(4602), TNFRSF13B(23495), PTPN11(5781), RMRP(6023), SLC17A3(10786), MOS(4342), ETV6(2120), MLL(4297), TERC(7012), TERT(7015), FANCA(2175), MLH1(4292), KRAS(3845), TFAP2A(7020), GMPS(8833), MLF1(4291), VHL(7428), GBA(2629), PNP(4860)]
HEMATURIA(HP:0000790)	[LMNB2(84823), TBXAS1(6916), SLC37A4(2542), LYZ(4069), HBB(3043), MMACHC(25974), LMX1B(4010), COL4A6(1288), CLDN16(10686), SLC17A3(10786), MYH9(4627), APOA1(335), CFH(3075), COL4A4(1286), FGA(2243), COL4A3(1285)]
HEMIANOPIC BLURRING OF VISION(HP:0001125)	[ATP1A2(477), CACNA1A(773)]
HEMIHYPERTROPHY(HP:0001528)	[KCNQ1OT1(10984), NSD1(64324), PTEN(5728), CDKN1C(1028), H19(283120)]
HEMIPARESIS(HP:0001269)	[PRNP(5621), ATP1A2(477), CACNA1A(773), SLC2A1(6513), TREX1(11277), SCN1A(6323), CFH(3075), TUBB2B(347733)]
HEMIPLEGIA(HP:0002301)	[CACNA1A(773), ATP1A2(477), DOCK8(81704), SCN1A(6323), COL4A1(1282)]
HEMIPLEGIA/HEMIPARESIS(HP:0004374)	[PRNP(5621), CACNA1A(773), ATP1A2(477), SLC2A1(6513), DOCK8(81704), TREX1(11277), SCN1A(6323), COL4A1(1282), CFH(3075), TUBB2B(347733)]
HEMISACRUM (S2-S5)(HP:0009790)	[MNX1(3110)]
HEMIVERTEBRAE(HP:0002937)	[ATRX(546), FGFR1(2260), B3GALTL(145173), ROR2(4920), SEMA3E(9723), GLI3(2737), EBP(10682), DLL3(10683), IKBKG(8517), SOX2(6657), PTCH1(5727), POR(5447), JAG1(182), GDF6(392255), CHD7(55636)]
HEMOGLOBINURIA(HP:0003641)	[NT5C3(51251), PIGA(5277)]
HEMOLYTIC ANEMIA(HP:0001878)	[GP1BA(2811), PGK1(5230), CD40LG(959), HK1(3098), CPOX(1371), EPB42(2038), AK1(203), STOM(2040), HBA2(3040), HBB(3043), NBN(4683), ANK1(286), FOXP3(50943), RMRP(6023), GALT(2592), GCLC(2729), GSS(2937), GSR(2936), GPX1(2876), CFH(3075), SLC4A1(6521), ALAD(210), FECH(2235), SPTA1(6708), ADA(100), GPI(2821), ABCG8(64241), PKLR(5313), ABCG5(64240), G6PD(2539), CD247(919), UROS(7390), NT5C3(51251), RHAG(6005), ALDOA(226), LCAT(3931), BPGM(669), PFKM(5213), WAS(7454), ADAMTS13(11093), HBA1(3039), TPI1(7167), PNP(4860), FAS(355), CASP10(843), ATP7B(540)]
HEMOLYTIC ANEMIA WITH ELLIPTOCYTOSIS(HP:0004837)	[SPTB(6710)]
HEMOLYTIC ANEMIA, CHRONIC(HP:0004815)	[PKLR(5313)]
HEMOLYTIC-UREMIC SYNDROME(HP:0005575)	[CFH(3075), MMACHC(25974)]
HEMOPTYSIS(HP:0002105)	[COL3A1(1281)]
HEPARAN SULFATE EXCRETION IN URINE(HP:0002159)	[SGSH(6448), HGSNAT(138050), GNS(2799), NAGLU(4669)]
HEPATIC ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0001400)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
HEPATIC ARTERIOVENOUS MALFORMATION(HP:0006574)	[ENG(2022), ACVRL1(94)]
HEPATIC CYSTS(HP:0001407)	[PKHD1(5314), NPHP3(27031), PKD2(5311), PKD1(5310)]
HEPATIC ENCEPHALOPATHY(HP:0002480)	[SH2D1A(4068)]
HEPATIC FAILURE(HP:0001399)	[SH2D1A(4068), ACAD9(28976), POLG(5428), NHLRC1(378884), NDUFAF2(91942), MPI(4351), FAH(2184), DGUOK(1716), NDUFA1(4694), NPC1(4864), EPM2A(7957), FECH(2235), NDUFAF3(25915), PCK1(5105), AKR1D1(6718), NDUFA11(126328), NDUFAF4(29078), PCK2(5106), NDUFS1(4719), C10orf2(56652), NDUFV1(4723), NDUFS2(4720), HADH(3033), NDUFS6(4726), C20orf7(79133), GFM1(85476), GBA(2629), MPV17(4358), NDUFS4(4724), GBE1(2632), ATP7B(540)]
HEPATIC FIBROSIS(HP:0001395)	[MKKS(8195), INSR(3643), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), ARL6(84100), BBS4(585), INPP5E(56623), ASL(435), CEP290(80184), BBS12(166379), MPI(4351), BBS10(79738), MKS1(54903), LIPA(3988), TMEM67(91147), BBS7(55212), AGL(178), PMM2(5373), NPHP3(27031), BBS9(27241), TTC8(123016)]
HEPATIC NECROSIS(HP:0002605)	[DGUOK(1716), HADH(3033), GFM1(85476), MPV17(4358), ACADVL(37), ETFDH(2110), ETFB(2109), ETFA(2108), C10orf2(56652)]
HEPATIC PERIPORTAL NECROSIS(HP:0002614)	[GFM1(85476), ETFDH(2110), ETFB(2109), ETFA(2108)]
HEPATIC STEATOSIS(HP:0001397)	[LMNA(4000), ACAD9(28976), BCS1L(617), HSD17B4(3295), POLG(5428), DNAJC19(131118), MCCC1(56922), SLC22A5(6584), DGUOK(1716), UQCRQ(27089), PMM2(5373), CBS(875), UQCRB(7381), ACADM(34), BSCL2(26580), ABHD5(51099), PPARG(5468), ACADL(33), ACADVL(37), PCK1(5105), PCK2(5106), ETFDH(2110), ETFB(2109), C10orf2(56652), ETFA(2108), PPP1R3A(5506), ACOX1(51), HADH(3033), MPV17(4358), ALMS1(7840), AGPAT2(10555), CPT2(1376)]
HEPATIC STEATOSIS, DIFFUSE(HP:0006555)	[ACOX1(51)]
HEPATIC VASCULAR MALFORMATIONS(HP:0006576)	[KRIT1(889)]
HEPATOBLASTOMA(HP:0002884)	[KCNQ1OT1(10984), APC(324), SLC37A4(2542), SLC17A3(10786), NSD1(64324), CDKN1C(1028), H19(283120)]
HEPATOCELLULAR CARCINOMA(HP:0001402)	[MET(4233), SLC37A4(2542), AFP(174), G6PC(2538), PIK3CA(5290), CTNNB1(1499), H19(283120), PDGFRL(5157), SERPINA1(5265), FAH(2184), SLC17A3(10786), CASP8(841), TP53(7157), JAG1(182), AXIN1(8312), HFE(3077)]
HEPATOCELLULAR NECROSIS(HP:0001404)	[DGUOK(1716), GFM1(85476), MPV17(4358), ACADVL(37), C10orf2(56652)]
HEPATOMEGALY(HP:0002240)	[CPT1A(1374), FBP1(2203), GUSB(2990), CPOX(1371), LYZ(4069), MMAA(166785), SH2D1A(4068), CLDN1(9076), NSD1(64324), HSD17B4(3295), H19(283120), DPM1(8813), SLC22A5(6584), KCNQ1OT1(10984), FAH(2184), SLC7A7(9056), GNMT(27232), GUCY2D(3000), NPC1(4864), CTSA(5476), GNE(10020), GNPTAB(79158), GLB1(2720), SC5DL(6309), ACADM(34), SLC25A20(788), GPC3(2719), ACADL(33), LYST(1130), PEX10(5192), PEX14(5195), PEX13(5194), ACADVL(37), PEX1(5189), IL2RG(3561), C10orf2(56652), ACOX1(51), AP3B1(8546), MPV17(4358), SLC17A5(26503), ATP7B(540), ATP8B1(5205), NAGLU(4669), CPT2(1376), MAN2B1(4125), LMNA(4000), CDKN1C(1028), AMACR(23600), APOC2(344), PDGFRA(5156), NCF2(4688), PSAP(5660), LPL(4023), MEFV(4210), GNS(2799), SBDS(51119), RAG2(5897), RAG1(5896), APOA1(335), FUCA1(2517), PEX26(55670), FGA(2243), BSCL2(26580), ABHD5(51099), ADA(100), SLC37A4(2542), COX6B1(1340), SLC39A4(55630), G6PC(2538), PEX3(8504), CYBB(1536), LIPA(3988), FASTKD2(22868), ALMS1(7840), MOGS(7841), FAS(355), GAA(2548), CASP10(843), CASR(846), SMPD1(6609), SLC25A15(10166), PEX19(5824), ABCD3(5825), ARSB(411), BTD(686), CD40LG(959), PEX2(5828), PEX5(5830), ERCC6(2074), PYGL(5836), HMGCL(3155), CTNS(1497), IDS(3423), SGSH(6448), NPC2(10577), GALT(2592), TREX1(11277), PMM2(5373), ABCB11(8647), NEU1(4758), TCIRG1(10312), GALE(2582), AGA(175), PKHD1(5314), AKR1D1(6718), GALNS(2588), ASL(435), CYBA(1535), ETFDH(2110), ETFB(2109), ETFA(2108), LBR(3930), ASAH1(427), AGL(178), TNFSF11(8600), CD96(10225), ERCC8(1161), MVK(4598), MUT(4594), MPI(4351), DGUOK(1716), CA2(760), TRIM37(4591), NCF1(653361), SLC17A3(10786), HEXB(3074), NPHP3(27031), HFE(3077), ADAMTSL2(9719), HGSNAT(138050), MMAB(326625), ALG1(56052), DCLRE1C(64421), PHKA2(5256), PHKB(5257), ALDOB(229), EIF2AK3(9451), CSF3R(1441), PCCB(5096), GBA(2629), AGPAT2(10555), GBE1(2632), PC(5091), PCCA(5095), GCDH(2639)]
HEPATOSPLENOMEGALY(HP:0001433)	[TNFSF11(8600), ABCD3(5825), PEX2(5828), MVK(4598), CSF3R(1441), PSAP(5660), LBR(3930), CA2(760), LIPA(3988), LPL(4023), TREX1(11277), GBE1(2632), CTSA(5476), HEXB(3074), SC5DL(6309)]
HEREDITARY CHILDHOOD CORNEAL CLOUDING(HP:0007966)	[PAX6(5080)]
HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716)	[EP300(2033), AKT1(207), APC(324), BUB1B(701), PTPRJ(5795), FLCN(201163), PIK3CA(5290), MLH3(27030), NRAS(4893), AXIN2(8313), TP53(7157), PDGFRL(5157)]
HEREDITARY PYROPOIKILOCYTOSIS(HP:0004805)	[SPTA1(6708)]
HERNIA OF THE ABDOMINAL WALL(HP:0004299)	[FBN1(2200), PLOD1(5351), ARSB(411), GUSB(2990), ATRX(546), EFEMP2(30008), RPS6KA3(6197), MYH3(4621), CCBE1(147372), NSD1(64324), GLRB(2743), TBX3(6926), GLRA1(2741), STRA6(64220), PLOD2(5352), GLI3(2737), IDS(3423), GNE(10020), NEU1(4758), GNPTAB(79158), AMH(268), GLB1(2720), AMHR2(269), SALL1(6299), GPC3(2719), ELN(2006), LRP2(4036), TSHB(7252), GALNS(2588), SLC5A5(6528), B3GALTL(145173), ROR2(4920), LBR(3930), CHRNG(1146), MBTPS2(51360), COL1A2(1278), SLC6A5(9152), RAB23(51715), COL1A1(1277), MAN2B1(4125), ADAMTS2(9509), HSPG2(3339), FGFR1(2260), LOX(4015), COL5A2(1290), MED12(9968), SLC26A2(1836), GPHN(10243), COL5A1(1289), DGCR(1714), FBLN5(10516), GPC6(10082), FGD1(2245), COL2A1(1280), COL3A1(1281), CBS(875), BSCL2(26580), UBA1(7317), TBX1(6899), PORCN(64840), SEMA3E(9723), NIPBL(25836), EFNB1(1947), OFD1(8481), ATP6V0A2(23545), AGPAT2(10555), AR(367), CHD7(55636), LEPRE1(64175), PAX8(7849)]
HETEROCHROMIA IRIDIS(HP:0001100)	[SOX10(6663), MITF(4286), SNAI2(6591), PAX3(5077), EDNRB(1910)]
HETEROGENEOUS(HP:0001425)	[SH3TC2(79628), CENPJ(55835), GLUD1(2746), TINF2(26277), TGFBR1(7046), TGFB3(7043), MCCC1(56922), GLI3(2737), BRIP1(83990), NPHP1(4867), NPC1(4864), RPGRIP1L(23322), SBF2(81846), HSPB1(3315), KIF5A(3798), MCPH1(79648), MPZ(4359), SLC12A1(6557), KCNQ2(3785), KCNQ1(3784), KCNQ3(3786), TNFRSF11A(8792), DBH(1621), AXIN1(8312), CHRNA4(1137), NPHP4(261734), NDUFS7(374291), KCNJ11(3767), FGFR1(2260), GDF5(8200), BCS1L(617), FGF14(2259), MED25(81857), HSPB8(26353), KCNJ1(3758), KCNH2(3757), ACVRL1(94), ASPM(259266), GPR98(84059), DTNBP1(84062), GDF6(392255), KCNE1(3753), C8orf38(137682), JUP(3728), CCM2(83605), CYP1B1(1545), HPS1(3257), CFTR(1080), FASTKD2(22868), RB1CC1(9821), CTSC(1075), PMP22(5376), TP53(7157), ZIC4(84107), SGCB(6443), ERCC6(2074), ITGB4(3691), BLOC1S3(388552), SLC22A18(5002), TMEM67(91147), ZIC1(7545), TREX1(11277), DNM2(1785), MTMR2(8898), IRF6(3664), FGD4(121512), DLD(1738), PRX(57716), MKS1(54903), MSX2(4488), PRKAR1A(5573), RAD54L(8438), MRPS16(51021), HPS6(79803), AKT1(207), SQSTM1(8878), INSR(3643), FZD4(8322), ZMPSTE24(10269), EYA1(2138), AHI1(54806), GDAP1(54332), GFAP(2670), CLCN7(1186), MFN2(9927), GCK(2645), TERC(7012), TERT(7015), CLCNKB(1188), ALDOB(229), SCN5A(6331), MYOT(9499), SCN9A(6335), SCN1A(6323), HPS5(11234), MAPT(4137), ANK2(287), EDNRB(1910), PDE11A(50940), COX15(1355), MATN3(4148), PTCH1(5727), FOXP2(93986), IHH(3549), MYO7A(4647), NIPA1(123606), KIF1B(23095), LRP5(4041), NUP62(23636), SURF1(6834), ABCC8(6833), C10orf2(56652), VSX1(30813), SLC25A4(291), CACNA1A(773), AP3B1(8546), KCNE2(9992), LITAF(9516), ATP8B1(5205), TCAP(8557), CACNA1F(778), UCHL1(7345), COMP(1311), LMNA(4000), COL17A1(1308), APP(351), COL9A3(1299), KRIT1(889), COL9A2(1298), SDHA(6389), TSFM(10102), PDGFRL(5157), SLC26A2(1836), SPG20(23111), PSEN1(5663), DSP(1832), BSND(7809), NDUFA2(4695), NLGN4X(57502), DSG2(1829), COL4A4(1286), HCRT(3060), COL4A3(1285), ALX4(60529), BSCL2(26580), COX6B1(1340), HPS3(84343), TBP(6908), CAV3(859), NDUFS3(4722), NDUFV1(4723), HADH(3033), AQP2(359), DHH(50846), NDUFS4(4724), NDUFS8(4728), CASP8(841), PPM1D(8493), NEFL(4747), SPG7(6687), CTNNB1(1499), MID1(4281), NPC2(10577), ENG(2022), NSDHL(50814), ABCB11(8647), POMT1(10585), LAMB3(3914), MET(4233), PKP2(5318), LAMC2(3918), ELN(2006), IQCB1(9657), LAMA3(3909), ENAM(10117), GFM1(85476), CRELD1(78987), ATP1A2(477), PIK3CA(5290), KRT17(3872), PTPN11(5781), EGR2(1959), FBLN5(10516), PKD1(5310), MLPH(79083), PITX2(5308), KRT6B(3854), KRT6A(3853), KRAS(3845), KRT16(3868), HPS4(89781), AGPAT2(10555), TPM2(7169), TPM3(7170)]
HETEROTOPIA(HP:0002282)	[PEX19(5824), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), MCPH1(79648), FLNA(2316), MED12(9968), OFD1(8481), DHCR7(1717), PEX26(55670), FMR1(2332)]
HETEROTOPIAS/ABNORMAL MIGRATION(HP:0007317)	[PEX19(5824), LARGE(9215), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), MCPH1(79648), FLNA(2316), MED12(9968), OFD1(8481), DHCR7(1717), CPT2(1376), PEX26(55670), FMR1(2332)]
HIATUS HERNIA(HP:0002036)	[PORCN(64840), NIPBL(25836), ATP7A(538)]
HIGH FLASH VISUAL EVOKED POTENTIALS(HP:0008045)	[FKRP(79147), POMGNT1(55624)]
HIGH FOREHEAD(HP:0000348)	[PEX19(5824), ABCD3(5825), WHCR(7467), PEX2(5828), WHSC1(7468), TWIST1(7291), PEX5(5830), FGFR2(2263), HSD17B4(3295), GLI3(2737), BUB1B(701), SOX9(6662), IGBP1(3476), MAPK10(5602), PEX26(55670), BMP4(652), PEX10(5192), PEX14(5195), PEX13(5194), TP63(8626), PEX1(5189), PEX3(8504), MMACHC(25974), ETFDH(2110), ETFB(2109), ETFA(2108), LBR(3930), GNPAT(8443), CPT2(1376), ATP7A(538), ACTB(60)]
HIGH NASAL BRIDGE(HP:0000442)	[MED12(9968), UPF3B(65109), BCOR(54880), ATIC(471)]
HIGH PALATE(HP:0000218)	[MYCN(4613), FBN1(2200), RET(5979), FBN2(2201), TBX4(9496), ATRX(546), BBS5(129880), ATR(545), MYH3(4621), NSD1(64324), HSD17B4(3295), DPM1(8813), GLI3(2737), HRAS(3265), CRLF1(9244), GNE(10020), BBS9(27241), SC5DL(6309), CHRNA1(1134), SEPN1(57190), TMEM216(51259), SLC2A10(81031), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PTEN(5728), DDR2(4921), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRNE(1145), SLC17A5(26503), CREBBP(1387), CHRND(1144), ACTA1(58), PUS1(80324), SLC12A6(9990), RAB23(51715), CHRNB1(1140), DBH(1621), CPT2(1376), ATP7A(538), MKKS(8195), FH(2271), UPF3B(65109), LMNA(4000), RAPSN(5913), FGFR1(2260), FGFR3(2261), MECP2(4204), FGFR2(2263), BBS12(166379), COL6A1(1291), COL6A2(1292), IGBP1(3476), COL6A3(1293), KCNJ2(3759), CBS(875), PQBP1(10084), TTC8(123016), PEX26(55670), NEB(4703), VPS13B(157680), ABCC6(368), BBS1(582), KAL1(3730), BBS2(583), TNNI2(7136), TBX1(6899), BBS4(585), PEX3(8504), TNNT3(7140), NIPBL(25836), RUNX2(860), BBS10(79738), OFD1(8481), BBS7(55212), DOK7(285489), MOGS(7841), SMS(6611), PEX19(5824), EP300(2033), TRIM32(22954), PEX5(5830), RPS6KA3(6197), ARL6(84100), BRAF(673), FLNA(2316), MTM1(4534), MAP2K1(5604), MAP2K2(5605), MID1(4281), BMP4(652), FOXL2(668), MKS1(54903), GNPAT(8443), RECQL4(9401), PDHX(8050), RYR1(6261), CD96(10225), INSR(3643), CEP290(80184), MUSK(4593), LMBRD1(55788), EYA1(2138), MED12(9968), PTPN11(5781), DGCR(1714), PAK3(5063), ALG3(10195), STAT3(6774), CLCF1(23529), KRAS(3845), EIF2AK3(9451), SHOX(6473), TPM2(7169)]
HIGH PITCHED VOICE(HP:0001620)	[MED12(9968), SMARCAL1(50485), HSPG2(3339), ADAMTSL2(9719), SEPN1(57190), TRIM37(4591), PCNT(5116), BLM(641), GHR(2690)]
HIGH PLASMA GLUTAMINE(HP:0003217)	[ASS1(445), ASL(435), OTC(5009)]
HIGH, BROAD FOREHEAD(HP:0000354)	[FGFR2(2263)]
HIGH, NARROW FOREHEAD(HP:0004674)	[GNPTAB(79158), GJB2(2706)]
HIGH, NARROW ILIAC WINGS(HP:0008808)	[SEC23A(10484)]
HIGH, NARROW PALATE(HP:0002705)	[VPS13B(157680), SMS(6611), DPM1(8813)]
HIGH, SLOPING FOREHEAD(HP:0000342)	[CPT2(1376)]
HIGH-ARCHED PALATE(HP:0000156)	[MYCN(4613), FBN1(2200), RET(5979), FBN2(2201), TBX4(9496), ATRX(546), BBS5(129880), ATR(545), MYH3(4621), NSD1(64324), HSD17B4(3295), GLI3(2737), HRAS(3265), CRLF1(9244), GNE(10020), BBS9(27241), SC5DL(6309), CHRNA1(1134), SEPN1(57190), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PTEN(5728), DDR2(4921), GJA1(2697), CHRNG(1146), CHRNE(1145), SLC17A5(26503), CHRND(1144), CREBBP(1387), ACTA1(58), PUS1(80324), SLC12A6(9990), CHRNB1(1140), RAB23(51715), CPT2(1376), DBH(1621), ATP7A(538), MKKS(8195), FH(2271), UPF3B(65109), LMNA(4000), RAPSN(5913), FGFR1(2260), FGFR3(2261), MECP2(4204), FGFR2(2263), BBS12(166379), COL6A1(1291), IGBP1(3476), COL6A2(1292), COL6A3(1293), KCNJ2(3759), CBS(875), TTC8(123016), PEX26(55670), PQBP1(10084), NEB(4703), ABCC6(368), BBS1(582), KAL1(3730), BBS2(583), TNNI2(7136), TBX1(6899), BBS4(585), PEX3(8504), TNNT3(7140), NIPBL(25836), RUNX2(860), BBS10(79738), OFD1(8481), BBS7(55212), DOK7(285489), MOGS(7841), PEX19(5824), EP300(2033), TRIM32(22954), PEX5(5830), ARL6(84100), BRAF(673), MTM1(4534), MAP2K1(5604), MAP2K2(5605), MID1(4281), BMP4(652), FOXL2(668), MKS1(54903), GNPAT(8443), RECQL4(9401), RYR1(6261), CD96(10225), INSR(3643), CEP290(80184), MUSK(4593), LMBRD1(55788), EYA1(2138), MED12(9968), PTPN11(5781), DGCR(1714), ALG3(10195), STAT3(6774), CLCF1(23529), KRAS(3845), EIF2AK3(9451), SHOX(6473), TPM2(7169)]
HIGH-ARCHED, DENSE EYEBROWS(HP:0007681)	[KIAA1279(26128)]
HIGH-FREQUENCY HEARING LOSS(HP:0005101)	[DSPP(1834), MYH9(4627)]
HIGH-OUTPUT CONGESTIVE HEART FAILURE(HP:0001722)	[ENG(2022)]
HIGH-TONE SENSORINEURAL DEAFNESS(HP:0001757)	[COL4A6(1288), MYH9(4627)]
HIGHER INCIDENCE OF MULTIPLE ACCESSORY PATHWAYS(HP:0006684)	[PRKAG2(51422)]
HIGHLY ARCHED EYEBROWS(HP:0001584)	[EP300(2033), WHCR(7467), WHSC1(7468), AHI1(54806), CREBBP(1387), RPS6KA3(6197), INPP5E(56623), KIAA1279(26128)]
HIGHLY VARIABLE PHENOTYPE(HP:0003815)	[SH3TC2(79628), PGK1(5230), SCN4A(6329), AUH(549), DCX(1641), TRIM32(22954), SALL4(57167), MAPT(4137), PLP1(5354), NDUFAF2(91942), MCCC1(56922), SLC7A7(9056), NPC2(10577), HNF1B(6928), COQ2(27235), NPC1(4864), UQCRQ(27089), UQCRB(7381), ACADS(35), NDUFAF3(25915), TSC1(7248), TSC2(7249), C10orf2(56652), C20orf7(79133), ALDH5A1(7915), FH(2271), PDHA1(5160), SDHA(6389), BCS1L(617), MECP2(4204), POLG(5428), FGF23(8074), PDSS2(57107), PSEN1(5663), NDUFA1(4694), NME1(4830), PDSS1(23590), CLCN1(1180), COQ9(57017), PHEX(5251), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), NIPBL(25836), NDUFV1(4723), NDUFS2(4720), HADH(3033), NDUFS6(4726), GBA(2629), NDUFS4(4724), APTX(54840), SDHAF1(644096), CABC1(56997)]
HIGHLY VARIABLE PHENOTYPE AND AGE OF ONSET(HP:0003664)	[NPC2(10577), NPC1(4864)]
HIGHLY VARIABLE PHENOTYPE AND SEVERITY(HP:0003821)	[TRIM32(22954), CLCN1(1180)]
HIGHLY VARIABLE PHENOTYPE, EVEN WITHIN FAMILIES(HP:0003822)	[SH3TC2(79628)]
HIGHLY VARIABLE SEVERITY(HP:0003825)	[ATL1(51062), SPAST(6683)]
HIP CONTRACTURES(HP:0003273)	[SLC26A2(1836), HSPG2(3339), ESCO2(157570), FBN2(2201), MMP2(4313), TPM2(7169), MYH3(4621), COL2A1(1280), PTH1R(5745)]
HIP DYSPLASIA(HP:0001385)	[SLC26A2(1836), ARSB(411), AP3B1(8546)]
HIP GIRDLE MUSCLE WEAKNESS(HP:0008999)	[MYOT(9499), LMNA(4000), ANO5(203859)]
HIP GIRDLE MUSCLE WEAKNESS (USUALLY PRESENTING SYMPTOM)(HP:0003692)	[LMNA(4000)]
HIP OSTEOARTHRITIS(HP:0008843)	[TRAPPC2(6399), CLCN7(1186), COMP(1311), COL9A3(1299), COL2A1(1280)]
HIRSUTISM(HP:0001007)	[HSPG2(3339), EP300(2033), MKKS(8195), CD96(10225), GUSB(2990), LMNA(4000), BBS5(129880), TRIM32(22954), ARL6(84100), CCBE1(147372), ERCC6(2074), CEP290(80184), BBS12(166379), FLNA(2316), GLI3(2737), SGSH(6448), GNS(2799), GNE(10020), BBS9(27241), TTC8(123016), BSCL2(26580), PPARG(5468), HGSNAT(138050), BBS1(582), BBS2(583), AIP(9049), BBS4(585), NIPBL(25836), PPP1R3A(5506), BBS10(79738), MKS1(54903), PRKAR1A(5573), MMP2(4313), BBS7(55212), CREBBP(1387), AGPAT2(10555), FST(10468), WNT4(54361), NAGLU(4669), ADAMTS2(9509)]
HISTIDINURIA(HP:0002927)	[AASS(10157)]
HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478)	[EFEMP2(30008), COL17A1(1308), LOX(4015), VDR(7421), LOR(4014), ITGB4(3691), ATP2C1(27032), DSP(1832), FBLN5(10516), TREX1(11277), SAMD9(54809), LAMB3(3914), ABHD5(51099), ST14(6768), KRT5(3852), ELN(2006), LAMC2(3918), SLC39A4(55630), KRT1(3848), LAMA3(3909), GBA(2629), ATP2A2(488), KITLG(4254), TGM5(9333), WNT10A(80326), POMP(51371), KRT10(3858), NOTCH3(4854), PLEC(5339), MANBA(4126), ADAMTS2(9509)]
HITCHHIKER THUMB(HP:0001234)	[SLC26A2(1836), FLNB(2317)]
HOARSE CRY(HP:0001615)	[ASAH1(427), TSHB(7252), PAX8(7849), LAMA3(3909)]
HOARSE VOICE(HP:0001609)	[KRT6B(3854), AGA(175), SLC19A2(10560), SMCR(6600), SDHD(6392), SDHC(6391), TSHB(7252), KRT17(3872), FLNA(2316), LIFR(3977), LAMA3(3909), SDHAF2(54949), TRPV4(59341), IDS(3423), ASAH1(427), HRAS(3265), LEMD3(23592), RAI1(10743), GDAP1(54332), GNPTAB(79158), PAX8(7849)]
HOARSE VOICE (CAUSED BY TUMOR IMPINGEMENT)(HP:0001613)	[SDHD(6392), SDHC(6391), SDHAF2(54949)]
HOARSE VOICE DUE TO VOCAL CORD PARESIS(HP:0001616)	[TRPV4(59341), GDAP1(54332)]
HOLOPROSENCEPHALY(HP:0001360)	[SHH(6469), DHCR7(1717), TGIF1(7050), SIX3(6496)]
HOMOCYSTINEMIA(HP:0002160)	[MMADHC(27249), MTHFR(4524), LMBRD1(55788), MMACHC(25974)]
HOMOCYSTINURIA(HP:0002156)	[MMADHC(27249), MTHFR(4524), MTRR(4552), CBS(875), LMBRD1(55788), MMACHC(25974)]
HONEYCOMB PALMOPLANTAR KERATODERMA(HP:0007465)	[POMP(51371)]
HONEYCOMB RETINAL DEGENERATION(HP:0007937)	[EFEMP1(2202)]
HOOKED CLAVICLES(HP:0000895)	[FBN1(2200), SLC35D1(23169)]
HORIZONTAL ACETABULAR ROOF(HP:0003171)	[COL2A1(1280), GNPTAB(79158)]
HORIZONTAL PENDULAR NYSTAGMUS(HP:0007811)	[CNGB3(54714), LRP5(4041)]
HORIZONTAL SACRUM(HP:0003440)	[SLC26A2(1836), LBR(3930), FLNB(2317)]
HORNER SYNDROME(HP:0002277)	[NME1(4830)]
HORSESHOE KIDNEY(HP:0000085)	[SALL4(57167), FANCA(2175), CCBE1(147372), DKC1(1736), PORCN(64840), STRA6(64220), SEMA3E(9723), ESCO2(157570), POR(5447), FANCD2(2177), FANCC(2176), FANCE(2178), MNX1(3110), CHD7(55636), SC5DL(6309)]
HUMAN PRE-B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA(HP:0004812)	[PBX1(5087)]
HUMERAL HYPOPLASIA(HP:0005792)	[SALL4(57167), TBX3(6926), GDF5(8200), LMBR1(64327), FLNA(2316), FLNB(2317), NOG(9241), GNPAT(8443), GPC6(10082), RECQL4(9401), CHST3(9469), IHH(3549), ATP7A(538)]
HUMERAL RADIAL SYNOSTOSIS(HP:0003936)	[NOG(9241), WNT7A(7476)]
HUMP-SHAPED MOUND OF BONE IN CENTRAL AND POSTERIOR PORTIONS OF VERTEBRAL ENDPLATE(HP:0004594)	[TRAPPC2(6399)]
HURTHLE CELL THYROID ADENOMA(HP:0006781)	[CDC73(79577)]
HUSKY VOICE(HP:0001619)	[TRH(7200)]
HYDRANENCEPHALY(HP:0002324)	[FLVCR2(55640), TBX15(6913)]
HYDROCELE(HP:0000034)	[FLT4(2324), SOX18(54345), NSD1(64324), PTEN(5728)]
HYDROCEPHALUS(HP:0000238)	[FBN1(2200), ARSB(411), FKRP(79147), GUSB(2990), LARGE(9215), TBX15(6913), ZIC4(84107), TGFBR1(7046), ERCC6(2074), BRAF(673), FLNA(2316), MTM1(4534), GLI3(2737), MAP2K1(5604), IDS(3423), MAP2K2(5605), ESCO2(157570), SOX9(6662), BUB1B(701), ZIC1(7545), NF1(4763), PTCH1(5727), POMT1(10585), TCIRG1(10312), GALC(2581), GPC3(2719), TMEM216(51259), B3GALTL(145173), PTEN(5728), FKTN(2218), MKS1(54903), SLC17A5(26503), VANGL1(81839), RECQL4(9401), POMT2(29954), WHCR(7467), WHSC1(7468), HCCS(3052), DNAI1(27019), RAPSN(5913), ERCC8(1161), FGFR1(2260), FGFR3(2261), FGFR2(2263), MED12(9968), L1CAM(3897), OSTM1(28962), WNT3(7473), FREM2(341640), GFAP(2670), FRAS1(80144), POMGNT1(55624), PORCN(64840), KRAS(3845), HYLS1(219844), SUMF1(285362), MMACHC(25974), NDUFV1(4723), FLVCR2(55640), OFD1(8481), FAM123B(139285), DOK7(285489), GBA(2629)]
HYDRONEPHROSIS(HP:0000126)	[PEX19(5824), ERBB3(2065), MKKS(8195), WFS1(7466), ATRX(546), PEX5(5830), TBX15(6913), SALL4(57167), CCBE1(147372), NBN(4683), STRA6(64220), FGFR2(2263), BRAF(673), FLNA(2316), MAP2K1(5604), MAP2K2(5605), SOX9(6662), DHCR7(1717), DGCR(1714), UBR1(197131), PEX26(55670), SHH(6469), PEX10(5192), XDH(7498), PEX14(5195), PEX13(5194), CRTAP(10491), TP63(8626), TBX1(6899), PEX1(5189), PORCN(64840), KRAS(3845), PEX3(8504), B3GALTL(145173), HYLS1(219844), ROR2(4920), SEMA3E(9723), EBP(10682), HOXD13(3239), RAB23(51715), CPT2(1376), CHD7(55636), ATP7A(538)]
HYDROPS(HP:0000990)	[CHRNA1(1134), TRPS1(7227), SCN9A(6335), TRIP11(9321), NLRP3(114548), MLC1(23209), SH3BP2(6452), GBA(2629), CHRNG(1146), FLT4(2324), CHRND(1144), TREM2(54209), TYROBP(7305), MRPS16(51021), COL1A1(1277), ACVR1(90)]
HYDROPS FETALIS(HP:0001789)	[RYR1(6261), GUSB(2990), ALG1(56052), TRIP11(9321), PKLR(5313), CLCNKB(1188), SOX18(54345), SLC26A2(1836), LBR(3930), HADHB(3032), GBA(2629), HBA1(3039), BSND(7809), SLC17A5(26503), CDAN1(146059), FLT4(2324), GBE1(2632), COL2A1(1280), PMM2(5373), PTH1R(5745), NEU1(4758), COL1A1(1277), HADHA(3030)]
HYDROURETER(HP:0000072)	[MKKS(8195), WFS1(7466), TP63(8626), RAB23(51715), FLNA(2316)]
HYDROXYPROLINEMIA(HP:0003260)	[TNFRSF11B(4982)]
HYDROXYPROLINURIA(HP:0003080)	[SLC6A20(54716), SQSTM1(8878), TNFRSF11B(4982), TNFRSF11A(8792), PRODH(5625), SLC36A2(153201), SLC6A19(340024), PLOD2(5352), ALDH4A1(8659)]
HYPERACTIVE DEEP TENDON REFLEXES(HP:0006801)	[GALC(2581), GJA1(2697)]
HYPERACTIVE RENIN-ANGIOTENSIN SYSTEM(HP:0000841)	[SLC12A1(6557), CLCNKB(1188), KCNJ1(3758)]
HYPERACTIVITY(HP:0000752)	[AMT(275), CD40(958), CD40LG(959), ATRX(546), ATR(545), CCBE1(147372), ANCR(282), INPP5E(56623), NBN(4683), MECP2(4204), CC2D1A(54862), PRODH(5625), PSAP(5660), SGSH(6448), MED12(9968), CUL4B(8450), DHCR7(1717), THRB(7068), GLDC(2731), CDKL5(6792), GNS(2799), IGF1(3479), FGD1(2245), ACY1(95), UBE3A(7337), FMR1(2332), KRT5(3852), HGSNAT(138050), NTRK1(4914), SMCR(6600), OPHN1(4983), RAB39B(116442), TSHR(7253), ARG1(383), GCSH(2653), AICDA(57379), IGHR(8117), SLC9A6(10479), PANK2(80025), GJA1(2697), RAI1(10743), ALDH5A1(7915), UNG(7374), NAGLU(4669), PRSS12(8492), MANBA(4126)]
HYPERALANINEMIA(HP:0003348)	[PDHA1(5160), PDHX(8050), PC(5091)]
HYPERALDOSTERONISM(HP:0005975)	[BSND(7809), CLCNKB(1188), SLC26A3(1811)]
HYPERAMMONEMIA(HP:0001987)	[SLC25A15(10166), BTD(686), CPS1(1373), SLC25A20(788), MMAB(326625), GLUD1(2746), MMAA(166785), ASS1(445), NAGS(162417), ARG1(383), ASL(435), OTC(5009), HMGCL(3155), MCCC1(56922), MUT(4594), PCCB(5096), SLC22A5(6584), SLC7A7(9056), HLCS(3141), CPT2(1376), PCCA(5095)]
HYPERAMMONEMIA, ACUTE(HP:0008281)	[MCCC1(56922)]
HYPERAMMONEMIA, ASYMPTOMATIC(HP:0008162)	[GLUD1(2746)]
HYPERAPOBETALIPOPROTEINEMIA(HP:0008158)	[ABCG8(64241), ABCG5(64240)]
HYPERBILIRUBINEMIA(HP:0002904)	[SPTB(6710), PLOD1(5351), SPTA1(6708), SLC25A13(10165), AKR1D1(6718), ALDOB(229), RHAG(6005), GALK1(2584), ANK1(286), AMACR(23600), C10orf2(56652), DGUOK(1716), MPV17(4358), SLC17A5(26503), ABCC2(1244), GPX1(2876), ATP8B1(5205), ABCB11(8647), UGT1A1(54658), SLC4A1(6521), SC5DL(6309)]
HYPERCALCEMIA(HP:0003072)	[RET(5979), KIF1B(23095), ALPL(249), SDHD(6392), SDHB(6390), CDC73(79577), MEN1(4221), PTH1R(5745), CASR(846), VHL(7428)]
HYPERCALCIURIA(HP:0002150)	[CLDN19(149461), CLCN5(1184), CFTR(1080), CLDN16(10686), SLC12A1(6557), SLC34A3(142680), ALPL(249), CLCNKB(1188), ATP7B(540), KCNJ1(3758), PTH1R(5745), CASR(846)]
HYPERCHLOREMIC ACIDOSIS(HP:0001995)	[WNK1(65125), SLC4A4(8671), GALT(2592), NEUROG3(50674), WNK4(65266)]
HYPERCHLOREMIC METABOLIC ACIDOSIS(HP:0004918)	[GALT(2592), NEUROG3(50674)]
HYPERCHOLESTEROLEMIA(HP:0003124)	[RET(5979), ABCG8(64241), APOB(338), ABCG5(64240), KIF1B(23095), LDLR(3949), SDHD(6392), APOA2(336), PHKA2(5256), SDHB(6390), OCRL(4952), VHL(7428), LIPA(3988), LPL(4023), APTX(54840), JAG1(182)]
HYPERCONVEX FINGERNAILS(HP:0001812)	[WHCR(7467), WHSC1(7468), RPS6KA3(6197)]
HYPERCONVEX NAILS(HP:0001795)	[WHCR(7467), ARX(170302), WHSC1(7468), RPS6KA3(6197), TP63(8626)]
HYPERCORTISOLISM(HP:0001578)	[PDE11A(50940), PRKAR1A(5573)]
HYPERECHOGENIC PANCREAS(HP:0006276)	[CD96(10225)]
HYPEREXTENSIBILITY AT WRISTS(HP:0005072)	[COL6A1(1291), COL6A2(1292), COL6A3(1293)]
HYPEREXTENSIBILITY OF THE FINGER JOINTS(HP:0001187)	[ALG3(10195), RPS6KA3(6197), KRAS(3845), BRAF(673), MTM1(4534), FLNB(2317), SLC26A2(1836), MAP2K1(5604), COL6A1(1291), MAP2K2(5605), HRAS(3265), MYH7(4625), COL6A2(1292), COL6A3(1293), SMS(6611)]
HYPEREXTENSIBLE SKIN(HP:0000974)	[PEX19(5824), PLOD1(5351), CD96(10225), NPR2(4882), PEX5(5830), EFEMP2(30008), RPS6KA3(6197), NSD1(64324), FGFR3(2261), LOX(4015), FGFR2(2263), FGF10(2255), SLC7A7(9056), COL5A1(1289), HRAS(3265), FBLN5(10516), GSN(2934), COL3A1(1281), PEX26(55670), LAMB1(3912), ELN(2006), SLC2A10(81031), OSMR(9180), TNXB(7148), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), ATP6V0A2(23545), GORAB(92344), COL1A2(1278), ZNF469(84627), COL1A1(1277), ATP7A(538), ADAMTS2(9509)]
HYPERGAMMAGLOBULINEMIA(HP:0004435)	[CD40(958), ADA(100), CD40LG(959), SPINK5(11005), SH2D1A(4068), KRT1(3848), SETX(23064), MVK(4598), KLHDC8B(200942), KRT16(3868), ELANE(1991), WAS(7454), FAS(355), CASP10(843), KRT9(3857)]
HYPERGLOBULINEMIA(HP:0002852)	[CD40(958), ADA(100), CD40LG(959), SPINK5(11005), SH2D1A(4068), KRT1(3848), SETX(23064), MVK(4598), KLHDC8B(200942), KRT16(3868), ELANE(1991), WAS(7454), FAS(355), CASP10(843), KRT9(3857)]
HYPERGLYCEMIA(HP:0003074)	[KCNJ11(3767), PPARG(5468), GCK(2645), LMNA(4000), HNF1A(6927), ZMPSTE24(10269), ABCC8(6833), GLI3(2737), PPP1R3A(5506), INS(3630), ZFP57(346171), GYS2(2998), TNDM(7952)]
HYPERGLYCINEMIA(HP:0002154)	[AMT(275), PCCB(5096), MMAB(326625), GLDC(2731), MMAA(166785), GCSH(2653), PCCA(5095), MUT(4594)]
HYPERGLYCINURIA(HP:0003108)	[AMT(275), PCCB(5096), SLC6A20(54716), GLDC(2731), GCSH(2653), SLC36A2(153201), SLC6A19(340024), PCCA(5095)]
HYPERGONADOTROPIC HYPOGONADISM(HP:0000815)	[LHCGR(3973), COQ9(57017), FANCA(2175), DCAF17(80067), POLG(5428), PDSS2(57107), ALMS1(7840), COQ2(27235), SIL1(64374), FANCD2(2177), PDSS1(23590), FANCC(2176), APTX(54840), PMM2(5373), FANCE(2178), BMPR1B(658), CABC1(56997)]
HYPERHIDROSIS(HP:0000975)	[KRT6B(3854), LAMB3(3914), RET(5979), LMNB1(4001), LAMC2(3918), CLCF1(23529), KIF1B(23095), SLURP1(57152), COL17A1(1308), SDHD(6392), DKC1(1736), SDHB(6390), KRT17(3872), VHL(7428), LAMA3(3909), WNK1(65125), COL6A1(1291), ITGB4(3691), IKBKAP(8518), ATP2A2(488), COL6A2(1292), COL6A3(1293), WNT10A(80326)]
HYPERHIDROSIS OF PALMS AND SOLES(HP:0007624)	[WNT10A(80326)]
HYPERHIDROSIS, EPISODIC(HP:0001069)	[WNK1(65125), IKBKAP(8518)]
HYPERINSULINEMIA(HP:0000842)	[BSCL2(26580), KCNJ11(3767), SNRPN(6638), PPARG(5468), GLUD1(2746), INSR(3643), GCK(2645), LMNA(4000), SLC16A1(6566), ZMPSTE24(10269), ABCC8(6833), PPP1R3A(5506), MPI(4351), HADH(3033), NDN(4692), ALMS1(7840), AGPAT2(10555)]
HYPERINSULINEMIA, FASTING(HP:0008283)	[INSR(3643)]
HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825)	[MPI(4351), KCNJ11(3767), HADH(3033), GCK(2645), INSR(3643), GLUD1(2746), ABCC8(6833), SLC16A1(6566)]
HYPERINTENSE LESIONS IN THE BASAL GANGLIA ON MRI(HP:0007183)	[ETHE1(23474)]
HYPERKALEMIA(HP:0002153)	[WNK1(65125), INVS(27130), SCNN1G(6340), SCNN1A(6337), CYP11B2(1585), SCNN1B(6338), LPIN1(23175), WNK4(65266)]
HYPERKALEMIC METABOLIC ACIDOSIS(HP:0005976)	[INVS(27130)]
HYPERKERATOSIS(HP:0000962)	[SLURP1(57152), BRAF(673), FERMT1(55612), MAP2K1(5604), ITGB4(3691), MAP2K2(5605), FLT4(2324), NSDHL(50814), LAMB3(3914), LAMC2(3918), PTEN(5728), GJB2(2706), LAMA3(3909), GJB3(2707), GJA1(2697), KITLG(4254), NAGA(4668), WNT10A(80326), POMP(51371), PLEC(5339), ADAMTS2(9509), GJB6(10804), KRT81(3887), INSR(3643), COL17A1(1308), LOR(4014), KRT17(3872), ZMPSTE24(10269), AAAS(8086), DSP(1832), DSG1(1828), KRT86(3892), KRT83(3889), KRT6B(3854), KRT5(3852), KRT6A(3853), JUP(3728), KRT1(3848), TP63(8626), KRAS(3845), SNAP29(9342), KRT16(3868), GBA(2629), ATP2A2(488), GJB4(127534), CTSC(1075), KRT14(3861), PVRL1(5818), KRT10(3858), KRT9(3857)]
HYPERKERATOSIS OVER EDEMATOUS AREAS(HP:0007448)	[FLT4(2324)]
HYPERKERATOSIS, GENERALIZED(HP:0005595)	[GJB4(127534), GJB3(2707)]
HYPERKINESIS(HP:0002487)	[IGHR(8117), PSAP(5660), SLC9A6(10479), KRT5(3852), CD40(958), CD40LG(959), THRB(7068), ALDH5A1(7915), UNG(7374), PRSS12(8492), AICDA(57379)]
HYPERKYPHOSIS(HP:0003314)	[LBR(3930)]
HYPERLIPIDEMIA(HP:0003077)	[CPT1A(1374), SLC37A4(2542), LMNA(4000), NPHS2(7827), G6PC(2538), APOE(348), DCAF17(80067), PYGL(5836), ZMPSTE24(10269), LPL(4023), SLC17A3(10786), AGL(178), CFH(3075)]
HYPERLIPOPROTEINEMIA II(HP:0003611)	[APOA5(116519)]
HYPERLORDOSIS(HP:0003307)	[VCP(7415), TRAPPC2(6399), FBN1(2200), HSPG2(3339), ARSB(411), COMP(1311), NPR2(4882), FGFR3(2261), SGCG(6445), COL11A2(1302), LMX1B(4010), MED12(9968), SLC26A2(1836), RMRP(6023), MATN3(4148), ADAMTS10(81794), DYM(54808), COL2A1(1280), FUCA1(2517), IHH(3549), POMT1(10585), GLB1(2720), NEB(4703), SMARCAL1(50485), PLEKHG5(57449), VPS13B(157680), MFN2(9927), CLCF1(23529), GALNS(2588), SHOX(6473), RAB3GAP2(25782), CUL7(9820), HSD17B10(3028)]
HYPERLYSINEMIA(HP:0002161)	[DECR1(1666), AASS(10157)]
HYPERMAGNESEMIA(HP:0002918)	[CASR(846)]
HYPERMETHIONINEMIA(HP:0003235)	[FAH(2184), GNMT(27232), AHCY(191), MAT1A(4143)]
HYPERMETROPIA(HP:0000540)	[SNRPN(6638), PCNT(5116), ERCC8(1161), NSD1(64324), PRPS1(5631), ERCC6(2074), SLC6A8(6535), PRPS2(5634), FOXL2(668), TRPV4(59341), NOG(9241), KDM5C(8242), TYR(7299), NDN(4692), CLDN16(10686), MITF(4286), FGD1(2245), CRB1(23418)]
HYPERMOBILITY OF DISTAL INTERPHALANGEAL JOINTS(HP:0006201)	[COL3A1(1281)]
HYPERMOBILITY OF INTERPHALANGEAL JOINTS(HP:0005620)	[COL3A1(1281)]
HYPERMYELINATED RETINAL FIBERS(HP:0007922)	[SACS(26278)]
HYPERNASAL SPEECH(HP:0001614)	[MED12(9968), SNRPN(6638), UPF3B(65109), NDN(4692), DGCR(1714), TBX1(6899), TFAP2A(7020), LIFR(3977)]
HYPERNATREMIA(HP:0003228)	[AQP2(359), AVPR2(554)]
HYPERNATREMIC DEHYDRATION(HP:0004906)	[SPINK5(11005)]
HYPEROPIC ASTIGMATISM(HP:0000484)	[GNPTAB(79158)]
HYPERORALITY(HP:0000710)	[CHMP2B(25978), PSEN1(5663), GRN(2896), MAPT(4137)]
HYPEROSTOSES OF CALVARIA, FACIAL BONES, AND MANDIBLE(HP:0004472)	[PTEN(5728)]
HYPEROSTOSIS FRONTALIS INTERNA(HP:0004438)	[ALMS1(7840)]
HYPEROXALURIA(HP:0003159)	[GRHPR(9380), AGXT(189)]
HYPERPARATHYROIDISM(HP:0000843)	[RET(5979), GNAS(2778), CYP27B1(1594), VDR(7421), MEN1(4221), CDC73(79577), CASR(846)]
HYPERPHAGIA(HP:0000724)	[PSEN1(5663), GRN(2896), MAPT(4137)]
HYPERPHENYLALANINEMIA(HP:0004923)	[PAH(5053), GCH1(2643), PCBD1(5092)]
HYPERPHOSPHATEMIA(HP:0002905)	[TBCE(6905), GNAS(2778), GCM2(9247), PTH(5741), TNFRSF11B(4982), KL(9365), GALNT3(2591), GNASAS(149775), CASR(846), STX16(8675), FGF23(8074)]
HYPERPHOSPHATURIA(HP:0003109)	[CLCN5(1184), COX6B1(1340), FASTKD2(22868), SLC2A2(6514), ATP7B(540), ALDOB(229), OCRL(4952), PTH1R(5745), CASR(846)]
HYPERPIGMENTATION(HP:0000953)	[GJB6(10804), TINF2(26277), OCA2(4948), HPS5(11234), NHP2(55651), FERMT1(55612), AAAS(8086), APC(324), BLOC1S3(388552), STK11(6794), FANCD2(2177), FANCC(2176), ABCD1(215), FANCE(2178), MC2R(4158), HFE(3077), DTNBP1(84062), CYP11B1(1584), NOP10(55505), SMARCAL1(50485), MSH2(4436), KRT5(3852), MSH6(2956), TERC(7012), TERT(7015), HPS3(84343), MLH1(4292), FANCA(2175), TP63(8626), UROD(7389), SEC23A(10484), PMS2(5395), PORCN(64840), UROS(7390), HPS1(3257), BLM(641), NR0B1(190), MMP2(4313), GBA(2629), KITLG(4254), MRAP(56246), HPS4(89781), KRT14(3861), HPS6(79803)]
HYPERPIGMENTATION IN SUN-EXPOSED AREAS(HP:0005586)	[BLOC1S3(388552), OCA2(4948), HPS3(84343), HPS4(89781), UROD(7389), HPS5(11234), HPS1(3257), HPS6(79803), DTNBP1(84062)]
HYPERPIGMENTED ERYTHEMATOUS LESIONS(HP:0007442)	[MMP2(4313)]
HYPERPIGMENTED MACULES(HP:0001034)	[SMARCAL1(50485), MSH2(4436), MSH6(2956), MMP2(4313), STK11(6794), MLH1(4292), PMS2(5395)]
HYPERPIGMENTED SKIN PATCHES(HP:0007492)	[KITLG(4254)]
HYPERPIGMENTED SPOTS ON HANDS , LEGS, AND LIPS(HP:0007491)	[STK11(6794)]
HYPERPIGMENTED/HYPOPIGMENTED MACULES(HP:0007441)	[SMARCAL1(50485), ADAR(103), MSH2(4436), MSH6(2956), MMP2(4313), STK11(6794), MLH1(4292), PMS2(5395), MEN1(4221), TSC1(7248), TSC2(7249)]
HYPERPLASTIC FEMORAL TROCHANTERS(HP:0002822)	[TRPV4(59341)]
HYPERPROLACTINEMIA(HP:0000870)	[GNAS(2778), INSR(3643)]
HYPERPROLINEMIA(HP:0008358)	[PRODH(5625), ALDH4A1(8659)]
HYPERPROSTAGLANDINURIA(HP:0003527)	[SLC12A1(6557), KCNJ1(3758)]
HYPERREFLEXIA(HP:0001347)	[AUH(549), ATRX(546), DDC(1644), SACS(26278), SETX(23064), ANCR(282), GAN(8139), NSD1(64324), MAT1A(4143), SLC6A19(340024), DPM1(8813), MCCC1(56922), SLC16A2(6567), ATXN7(6314), ABAT(18), CDKL5(6792), ABCB7(22), ATXN1(6310), NIPA1(123606), KIF5A(3798), MCOLN1(57192), MCPH1(79648), C10orf2(56652), C20orf7(79133), GJA1(2697), MPV17(4358), CREBBP(1387), NAGA(4668), MAN2B1(4125), FBXO7(25793), LMNB1(4001), ENPP1(5167), GPR56(9289), SDHA(6389), MECP2(4204), PSAP(5660), HTT(3064), AAAS(8086), SPG20(23111), KCNC3(3748), PSEN1(5663), ATXN10(25814), NDUFA1(4694), UBE3A(7337), PQBP1(10084), BSCL2(26580), HPRT1(3251), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), KCNA1(3736), ATP13A2(23400), NDUFV1(4723), NDUFS2(4720), OFD1(8481), KDM5C(8242), NDUFS6(4726), TTBK2(146057), NDUFS4(4724), SDHAF1(644096), HSD17B10(3028), PRNP(5621), ARSA(410), SLC25A15(10166), EP300(2033), PLA2G6(8398), ATL1(51062), LARGE(9215), ERCC3(2071), ITPR1(3708), CCT5(22948), SPG7(6687), PLP1(5354), KIAA0196(9897), NDUFAF2(91942), GARS(2617), SPAST(6683), ALS2(57679), TREX1(11277), FAM126A(84668), NEU1(4758), PAH(5053), GALC(2581), NDUFAF3(25915), SPG11(80208), DLAT(1737), SPTBN2(6712), LBR(3930), ARX(170302), JPH3(57338), PRKCG(5582), OPA3(80207), RAB3GAP1(22930), GAD1(2571), ZFYVE26(23503), ST3GAL5(8869), CYP7B1(9420), HSPD1(3329), PINK1(65018), DGUOK(1716), PARK2(5071), SLC2A1(6513), HEXB(3074), CHMP2B(25978), PPP2R2B(5521), ALG3(10195), MFN2(9927), VLDLR(7436), TIMM8A(1678), GBA(2629), PDE8B(8622)]
HYPERREFLEXIA MAY OCCUR(HP:0007184)	[PARK2(5071)]
HYPERSEGMENTATION OF NEUTROPHIL NUCLEI(HP:0004821)	[FTCD(10841)]
HYPERSPLENISM(HP:0001971)	[ABCA1(19), GBA(2629)]
HYPERTELORISM(HP:0000316)	[FBN1(2200), RET(5979), AVP(551), ATRX(546), TGFBR1(7046), CCBE1(147372), SALL4(57167), NSD1(64324), HSD17B4(3295), DPM1(8813), GLI3(2737), ESCO2(157570), ALX3(257), HRAS(3265), PTCH1(5727), GNE(10020), GLB1(2720), CHRNA1(1134), UPK3A(7380), GPC3(2719), TMEM216(51259), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), SEC23A(10484), PEX1(5189), B3GALTL(145173), ROR2(4920), DDR2(4921), ACOX1(51), CHRNG(1146), CHRND(1144), POR(5447), SLC12A6(9990), PTH1R(5745), FH(2271), ZEB2(9839), RAPSN(5913), FGFR1(2260), FGFR3(2261), FGFR2(2263), COL11A2(1302), COL11A1(1301), FGF10(2255), SOS1(6654), CECR(1055), FGD1(2245), KCNJ2(3759), ACY1(95), FUCA1(2517), PEX26(55670), TBCE(6905), TBX1(6899), PEX3(8504), RUNX2(860), SNAP29(9342), OFD1(8481), FAM123B(139285), DOK7(285489), CHD7(55636), PEX19(5824), ABCD3(5825), PEX2(5828), TWIST1(7291), PEX5(5830), RPS6KA3(6197), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), MID1(4281), SOX9(6662), BUB1B(701), NF1(4763), DNMT3B(1789), MKS1(54903), LBR(3930), RECQL4(9401), PDHX(8050), WHCR(7467), CD96(10225), EHMT1(79813), WHSC1(7468), PAX3(5077), ZMPSTE24(10269), PTPN11(5781), MED12(9968), RMRP(6023), DHCR7(1717), TRIM37(4591), DGCR(1714), SH3PXD2B(285590), FREM2(341640), FRAS1(80144), ALG1(56052), STAT3(6774), SOST(50964), KRAS(3845), TFAP2B(7021), EFNB1(1947), TFAP2A(7020), SEMA3E(9723), EIF2AK3(9451), MMP2(4313), GBA(2629)]
HYPERTENSION(HP:0000822)	[RET(5979), LYZ(4069), CPOX(1371), BBS5(129880), TRIM32(22954), ARL6(84100), ERCC6(2074), AVPR2(554), HSD11B2(3291), PDE11A(50940), THPO(7066), HMBS(3145), NF1(4763), MYH9(4627), FMO3(2328), FN1(2335), BBS9(27241), GLA(2717), UPK3A(7380), PPARG(5468), KIF1B(23095), PKHD1(5314), PTGIS(5740), AIP(9049), WT1(7490), INVS(27130), MKS1(54903), AGTR1(185), PRKAR1A(5573), MPL(4352), SLC12A3(6559), SLC12A1(6557), MKKS(8195), LMNA(4000), SDHD(6392), ERCC8(1161), SDHC(6391), SDHB(6390), CEP290(80184), BBS12(166379), SERPINA6(866), SLC17A3(10786), NME1(4830), PNMT(5409), APOA1(335), KCNJ1(3758), CYP21A2(1589), CFH(3075), PKD2(5311), COL4A5(1287), CYP17A1(1586), CYP11B2(1585), FGA(2243), TTC8(123016), CYP11B1(1584), SMARCAL1(50485), SLC37A4(2542), BBS1(582), G6PC(2538), BBS2(583), CLCNKB(1188), BBS4(585), WNK4(65266), VHL(7428), PPP1R3A(5506), JAK2(3717), SSTR5(6755), WNK1(65125), BBS10(79738), CCND1(595), BBS7(55212), ALMS1(7840), SCNN1G(6340), SCNN1B(6338), NR3C1(2908)]
HYPERTENSION (WITH PHEOCHROMOCYTOMA)(HP:0002640)	[SDHD(6392), SDHC(6391)]
HYPERTENSIVE RETINOPATHY(HP:0001095)	[RET(5979), KIF1B(23095), SDHD(6392), SDHB(6390), VHL(7428), HSD11B2(3291)]
HYPERTHREONINEMIA(HP:0003354)	[GUCY2D(3000)]
HYPERTHREONINURIA(HP:0003296)	[GUCY2D(3000)]
HYPERTHYROIDISM(HP:0000836)	[GNAS(2778), THRB(7068), TSHR(7253), PTEN(5728)]
HYPERTONIA(HP:0001276)	[TINF2(26277), ATRX(546), GPR56(9289), NSD1(64324), PRPS1(5631), MECP2(4204), POLG(5428), SLC6A19(340024), BRAF(673), PRPS2(5634), MAP2K1(5604), PSAP(5660), MAP2K2(5605), DHCR7(1717), SLC2A1(6513), CYB5R3(1727), HLCS(3141), PHGDH(26227), ITM2B(9445), GALC(2581), GCH1(2643), ALG3(10195), MFN2(9927), KRAS(3845), TSEN54(283989), DLD(1738), PSAT1(29968), EIF2AK3(9451), ACOX1(51), BCKDHA(593), BCKDHB(594), ARX(170302), GFM1(85476), DBT(1629), PNP(4860), SUOX(6821), ATP7A(538), GAD1(2571), TOR1A(1861)]
HYPERTONIC DEHYDRATION(HP:0001986)	[AQP2(359), SPINK5(11005), AVPR2(554), SLC5A1(6523)]
HYPERTONIC SEIZURES(HP:0002184)	[SCN9A(6335), SCN1A(6323), GPR98(84059)]
HYPERTONICITY(HP:0002388)	[PCCB(5096), LBR(3930), GPHN(10243), GCH1(2643), KDM5C(8242), DDC(1644), SLC6A5(9152), GLRB(2743), GLRA1(2741), NIPBL(25836), PCCA(5095)]
HYPERTRICHOSIS(HP:0000998)	[NDUFS7(374291), INSR(3643), SDHA(6389), BCS1L(617), UROS(7390), DLD(1738), BLM(641), SURF1(6834), IDS(3423), NDUFS3(4722), NDUFV1(4723), MMP2(4313), COX15(1355), NDUFS4(4724), NDUFA2(4695), FST(10468), NDUFS8(4728), MAN2B1(4125), GLB1(2720), C8orf38(137682)]
HYPERTRIGLYCERIDEMIA(HP:0002155)	[BSCL2(26580), FECH(2235), ALMS1(7840), ERCC8(1161), AGPAT2(10555), APOE(348), JAG1(182), SMPD1(6609), APOC2(344)]
HYPERTROPHIC AURICULAR CARTILAGE(HP:0008608)	[SLC26A2(1836)]
HYPERTROPHIC CARDIOMYOPATHY(HP:0001639)	[MYBPC3(4607), SDHA(6389), BCS1L(617), TSFM(10102), NDUFAF2(91942), BRAF(673), MAP2K1(5604), PTPN11(5781), MAP2K2(5605), FAH(2184), CRYAB(1410), HRAS(3265), MYH7(4625), NDUFA1(4694), UQCRQ(27089), FXN(2395), GNPTAB(79158), GLB1(2720), UQCRB(7381), BSCL2(26580), ACADL(33), NDUFAF3(25915), COX6B1(1340), ACADVL(37), MRPS22(56945), CAV3(859), NDUFA11(126328), TNNT2(7139), KRAS(3845), NDUFAF4(29078), NDUFS1(4719), MYLK2(85366), DES(1674), SCO2(9997), NDUFV1(4723), NDUFS2(4720), SLC25A4(291), HADH(3033), NDUFS6(4726), C20orf7(79133), NDUFS4(4724), FASTKD2(22868), TPM1(7168), LAMP2(3920), SDHAF1(644096), MLYCD(23417)]
HYPERTROPHIC CLITORIS(HP:0008665)	[HCCS(3052)]
HYPERTROPHIC ICHTHYOSIS, ESP SCALP, EARS, NECK AND FLEXURES(HP:0007547)	[STS(412)]
HYPERTROPHIC NERVE CHANGES(HP:0003382)	[EGR2(1959), MPZ(4359), LITAF(9516), GDAP1(54332), PMP22(5376), PRX(57716)]
HYPERTROPHY OF SKIN OF SOLES(HP:0007403)	[PTEN(5728)]
HYPERTROPHY OF THE PULMONARY ARTERY WALL(HP:0004939)	[LIFR(3977)]
HYPERURICEMIA(HP:0002149)	[HPRT1(3251), PPARG(5468), SLC37A4(2542), UOX(391051), TNFRSF11B(4982), G6PC(2538), ALDOB(229), PRPS1(5631), PRPS2(5634), PPP1R3A(5506), PFKM(5213), CLDN16(10686), HNF1B(6928), ALMS1(7840), SLC17A3(10786), UMOD(7369)]
HYPERURICOSURIA(HP:0003149)	[HPRT1(3251), ALDOB(229), PRPS1(5631)]
HYPERVENTILATION(HP:0002883)	[SUCLG1(8802), FBP1(2203), HLCS(3141), MECP2(4204)]
HYPNAGOGIC HALLUCINATIONS(HP:0002519)	[HCRT(3060)]
HYPNOPOMPIC HALLUCINATIONS(HP:0006896)	[HCRT(3060)]
HYPOADRENALISM(HP:0000865)	[LHX4(89884), PROP1(5626)]
HYPOALBUMINEMIA(HP:0003073)	[PLCE1(51196), SAR1B(51128), NPHS2(7827), CCBE1(147372), C10orf2(56652), MPI(4351), DGUOK(1716), NPHS1(4868), MPV17(4358), SMAD4(4089), APTX(54840), PMM2(5373), BMPR1A(657)]
HYPOALDOSTERONISM(HP:0000355)	[AIRE(326), SCNN1G(6340), SCNN1B(6338), CYP11B2(1585), HSD11B2(3291)]
HYPOALDOSTERONISM, TRANSIENT, ISOLATED(HP:0008184)	[AIRE(326)]
HYPOBETALIPOPROTEINEMIA(HP:0003563)	[PANK2(80025), APOB(338), MTTP(4547), SLC4A1(6521)]
HYPOCALCEMIA(HP:0002901)	[TBCE(6905), GNAS(2778), PTH(5741), TBX1(6899), VDR(7421), GNASAS(149775), TRPM6(140803), DGCR(1714), GCM2(9247), CYP27B1(1594), CASR(846), UBR1(197131), STX16(8675), SLC4A1(6521)]
HYPOCALCEMIC TETANY(HP:0003472)	[GNAS(2778)]
HYPOCALCIURIA(HP:0003127)	[CLCNKB(1188), CASR(846)]
HYPOCHLOREMIA(HP:0003113)	[BSND(7809), SLC12A1(6557), CLCNKB(1188), KCNJ1(3758), SLC26A3(1811)]
HYPOCHOLESTEROLEMIA(HP:0003146)	[ABCA1(19), DHCR7(1717), PEX2(5828), PEX1(5189), ALAS2(212), PMM2(5373), PEX26(55670)]
HYPOCHROMIC ANEMIA(HP:0001931)	[ALAS2(212), PUS1(80324)]
HYPOCHROMIC, MICROCYTIC ANEMIA(HP:0004840)	[ABCB7(22)]
HYPOCORTISOLEMIA(HP:0008220)	[PCSK1(5122), GLI3(2737)]
HYPODENSITY OF CEREBRAL WHITE MATTER ON MRI(HP:0007103)	[TREX1(11277), TYMP(1890), POLG(5428), LAMA2(3908)]
HYPODONTIA(HP:0000668)	[MKKS(8195), WHCR(7467), WHSC1(7468), BBS5(129880), TRIM32(22954), COL17A1(1308), CLDN1(9076), RPS6KA3(6197), ARL6(84100), TBX3(6926), FGFR3(2261), EVC2(132884), CEP290(80184), BBS12(166379), EDARADD(128178), FLNB(2317), EDA(1896), IKBKG(8517), RMRP(6023), ITGB4(3691), FGF10(2255), FGD1(2245), EDAR(10913), BBS9(27241), EVC(2121), TTC8(123016), PITX2(5308), LAMB3(3914), LAMC2(3918), BBS1(582), BBS2(583), TP63(8626), IRF6(3664), PORCN(64840), BBS4(585), LAMA3(3909), MKS1(54903), BBS10(79738), BBS7(55212), WNT10A(80326), CTSK(1513), PVRL1(5818), MSX1(4487), ADAMTS2(9509)]
HYPODYSPLASIA OF THE CORPUS CALLOSUM(HP:0006849)	[ZFYVE26(23503), BUB1B(701), ASPA(443), ARX(170302), L1CAM(3897), IGBP1(3476)]
HYPOGLYCEMIA(HP:0001943)	[CPT1A(1374), FBP1(2203), GLUD1(2746), NSD1(64324), PYGL(5836), NDUFAF2(91942), H19(283120), HMGCL(3155), MCCC1(56922), SLC16A1(6566), PROP1(5626), FAH(2184), KCNQ1OT1(10984), SLC22A5(6584), UQCRQ(27089), DOLK(22845), GYS2(2998), MC2R(4158), UQCRB(7381), ACADM(34), ACADL(33), SLC25A20(788), NDUFAF3(25915), ACADSB(36), ACADVL(37), DLD(1738), ETFDH(2110), CRH(1392), ETFB(2109), ABCC8(6833), ETFA(2108), PNPO(55163), C10orf2(56652), DBT(1629), C20orf7(79133), MPV17(4358), MRAP(56246), AGL(178), DBH(1621), CPT2(1376), GH1(2688), KCNJ11(3767), INSR(3643), ACAD9(28976), LHX4(89884), BCS1L(617), CDKN1C(1028), PRKAG2(51422), DGUOK(1716), SLC17A3(10786), NDUFA1(4694), CYP21A2(1589), MEN1(4221), SLC37A4(2542), GCK(2645), G6PC(2538), PCK1(5105), PHKA2(5256), ALDOB(229), NDUFA11(126328), NDUFAF4(29078), PCK2(5106), PCSK1(5122), NDUFS1(4719), PCCB(5096), BCKDHA(593), NDUFV1(4723), NDUFS2(4720), HADHB(3032), BCKDHB(594), HADH(3033), NDUFS6(4726), NDUFS4(4724), PC(5091), HADHA(3030), MLYCD(23417), HSD17B10(3028), PCCA(5095), GCDH(2639)]
HYPOGLYCEMIA, EPISODIC, IN INFANTS(HP:0004917)	[DBH(1621)]
HYPOGLYCEMIA, HYPOKETOTIC(HP:0005969)	[HADH(3033)]
HYPOGLYCEMIC COMA(HP:0001325)	[GLUD1(2746), INSR(3643), GCK(2645), SH2D1A(4068), FGFR1(2260), NSD1(64324), FGFR2(2263), ETFDH(2110), SLC16A1(6566), ABCC8(6833), ETFB(2109), ETFA(2108), OFD1(8481), HADH(3033), BTK(695), DNMT3B(1789)]
HYPOGONADISM(HP:0000135)	[DMPK(1760), ATRX(546), ARSE(415), BBS5(129880), ERCC2(2068), TRIM32(22954), ERCC3(2071), STS(412), PROK2(60675), NELF(26012), ARL6(84100), PROP1(5626), SOX2(6657), COQ2(27235), FANCD2(2177), FANCC(2176), PMM2(5373), FANCE(2178), BBS9(27241), DCAF17(80067), MKS1(54903), GTF2H5(404672), RAB3GAP2(25782), KISS1R(84634), NR0B1(190), SIL1(64374), RECQL4(9401), PROKR2(128674), BMPR1B(658), CTDP1(9150), MKKS(8195), SNRPN(6638), ATM(472), ERCC8(1161), FGFR1(2260), TAC3(6866), CEP290(80184), BCS1L(617), BBS12(166379), POLG(5428), TACR3(6870), AIRE(326), PDSS2(57107), CUL4B(8450), NDN(4692), WRN(7486), GNRH1(2796), PDSS1(23590), ABCD1(215), HFE(3077), TTC8(123016), CNBP(7555), LHCGR(3973), COQ9(57017), GNAS(2778), LHB(3972), ALG1(56052), SLC39A4(55630), KAL1(3730), BBS1(582), BBS2(583), TP63(8626), FANCA(2175), BBS4(585), PCSK1(5122), SEMA3E(9723), BBS10(79738), BBS7(55212), ALMS1(7840), APTX(54840), AR(367), CHD7(55636), CABC1(56997)]
HYPOGONADISM, FEMALE(HP:0000134)	[AIRE(326), ATM(472)]
HYPOGONADISM, MALE(HP:0000026)	[LHB(3972), GNRH1(2796)]
HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044)	[CTDP1(9150), SNRPN(6638), KAL1(3730), PROK2(60675), NELF(26012), TP63(8626), FGFR1(2260), TAC3(6866), BCS1L(617), PCSK1(5122), DCAF17(80067), SEMA3E(9723), TACR3(6870), RAB3GAP2(25782), KISS1R(84634), NDN(4692), SOX2(6657), NR0B1(190), GNRH1(2796), PROKR2(128674), HFE(3077), CHD7(55636)]
HYPOHIDROSIS(HP:0000966)	[EDA(1896), GLA(2717), TTR(7276), LMNB1(4001), MBTPS2(51360), TP63(8626), KRT14(3861), EDAR(10913), EDARADD(128178), GJB2(2706), CTNS(1497)]
HYPOHIDROSIS/HYPERHIDROSIS(HP:0007550)	[KRT14(3861)]
HYPOKALEMIA(HP:0002900)	[CLCNKB(1188), AIP(9049), SLC26A3(1811), HSD11B2(3291), CA2(760), SLC12A3(6559), BSND(7809), SLC2A2(6514), SLC12A1(6557), SCNN1G(6340), KCNJ2(3759), SMAD4(4089), KCNJ1(3758), CACNA1S(779), BMPR1A(657), SLC4A1(6521), SCNN1B(6338), CYP11B1(1584)]
HYPOKALEMIC ALKALOSIS(HP:0001949)	[SLC12A3(6559), BSND(7809), SLC12A1(6557), CLCNKB(1188), SCNN1G(6340), KCNJ1(3758), CYP17A1(1586), SCNN1B(6338), NR3C1(2908)]
HYPOKALEMIC HYPOCHLOREMIC METABOLIC ALKALOSIS(HP:0004909)	[BSND(7809), CLCNKB(1188)]
HYPOKALEMIC METABOLIC ALKALOSIS(HP:0001960)	[BSND(7809), SLC12A1(6557), CLCNKB(1188), KCNJ1(3758)]
HYPOKETOTIC HYPOGLYCEMIA(HP:0001985)	[CPT1A(1374), HADHB(3032), DOLK(22845), HADHA(3030), CPT2(1376)]
HYPOKINESIA(HP:0002375)	[TH(7054), PEX19(5824), ARSA(410), PGK1(5230), P2RY12(64805), FBP1(2203), AUH(549), PEX5(5830), DDC(1644), MCCC1(56922), NPC2(10577), NPC1(4864), COQ2(27235), TYMP(1890), TK2(7084), ACADS(35), ASPA(443), PEX10(5192), PEX14(5195), PEX13(5194), MRPS22(56945), PEX1(5189), DLAT(1737), CYBA(1535), C10orf2(56652), SLC25A4(291), GFM1(85476), MPV17(4358), GNPAT(8443), ALDH5A1(7915), PDHX(8050), MRPS16(51021), LAMP2(3920), MBD5(55777), PDHA1(5160), POLG(5428), LMBRD1(55788), TSFM(10102), PDP1(54704), NCF2(4688), PSAP(5660), PDSS2(57107), DGUOK(1716), PPT1(5538), LPL(4023), NCF1(653361), PDSS1(23590), ACY1(95), PEX26(55670), PHGDH(26227), COQ9(57017), GNAS(2778), ALG1(56052), COX6B1(1340), PHKA1(5255), ROBLD3(28956), PEX3(8504), CYBB(1536), ATP13A2(23400), BCHE(590), VWF(7450), HADHB(3032), HADH(3033), GBA(2629), PDE8B(8622), FASTKD2(22868), APTX(54840), HADHA(3030), TPMT(7172), HSD17B10(3028), CABC1(56997)]
HYPOMAGNESEMIA(HP:0002917)	[CLDN19(149461), CLDN16(10686), SLC12A3(6559), FXYD2(486), TRPM6(140803)]
HYPOMELANOTIC MACULES(HP:0009719)	[MEN1(4221), TSC1(7248), TSC2(7249)]
HYPOMETRIC HORIZONTAL SACCADES(HP:0007975)	[GBA(2629)]
HYPOMETRIC SACCADES(HP:0000571)	[NPHP1(4867), GBA(2629), APTX(54840)]
HYPOMIMIC FACE(HP:0000338)	[ATP1A3(478)]
HYPOMINERALIZATION OF ENAMEL(HP:0006285)	[PHEX(5251)]
HYPOMYELINATION(HP:0003429)	[CTDP1(9150), EIF2B2(8892), EIF2B5(8893), EGR2(1959), SOX10(6663), MPZ(4359), EIF2B4(8890), EIF2B3(8891), GDAP1(54332), EIF2B1(1967), GJC2(57165)]
HYPOMYELINATION OF THE BRAIN(HP:0006808)	[GJC2(57165)]
HYPOMYELINATION ON NERVE BIOPSY(HP:0007182)	[CTDP1(9150), EGR2(1959), SOX10(6663), MPZ(4359)]
HYPONATREMIA(HP:0002902)	[NR0B1(190), BSND(7809), CLCNKB(1188), SCNN1G(6340), AVPR2(554), SLC26A3(1811), SCNN1A(6337), CYP11B2(1585), SCNN1B(6338), CTNS(1497)]
HYPOPARATHYROIDISM(HP:0000829)	[AIRE(326), GATA3(2625), TBCE(6905), GCM2(9247), PTH(5741), ATP7B(540), PTH1R(5745), CASR(846), COL4A5(1287)]
HYPOPHOSPHATEMIA(HP:0002148)	[SUCLG1(8802), PHEX(5251), CLCN5(1184), ALDOB(229), VDR(7421), FGF23(8074), CYP2R1(120227), CTNS(1497), FAH(2184), CYP27B1(1594), SLC2A2(6514), SLC34A3(142680), PTH1R(5745), CASR(846), DMP1(1758)]
HYPOPHOSPHATEMIC RICKETS(HP:0004912)	[FAH(2184), CLCN5(1184), PHEX(5251), SLC34A3(142680), DMP1(1758), CTNS(1497)]
HYPOPIGMENTATION OF THE FUNDUS(HP:0007894)	[COL4A1(1282)]
HYPOPIGMENTATION OF THE SKIN(HP:0001010)	[SNRPN(6638), ANCR(282), MECP2(4204), EDNRB(1910), FERMT1(55612), SOX10(6663), NDN(4692), CDKL5(6792), MITF(4286), SNAI2(6591), COL4A1(1282), UBE3A(7337), MEN1(4221), PAH(5053), MYO5A(4644), LYST(1130), ROBLD3(28956), TP63(8626), PTEN(5728), UROS(7390), BLM(641), TSC1(7248), TSC2(7249), RAB27A(5873), TYR(7299), AP3B1(8546), SLC17A5(26503), ATP7A(538)]
HYPOPIGMENTED FUNDI(HP:0001487)	[GPR143(4935), MITF(4286), PAX3(5077)]
HYPOPIGMENTED SKIN PATCHES(HP:0001053)	[SOX10(6663), EDNRB(1910)]
HYPOPITUITARISM(HP:0000830)	[BMP4(652), SHH(6469), SIX3(6496), SOX3(6658), GNRH1(2796), LHX3(8022), GLI3(2737), PROP1(5626)]
HYPOPLASIA FO THE PHALANGES OF THE TOES(HP:0010746)	[IHH(3549)]
HYPOPLASIA INVOLVING BONES OF THE EXTREMITIES(HP:0009826)	[CD96(10225), COMP(1311), NPR2(4882), TBX15(6913), FGFR1(2260), FGFR3(2261), EVC2(132884), AGPS(8540), GDF5(8200), MMP13(4322), COL11A2(1302), DPM1(8813), FLNB(2317), DHCR24(1718), SLC26A2(1836), RMRP(6023), NOG(9241), PAPSS2(9060), MATN3(4148), DYM(54808), GPC6(10082), SH3PXD2B(285590), COL2A1(1280), EVC(2121), GNPTAB(79158), CANT1(124583), ADAMTSL2(9719), TRIP11(9321), CRTAP(10491), PEX7(5191), HYLS1(219844), B3GALTL(145173), ROR2(4920), EFNB1(1947), NIPBL(25836), DDR2(4921), SHOX(6473), LIFR(3977), EBP(10682), LBR(3930), GNPAT(8443), ALPL(249), CHST3(9469), PTH1R(5745), ADAMTS2(9509), GHR(2690)]
HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS(HP:0009816)	[NOG(9241)]
HYPOPLASIA INVOLVING BONES OF THE UPPER LIMBS(HP:0009824)	[LBR(3930), HYLS1(219844), DPM1(8813)]
HYPOPLASIA INVOLVING FOREARM BONES(HP:0009821)	[B2M(567), FGF10(2255), NPR2(4882), TRIP11(9321), FGFR3(2261), RECQL4(9401), COL2A1(1280), GDF5(8200), JAG1(182), SHOX(6473), BMPR1B(658)]
HYPOPLASIA OF CHOROID(HP:0007757)	[TRIM37(4591)]
HYPOPLASIA OF DELTOID MUSCLE(HP:0009044)	[SALL4(57167)]
HYPOPLASIA OF FIRST RIBS(HP:0006657)	[LMX1B(4010)]
HYPOPLASIA OF INFERIOR VERMIS AND CEREBELLUM(HP:0005724)	[L1CAM(3897)]
HYPOPLASIA OF PROXIMAL FIBULA(HP:0006442)	[ATR(545)]
HYPOPLASIA OF PROXIMAL RADIUS(HP:0006434)	[ATR(545)]
HYPOPLASIA OF THE BRAINSTEM(HP:0002365)	[TUBA1A(7846), TMEM216(51259), LARGE(9215), GPR56(9289), MYH3(4621), INPP5E(56623)]
HYPOPLASIA OF THE CILIARY BODY(HP:0007774)	[LAMB2(3913)]
HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079)	[FKRP(79147), ZFYVE26(23503), CD96(10225), ASPA(443), LARGE(9215), ZEB2(9839), HSD17B4(3295), EFNB1(1947), FKTN(2218), BUB1B(701), DHCR7(1717), SOX2(6657), ARX(170302), GFM1(85476), L1CAM(3897), IGBP1(3476), POMT1(10585), RAB3GAP1(22930), POMT2(29954)]
HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882)	[GPC3(2719), ARSE(415), PCNT(5116), GGCX(2677), MGP(4256), H19(283120), FLNA(2316), GLI3(2737), NOG(9241), KDM5C(8242), PHF6(84295), HOXD13(3239), HOXA13(3209), CHST3(9469), COL2A1(1280), IHH(3549), JAG1(182)]
HYPOPLASIA OF THE EPIGLOTTIS(HP:0005349)	[GLI3(2737)]
HYPOPLASIA OF THE IRIS(HP:0007676)	[FBN1(2200), WHCR(7467), LAMB2(3913), NDP(4693), WHSC1(7468), MITF(4286), FOXC1(2296), LRP2(4036), COL4A1(1282), ERCC6(2074), PAX3(5077), PITX2(5308)]
HYPOPLASIA OF THE MAXILLA(HP:0000327)	[FBN1(2200), EP300(2033), UPF3B(65109), TWIST1(7291), FGFR1(2260), ANCR(282), MECP2(4204), FGFR2(2263), PAX3(5077), FLNB(2317), MED12(9968), EDA(1896), ALX3(257), CDKL5(6792), ADAMTS10(81794), FGD1(2245), KCNJ2(3759), UBE3A(7337), PITX2(5308), VPS13B(157680), TP63(8626), PTEN(5728), LBR(3930), RAB3GAP2(25782), KDM5C(8242), MMP2(4313), CREBBP(1387), SLC12A6(9990)]
HYPOPLASIA OF THE METATARSAL BONES(HP:0010743)	[TRPS1(7227), SALL1(6299), GNAS(2778), VPS13B(157680), NPR2(4882), FGFR1(2260), NSD1(64324), PORCN(64840), PEX7(5191), GDF5(8200), FGFR2(2263), B3GALTL(145173), FLNA(2316), FLNB(2317), PHYH(5264), HOXD13(3239), DYM(54808), KCNJ2(3759), HOXA13(3209), SIL1(64374), COL2A1(1280)]
HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240)	[MYCN(4613), BMP4(652), FGFR1(2260), GATA1(2623), FGFR3(2261), GDF5(8200), FGFR2(2263), ROR2(4920), H19(283120), EIF2AK3(9451), DCR(1637), RUNX2(860), SLC26A2(1836), HOXD13(3239), GJA1(2697), HOXA13(3209), COL2A1(1280), IHH(3549)]
HYPOPLASIA OF THE PHARYNX(HP:0009555)	[TCOF1(6949)]
HYPOPLASIA OF THE PROXIMAL PHALANGES OF THE HAND(HP:0010241)	[NOG(9241), PCNT(5116), HOXA13(3209), SALL4(57167), COL2A1(1280), GDF5(8200), IHH(3549), CANT1(124583), ACVR1(90)]
HYPOPLASIA OF THE RADIUS(HP:0002984)	[NPR2(4882), TBX5(6910), TRIP11(9321), ATR(545), SALL4(57167), FGFR3(2261), GDF5(8200), NIPBL(25836), FGF10(2255), HOXD13(3239), RECQL4(9401), IHH(3549), WNT7A(7476)]
HYPOPLASIA OF THE TOES(HP:0004701)	[MYCN(4613), GNAS(2778), CD96(10225), NPR2(4882), FGFR3(2261), TBX3(6926), MGP(4256), GDF5(8200), FLNA(2316), RAB3GAP2(25782), NOG(9241), HOXD13(3239), PHF6(84295), HOXA13(3209), COL2A1(1280), IHH(3549), BMPR1B(658), ADAMTS2(9509)]
HYPOPLASIA OF THE ULNA(HP:0003022)	[B2M(567), FGF10(2255), SALL4(57167), FGFR3(2261), RECQL4(9401), COL2A1(1280), GDF5(8200), IHH(3549), JAG1(182), SHOX(6473), BMPR1B(658), FLNB(2317)]
HYPOPLASIA OF THE VENTRAL PONS(HP:0006850)	[VRK1(7443)]
HYPOPLASTIC ACETABULAE(HP:0003274)	[ARSB(411), DYM(54808), GLB1(2720)]
HYPOPLASTIC ANEMIA(HP:0001908)	[RMRP(6023), RPS19(6223), MVK(4598)]
HYPOPLASTIC BLADDER(HP:0005343)	[MKS1(54903)]
HYPOPLASTIC CALF MUSCLES(HP:0008962)	[FBN2(2201)]
HYPOPLASTIC CERVICAL VERTEBRAE(HP:0008434)	[SLC26A2(1836), SOX9(6662), FLNB(2317)]
HYPOPLASTIC CLAVICLES(HP:0000898)	[MSX2(4488), HOXD13(3239), LMNA(4000), NSDHL(50814), TBX3(6926), PORCN(64840), FLNA(2316), ZMPSTE24(10269), B4GALT7(11285), RUNX2(860)]
HYPOPLASTIC CLITORIS(HP:0000060)	[SNRPN(6638), NDN(4692), PORCN(64840), B3GALTL(145173), ROR2(4920)]
HYPOPLASTIC COCHLEA(HP:0008586)	[EYA1(2138)]
HYPOPLASTIC DECIDUOUS TEETH(HP:0006334)	[UBR1(197131)]
HYPOPLASTIC DENTAL ENAMEL(HP:0006297)	[EP300(2033), CLDN1(9076), ATR(545), FGFR3(2261), VDR(7421), OCRL(4952), FLNB(2317), AIRE(326), ITGB4(3691), FGF10(2255), COL7A1(1294), CYP27B1(1594), KCNJ2(3759), LAMB3(3914), GNAS(2778), LAMC2(3918), PCNT(5116), PORCN(64840), LAMA3(3909), RUNX2(860), ALDH3A2(224), OFD1(8481), GJA1(2697), CREBBP(1387), PLEC(5339), ITGA6(3655)]
HYPOPLASTIC DISTAL AND MIDDLE PHALANGES(HP:0006118)	[PHF6(84295), HOXA13(3209)]
HYPOPLASTIC DISTAL HUMERII(HP:0005025)	[GPC6(10082)]
HYPOPLASTIC FACIAL BONES(HP:0002692)	[DYM(54808)]
HYPOPLASTIC FEET(HP:0008135)	[WNT7A(7476)]
HYPOPLASTIC FEMORAL HEAD(HP:0008802)	[SLC26A2(1836)]
HYPOPLASTIC FINGERNAILS(HP:0001804)	[LBR(3930), TFAP2A(7020)]
HYPOPLASTIC FRONTAL LOBES(HP:0007333)	[MAP2K1(5604), MAP2K2(5605), DHCR7(1717), KRAS(3845), BRAF(673)]
HYPOPLASTIC FRONTAL SINUSES(HP:0002738)	[ALX3(257), AGA(175), FUCA1(2517), RUNX2(860)]
HYPOPLASTIC GENITALIA(HP:0000050)	[DCX(1641), ATRX(546), BBS5(129880), TRIM32(22954), PROK2(60675), NELF(26012), ARL6(84100), TBX3(6926), ERCC6(2074), DNAJC19(131118), GLI3(2737), BUB1B(701), SOX2(6657), UBR1(197131), BBS9(27241), BMP4(652), TMEM216(51259), DKC1(1736), IRF6(3664), SRD5A2(6716), ROR2(4920), DCAF17(80067), MKS1(54903), RAB3GAP2(25782), KISS1R(84634), POR(5447), HSPG2(3339), MKKS(8195), SNRPN(6638), HCCS(3052), ERCC8(1161), FGFR1(2260), INPP5E(56623), TAC3(6866), CEP290(80184), BBS12(166379), TACR3(6870), PTPN11(5781), CUL4B(8450), DHCR7(1717), NDN(4692), PHF6(84295), HOXA13(3209), FREM2(341640), WNT7A(7476), PQBP1(10084), TTC8(123016), PHGDH(26227), CYP11B1(1584), FRAS1(80144), LHCGR(3973), TBCE(6905), UBA1(7317), SLC39A4(55630), F13A1(2162), KAL1(3730), BBS1(582), OPHN1(4983), BBS2(583), TP63(8626), BBS4(585), SEMA3E(9723), NIPBL(25836), BBS10(79738), OFD1(8481), KDM5C(8242), BBS7(55212), CUL7(9820), AR(367), CHD7(55636)]
HYPOPLASTIC HAND(HP:0004279)	[ADAMTSL2(9719), TRPS1(7227), SNRPN(6638), TBCE(6905), GPC3(2719), NEFL(4747), GATA1(2623), FGFR1(2260), CCBE1(147372), ROR2(4920), COL11A2(1302), DPM1(8813), DDR2(4921), DCR(1637), RMRP(6023), NDN(4692), CRLF1(9244), KCNJ2(3759), FGD1(2245), RECQL4(9401), EVC(2121)]
HYPOPLASTIC HEART(HP:0001961)	[CHRNA1(1134), GJA1(2697), CHRNG(1146), CHRND(1144)]
HYPOPLASTIC HELICES(HP:0008589)	[FRAS1(80144), FREM2(341640), TFAP2A(7020)]
HYPOPLASTIC ILIA(HP:0000946)	[TRAPPC2(6399), ARSB(411), EP300(2033), TBX15(6913), RPS6KA3(6197), ERCC8(1161), CCBE1(147372), GATA1(2623), FGFR3(2261), NSD1(64324), ERCC6(2074), COL11A1(1301), FLNA(2316), DCR(1637), FLNB(2317), SLC26A2(1836), RMRP(6023), SOX9(6662), MATN3(4148), DYM(54808), COL2A1(1280), IHH(3549), WNT7A(7476), PCNT(5116), SEC23A(10484), EIF2AK3(9451), RUNX2(860), CREBBP(1387)]
HYPOPLASTIC ILIAC WINGS(HP:0002866)	[TBX15(6913), ERCC8(1161), CCBE1(147372), GATA1(2623), ERCC6(2074), WNT7A(7476), RUNX2(860), DCR(1637)]
HYPOPLASTIC IRIS STROMA(HP:0007990)	[MITF(4286), FOXC1(2296), PAX3(5077), PITX2(5308)]
HYPOPLASTIC ISCHIA(HP:0003175)	[TRIP11(9321), TBX15(6913)]
HYPOPLASTIC LABIA MAJORA(HP:0000059)	[FGFR1(2260), TP63(8626), IRF6(3664), FGFR2(2263), B3GALTL(145173), ROR2(4920), NIPBL(25836)]
HYPOPLASTIC LABIA MINORA(HP:0000064)	[SNRPN(6638), NDN(4692)]
HYPOPLASTIC LARYNX(HP:0008749)	[HYLS1(219844)]
HYPOPLASTIC LEFT ATRIUM(HP:0005156)	[STRA6(64220)]
HYPOPLASTIC LEFT HEART(HP:0004383)	[GJA1(2697)]
HYPOPLASTIC MALE GENITALIA(HP:0008721)	[SEMA3E(9723), NIPBL(25836), CHD7(55636)]
HYPOPLASTIC MYELODYSPLASIA(HP:0004832)	[TINF2(26277), TERC(7012), TERT(7015)]
HYPOPLASTIC NARES AND SEPTUM(HP:0004507)	[FLNB(2317)]
HYPOPLASTIC NASAL ALAE(HP:0000430)	[TRPS1(7227), MYH3(4621), TBX1(6899), TP63(8626), PAX3(5077), FLNB(2317), EDA(1896), ESCO2(157570), NOG(9241), OFD1(8481), GJA1(2697), MITF(4286), RECQL4(9401), UBR1(197131)]
HYPOPLASTIC NASAL BRIDGE(HP:0005281)	[DHCR24(1718)]
HYPOPLASTIC NASAL SEPTUM(HP:0005104)	[NOG(9241), FLNB(2317)]
HYPOPLASTIC NASAL TIP(HP:0005278)	[EFNB1(1947)]
HYPOPLASTIC NIPPLES(HP:0002557)	[IKBKG(8517), CHRNG(1146), TP63(8626), TBX3(6926), GNE(10020), UBR1(197131), NIPBL(25836)]
HYPOPLASTIC NOSTRILS(HP:0004497)	[FRAS1(80144), FREM2(341640), FLNB(2317)]
HYPOPLASTIC ODONTOID PROCESS(HP:0003311)	[ARSB(411), GUSB(2990), COMP(1311), GALNS(2588), DDR2(4921), EIF2AK3(9451), FLNB(2317), TRPV4(59341), DYM(54808), FGD1(2245), COL2A1(1280), GNPTAB(79158), GLB1(2720)]
HYPOPLASTIC OLFACTORY LOBES(HP:0006894)	[PEX19(5824), PEX10(5192), PEX14(5195), PEX5(5830), PEX13(5194), PEX1(5189), PEX3(8504), PEX26(55670)]
HYPOPLASTIC OPTIC DISCS WITH DOUBLE MARGIN(HP:0007890)	[HESX1(8820)]
HYPOPLASTIC OPTIC DISKS(HP:0007766)	[SNAP29(9342), HESX1(8820), SALL4(57167)]
HYPOPLASTIC OVARY(HP:0008724)	[PTPN11(5781)]
HYPOPLASTIC PELVIC BONES(HP:0008816)	[NSDHL(50814), COL2A1(1280)]
HYPOPLASTIC PELVIS(HP:0008839)	[WNT7A(7476)]
HYPOPLASTIC PINNAE(HP:0008621)	[EYA1(2138)]
HYPOPLASTIC PROSTATE(HP:0008687)	[PHF6(84295)]
HYPOPLASTIC PUBIC BONES(HP:0003173)	[MATN3(4148), TBX15(6913), COL2A1(1280), WNT7A(7476)]
HYPOPLASTIC PULMONARY VEINS(HP:0005304)	[CRTAP(10491)]
HYPOPLASTIC RADIAL HEAD(HP:0003997)	[NIPBL(25836), LMX1B(4010)]
HYPOPLASTIC RIBS(HP:0000908)	[DYNC2H1(79659), NSD1(64324), EVC2(132884), PORCN(64840), FGFR3(2261), DDR2(4921), LMX1B(4010), RUNX2(860), LBR(3930), CUL7(9820), ALPL(249), NSDHL(50814), SLC35D1(23169), COL2A1(1280), PTH1R(5745), IHH(3549), EVC(2121)]
HYPOPLASTIC SACRUM(HP:0004590)	[ROR2(4920)]
HYPOPLASTIC SCAPULAE(HP:0000882)	[SOX9(6662), TRIP11(9321), TBX15(6913), FGFR3(2261), SLC35D1(23169), NSDHL(50814), TBX3(6926), GNPTAB(79158), ACTB(60)]
HYPOPLASTIC SPINAL PROCESSES(HP:0008460)	[NOG(9241)]
HYPOPLASTIC SPLEEN(HP:0006270)	[STRA6(64220)]
HYPOPLASTIC SUPERIOR HELIX(HP:0008559)	[FRAS1(80144), FREM2(341640), TFAP2A(7020)]
HYPOPLASTIC TEETH(HP:0000685)	[LMNA(4000), RPS6KA3(6197), ERCC8(1161), SEC23A(10484), ERCC6(2074), UBR1(197131), GLI3(2737)]
HYPOPLASTIC THYROID(HP:0005990)	[NSDHL(50814), PAX8(7849)]
HYPOPLASTIC TIBIA(HP:0005736)	[LMBR1(64327), HYLS1(219844), IHH(3549), SHOX(6473)]
HYPOPLASTIC TOENAILS(HP:0001800)	[FGFR1(2260), CPT2(1376)]
HYPOPLASTIC UTERUS(HP:0000013)	[SRY(6736), HCCS(3052), HNF1B(6928), DHH(50846), IRF6(3664), B3GALTL(145173), DCAF17(80067), BMPR1B(658), CYP11B1(1584)]
HYPOPLASTIC VAGINA(HP:0008726)	[IRF6(3664)]
HYPOPLASTIC VERTEBRAL BODIES(HP:0008479)	[LBR(3930), GLB1(2720)]
HYPOPLASTIC, BICORNUATE UTERUS(HP:0008735)	[STRA6(64220)]
HYPOPLASTIC, IRREGULAR METACARPALS(HP:0006160)	[FLNA(2316)]
HYPOPLASTIC, NOTCHED NARES(HP:0005286)	[FRAS1(80144), FREM2(341640)]
HYPOPLASTIC, POORLY OSSIFIED CERVICAL VERTEBRAE(HP:0008477)	[SOX9(6662)]
HYPOPLASTIC-ABSENT ECCRINE SWEAT GLANDS(HP:0007592)	[EDA(1896)]
HYPOPLASTIC-ABSENT SEBACEOUS GLANDS(HP:0007411)	[EDA(1896)]
HYPOPLASTIC/ABSENT/DEFORMED RADIUS(HP:0005046)	[TBX3(6926)]
HYPOPLASTIC/ABSENT/DEFORMED ULNA(HP:0006388)	[TBX3(6926)]
HYPOPLASTIC/APLASTIC PUBIC BONES(HP:0008841)	[WNT7A(7476)]
HYPOPLASTIC/ATROPHIC CORPUS CALLOSUM(HP:0007026)	[HSD17B4(3295)]
HYPOPLASTIC/SHORT 1ST METACARPAL(HP:0010034)	[NOG(9241), PCNT(5116), HOXA13(3209), SALL4(57167), GDF5(8200), CANT1(124583), ACVR1(90)]
HYPOPLASTIC/SHORT 3RD METACARPAL(HP:0010041)	[LBR(3930)]
HYPOPLASTIC/SHORT 4TH METACARPAL(HP:0010044)	[LBR(3930), GLI3(2737)]
HYPOPLASTIC/SHORT 5TH METACARPAL(HP:0010047)	[LBR(3930)]
HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049)	[TRPS1(7227), EXT2(2132), CD96(10225), NPR2(4882), COMP(1311), EXT1(2131), RPS6KA3(6197), FGFR1(2260), SALL4(57167), COL9A3(1299), GDF5(8200), COL11A2(1302), FLNA(2316), GLI3(2737), FLNB(2317), SLC26A2(1836), RMRP(6023), NOG(9241), KCNJ2(3759), HOXA13(3209), DYM(54808), COL2A1(1280), IHH(3549), ACVR1(90), CANT1(124583), ADAMTSL2(9719), GNAS(2778), VPS13B(157680), PCNT(5116), PORCN(64840), B3GALTL(145173), DDR2(4921), LBR(3930), RAB3GAP2(25782), HOXD13(3239), SIL1(64374), CHST3(9469), LEPRE1(64175)]
HYPOPLASTIC/SMALL 2ND FINGER(HP:0009536)	[GDF5(8200), BMPR1B(658)]
HYPOPLASTIC/SMALL 5TH FINGER(HP:0009237)	[HOXD13(3239), GJA1(2697), CUL7(9820), HOXA13(3209), GATA1(2623), ROR2(4920), H19(283120), DCR(1637)]
HYPOPLASTIC/SMALL DISTAL PHALANX OF THE 5TH FINGER(HP:0004227)	[H19(283120)]
HYPOPLASTIC/SMALL DISTAL PHALANX OF THE THUMB(HP:0009650)	[GLI3(2737)]
HYPOPLASTIC/SMALL FINGERS(HP:0009381)	[MYCN(4613), ABCA12(26154), ARSE(415), GGCX(2677), FGFR1(2260), GATA1(2623), SALL4(57167), FGFR3(2261), LMBR1(64327), GDF5(8200), MGP(4256), FGFR2(2263), H19(283120), FLNA(2316), DCR(1637), GLI3(2737), SLC26A2(1836), ESCO2(157570), NOG(9241), DHCR7(1717), PHF6(84295), HOXA13(3209), FANCD2(2177), FANCC(2176), COL2A1(1280), IHH(3549), FANCE(2178), CANT1(124583), ACVR1(90), BMP4(652), GPC3(2719), PCNT(5116), FANCA(2175), PORCN(64840), ROR2(4920), SEMA3E(9723), TFAP2A(7020), EIF2AK3(9451), RUNX2(860), KDM5C(8242), GJA1(2697), HOXD13(3239), CUL7(9820), RECQL4(9401), CHST3(9469), JAG1(182), CHD7(55636), BMPR1B(658)]
HYPOPLASTIC/SMALL HALLUX(HP:0010109)	[NOG(9241), HOXA13(3209), GDF5(8200), MGP(4256), IHH(3549), BMPR1B(658), FLNA(2316)]
HYPOPLASTIC/SMALL MIDDLE PHALANX OF THE 5TH FINGER(HP:0004220)	[HOXD13(3239), GJA1(2697), GATA1(2623), ROR2(4920), H19(283120), DCR(1637)]
HYPOPLASTIC/SMALL PHALANGES OF THE HALLUX(HP:0010111)	[IHH(3549)]
HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803)	[MYCN(4613), NPR2(4882), ARSE(415), SALL4(57167), GATA1(2623), MGP(4256), H19(283120), FLNA(2316), GLI3(2737), DCR(1637), NOG(9241), SOX9(6662), IHH(3549), CANT1(124583), BMP4(652), GPC3(2719), ROR2(4920), DDR2(4921), LBR(3930), RAB3GAP2(25782), GJA1(2697), JAG1(182), BMPR1B(658), ADAMTS2(9509), TRPS1(7227), NHS(4810), COMP(1311), GGCX(2677), FGFR1(2260), FGFR3(2261), GDF5(8200), FGFR2(2263), COL11A2(1302), ZMPSTE24(10269), SLC26A2(1836), PHF6(84295), HOXA13(3209), DYM(54808), KCNJ2(3759), COL2A1(1280), ACVR1(90), GNAS(2778), PCNT(5116), PORCN(64840), EIF2AK3(9451), LIFR(3977), RUNX2(860), KDM5C(8242), HOXD13(3239), CHST3(9469)]
HYPOPLASTIC/SMALL PHALANGES OF THE THUMB(HP:0009660)	[NOG(9241), PCNT(5116), HOXA13(3209), SALL4(57167), GDF5(8200), IHH(3549), CANT1(124583), ACVR1(90), GLI3(2737)]
HYPOPLASTIC/SMALL PROXIMAL PHALANX OF THE HALLUX(HP:0010107)	[IHH(3549)]
HYPOPLASTIC/SMALL PROXIMAL PHALANX OF THE THUMB(HP:0009638)	[IHH(3549)]
HYPOPLASTIC/SMALL THUMB(HP:0009778)	[PCNT(5116), SALL4(57167), FANCA(2175), LMBR1(64327), MGP(4256), GDF5(8200), SEMA3E(9723), TFAP2A(7020), FLNA(2316), GLI3(2737), ESCO2(157570), NOG(9241), DHCR7(1717), HOXD13(3239), HOXA13(3209), FANCD2(2177), RECQL4(9401), FANCC(2176), COL2A1(1280), FANCE(2178), IHH(3549), CHD7(55636), CANT1(124583), ACVR1(90)]
HYPOPROTEINEMIA(HP:0003075)	[B2M(567), PRSS1(5644), NPHS1(4868), LAMB2(3913), RAG2(5897), DCLRE1C(64421), RAG1(5896), TMPRSS15(5651)]
HYPOPROTEINEMIC EDEMA(HP:0007609)	[TMPRSS15(5651)]
HYPOREFLEXIA(HP:0001265)	[AMT(275), PEX19(5824), ARSA(410), MYOT(9499), ERCC2(2068), TRIM32(22954), PEX5(5830), NEFL(4747), GAN(8139), VAPB(9217), ERCC6(2074), PLP1(5354), NDUFAF2(91942), GARS(2617), IKBKAP(8518), SOX10(6663), GLDC(2731), RAB7A(7879), PMM2(5373), DNM2(1785), ATXN2(6311), SBF2(81846), NDUFAF3(25915), VPS13A(23230), PEX10(5192), KIF1B(23095), HSPB1(3315), PEX14(5195), PEX13(5194), PEX1(5189), FGD4(121512), GJB1(2705), PRX(57716), C10orf2(56652), MPZ(4359), C20orf7(79133), LITAF(9516), ALDH5A1(7915), DMD(1756), XPA(7507), HSPG2(3339), LMNA(4000), NDRG1(10397), ST3GAL5(8869), POLG(5428), MED25(81857), PSAP(5660), CRYAB(1410), EGR2(1959), HSPB8(26353), BSND(7809), NDUFA1(4694), GDAP1(54332), PEX26(55670), NEB(4703), MFN2(9927), CLCNKB(1188), NDUFA11(126328), PEX3(8504), NDUFAF4(29078), GCSH(2653), NDUFS1(4719), DES(1674), TRPV4(59341), WNK1(65125), NDUFV1(4723), NDUFS2(4720), IGHMBP2(3508), NDUFS6(4726), NDUFS4(4724), APTX(54840), AR(367), PMP22(5376), SMPD1(6609), LDB3(11155)]
HYPOREFLEXIA AT ANKLE JOINTS(HP:0009072)	[CRYAB(1410)]
HYPOREFLEXIA OF LOWER LIMBS(HP:0002600)	[CRYAB(1410), MYOT(9499), HSPB1(3315), HSPB8(26353), GAN(8139), DES(1674), LDB3(11155)]
HYPOREFLEXIA/AREFLEXIA IN LOWER LIMBS(HP:0006861)	[MYOT(9499)]
HYPOSMIA(HP:0004409)	[PTPN11(5781), UCHL1(7345), SCN9A(6335), TBP(6908), MAPT(4137), DBH(1621)]
HYPOSPADIAS(HP:0000047)	[PEX19(5824), EP300(2033), ATRX(546), PEX5(5830), ATR(545), H19(283120), FLNA(2316), DNAJC19(131118), GLI3(2737), ESCO2(157570), MID1(4281), BUB1B(701), SOX2(6657), HNF1B(6928), UBR1(197131), BMP4(652), SALL1(6299), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), DKC1(1736), SRD5A2(6716), B3GALTL(145173), ARX(170302), CHRNG(1146), CREBBP(1387), POR(5447), CYP11A1(1583), WHCR(7467), WHSC1(7468), HCCS(3052), ZEB2(9839), FGFR1(2260), EVC2(132884), FGFR3(2261), ZMPSTE24(10269), MED12(9968), PTPN11(5781), FGF10(2255), CUL4B(8450), DHCR7(1717), POLA1(5422), HOXA13(3209), CYP21A2(1589), FREM2(341640), EVC(2121), PQBP1(10084), PEX26(55670), PITX2(5308), STAR(6770), FRAS1(80144), PCNT(5116), TP63(8626), PEX3(8504), HYLS1(219844), NIPBL(25836), EFNB1(1947), TFAP2A(7020), HOXD13(3239), CUL7(9820), AR(367)]
HYPOSTHENURIA(HP:0003158)	[NPHP1(4867), SLC12A1(6557), KCNJ1(3758)]
HYPOTELORISM(HP:0000601)	[MKS1(54903), SHH(6469), SEPT9(10801), TGIF1(7050), SIX3(6496), OPHN1(4983), FGFR1(2260), PRPS1(5631), PROKR2(128674), EVC(2121), PRPS2(5634)]
HYPOTENSION(HP:0002615)	[SLC25A20(788), LMNB1(4001), DDC(1644), NTRK1(4914), CLCNKB(1188), VHL(7428), SNCA(6622), AAAS(8086), SERPINA6(866), TTR(7276), SLC12A1(6557), KCNJ1(3758), HEXB(3074), DBH(1621), CYP11B2(1585), ATP7A(538)]
HYPOTHALAMIC GONADOTROPIN-RELEASING HORMONE (GNRH) DEFICIENCY(HP:0003164)	[KAL1(3730)]
HYPOTHALAMIC HAMARTOMA(HP:0002444)	[OFD1(8481), SOX2(6657), GLI3(2737)]
HYPOTHALAMIC HYPOTHYROIDISM(HP:0008237)	[THRB(7068), TRH(7200)]
HYPOTHERMIA(HP:0002045)	[DGUOK(1716), MPV17(4358), DDC(1644), ACADSB(36), DBH(1621), ATP7A(538), C10orf2(56652), PAX8(7849)]
HYPOTHERMIA, EPISODIC, IN INFANTS(HP:0005970)	[DBH(1621)]
HYPOTHYROIDISM(HP:0000821)	[FOXE1(2304), WFS1(7466), LHX4(89884), GATA1(2623), HSD17B3(3293), APOE(348), CTNS(1497), PROP1(5626), DCR(1637), IYD(389434), FOXP3(50943), THRB(7068), NPHS1(4868), THRA(7067), DGCR(1714), PMM2(5373), TRH(7200), UBR1(197131), SLC26A4(5172), BMP4(652), SALL1(6299), GNAS(2778), NKX2-1(7080), TBX1(6899), TSHB(7252), TSHR(7253), SLC5A5(6528), PTEN(5728), TSC1(7248), TSC2(7249), DUOXA2(405753), ALMS1(7840), TPO(7173), TG(7038)]
HYPOTHYROIDISM IN SUBSET OF PATIENTS(HP:0008203)	[TSHR(7253)]
HYPOTONIA, AXIAL, IN INFANCY(HP:0009062)	[HSD17B10(3028)]
HYPOTONIC SEIZURES(HP:0002124)	[SCN9A(6335), SCN1A(6323), GPR98(84059)]
HYPOTRICHOSIS(HP:0001006)	[ST14(6768), NTRK1(4914), CLDN1(9076), SOX18(54345), EDARADD(128178), EDA(1896), CDH3(1001), GJA1(2697), CDSN(1041), WNT10A(80326), EDAR(10913), PVRL1(5818), KRT85(3891), HR(55806)]
HYPOTRICHOSIS OF THE SCALP(HP:0004782)	[GJA1(2697), NTRK1(4914), CDSN(1041)]
HYPOTRICHOSIS, PROGRESSIVE(HP:0002296)	[PVRL1(5818)]
HYPOTROPHY OF THE SMALL HAND MUSCLES(HP:0006006)	[NEFL(4747)]
HYPOURICEMIA(HP:0003537)	[SLC22A12(116085), SLC2A2(6514), PRPS1(5631)]
HYPOVENTILATION(HP:0002791)	[COL6A1(1291), FKRP(79147), SNRPN(6638), SEPN1(57190), NDN(4692), COL6A2(1292), MOGS(7841), COL6A3(1293), C20orf54(113278), MECP2(4204), DCTN1(1639)]
HYPSARRHYTHMIA(HP:0002521)	[INS(3630), KCNJ11(3767), ALG3(10195), GCK(2645), ARX(170302), NF1(4763), DOLK(22845), UPB1(51733), ABCC8(6833), PHGDH(26227)]
ICHTHYOSIFORM ABNORMALITY OF THE SKIN(HP:0008064)	[ABHD5(51099), ST14(6768), ABCA12(26154), ERCC2(2068), TGM1(7051), SPINK5(11005), STS(412), KRT1(3848), ERCC3(2071), KRT2(3849), CLDN1(9076), ALOXE3(59344), GJB2(2706), ALDH3A2(224), EBP(10682), GTF2H5(404672), MBTPS2(51360), NSDHL(50814), ALOX12B(242), POMP(51371), KRT10(3858)]
ICHTHYOSIS(HP:0000955)	[ABCA12(26154), ARSE(415), TGM1(7051), ERCC2(2068), STS(412), ERCC3(2071), CLDN1(9076), SLURP1(57152), BRAF(673), MAP2K1(5604), MAP2K2(5605), DOLK(22845), COL4A5(1287), ST14(6768), KRT1(3848), KRT2(3849), PEX7(5191), KRAS(3845), SUMF1(285362), GJB2(2706), ALDH3A2(224), EBP(10682), GTF2H5(404672), PHYH(5264), SNAP29(9342), GBA(2629), MBTPS2(51360), POMP(51371), KRT10(3858)]
ICHTHYOSIS, CONGENITAL(HP:0007478)	[ST14(6768)]
ICHTHYOSIS, CONGENITAL, NONBLISTERING(HP:0007619)	[POMP(51371)]
IDIOPATHIC NEPHROTIC SYNDROME(HP:0008727)	[NPHS2(7827)]
IDIOPATHIC THROMBOCYTOPENIA(HP:0001936)	[ADA(100), PNP(4860)]
IDIOPATHIC VENTRICULAR FIBRILLATION(HP:0005166)	[SCN5A(6331)]
IGA NEPHROPATHY(HP:0000794)	[CFH(3075)]
ILEUS(HP:0002595)	[FAH(2184), FOXP3(50943), CFTR(1080), HMBS(3145), SLC6A8(6535)]
ILIAC HORNS(HP:0009780)	[LMX1B(4010)]
IMAGING SHOWS SIGNAL ABNORMALITIES IN BASAL GANGLIA(HP:0007257)	[TK2(7084)]
IMMUNE DEFECT DUE TO A T CELL DEFICIT(HP:0005373)	[DGCR(1714), TBX1(6899)]
IMMUNE DYSREGULATION(HP:0002958)	[FOXP3(50943)]
IMMUNE THROMBOCYTOPENIA(HP:0001973)	[GALC(2581), FAS(355), NDRG1(10397), CASP10(843)]
IMMUNODEFICIENCY(HP:0002721)	[CD40(958), ZAP70(7535), CD40LG(959), SH2D1A(4068), NCF2(4688), RMRP(6023), BUB1B(701), NCF1(653361), RAG2(5897), RAG1(5896), FOXN1(8456), FREM2(341640), MLPH(79083), FRAS1(80144), ADA(100), DCLRE1C(64421), ROBLD3(28956), CD3E(916), CYBA(1535), SP110(3431), CD3G(917), IL2RG(3561), CYBB(1536), AICDA(57379), UNG(7374)]
IMMUNOGLOBULIN ABNORMALITY(HP:0100032)	[CD40(958), CD40LG(959), SH2D1A(4068), ERCC2(2068), SPINK5(11005), ATM(472), ERCC3(2071), SETX(23064), TNFRSF13B(23495), NBN(4683), MVK(4598), HBG1(3047), CIITA(4261), B2M(567), RAG2(5897), RAG1(5896), BTK(695), PMM2(5373), TCN2(6948), CNBP(7555), ADA(100), SFTPA2(729238), KRT1(3848), DCLRE1C(64421), ROBLD3(28956), PSG1(5669), SP110(3431), RFXANK(8625), IL2RG(3561), BLM(641), PCCB(5096), RFX5(5993), GTF2H5(404672), KRT16(3868), KLHDC8B(200942), RFXAP(5994), ELANE(1991), WAS(7454), FAS(355), CASP10(843), CXCR4(7852), ICOS(29851), MAN2B1(4125), KRT9(3857), PCCA(5095)]
IMMUNOLOGICAL ABNORMALITY(HP:0002715)	[CHAT(1103), MMAA(166785), TINF2(26277), SH2D1A(4068), SPINK5(11005), ATR(545), SETX(23064), CCBE1(147372), SLC35C1(55343), B2M(567), FOXP3(50943), NPHS1(4868), NPC1(4864), FANCD2(2177), FANCC(2176), KDM5D(8284), FANCE(2178), MC2R(4158), GLB1(2720), COLQ(8292), CHRNA1(1134), CFP(5199), LYST(1130), NTRK1(4914), PSTPIP1(9051), ISCW(7928), IL2RG(3561), PEPD(5184), ABCC8(6833), GJB2(2706), RFX5(5993), GTF2H5(404672), MPO(4353), MPL(4352), RFXAP(5994), AP3B1(8546), MPZ(4359), SLC17A5(26503), CHRNE(1145), CHRND(1144), UMPS(7372), UNG(7374), GIF(2694), CHRNB1(1140), ICOS(29851), MAN2B1(4125), GH1(2688), MANBA(4126), KCNJ11(3767), CDR1(1038), RAPSN(5913), NHP2(55651), NBN(4683), HBG1(3047), PDGFRA(5156), AIRE(326), NCF2(4688), CEBPE(1053), PRTN3(5657), HOXA11(3207), SBDS(51119), RAG2(5897), RAG1(5896), FOXN1(8456), FUCA1(2517), CES1(1066), CNBP(7555), LMNB2(84823), TBCE(6905), ADA(100), SLC37A4(2542), SLC39A4(55630), SFTPA2(729238), G6PD(2539), TBX1(6899), DARC(2532), PSG1(5669), CYBB(1536), TAZ(6901), IGHR(8117), LIPA(3988), DOK7(285489), IVD(3712), FAS(355), CTSC(1075), AGRN(375790), CASP10(843), CXCR4(7852), CASP8(841), PMP22(5376), SMPD1(6609), AMN(81693), ABCD3(5825), ZAP70(7535), CD40(958), CD40LG(959), PEX2(5828), ERCC2(2068), SFTPB(6439), ERCC3(2071), TBX21(30009), SFTPD(6441), PRPS1(5631), CIITA(4261), ITGB2(3689), BUB1B(701), NPC2(10577), TREX1(11277), CUBN(8029), SLC46A1(113235), BTK(695), PMM2(5373), NEU1(4758), FMO3(2328), TCIRG1(10312), DNMT3B(1789), TCN2(6948), CD8A(925), AGA(175), CD4(920), CD247(919), DKC1(1736), CD3E(916), CD3G(917), SP110(3431), CYBA(1535), BLM(641), CFI(3426), LBR(3930), RAB27A(5873), ELANE(1991), DOCK8(81704), TNFSF11(8600), AK2(204), INSR(3643), ATM(472), TNFRSF13B(23495), MVK(4598), LMBRD1(55788), MUSK(4593), PAX4(5078), INS(3630), RMRP(6023), DGCR(1714), NCF1(653361), FREM2(341640), CFH(3075), MLPH(79083), NOP10(55505), SMARCAL1(50485), FRAS1(80144), C1QA(712), C1R(715), MMAB(326625), GCK(2645), C2(717), STAT3(6774), TERC(7012), KRT1(3848), TERT(7015), DCLRE1C(64421), NLRP3(114548), C3(718), ROBLD3(28956), FANCA(2175), HLA-DRA(3122), RFXANK(8625), MMACHC(25974), TFAP2A(7020), CFD(1675), AICDA(57379), SERPING1(710), PCCB(5096), C7(730), KRT16(3868), KLHDC8B(200942), C8A(731), CLN3(1201), WAS(7454), C8B(732), ANTXR2(118429), GBA(2629), PNP(4860), C4A(720), CARD9(64170), HLA-A(3105), SLC35A1(10559), KRT9(3857), PVR(5817), PCCA(5095), C5(727)]
IMPAIRED CONVERGENCE(HP:0000619)	[SALL4(57167)]
IMPAIRED FSH AND LH SECRETION(HP:0003295)	[KAL1(3730)]
IMPAIRED GALACTOSE METABOLISM(HP:0004915)	[SLC2A2(6514)]
IMPAIRED GLUCONEOGENESIS(HP:0005959)	[SLC22A5(6584), PCK1(5105), PCK2(5106)]
IMPAIRED HORIZONTAL SMOOTH PURSUIT(HP:0001151)	[ATXN3(4287), ATXN2(6311)]
IMPAIRED IG CLASS SWITCH RECOMBINATION (CSR)(HP:0002959)	[UNG(7374), AICDA(57379)]
IMPAIRED LANGUAGE DEVELOPMENT(HP:0000750)	[NLGN4X(57502), MECP2(4204), MCOLN1(57192)]
IMPAIRED LEFT VENTRICULAR FUNCTION(HP:0005162)	[FKRP(79147)]
IMPAIRED LYMPHOCYTE TRANSFORMATION WITH PHYTOHEMAGGLUTININ(HP:0003347)	[KLHDC8B(200942)]
IMPAIRED OCULAR ABDUCTION(HP:0000634)	[SALL4(57167)]
IMPAIRED OCULAR ADDUCTION(HP:0000542)	[SALL4(57167)]
IMPAIRED PURSUIT INITIATION AND MAINTENANCE(HP:0007668)	[TBP(6908)]
IMPAIRED REABSORPTION OF CHLORIDE(HP:0005579)	[CLCNKB(1188)]
IMPAIRED RENAL FUNCTION(HP:0000087)	[IKBKAP(8518), COL4A6(1288), CLCN5(1184), TMEM216(51259), PRTN3(5657), NIPBL(25836)]
IMPAIRED SACCADES(HP:0000604)	[TMEM216(51259), INPP5E(56623)]
IMPAIRED SMOOTH PURSUIT(HP:0007772)	[ATXN3(4287), MAN2B1(4125), ATXN2(6311)]
IMPAIRED SOCIAL INTERACTIONS(HP:0000735)	[MED12(9968), ACOX1(51), NLGN4X(57502), SLC6A8(6535), FMR1(2332)]
IMPAIRED SPERMATOGENESIS(HP:0008669)	[ATM(472)]
IMPAIRED T CELL FUNCTION(HP:0005435)	[SLC39A4(55630), PNP(4860), TBX1(6899), TNFRSF13B(23495), ICOS(29851)]
IMPAIRED THERMAL SENSITIVITY(HP:0006901)	[HEXB(3074)]
IMPAIRED USE OF NONVERBAL BEHAVIORS, SUCH AS EYE-TO-EYE GAZE, FACIAL EXPRESSION, BODY POSTURE, AND GESTURES(HP:0000758)	[NLGN4X(57502)]
IMPAIRED VIBRATORY SENSE(HP:0002495)	[BSCL2(26580), SAR1B(51128), SLC25A15(10166), NIPA1(123606), SPG11(80208), KIF5A(3798), SACS(26278), SETX(23064), HSPD1(3329), SPG7(6687), CYP7B1(9420), KIAA0196(9897), SPTBN2(6712), SPAST(6683), ATXN3(4287), PRKCG(5582), FXN(2395), ATXN2(6311)]
IMPAIRED VISION(HP:0000505)	[PITPNM3(83394), FBN1(2200), PGK1(5230), TACSTD2(4070), HPS5(11234), MAPT(4137), CLN6(54982), HSD17B4(3295), TGFBI(7045), ATXN7(6314), ABCA1(19), PRPH2(5961), GUCY2D(3000), ADAMTS10(81794), COQ2(27235), ELOVL4(6785), MYO7A(4647), LYST(1130), TMEM216(51259), LRP2(4036), LRP5(4041), PTEN(5728), GJB2(2706), CHM(1121), CACNA1A(773), C20orf7(79133), AP3B1(8546), CACNA1F(778), NPHP4(261734), FH(2271), OCA2(4948), OCRL(4952), INPP5E(56623), FGFR2(2263), POLG(5428), NHLRC1(378884), FGF14(2259), COL18A1(80781), PDSS2(57107), PHF6(84295), GPR143(4935), NDP(4693), IGBP1(3476), NDUFA1(4694), TUBB3(10381), POLA1(5422), COL4A1(1282), PDSS1(23590), COL2A1(1280), OAT(4942), PQBP1(10084), DTNBP1(84062), OPA1(4976), GNAS(2778), RBP4(5950), VPS13B(157680), ABCC6(368), HPS3(84343), TBX1(6899), NDUFA11(126328), NDUFAF4(29078), HPS1(3257), NDUFS1(4719), GM2A(2760), NDUFV1(4723), NDUFS2(4720), TYR(7299), NDUFS6(4726), NDUFS4(4724), ALMS1(7840), PLA2G6(8398), BTD(686), PLOD1(5351), RPGR(6103), PRPS1(5631), PHOX2A(401), NDUFAF2(91942), CTNS(1497), TTR(7276), BLOC1S3(388552), SH3BP2(6452), MITF(4286), CLN8(2055), TREX1(11277), NEU1(4758), TCIRG1(10312), TCOF1(6949), GALC(2581), ASPA(443), LAMB2(3913), MFSD8(256471), NDUFAF3(25915), BCOR(54880), TSC1(7248), CTSD(1509), PLG(5340), RPE65(6121), ZNF469(84627), LAMP2(3920), OPA3(80207), HPS6(79803), ZFYVE26(23503), PAX6(5080), ATP1A2(477), ST3GAL5(8869), FZD4(8322), ATIC(471), CEP290(80184), EIF2B2(8892), RS1(6247), CDH3(1001), EIF2B5(8893), PPT1(5538), CA2(760), DGCR(1714), EIF2B4(8890), AHI1(54806), EIF2B3(8891), HEXA(3073), EIF2B1(1967), EPM2A(7957), ABCD1(215), FREM2(341640), CFH(3075), FRAS1(80144), COQ9(57017), FRMD7(90167), ALG3(10195), BEST1(7439), MFN2(9927), PROM1(8842), SOST(50964), TIMM8A(1678), MMACHC(25974), CLN5(1203), TPP1(1200), CLN3(1201), HPS4(89781), APTX(54840), CABC1(56997)]
IMPOTENCE(HP:0000802)	[LMNB1(4001), HEXB(3074), ABCD1(215), HFE(3077)]
IMPOTENCE DUE TO AUTONOMIC DYSFUNCTION(HP:0008652)	[LMNB1(4001)]
INABILITY TO WALK(HP:0002540)	[TK2(7084), SLC17A5(26503), SLC16A2(6567)]
INABILITY TO WALK BY CHILDHOOD/ADOLESCENCE(HP:0006915)	[TK2(7084), GDAP1(54332)]
INAPPROPRIATE BEHAVIOR(HP:0000719)	[CHMP2B(25978), PSEN1(5663), GRN(2896), TREM2(54209), TYROBP(7305), MAPT(4137)]
INAPPROPRIATE LAUGHTER(HP:0000748)	[PSEN1(5663), ATRX(546), CDKL5(6792), ANCR(282), MAPT(4137), MECP2(4204), UBE3A(7337)]
INAPPROPRIATE SEXUAL BEHAVIOR(HP:0008768)	[PSEN1(5663), MAPT(4137)]
INCOMPLETE MALE PSEUDOHERMAPHRODITISM(HP:0008656)	[LHCGR(3973)]
INCOMPLETE PENETRANCE(HP:0003829)	[ATP1A3(478), LGI1(9211), ATP1A2(477), ATL1(51062), DCX(1641), FLCN(201163), KRIT1(889), FGF23(8074), EYA1(2138), LRRK2(120892), ATXN10(25814), TTN(7273), NME1(4830), FMR1(2332), OPA1(4976), SHH(6469), MFN2(9927), SGCE(8910), DRD2(1813), NF2(4771), GJB1(2705), CACNA1A(773), CRELD1(78987), PRKCG(5582), MNX1(3110), CACNA1S(779)]
INCOMPREHENSIBLE SPEECH(HP:0002546)	[FOXP2(93986), CC2D1A(54862)]
INCOORDINATION(HP:0002311)	[SLC25A15(10166), PRNP(5621), EP300(2033), MKKS(8195), FKRP(79147), BBS5(129880), ATXN8(724066), TRIM32(22954), ARL6(84100), NSD1(64324), GLRB(2743), ANCR(282), CEP290(80184), GLRA1(2741), MECP2(4204), LMBRD1(55788), BBS12(166379), ATXN8OS(6315), GPHN(10243), IKBKAP(8518), ATXN10(25814), MTHFR(4524), CDKL5(6792), CLN8(2055), UBE3A(7337), BBS9(27241), TTC8(123016), NEB(4703), BBS1(582), BBS2(583), BBS4(585), SLC6A8(6535), SPTBN2(6712), C10orf2(56652), CLN5(1203), MKS1(54903), BBS10(79738), BBS7(55212), CREBBP(1387), SLC6A5(9152), MTR(4548)]
INCREASED ADIPOSE TISSUE(HP:0009126)	[LMNA(4000)]
INCREASED ALVEOLAR CELL CARCINOMA(HP:0006757)	[SFTPA2(729238)]
INCREASED ANTERIOPOSTERIOR DIAMETER OF CHEST(HP:0005253)	[ZMPSTE24(10269)]
INCREASED AXIAL GLOBE LENGTH(HP:0007800)	[FBN1(2200)]
INCREASED BETA-LIPOPROTEINS(HP:0003141)	[ABCG8(64241), ABCG5(64240)]
INCREASED BLOOD UREA NITROGEN (BUN)(HP:0003138)	[IKBKAP(8518), ADAMTS13(11093), CFH(3075)]
INCREASED BODY HEIGHT(HP:0000098)	[FBN1(2200), FBN2(2201), PLOD1(5351), RET(5979), TGFBR1(7046), NSD1(64324), FGFR3(2261), CDKN1C(1028), H19(283120), TGFB1(7040), MED12(9968), KCNQ1OT1(10984), COL6A1(1291), COL6A2(1292), COL6A3(1293), COL2A1(1280), CBS(875), MC2R(4158), NEB(4703), BSCL2(26580), GPC3(2719), SOST(50964), PTEN(5728), SLC6A8(6535), AGPAT2(10555), ZNF469(84627), SMS(6611)]
INCREASED BODY WEIGHT(HP:0004324)	[KCNJ11(3767), MKKS(8195), SNRPN(6638), ATRX(546), EHMT1(79813), BBS5(129880), TRIM32(22954), ARL6(84100), TBX3(6926), ANCR(282), INPP5E(56623), CEP290(80184), MECP2(4204), BBS12(166379), PDE11A(50940), CUL4B(8450), SLC7A7(9056), NDN(4692), DGCR(1714), CDKL5(6792), UBE3A(7337), HCRT(3060), BBS9(27241), TTC8(123016), CANT1(124583), GNAS(2778), NR0B2(8431), PPARG(5468), VPS13B(157680), MC4R(4160), PCNT(5116), BBS1(582), BBS2(583), TBX1(6899), BBS4(585), PCSK1(5122), ABCC8(6833), VSX1(30813), BBS10(79738), MKS1(54903), PRKAR1A(5573), BBS7(55212), ALMS1(7840), FST(10468), ALDH5A1(7915), SIM1(6492), RAB23(51715)]
INCREASED CARRYING ANGLE(HP:0003102)	[SHOX(6473)]
INCREASED CELLULAR SENSITIVITY TO UV LIGHT(HP:0003224)	[ERCC3(2071), ERCC8(1161), ERCC6(2074)]
INCREASED CONNECTIVE TISSUE(HP:0009025)	[TCAP(8557), ANO5(203859), LAMA2(3908)]
INCREASED CORNEAL DIAMETER(HP:0007660)	[GNPTAB(79158)]
INCREASED CORTISOL PRODUCTION(HP:0004316)	[RET(5979), PDE11A(50940), GNAS(2778), PRKAR1A(5573), MEN1(4221)]
INCREASED CREATINE KINASE(HP:0003078)	[FKRP(79147), MYOT(9499), LMNA(4000), LARGE(9215), MVK(4598), POLG(5428), PYGM(5837), GNE(10020), POMT1(10585), CNBP(7555), VPS13A(23230), PHKA1(5255), DYSF(8291), CAV3(859), LAMA2(3908), C10orf2(56652), FKTN(2218), DOK7(285489), SIL1(64374), GAA(2548), AGRN(375790), DMGDH(29958), CPT2(1376), DMD(1756), POMT2(29954)]
INCREASED CREATININE(HP:0003259)	[INVS(27130), ADAMTS13(11093), CFH(3075)]
INCREASED CSF INTERFERON ALPHA(HP:0009709)	[TREX1(11277)]
INCREASED CSF LACTATE(HP:0002490)	[NDUFS7(374291), PDHA1(5160), SDHA(6389), BCS1L(617), NDUFAF2(91942), COX15(1355), NDUFA1(4694), NDUFA2(4695), C8orf38(137682), LRPPRC(10128), NDUFAF3(25915), COX6B1(1340), NDUFA11(126328), NDUFAF4(29078), DLD(1738), NDUFS1(4719), SURF1(6834), NDUFS3(4722), SCO2(9997), NDUFV1(4723), NDUFS2(4720), NDUFS6(4726), C20orf7(79133), NDUFS4(4724), FASTKD2(22868), NDUFS8(4728)]
INCREASED CSF PROTEIN(HP:0002922)	[GALC(2581), ARSA(410), POLG(5428), SUMF1(285362), PRX(57716), PSAP(5660), NDUFV1(4723), EGR2(1959), TTR(7276), MPZ(4359), SLC12A6(9990), PMP22(5376), GFAP(2670)]
INCREASED DENSITY OF LONG BONE DIAPHYSES(HP:0006440)	[FLNA(2316)]
INCREASED DENSITY OF LONG BONES(HP:0006392)	[FLNA(2316)]
INCREASED FREQUENCY OF BACTERIAL, VIRAL, AND FUNGAL INFECTIONS(HP:0005350)	[RAG2(5897), DCLRE1C(64421), RAG1(5896)]
INCREASED HEMATOCRIT(HP:0001899)	[JAK2(3717), EGLN1(54583), VHL(7428)]
INCREASED HEMOGLOBIN(HP:0001900)	[JAK2(3717), EGLN1(54583), VHL(7428)]
INCREASED HEMOLYSIS(HP:0005503)	[GSS(2937)]
INCREASED HEPATOCELLULAR CARCINOMA RISK(HP:0006750)	[SERPINA1(5265)]
INCREASED IGA LEVEL(HP:0003261)	[WAS(7454), FAS(355), CASP10(843), MVK(4598)]
INCREASED IGE LEVEL(HP:0003212)	[ADA(100), KRT16(3868), WAS(7454), SPINK5(11005), KRT1(3848), KRT9(3857)]
INCREASED IGG LEVEL(HP:0003237)	[FAS(355), CASP10(843)]
INCREASED IGM LEVEL(HP:0003496)	[CD40(958), CD40LG(959), KLHDC8B(200942), SH2D1A(4068), FAS(355), CASP10(843)]
INCREASED IMMUNOGLOBULIN LEVEL(HP:0010702)	[CD40(958), ADA(100), CD40LG(959), SPINK5(11005), SH2D1A(4068), SFTPA2(729238), KRT1(3848), SETX(23064), MVK(4598), KLHDC8B(200942), KRT16(3868), ELANE(1991), WAS(7454), FAS(355), CASP10(843), KRT9(3857)]
INCREASED INCIDENCE OF HEPATOCELLULAR CARCINOMA(HP:0003007)	[HMBS(3145), UROD(7389)]
INCREASED INTRAABDOMINAL FAT(HP:0008993)	[LMNA(4000)]
INCREASED INTRACELLULAR SODIUM(HP:0003575)	[STOM(2040)]
INCREASED INTRACRANIAL PRESSURE(HP:0002516)	[TWIST1(7291), SOST(50964), FGFR2(2263)]
INCREASED INTRAMUSCULAR FAT(HP:0008985)	[LMNA(4000)]
INCREASED INTRAOCULAR PRESSURE(HP:0007906)	[CYP1B1(1545)]
INCREASED LAXITY OF ANKLES(HP:0006460)	[COL6A1(1291), COL6A2(1292), COL6A3(1293)]
INCREASED LAXITY OF FINGERS(HP:0006149)	[COL6A1(1291), COL6A2(1292), COL6A3(1293)]
INCREASED LDL CHOLESTEROL(HP:0008343)	[APOB(338), SMPD1(6609)]
INCREASED LENGTH OF THE HALLUX(HP:0001847)	[NPR2(4882), GNE(10020)]
INCREASED LINEAR GROWTH(HP:0003515)	[BSCL2(26580), AGPAT2(10555)]
INCREASED LIVER FUNCTION TESTS(HP:0003156)	[POLG(5428), CPT2(1376), DPM1(8813)]
INCREASED LIVER GLYCOGEN CONTENT(HP:0006568)	[PYGL(5836)]
INCREASED MEGAKARYOCYTE PRECURSOR CELLS(HP:0005513)	[JAK2(3717)]
INCREASED MUSCLE GLYCOGEN CONTENT(HP:0009051)	[PFKM(5213)]
INCREASED NUMBER OF B CELLS(HP:0005404)	[CASP10(843)]
INCREASED NUMBER OF CD4-/CD8- T CELLS EXPRESSING ALPHA/BETA T-CELL RECEPTORS(HP:0002851)	[FAS(355), CASP10(843)]
INCREASED NUMBER OF PERIPHERAL CD3+ T CELLS(HP:0002845)	[FAS(355), CASP10(843)]
INCREASED PHOSPHORIBOSYLPYROPHOSPHATE (PRPP) SYNTHETASE(HP:0003240)	[PRPS1(5631), PRPS2(5634)]
INCREASED PLASMA ALDOSTERONE(HP:0000859)	[BSND(7809), SLC12A1(6557), CLCNKB(1188), KCNJ1(3758), SLC26A3(1811), CYP11B1(1584)]
INCREASED PLASMA RENIN(HP:0000848)	[SLC12A3(6559), SLC12A1(6557), CLCNKB(1188), KCNJ1(3758)]
INCREASED PLASMA VLDL(HP:0003362)	[LCAT(3931), UBR1(197131)]
INCREASED PREVALENCE OF VALVULAR DISEASE(HP:0001726)	[PKD2(5311), PKD1(5310)]
INCREASED PROPORTION OF HLA DR+ AND CD57+ T CELLS(HP:0002853)	[FAS(355), CASP10(843)]
INCREASED PULMONARY VASCULAR RESISTANCE(HP:0005317)	[SMAD9(4093), BMPR2(659)]
INCREASED PURINE LEVELS(HP:0004368)	[HPRT1(3251), PPARG(5468), SLC37A4(2542), UOX(391051), TNFRSF11B(4982), G6PC(2538), ALDOB(229), PRPS1(5631), PRPS2(5634), PPP1R3A(5506), PFKM(5213), CLDN16(10686), HNF1B(6928), ALMS1(7840), SLC17A3(10786), UMOD(7369)]
INCREASED RED BLOOD CELL MASS(HP:0001898)	[JAK2(3717), EGLN1(54583), VHL(7428)]
INCREASED RED CELL OSMOTIC FRAGILITY(HP:0005502)	[PKLR(5313), STOM(2040), RHAG(6005), SLC4A1(6521)]
INCREASED RED CELL OSMOTIC RESISTANCE(HP:0005546)	[SLC4A4(8671)]
INCREASED RED CELL SICKLING TENDENCY(HP:0008346)	[HBB(3043)]
INCREASED RENAL TUBULAR PHOSPHATE REABSORPTION(HP:0005571)	[KL(9365), GALNT3(2591), FGF23(8074)]
INCREASED RESPIRATORY RATE OR DEPTH OF BREATHING(HP:0004346)	[BTD(686), SUCLG1(8802), FBP1(2203), TMEM216(51259), OXCT1(5019), ACADVL(37), INPP5E(56623), MECP2(4204), CEP290(80184), PCCB(5096), IGHMBP2(3508), AHI1(54806), HLCS(3141), CASR(846), PCCA(5095)]
INCREASED RISK FOR MULTIPLE MYELOMA(HP:0006775)	[GBA(2629)]
INCREASED RISK OF CHONDROSARCOMA(HP:0006765)	[EXT2(2132), EXT1(2131)]
INCREASED RISK OF LEUKEMIA(HP:0006726)	[EP300(2033), CREBBP(1387)]
INCREASED RISK OF MALIGNANCY(HP:0006741)	[EXT2(2132), RMRP(6023), ERCC3(2071), EXT1(2131)]
INCREASED RISK OF PANCREATIC CANCER(HP:0004511)	[SPINK1(6690)]
INCREASED RISK OF SEIZURES IN CHILDHOOD OR ADULTHOOD (11-16%)(HP:0002479)	[KCNQ2(3785), KCNQ3(3786)]
INCREASED RISK OF SPONTANEOUS ABORTION(HP:0005268)	[MGP(4256)]
INCREASED SERUM 1,25-DIHYDROXYVITAMIN D3(HP:0003152)	[SLC34A3(142680), VDR(7421)]
INCREASED SERUM BETA-HEXOSAMINIDASE(HP:0008299)	[GNPTG(84572), GNPTAB(79158)]
INCREASED SERUM BETA-HEXOSAMINIDASE (10-20X)(HP:0003333)	[GNPTG(84572), GNPTAB(79158)]
INCREASED SERUM CORTISOL(HP:0003118)	[PDE11A(50940), PRKAR1A(5573)]
INCREASED SERUM CREATINE KINASE(HP:0002147)	[VCP(7415), CPT1A(1374), FKRP(79147), MYOT(9499), LARGE(9215), TRIM32(22954), PGAM2(5224), SETX(23064), B4GALT1(2683), SGCA(6442), CAPN3(825), SGCG(6445), FLNC(2318), TSFM(10102), DPM1(8813), SLC16A1(6566), PDSS2(57107), CRYAB(1410), IKBKAP(8518), MYH7(4625), HNF1B(6928), COQ2(27235), PDSS1(23590), ENO3(2027), POMT1(10585), TK2(7084), COQ9(57017), POMGNT1(55624), PHKA1(5255), ACADVL(37), DYSF(8291), EMD(2010), CAV3(859), KCNA1(3736), VMA21(203547), FKTN(2218), AGL(178), APTX(54840), LAMP2(3920), TCAP(8557), AR(367), CABC1(56997), LDB3(11155)]
INCREASED SERUM CREATININE(HP:0003227)	[IKBKAP(8518), HNF1B(6928)]
INCREASED SERUM FERRITIN(HP:0003281)	[CP(1356), SLC7A7(9056), PUS1(80324), HFE(3077), FTL(2512)]
INCREASED SERUM IRON(HP:0003452)	[HFE(3077)]
INCREASED SERUM LACTATE(HP:0002151)	[NDUFS7(374291), PDHA1(5160), SDHA(6389), BCS1L(617), POLG(5428), TSFM(10102), SLC7A7(9056), COX15(1355), NDUFA2(4695), UQCRQ(27089), GYS2(2998), C8orf38(137682), UQCRB(7381), LRPPRC(10128), COX6B1(1340), MRPS22(56945), DLD(1738), SURF1(6834), PNPO(55163), C10orf2(56652), NDUFS3(4722), SCO2(9997), NDUFV1(4723), GFM1(85476), OGDH(4967), FASTKD2(22868), NDUFS4(4724), PUS1(80324), NDUFS8(4728), MRPS16(51021), PC(5091), SDHAF1(644096)]
INCREASED SERUM PROSTAGLANDIN E(HP:0003566)	[SLC12A1(6557), KCNJ1(3758)]
INCREASED SERUM PYRUVATE(HP:0003542)	[PDHX(8050), PC(5091)]
INCREASED SERUM RENIN(HP:0003615)	[CYP11B2(1585)]
INCREASED SERUM SEROTONIN(HP:0003144)	[NLGN4X(57502)]
INCREASED SERUM THYROID-STIMULATING HORMONE (TSH)(HP:0002925)	[SMARCAL1(50485), NKX2-1(7080), TSHR(7253), DCAF17(80067), PAX8(7849)]
INCREASED SERUM TRIGLYCERIDES(HP:0003082)	[PPP1R3A(5506), LCAT(3931), PPARG(5468), LMNA(4000), PHKA2(5256)]
INCREASED SKIN PIGMENTATION(HP:0007527)	[APC(324), CYP11B1(1584)]
INCREASED SKULL OSSIFICATION(HP:0004330)	[TNFSF11(8600), SGSH(6448), CA2(760), GNAS(2778), HGSNAT(138050), ALMS1(7840), SOST(50964), PTEN(5728), NAGLU(4669)]
INCREASED SUSCEPTIBILITY TO CERTAIN BACTERIAL INFECTIONS(HP:0005391)	[CFH(3075)]
INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659)	[SCN9A(6335), VDR(7421), PLOD2(5352), PPIB(5479), ANO5(203859), GNPTAB(79158), TCIRG1(10312), SC5DL(6309), CHRNA1(1134), AGA(175), CRTAP(10491), LRP5(4041), GK(2710), UROS(7390), LBR(3930), CHRNG(1146), CHRND(1144), AGXT(189), COL1A2(1278), COL1A1(1277), PTH1R(5745), TNFRSF11A(8792), TNFSF11(8600), SQSTM1(8878), FGFR1(2260), FZD4(8322), OCRL(4952), NGF(4803), CYP2R1(120227), CYP27B1(1594), CYP27A1(1593), FAM20C(56975), TREM2(54209), SLC4A1(6521), CLCN7(1186), GNAS(2778), CLCN5(1184), STAT3(6774), TIMM8A(1678), LIFR(3977), RUNX2(860), WNK1(65125), GORAB(92344), GBA(2629), ALPL(249), SLC34A3(142680), TYROBP(7305), SMS(6611), CASR(846), LEPRE1(64175)]
INCREASED SUSCEPTIBILITY TO HAEMOPHILUS INFLUENZAE INFECTIONS(HP:0005376)	[CFI(3426)]
INCREASED SUSCEPTIBILITY TO STREPTOCOCCUS PNEUMONIAE INFECTIONS(HP:0005366)	[CFI(3426)]
INCREASED TOTAL BILIRUBIN(HP:0003573)	[PFKM(5213), PRKCSH(5589), SLC25A13(10165), SEC63(11231), CPT2(1376)]
INCREASED TOTAL BILIRUBIN MAY OCCUR(HP:0008168)	[PRKCSH(5589), SEC63(11231)]
INCREASED UPPER TO LOWER SEGMENT RATIO(HP:0008904)	[FGD1(2245)]
INCREASED URINARY CHLORIDE(HP:0002914)	[BSND(7809), SLC12A1(6557), CLCNKB(1188), KCNJ1(3758)]
INCREASED URINARY EPINEPHRINE(HP:0003639)	[RET(5979)]
INCREASED URINARY O-LINKED SIALOPEPTIDES(HP:0003461)	[NAGA(4668)]
INCREASED URINARY POTASSIUM(HP:0003081)	[BSND(7809), SLC12A1(6557), CLCNKB(1188), KCNJ1(3758)]
INCREASED URINARY SODIUM(HP:0003608)	[BSND(7809), CLCNKB(1188), AVPR2(554)]
INCREASED URINARY SULFITE, THIOSULFATE, S-SULFOCYSTEINE, TAURINE, HYPOXANTHINE, AND XANTHINE(HP:0003166)	[GPHN(10243), MOCS2(4338), MOCS1(4337)]
INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557)	[COL6A1(1291), RYR1(6261), SEPN1(57190), COL6A2(1292), TRIM32(22954), COL6A3(1293), DYSF(8291), TCAP(8557), POLG(5428), C10orf2(56652)]
INCREASED VERTEBRAL HEIGHT(HP:0004570)	[MAN2B1(4125)]
INEFFECTIVE ERYTHROPOIESIS(HP:0005553)	[CDAN1(146059), SEC23B(10483)]
INFANTILE ENCEPHALOPATHY(HP:0007105)	[D2HGDH(728294), TSEN54(283989), GCDH(2639)]
INFANTILE MUSCULAR HYPOTONIA(HP:0008947)	[COL5A2(1290), TRPS1(7227), COL5A1(1289), ATRX(546), GAMT(2593), FGFR3(2261), MECP2(4204), SUOX(6821), COL1A1(1277), HSD17B10(3028)]
INFANTILE SEIZURES(HP:0002391)	[ERCC6(2074), TSC1(7248), TSC2(7249)]
INFANTILE SENSORINEURAL HEARING LOSS(HP:0008610)	[TIMM8A(1678)]
INFERTILITY(HP:0000789)	[PTPN11(5781), GOPC(57120), LHB(3972), CFTR(1080), SPATA16(83893), DNAI1(27019), AURKC(6795), HSD17B3(3293), AR(367), CTNS(1497)]
INFLAMMATORY BOWEL DISEASE(HP:0002037)	[RET(5979), WAS(7454), BLOC1S3(388552), L1CAM(3897), HPS3(84343), HPS4(89781), PHOX2B(8929), HPS5(11234), HPS1(3257), HPS6(79803), DTNBP1(84062), GDNF(2668)]
INFLAMMATORY SKIN DISEASE(HP:0007423)	[PI3(5266)]
INFLEXIBLE ADHERENCE TO ROUTINES OR RITUALS(HP:0000732)	[NLGN4X(57502)]
INFREQUENT GENERALIZED SEIZURES(HP:0007114)	[SCARB2(950)]
INGUINAL HERNIA(HP:0000023)	[FBN1(2200), ARSB(411), PLOD1(5351), GUSB(2990), EFEMP2(30008), RPS6KA3(6197), MYH3(4621), GLRB(2743), TBX3(6926), NSD1(64324), GLRA1(2741), STRA6(64220), PLOD2(5352), GLI3(2737), IDS(3423), GNE(10020), NEU1(4758), GNPTAB(79158), AMH(268), GLB1(2720), AMHR2(269), GPC3(2719), ELN(2006), GALNS(2588), ROR2(4920), CHRNG(1146), MBTPS2(51360), COL1A2(1278), SLC6A5(9152), COL1A1(1277), MAN2B1(4125), ADAMTS2(9509), HSPG2(3339), FGFR1(2260), LOX(4015), COL5A2(1290), MED12(9968), SLC26A2(1836), GPHN(10243), COL5A1(1289), DGCR(1714), FBLN5(10516), FGD1(2245), COL2A1(1280), COL3A1(1281), CBS(875), UBA1(7317), TBX1(6899), PORCN(64840), NIPBL(25836), OFD1(8481), ATP6V0A2(23545), AR(367), LEPRE1(64175)]
INHERITANCE(HP:0000005)	[HIBCH(26275), A2M(2), TINF2(26277), TRIM24(8805), SACS(26278), NAT1(9), DPM1(8813), TRPM6(140803), ABCA1(19), ABAT(18), ABCB7(22), ABL1(25), ABCA4(24), ACADM(34), ACADS(35), ACADL(33), ACAT1(38), ACADSB(36), ACADVL(37), B3GALTL(145173), ACOX1(51), MPO(4353), MPL(4352), MPZ(4359), MPV17(4358), ACP2(53), TNFRSF10B(8795), ACTA1(58), TNFRSF11A(8792), ACTB(60), UPF3B(65109), ACTG1(71), FAM83H(286077), HSPB8(26353), ACY1(95), ACVRL1(94), ACVR1(90), ADAR(103), ADA(100), MSH2(4436), CCM2(83605), NDUFA11(126328), WNK1(65125), TUBB2B(347733), ABCA12(26154), PHOX2B(8929), MTM1(4534), C7orf11(136647), MTHFR(4524), TMEM67(91147), ADSL(158), MFRP(83552), PRPF31(26121), MFSD8(256471), AGA(175), AFP(174), SGCE(8910), MTMR2(8898), MSX2(4488), AGTR1(185), NR0B1(190), MIPOL1(145282), AHCY(191), AGXT(189), AGL(178), ACAN(176), KIAA1279(26128), JAG1(182), AGT(183), MSX1(4487), AK2(204), MYBPC3(4607), AKT1(207), SQSTM1(8878), AK1(203), MYB(4602), ST3GAL5(8869), MVK(4598), MUSK(4593), MUTYH(4595), MUT(4594), EIF2B2(8892), EIF2B5(8893), TRIM37(4591), ALDH1A1(216), ALDH2(217), EIF2B4(8890), EIF2B3(8891), ALAS2(212), ABCD1(215), AKT2(208), PHGDH(26227), ALAD(210), PCDH15(65217), PROM1(8842), WISP3(8838), ALDOB(229), ALDOA(226), GMPS(8833), WNK4(65266), ALDH3A2(224), MTRR(4552), ALPL(249), MTR(4548), ALOX12B(242), MTTP(4547), AMT(275), BIN1(274), MAOB(4129), MAOA(4128), CLDN1(9076), ANCR(282), MAPT(4137), ANK2(287), MAT1A(4143), ANK1(286), AMBP(259), SLC4A11(83959), SLC7A7(9056), ALX3(257), MATN3(4148), PAPSS2(9060), AMELY(266), AMELX(265), AMPD1(270), MC2R(4158), AIP(9049), PSTPIP1(9051), C10orf2(56652), SLC25A4(291), SLC17A5(26503), CNNM4(26504), MAN2B1(4125), MANBA(4126), APOB(338), APOA4(337), APOA2(336), APP(351), INPP5E(56623), MECP2(4204), APOE(348), APOC2(344), AIRE(326), APC(324), MEFV(4210), APOA1(335), MEN1(4221), BSCL2(26580), CHST6(4166), ARAF(369), ABCC6(368), ARG1(383), MCM6(4175), MCF2(4168), MCL1(4170), AQP2(359), APRT(353), FAS(355), AR(367), ARSA(410), LGI1(9211), ARSB(411), ARSE(415), LARGE(9215), STS(412), MGP(4256), PHOX2A(401), CIITA(4261), MID1(4281), ATXN3(4287), MITF(4286), ASNS(440), MET(4233), ASPA(443), OSMR(9180), ASS1(445), ASL(435), ASAH1(427), AMLCR2(9163), KITLG(4254), SLC6A5(9152), MGAT2(4247), ATP1A3(478), CTDP1(9150), ATP1A2(477), MN1(4330), ATM(472), ATIC(471), MMP13(4322), MPI(4351), SERPINC1(462), KCNQ4(9132), PRPF3(9129), MOS(4342), MOCS2(4338), MOCS1(4337), MLLT3(4300), FOXO4(4303), MLL(4297), MLLT1(4298), AFF1(4299), MLH1(4292), ALDH7A1(501), MLF1(4291), ANTXR2(118429), MMP2(4313), ATP2A2(488), TBX19(9095), FXYD2(486), AVP(551), AUH(549), NPR2(4882), ATRX(546), PROK2(60675), ATR(545), NRAS(4893), AVPR2(554), SLC11A2(4891), MCCC1(56922), B2M(567), NPM1(4869), NPHS1(4868), NPHP1(4867), SLC10A3(8273), NPC1(4864), USP9Y(8287), NPPA(4878), KDM5D(8284), COLQ(8292), EPX(8288), NTRK1(4914), DYSF(8291), MRPS22(56945), ATP6V1B1(525), PICALM(8301), ROR2(4920), DDR2(4921), GTF2H5(404672), RAB3GAP2(25782), ATP7B(540), AXIN1(8312), ATP7A(538), MKKS(8195), OPN1SW(611), FBXO7(25793), OCA2(4948), BCR(613), GDF5(8200), OCRL(4952), BCS1L(617), ATXN10(25814), GPR143(4935), OAT(4942), OPA1(4976), BBS1(582), TNFRSF11B(4982), BBS2(583), OPHN1(4983), BBS4(585), NIPBL(25836), SIX6(4990), BCHE(590), BCKDHA(593), CCND1(595), BCKDHB(594), KDM5C(8242), BCL2(596), OGDH(4967), OGG1(4968), BTD(686), PLA2G6(8398), OXCT1(5019), TMPRSS3(64699), EFEMP2(30008), TBX21(30009), BRCA2(675), OTC(5009), BRAF(673), BUB1B(701), SLC22A18(5002), SLC46A1(113235), BTK(695), PAH(5053), BMP4(652), SERPINE1(5054), BLM(641), PSAT1(29968), BFSP2(8419), FOXL2(668), BPGM(669), P4HB(5034), GNPAT(8443), RAD54L(8438), DMGDH(29958), BMPR1A(657), BMPR1B(658), POMT2(29954), BMPR2(659), PAX7(5081), PAX6(5080), PBX1(5087), FZD4(8322), PAX4(5078), PAX3(5077), PAX2(5076), CA4(762), CA2(760), PARK2(5071), RAX(30062), PAPPA(5069), FAM20C(56975), PAK3(5063), C1QA(712), C1R(715), COQ9(57017), C2(717), PCNT(5116), C3(718), PCK1(5105), CHST14(113189), PCK2(5106), PCM1(5108), SERPING1(710), PCCB(5096), C6(729), C7(730), C8A(731), C8B(732), C4A(720), PC(5091), PCBD1(5092), CABC1(56997), PCCA(5095), PITPNM3(83394), MYCN(4613), P2RY12(64805), SLURP1(57152), NELF(26012), SALL4(57167), MYH3(4621), AGPS(8540), GJC2(57165), CAPN3(825), MYF6(4618), MYH11(4629), IKBKG(8517), IKBKAP(8518), MYH7(4625), MYH8(4626), MYH9(4627), MYO7A(4647), MYO5B(4645), YARS(8565), SLC25A20(788), SEPN1(57190), MYO5A(4644), MYOC(4653), S100G(795), MCOLN1(57192), LMF1(64788), CACNA1A(773), AP3B1(8546), CACNB2(783), NAGA(4668), NAGLU(4669), TCAP(8557), ICOS(29851), CACNA1F(778), CACNA1S(779), KRIT1(889), NYX(60506), EVC2(132884), ALG6(29929), NBN(4683), NCF2(4688), PDSS2(57107), SERPINA6(866), CUL4B(8450), NDN(4692), NDP(4693), NDUFA1(4694), NDUFA2(4695), FOXN1(8456), CBS(875), NEB(4703), ALX4(60529), CAV3(859), PORCN(64840), PEX3(8504), NDUFS1(4719), RUNX1(861), RUNX2(860), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), OFD1(8481), NDUFS6(4726), NDUFS4(4724), UBIAD1(29914), CASP10(843), NDUFS8(4728), CASP8(841), CASR(846), CAT(847), PRSS12(8492), PPM1D(8493), CD40(958), CD40LG(959), SLC4A4(8671), NEFL(4747), CD36(948), SCARB2(950), NDUFAF2(91942), ALDH4A1(8659), NF1(4763), ABCB11(8647), NEU1(4758), PTCH2(8643), CD8A(925), NDUFAF3(25915), CD4(920), CD247(919), CD3E(916), CD3G(917), NF2(4771), JPH3(57338), STX16(8675), TNFSF11(8600), NHS(4810), CDK4(1019), NGF(4803), CDH3(1001), PINK1(65018), NME1(4830), CDH1(999), CHMP2B(25978), CDK11B(984), TP63(8626), RFXANK(8625), NODAL(4838), MMACHC(25974), PDE8B(8622), PNP(4860), PNKD(25953), NOTCH3(4854), FKRP(79147), CHAT(1103), PPOX(5498), MCCC2(64087), DNAJC19(131118), SLC35C1(55343), CDH23(64072), CTSA(5476), PPIB(5479), MATR3(9782), UBR1(197131), GNPTAB(79158), CHRNA1(1134), TMC1(117531), PPARG(5468), NOD2(64127), LYST(1130), SART3(9733), CHML(1122), POU3F4(5456), CHM(1121), C20orf7(79133), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), PON1(5444), CHRNB1(1140), CHRNA4(1137), CDR1(1038), ZEB2(9839), CDKN1B(1027), BBS12(166379), CDKN1C(1028), POLG(5428), CDKN2A(1029), CEACAM5(1048), CEBPA(1050), CEBPE(1053), CECR(1055), POLA1(5422), PNMT(5409), CDSN(1041), CES1(1066), PNLIP(5406), SFTPA2(729238), PMS2(5395), CFTR(1080), RB1CC1(9821), CUL7(9820), CTSC(1075), PMP22(5376), PRNP(5621), ROBO3(64221), PRPS1(5631), STRA6(64220), KIAA0196(9897), PRODH(5625), PROC(5624), PROS1(5627), TRIM33(51592), PROP1(5626), MAP2K1(5604), MAP2K2(5605), MAPK10(5602), ABCC2(1244), PRKCSH(5589), ABCG8(64241), ABCG5(64240), CNGA3(1261), FGD4(121512), PRKAR1A(5573), PRKCG(5582), COL1A2(1278), COL1A1(1277), PRKCA(5578), ERCC8(1161), MED12(9968), PPT1(5538), NCF1(653361), PRCC(5546), CLCN1(1180), NOP10(55505), CLCN7(1186), PPP2R2B(5521), FRMD7(90167), CLCN5(1184), MFN2(9927), SUFU(51684), CLCNKB(1188), PPP1R3A(5506), CLN5(1203), TPP1(1200), CLN3(1201), DLEC1(9940), CARD9(64170), GOLGA5(9950), PPP2R1B(5519), LEPRE1(64175), CPT1A(1374), PGK1(5230), CPS1(1373), CPOX(1371), PGD(5226), CPN1(1369), PGAM2(5224), NSD1(64324), LMBR1(64327), GLRX5(51218), FERMT1(55612), ESCO2(157570), CP(1356), PHB(5245), COX15(1355), PGR(5241), KIF21A(55605), GNE(10020), HCN4(10021), CFP(5199), CRX(1406), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), NT5C3(51251), CRH(1392), PEPD(5184), NR2E3(10002), PFKM(5213), SCO2(9997), KCNE2(9992), CREBBP(1387), SIL1(64374), ATP8B1(5205), SLC12A6(9990), PFKFB1(5207), CPT2(1376), PDHA1(5160), COMP(1311), ENPP1(5167), COL17A1(1308), COL9A3(1299), PDGFB(5155), COL9A2(1298), COL9A1(1297), NHP2(55651), COL8A2(1296), PDGFRB(5159), COL11A2(1302), PDE6B(5158), TSFM(10102), PDGFRL(5157), COL11A1(1301), PDGFRA(5156), COL5A2(1290), COL6A1(1291), COL5A1(1289), COL7A1(1294), COL6A2(1292), COL6A3(1293), GPC6(10082), COL4A1(1282), USH1C(10083), COL2A1(1280), COL3A1(1281), COL4A4(1286), COL4A5(1287), SLC26A4(5172), PEX26(55670), PQBP1(10084), COL4A3(1285), POMGNT1(55624), VPS13B(157680), COX6B1(1340), SLC39A4(55630), SPG21(51324), PCSK1(5122), FLVCR2(55640), MAP3K8(1326), COMT(1312), CHD7(55636), SLC25A15(10166), PLOD1(5351), SLC25A13(10165), CTH(1491), SERPINF2(5345), LPAR6(10161), PLP1(5354), CTNNB1(1499), PLOD2(5352), CTNS(1497), IYD(389434), CSTB(1476), ATP6AP2(10159), PMM2(5373), AASS(10157), NKX2-5(1482), OPTN(10133), PKP2(5318), LRPPRC(10128), PKLR(5313), PKHD1(5314), PLAG1(5324), PLAT(5327), VKORC1(79001), CYBA(1535), CYB5A(1528), PLA2G2A(5320), CTSD(1509), ENAM(10117), ARX(170302), MBTPS2(51360), CRELD1(78987), PLG(5340), CTSK(1513), POMP(51371), PLEC(5339), MBD5(55777), CD96(10225), PIK3CA(5290), LMBRD1(55788), PRKAG2(51422), CRYBA1(1411), CRYAB(1410), PITX1(5307), PRG4(10216), PKD2(5311), PKD1(5310), CRYGD(1421), MLPH(79083), PITX3(5309), PITX2(5308), HR(55806), ALG3(10195), PHEX(5251), VCAN(1462), PHKA1(5255), DCLRE1C(64421), PHKA2(5256), PHKB(5257), CDK5RAP2(55755), MCFD2(90411), CST3(1471), CSF3R(1441), SERPINA1(5265), PHYH(5264), PI3(5266), DDB1(1642), SH3TC2(79628), DDB2(1643), RET(5979), CENPJ(55835), DCX(1641), MMAA(166785), DDC(1644), VAPB(9217), DCK(1633), DCTN1(1639), ACE(1636), REN(5972), RENBP(5973), DCR(1637), RDX(5962), NOG(9241), PRPH2(5961), LRRK2(120892), GCM2(9247), REG1A(5967), CRLF1(9244), RCVRN(5957), OPN1LW(5956), GRK1(6011), DYNC2H1(79659), RHAG(6005), MCPH1(79648), MARVELD2(153562), RFX5(5993), RFXAP(5994), DBT(1629), DCC(1630), DAZ1(1617), DBH(1621), DBI(1622), NPHP4(261734), NDUFS7(374291), CYP11A1(1583), RARA(5914), RAPSN(5913), CYP4V2(285440), GPR56(9289), CYP27B1(1594), RAG2(5897), CYP27A1(1593), UROC1(131669), RAG1(5896), CYP21A2(1589), CYP19A1(1588), CYP17A1(1586), CYP11B2(1585), CYP11B1(1584), CYP2A6(1548), RBP4(5950), CYP1A2(1544), CYP1B1(1545), TRIP11(9321), CYLD(1540), CYP1A1(1543), NDUFAF4(29078), CYBB(1536), CYP2D6(1565), BBS10(79738), SNAP29(9342), FAM123B(139285), DOK7(285489), TGM5(9333), RB1(5925), CYP2C19(1557), CYP2C9(1559), SLC25A22(79751), DMPK(1760), RPGR(6103), RP2(6102), RP1(6101), RP9(6100), KL(9365), DNM2(1785), ROM1(6094), DNMT3B(1789), DIAPH1(1729), OTOF(9381), DIO1(1733), GRHPR(9380), ZFHX4(79776), DLAT(1737), DKC1(1736), DLD(1738), CFC1(55997), MYH14(79784), DLX3(1747), RPE65(6121), RECQL4(9401), DMD(1756), HPS6(79803), DMP1(1758), EHMT1(79813), FLCN(201163), ACAD9(28976), CYP7B1(9420), DHCR24(1718), RMRP(6023), DHFR(1719), DGUOK(1716), DHCR7(1717), DGCR(1714), OSTM1(28962), RLBP1(6017), CYB5R3(1727), ITM2B(9445), ALG1(56052), DECR1(1666), ROBLD3(28956), TIMM8A(1678), EIF2AK3(9451), DES(1674), DFNA5(1687), RNF6(6049), ARHGEF6(9459), CHST3(9469), TBX4(9496), CLDN19(149461), MYOT(9499), BBS5(129880), EDNRA(1909), EDNRB(1910), EDA(1896), PTCH1(5727), TYMP(1890), ECM1(1893), WWOX(51741), PTGS1(5742), PTH(5741), PTGIS(5740), PTEN(5728), UPB1(51733), LITAF(9516), RAB23(51715), PTH1R(5745), DYT3(1863), TOR1A(1861), ADAMTS2(9509), PRSS1(5644), MINPP1(9562), PRPS2(5634), PSAP(5660), SLC26A2(1836), PSEN1(5663), HBEGF(1839), DSP(1832), PRTN3(5657), DSPP(1834), DSG1(1828), DSG2(1829), DSC2(1824), RELN(5649), TMPRSS15(5651), ANKH(56172), ATN1(1822), PSG1(5669), DRD2(1813), SLC26A3(1811), PSEN2(5664), DPYD(1806), DPYS(1807), DPEP1(1800), DPAGT1(1798), PEX19(5824), EP300(2033), PEX2(5828), EPB42(2038), KLK4(9622), PEX5(5830), STOM(2040), PYGL(5836), PYGM(5837), ENG(2022), ENO3(2027), RSPO4(343637), SLC36A2(153201), ELK1(2002), ELN(2006), QDPR(5860), EMD(2010), IQCB1(9657), RAB27A(5873), ARHGEF10(9639), ELANE(1991), MRAP(56246), CDC73(79577), PTPN11(5781), EGFR(1956), EGR2(1959), EIF2B1(1967), ADAMTSL2(9719), NLRP3(114548), PTS(5805), EFNB1(1947), SUMF1(285362), SEMA3E(9723), KLHDC8B(200942), PVRL1(5818), PVR(5817), FBN1(2200), ADAMTSL4(54507), FBN2(2201), EFEMP1(2202), FBP1(2203), SPINK5(11005), CCBE1(147372), FBLN1(2192), SLC16A1(6566), EDARADD(128178), SLC16A2(6567), SLC22A5(6584), KCNQ1OT1(10984), FAH(2184), SNAI2(6591), FANCD2(2177), FANCC(2176), FECH(2235), SLC5A5(6528), NEUROG3(50674), SLC6A8(6535), FKTN(2218), SLC12A3(6559), SLC12A1(6557), PUS1(80324), WNT10A(80326), SNRPN(6638), FH(2271), LHX4(89884), FGFR1(2260), FGFR3(2261), FGFR2(2263), FGF14(2259), FGF10(2255), SOS1(6654), FGF3(2248), FGD1(2245), FGB(2244), SOD1(6647), EDAR(10913), FGA(2243), GDF6(392255), FES(2242), SMN1(6606), FOXC2(2303), FOXE3(2301), FOXI1(2299), SMCR(6600), FOXC1(2296), FOXF1(2294), ALOXE3(59344), TRPV4(59341), SNCA(6622), SNCB(6620), SMS(6611), SMPD1(6609), ERBB3(2065), ERBB2(2064), DEC1(50514), ERCC2(2068), ERCC3(2071), SFTPB(6439), EYA4(2070), ERCC5(2073), SFTPD(6441), ERCC4(2072), SGCB(6443), ERCC6(2074), SGCA(6442), SGCG(6445), SGSH(6448), EPHX1(2052), BLOC1S3(388552), SH3BP2(6452), CLN8(2055), SH3GL1(6455), SYCP3(50511), SPG11(80208), SOX18(54345), FTCD(10841), ETFDH(2110), ETFB(2109), ETFA(2108), WNT4(54361), OPA3(80207), GJB6(10804), EXT2(2132), SEPT9(10801), SIX3(6496), EXT1(2131), APOA5(116519), EWSR1(2130), CEP290(80184), SLC1A1(6505), EYA1(2138), SLC2A1(6513), SLC2A2(6514), SLC17A3(10786), ETV1(2115), SLC5A2(6524), GDAP1(54332), ETV6(2120), EVC(2121), SLC4A1(6521), SLC5A1(6523), SMARCAL1(50485), FRAS1(80144), F13B(2165), SHH(6469), F13A1(2162), F12(2161), F11(2160), TSEN54(283989), SI(6476), SHOX(6473), F2(2147), F9(2158), F10(2159), F8(2157), F7(2155), F5(2153), SCN5A(6331), SCN4A(6329), SCN9A(6335), NAGS(162417), SCN1A(6323), HPS5(11234), SLC6A19(340024), SCN2A(6326), RNF139(11236), ATXN7(6314), ATXN8OS(6315), ATXN1(6310), ATXN2(6311), SC5DL(6309), SALL1(6299), SAT1(6303), TSPAN31(6302), RAB39B(116442), GNASAS(149775), NUP62(23636), DCAF17(80067), SAG(6295), FSHB(2488), FSHR(2492), SEC63(11231), TRAPPC2(6399), SLC6A20(54716), TREH(11181), LZTS1(11178), CNGB3(54714), SDHD(6392), SDHC(6391), SDHB(6390), SDHA(6389), PDP1(54704), AMACR(23600), PIKFYVE(200576), FUT1(2523), LEMD3(23592), PDSS1(23590), FUCA2(2519), FUCA1(2517), RASSF1(11186), FTL(2512), SLC37A4(2542), GLMN(11146), G6PC(2538), IL1RAPL1(11141), DARC(2532), GABRA3(2556), PANK2(80025), SCNN1G(6340), GAA(2548), UGT1A1(54658), SCNN1A(6337), SCNN1B(6338), LDB3(11155), FOXE1(2304), RPS4Y1(6192), FOXO1(2308), RPS6KA3(6197), FLG(2312), FLNC(2318), GRHL2(79977), FLNA(2316), FLNB(2317), FLT3(2322), FLT4(2324), FMO3(2328), RPS4X(6191), FN1(2335), AFF2(2334), FMR1(2332), TRIOBP(11078), KERA(11081), L2HGDH(79944), ADAMTS13(11093), RYR1(6261), EGLN1(54583), RS1(6247), FXN(2395), HYLS1(219844), RPS14(6208), HPS4(89781), RPS19(6223), TH(7054), PLCE1(51196), TGIF1(7050), GLUD1(2746), TGM1(7051), ATXN8(724066), TGFBR2(7048), TGFBR1(7046), GLRB(2743), CLN6(54982), GLRA1(2741), TGFBI(7045), TGFB3(7043), CRBN(51185), SLC25A38(54977), TGFB1(7040), GLI3(2737), DCXR(51181), GLE1(2733), THRB(7068), GLDC(2731), THRA(7067), THPO(7066), GCLC(2729), EMG1(10436), MYO15A(51168), GLB1(2720), TK2(7084), GLA(2717), GPC3(2719), NKX2-1(7080), CRTAP(10491), SEC23A(10484), TIMP2(7077), GK(2710), TIMP3(7078), GJB1(2705), GJB2(2706), GJB3(2707), SEC23B(10483), SLC9A6(10479), GJA8(2703), GJA5(2702), GJA1(2697), FST(10468), GIP(2695), GIF(2694), PROKR2(128674), GH1(2688), GHR(2690), SAR1B(51128), GP1BA(2811), GP9(2815), GP1BB(2812), NDRG1(10397), COL18A1(80781), GNS(2799), GNRHR(2798), TUBB3(10381), SBDS(51119), TNFRSF1A(7132), GNRH1(2796), TNF(7124), ABHD5(51099), GNAS(2778), TNXB(7148), TNNI2(7136), TNNI3(7137), TNNT1(7138), TNNT2(7139), GNAI2(2771), TNNT3(7140), SDHAF2(54949), GM2A(2760), TPBG(7162), TPI1(7167), TP53(7157), SDHAF1(644096), ATL1(51062), TBXAS1(6916), TBX15(6913), HNF1A(6927), GATA1(2623), TBX3(6926), CC2D1A(54862), GARS(2617), HNF1B(6928), GALT(2592), GAMT(2593), TCIRG1(10312), GALC(2581), TCOF1(6949), TCN2(6948), GALE(2582), BCOR(54880), GALNS(2588), GALNT3(2591), GALK1(2584), TRA@(6955), MKS1(54903), GABRG2(2566), SLC22A12(116085), MRPS16(51021), WHSC1L1(54904), GAD1(2571), GGCX(2677), B4GALT1(2683), NLRP7(199713), ZMPSTE24(10269), GPHN(10243), GDF1(2657), AHI1(54806), DYM(54808), TEAD1(7003), SAMD9(54809), GDI1(2664), GFAP(2670), TECTA(7007), GDNF(2668), GCH1(2643), TEK(7010), GCK(2645), TERC(7012), TERT(7015), SOST(50964), TF(7018), GCSH(2653), TFAP2B(7021), OPN1MW(2652), TFAP2A(7020), GATA3(2625), TBX22(50945), GBA(2629), TFE3(7030), GBE1(2632), APTX(54840), TG(7038), TGFA(7039), GCDH(2639), GULOP(2989), GUSB(2990), GUCA1A(2978), FOXP3(50943), PDE11A(50940), GUCY2D(3000), CDKL5(6792), STK11(6794), USH1G(124590), AURKC(6795), FOXP2(93986), GYS2(2998), ELOVL4(6785), CANT1(124583), MSH6(2956), SURF1(6834), ABCC8(6833), RAI1(10743), SUOX(6821), HBQ1(3049), TAF1(6872), HBG2(3048), HBZ(3050), SERPIND1(3053), HCCS(3052), HBA2(3040), HBB(3043), TAC3(6866), HBD(3045), CYP2R1(120227), HBG1(3047), TACR3(6870), HBE1(3046), HTT(3064), SPINT2(10653), HCRT(3060), SYN1(6853), SYP(6855), SERPINA7(6906), TBCE(6905), TBX5(6910), TBP(6908), TBX1(6899), ATCAY(85300), TAZ(6901), EBP(10682), TAP1(6890), DLL3(10683), TAP2(6891), HADHB(3032), HADH(3033), BBS7(55212), CLDN16(10686), HBA1(3039), DHH(50846), TAPBP(6892), AGRN(375790), HADHA(3030), TAL1(6886), HSD17B10(3028), HAGH(3029), SLC19A2(10560), SPG7(6687), SLC34A2(10568), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), SOX3(6658), NSDHL(50814), GPX1(2876), POMT1(10585), ANO5(203859), SPTB(6710), SPTA1(6708), GPI(2821), PRPF8(10594), AKR1D1(6718), D2HGDH(728294), SRD5A2(6716), SPTBN2(6712), PNPO(55163), GFM1(85476), SPINK1(6690), THAP1(55145), SPR(6697), SRY(6736), GRM6(2916), GRPR(2925), FBLN5(10516), GSN(2934), GSS(2937), GSR(2936), STAR(6770), ST14(6768), STAT3(6774), STAT1(6772), SSTR5(6755), GRN(2896), SLC34A3(142680), AGPAT2(10555), SLC35A1(10559), SPTLC1(10558), NR3C1(2908), MMADHC(27249), HSD17B3(3293), HSD17B4(3295), H19(283120), HSD11B2(3291), GNMT(27232), HRAS(3265), COQ2(27235), DOLK(22845), HRG(3273), BBS9(27241), HSPB1(3315), HSF4(3299), ZNF35(7584), DISC2(27184), ZNF41(7592), KCTD7(154881), HOXA11(3207), HOXA13(3209), ASPM(259266), C8orf38(137682), CNBP(7555), HPRT1(3251), HPGD(3248), HPS1(3257), HOXD13(3239), FASTKD2(22868), HOXD10(3236), GNPTG(84572), HPD(3242), ZAP70(7535), TRIM32(22954), CCT5(22948), HMGCL(3155), HMBS(3145), ZIC1(7545), ZIC3(7547), FAM126A(84668), HLCS(3141), ZFX(7543), HOXA2(3199), TLX1(3195), XDH(7498), WT2(7491), WT1(7490), VMA21(203547), KISS1R(84634), RPIA(22934), XPC(7508), ZNF469(84627), HNF4A(3172), RAB3GAP1(22930), XPA(7507), WHCR(7467), WFS1(7466), HK1(3098), WHSC1(7468), WNT10B(7480), HGD(3081), HGF(3082), WRN(7486), BEAN(146227), WNT3(7473), HEXA(3073), CFH(3075), WNT7A(7476), HFE(3077), BEST1(7439), VLDLR(7436), HLA-DRA(3122), VHL(7428), VWF(7450), WAS(7454), GORAB(92344), MCEE(84693), VRK1(7443), HLA-A(3105), MNX1(3110), VCP(7415), VDR(7421), USH2A(7399), IHH(3549), CLRN1(7401), UQCRB(7381), UPK3A(7380), SLC2A10(81031), UROD(7389), UROS(7390), IL2RG(3561), UQCRC1(7384), UMPS(7372), UNG(7374), UMOD(7369), IFNGR1(3459), UCHL1(7345), IGF1(3479), IGBP1(3476), IGF1R(3480), UBE3A(7337), TTC8(123016), LMNB2(84823), UBB(7314), UBA1(7317), IGHG1(3500), TYR(7299), IGHMBP2(3508), TTBK2(146057), CDAN1(146059), TYROBP(7305), TYRP1(7306), IGKC(3514), DIRC2(84925), TWIST1(7291), TULP1(7287), IDS(3423), TTR(7276), TTPA(7274), TTN(7273), TST(7263), TSPYL1(7259), TSHB(7252), TSHR(7253), SP110(3431), TSC1(7248), TSC2(7249), CFI(3426), HSPG2(3339), TRPS1(7227), BCMO1(53630), HSPD1(3329), TRH(7200), MMAB(326625), HYAL1(3373), TPM2(7169), TPM1(7168), TPM3(7170), MASTL(84930), TPO(7173), TPMT(7172), GAN(8139), SATB2(23314), BRIP1(83990), KIT(3815), ADAMTS10(81794), RPGRIP1L(23322), KLKB1(3818), SBF2(81846), KHK(3795), KIF5A(3798), TMPRSS6(164656), KCNMA1(3778), VANGL1(81839), KCNQ2(3785), KCNQ1(3784), KCNQ3(3786), KDR(3791), KCNJ11(3767), ARHGEF12(23365), FGF23(8074), KCNJ13(3769), MED25(81857), AAAS(8086), KCNC3(3748), KCNJ2(3759), KCNJ1(3758), KCNH2(3757), GPR98(84059), KCNE1(3753), DTNBP1(84062), CD82(3732), JUP(3728), KAL1(3730), DICER1(23405), KCNA1(3736), ATP13A2(23400), PABPN1(8106), JAK2(3717), IGHR(8117), ZFPM2(23414), IVD(3712), TCL1A(8115), MLYCD(23417), CRB1(23418), AMN(81693), ITPR1(3708), ZIC4(84107), ARL6(84100), B4GALT7(11285), ITGB3(3690), ITGB4(3691), ITGB2(3689), CCDC6(8030), NCOA4(8031), MLLT10(8028), TREX1(11277), CUBN(8029), ALS2(57679), LHX3(8022), NUP214(8021), ITGA2(3673), ITGA2B(3674), IRF6(3664), PARK7(11315), PRX(57716), IRF1(3659), DOCK8(81704), CSRP3(8048), PDHX(8050), PDX1(3651), ETHE1(23474), ISCU(23479), ITGA6(3655), ZFYVE26(23503), INSR(3643), TNFRSF13B(23495), INS(3630), ING1(3621), EPM2A(7957), HGSNAT(138050), IMPDH1(3614), CLCF1(23529), ATP6V0A2(23545), IL12B(3593), GJB4(127534), LYL1(4066), LYZ(4069), SH2D1A(4068), TACSTD2(4070), SETX(23064), MANF(7873), RAB7A(7879), SMAD4(4089), SMAD9(4093), NIPA1(123606), KIF1B(23095), LRP2(4036), LRP5(4041), ISCW(7928), VSX1(30813), ALDH5A1(7915), LTC4S(4056), LMNB1(4001), LMNA(4000), NPHS2(7827), C1QTNF5(114902), LOX(4015), LOR(4014), NHLRC1(378884), LMX1B(4010), SPG20(23111), LPL(4023), PHF6(84295), BSND(7809), LPA(4018), TREM2(54209), NLGN4X(57502), LPP(4026), LHCGR(3973), LHB(3972), HPS3(84343), LIFR(3977), LIPC(3990), TUBA1A(7846), PCDH19(57526), LIPA(3988), ALMS1(7840), MOGS(7841), LMAN1(3998), CXCR4(7852), LDLR(3949), LCT(3938), SLC35D1(23169), UQCRQ(27089), LPIN1(23175), LAMB3(3914), PLEKHG5(57449), LAMB1(3912), LAMB2(3913), LAMC2(3918), VPS13A(23230), LAMA2(3908), LAMA3(3909), INVS(27130), LCAT(3931), LBR(3930), MLC1(23209), LAMP2(3920), KRT81(3887), ZBTB16(7704), DNAI1(27019), KRT17(3872), L1CAM(3897), ATP2C1(27032), KRT86(3892), FREM2(341640), NPHP3(27031), KRT83(3889), KRT85(3891), KRT6B(3854), KRT5(3852), KRT6A(3853), KRT3(3850), NKX2-6(137814), KRT4(3851), KRT1(3848), KRT2(3849), KRAS(3845), AICDA(57379), KRT16(3868), SLITRK1(114798), KRT14(3861), KRT13(3860), KRT12(3859), KRT10(3858), KRT9(3857)]
INSIDIOUS ONSET(HP:0003587)	[OPA1(4976), NIPA1(123606), ATL1(51062), MPZ(4359), PMP22(5376), KIAA0196(9897), SPAST(6683)]
INSPIRATORY STRIDOR(HP:0005348)	[IGHMBP2(3508), D2HGDH(728294)]
INSULIN INSENSITIVITY(HP:0008189)	[CNBP(7555)]
INSULIN RESISTANCE(HP:0000855)	[BSCL2(26580), PPARG(5468), INSR(3643), GCK(2645), LMNA(4000), HNF1A(6927), PAX4(5078), ABCC8(6833), ZMPSTE24(10269), PPP1R3A(5506), ALMS1(7840), HNF1B(6928), AGPAT2(10555), ZFP57(346171), HNF4A(3172), AKT2(208), TNDM(7952)]
INSULIN-DEPENDENT BUT KETOSIS-RESISTANT DIABETES(HP:0008205)	[SPINK1(6690)]
INSULIN-DEPENDENT MATURITY-ONSET DIABETES OF THE YOUNG(HP:0004904)	[GCK(2645), HNF1B(6928), HNF1A(6927), HNF4A(3172)]
INSULIN-RESISTANT DIABETES MELLITUS(HP:0000831)	[BSCL2(26580), PPARG(5468), INSR(3643), GCK(2645), LMNA(4000), HNF1A(6927), ZMPSTE24(10269), PPP1R3A(5506), HNF1B(6928), ALMS1(7840), AGPAT2(10555), ZFP57(346171), HNF4A(3172), TNDM(7952)]
INSULIN-RESISTANT DIABETES MELLITUS AT PUBERTY(HP:0000877)	[BSCL2(26580), AGPAT2(10555)]
INTEGUMENT ABNORMALITY(HP:0001574)	[FBN1(2200), SUCLG1(8802), TINF2(26277), VPS33B(26276), SPINK5(11005), PPOX(5498), CCBE1(147372), MCCC2(64087), H19(283120), DPM1(8813), EDARADD(128178), SLC35C1(55343), HRAS(3265), SNAI2(6591), FANCD2(2177), DOLK(22845), CTSA(5476), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), FECH(2235), PPARG(5468), NOD2(64127), LYST(1130), SLC5A5(6528), B3GALTL(145173), SART3(9733), MPL(4352), CHRNG(1146), MPV17(4358), CHRND(1144), TNFRSF10B(8795), PUS1(80324), WNT10A(80326), SNRPN(6638), FH(2271), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), CDKN2A(1029), POLH(5429), FGF10(2255), SOS1(6654), HOXA11(3207), CECR(1055), CDSN(1041), FGD1(2245), ACVRL1(94), EDAR(10913), GDF6(392255), FGA(2243), C8orf38(137682), ACVR1(90), FOXC2(2303), HPRT1(3251), CNBP(7555), ADAR(103), MSH2(4436), HPGD(3248), CETP(1071), PMS2(5395), HPS1(3257), ALOXE3(59344), WNK1(65125), CUL7(9820), CTSC(1075), SMPD1(6609), PRNP(5621), ABCA12(26154), ERCC2(2068), TRIM32(22954), ERCC3(2071), ERCC5(2073), ERCC4(2072), ERCC6(2074), STRA6(64220), PROC(5624), PROS1(5627), MAP2K1(5604), SGSH(6448), MAP2K2(5605), C7orf11(136647), SH3BP2(6452), BLOC1S3(388552), ABCC2(1244), HLCS(3141), AGA(175), ABCG8(64241), ABCG5(64240), SOX18(54345), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), PRKAR1A(5573), NR0B1(190), AHCY(191), AGXT(189), COL1A2(1278), WNT4(54361), XPC(7508), ZNF469(84627), COL1A1(1277), KIAA1279(26128), PRKCA(5578), RAB3GAP1(22930), XPA(7507), MSX1(4487), GJB6(10804), WHCR(7467), HK1(3098), WHSC1(7468), ERCC8(1161), CEP290(80184), MVK(4598), MUTYH(4595), EYA1(2138), MED12(9968), HGD(3081), TRIM37(4591), ALDH1A1(216), ALDH2(217), NCF1(653361), WRN(7486), SLC17A3(10786), SLC2A2(6514), HEXB(3074), ABCD1(215), SLC4A1(6521), EVC(2121), HFE(3077), NOP10(55505), SMARCAL1(50485), FRAS1(80144), F11(2160), FANCA(2175), WISP3(8838), ALDOB(229), ALDOA(226), ALDH3A2(224), VHL(7428), PPP1R3A(5506), VWF(7450), WAS(7454), GORAB(92344), ALPL(249), F9(2158), CARD9(64170), F8(2157), ALOX12B(242), SCN9A(6335), CPOX(1371), CPN1(1369), CLDN1(9076), NSD1(64324), ANCR(282), HPS5(11234), LMBR1(64327), VDR(7421), SCN2A(6326), ANK1(286), SLC6A19(340024), FERMT1(55612), ESCO2(157570), SLC7A7(9056), ABCB4(5244), ALX3(257), COX15(1355), GNE(10020), IHH(3549), MC2R(4158), SALL1(6299), SLC2A10(81031), PEX10(5192), PEX14(5195), SAT1(6303), PEX13(5194), AIP(9049), UROD(7389), PEX1(5189), PSTPIP1(9051), PEX7(5191), UROS(7390), IL2RG(3561), DCAF17(80067), PEPD(5184), C10orf2(56652), PFKM(5213), SLC17A5(26503), CREBBP(1387), ATP8B1(5205), SLC12A6(9990), CPT2(1376), MAN2B1(4125), MANBA(4126), APOB(338), APOA2(336), SDHD(6392), COL17A1(1308), SDHC(6391), SDHB(6390), NHP2(55651), SDHA(6389), APOE(348), MECP2(4204), AMACR(23600), PDGFRA(5156), AIRE(326), COL5A2(1290), COL6A1(1291), APC(324), COL5A1(1289), COL7A1(1294), MEFV(4210), COL6A2(1292), COL6A3(1293), LEMD3(23592), COL4A1(1282), GPC6(10082), APOA1(335), FUCA1(2517), UBE3A(7337), MEN1(4221), COL3A1(1281), COL4A5(1287), PQBP1(10084), TTC8(123016), PEX26(55670), BSCL2(26580), LMNB2(84823), SLC37A4(2542), VPS13B(157680), SLC39A4(55630), ABCC6(368), G6PD(2539), GLMN(11146), G6PC(2538), TMC8(147138), PANK2(80025), TYR(7299), IGHMBP2(3508), CDAN1(146059), FAS(355), TYROBP(7305), TYRP1(7306), AR(367), UGT1A1(54658), CHD7(55636), ARSB(411), PLOD1(5351), ARSE(415), TWIST1(7291), STS(412), LPAR6(10161), RPS6KA3(6197), SERPINF2(5345), FLG(2312), CTNNB1(1499), FLNA(2316), PLOD2(5352), FLNB(2317), CTNS(1497), IDS(3423), MID1(4281), TTR(7276), MITF(4286), TTPA(7274), FLT4(2324), PMM2(5373), OSMR(9180), LRPPRC(10128), PKLR(5313), TSHR(7253), ASL(435), CYBA(1535), TSC1(7248), CYB5A(1528), TSC2(7249), CFI(3426), ASAH1(427), ARX(170302), MBTPS2(51360), KITLG(4254), PLG(5340), CTSK(1513), POMP(51371), PLEC(5339), MGAT2(4247), HSPG2(3339), TRPS1(7227), CD96(10225), BCMO1(53630), ATM(472), PIK3CA(5290), ATIC(471), LMBRD1(55788), PRKAG2(51422), TRH(7200), MLPH(79083), HR(55806), ALG3(10195), HYAL1(3373), DCLRE1C(64421), MLH1(4292), PHYH(5264), PI3(5266), ANTXR2(118429), MMP2(4313), ATP2A2(488), HPS4(89781), TPM2(7169), RPS19(6223), MASTL(84930), PLCE1(51196), DDB1(1642), RET(5979), DDB2(1643), NPR2(4882), TGM1(7051), ATR(545), TGFBR1(7046), GAN(8139), TGFB1(7040), GLI3(2737), DCR(1637), NOG(9241), NPHS1(4868), THPO(7066), NPC1(4864), CRLF1(9244), GLB1(2720), GLA(2717), GPC3(2719), NTRK1(4914), MRPS22(56945), SEC23A(10484), ROR2(4920), RHAG(6005), GJB2(2706), GJB3(2707), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), GJA1(2697), FST(10468), KDR(3791), ATP7A(538), NDUFS7(374291), GP1BA(2811), MKKS(8195), GP9(2815), GP1BB(2812), OCA2(4948), OCRL(4952), GDF5(8200), BCS1L(617), FGF23(8074), AAAS(8086), GPR143(4935), GNS(2799), RAG2(5897), UROC1(131669), CYP27A1(1593), RAG1(5896), TNFRSF1A(7132), DTNBP1(84062), CYP11B1(1584), CD82(3732), ABHD5(51099), GNAS(2778), RBP4(5950), TNXB(7148), JUP(3728), TRIP11(9321), KAL1(3730), BBS1(582), BBS2(583), CYLD(1540), BBS4(585), CYBB(1536), NIPBL(25836), JAK2(3717), BBS10(79738), CCND1(595), KDM5C(8242), SNAP29(9342), TPI1(7167), TGM5(9333), BTD(686), DMPK(1760), TBXAS1(6916), EFEMP2(30008), ARL6(84100), GATA1(2623), TBX3(6926), BRAF(673), B4GALT7(11285), ITGB3(3690), ITGB4(3691), ALS2(57679), TREX1(11277), KL(9365), BTK(695), TCOF1(6949), PAH(5053), BMP4(652), GALE(2582), ITGA2B(3674), TMC6(11322), BCOR(54880), DKC1(1736), IRF6(3664), GALNT3(2591), DLD(1738), BLM(641), GALK1(2584), FOXL2(668), BPGM(669), MKS1(54903), DLX3(1747), DOCK8(81704), RECQL4(9401), MRPS16(51021), ETHE1(23474), HPS6(79803), ITGA6(3655), INSR(3643), EHMT1(79813), FLCN(201163), GGCX(2677), PAX3(5077), ZMPSTE24(10269), RMRP(6023), DGUOK(1716), DHCR7(1717), DGCR(1714), SAMD9(54809), CYB5R3(1727), EPM2A(7957), ING1(3621), C1R(715), HGSNAT(138050), C2(717), CLCF1(23529), PCNT(5116), TERC(7012), TERT(7015), SOST(50964), C3(718), ROBLD3(28956), TFAP2A(7020), SERPING1(710), PCCB(5096), ATP6V0A2(23545), GBA(2629), GJB4(127534), C4A(720), CHST3(9469), PCCA(5095), C5(727), TGFA(7039), TBX4(9496), P2RY12(64805), GUSB(2990), LYZ(4069), BBS5(129880), SLURP1(57152), MYH3(4621), SETX(23064), EDNRB(1910), EDA(1896), IKBKG(8517), FOXP3(50943), IKBKAP(8518), PDE11A(50940), CDKL5(6792), STK11(6794), PTCH1(5727), MYH9(4627), AURKC(6795), RAB7A(7879), SMAD4(4089), ECM1(1893), MSH6(2956), MYO5A(4644), PTGS1(5742), KIF1B(23095), LRP2(4036), PTEN(5728), SURF1(6834), AP3B1(8546), NAGA(4668), PTH1R(5745), NAGLU(4669), SUOX(6821), ADAMTS2(9509), PRSS1(5644), HBG2(3048), LMNB1(4001), HCCS(3052), LMNA(4000), NPHS2(7827), KRIT1(889), EVC2(132884), LOX(4015), HBB(3043), NBN(4683), LOR(4014), NHLRC1(378884), LMX1B(4010), SLC26A2(1836), NCF2(4688), CUL4B(8450), LPL(4023), NDN(4692), DSP(1832), TREM2(54209), NDUFA2(4695), DSG1(1828), FOXN1(8456), CBS(875), TMPRSS15(5651), ALX4(60529), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), RUNX1(861), LIFR(3977), EBP(10682), TAP1(6890), NDUFS3(4722), TAP2(6891), NDUFV1(4723), LIPA(3988), OFD1(8481), BBS7(55212), HBA1(3039), TAPBP(6892), NDUFS4(4724), ALMS1(7840), MOGS(7841), DPAGT1(1798), CASP10(843), CXCR4(7852), NDUFS8(4728), CASP8(841), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), SLC19A2(10560), LDLR(3949), PEX5(5830), STOM(2040), SOX10(6663), SOX9(6662), NPC2(10577), NF1(4763), ENG(2022), NSDHL(50814), RSPO4(343637), ABCB11(8647), SPTB(6710), LAMB3(3914), SPTA1(6708), LAMB1(3912), LAMB2(3913), GPI(2821), ELN(2006), LAMC2(3918), AKR1D1(6718), SRD5A2(6716), NF2(4771), LAMA3(3909), LBR(3930), RAB27A(5873), MLC1(23209), MRAP(56246), KRT81(3887), CDK4(1019), NGF(4803), KRT17(3872), CDH3(1001), PTPN11(5781), ATP2C1(27032), FBLN5(10516), NME1(4830), GSN(2934), KRT86(3892), FREM2(341640), KRT83(3889), KRT85(3891), KRT6B(3854), ADAMTSL2(9719), ST14(6768), KRT5(3852), KRT6A(3853), STAT3(6774), KRT4(3851), KRT1(3848), KRT2(3849), NLRP3(114548), TP63(8626), KRAS(3845), SEMA3E(9723), EFNB1(1947), SUMF1(285362), KRT16(3868), AGPAT2(10555), KRT14(3861), KRT13(3860), PVRL1(5818), SPTLC1(10558), NOTCH3(4854), KRT10(3858), KRT9(3857)]
INTENTION TREMOR(HP:0002080)	[ITM2B(9445), ABCB7(22), FAM126A(84668), TBP(6908), ATCAY(85300), GSS(2937), PTEN(5728), SPTBN2(6712)]
INTERCRURAL PTERYGIUM(HP:0009757)	[CHRNG(1146), IRF6(3664)]
INTERICTAL VESTIBULAR DYSFUNCTION(HP:0006917)	[CACNA1A(773)]
INTERMITTENT CEREBELLAR ATAXIA(HP:0006862)	[SLC6A19(340024)]
INTERMITTENT CLAUDICATION(HP:0004417)	[ABCC6(368), AGXT(189)]
INTERMITTENT DIARRHEA(HP:0002254)	[G6PC(2538), TYMP(1890), POLG(5428)]
INTERMITTENT EPISODES OF RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0004889)	[CHRNA1(1134), CHRNE(1145), CHRND(1144), CHRNB1(1140)]
INTERMITTENT GENERALIZED ERYTHEMATOUS PAPULAR RASH(HP:0007432)	[NOD2(64127)]
INTERMITTENT HYPERPNEA AT REST(HP:0005941)	[SUCLG1(8802)]
INTERMITTENT HYPERVENTILATION(HP:0004879)	[SUCLG1(8802), MECP2(4204)]
INTERMITTENT HYPOTHERMIA(HP:0005964)	[DDC(1644)]
INTERMITTENT JAUNDICE(HP:0001046)	[ABCB11(8647)]
INTERMITTENT LACTIC ACIDEMIA(HP:0004913)	[TAZ(6901)]
INTERMITTENT THROMBOCYTOPENIA(HP:0004854)	[GP1BA(2811), WAS(7454)]
INTEROSSEUS MUSCLE ATROPHY(HP:0007181)	[COL6A1(1291), COL6A2(1292), ADSL(158), COL6A3(1293), EMD(2010), AR(367), VMA21(203547), MANBA(4126)]
INTERPHALANGEAL JOINT CONTRACTURES(HP:0001220)	[FBN2(2201), MMP2(4313)]
INTERPHALANGEAL JOINT EROSIONS(HP:0006252)	[MMP2(4313)]
INTERSTITIAL FIBROSIS(HP:0000129)	[NPHP4(261734), CLCN5(1184), PKHD1(5314), HPS3(84343), HPS5(11234), HPS1(3257), BLOC1S3(388552), NPHP1(4867), HNF1B(6928), HPS4(89781), NPHP3(27031), HPS6(79803), DTNBP1(84062)]
INTERSTITIAL PNEUMONITIS(HP:0006515)	[TINF2(26277), TERC(7012), TERT(7015)]
INTERSTITIAL PULMONARY DISEASE(HP:0006530)	[TINF2(26277), GBA(2629), TERC(7012), TERT(7015)]
INTESTINAL BLEEDING(HP:0002584)	[STK11(6794)]
INTESTINAL CARCINOID(HP:0006723)	[SDHD(6392)]
INTESTINAL EDEMA(HP:0005225)	[SERPING1(710)]
INTESTINAL LYMPHANGIECTASIA(HP:0002593)	[CCBE1(147372)]
INTESTINAL MALROTATION(HP:0002566)	[WHCR(7467), GPC3(2719), CD96(10225), WHSC1(7468), LRP2(4036), SALL4(57167), PORCN(64840), STRA6(64220), NIPBL(25836), TFAP2A(7020), EYA1(2138), MED12(9968), LBR(3930), MKS1(54903), FAM123B(139285), NPHP3(27031)]
INTESTINAL OBSTRUCTION(HP:0005214)	[GTF2H5(404672), ERCC2(2068), ERCC3(2071)]
INTESTINAL POLYPS(HP:0005266)	[APC(324), STK11(6794), SMAD4(4089), PTEN(5728)]
INTESTINAL PSEUDO-OBSTRUCTION(HP:0004389)	[IDS(3423), POLG(5428), FLNA(2316), C10orf2(56652)]
INTIMAL THICKENING IN THE CORONARY ARTERIES(HP:0005292)	[GLB1(2720)]
INTOLERANCE TO HEAT AND FEVER(HP:0002046)	[EDA(1896), EDAR(10913), EDARADD(128178)]
INTOLERANCE TO PROTEIN(HP:0001984)	[PCCB(5096), PCCA(5095)]
INTRAALVEOLAR NODULAR CALCIFICATIONS(HP:0006514)	[SLC34A2(10568)]
INTRAAXONAL ACCUMULATION OF CURVILINEAR PROFILES(HP:0006916)	[NDRG1(10397)]
INTRACELLULAR ACCUMULATION OF AUTOFLUORESCENT LIPOPIGMENT STORAGE MATERIAL(HP:0003204)	[CLN5(1203), TPP1(1200), CLN3(1201), NDRG1(10397), CLN8(2055), CLN6(54982)]
INTRACEREBRAL CALCIFICATION ON CT SCAN(HP:0005806)	[GCM2(9247), PTH(5741), CASR(846)]
INTRACEREBRAL PERIVENTRICULAR CALCIFICATIONS(HP:0007229)	[CPT2(1376)]
INTRACRANIAL CALCIFICATION BY X-RAY OR CT(HP:0006848)	[TSC1(7248), TSC2(7249)]
INTRACRANIAL HEMORRHAGE(HP:0002170)	[RET(5979), ITGA2B(3674), ABCC6(368), KIF1B(23095), F13A1(2162), SDHD(6392), APP(351), KRIT1(889), SDHB(6390), CST3(1471), VHL(7428), ITGB3(3690), JAK2(3717), DOCK8(81704), ENG(2022), ALPL(249), SMAD4(4089), F10(2159), ACVRL1(94), PKD2(5311), CPT2(1376), ATP7A(538)]
INTRACTABLE DIARRHEA(HP:0002041)	[ITGB4(3691), C5(727), ITGA6(3655)]
INTRACTABLE SEIZURES(HP:0001303)	[DCX(1641), ARX(170302), GAMT(2593), PSAT1(29968), FLNA(2316)]
INTRAHEPATIC BILIARY DYSGENESIS(HP:0001401)	[PEX19(5824), ABCD3(5825), PEX2(5828), PEX10(5192), PEX14(5195), PEX5(5830), PEX13(5194), PEX1(5189), PEX3(8504), PEX26(55670)]
INTRAHEPATIC CHOLESTASIS(HP:0001406)	[SLC25A13(10165), AKR1D1(6718), ATP8B1(5205), ABCB11(8647), AMACR(23600), SC5DL(6309)]
INTRAHEPATIC CHOLESTASIS WITH EPISODIC JAUNDICE(HP:0006575)	[ATP8B1(5205)]
INTRAHEPATIC DUCT DEFICIENCY(HP:0006571)	[JAG1(182)]
INTRAUTERINE GROWTH FAILURE(HP:0008931)	[TBCE(6905)]
INTRAUTERINE GROWTH RETARDATION(HP:0001511)	[KCNJ11(3767), CD96(10225), TINF2(26277), RAPSN(5913), ERCC8(1161), STRA6(64220), ERCC6(2074), H19(283120), ZMPSTE24(10269), INS(3630), ESCO2(157570), IGF1(3479), IGF1R(3480), TNDM(7952), SMARCAL1(50485), CHRNA1(1134), TBCE(6905), GCK(2645), PKLR(5313), PCNT(5116), B3GALTL(145173), HYLS1(219844), NODAL(4838), ABCC8(6833), IGHMBP2(3508), ATP6V0A2(23545), GFM1(85476), CHRNG(1146), GBA(2629), DOK7(285489), CUL7(9820), CHRND(1144), ZFP57(346171), PDX1(3651), ATP7A(538)]
INTUSSUSCEPTION(HP:0002576)	[STK11(6794), SMAD4(4089), PTEN(5728), BMPR1A(657)]
INVERTED NIPPLES(HP:0003186)	[ACOX1(51), NSD1(64324), PMM2(5373)]
INVOLUNTARY DYSTONIC OR CHOREIFORM MOVEMENTS(HP:0007166)	[KCNMA1(3778)]
INVOLUNTARY JERKING MOVEMENTS(HP:0007087)	[TH(7054)]
INVOLUNTARY MOVEMENTS OF EXTREMITIES, NECK, TRUNK, AND/OR FACE(HP:0007120)	[PNKD(25953)]
INVOLUNTARY MUSCLE CONTRACTIONS(HP:0004305)	[SMN1(6606), SH3TC2(79628), HSPB1(3315), TSPYL1(7259), VAPB(9217), PSAP(5660), GPHN(10243), ATXN3(4287), C20orf54(113278), HEXB(3074), SOD1(6647), AR(367), ATXN2(6311), MOCS2(4338), MOCS1(4337), TOR1A(1861)]
INVOLUNTARY WRITHING MOVEMENTS(HP:0007316)	[SLC16A2(6567)]
IPSILATERAL MANDIBULAR HYPOPLASIA(HP:0005470)	[NSDHL(50814)]
IRIS ATROPHY(HP:0001089)	[LRP5(4041)]
IRIS COLOBOMA(HP:0000612)	[FBN2(2201), WHCR(7467), RBP4(5950), SHH(6469), PAX6(5080), ALG3(10195), WHSC1(7468), HCCS(3052), ZEB2(9839), LRP2(4036), SALL4(57167), PORCN(64840), B3GALTL(145173), SEMA3E(9723), TFAP2A(7020), MKS1(54903), GJA8(2703), GJA1(2697), CECR(1055), IGBP1(3476), CHD7(55636)]
IRITIS(HP:0001101)	[RAG2(5897), RAG1(5896)]
IRON DEFICIENCY ANEMIA(HP:0001891)	[WAS(7454), STK11(6794), FAS(355), CASP10(843), TMPRSS6(164656)]
IRREGULAR CARPAL BONES(HP:0004236)	[COMP(1311), EIF2AK3(9451)]
IRREGULAR EPIPHYSES(HP:0010582)	[COMP(1311), MATN3(4148), COL9A3(1299), DYM(54808), COL9A2(1298), COL9A1(1297), COL11A1(1301)]
IRREGULAR FEMORAL EPIPHYSES(HP:0006361)	[COL11A1(1301)]
IRREGULAR HEART BEAT(HP:0001721)	[SCN5A(6331), GJA5(2702), KCNQ1(3784)]
IRREGULAR ILIAC CREST(HP:0003796)	[DYM(54808), LMX1B(4010)]
IRREGULAR LOOPS AND FOCAL FOLDING OF MYELIN SHEATHS(HP:0007208)	[MTMR2(8898)]
IRREGULAR METAPHYSES(HP:0003025)	[ARSB(411), PHEX(5251), CLCN5(1184), COMP(1311), VDR(7421), CYP2R1(120227), TRPV4(59341), RMRP(6023), CYP27B1(1594), SLC17A5(26503), MATN3(4148), SLC34A3(142680), DYM(54808), SLC35D1(23169), COL2A1(1280), CASR(846)]
IRREGULAR MUSHROOMED METAPHYSES(HP:0005032)	[COMP(1311)]
IRREGULAR MYELIN FOLDINGS(HP:0006898)	[NEFL(4747)]
IRREGULAR OSSIFICATION AT ANTERIOR RIB ENDS(HP:0006598)	[SBDS(51119)]
IRREGULAR OSSIFICATION OF HAND BONES(HP:0004280)	[PTCH1(5727)]
IRREGULAR OSSIFICATION OF THE HUMERAL EPIPHYSES(HP:0003897)	[DYM(54808)]
IRREGULAR PROXIMAL FEMORAL METAPHYSES(HP:0003411)	[TRPV4(59341)]
IRREGULAR SCLEROTIC ENDPLATES(HP:0008476)	[MMP13(4322)]
IRREGULAR VERTEBRAL ENDPLATES(HP:0003301)	[TRAPPC2(6399), COMP(1311), PAPSS2(9060), GNPAT(8443), CHST3(9469), COL2A1(1280), COL9A1(1297), MMP13(4322), EIF2AK3(9451)]
IRREGULAR, LACY ILIAC CRESTS(HP:0008786)	[DYM(54808)]
IRREGULAR, RACHITIC-LIKE METAPHYSES(HP:0005042)	[TRPV4(59341)]
IRREGULAR, SMALL, OR ABSENT INCISORS(HP:0006340)	[EVC(2121)]
IRREGULARLY SPACED TEETH(HP:0006316)	[COL5A2(1290), COL5A1(1289), COL1A1(1277)]
IRRITABILITY(HP:0000737)	[PRNP(5621), AMT(275), CPS1(1373), FBP1(2203), DDC(1644), ST3GAL5(8869), MAPT(4137), VDR(7421), AVPR2(554), OTC(5009), SLC16A2(6567), PPT1(5538), PSEN1(5663), GLDC(2731), CYP27B1(1594), CLN8(2055), HLCS(3141), TK2(7084), PAH(5053), TCN2(6948), SLC39A4(55630), ASS1(445), ARG1(383), ASL(435), GCSH(2653), ACOX1(51), ASAH1(427), AQP2(359), JPH3(57338), ALPL(249)]
ISCHEMIC STROKE(HP:0002140)	[ENG(2022), ACVRL1(94)]
ISLET CELL HYPERPLASIA, DIFFUSE(HP:0001736)	[KCNJ11(3767), ABCC8(6833), SLC16A1(6566)]
ISLETS OF LANGERHANS HYPERPLASIA(HP:0004510)	[LBR(3930), FAH(2184), KCNJ11(3767), GPC3(2719), INSR(3643), ABCC8(6833), SLC16A1(6566)]
ISOLATED ABSENCE OF CD8+ T CELLS(HP:0005422)	[CD8A(925)]
ISOLATED ABSENCE OF PAIN SENSATION(HP:0003404)	[SCN9A(6335)]
ISOLATED CASES(HP:0001420)	[FBN1(2200), TINF2(26277), GATA1(2623), ANCR(282), NSD1(64324), MAPT(4137), H19(283120), BRAF(673), DCR(1637), FLNB(2317), MAP2K1(5604), MAP2K2(5605), ALX3(257), HRAS(3265), KIT(3815), CDKL5(6792), STK11(6794), TSHR(7253), IRF6(3664), GNASAS(149775), PTEN(5728), TSC1(7248), GJA1(2697), RAI1(10743), ACTA1(58), STX16(8675), WHCR(7467), SNRPN(6638), CDK4(1019), EHMT1(79813), WHSC1(7468), TNFRSF13B(23495), MECP2(4204), PDGFRA(5156), PSEN1(5663), NDN(4692), NME1(4830), NLGN4X(57502), UBE3A(7337), LMNB2(84823), GNAS(2778), SMCR(6600), PCSK1(5122), KRAS(3845), NIPBL(25836), SEMA3E(9723), JAK2(3717), HOXD13(3239), RB1(5925), CHD7(55636)]
ISOLATED ECTOPIA LENTIS(HP:0007637)	[FBN1(2200)]
ISOLATED FOCAL DYSTONIA MAY OCCUR(HP:0007140)	[TOR1A(1861)]
ISOLATED GROWTH HORMONE DEFICIENCY(HP:0000861)	[SHH(6469), BTK(695), GH1(2688)]
ISOLATED HYPOGONADOTROPIC HYPOGONADISM(HP:0008224)	[KISS1R(84634), PROK2(60675), FGFR1(2260), NELF(26012), TAC3(6866), BCS1L(617), CHD7(55636), TACR3(6870)]
ISOLATED PROLACTIN DEFICIENCY(HP:0008202)	[PROP1(5626)]
ISOSEXUAL PRECOCIOUS PUBERTY(HP:0008236)	[KISS1R(84634)]
IVORY AND CONE-SHAPED EPIPHYSES(HP:0006078)	[IHH(3549)]
IVORY EPIPHYSES(HP:0010583)	[ERCC8(1161), ERCC6(2074)]
IVORY EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010234)	[ERCC8(1161), ERCC6(2074)]
J-SHAPED SELLA TURCICA(HP:0002680)	[ADAMTSL2(9719), RMRP(6023), GUSB(2990), TRIM37(4591), SLC17A5(26503), GNPTAB(79158)]
JAPANESE TYPE HEREDITARY SPHEROCYTOSIS(HP:0004816)	[EPB42(2038)]
JAUNDICE(HP:0000952)	[PEX19(5824), ABCD3(5825), CPOX(1371), PEX2(5828), VPS33B(26276), PEX5(5830), CLDN1(9076), ANK1(286), NPC2(10577), TREX1(11277), NPC1(4864), ABCC2(1244), ABCB11(8647), SPTB(6710), SPTA1(6708), GPI(2821), GALE(2582), LYST(1130), PKLR(5313), PEX10(5192), PEX14(5195), PEX13(5194), AKR1D1(6718), PEX1(5189), ETFDH(2110), GALK1(2584), RHAG(6005), ETFB(2109), C10orf2(56652), ETFA(2108), PFKM(5213), BPGM(669), MPV17(4358), ATP8B1(5205), HK1(3098), HBB(3043), AMACR(23600), DGUOK(1716), LPL(4023), SLC4A1(6521), PEX26(55670), G6PD(2539), ALDOB(229), PEX3(8504), ALDOA(226), HBA1(3039), TPI1(7167), CDAN1(146059), UGT1A1(54658), SMPD1(6609)]
JERKY HEAD MOVEMENTS(HP:0006961)	[DLAT(1737)]
JOINT CONTRACTURES(HP:0001372)	[FBN1(2200), BIN1(274), RYR1(6261), GUSB(2990), ERCC2(2068), LMNA(4000), ERCC3(2071), FGFR1(2260), MYH3(4621), SGCB(6443), FGFR2(2263), HSPD1(3329), SGCG(6445), PLP1(5354), COL11A2(1302), ZMPSTE24(10269), MTM1(4534), SLC16A2(6567), MED12(9968), ITGB4(3691), COL7A1(1294), NSDHL(50814), PMM2(5373), FUCA1(2517), POMT1(10585), NEB(4703), SEPN1(57190), NOD2(64127), UBA1(7317), TNNI2(7136), PEX7(5191), TNNT3(7140), LAMA2(3908), GTF2H5(404672), ARX(170302), ANTXR2(118429), MMP2(4313), TPM2(7169), CHST3(9469), SLC12A6(9990), ITGA6(3655)]
JOINT CONTRACTURES INVOLVING THE JOINTS OF THE HAND(HP:0009473)	[FBN1(2200), FBN2(2201), ABCD3(5825), PEX2(5828), LARGE(9215), TBX15(6913), TGFBR1(7046), CCBE1(147372), MYH3(4621), NSD1(64324), ERCC6(2074), GLI3(2737), ITGB4(3691), ALX3(257), CRLF1(9244), LAMB3(3914), NOD2(64127), LAMC2(3918), UROS(7390), ROR2(4920), LAMA3(3909), GJA1(2697), CHRNG(1146), POR(5447), RAB23(51715), HSPG2(3339), CD96(10225), COL17A1(1308), RAPSN(5913), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), MED12(9968), CDH3(1001), DHCR24(1718), L1CAM(3897), DYM(54808), PQBP1(10084), ADAMTSL2(9719), ALG3(10195), TNNI2(7136), TP63(8626), WISP3(8838), TNNT3(7140), LIFR(3977), HOXD13(3239), MMP2(4313), FAM123B(139285), IGHMBP2(3508), DOK7(285489), TPM2(7169), CHST3(9469)]
JOINT CONTRACTURES LATE(HP:0001381)	[SGCB(6443)]
JOINT CONTRACTURES OF THE 5TH FINGER(HP:0009183)	[HOXD13(3239), GJA1(2697)]
JOINT CONTRACTURES OF THE THUMB(HP:0009600)	[L1CAM(3897)]
JOINT CONTRACTURES, ONSET SCHOOL AGE(HP:0005660)	[CHST3(9469)]
JOINT CONTRACTURES, PROGRESSIVE(HP:0005876)	[ANTXR2(118429)]
JOINT DISLOCATION(HP:0001373)	[PLOD1(5351), ATR(545), MYH3(4621), GLRB(2743), GLRA1(2741), FLNA(2316), FLNB(2317), GLI3(2737), SOX9(6662), MYH8(4626), NSDHL(50814), GNPTAB(79158), CHRNA1(1134), LAMB1(3912), DDR2(4921), GJA1(2697), CHRNG(1146), CHRND(1144), COL1A2(1278), SLC6A5(9152), RECQL4(9401), ACTA1(58), ZNF469(84627), COL1A1(1277), MKKS(8195), HSPG2(3339), WHCR(7467), CD96(10225), RYR1(6261), WHSC1(7468), GDF5(8200), OCRL(4952), EYA1(2138), GPHN(10243), COL6A1(1291), COL6A2(1292), HOXA11(3207), COL6A3(1293), COL2A1(1280), COL3A1(1281), WNT7A(7476), TNXB(7148), PORCN(64840), NIPBL(25836), EIF2AK3(9451), OFD1(8481), ATP6V0A2(23545), TPM2(7169), CHST3(9469)]
JOINT DISLOCATIONS IN YOUNG ADULT(HP:0005837)	[CHST3(9469)]
JOINT HEMORRHAGE(HP:0005261)	[VWF(7450), WAS(7454), F13A1(2162), GGCX(2677), SERPINF2(5345), F9(2158), F10(2159), F8(2157)]
JOINT HYPERMOBILITY(HP:0001382)	[FBN1(2200), RET(5979), PLOD1(5351), EP300(2033), NPR2(4882), EFEMP2(30008), RPS6KA3(6197), GATA1(2623), TGFBR1(7046), NSD1(64324), BRAF(673), B4GALT7(11285), MTM1(4534), DCR(1637), FLNB(2317), MAP2K1(5604), MAP2K2(5605), HRAS(3265), MYH7(4625), UBR1(197131), FMR1(2332), GLB1(2720), CANT1(124583), AGA(175), SEC23A(10484), GALNS(2588), LRP5(4041), PTEN(5728), B3GALTL(145173), SLC6A8(6535), GJA1(2697), CREBBP(1387), COL1A2(1278), ATP7B(540), ZNF469(84627), COL1A1(1277), ATP7A(538), ADAMTS2(9509), RYR1(6261), COMP(1311), FGFR3(2261), LOX(4015), OCRL(4952), COL11A1(1301), MED12(9968), COL5A2(1290), SLC26A2(1836), RMRP(6023), COL6A1(1291), CUL4B(8450), COL5A1(1289), FBLN5(10516), COL6A2(1292), COL6A3(1293), KCNJ2(3759), COL3A1(1281), ALG3(10195), VPS13B(157680), STAT3(6774), TNXB(7148), PORCN(64840), KRAS(3845), EFNB1(1947), CUL7(9820), SMS(6611), LEPRE1(64175)]
JOINT LAXITY(HP:0001388)	[FBN1(2200), RET(5979), PLOD1(5351), COMP(1311), NPR2(4882), EFEMP2(30008), GATA1(2623), TGFBR1(7046), NSD1(64324), LOX(4015), B4GALT7(11285), DCR(1637), FLNB(2317), MED12(9968), RMRP(6023), CUL4B(8450), COL5A1(1289), FBLN5(10516), KCNJ2(3759), UBR1(197131), FMR1(2332), GLB1(2720), CANT1(124583), AGA(175), SEC23A(10484), GALNS(2588), PORCN(64840), B3GALTL(145173), EFNB1(1947), COL1A2(1278), ZNF469(84627), LEPRE1(64175), ADAMTS2(9509), ATP7A(538)]
JOINT LAXITY, MILD(HP:0002771)	[RMRP(6023)]
JOINT STIFFNESS(HP:0001387)	[FBN1(2200), ARSB(411), HGSNAT(138050), LMNA(4000), WISP3(8838), SGSH(6448), GNS(2799), LEMD3(23592), ADAMTS10(81794), TPM2(7169), RECQL4(9401), COL2A1(1280), NAGLU(4669), PRG4(10216), GLB1(2720)]
JOINT SWELLING(HP:0001386)	[MED12(9968), WISP3(8838)]
JOINT SWELLING ONSET LATE INFANCY(HP:0005833)	[MED12(9968)]
JUVENILE CATARACTS(HP:0001118)	[CYP27A1(1593), RECQL4(9401), NF2(4771)]
JUVENILE CORTICAL CATARACT(HP:0007876)	[NF2(4771)]
JUVENILE EPITHELIAL CORNEAL DYSTROPHY(HP:0007755)	[KRT3(3850), TGFBI(7045), KRT12(3859)]
JUVENILE GASTROINTESTINAL POLYPOSIS(HP:0004784)	[APC(324), SMAD4(4089)]
JUVENILE NEPHRONOPHTHISIS(HP:0004748)	[NPHP1(4867)]
JUVENILE ONSET(HP:0003621)	[ARSA(410), NDUFV1(4723), ALS2(57679), SETX(23064), GFAP(2670), UMOD(7369), BFSP2(8419), SPTBN2(6712), CTNS(1497)]
JUVENILE POSTERIOR SUBCAPSULAR LENTICULAR OPACITIES(HP:0007935)	[NF2(4771)]
JUVENILE ZONULAR CATARACTS(HP:0007713)	[RECQL4(9401)]
KERATITIS(HP:0000491)	[IKBKG(8517), DDB2(1643), ERCC2(2068), XPC(7508), ERCC6(2074), XPA(7507), POLH(5429)]
KERATOCONJUNCTIVITIS(HP:0001096)	[AIRE(326), GJB2(2706)]
KERATOCONJUNCTIVITIS SICCA(HP:0001097)	[GJB2(2706)]
KERATOCONUS(HP:0000563)	[FBN2(2201), PLOD1(5351), GUCY2D(3000), RPE65(6121), ZNF469(84627), COL3A1(1281), LMX1B(4010), VSX1(30813)]
KERATOCYSTS OF THE JAW(HP:0010603)	[PTCH1(5727)]
KERATOGLOBUS(HP:0001119)	[ZNF469(84627)]
KERNICTERUS(HP:0001343)	[UGT1A1(54658)]
KETOACIDOSIS(HP:0001993)	[INS(3630), KCNJ11(3767), GCK(2645), ACAT1(38), OXCT1(5019), IVD(3712), MCCC2(64087), PAX4(5078), ABCC8(6833)]
KETOACIDOSIS, EPISODIC(HP:0005974)	[ACAT1(38)]
KETONEMIA(HP:0003543)	[SLC37A4(2542), SLC17A3(10786), GCDH(2639)]
KETONURIA(HP:0002919)	[MMAB(326625), OXCT1(5019), MCEE(84693), MCCC1(56922), GCDH(2639)]
KETOSIS(HP:0001946)	[KCNJ11(3767), FBP1(2203), MMAB(326625), SLC37A4(2542), GCK(2645), OXCT1(5019), ACAT1(38), MMAA(166785), MCCC2(64087), DLD(1738), PAX4(5078), ABCC8(6833), INS(3630), PCCB(5096), BCKDHA(593), BCKDHB(594), DBT(1629), IVD(3712), SLC17A3(10786), MLYCD(23417), GCDH(2639), PCCA(5095)]
KIDNEY CANCER(HP:0005933)	[FH(2271), DIRC2(84925), FLCN(201163), HNF1A(6927), SDHB(6390), NSD1(64324), CDC73(79577), CDKN1C(1028), BRCA2(675), H19(283120), CDKN2A(1029), RNF139(11236), KCNQ1OT1(10984), TRIM37(4591), BUB1B(701), HRAS(3265), PRCC(5546), FN1(2335), GPC3(2719), TSC1(7248), WT2(7491), TSC2(7249), WT1(7490), VHL(7428), CCND1(595), OGG1(4968), TP53(7157)]
KIDNEY MALFORMATION(HP:0000792)	[HNF1B(6928), SMCR(6600), FGFR1(2260), FANCD2(2177), FANCA(2175), FANCC(2176), RAI1(10743), FGFR2(2263), FANCE(2178)]
KIDNEY STONES(HP:0000787)	[CLDN19(149461), SLC6A20(54716), PRPS1(5631), CDC73(79577), SLC6A19(340024), CTNS(1497), PRPS2(5634), GPHN(10243), SLC3A1(6519), HNF1B(6928), SLC36A2(153201), MOCS2(4338), MOCS1(4337), HPRT1(3251), CLCN5(1184), SLC37A4(2542), GRHPR(9380), XDH(7498), G6PC(2538), AIP(9049), ATP6V1B1(525), SI(6476), SLC7A9(11136), CLDN16(10686), SLC22A12(116085), AGXT(189), SLC34A3(142680), PLG(5340), ATP7B(540), CASR(846)]
KLEBSIELLA INFECTIONS(HP:0002742)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
KNEE AND ANKLE CLONUS(HP:0002541)	[SPG20(23111), SPG11(80208), KIF5A(3798)]
KNEE AND ANKLE CONTRACTURES(HP:0004985)	[FLNA(2316)]
KNEE CONTRACTURES(HP:0002978)	[ESCO2(157570), FBN2(2201), TPM2(7169), MYH3(4621), ERCC6(2074), PTH1R(5745), CPT2(1376), DDR2(4921), DPM1(8813), LIFR(3977), FLNA(2316), GJB2(2706)]
KNEE OSTEOARTHRITIS(HP:0005086)	[COL9A2(1298)]
KOILONYCHIA(HP:0001598)	[EDA(1896), TRPS1(7227), HRAS(3265), MSX1(4487), LMX1B(4010)]
KYPHOSCOLIOSIS(HP:0002751)	[FBN1(2200), CTDP1(9150), HSPG2(3339), FBN2(2201), RYR1(6261), ATRX(546), LMNA(4000), MYH3(4621), MAPT(4137), ERCC6(2074), FLNA(2316), ZMPSTE24(10269), PTPN11(5781), SLC26A2(1836), IKBKG(8517), EGR2(1959), SOX9(6662), SOS1(6654), PAPSS2(9060), CRLF1(9244), COL2A1(1280), GDAP1(54332), CBS(875), GNPTAB(79158), SBF2(81846), WISP3(8838), PEX7(5191), LRP5(4041), PTEN(5728), LAMA2(3908), PRX(57716), TRPV4(59341), MPZ(4359), MMP2(4313), CHST3(9469), PMP22(5376), SMS(6611), RAB3GAP1(22930), MGAT2(4247), ACTB(60)]
KYPHOSIS(HP:0002808)	[FBN1(2200), FKRP(79147), FBN2(2201), RET(5979), GUSB(2990), NPR2(4882), ATRX(546), MYH3(4621), NSD1(64324), MAPT(4137), IKBKG(8517), PDE11A(50940), PAPSS2(9060), CRLF1(9244), PPIB(5479), GNPTAB(79158), CANT1(124583), GLB1(2720), SBF2(81846), AIP(9049), LRP5(4041), PEX7(5191), PTEN(5728), MPZ(4359), CHRNG(1146), SIL1(64374), MAN2B1(4125), TOR1A(1861), ATP7A(538), ACTB(60), TRAPPC2(6399), SNRPN(6638), UPF3B(65109), COMP(1311), LMNA(4000), FGFR3(2261), OCRL(4952), MECP2(4204), SLC26A2(1836), COL6A1(1291), CUL4B(8450), SOS1(6654), PHF6(84295), NDN(4692), COL6A2(1292), COL6A3(1293), COL2A1(1280), CBS(875), FOXC2(2303), VPS13B(157680), TBX5(6910), ABCC6(368), RUNX2(860), TRPV4(59341), FAM123B(139285), ALMS1(7840), MOGS(7841), GNPTG(84572), PMP22(5376), SMS(6611), PLOD1(5351), RPS6KA3(6197), ERCC6(2074), FLNA(2316), FLNB(2317), IDS(3423), SOX9(6662), PMM2(5373), AGA(175), GALNS(2588), LAMA2(3908), PRX(57716), PRKAR1A(5573), COL1A2(1278), COL1A1(1277), RAB3GAP1(22930), MGAT2(4247), CTDP1(9150), HSPG2(3339), WHCR(7467), RYR1(6261), WHSC1(7468), ERCC8(1161), ZMPSTE24(10269), PTPN11(5781), HGD(3081), EGR2(1959), L1CAM(3897), DYM(54808), GDAP1(54332), SMARCAL1(50485), WISP3(8838), TFAP2A(7020), ALDH3A2(224), MMP2(4313), CHST3(9469), LEPRE1(64175)]
LABIAL HYPERTROPHY(HP:0000065)	[BSCL2(26580), ESCO2(157570), LMNA(4000), AGPAT2(10555)]
LABIAL HYPOPLASIA(HP:0000066)	[SNRPN(6638), TP63(8626), FGFR1(2260), PORCN(64840), IRF6(3664), B3GALTL(145173), FGFR2(2263), ROR2(4920), NIPBL(25836), SEMA3E(9723), NDN(4692), POR(5447), CHD7(55636)]
LABIAL PSEUDOHYPERTROPHY(HP:0008739)	[LMNA(4000)]
LACK OF DELAYED SKIN HYPERSENSITIVITY REACTION(HP:0005427)	[RFX5(5993), RFXAP(5994), RFXANK(8625), CIITA(4261)]
LACK OF INSIGHT(HP:0000757)	[CHMP2B(25978), TREM2(54209), TBP(6908), TYROBP(7305)]
LACK OF LANGUAGE DEVELOPMENT(HP:0006798)	[MECP2(4204), MCOLN1(57192)]
LACK OF MOTIVATION(HP:0000745)	[PSEN1(5663), MAPT(4137)]
LACK OF PEER RELATIONSHIPS(HP:0002332)	[NLGN4X(57502)]
LACK OF SPONTANEOUS PLAY(HP:0000721)	[NLGN4X(57502)]
LACK OF SUBCUTANEOUS FATTY TISSUE(HP:0007519)	[GTF2H5(404672), ERCC2(2068), ERCC3(2071)]
LACRIMAL DUCT APLASIA OR STENOSIS(HP:0007925)	[EYA1(2138)]
LACRIMAL DUCT ATRESIA(HP:0000564)	[TP63(8626)]
LACRIMAL GLAND APLASIA/HYPOPLASIA(HP:0007656)	[FGF10(2255)]
LACRIMATION ABNORMALITY(HP:0000632)	[NOP10(55505), AAAS(8086), IKBKAP(8518), FGF10(2255), SCN9A(6335), ERCC8(1161), FGFR3(2261), DKC1(1736), NHP2(55651), ERCC6(2074), EYA1(2138)]
LACTIC ACIDEMIA(HP:0003128)	[SUCLG1(8802), NDUFAF2(91942), COX15(1355), COQ2(27235), UQCRQ(27089), TYMP(1890), UQCRB(7381), TK2(7084), NDUFAF3(25915), LRPPRC(10128), DLAT(1737), DLD(1738), SURF1(6834), C10orf2(56652), SCO2(9997), C20orf7(79133), DBT(1629), MPV17(4358), PUS1(80324), PDHX(8050), MRPS16(51021), ETHE1(23474), ISCU(23479), NDUFS7(374291), PDHA1(5160), FH(2271), SDHA(6389), BCS1L(617), POLG(5428), TSFM(10102), PDP1(54704), PDSS2(57107), DGUOK(1716), SLC17A3(10786), NDUFA1(4694), NDUFA2(4695), PDSS1(23590), C8orf38(137682), COQ9(57017), SLC37A4(2542), COX6B1(1340), G6PC(2538), ALDOB(229), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), TAZ(6901), PCCB(5096), BCKDHA(593), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), HADHB(3032), BCKDHB(594), NDUFS6(4726), NDUFS4(4724), FASTKD2(22868), OGDH(4967), APTX(54840), NDUFS8(4728), PC(5091), HADHA(3030), SDHAF1(644096), MLYCD(23417), HSD17B10(3028), PCCA(5095), CABC1(56997)]
LACTIC ACIDOSIS MAY OCCUR WITH STRESS OR INFECTION(HP:0004897)	[SDHA(6389), SDHAF1(644096)]
LACTIC ACIDOSIS, CHRONIC(HP:0004925)	[PDHA1(5160)]
LACTIC ACIDOSIS, MAY BE MILD(HP:0005960)	[DLAT(1737)]
LACTIC ACIDOSIS, SEVERE(HP:0004900)	[PDHA1(5160)]
LACTICACIDURIA(HP:0003648)	[HADHA(3030)]
LACTOSE INTOLERANCE(HP:0004789)	[MCM6(4175)]
LAMBDOIDAL CRANIOSYNOSTOSIS(HP:0004443)	[FGFR1(2260), RECQL4(9401), FGFR2(2263), RAB23(51715)]
LAMELLAR CATARACT(HP:0007971)	[CRYBA1(1411), HSF4(3299)]
LANGUAGE DELAY(HP:0002336)	[GALE(2582), ATP6AP2(10159), BTK(695), NSD1(64324), FOXP2(93986), ALDH5A1(7915), SLC6A8(6535), NIPBL(25836)]
LANGUAGE IMPAIRMENT(HP:0002463)	[PSEN1(5663), MAPT(4137)]
LARGE BASAL GANGLIA(HP:0007048)	[ATR(545)]
LARGE CAFE AU LAIT SPOTS WITHIN IRREGULAR MARGINS(HP:0005605)	[GNAS(2778)]
LARGE CLUMPS OF PIGMENT IRREGULARLY DISTRIBUTED ALONG HAIR SHAFT(HP:0004527)	[MLPH(79083)]
LARGE CORPUS CALLOSUM(HP:0006805)	[VPS13B(157680)]
LARGE DISTAL FEMORAL EPIPHYSES(HP:0006438)	[IHH(3549)]
LARGE EARS(HP:0000400)	[TRPS1(7227), INSR(3643), NSD1(64324), NBN(4683), MGP(4256), MECP2(4204), FLNA(2316), SLC16A2(6567), PHF6(84295), KCNJ1(3758), PMM2(5373), PQBP1(10084), FMR1(2332), CHRNA1(1134), BMP4(652), SALL1(6299), ALG3(10195), OPHN1(4983), MMACHC(25974), SLC9A6(10479), KDM5C(8242), CHRNE(1145), CHRND(1144), SLC12A6(9990), RAB3GAP1(22930), MAN2B1(4125), MGAT2(4247)]
LARGE EYES(HP:0001090)	[ARX(170302), GUCY2D(3000), SH3PXD2B(285590), KCNJ1(3758), RPE65(6121), FLNB(2317)]
LARGE FEET(HP:0001833)	[BSCL2(26580), INSR(3643), AGPAT2(10555), NSD1(64324), FLNA(2316)]
LARGE FONTANELLES(HP:0000239)	[PEX19(5824), ABCD3(5825), PEX2(5828), PEX5(5830), NSD1(64324), VDR(7421), MVK(4598), HSD17B4(3295), FGFR2(2263), CDKN1C(1028), H19(283120), ACE(1636), REN(5972), ZMPSTE24(10269), CYP2R1(120227), KCNQ1OT1(10984), CYP27B1(1594), PEX26(55670), HPGD(3248), ALG1(56052), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), MSX2(4488), AGTR1(185), HOXD13(3239), FAM123B(139285), GNPAT(8443), ALPL(249), SLC34A3(142680), COL1A1(1277), AGT(183), PAX8(7849)]
LARGE FOR GESTATIONAL AGE(HP:0001520)	[KCNJ11(3767), ABCC8(6833)]
LARGE FORAMEN MAGNUM(HP:0002700)	[EP300(2033), CREBBP(1387), FLNA(2316), RUNX2(860)]
LARGE FOREHEAD(HP:0002003)	[FMR1(2332)]
LARGE HANDS(HP:0001176)	[BSCL2(26580), KDM5C(8242), INSR(3643), AGPAT2(10555), NSD1(64324), SMS(6611)]
LARGE POSTERIOR FONTANELLE(HP:0004491)	[PAX8(7849)]
LARGE TARSAL BONES(HP:0004679)	[COL11A2(1302)]
LARGE VACUOLATED FOAM CELLS ('NP CELLS') ON BONE MARROW BIOPSY(HP:0001979)	[LIPA(3988), NEU1(4758), SMPD1(6609)]
LARGE, DYSPLASTIC EARS(HP:0000401)	[NBN(4683), MGAT2(4247)]
LARGE, FLOPPY EARS(HP:0000386)	[MMACHC(25974)]
LARGE, LATE-CLOSING FONTANELLE(HP:0004473)	[FGFR2(2263)]
LARGE, PROMINENT EARS(HP:0000382)	[TRPS1(7227), MGP(4256)]
LARYNGEAL ATRESIA(HP:0008750)	[FRAS1(80144), FREM2(341640)]
LARYNGEAL CALCIFICATIONS(HP:0008754)	[LBR(3930), PTH1R(5745)]
LARYNGEAL CLEFT(HP:0008751)	[GLI3(2737)]
LARYNGEAL STENOSIS(HP:0001602)	[FRAS1(80144), HOXD13(3239), FREM2(341640), FLNB(2317)]
LARYNGEAL STRIDOR(HP:0006511)	[GBA(2629), TSPYL1(7259)]
LARYNGOMALACIA(HP:0001601)	[VPS13B(157680), POR(5447)]
LARYNGOTRACHEAL STENOSIS(HP:0004894)	[SLC26A2(1836)]
LATE ONSET(HP:0003584)	[SH3TC2(79628), ATP1A3(478), PLA2G6(8398), ERCC2(2068), APOE(348), POLG(5428), PAX4(5078), CTNS(1497), EIF2B2(8892), EIF2B5(8893), TTR(7276), PSEN1(5663), MYH7(4625), EIF2B4(8890), HNF1B(6928), FLT4(2324), EIF2B3(8891), BEAN(146227), EIF2B1(1967), HCRT(3060), AKT2(208), ADA(100), MFN2(9927), GCK(2645), NLRP3(114548), MMACHC(25974), ABCC8(6833), C10orf2(56652), NR0B1(190), CTSC(1075), GAA(2548), LDB3(11155)]
LATE ONSET CONGENITAL GLAUCOMA(HP:0008041)	[CYP1B1(1545)]
LATE OSSIFYING EPIPHYSES(HP:0002663)	[CLCN5(1184), COMP(1311), CYP27B1(1594), PAPSS2(9060), SLC34A3(142680), COL9A3(1299), VDR(7421), COL2A1(1280), CYP2R1(120227)]
LATE-ONSET SPEECH DEVELOPMENT(HP:0007004)	[DGCR(1714), TBX1(6899)]
LATE-ONSET SPINOCEREBELLAR DEGENERATION(HP:0006904)	[GCLC(2729)]
LATERAL DISPLACEMENT OF PATELLAE(HP:0006397)	[RAB23(51715)]
LATERAL VENTRICLE DILATATION(HP:0006945)	[NSD1(64324)]
LATERALLY CURVED EYEBROWS(HP:0007733)	[BCOR(54880)]
LATERALLY DISPLACED FEMORAL HEADS(HP:0006453)	[SMARCAL1(50485)]
LATTICE CORNEAL DYSTROPHY(HP:0001149)	[OSMR(9180), GSN(2934), TGFBI(7045)]
LEARNING DISABILITY(HP:0001328)	[SLC25A15(10166), MYCN(4613), MKKS(8195), SNRPN(6638), BBS5(129880), TRIM32(22954), ARL6(84100), CEP290(80184), BBS12(166379), PDSS2(57107), THRB(7068), NDN(4692), SOX2(6657), DGCR(1714), SLC2A1(6513), NF1(4763), SBDS(51119), COQ2(27235), KCNJ2(3759), PDSS1(23590), SYN1(6853), GNPTAB(79158), BBS9(27241), TTC8(123016), FMR1(2332), SHH(6469), COQ9(57017), SPG11(80208), BBS1(582), BBS2(583), IL1RAPL1(11141), TBX1(6899), BBS4(585), BLM(641), BBS10(79738), MKS1(54903), BBS7(55212), APTX(54840), JAG1(182), TUBB2B(347733), CABC1(56997)]
LEFT ANTERIOR OR POSTERIOR HEMIBLOCK(HP:0005172)	[SCN5A(6331)]
LEFT VENTRICULAR ABNORMALITY(HP:0001711)	[GLA(2717), FKRP(79147), MKKS(8195), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), AIP(9049), ARL6(84100), BBS4(585), CEP290(80184), BBS12(166379), SSTR5(6755), BBS10(79738), MKS1(54903), BBS7(55212), BBS9(27241), TTC8(123016)]
LEFT VENTRICULAR HYPERTROPHY(HP:0001712)	[GLA(2717), MKKS(8195), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), AIP(9049), ARL6(84100), BBS4(585), CEP290(80184), BBS12(166379), SSTR5(6755), BBS10(79738), MKS1(54903), BBS7(55212), BBS9(27241), TTC8(123016)]
LEFT VENTRICULAR SEPTAL HYPERTROPHY(HP:0005144)	[GLA(2717)]
LEFT VENTRICULAR WALL HYPERTROPHY(HP:0005171)	[GLA(2717)]
LENS DISLOCATION(HP:0000665)	[FBN1(2200), ADAMTSL4(54507), FBN2(2201), PORCN(64840), COL11A1(1301), COL5A2(1290), TAP1(6890), TAP2(6891), GPHN(10243), COL5A1(1289), TAPBP(6892), ADAMTS10(81794), AASS(10157), CBS(875), COL1A1(1277), SUOX(6821), MOCS2(4338), MOCS1(4337)]
LENTICONUS(HP:0001142)	[LAMB2(3913), COL4A5(1287)]
LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413)	[NDUFS7(374291), PDHA1(5160), LRPPRC(10128), SDHA(6389), DLD(1738), BCS1L(617), SURF1(6834), NDUFS3(4722), NDUFV1(4723), COX15(1355), NDUFS4(4724), NDUFA2(4695), NDUFS8(4728), C8orf38(137682)]
LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405)	[NDUFS7(374291), PDHA1(5160), LRPPRC(10128), SDHA(6389), DLD(1738), BCS1L(617), SURF1(6834), NDUFS3(4722), NDUFV1(4723), COX15(1355), NDUFS4(4724), NDUFA2(4695), NDUFS8(4728), C8orf38(137682)]
LESSER TROCHANTER HYPOPLASIA(HP:0008801)	[TBX4(9496)]
LESTER'S SIGN(HP:0009781)	[LMX1B(4010)]
LETHAL MICROMELIC DWARFISM(HP:0003506)	[FGFR3(2261)]
LETHAL SKELETAL DYSPLASIA(HP:0005716)	[LBR(3930)]
LETHARGY(HP:0001254)	[AMT(275), CPT1A(1374), BTD(686), CPS1(1373), FBP1(2203), MMAA(166785), MMADHC(27249), NAGS(162417), NDUFAF2(91942), OTC(5009), MCCC1(56922), SLC22A5(6584), GLDC(2731), HLCS(3141), ACADM(34), ACADS(35), TCN2(6948), NDUFAF3(25915), ASS1(445), ACADSB(36), ACADVL(37), DLD(1738), ASL(435), C20orf7(79133), DBT(1629), MRPS16(51021), CPT2(1376), PDHA1(5160), LMBRD1(55788), MUT(4594), EIF2B2(8892), EIF2B5(8893), SLC2A1(6513), NDUFA1(4694), EIF2B4(8890), EIF2B3(8891), EIF2B1(1967), MMAB(326625), NDUFA11(126328), NDUFAF4(29078), GCSH(2653), NDUFS1(4719), MMACHC(25974), BCKDHA(593), PCCB(5096), NDUFV1(4723), DPYS(1807), NDUFS2(4720), BCKDHB(594), NDUFS6(4726), IVD(3712), MTRR(4552), NDUFS4(4724), PAX8(7849), PCCA(5095)]
LEUKEMIA(HP:0001909)	[EP300(2033), LYL1(4066), GATA1(2623), NSD1(64324), DCR(1637), FLT3(2322), NPM1(4869), BUB1B(701), KIT(3815), THPO(7066), MLLT10(8028), SH3GL1(6455), ABL1(25), FANCD2(2177), FANCC(2176), FANCE(2178), NUP214(8021), MSH6(2956), TLX1(3195), PICALM(8301), DKC1(1736), BLM(641), TRA@(6955), AMLCR2(9163), MPL(4352), ELANE(1991), CREBBP(1387), WHSC1L1(54904), ARHGEF12(23365), PBX1(5087), RARA(5914), ATM(472), MYB(4602), BCR(613), PDGFRB(5159), CDKN2A(1029), CEBPA(1050), SBDS(51119), POLA1(5422), MOS(4342), ETV6(2120), LPP(4026), FES(2242), MSH2(4436), MLL(4297), MLH1(4292), FANCA(2175), PMS2(5395), RUNX1(861), GMPS(8833), MCL1(4170), MLF1(4291), JAK2(3717), BCL2(596), TCL1A(8115), RB1(5925), BCL3(602), TAL1(6886), TP53(7157)]
LEUKOCORIA(HP:0000555)	[TINF2(26277), RB1(5925)]
LEUKOCYTE GRANULATION ABNORMALITY(HP:0008264)	[SUMF1(285362)]
LEUKOCYTE INCLUSION BODIES (DOHLE-LIKE BODIES)(HP:0001932)	[MYH9(4627)]
LEUKOCYTOSIS(HP:0001974)	[JAK2(3717), IKBKG(8517), ITGB2(3689), MEFV(4210), SALL4(57167), MVK(4598)]
LEUKODYSTROPHY(HP:0002415)	[LMNB1(4001), NDUFAF3(25915), NDUFA11(126328), GJC2(57165), HSPD1(3329), NDUFAF4(29078), NDUFS1(4719), NDUFAF2(91942), EDNRB(1910), PSAP(5660), ACOX1(51), NDUFV1(4723), SOX10(6663), NDUFS2(4720), ABAT(18), C20orf7(79133), NDUFS6(4726), NDUFS4(4724), NDUFA1(4694), FAM126A(84668)]
LEUKOENCEPHALOPATHY(HP:0002352)	[AUH(549), LMNB1(4001), SPG11(80208), ZIC4(84107), OCRL(4952), SDHA(6389), POLG(5428), EIF2B2(8892), EIF2B5(8893), MLC1(23209), ZIC1(7545), EIF2B4(8890), MAPK10(5602), EIF2B3(8891), TREX1(11277), TREM2(54209), COL4A1(1282), TYROBP(7305), RPIA(22934), EIF2B1(1967), TYMP(1890), PC(5091), NOTCH3(4854), SDHAF1(644096)]
LEUKOENCEPHALOPATHY, DIFFUSE(HP:0006994)	[LMNB1(4001)]
LEUKOENCEPHALOPATHY, PROGRESSIVE(HP:0006980)	[SDHA(6389), SDHAF1(644096)]
LEUKOENCEPHALOPATHY, SEVERE(HP:0007073)	[EIF2B2(8892), EIF2B5(8893), EIF2B4(8890), EIF2B3(8891), EIF2B1(1967)]
LEUKONYCHIA(HP:0001820)	[TRPS1(7227), GJB2(2706)]
LEUKOPENIA(HP:0001882)	[TNFSF11(8600), AK2(204), TBXAS1(6916), MMAA(166785), TINF2(26277), SH2D1A(4068), ATR(545), NHP2(55651), LMBRD1(55788), MUT(4594), SLC7A7(9056), HOXA11(3207), SBDS(51119), FANCD2(2177), FANCC(2176), FANCE(2178), TCIRG1(10312), NOP10(55505), TCN2(6948), MMAB(326625), VPS13B(157680), LYST(1130), TERC(7012), TERT(7015), FANCA(2175), DKC1(1736), PSTPIP1(9051), PCCB(5096), MPL(4352), IVD(3712), GBA(2629), PCCA(5095)]
LEYDIG CELL INSENSITIVITY TO GONADOTROPIN(HP:0002929)	[KAL1(3730)]
LIFELONG REDUCED VISUAL ACUITY, LEGAL BLINDNESS TO LOW VISION(HP:0007640)	[BLOC1S3(388552), HPS3(84343), HPS4(89781), HPS5(11234), HPS1(3257), HPS6(79803), DTNBP1(84062)]
LIGAMENTOUS LAXITY(HP:0001380)	[RYR1(6261), COMP(1311)]
LIGHT COLORED HAIR(HP:0002286)	[PAH(5053), RMRP(6023), CDKL5(6792), AP3B1(8546), SLC17A5(26503), UROC1(131669), LPAR6(10161), TP63(8626), ANCR(282), MECP2(4204), UBE3A(7337)]
LIMB AND TRUNCAL ATAXIA(HP:0007014)	[ABCD1(215)]
LIMB ATAXIA(HP:0002070)	[PRNP(5621), TBP(6908), SETX(23064), POLG(5428), SPTBN2(6712), FGF14(2259), KCNC3(3748), ATXN3(4287), ATXN10(25814), BEAN(146227), APTX(54840), ATXN2(6311), MAN2B1(4125)]
LIMB CONTRACTURES(HP:0003121)	[INS(3630), KCNJ11(3767), GCK(2645), ARX(170302), ACTA1(58), NAGA(4668), ABCC8(6833)]
LIMB CONTRACTURES BY AGE 4-5 YEARS(HP:0005839)	[NAGA(4668)]
LIMB DYSMETRIA(HP:0002406)	[KCNC3(3748)]
LIMB DYSTONIA(HP:0002451)	[TH(7054), DDC(1644), COL4A1(1282), MAPT(4137), THAP1(55145)]
LIMB FASCICULATIONS(HP:0007289)	[SMN1(6606)]
LIMB HYPERTONIA(HP:0002509)	[PCCB(5096), LBR(3930), GCH1(2643), KDM5C(8242), DDC(1644), PCCA(5095)]
LIMB INCOORDINATION(HP:0002276)	[SPTBN2(6712)]
LIMB MUSCLE WEAKNESS(HP:0003690)	[COLQ(8292), TK2(7084), BSCL2(26580), VCP(7415), IGHMBP2(3508), KIF5A(3798), GDAP1(54332), POLG(5428), GARS(2617), C10orf2(56652)]
LIMB PAIN(HP:0009763)	[WNK1(65125), TGFB1(7040)]
LIMB-GIRDLE MUSCLE ATROPHY(HP:0003797)	[TRPV4(59341), FKRP(79147), MYOT(9499), LMNA(4000), TRIM32(22954), CAV3(859), SGCB(6443), GNE(10020), TPM3(7170), SGCA(6442), DES(1674)]
LIMB-GIRDLE MUSCLE WEAKNESS(HP:0003325)	[VCP(7415), FKRP(79147), MYOT(9499), LMNA(4000), TRIM32(22954), SGCA(6442), CRYAB(1410), COL6A1(1291), COL6A2(1292), COL6A3(1293), GNE(10020), MATR3(9782), POMT1(10585), ANO5(203859)]
LIMB-GIRDLE MUSCULAR DYSTROPHY(HP:0006785)	[FKRP(79147), MYOT(9499), LMNA(4000), CAV3(859), SGCB(6443), SGCA(6442)]
LIMBIC MALFORMATIONS(HP:0007343)	[FGFR2(2263)]
LIMITATION OF KNEE MOBILITY(HP:0010501)	[COL2A1(1280)]
LIMITATION OF NECK MOTION(HP:0005986)	[NOG(9241), SEPN1(57190), LMNA(4000), GDF6(392255)]
LIMITED ELBOW AND HIP EXTENSION(HP:0003093)	[COMP(1311), FGFR3(2261)]
LIMITED ELBOW EXTENSION(HP:0001377)	[NPR2(4882), CLCF1(23529), FGFR3(2261), NSD1(64324), FGFR2(2263), MMP13(4322), NIPBL(25836), SUMF1(285362), FLNA(2316), LMX1B(4010), SLC26A2(1836), RMRP(6023), MATN3(4148), CRLF1(9244), GPC6(10082), CHST3(9469), COL2A1(1280), ATP7A(538)]
LIMITED ELBOW FLEXION(HP:0006376)	[SLC26A2(1836), GPC6(10082)]
LIMITED ELBOW FLEXION/EXTENSION(HP:0005060)	[SLC26A2(1836), GPC6(10082), CHST3(9469)]
LIMITED ELBOW MOVEMENT(HP:0002996)	[FBN2(2201), COMP(1311), NPR2(4882), LARGE(9215), LMNA(4000), ATR(545), SALL4(57167), NSD1(64324), FGFR3(2261), FGFR2(2263), ERCC6(2074), MMP13(4322), FLNA(2316), LMX1B(4010), PTPN11(5781), SLC26A2(1836), ESCO2(157570), RMRP(6023), COL6A1(1291), HRAS(3265), HOXA11(3207), MATN3(4148), COL6A2(1292), CRLF1(9244), COL6A3(1293), GPC6(10082), COL2A1(1280), WNT7A(7476), CLCF1(23529), EMD(2010), B3GALTL(145173), DDR2(4921), TFAP2A(7020), NIPBL(25836), SUMF1(285362), GJB2(2706), SHOX(6473), LIFR(3977), TPM2(7169), CHST3(9469), RECQL4(9401), CPT2(1376), ATP7A(538)]
LIMITED EXTRAOCULAR MOVEMENTS(HP:0007941)	[SCO2(9997)]
LIMITED GROSS MOTOR DEVELOPMENT(HP:0007046)	[TNNT1(7138)]
LIMITED HIP ABDUCTION/EXTENSION(HP:0008810)	[CHST3(9469)]
LIMITED HIP MOVEMENT(HP:0008800)	[COMP(1311), FGFR3(2261), COL2A1(1280)]
LIMITED INTERPHALANGEAL MOVEMENT(HP:0006064)	[SALL4(57167)]
LIMITED KNEE EXTENSION(HP:0003066)	[GPC6(10082), NSD1(64324), FLNA(2316), ATP7A(538)]
LIMITED KNEE FLEXION(HP:0006389)	[GPC6(10082), FLNA(2316)]
LIMITED KNEE FLEXION/EXTENSION(HP:0005085)	[GPC6(10082), FLNA(2316)]
LIMITED KNEE MOVEMENT(HP:0005192)	[RECQL4(9401)]
LIMITED MOBILITY OF PROXIMAL INTERPHALANGEAL JOINT(HP:0006217)	[WFS1(7466)]
LIMITED NECK FLEXION(HP:0005991)	[SEPN1(57190)]
LIMITED NECK RANGE OF MOTION(HP:0000466)	[NOG(9241), GDF6(392255)]
LIMITED PRONATION/SUPINATION OF FOREARM(HP:0006394)	[HOXA11(3207)]
LIMITED SHOULDER MOVEMENT(HP:0006467)	[RECQL4(9401)]
LIMITED WRIST MOVEMENT(HP:0006248)	[SALL4(57167)]
LINEAR ARRAYS OF MACULAR HYPERKERATOSES IN FLEXURAL AREAS(HP:0007490)	[POMP(51371)]
LINEAR OR RETICULAR HYPERPIGMENTATION(HP:0007546)	[PORCN(64840)]
LIP ABNORMALITY(HP:0000159)	[MYCN(4613), RET(5979), FKRP(79147), AVP(551), ATRX(546), TGIF1(7050), CCBE1(147372), MYH3(4621), NSD1(64324), HSD17B4(3295), EDARADD(128178), GLI3(2737), EDA(1896), ESCO2(157570), NOG(9241), ALX3(257), HRAS(3265), CRLF1(9244), PTCH1(5727), RPGRIP1L(23322), GNE(10020), GNPTAB(79158), SC5DL(6309), CRTAP(10491), SEC23A(10484), B3GALTL(145173), ROR2(4920), ABCC8(6833), FKTN(2218), RAB3GAP2(25782), AP3B1(8546), GJA1(2697), CHRNG(1146), NAGA(4668), PROKR2(128674), ATP7A(538), ADAMTS2(9509), ACTB(60), KCNJ11(3767), SNRPN(6638), PDHA1(5160), RAPSN(5913), FGFR1(2260), NBN(4683), FGFR2(2263), COL11A1(1301), LMX1B(4010), CUL4B(8450), NDN(4692), GPC6(10082), FGD1(2245), KCNJ2(3759), IGF1R(3480), FUCA1(2517), ACVRL1(94), COL3A1(1281), EDAR(10913), PQBP1(10084), ABHD5(51099), FOXC2(2303), TBCE(6905), POMGNT1(55624), VPS13B(157680), OPHN1(4983), TBX1(6899), TNNI2(7136), PORCN(64840), TNNT3(7140), NIPBL(25836), LIFR(3977), OFD1(8481), KDM5C(8242), FAM123B(139285), DOK7(285489), CUL7(9820), SMS(6611), CHD7(55636), ABCA12(26154), LARGE(9215), RPS6KA3(6197), MGP(4256), ERCC6(2074), BRAF(673), FLNB(2317), MAP2K1(5604), IDS(3423), MAP2K2(5605), MID1(4281), BUB1B(701), ENG(2022), PMM2(5373), POMT1(10585), BMP4(652), AGA(175), BCOR(54880), IRF6(3664), MKS1(54903), MSX2(4488), AGL(178), KIAA1279(26128), MGAT2(4247), POMT2(29954), HSPG2(3339), TRPS1(7227), WHCR(7467), CD96(10225), INSR(3643), EHMT1(79813), WHSC1(7468), SIX3(6496), ATIC(471), LMBRD1(55788), PAX3(5077), INS(3630), MED12(9968), DHCR7(1717), DGCR(1714), WNT3(7473), FREM2(341640), PAK3(5063), PITX2(5308), ADAMTSL2(9719), FRAS1(80144), SHH(6469), GCK(2645), TP63(8626), KRAS(3845), HYLS1(219844), TFAP2B(7021), EFNB1(1947), TFAP2A(7020), MMACHC(25974), SEMA3E(9723), PCCB(5096), GBA(2629), TPM2(7169), PVRL1(5818), PCCA(5095)]
LIP TELANGIECTASES(HP:0000214)	[ENG(2022), ACVRL1(94)]
LIPEMIA RETINALIS(HP:0000660)	[LPL(4023), SLC37A4(2542), G6PC(2538), APOC2(344)]
LIPID ACCUMULATION IN HEPATOCYTES(HP:0006561)	[LRPPRC(10128), COX6B1(1340), FASTKD2(22868), CPT2(1376)]
LIPID ACCUMULATION IN SKELETAL MUSCLE(HP:0009058)	[CPT2(1376)]
LIPODYSTROPHY(HP:0009125)	[PPP1R3A(5506), BSCL2(26580), PPARG(5468), INSR(3643), LMNA(4000), AGPAT2(10555), ZMPSTE24(10269)]
LIPOMA OF CORPUS CALLOSUM(HP:0006931)	[ALX3(257)]
LIPOMAS(HP:0001012)	[LIPC(3990), APC(324), LPL(4023), ALX3(257), TSPAN31(6302), VANGL1(81839), PTEN(5728), MEN1(4221), TSC1(7248), TSC2(7249), APOC2(344)]
LIPOPIGMENT IN EXTRANEURONAL CELLS(HP:0003463)	[TPP1(1200), CLN3(1201)]
LISCH NODULES(HP:0009737)	[NF1(4763)]
LISSENCEPHALY(HP:0001339)	[TUBA1A(7846), FKRP(79147), FKTN(2218), DCX(1641), POMGNT1(55624), LARGE(9215), POMT1(10585), RELN(5649), POMT2(29954)]
LITTLE OR NO EYEBROWS, EYELASHES OR BODY HAIR(HP:0004519)	[HR(55806)]
LIVEDO RETICULARIS(HP:0001037)	[AGXT(189)]
LIVER BIOPSY SHOWS INCREASED LIPID DROPLETS(HP:0006565)	[LRPPRC(10128), COX6B1(1340), FASTKD2(22868)]
LIVER CALCIFICATIONS(HP:0006559)	[LBR(3930), CPT2(1376)]
LIVER CANCER(HP:0002896)	[MET(4233), SLC37A4(2542), AFP(174), G6PC(2538), UROD(7389), PIK3CA(5290), NSD1(64324), CDKN1C(1028), H19(283120), CTNNB1(1499), PDGFRL(5157), SERPINA1(5265), FAH(2184), KCNQ1OT1(10984), APC(324), HMBS(3145), SLC17A3(10786), CASP8(841), JAG1(182), TP53(7157), HFE(3077), AXIN1(8312)]
LIVER DYSFUNCTION(HP:0004393)	[SLC25A15(10166), ARSA(410), HADHB(3032), COX6B1(1340), FASTKD2(22868)]
LIVER TISSUE SHOWS 80 TO 99% DEPLETION OF MITOCHONDRIAL DNA(HP:0006581)	[DGUOK(1716), MPV17(4358), C10orf2(56652)]
LIVER TRANSAMINASES NORMAL TO SLIGHTLY INCREASED(HP:0003143)	[SLC37A4(2542), G6PC(2538)]
LOBELESS EARS(HP:0000387)	[ESCO2(157570), COL3A1(1281)]
LOBULATED TONGUE(HP:0000180)	[MKS1(54903), OFD1(8481)]
LOCALIZED EPIDERMOLYTIC HYPERKERATOSIS(HP:0007559)	[KRT16(3868), KRT1(3848), KRT9(3857)]
LOCOMOTOR DELAY(HP:0001307)	[FKRP(79147), VPS13B(157680), ANCR(282), PRPS1(5631), MECP2(4204), PRPS2(5634), COL6A1(1291), CDKL5(6792), COL6A2(1292), PTCH1(5727), COL6A3(1293), SLC12A6(9990), COL2A1(1280), UBE3A(7337), PCDH15(65217), ADAMTS2(9509)]
LONG CLAVICLES(HP:0000890)	[LBR(3930), TBCE(6905), CHRNG(1146), TBX15(6913)]
LONG COCCYX(HP:0002831)	[TRPV4(59341)]
LONG EYELASHES(HP:0000527)	[HSPG2(3339), EP300(2033), ST14(6768), MOGS(7841), CREBBP(1387), NIPBL(25836)]
LONG EYELASHES IN IRREGULAR ROWS(HP:0007740)	[HSPG2(3339)]
LONG FACE(HP:0000276)	[CD96(10225), UPF3B(65109), OPHN1(4983), RAPSN(5913), RAB39B(116442), MGP(4256), MUSK(4593), MMACHC(25974), SLC6A8(6535), EYA1(2138), MED12(9968), SNAP29(9342), FGF3(2248), CHRNG(1146), CHRNE(1145), ACTA1(58), RECQL4(9401), CHRNB1(1140), WNT7A(7476), FMR1(2332), ATP7A(538)]
LONG HALLUCES(HP:0001867)	[SMS(6611)]
LONG NECK(HP:0000472)	[FLNA(2316), ATP7A(538), EYA1(2138)]
LONG NOSE(HP:0003189)	[MED12(9968), NOG(9241), SLC9A6(10479), OPHN1(4983), NBN(4683), JAG1(182)]
LONG PALPEBRAL FISSURES(HP:0000637)	[ROR2(4920)]
LONG PHILTRUM(HP:0000343)	[KCNJ11(3767), AVP(551), TRPS1(7227), PDHA1(5160), RAPSN(5913), FGFR1(2260), MYH3(4621), NSD1(64324), FGFR2(2263), ERCC6(2074), HSD17B4(3295), COL11A1(1301), GLI3(2737), INS(3630), MED12(9968), BUB1B(701), DHCR7(1717), CRLF1(9244), GPC6(10082), GNE(10020), IGF1R(3480), GNPTAB(79158), SC5DL(6309), ADAMTSL2(9719), TBCE(6905), GCK(2645), CRTAP(10491), BCOR(54880), SEC23A(10484), TNNI2(7136), B3GALTL(145173), TNNT3(7140), ROR2(4920), NIPBL(25836), ABCC8(6833), AP3B1(8546), DOK7(285489), CHRNG(1146), CUL7(9820), TPM2(7169), ATP7A(538)]
LONG SECOND METACARPAL(HP:0006040)	[RUNX2(860)]
LONG TAPERED FINGERS(HP:0006125)	[SLC12A6(9990), CPT2(1376)]
LONG, CURLY DARK UPPER EYELASHES(HP:0007840)	[ST14(6768)]
LONG, CURLY EYELASHES(HP:0000500)	[ST14(6768), NIPBL(25836)]
LONG, FLAT PHILTRUM(HP:0000323)	[TRPS1(7227), AP3B1(8546)]
LONG, HYPEREXTENSIBLE FINGERS(HP:0006010)	[COL6A1(1291), ALG3(10195), MYH7(4625), COL6A2(1292), COL6A3(1293), SMS(6611), MTM1(4534)]
LONG, NARROW FACIES(HP:0000318)	[FBN1(2200), NHS(4810), SLC9A6(10479), BCOR(54880), PQBP1(10084), EYA1(2138)]
LONG, SMOOTH PHILTRUM(HP:0000299)	[ADAMTSL2(9719), SEC23A(10484), GNE(10020), IGF1R(3480)]
LONG, THIN FACE(HP:0000334)	[UPF3B(65109), ACTA1(58), SLC6A8(6535), ATP7A(538)]
LONG, THIN HANDS(HP:0001502)	[SMS(6611)]
LONG-CHAIN DICARBOXYLIC ACIDURIA(HP:0008293)	[CPT2(1376)]
LONG-TRACT SIGNS(HP:0002423)	[SQSTM1(8878), PSEN1(5663), APP(351), TNFRSF11A(8792), APOE(348)]
LONGITUDINAL GROOVE ON SOLES(HP:0004681)	[ERCC6(2074)]
LONGITUDINAL RIDGING(HP:0001801)	[ATP2A2(488), DKC1(1736), WNT10A(80326), MSX1(4487), LMX1B(4010)]
LONGITUDINAL SPLITTING(HP:0001809)	[DKC1(1736), EFNB1(1947)]
LONGITUDINAL VAGINAL SEPTUM(HP:0008740)	[HOXA13(3209)]
LOOSE, REDUNDANT SKIN(HP:0001582)	[PEX19(5824), ELN(2006), NPR2(4882), PEX10(5192), EFEMP2(30008), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), LOX(4015), PEX3(8504), HRAS(3265), FBLN5(10516), PEX26(55670), ADAMTS2(9509), ATP7A(538)]
LOOSE, REDUNDANT SKIN ON FINGERS(HP:0007516)	[NPR2(4882)]
LOP EARS(HP:0000394)	[COL5A2(1290), COL5A1(1289), COL1A1(1277), SEMA3E(9723), CHD7(55636)]
LORDOSIS(HP:0002939)	[VCP(7415), TRAPPC2(6399), FBN1(2200), HSPG2(3339), RET(5979), ARSB(411), FKRP(79147), TRPS1(7227), COMP(1311), NPR2(4882), FGFR3(2261), SGCG(6445), COL11A2(1302), LMX1B(4010), FLNB(2317), SLC26A2(1836), MED12(9968), RMRP(6023), L1CAM(3897), MATN3(4148), ADAMTS10(81794), DYM(54808), COL2A1(1280), FUCA1(2517), IHH(3549), POMT1(10585), NEB(4703), GLB1(2720), COLQ(8292), SMARCAL1(50485), PLEKHG5(57449), VPS13B(157680), MFN2(9927), CLCF1(23529), GALNS(2588), TFAP2A(7020), SHOX(6473), EIF2AK3(9451), RAB3GAP2(25782), GJA1(2697), CUL7(9820), HSD17B10(3028), TOR1A(1861)]
LOSS OF ABILITY TO WALK(HP:0006957)	[C10orf2(56652)]
LOSS OF ABILITY TO WALK IN EARLY CHILDHOOD(HP:0008945)	[TK2(7084)]
LOSS OF ABILITY TO WALK IN FIRST DECADE(HP:0006794)	[SLC9A6(10479)]
LOSS OF CONSCIOUSNESS(HP:0007185)	[GCK(2645), INSR(3643), GLUD1(2746), ABCC8(6833), SLC16A1(6566)]
LOSS OF DEFINITION OF CORTICOMEDULLARY DIFFERENTIATION(HP:0005573)	[BSND(7809), CLCNKB(1188)]
LOSS OF DEVELOPMENTAL MILESTONES(HP:0002471)	[ASPA(443), NAGA(4668), HSD17B10(3028)]
LOSS OF EYEBROWS AND EYELASHES(HP:0004520)	[SAT1(6303)]
LOSS OF EYEBROWS, EYELASHES AND BEARD(HP:0004530)	[SAT1(6303)]
LOSS OF FACIAL ADIPOSE TISSUE(HP:0000292)	[LMNB2(84823), ERCC8(1161), ERCC6(2074), ZMPSTE24(10269)]
LOSS OF FACIAL EXPRESSION(HP:0005327)	[PRNP(5621)]
LOSS OF LARGE MYELINATED FIBERS(HP:0003387)	[SH3TC2(79628), IKBKAP(8518), HSPB8(26353), SACS(26278), SETX(23064), APTX(54840), SPTLC1(10558)]
LOSS OF PURKINJE CELLS IN THE CEREBELLAR VERMIS(HP:0007001)	[SACS(26278)]
LOSS OF RETINAL PIGMENT EPITHELIUM(HP:0007722)	[VCAN(1462)]
LOSS OF SPEECH(HP:0002371)	[PSAP(5660), ARSA(410), CHMP2B(25978), PPT1(5538), NPC2(10577), NPC1(4864)]
LOSS OF SPINAL CORD ANTERIOR HORN CELLS(HP:0007136)	[UBA1(7317), SETX(23064)]
LOSS OF SUBCUTANEOUS ADIPOSE TISSUE FROM FACE, PROGRESSIVE(HP:0009019)	[LMNB2(84823)]
LOSS OF SUBCUTANEOUS ADIPOSE TISSUE FROM GLUTEAL REGION(HP:0009017)	[PPP1R3A(5506), PPARG(5468)]
LOSS OF SUBCUTANEOUS ADIPOSE TISSUE FROM UPPER LIMBS AND TRUNK(HP:0009056)	[LMNB2(84823)]
LOSS OF SUBCUTANEOUS ADIPOSE TISSUE IN LIMBS(HP:0003635)	[PPP1R3A(5506), PPARG(5468), LMNA(4000), ZMPSTE24(10269)]
LOSS OF SUBCUTANEOUS TRUNCAL ADIPOSE TISSUE(HP:0009002)	[LMNA(4000), ZMPSTE24(10269)]
LOSS OF TEETH(HP:0000701)	[TINF2(26277), GJA1(2697), LMNA(4000), TERC(7012), TNFRSF11B(4982), TERT(7015), ALPL(249), TP63(8626), CTSC(1075), DKC1(1736), KRT14(3861), ZMPSTE24(10269)]
LOSS OF VERY EARLY MILESTONES(HP:0007242)	[ASPA(443)]
LOSS OF VOICE(HP:0001686)	[SDHD(6392), SDHC(6391), SDHAF2(54949)]
LOW ALKALINE PHOSPHATASE(HP:0003282)	[SLC39A4(55630), ALPL(249)]
LOW BACK PAIN(HP:0003419)	[SGCB(6443), SPAST(6683)]
LOW BIRTH WEIGHT(HP:0001518)	[KCNJ11(3767), WHCR(7467), PDHA1(5160), INSR(3643), WHSC1(7468), ERCC2(2068), ERCC3(2071), RAPSN(5913), MYH3(4621), FZD4(8322), ERCC6(2074), H19(283120), INS(3630), BUB1B(701), NPHS1(4868), SBDS(51119), FANCD2(2177), KCNJ1(3758), FANCC(2176), FANCE(2178), EMG1(10436), UBR1(197131), VPS13B(157680), GCK(2645), FANCA(2175), TSHR(7253), LRP5(4041), ABCC8(6833), MCPH1(79648), GTF2H5(404672), HADHB(3032), IGHMBP2(3508), GJA1(2697), DOK7(285489), SLC12A1(6557), CUL7(9820), POR(5447), MRPS16(51021), COL1A1(1277), HADHA(3030), ACTB(60)]
LOW CHOLESTEROL ESTERIFICATION RATES(HP:0003349)	[NPC2(10577), NPC1(4864)]
LOW FRONTAL HAIRLINE(HP:0000294)	[EP300(2033), LRPPRC(10128), TWIST1(7291), CREBBP(1387), FGFR3(2261), FGFR2(2263), MAN2B1(4125)]
LOW FRUSTRATION TOLERANCE(HP:0000744)	[MED12(9968), KDM5C(8242)]
LOW GONADOTROPINS (SECONDARY HYPOGONADISM)(HP:0003335)	[NR0B1(190)]
LOW INTELLIGENCE(HP:0001286)	[PTPN11(5781), SOS1(6654), ERCC2(2068), ERCC6(2074), XPA(7507)]
LOW MATERNAL SERUM ESTRIOL(HP:0008073)	[POR(5447)]
LOW NASAL BRIDGE(HP:0000428)	[FRAS1(80144), ARSB(411), GNAS(2778), AGA(175), ATRX(546), FGFR1(2260), TP63(8626), FGFR3(2261), PEX7(5191), FGFR2(2263), RUNX2(860), RAB3GAP2(25782), TRIM37(4591), MAPK10(5602), GNPAT(8443), CUL7(9820), COL2A1(1280), FREM2(341640), GNPTAB(79158)]
LOW NORMAL INTELLIGENCE(HP:0007180)	[PTPN11(5781), SOS1(6654)]
LOW PARATHYROID HORMONE(HP:0000856)	[TBCE(6905), PTH1R(5745)]
LOW PLASMA CELLS NUMBER IN BONE MARROW(HP:0002956)	[TNFRSF13B(23495), ICOS(29851)]
LOW PLASMA CITRULLINE(HP:0003572)	[CPS1(1373), OTC(5009)]
LOW PLASMA RENIN ACTIVITY(HP:0003263)	[AVPR2(554), CYP11B1(1584), WNK4(65266), HSD11B2(3291)]
LOW POSTERIOR HAIRLINE(HP:0002162)	[PTPN11(5781), EP300(2033), WHCR(7467), WHSC1(7468), CREBBP(1387), GNE(10020), ALDOA(226), TFAP2A(7020), EFNB1(1947), NIPBL(25836), GDF6(392255)]
LOW PYRUVATE CARBOXYLASE ACTIVITY IN LIVER AND CULTURED FIBROBLASTS(HP:0003209)	[FXN(2395)]
LOW T4(HP:0003222)	[IYD(389434), SLC5A5(6528), PAX8(7849)]
LOW TO LOW-NORMAL MAGNESIUM(HP:0008274)	[TBCE(6905)]
LOW URINARY CYCLIC AMP RESPONSE TO PTH ADMINISTRATION(HP:0003456)	[GNAS(2778), GNASAS(149775), STX16(8675)]
LOW WEIGHT(HP:0001823)	[PRNP(5621), ERCC2(2068), ERCC3(2071), MYH3(4621), ERCC6(2074), H19(283120), NPHS1(4868), BUB1B(701), FANCD2(2177), FANCC(2176), TYMP(1890), EMG1(10436), FANCE(2178), UBR1(197131), SEPN1(57190), TSHR(7253), LRP5(4041), NEUROG3(50674), SLC6A8(6535), ABCC8(6833), MCPH1(79648), GTF2H5(404672), SLC9A6(10479), GJA1(2697), SLC12A1(6557), JPH3(57338), POR(5447), COL1A1(1277), MRPS16(51021), ACTB(60), KCNJ11(3767), WHCR(7467), PDHA1(5160), INSR(3643), WHSC1(7468), RAPSN(5913), FZD4(8322), POLG(5428), INS(3630), IGF1(3479), SBDS(51119), NME1(4830), KCNJ1(3758), IGF1R(3480), VPS13B(157680), GCK(2645), FANCA(2175), SNCA(6622), HADHB(3032), IGHMBP2(3508), DOK7(285489), CUL7(9820), HADHA(3030), SMPD1(6609)]
LOW, SLOPING FOREHEAD(HP:0008493)	[RELN(5649)]
LOW-FREQUENCY HEARING LOSS(HP:0008542)	[DIAPH1(1729)]
LOW-MOLECULAR-WEIGHT PROTEINURIA(HP:0003126)	[CLCN5(1184)]
LOW-SET EARS(HP:0000369)	[FBN1(2200), MYCN(4613), ABCD3(5825), RET(5979), EP300(2033), ATRX(546), PEX2(5828), TWIST1(7291), PEX5(5830), ATR(545), PHOX2B(8929), CCBE1(147372), HSD17B4(3295), STRA6(64220), EDN3(1908), FLNA(2316), ESCO2(157570), BUB1B(701), ALX3(257), SOX9(6662), HRAS(3265), MAPK10(5602), NF1(4763), GNE(10020), DNMT3B(1789), CHRNA1(1134), BMP4(652), UPK3A(7380), TMEM216(51259), PEX10(5192), LRP2(4036), PEX13(5194), PEX1(5189), ACOX1(51), CTSD(1509), LBR(3930), MKS1(54903), AP3B1(8546), ASCL1(429), GJA1(2697), CHRNG(1146), CHRND(1144), CREBBP(1387), RECQL4(9401), MRPS16(51021), RAB23(51715), KIAA1279(26128), CPT2(1376), HSPG2(3339), CD96(10225), INSR(3643), FGFR1(2260), ATIC(471), INPP5E(56623), FGFR2(2263), MVK(4598), MECP2(4204), LMBRD1(55788), COL11A1(1301), ZMPSTE24(10269), MED12(9968), DHCR24(1718), BDNF(627), PTPN11(5781), SOS1(6654), DHCR7(1717), DGCR(1714), CECR(1055), IGBP1(3476), AHI1(54806), FAM20C(56975), KCNJ2(3759), WNT3(7473), FREM2(341640), PEX26(55670), GDNF(2668), NEB(4703), FRAS1(80144), TBCE(6905), TBX1(6899), PORCN(64840), HYLS1(219844), TFAP2B(7021), MMACHC(25974), TFAP2A(7020), NIPBL(25836), LIFR(3977), OFD1(8481), FAM123B(139285), GBA(2629)]
LOW-SET, POSTERIORLY ROTATED EARS(HP:0000368)	[FBN1(2200), PTPN11(5781), RECQL4(9401), FGFR2(2263), TFAP2A(7020)]
LOW-TO-NORMAL BLOOD PRESSURE(HP:0002632)	[SLC12A1(6557), KCNJ1(3758)]
LOWER EYELID COLOBOMA(HP:0000652)	[TCOF1(6949)]
LOWER LEG ATROPHY(HP:0003714)	[PRPS1(5631), PRPS2(5634)]
LOWER LIMB ATROPHY(HP:0006975)	[ATL1(51062)]
LOWER LIMB HYPERREFLEXIA(HP:0002395)	[LBR(3930), KDM5C(8242), PSEN1(5663), LARGE(9215), TREX1(11277), ST3GAL5(8869), DPM1(8813)]
LOWER LIMB HYPERTONIA(HP:0006895)	[LBR(3930), KDM5C(8242)]
LOWER LIMB MUSCLE HYPOTROPHY(HP:0009001)	[KDM5C(8242)]
LOWER LIMB MUSCLE WEAKNESS(HP:0007340)	[PRNP(5621), BSCL2(26580), NIPA1(123606), ZFYVE26(23503), ATL1(51062), SPG11(80208), LMNA(4000), HSPB1(3315), KIF5A(3798), TRIM32(22954), DYSF(8291), HSPD1(3329), SPG7(6687), CYP7B1(9420), KIAA0196(9897), PLP1(5354), DCTN1(1639), SPAST(6683), SPG20(23111), HSPB8(26353), NF1(4763), TPM3(7170)]
LOWER LIMB SPASTICITY(HP:0002061)	[BSCL2(26580), NIPA1(123606), ZFYVE26(23503), ATL1(51062), SPG11(80208), KIF5A(3798), CCT5(22948), HSPD1(3329), SPG7(6687), CYP7B1(9420), PLP1(5354), KIAA0196(9897), SPAST(6683), SPG20(23111), ARX(170302), L1CAM(3897)]
LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS(HP:0003483)	[SMN1(6606), WNK1(65125), HSPB1(3315), LARGE(9215), HSPB8(26353), FLNC(2318), SPTLC1(10558), ATP7A(538)]
LOWER LIP PIT(HP:0000196)	[IRF6(3664), TFAP2A(7020)]
LOWER MOTOR NEURON DISEASE(HP:0007276)	[PLEKHG5(57449), DCTN1(1639)]
LOWER MOTOR NEURON SIGNS(HP:0002366)	[PLEKHG5(57449), ALS2(57679), SETX(23064), DCTN1(1639)]
LOWER THORACIC KYPHOSIS(HP:0004633)	[NPR2(4882)]
LOWER URINARY TRACT DILATATION(HP:0000021)	[AQP2(359), AVPR2(554)]
LOWER URINARY TRACT DILATATION MAY OCCUR OVER TIME(HP:0002838)	[AQP2(359), AVPR2(554)]
LUMBAR HEMIVERTEBRAE(HP:0008439)	[FGFR1(2260)]
LUMBAR HYPERLORDOSIS(HP:0002938)	[FBN1(2200), TRAPPC2(6399), VCP(7415), HSPG2(3339), ARSB(411), NPR2(4882), COMP(1311), FGFR3(2261), COL11A2(1302), LMX1B(4010), MED12(9968), SLC26A2(1836), RMRP(6023), MATN3(4148), ADAMTS10(81794), DYM(54808), COL2A1(1280), IHH(3549), FUCA1(2517), POMT1(10585), SMARCAL1(50485), VPS13B(157680), MFN2(9927), CLCF1(23529), SHOX(6473), RAB3GAP2(25782), HSD17B10(3028)]
LUMBAR KYPHOSCOLIOSIS(HP:0004619)	[COL2A1(1280)]
LUMBAR KYPHOSIS(HP:0008454)	[RPS6KA3(6197), FGFR3(2261), COL2A1(1280)]
LUMBAR KYPHOSIS IN INFANCY(HP:0008414)	[FGFR3(2261)]
LUMBAR SCOLIOSIS(HP:0004626)	[COL2A1(1280)]
LUNG SEGMENTATION DEFECTS(HP:0006525)	[GPC3(2719)]
LYMPH NODES LACK GERMINAL CENTERS(HP:0002849)	[CD40(958), CD40LG(959), SP110(3431)]
LYMPH NODES SHOW FLORID REACTIVE FOLLICULAR HYPERPLASIA AND MARKED PARACORTICAL EXPANSION WITH IMMUNOBLASTS AND PLASMA CELLS(HP:0002729)	[FAS(355), CASP10(843)]
LYMPHADENITIS(HP:0002840)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
LYMPHADENOPATHY(HP:0002716)	[LYST(1130), SH2D1A(4068), DCLRE1C(64421), TNFRSF13B(23495), MVK(4598), CYBA(1535), CYBB(1536), AICDA(57379), NCF2(4688), NCF1(653361), RAG2(5897), RAG1(5896), UNG(7374), CASP8(841), ICOS(29851), SMPD1(6609)]
LYMPHEDEMA(HP:0001004)	[PTPN11(5781), GLA(2717), FOXC2(2303), SOS1(6654), FLT4(2324), CCBE1(147372), SOX18(54345), NAGA(4668)]
LYMPHEDEMA, PREDOMINANTLY IN THE LOWER LIMBS(HP:0003550)	[FOXC2(2303), FLT4(2324)]
LYMPHOGRAPHY SHOWS HYPOPLASIA OF LYMPHATIC VESSELS(HP:0003759)	[FLT4(2324)]
LYMPHOID LEUKEMIA(HP:0005526)	[LYL1(4066)]
LYMPHOMA(HP:0002665)	[MSH2(4436), MSH6(2956), SH2D1A(4068), MLH1(4292), TNFRSF13B(23495), PMS2(5395), NBN(4683), BLM(641), RMRP(6023), BCL2(596), TCL1A(8115), PNP(4860), RB1(5925)]
LYMPHOPENIA(HP:0001888)	[TNFSF11(8600), AK2(204), MMAA(166785), TINF2(26277), SH2D1A(4068), ATM(472), ATR(545), NHP2(55651), LMBRD1(55788), RMRP(6023), HOXA11(3207), SBDS(51119), FANCD2(2177), FANCC(2176), FANCE(2178), TCIRG1(10312), NOP10(55505), SMARCAL1(50485), TCN2(6948), ADA(100), MMAB(326625), TERC(7012), TERT(7015), FANCA(2175), DKC1(1736), PSTPIP1(9051), CD3E(916), PCCB(5096), MPL(4352), WAS(7454), GBA(2629), IVD(3712), PNP(4860), PCCA(5095)]
LYSINURIA(HP:0002158)	[AASS(10157)]
LYTIC CYSTIC LESIONS IN APPENDICULAR BONES (OCCURS AFTER PUBERTY)(HP:0002833)	[BSCL2(26580), AGPAT2(10555)]
MACRO- AND MICROVESICULAR STEATOSIS, ACUTE(HP:0006573)	[MCCC1(56922)]
MACROCEPHALY(HP:0000256)	[GUSB(2990), BBS5(129880), NSD1(64324), HSD17B4(3295), GLI3(2737), HRAS(3265), AURKC(6795), PTCH1(5727), IHH(3549), BBS9(27241), GPC3(2719), TMEM216(51259), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), PTEN(5728), B3GALTL(145173), ROR2(4920), GJA1(2697), C20orf7(79133), MAN2B1(4125), MKKS(8195), FH(2271), UPF3B(65109), FGFR3(2261), INPP5E(56623), FGFR2(2263), MECP2(4204), BBS12(166379), NDUFA1(4694), IGBP1(3476), KCNJ1(3758), SYN1(6853), TTC8(123016), PEX26(55670), BBS1(582), TNFRSF11B(4982), BBS2(583), OPHN1(4983), BBS4(585), NDUFA11(126328), NDUFAF4(29078), PEX3(8504), NDUFS1(4719), BBS10(79738), NDUFV1(4723), NDUFS2(4720), OFD1(8481), BBS7(55212), NDUFS6(4726), FAM123B(139285), NDUFS4(4724), PEX19(5824), ARSB(411), TRIM32(22954), PEX5(5830), ARL6(84100), NDUFAF2(91942), B4GALT7(11285), BRAF(673), MTM1(4534), IDS(3423), MAP2K1(5604), MAP2K2(5605), SOX9(6662), MAPK10(5602), NF1(4763), SLC35D1(23169), TCIRG1(10312), FMR1(2332), ASPA(443), NDUFAF3(25915), D2HGDH(728294), ETFDH(2110), ETFB(2109), ETFA(2108), MKS1(54903), LBR(3930), MLC1(23209), PLG(5340), ZNF469(84627), MGAT2(4247), B4GALT1(2683), CEP290(80184), MED12(9968), DHCR24(1718), EIF2B2(8892), EIF2B5(8893), L1CAM(3897), EIF2B4(8890), EIF2B3(8891), HEXB(3074), EIF2B1(1967), GFAP(2670), KRAS(3845), GCDH(2639)]
MACROCEPHALY, POSTNATAL(HP:0005490)	[MED12(9968)]
MACROCEPHALY, PROGRESSIVE(HP:0004481)	[NDUFAF3(25915), NDUFA11(126328), NDUFAF4(29078), PTEN(5728), NDUFS1(4719), NDUFAF2(91942), NDUFV1(4723), NDUFS2(4720), C20orf7(79133), NDUFS6(4726), NDUFS4(4724), NDUFA1(4694), GFAP(2670)]
MACROCYTIC ANEMIA(HP:0001972)	[TCN2(6948), RMRP(6023), RPS14(6208)]
MACROCYTIC DYSERYTHROPOIETIC ANEMIA(HP:0005532)	[CDAN1(146059)]
MACROCYTIC HEMOLYTIC DISEASE(HP:0005524)	[HBB(3043)]
MACROGLOSSIA(HP:0000158)	[PEX19(5824), ARSB(411), FKRP(79147), ATRX(546), EHMT1(79813), PEX5(5830), GATA1(2623), NSD1(64324), ANCR(282), INPP5E(56623), MECP2(4204), CDKN1C(1028), H19(283120), DCR(1637), IDS(3423), KCNQ1OT1(10984), HRAS(3265), CDKL5(6792), HEXB(3074), FUCA1(2517), UBE3A(7337), GNPTAB(79158), PEX26(55670), DNMT3B(1789), GPC3(2719), AGA(175), PEX10(5192), PEX14(5195), PEX13(5194), TSHB(7252), PEX1(5189), SLC5A5(6528), PEX3(8504), ROR2(4920), GAA(2548), MAN2B1(4125), PAX8(7849)]
MACROMELANOSOMES ON EM(HP:0003342)	[GPR143(4935)]
MACROORCHIDISM(HP:0000053)	[AGA(175), MECP2(4204), FMR1(2332)]
MACROORCHIDISM, POSTPUBERTAL(HP:0002050)	[FMR1(2332)]
MACRORETICULAR RETINAL DYSTROPHY(HP:0007963)	[PRPH2(5961)]
MACROSTOMIA(HP:0000181)	[TCOF1(6949), ADAMTSL2(9719), CD96(10225), GPC3(2719), ATRX(546), AGA(175), INSR(3643), SEC23A(10484), ATIC(471), GALNS(2588), ANCR(282), PRPS1(5631), MECP2(4204), PRPS2(5634), MED12(9968), PTPN11(5781), MKS1(54903), OFD1(8481), SOS1(6654), CDKL5(6792), UBE3A(7337), GLB1(2720)]
MACROVESICULAR STEATOSIS(HP:0001403)	[CPT2(1376)]
MACULAR COLOBOMA(HP:0001116)	[CLDN19(149461)]
MACULAR DEGENERATION(HP:0000608)	[ATXN7(6314), ZFYVE26(23503), PPT1(5538), CLN3(1201), BEST1(7439), ABCC6(368), CNGB3(54714), RLBP1(6017), ABCA4(24), ALDH3A2(224), NR2E3(10002)]
MACULAR DYSTROPHY(HP:0007754)	[CDH3(1001), PRPH2(5961), BEST1(7439), PROM1(8842), TIMP3(7078), ELOVL4(6785)]
MACULAR HYPOPLASIA(HP:0001104)	[COL18A1(80781), LYST(1130)]
MACULAR PALLOR WITH PROMINENCE OF FOVEA CENTRALIS(HP:0007988)	[HEXA(3073)]
MACULAR PIGMENTARY CHANGES(HP:0008002)	[PROM1(8842)]
MADELUNG DEFORMITY(HP:0003067)	[SHOX(6473)]
MADELUNG-LIKE FOREARM DEFORMITIES(HP:0003068)	[EXT2(2132), EXT1(2131)]
MAJOR DEVELOPMENTAL MILESTONES ARE NOT ATTAINED(HP:0006885)	[SNAP29(9342)]
MALABSORPTION(HP:0002024)	[SAR1B(51128), AMN(81693), PRSS1(5644), TREH(11181), PEX2(5828), POLG(5428), AMACR(23600), CIITA(4261), AIRE(326), RMRP(6023), SBDS(51119), SLC2A2(6514), CUBN(8029), ABCB11(8647), TYMP(1890), UBR1(197131), PEX26(55670), DNMT3B(1789), SLC5A1(6523), PNLIP(5406), PEX1(5189), AKR1D1(6718), CD247(919), MCM6(4175), RFXANK(8625), PCSK1(5122), SI(6476), RFX5(5993), LIPA(3988), RFXAP(5994), SPINK1(6690), ATP8B1(5205), MTTP(4547)]
MALALIGNED CARPAL BONE(HP:0006092)	[GDF5(8200)]
MALALIGNED TEETH(HP:0000693)	[FBN1(2200), RAB3GAP2(25782), ADAMTS10(81794), FLNA(2316)]
MALAR HYPOPLASIA(HP:0000272)	[FBN1(2200), PEX19(5824), ABCD3(5825), FKRP(79147), ATRX(546), PEX2(5828), TWIST1(7291), PEX5(5830), MYH3(4621), CCBE1(147372), GATA1(2623), TGFBR1(7046), MGP(4256), FLNA(2316), FLNB(2317), DCR(1637), BUB1B(701), NF1(4763), SLC35D1(23169), DNMT3B(1789), CANT1(124583), TCOF1(6949), BMP4(652), PEX10(5192), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), SEC23A(10484), PEX7(5191), BLM(641), ROR2(4920), DDR2(4921), SLC6A8(6535), LBR(3930), GJA1(2697), COL1A2(1278), POR(5447), AGL(178), RAI1(10743), PTH1R(5745), RAB23(51715), COL1A1(1277), MAN2B1(4125), HSPG2(3339), EHMT1(79813), LMNA(4000), FGFR1(2260), FGFR3(2261), FGFR2(2263), MECP2(4204), COL11A2(1302), PAX3(5077), COL11A1(1301), SLC26A2(1836), GPC6(10082), KCNJ2(3759), COL2A1(1280), PQBP1(10084), PEX26(55670), SHH(6469), POMGNT1(55624), SMCR(6600), SOST(50964), TP63(8626), PEX3(8504), TFAP2A(7020), LIFR(3977), RUNX2(860), EBP(10682), GORAB(92344), PVRL1(5818)]
MALE BREAST ABNORMALITY(HP:0000770)	[CUL4B(8450), KAL1(3730), ALMS1(7840), STK11(6794), HSD17B3(3293), CYP21A2(1589), PTEN(5728), CYP19A1(1588), AR(367), CYP17A1(1586)]
MALE INFERTILITY(HP:0003251)	[PTPN11(5781), LHB(3972), CFTR(1080), DNAI1(27019), AURKC(6795), CTNS(1497)]
MALE PSEUDOHERMAPHRODITISM(HP:0000037)	[LHCGR(3973), LHB(3972), HSD17B3(3293), AR(367), WT1(7490), CYP17A1(1586)]
MALE-LIMITED AUTOSOMAL DOMINANT(HP:0001475)	[LHCGR(3973), CYP19A1(1588)]
MALFORMATION OF AURICLE(HP:0004465)	[TCOF1(6949)]
MALFORMATION OF BRAINSTEM STRUCTURES(HP:0002508)	[TMEM216(51259), INPP5E(56623)]
MALIGNANT EOSINOPHIL PROLIFERATION(HP:0006782)	[PDGFRB(5159)]
MALIGNANT GASTROINTESTINAL TRACT TUMORS(HP:0006749)	[MSH2(4436), MLH1(4292)]
MALIGNANT GENITOURINARY TRACT TUMORS(HP:0006758)	[MSH2(4436), MLH1(4292)]
MALIGNANT HYPERTHERMIA(HP:0002047)	[CHRNA1(1134), RYR1(6261), CHRNG(1146), CHRND(1144)]
MALIGNANT MELANOMA(HP:0002861)	[CDK4(1019), HRAS(3265), ERCC3(2071), XPC(7508), PRKCA(5578), CDKN2A(1029), TGFA(7039)]
MALNUTRITION(HP:0004395)	[SAR1B(51128), MYO5B(4645), COL7A1(1294), ALDOB(229)]
MALPOSITION OF TEETH(HP:0001569)	[LBR(3930), SH3BP2(6452), ZEB2(9839), PTH1R(5745)]
MALROTATION OF COLON(HP:0004785)	[TFAP2A(7020), NIPBL(25836)]
MALROTATION OF SMALL BOWEL(HP:0004794)	[WHCR(7467), WHSC1(7468)]
MALROTATION OF THE KIDNEY(HP:0004712)	[SALL4(57167), STRA6(64220), EYA1(2138)]
MANDIBULAR HYPOPLASIA(HP:0000347)	[TCOF1(6949), HSPG2(3339), LMNA(4000), MYH3(4621), TNNI2(7136), PTEN(5728), TNNT3(7140), COL11A2(1302), FLNA(2316), ZMPSTE24(10269), FLNB(2317), MED12(9968), LBR(3930), TPM2(7169), KCNJ2(3759), NSDHL(50814), PTH1R(5745)]
MANDIBULAR OSTEOMYELITIS(HP:0007626)	[TNFSF11(8600), CLCN7(1186)]
MANDIBULAR PAIN(HP:0200025)	[SCN9A(6335)]
MANDIBULAR PROGNATHIA(HP:0000303)	[TNFSF11(8600), UPF3B(65109), INSR(3643), EHMT1(79813), RPS6KA3(6197), RAPSN(5913), ERCC8(1161), MYH3(4621), FGFR1(2260), NSD1(64324), ANCR(282), MECP2(4204), ERCC6(2074), FGFR2(2263), MUSK(4593), PAX3(5077), TGFB1(7040), EYA1(2138), PTPN11(5781), SOS1(6654), CDKL5(6792), PTCH1(5727), DYM(54808), UBE3A(7337), GNPTAB(79158), PQBP1(10084), FMR1(2332), GLB1(2720), BSCL2(26580), ANKH(56172), OPHN1(4983), SOST(50964), GALNS(2588), LRP5(4041), SLC6A8(6535), SLC9A6(10479), KDM5C(8242), GORAB(92344), CHRNE(1145), AGPAT2(10555), RECQL4(9401), CHRNB1(1140), MAN2B1(4125)]
MANDIBULOFACIAL DYSOSTOSIS(HP:0005321)	[TCOF1(6949)]
MAP-DOT-FINGERPRINT CORNEAL DYSTROPHY(HP:0007690)	[TGFBI(7045)]
MARGINAL CORNEAL DYSTROPHY(HP:0007880)	[CYP4V2(285440)]
MARKED DELAY IN BONE AGE(HP:0003799)	[LHX4(89884), GHR(2690)]
MARKED DISTAL SENSORY IMPAIRMENT(HP:0006845)	[RAB7A(7879)]
MARKED MICROMELIC DWARFISM(HP:0003509)	[TRIP11(9321), COL2A1(1280)]
MARKED SHORTNESS AND BOWING OF LONG BONES(HP:0006452)	[FGFR3(2261)]
MARKEDLY DELAYED NERVE CONDUCTION VELOCITIES(HP:0007218)	[LYST(1130)]
MARKEDLY REDUCED IGA LEVELS(HP:0003460)	[TNFRSF13B(23495), ICOS(29851)]
MARKEDLY REDUCED IGG LEVELS(HP:0003294)	[TNFRSF13B(23495), ICOS(29851)]
MARKEDLY REDUCED NEUTROPHIL MOTILITY(HP:0005400)	[SLC35C1(55343)]
MARKEDLY REDUCED T CELL FUNCTION(HP:0005409)	[PNP(4860)]
MASK-LIKE FACIES(HP:0000298)	[TH(7054), UCHL1(7345), TBP(6908), MYH3(4621), MAPT(4137), DBH(1621), DCTN1(1639), ATP13A2(23400)]
MASSIVE CEREBELLAR CORTICAL ATROPHY WITH VACUOLATED OR BINUCLEATED PURKINJE CELLS(HP:0008278)	[SIL1(64374)]
MASTOIDITIS(HP:0000265)	[RAG2(5897), RAG1(5896), NBN(4683)]
MATERNAL DIABETES(HP:0009800)	[PPP1R3A(5506), PPARG(5468)]
MATERNAL VIRILIZATION(HP:0008072)	[POR(5447)]
MEAN AGE OF ONSET 18 YEARS(HP:0003628)	[BSCL2(26580), ATN1(1822), GRN(2896), HSPB8(26353), CAV3(859), PRKCG(5582), SPG7(6687), GARS(2617), ACVR1(90)]
MECHANICAL ILEUS(HP:0010676)	[CFTR(1080)]
MECKEL DIVERTICULUM(HP:0002245)	[GPC3(2719), FGFR1(2260)]
MECONIUM ILEUS(HP:0004401)	[CFTR(1080)]
MEDIAL CALCIFICATION OF MEDIUM-SIZED AND MAJOR ARTERIES(HP:0004966)	[ABCC6(368)]
MEDIAL DEVIATION OF THE FOOT(HP:0008082)	[CANT1(124583)]
MEDIAL FLARING OF THE EYEBROW(HP:0010747)	[SGSH(6448), HGSNAT(138050), ARX(170302), EHMT1(79813), GNS(2799), MITF(4286), FGFR1(2260), GNE(10020), KIAA1279(26128), NAGLU(4669), NIPBL(25836), PAX3(5077)]
MEDIAL ROTATION OF THE MEDIAL MALLEOLUS(HP:0008132)	[FBN1(2200)]
MEDIALLY DEVIATED SECOND TOE(HP:0008096)	[GDF5(8200), BMPR1B(658)]
MEDIALLY DEVIATED, BROAD GREAT TOES(HP:0004710)	[FGFR1(2260), FGFR2(2263)]
MEDIAN CLEFT LIP(HP:0000161)	[OFD1(8481), ALX3(257), TGIF1(7050)]
MEDIAN CLEFT LIP/PALATE(HP:0008501)	[LBR(3930), ALX3(257), TGIF1(7050)]
MEDIAN CLEFT PALATE(HP:0009099)	[LBR(3930), ALX3(257)]
MEDIUM CHAIN DICARBOXYLIC ACIDURIA(HP:0008309)	[ACADM(34)]
MEDULLARY CYSTIC DISEASE(HP:0005569)	[JAG1(182)]
MEDULLARY THYROID CARCINOMA(HP:0002865)	[RET(5979), NTRK1(4914)]
MEDULLOBLASTOMA(HP:0002885)	[MSH2(4436), APC(324), MSH6(2956), SUFU(51684), PTCH1(5727), MLH1(4292), PMS2(5395), NBN(4683), PTCH2(8643)]
MEGAKARYOCYTOPENIA(HP:0005548)	[MPL(4352), HOXA11(3207)]
MEGALENCEPHALY(HP:0001355)	[MLC1(23209), FGFR3(2261), FGFR2(2263)]
MEGALOBLASTIC ANEMIA(HP:0001889)	[AMN(81693), HPRT1(3251), WFS1(7466), SLC19A2(10560), MMADHC(27249), FTCD(10841), LMBRD1(55788), MMACHC(25974), DHFR(1719), MTRR(4552), CUBN(8029), UMPS(7372), SLC46A1(113235), MTR(4548), GIF(2694), PHGDH(26227)]
MEGALOBLASTIC ANEMIA RESPONSIVE ONLY TO THIAMINE(HP:0004860)	[SLC19A2(10560)]
MEGALOBLASTIC ANEMIA UNRESPONSIVE TO VITAMIN B12 AND FOLATE(HP:0004826)	[UMPS(7372)]
MEGALOBLASTIC ANEMIA, CHRONIC, RELAPSING(HP:0004858)	[AMN(81693), CUBN(8029)]
MEGALOBLASTIC BONE MARROW(HP:0001980)	[TCN2(6948), PRPS1(5631)]
MEGALOCORNEA(HP:0000485)	[FKRP(79147), FKTN(2218), TINF2(26277), LARGE(9215), KIAA1279(26128), POMT1(10585), PITX2(5308), POMT2(29954)]
MELANIN PIGMENT AGGREGATION IN HAIR SHAFTS(HP:0002220)	[RAB27A(5873), MYO5A(4644), MLPH(79083)]
MELENA(HP:0002249)	[WAS(7454), ENG(2022), ACVRL1(94)]
MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS(HP:0000793)	[LMNB2(84823), C3(718)]
MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS TYPE II(HP:0004746)	[SBDS(51119), CFH(3075)]
MEMORY IMPAIRMENT(HP:0002354)	[PRNP(5621), CHMP2B(25978), COQ9(57017), SPG7(6687), SPAST(6683), FGF14(2259), EIF2B2(8892), EIF2B5(8893), PDSS2(57107), PSEN1(5663), GRN(2896), EIF2B4(8890), EIF2B3(8891), COQ2(27235), PRKCG(5582), PDSS1(23590), EIF2B1(1967), APTX(54840), ECM1(1893), CABC1(56997)]
MEMORY LOSS(HP:0002081)	[PRNP(5621), EIF2B2(8892), EIF2B5(8893), CHMP2B(25978), GRN(2896), PSEN1(5663), EIF2B4(8890), EIF2B3(8891), PRKCG(5582), EIF2B1(1967), FGF14(2259)]
MENINGIOMA(HP:0002858)	[MN1(4330), NF1(4763), PDGFB(5155), PTEN(5728), NF2(4771)]
MENINGITIS(HP:0001287)	[SH2D1A(4068), TNFRSF13B(23495), RFXANK(8625), CIITA(4261), RFX5(5993), RFXAP(5994), C8A(731), WAS(7454), C8B(732), MEFV(4210), RAG2(5897), RAG1(5896), VANGL1(81839), BTK(695), MNX1(3110)]
MENINGOCELE(HP:0002435)	[FRAS1(80144), VANGL1(81839), INPP5E(56623), FREM2(341640), MNX1(3110), WNT7A(7476), SC5DL(6309)]
MENINGOENCEPHALOCELE(HP:0006888)	[FKRP(79147), FKTN(2218), LARGE(9215), POMT1(10585), POMT2(29954)]
MENINGOMYELOCELE(HP:0002475)	[FRAS1(80144), INPP5E(56623), FREM2(341640), SC5DL(6309)]
MENORRHAGIA(HP:0000132)	[VWF(7450), ITGB3(3690), GP1BA(2811), ITGA2B(3674), GP9(2815), GP1BB(2812), MYH9(4627), F10(2159), F5(2153)]
MENSTRUAL ABNORMALITIES(HP:0000140)	[SRY(6736), GP1BA(2811), RET(5979), SNRPN(6638), INSR(3643), GP9(2815), GP1BB(2812), PROK2(60675), ERCC8(1161), FGFR1(2260), NELF(26012), TAC3(6866), POLG(5428), TACR3(6870), ITGB3(3690), EIF2B2(8892), EIF2B5(8893), NDN(4692), EIF2B4(8890), MYH9(4627), EIF2B3(8891), EIF2B1(1967), CYP19A1(1588), HFE(3077), CYP17A1(1586), UPK3A(7380), PPARG(5468), ITGA2B(3674), AIP(9049), PCSK1(5122), WT1(7490), PPP1R3A(5506), FOXL2(668), FSHB(2488), VWF(7450), SSTR5(6755), KISS1R(84634), FSHR(2492), ALMS1(7840), FST(10468), F10(2159), WNT4(54361), AR(367), CHD7(55636), BMPR1B(658), F5(2153)]
MENSTRUAL IRREGULARITIES(HP:0000858)	[FOXL2(668), SSTR5(6755), INSR(3643), ALMS1(7840), ERCC8(1161), AIP(9049)]
MENTAL DEFICIENCY(HP:0001267)	[MKKS(8195), AUH(549), BBS5(129880), TRIM32(22954), NAGS(162417), MYH3(4621), ARL6(84100), SDHA(6389), GJC2(57165), CEP290(80184), POLG(5428), BBS12(166379), ATXN7(6314), ATXN10(25814), NPHP1(4867), FREM2(341640), ATXN1(6310), BBS9(27241), TTC8(123016), FRAS1(80144), LYST(1130), BBS1(582), SOST(50964), BBS2(583), BBS4(585), FTCD(10841), DCAF17(80067), TSC1(7248), C10orf2(56652), BBS10(79738), MKS1(54903), GRN(2896), BBS7(55212), NAGA(4668), LAMP2(3920), SDHAF1(644096)]
MENTAL DETERIORATION(HP:0001268)	[ARSA(410), PLA2G6(8398), TINF2(26277), ERCC2(2068), SCN1A(6323), MAPT(4137), CLN6(54982), ERCC6(2074), PLP1(5354), NDUFAF2(91942), CTNS(1497), CSTB(1476), NPC2(10577), NPC1(4864), CLN8(2055), GLB1(2720), GALC(2581), ASPA(443), AGA(175), NDUFAF3(25915), L2HGDH(79944), ACOX1(51), RAB27A(5873), GABRG2(2566), C20orf7(79133), NAGA(4668), NAGLU(4669), XPA(7507), DISC2(27184), SDHA(6389), MECP2(4204), POLG(5428), NHLRC1(378884), PSAP(5660), PPT1(5538), NDUFA1(4694), HEXA(3073), HEXB(3074), EPM2A(7957), GFAP(2670), ITM2B(9445), NDUFA11(126328), TIMM8A(1678), NDUFAF4(29078), NDUFS1(4719), SUMF1(285362), NDUFV1(4723), CLN5(1203), NDUFS2(4720), GRN(2896), CLN3(1201), NDUFS6(4726), GBA(2629), NDUFS4(4724), APTX(54840), SDHAF1(644096), HSD17B10(3028)]
MENTAL DETERIORATION IN A SUBSET OF PATIENTS(HP:0006822)	[APTX(54840)]
MENTAL DETERIORATION IN CHILDHOOD(HP:0006854)	[AGA(175)]
MENTAL RETARDATION(HP:0001249)	[TH(7054), FBN1(2200), FKRP(79147), DCX(1641), CENPJ(55835), AUH(549), ATRX(546), MMADHC(27249), GLUD1(2746), TGM1(7051), ATR(545), SACS(26278), CCBE1(147372), TGFBR1(7046), GAN(8139), AVPR2(554), CRBN(51185), DNAJC19(131118), SLC16A2(6567), DCR(1637), GLI3(2737), SLC35C1(55343), THRB(7068), GLDC(2731), NPHP1(4867), COQ2(27235), FANCD2(2177), CTSA(5476), FANCC(2176), FANCE(2178), UBR1(197131), GNPTAB(79158), BBS9(27241), GLB1(2720), TK2(7084), ACADS(35), LYST(1130), ACAT1(38), NTRK1(4914), SLC5A5(6528), GK(2710), B3GALTL(145173), ROR2(4920), SLC6A8(6535), MCPH1(79648), ACOX1(51), FKTN(2218), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), DBT(1629), GJA1(2697), SLC12A1(6557), PUS1(80324), CHRNA4(1137), ATP7A(538), ACTB(60), SAR1B(51128), MKKS(8195), SNRPN(6638), UPF3B(65109), FH(2271), ZEB2(9839), GPR56(9289), FGFR1(2260), FGFR3(2261), OCRL(4952), FGFR2(2263), KCTD7(154881), BBS12(166379), POLG(5428), FGF14(2259), AAAS(8086), ATXN10(25814), GNS(2799), UROC1(131669), CYP27A1(1593), SBDS(51119), POLA1(5422), KCNJ2(3759), FGD1(2245), KCNJ1(3758), ASPM(259266), ACVR1(90), ABHD5(51099), GNAS(2778), BBS1(582), SMCR(6600), OPHN1(4983), BBS2(583), BBS4(585), ALOXE3(59344), NIPBL(25836), BCKDHA(593), BBS10(79738), KDM5C(8242), BCKDHB(594), SNAP29(9342), FAM123B(139285), GNPTG(84572), HPD(3242), SMS(6611), SDHAF1(644096), TUBB2B(347733), PLA2G6(8398), DMPK(1760), ERCC2(2068), TRIM32(22954), ERCC3(2071), ARL6(84100), GATA1(2623), PRPS1(5631), STRA6(64220), ERCC6(2074), CC2D1A(54862), PRODH(5625), BRAF(673), OTC(5009), MAP2K1(5604), SGSH(6448), MAP2K2(5605), BUB1B(701), C7orf11(136647), TMEM67(91147), GALT(2592), MAPK10(5602), FAM126A(84668), TREX1(11277), CLN8(2055), SLC46A1(113235), BTK(695), DNMT3B(1789), TCOF1(6949), PAH(5053), TCN2(6948), GALE(2582), AGA(175), MFSD8(256471), SPG11(80208), BCOR(54880), DLAT(1737), DKC1(1736), FTCD(10841), DLD(1738), BLM(641), MKS1(54903), GNPAT(8443), RECQL4(9401), RPE65(6121), ETHE1(23474), KIAA1279(26128), DMD(1756), JAG1(182), RAB3GAP1(22930), GAD1(2571), POMT2(29954), ZFYVE26(23503), WHCR(7467), WFS1(7466), EHMT1(79813), WHSC1(7468), SIX3(6496), ERCC8(1161), ST3GAL5(8869), CEP290(80184), SLC1A1(6505), PAX3(5077), EYA1(2138), PAX2(5076), MED12(9968), EIF2B2(8892), EIF2B5(8893), RMRP(6023), GPHN(10243), PPT1(5538), DHCR7(1717), DGCR(1714), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), CYB5R3(1727), GDI1(2664), PAK3(5063), EVC(2121), PHGDH(26227), FRAS1(80144), SHH(6469), GCH1(2643), COQ9(57017), HGSNAT(138050), GCK(2645), PCNT(5116), SOST(50964), FANCA(2175), GCSH(2653), TFAP2B(7021), ALDOA(226), TFAP2A(7020), ALDH3A2(224), PCCB(5096), CLN5(1203), TPP1(1200), CLN3(1201), ATP6V0A2(23545), MTRR(4552), ARHGEF6(9459), MTR(4548), APTX(54840), ALOX12B(242), TG(7038), PCCA(5095), CABC1(56997), AMT(275), MYCN(4613), PGK1(5230), CPS1(1373), MAOA(4128), GUSB(2990), SH2D1A(4068), BBS5(129880), NAGS(162417), MYH3(4621), NSD1(64324), ANCR(282), GJC2(57165), MAT1A(4143), SLC6A19(340024), ATXN7(6314), IKBKG(8517), ESCO2(157570), ALX3(257), CDKL5(6792), GUCY2D(3000), FOXP2(93986), ATXN1(6310), SC5DL(6309), CANT1(124583), MYO7A(4647), SALL1(6299), MYO5A(4644), PEX10(5192), PEX14(5195), RAB39B(116442), PEX13(5194), PEX1(5189), PEX7(5191), LRP5(4041), PTEN(5728), DCAF17(80067), NUP62(23636), ABCC8(6833), C10orf2(56652), AP3B1(8546), SLC17A5(26503), CREBBP(1387), SIL1(64374), RAI1(10743), ALDH5A1(7915), SLC12A6(9990), NAGA(4668), NAGLU(4669), MANBA(4126), SLC6A20(54716), HCCS(3052), EVC2(132884), NBN(4683), SDHA(6389), INPP5E(56623), MECP2(4204), PDP1(54704), PRPS2(5634), PDSS2(57107), SPG20(23111), CUL4B(8450), NDN(4692), PHF6(84295), NDP(4693), IGBP1(3476), NLGN4X(57502), COL4A1(1282), PDSS1(23590), IGF1R(3480), FUCA1(2517), CBS(875), UBE3A(7337), SYN1(6853), SLC26A4(5172), PQBP1(10084), PEX26(55670), TTC8(123016), BSCL2(26580), TBCE(6905), IL1RAPL1(11141), TBX1(6899), PORCN(64840), ARG1(383), PEX3(8504), TUBA1A(7846), AQP2(359), OFD1(8481), HADH(3033), BBS7(55212), DPAGT1(1798), CHD7(55636), PRSS12(8492), HSD17B10(3028), SLC25A15(10166), PEX19(5824), ABCD3(5825), EP300(2033), SLC4A4(8671), PEX2(5828), LARGE(9215), CTH(1491), STS(412), PEX5(5830), RPS6KA3(6197), MGP(4256), PLP1(5354), FLNA(2316), ALDH4A1(8659), SPAST(6683), FLNB(2317), IYD(389434), SOX2(6657), NF1(4763), ATP6AP2(10159), AASS(10157), NEU1(4758), POMT1(10585), NKX2-5(1482), AFF2(2334), SLC36A2(153201), FMR1(2332), GPI(2821), ASS1(445), TSHB(7252), TSHR(7253), ASL(435), TSC1(7248), TSC2(7249), L2HGDH(79944), CTSD(1509), LBR(3930), MLC1(23209), ARX(170302), MBTPS2(51360), LAMP2(3920), MGAT2(4247), CTDP1(9150), HSPG2(3339), ATP1A2(477), ATIC(471), HSPD1(3329), PTPN11(5781), L1CAM(3897), GSS(2937), EIF2B1(1967), TRH(7200), FREM2(341640), MOCS2(4338), MOCS1(4337), TP63(8626), CDK5RAP2(55755), ALDH7A1(501), KRAS(3845), PTS(5805), SEMA3E(9723), MMACHC(25974), DUOXA2(405753), GRN(2896), ATP2A2(488)]
MENTAL RETARDATION (MODERATE TO SEVERE IN MALES)(HP:0002499)	[FMR1(2332)]
MENTAL RETARDATION BY AGE 30 YEARS(HP:0006833)	[CLN8(2055)]
MENTAL RETARDATION BY THE AGE OF 7 YEARS(HP:0007176)	[NBN(4683)]
MENTAL RETARDATION CAN OCCUR IN PATIENTS WITH REPEATED EPISODES OF DEHYDRATION(HP:0002482)	[AQP2(359), AVPR2(554)]
MENTAL RETARDATION DUE TO REPEATED EPISODES OF HYPOGLYCEMIA(HP:0002386)	[HADH(3033), GCK(2645), GLUD1(2746), ABCC8(6833)]
MENTAL RETARDATION IF UNTREATED(HP:0003767)	[BCKDHA(593), BCKDHB(594), DBT(1629), GALT(2592), DLD(1738)]
MENTAL RETARDATION, BORDERLINE(HP:0006889)	[PAK3(5063)]
MENTAL RETARDATION, BORDERLINE-MILD(HP:0007119)	[PAK3(5063), DNAJC19(131118)]
MENTAL RETARDATION, MILD(HP:0001256)	[FBN1(2200), MAOA(4128), MGP(4256), CRBN(51185), FLNA(2316), DNAJC19(131118), EYA1(2138), GLI3(2737), FGF14(2259), PTPN11(5781), SPG20(23111), SBDS(51119), PAK3(5063), GLB1(2720), BSCL2(26580), SHH(6469), PCNT(5116), BCOR(54880), DLAT(1737), LRP5(4041), TFAP2B(7021), BLM(641), TFAP2A(7020), MLC1(23209), AP3B1(8546), ATP2A2(488), GNPTG(84572), HPD(3242), DMD(1756), JAG1(182), ACTB(60)]
MENTAL RETARDATION, MILD TO MODERATE(HP:0002122)	[SNRPN(6638), CDK5RAP2(55755), PTEN(5728), KRAS(3845), MCPH1(79648), BRAF(673), MED12(9968), MAP2K1(5604), MAP2K2(5605), NDN(4692), FAM126A(84668), POMT1(10585), HSD17B10(3028)]
MENTAL RETARDATION, MILD TO SEVERE(HP:0002458)	[UPF3B(65109), HCCS(3052), ALDH5A1(7915), SLC12A6(9990), PTEN(5728), ASPM(259266), B3GALTL(145173), PRODH(5625), PAK3(5063)]
MENTAL RETARDATION, MODERATE(HP:0002342)	[CENPJ(55835), OPHN1(4983), ZEB2(9839), GPR56(9289), IL1RAPL1(11141), INPP5E(56623), PTEN(5728), NEU1(4758), FMR1(2332)]
MENTAL RETARDATION, MODERATE TO SEVERE(HP:0002316)	[OPHN1(4983), ZEB2(9839), GPR56(9289), NEU1(4758), FMR1(2332)]
MENTAL RETARDATION, NONSPECIFIC(HP:0002543)	[ARHGEF6(9459)]
MENTAL RETARDATION, PROFOUND(HP:0002187)	[FKRP(79147), FH(2271), LARGE(9215), ATIC(471), FGFR3(2261), MECP2(4204), STRA6(64220), HSPD1(3329), FKTN(2218), BUB1B(701), TREX1(11277), POMT1(10585), POMT2(29954)]
MENTAL RETARDATION, PROGRESSIVE(HP:0006887)	[PEX19(5824), FKRP(79147), DMPK(1760), DCX(1641), ATRX(546), LARGE(9215), PEX5(5830), ANCR(282), STRA6(64220), CC2D1A(54862), PRODH(5625), DNAJC19(131118), SLC16A2(6567), SLC35C1(55343), BUB1B(701), CDKL5(6792), MAPK10(5602), TREX1(11277), POMT1(10585), NKX2-5(1482), TK2(7084), PEX10(5192), PEX14(5195), PEX13(5194), TSHB(7252), PEX1(5189), L2HGDH(79944), MCPH1(79648), CTSD(1509), ACOX1(51), FKTN(2218), RAB3GAP2(25782), SLC9A6(10479), NAGA(4668), DMD(1756), MGAT2(4247), POMT2(29954), WHCR(7467), FH(2271), UPF3B(65109), EHMT1(79813), WHSC1(7468), ATIC(471), FGFR3(2261), MECP2(4204), HSPD1(3329), PHF6(84295), NDP(4693), UROC1(131669), UBE3A(7337), ASPM(259266), PAK3(5063), PEX26(55670), GCH1(2643), OPHN1(4983), PEX3(8504), PTS(5805), TUBA1A(7846), SNAP29(9342), OFD1(8481), KDM5C(8242), MTRR(4552)]
MEROSIN-POSITIVE BIOPSY(HP:0003708)	[RYR1(6261), SEPN1(57190)]
MESANGIAL ABNORMALITY(HP:0001966)	[PLCE1(51196), ADA(100), LAMB2(3913), WT1(7490)]
MESOMELIA(HP:0003027)	[NPR2(4882), TBX15(6913), GDF5(8200), ROR2(4920), SHOX(6473)]
METABOLIC ACIDOSIS(HP:0001942)	[BTD(686), FBP1(2203), AUH(549), MMAA(166785), LCT(3938), BCS1L(617), HMGCL(3155), MCCC1(56922), MUT(4594), SLC17A3(10786), GSS(2937), UQCRQ(27089), HLCS(3141), SLC5A1(6523), UQCRB(7381), ACADM(34), ACADS(35), MMAB(326625), SLC37A4(2542), MRPS22(56945), ALDOB(229), GK(2710), MMACHC(25974), PNPO(55163), WNK4(65266), PCCB(5096), INVS(27130), DPYS(1807), GFM1(85476), IVD(3712), OGDH(4967), MCEE(84693), HPD(3242), PDHX(8050), MLYCD(23417), HSD17B10(3028), PCCA(5095), GCDH(2639)]
METABOLIC ACIDOSIS, EPISODIC(HP:0004911)	[ACADS(35), MCCC1(56922)]
METABOLIC ACIDOSIS, SEVERE(HP:0004907)	[GFM1(85476), MRPS22(56945)]
METABOLIC KETOACIDOSIS(HP:0005979)	[BTD(686), MUT(4594)]
METABOLISM ABNORMALITY(HP:0001939)	[FBN1(2200), HIBCH(26275), SUCLG1(8802), A2M(2), FBP1(2203), TINF2(26277), VPS33B(26276), TRIM24(8805), SPINK5(11005), CCBE1(147372), NAT1(9), DPM1(8813), EDARADD(128178), SLC16A1(6566), SLC16A2(6567), TRPM6(140803), SLC22A5(6584), KCNQ1OT1(10984), FAH(2184), ABCA1(19), ABAT(18), HESX1(8820), ABCB7(22), FANCD2(2177), ABL1(25), FANCC(2176), FANCE(2178), ACADM(34), FECH(2235), ACADS(35), ACADL(33), ACAT1(38), ACADSB(36), ACADVL(37), NEUROG3(50674), SLC5A5(6528), SLC6A8(6535), ACOX1(51), FKTN(2218), MPO(4353), MPL(4352), SLC12A3(6559), MPV17(4358), ACP2(53), SLC12A1(6557), TNFRSF10B(8795), ACTA1(58), PUS1(80324), TNFRSF11A(8792), SNRPN(6638), FH(2271), LHX4(89884), FGB(2244), ACY1(95), SOD1(6647), EDAR(10913), FGA(2243), FES(2242), ADA(100), FOXE3(2301), FOXF1(2294), SMARCB1(6598), NDUFA11(126328), WNK1(65125), TRPV4(59341), SMPD1(6609), ABCA12(26154), ERCC2(2068), SFTPB(6439), ERCC3(2071), PHOX2B(8929), ERCC5(2073), ERCC4(2072), SGCB(6443), SGCA(6442), ERCC6(2074), SGCG(6445), SGSH(6448), MTHFR(4524), EPHX1(2052), BLOC1S3(388552), ADSL(158), CLN8(2055), SYCP3(50511), AGA(175), AFP(174), FTCD(10841), ETFDH(2110), ETFB(2109), ETFA(2108), NR0B1(190), AHCY(191), AGXT(189), AGL(178), WNT4(54361), OPA3(80207), JAG1(182), MYBPC3(4607), SQSTM1(8878), AK1(203), APOA5(116519), MYB(4602), EWSR1(2130), CEP290(80184), MVK(4598), SLC1A1(6505), MUT(4594), EIF2B2(8892), EIF2B5(8893), SLC3A1(6519), ALDH1A1(216), SLC2A1(6513), ALDH2(217), EIF2B4(8890), SLC17A3(10786), SLC2A2(6514), EIF2B3(8891), ETV1(2115), ALAS2(212), SLC5A2(6524), ABCD1(215), AKT2(208), SLC4A1(6521), PHGDH(26227), ALAD(210), SLC5A1(6523), SMARCAL1(50485), SHH(6469), F13B(2165), F13A1(2162), F12(2161), F11(2160), FANCA(2175), WISP3(8838), ALDOB(229), SI(6476), TSEN54(283989), ALDOA(226), ALDH3A2(224), WNK4(65266), F2(2147), MTRR(4552), ALPL(249), F9(2158), F10(2159), MTR(4548), SIM1(6492), F8(2157), MTTP(4547), F7(2155), F5(2153), AMT(275), MAOB(4129), SCN4A(6329), MAOA(4128), SCN9A(6335), NAGS(162417), SCN1A(6323), HPS5(11234), MAPT(4137), MAT1A(4143), ANK1(286), SLC6A19(340024), RNF139(11236), AMBP(259), SLC7A7(9056), AMELX(265), MC2R(4158), AMPD1(270), AMH(268), AMHR2(269), SC5DL(6309), TSPAN31(6302), AIP(9049), CHEK2(11200), PSTPIP1(9051), GNASAS(149775), DCAF17(80067), C10orf2(56652), FSHB(2488), SLC25A4(291), SLC17A5(26503), SEC63(11231), MAN2B1(4125), MANBA(4126), SLC6A20(54716), TREH(11181), APOB(338), APOA2(336), SDHD(6392), SDHC(6391), SDHB(6390), SDHA(6389), MECP2(4204), APOE(348), PDP1(54704), AMACR(23600), APOC2(344), AIRE(326), MEFV(4210), SPATA16(83893), APOA1(335), PDSS1(23590), FUCA2(2519), FUCA1(2517), MEN1(4221), FTL(2512), BSCL2(26580), SLC37A4(2542), CHST6(4166), ARAF(369), MC4R(4160), G6PD(2539), GLMN(11146), G6PC(2538), DARC(2532), ARG1(383), MCM6(4175), MCF2(4168), SLC7A9(11136), TMC8(147138), AQP2(359), PANK2(80025), APRT(353), FAS(355), GAA(2548), SCNN1G(6340), AR(367), UGT1A1(54658), SCNN1A(6337), SCNN1B(6338), LDB3(11155), ARSA(410), ARSB(411), LARGE(9215), STS(412), FLNC(2318), FLNA(2316), CIITA(4261), FLNB(2317), MITF(4286), FMO3(2328), FN1(2335), AFF2(2334), FMR1(2332), ASNS(440), MET(4233), ASPA(443), OSMR(9180), ASS1(445), ASL(435), L2HGDH(79944), ASAH1(427), ADAMTS13(11093), MGAT2(4247), ATP1A3(478), RYR2(6262), EGLN1(54583), RYR1(6261), ATP1A2(477), MN1(4330), ATM(472), ATIC(471), MPI(4351), SERPINC1(462), MOS(4342), FXN(2395), MOCS2(4338), MOCS1(4337), MLLT3(4300), FOXO4(4303), MLL(4297), MLLT1(4298), AFF1(4299), ALDH7A1(501), FCGR2C(9103), ANTXR2(118429), MMP2(4313), RPS14(6208), HPS4(89781), RPS19(6223), TBX19(9095), ATP2A1(487), FXYD2(486), TH(7054), PLCE1(51196), AVP(551), AUH(549), ATRX(546), GLUD1(2746), ATR(545), CLN6(54982), NRAS(4893), AVPR2(554), SLC25A38(54977), SLC11A2(4891), MCCC1(56922), GLI3(2737), DCXR(51181), B2M(567), THRB(7068), NPHS1(4868), GLDC(2731), NPHP1(4867), THPO(7066), GCLC(2729), NPC1(4864), NPPA(4878), GLB1(2720), TK2(7084), GLA(2717), EPX(8288), NKX2-1(7080), NTRK1(4914), CRTAP(10491), DYSF(8291), MRPS22(56945), ATP6V1B1(525), TIMP2(7077), GK(2710), SEC23B(10483), GTF2H5(404672), GJA1(2697), FST(10468), ATP7B(540), GIP(2695), GIF(2694), GH1(2688), AXIN1(8312), GHR(2690), ATP7A(538), SAR1B(51128), GP1BA(2811), MKKS(8195), OPN1SW(611), FBXO7(25793), GP9(2815), GP1BB(2812), OCA2(4948), NDRG1(10397), BCR(613), OCRL(4952), BCS1L(617), GPR143(4935), GNS(2799), GNRHR(2798), SBDS(51119), GNRH1(2796), TNFRSF1A(7132), OAT(4942), TNF(7124), GNAS(2778), TNFRSF11B(4982), BBS1(582), BBS2(583), TNNI3(7137), BBS4(585), GNAI2(2771), NIPBL(25836), BCKDHA(593), GM2A(2760), CCND1(595), TPBG(7162), BCKDHB(594), BCL2(596), OGDH(4967), TPI1(7167), OGG1(4968), TP53(7157), SDHAF1(644096), BTD(686), PLA2G6(8398), TBXAS1(6916), OXCT1(5019), HNF1A(6927), GATA1(2623), OTC(5009), BUB1B(701), GALT(2592), HNF1B(6928), GAMT(2593), SLC46A1(113235), BTK(695), TCIRG1(10312), PAH(5053), GALC(2581), TCN2(6948), NR0B2(8431), GALE(2582), SERPINE1(5054), GALNS(2588), GALNT3(2591), PSAT1(29968), BLM(641), GALK1(2584), TRA@(6955), BPGM(669), MKS1(54903), GABRG2(2566), SLC22A12(116085), P4HB(5034), GNPAT(8443), DMGDH(29958), MRPS16(51021), BMPR1A(657), BMPR2(659), POMT2(29954), PBX1(5087), GGCX(2677), B4GALT1(2683), PAX4(5078), ZMPSTE24(10269), PAX2(5076), GPHN(10243), CA2(760), GDF1(2657), PAPPA(5069), SAMD9(54809), GFAP(2670), GDNF(2668), C1QA(712), C1R(715), GCH1(2643), COQ9(57017), C2(717), GCK(2645), PCNT(5116), TERC(7012), TERT(7015), SOST(50964), C3(718), PCK1(5105), PCK2(5106), TF(7018), GCSH(2653), PCM1(5108), SERPING1(710), PCCB(5096), C6(729), C7(730), C8A(731), C8B(732), GBA(2629), C4A(720), GBE1(2632), APTX(54840), PC(5091), PCBD1(5092), TG(7038), GCDH(2639), PCCA(5095), C5(727), CABC1(56997), TGFA(7039), GULOP(2989), P2RY12(64805), GUSB(2990), SALL4(57167), AGPS(8540), CAPN3(825), MYF6(4618), FOXP3(50943), MYH11(4629), IKBKAP(8518), PDE11A(50940), GUCY2D(3000), MYH7(4625), STK11(6794), MYH9(4627), AURKC(6795), GYS2(2998), MYO7A(4647), MYO5B(4645), SLC25A20(788), MCOLN1(57192), SURF1(6834), MYLK2(85366), ABCC8(6833), LMF1(64788), CACNA1A(773), AP3B1(8546), CACNB2(783), NAGA(4668), NAGLU(4669), SUOX(6821), TCAP(8557), CACNA1F(778), ICOS(29851), CACNA1S(779), HBQ1(3049), HBG2(3048), HBZ(3050), SERPIND1(3053), HCCS(3052), UOX(391051), ALG6(29929), HBA2(3040), HBB(3043), NBN(4683), HBD(3045), CYP2R1(120227), HBG1(3047), HBE1(3046), NCF2(4688), PDSS2(57107), SERPINA6(866), NDN(4692), SPINT2(10653), NDUFA1(4694), NDUFA2(4695), FOXN1(8456), CBS(875), HCRT(3060), NEB(4703), GOPC(57120), SERPINA7(6906), TBCE(6905), CAV3(859), TBX1(6899), PEX3(8504), NDUFS1(4719), TAZ(6901), RUNX1(861), EBP(10682), TAP1(6890), NDUFS3(4722), TAP2(6891), NDUFV1(4723), NDUFS2(4720), HADHB(3032), HADH(3033), BBS7(55212), NDUFS6(4726), CLDN16(10686), HBA1(3039), TAPBP(6892), NDUFS4(4724), AGRN(375790), CASP10(843), NDUFS8(4728), CASP8(841), CASR(846), HADHA(3030), TAL1(6886), CAT(847), HSD17B10(3028), HAGH(3029), CD40(958), SLC4A4(8671), CD40LG(959), SLC19A2(10560), CD36(948), SCARB2(950), NDUFAF2(91942), ALDH4A1(8659), NPC2(10577), GPX1(2876), NSDHL(50814), ABCB11(8647), NEU1(4758), ANO5(203859), POMT1(10585), PTCH2(8643), SPTB(6710), SPTA1(6708), GPI(2821), NDUFAF3(25915), AKR1D1(6718), CD247(919), SRD5A2(6716), D2HGDH(728294), CD3E(916), CD3G(917), NF2(4771), PNPO(55163), GFM1(85476), SPINK1(6690), STX16(8675), SPR(6697), TNFSF11(8600), NGF(4803), GSN(2934), NME1(4830), GSS(2937), GSR(2936), CDH1(999), STAR(6770), STAT3(6774), TP63(8626), RFXANK(8625), MMACHC(25974), SSTR5(6755), PNP(4860), SLC34A3(142680), AGPAT2(10555), SLC35A1(10559), SPTLC1(10558), NR3C1(2908), FKRP(79147), MMADHC(27249), PPOX(5498), MCCC2(64087), HSD17B3(3293), HSD17B4(3295), H19(283120), DNAJC19(131118), HSD11B2(3291), SLC35C1(55343), GNMT(27232), COQ2(27235), DOLK(22845), CTSA(5476), PPIB(5479), MATR3(9782), UBR1(197131), HRG(3273), BBS9(27241), GNPTAB(79158), CHRNA1(1134), PPARG(5468), NOD2(64127), LYST(1130), SFTPA1(653509), C20orf7(79133), CHRNG(1146), CHRND(1144), POR(5447), PON1(5444), DISC2(27184), ZEB2(9839), BBS12(166379), CDKN1C(1028), POLG(5428), CDKN2A(1029), POLH(5429), CEACAM5(1048), CEBPE(1053), HOXA11(3207), POLA1(5422), C8orf38(137682), CES1(1066), HPRT1(3251), CNBP(7555), PNLIP(5406), CETP(1071), SFTPA2(729238), HPS1(3257), CFTR(1080), FASTKD2(22868), GNPTG(84572), HPD(3242), PRNP(5621), ZAP70(7535), TRIM32(22954), CCT5(22948), PRPS1(5631), PRODH(5625), PROC(5624), PROS1(5627), HMGCL(3155), PROP1(5626), TRIM33(51592), ZFY(7544), HMBS(3145), ABCC2(1244), HLCS(3141), PRKCSH(5589), ABCG8(64241), TLX1(3195), XDH(7498), ABCG5(64240), VMA21(203547), KISS1R(84634), PRKAR1A(5573), COL1A2(1278), RPIA(22934), HNF4A(3172), XPC(7508), ZNF469(84627), COL1A1(1277), XPA(7507), WHCR(7467), WFS1(7466), HK1(3098), WHSC1(7468), ERCC8(1161), HGD(3081), PPT1(5538), NCF1(653361), WRN(7486), HEXA(3073), PRCC(5546), HEXB(3074), CFH(3075), HFE(3077), NOP10(55505), CLCN7(1186), CLCN5(1184), BEST1(7439), SUFU(51684), VLDLR(7436), CLCNKB(1188), HLA-DRA(3122), VHL(7428), PPP1R3A(5506), VWF(7450), CLN5(1203), TPP1(1200), CLN3(1201), WAS(7454), MCEE(84693), HLA-A(3105), GOLGA5(9950), LEPRE1(64175), VCP(7415), CPT1A(1374), PGK1(5230), CPS1(1373), CPOX(1371), PGD(5226), CPN1(1369), PGAM2(5224), NSD1(64324), VDR(7421), GLRX5(51218), ESCO2(157570), CP(1356), PHB(5245), COX15(1355), PGR(5241), GNE(10020), UQCRB(7381), UPK3A(7380), CFP(5199), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), UROD(7389), PEX7(5191), UROS(7390), NT5C3(51251), IL2RG(3561), PEPD(5184), UQCRC1(7384), CRH(1392), SCO2(9997), PFKM(5213), UMPS(7372), SIL1(64374), ATP8B1(5205), PFKFB1(5207), CPT2(1376), UMOD(7369), PDHA1(5160), COL9A3(1299), PDGFB(5155), NHP2(55651), PDE6B(5158), TSFM(10102), PDGFRL(5157), COL6A1(1291), COL4A6(1288), COL7A1(1294), IGF1(3479), COL6A2(1292), COL6A3(1293), COL2A1(1280), IGF1R(3480), COL3A1(1281), COL4A4(1286), COL4A5(1287), SLC26A4(5172), TTC8(123016), PEX26(55670), COL4A3(1285), LMNB2(84823), POMGNT1(55624), VPS13B(157680), UBA1(7317), COX6B1(1340), SLC39A4(55630), PCSK1(5122), FLVCR2(55640), TYR(7299), CDAN1(146059), COMT(1312), IGKC(3514), CHD7(55636), SLC25A15(10166), PLOD1(5351), SLC25A13(10165), DIRC2(84925), CTH(1491), SERPINF2(5345), CTNNB1(1499), PLOD2(5352), CTNS(1497), IDS(3423), IYD(389434), TTR(7276), TTPA(7274), TTN(7273), PMM2(5373), AASS(10157), NKX2-5(1482), TST(7263), LRPPRC(10128), PKLR(5313), PKHD1(5314), TSPYL1(7259), PLAG1(5324), TSHB(7252), TSHR(7253), SP110(3431), VKORC1(79001), PLAT(5327), CYBA(1535), CYB5A(1528), TSC1(7248), PLA2G2A(5320), TSC2(7249), CFI(3426), CTSD(1509), PLG(5340), BCMO1(53630), PIK3CA(5290), HSPD1(3329), LMBRD1(55788), PRKAG2(51422), CRYAB(1410), TRH(7200), PITX3(5309), PITX2(5308), HR(55806), ALG3(10195), MMAB(326625), PHEX(5251), HYAL1(3373), PHKA1(5255), DCLRE1C(64421), PHKA2(5256), PHKB(5257), MCFD2(90411), CST3(1471), CSF3R(1441), SERPINA1(5265), PHYH(5264), PI3(5266), TPO(7173), MASTL(84930), PIGA(5277), TPMT(7172), DDB1(1642), RET(5979), DDB2(1643), MMAA(166785), DDC(1644), DCK(1633), DCTN1(1639), REN(5972), GCM2(9247), KIT(3815), REG1A(5967), KLKB1(3818), RHO(6010), KHK(3795), DYNC2H1(79659), RHAG(6005), MCPH1(79648), RFX5(5993), RFXAP(5994), DBT(1629), DAZ1(1617), KCNQ2(3785), DBH(1621), DBI(1622), NPHP4(261734), NDUFS7(374291), CYP11A1(1583), KCNJ11(3767), RARA(5914), RAPSN(5913), FGF23(8074), AAAS(8086), CYP27B1(1594), RAG2(5897), CYP27A1(1593), UROC1(131669), RAG1(5896), KCNJ2(3759), KCNJ1(3758), CYP21A2(1589), CYP19A1(1588), CYP17A1(1586), CYP11B2(1585), DTNBP1(84062), CYP11B1(1584), CYP2A6(1548), RBP4(5950), CYP1A2(1544), KAL1(3730), DICER1(23405), NDUFAF4(29078), CYBB(1536), KCNA1(3736), CYP2D6(1565), IGHR(8117), JAK2(3717), BBS10(79738), DOK7(285489), IVD(3712), TCL1A(8115), CYP2C19(1557), RB1(5925), ZFP57(346171), CYP2C9(1559), MLYCD(23417), AMN(81693), RPGR(6103), ARL6(84100), B4GALT7(11285), ITGB3(3690), ITGB4(3691), ITGB2(3689), CCDC6(8030), NCOA4(8031), TREX1(11277), CUBN(8029), KL(9365), DNM2(1785), ROM1(6094), LHX3(8022), DNMT3B(1789), ITGA2(3673), ITGA2B(3674), TMC6(11322), DIO1(1733), GRHPR(9380), DLAT(1737), DKC1(1736), DLD(1738), CFC1(55997), DOCK8(81704), PDHX(8050), PDX1(3651), ETHE1(23474), DMD(1756), HPS6(79803), ISCU(23479), DMP1(1758), ITGA6(3655), INSR(3643), ACAD9(28976), FLCN(201163), TNFRSF13B(23495), INS(3630), DHCR24(1718), RMRP(6023), DHFR(1719), DGUOK(1716), DHCR7(1717), DGCR(1714), OSTM1(28962), CYB5R3(1727), EPM2A(7957), ING1(3621), TNDM(7952), ITM2B(9445), HGSNAT(138050), ALG1(56052), DECR1(1666), ROBLD3(28956), TIMM8A(1678), EIF2AK3(9451), ATP6V0A2(23545), CLDN19(149461), MYOT(9499), LYZ(4069), SH2D1A(4068), BBS5(129880), SETX(23064), EDA(1896), SMAD4(4089), TYMP(1890), SMAD9(4093), PTGS1(5742), KIF1B(23095), PTH(5741), LRP2(4036), LRP5(4041), PTEN(5728), UPB1(51733), ALDH5A1(7915), LTC4S(4056), PTH1R(5745), PRSS1(5644), LMNA(4000), NPHS2(7827), MINPP1(9562), NHLRC1(378884), LMX1B(4010), PRPS2(5634), PSAP(5660), SLC26A2(1836), HBEGF(1839), LPL(4023), PRTN3(5657), BSND(7809), LPA(4018), NLGN4X(57502), TMPRSS15(5651), ATN1(1822), LHCGR(3973), LHB(3972), HPS3(84343), PSG1(5669), SLC26A3(1811), LIFR(3977), PSEN2(5664), DPYD(1806), LIPC(3990), DPYS(1807), LIPA(3988), ALMS1(7840), MOGS(7841), LMAN1(3998), CXCR4(7852), PAX8(7849), PEX19(5824), ABCD3(5825), PEX2(5828), LDLR(3949), EPB42(2038), PEX5(5830), STOM(2040), LCT(3938), PYGL(5836), PYGM(5837), UQCRQ(27089), ENO3(2027), SLC36A2(153201), LPIN1(23175), LAMB3(3914), LAMB1(3912), LAMB2(3913), LAMC2(3918), VPS13A(23230), QDPR(5860), EMD(2010), LAMA2(3908), LAMA3(3909), LCAT(3931), INVS(27130), LBR(3930), ELANE(1991), MRAP(56246), LAMP2(3920), KRT81(3887), DNAI1(27019), CDC73(79577), PTPN11(5781), L1CAM(3897), KRT86(3892), EIF2B1(1967), NPHP3(27031), KRT83(3889), KRT85(3891), KRT5(3852), NKX2-6(137814), KRT4(3851), KRT1(3848), NLRP3(114548), PTS(5805), SEMA3E(9723), SUMF1(285362), DUOXA2(405753), KRT16(3868), KLHDC8B(200942), KRT14(3861), KRT13(3860), KRT10(3858), KRT9(3857)]
METACARPAL DIAPHYSEAL ENDOSTEAL SCLEROSIS(HP:0006174)	[LRP5(4041)]
METACARPAL OSTEOLYSIS(HP:0001504)	[MMP2(4313)]
METACARPOPHALANGEAL JOINT HYPEREXTENSIBILITY(HP:0006099)	[PTPN11(5781), SOS1(6654)]
METACARPOPHALANGEAL SYNOSTOSES(HP:0005880)	[NOG(9241), GDF5(8200)]
METACHROMASIA OF WHITE BLOOD CELLS AND FIBROBLASTS(HP:0003653)	[HGSNAT(138050), GNS(2799)]
METACHROMATIC LEUKODYSTROPHY VARIANT(HP:0006926)	[PSAP(5660)]
METAPHYSEAL CHONDRODYSPLASIA(HP:0005871)	[SBDS(51119), PTH1R(5745)]
METAPHYSEAL CHONDRODYSPLASIA OF LONG BONES(HP:0006377)	[SBDS(51119)]
METAPHYSEAL CUPPING(HP:0003021)	[LBR(3930), RMRP(6023), ALPL(249), MMP13(4322)]
METAPHYSEAL CUPPING OF METACARPALS(HP:0006028)	[RMRP(6023)]
METAPHYSEAL DYSPLASIA(HP:0000948)	[RMRP(6023), SBDS(51119), PTH1R(5745)]
METAPHYSEAL ENCHONDROMATOSIS(HP:0005868)	[PTH1R(5745)]
METAPHYSEAL FLARING(HP:0003015)	[NPR2(4882), PCNT(5116), FGFR3(2261), NSD1(64324), PEX7(5191), MMP13(4322), COL11A2(1302), TFAP2A(7020), DDR2(4921), FLNA(2316), LIFR(3977), RMRP(6023), LBR(3930), SH3PXD2B(285590), PTH1R(5745)]
METAPHYSEAL WIDENING(HP:0003016)	[FBN1(2200), HSPG2(3339), NPR2(4882), FGFR3(2261), NSD1(64324), MMP13(4322), COL11A2(1302), FLNA(2316), CTNS(1497), RMRP(6023), MATN3(4148), SH3PXD2B(285590), COL2A1(1280), GNPTAB(79158), CANT1(124583), ACVR1(90), GLB1(2720), ANKH(56172), DYNC2H1(79659), PCNT(5116), WISP3(8838), GALNS(2588), PEX7(5191), LRP5(4041), TFAP2A(7020), DDR2(4921), LIFR(3977), LBR(3930), GJA1(2697), MMP2(4313), PTH1R(5745), BMPR1B(658), ATP7A(538)]
METAPHYSEAL WIDENING WITH SPURS(HP:0005088)	[ATP7A(538)]
METATARSAL DIAPHYSEAL ENDOSTEAL SCLEROSIS(HP:0008114)	[LRP5(4041)]
METATARSAL SYNOSTOSIS(HP:0008098)	[SALL1(6299), FBLN1(2192)]
METATARSUS VARUS(HP:0001840)	[PEX19(5824), FBN1(2200), FBN2(2201), ABCD3(5825), WHCR(7467), GUSB(2990), PEX2(5828), WHSC1(7468), PEX5(5830), MYH3(4621), NSD1(64324), GDF5(8200), DHCR7(1717), MYH8(4626), PEX26(55670), PEX10(5192), PEX14(5195), PEX13(5194), TNNI2(7136), PEX1(5189), PEX3(8504), TNNT3(7140), DDR2(4921), RAB3GAP2(25782), TPM2(7169), RAB23(51715)]
METHYLCOBALAMIN, CBL G, DEFICIENCY(HP:0008287)	[MTR(4548)]
METHYLMALONIC ACIDEMIA(HP:0002912)	[MMAB(326625), MMADHC(27249), MMAA(166785), MCEE(84693), LMBRD1(55788), MMACHC(25974), MUT(4594)]
MICROANGIOPATHIC HEMOLYTIC ANEMIA(HP:0001937)	[ADAMTS13(11093), CFH(3075)]
MICROBRACHYCEPHALY(HP:0002258)	[CDKL5(6792), ANCR(282), MECP2(4204), UBE3A(7337), NIPBL(25836)]
MICROBRACHYDACTYLY(HP:0005630)	[CHRNA1(1134), CHRNG(1146), CHRND(1144)]
MICROCEPHALY(HP:0000252)	[MYCN(4613), FBN1(2200), FKRP(79147), CENPJ(55835), ATRX(546), ATR(545), MYH3(4621), ANCR(282), DPM1(8813), ACE(1636), REN(5972), SLC16A2(6567), SLC35C1(55343), IKBKG(8517), ESCO2(157570), CDKL5(6792), FANCD2(2177), DOLK(22845), FANCC(2176), FANCE(2178), EMG1(10436), UBR1(197131), SC5DL(6309), SALL1(6299), ACADSB(36), PEX7(5191), LRP5(4041), B3GALTL(145173), SLC6A8(6535), MCOLN1(57192), MCPH1(79648), C10orf2(56652), FKTN(2218), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), AP3B1(8546), GJA1(2697), MPV17(4358), CREBBP(1387), POR(5447), SIL1(64374), PUS1(80324), CPT2(1376), ATP7A(538), PDHA1(5160), FH(2271), HCCS(3052), ZEB2(9839), FGFR1(2260), FGFR3(2261), NHP2(55651), NBN(4683), MECP2(4204), AAAS(8086), PHF6(84295), IGF1(3479), KCNJ2(3759), IGF1R(3480), UBE3A(7337), ASPM(259266), RELN(5649), PQBP1(10084), TBCE(6905), VPS13B(157680), TBX1(6899), PORCN(64840), NIPBL(25836), TUBA1A(7846), KDM5C(8242), SNAP29(9342), DPAGT1(1798), CHD7(55636), EP300(2033), SLC25A22(79751), ARSE(415), LARGE(9215), ERCC2(2068), ERCC3(2071), RPS6KA3(6197), ERCC6(2074), PLP1(5354), BUB1B(701), SOX2(6657), MTHFR(4524), TREX1(11277), PMM2(5373), POMT1(10585), PAH(5053), AGA(175), DLAT(1737), DKC1(1736), SP110(3431), PSAT1(29968), BLM(641), PNPO(55163), CTSD(1509), MKS1(54903), AGTR1(185), ARX(170302), GFM1(85476), GNPAT(8443), PDHX(8050), KIAA1279(26128), AGT(183), RAB3GAP1(22930), XPA(7507), SPR(6697), GAD1(2571), POMT2(29954), WHCR(7467), CD96(10225), EHMT1(79813), WHSC1(7468), SIX3(6496), ERCC8(1161), MVK(4598), HSPD1(3329), PAX3(5077), EIF2B2(8892), DHCR24(1718), EIF2B5(8893), PPT1(5538), DGUOK(1716), DHCR7(1717), L1CAM(3897), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), FAM20C(56975), DYM(54808), CYB5R3(1727), EIF2B1(1967), FREM2(341640), PAK3(5063), PHGDH(26227), NOP10(55505), FRAS1(80144), SHH(6469), ALG3(10195), ALG1(56052), PCNT(5116), FANCA(2175), CDK5RAP2(55755), TSEN54(283989), SEMA3E(9723), TFAP2A(7020), MMACHC(25974), EIF2AK3(9451), ATP6V0A2(23545), GBA(2629)]
MICROCEPHALY, ACQUIRED(HP:0000259)	[ARX(170302), SLC2A1(6513), DOLK(22845), HSPD1(3329), PSAT1(29968), DPM1(8813)]
MICROCEPHALY, MILD(HP:0001366)	[GFM1(85476), PORCN(64840), UBR1(197131)]
MICROCEPHALY, POSTNATAL(HP:0005484)	[PPT1(5538), CDKL5(6792), ANCR(282), MECP2(4204), UBE3A(7337)]
MICROCEPHALY, PROGRESSIVE(HP:0000253)	[PPT1(5538), SLC25A22(79751), SNAP29(9342), TREX1(11277), MECP2(4204), PNPO(55163)]
MICROCORNEA(HP:0000482)	[CTDP1(9150), HSPG2(3339), PLOD1(5351), NHS(4810), BEST1(7439), TBX15(6913), BCOR(54880), ERCC6(2074), NIPBL(25836), LMX1B(4010), FOXL2(668), GJA8(2703), GJA1(2697), RECQL4(9401), RAB23(51715), RAB3GAP1(22930), PITX2(5308)]
MICROCYTIC ANEMIA(HP:0001935)	[ATRX(546), ABCB7(22), PUS1(80324), HBB(3043), SMPD1(6609), DNAJC19(131118)]
MICRODONTIA(HP:0000691)	[NOP10(55505), SMARCAL1(50485), TRPS1(7227), TP63(8626), NHP2(55651), EDARADD(128178), EYA1(2138), CDH3(1001), EDA(1896), GJA1(2697), FGF3(2248), CHST3(9469), RECQL4(9401), AMELX(265), EDAR(10913), PVRL1(5818), MSX1(4487)]
MICROGLOSSIA(HP:0000171)	[TBX15(6913), GLI3(2737)]
MICROGNATHIA(HP:0000210)	[MYCN(4613), FBN1(2200), TBX4(9496), FBN2(2201), FKRP(79147), ATRX(546), ATR(545), TGFBR1(7046), MYH3(4621), HSD17B4(3295), H19(283120), GLI3(2737), ESCO2(157570), GLE1(2733), MYH8(4626), EMG1(10436), SC5DL(6309), CHRNA1(1134), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), B3GALTL(145173), ROR2(4920), DDR2(4921), RAB3GAP2(25782), GJA1(2697), CHRNG(1146), CHRNE(1145), CREBBP(1387), CHRND(1144), PUS1(80324), PTH1R(5745), ADAMTS2(9509), LMNA(4000), RAPSN(5913), NBN(4683), MECP2(4204), COL11A2(1302), COL11A1(1301), SLC26A2(1836), IGF1(3479), FGF3(2248), CECR(1055), GPC6(10082), KCNJ2(3759), PQBP1(10084), PEX26(55670), FOXC2(2303), TBCE(6905), POMGNT1(55624), VPS13B(157680), UBA1(7317), TNNI2(7136), TBX1(6899), PEX3(8504), TNNT3(7140), NIPBL(25836), LIFR(3977), RUNX2(860), OFD1(8481), KDM5C(8242), FAM123B(139285), DOK7(285489), DPAGT1(1798), CHD7(55636), ERBB3(2065), PEX19(5824), EP300(2033), PLA2G6(8398), ABCD3(5825), PEX2(5828), TBX15(6913), PEX5(5830), STRA6(64220), ERCC6(2074), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), SOX9(6662), BUB1B(701), DNMT3B(1789), BMP4(652), D2HGDH(728294), MKS1(54903), GNPAT(8443), RECQL4(9401), COL1A1(1277), CTSK(1513), HSPG2(3339), TRPS1(7227), WHCR(7467), CD96(10225), WHSC1(7468), ZMPSTE24(10269), PTPN11(5781), MED12(9968), DHCR24(1718), DHCR7(1717), DGCR(1714), WNT3(7473), SH3PXD2B(285590), ALG1(56052), KRAS(3845), HYLS1(219844), TFAP2A(7020), SEMA3E(9723), SHOX(6473), MMP2(4313), GBA(2629), TPM2(7169)]
MICROMELIA(HP:0002983)	[SLC26A2(1836), LBR(3930), TRIP11(9321), CRTAP(10491), ALPL(249), PTH1R(5745), NIPBL(25836)]
MICROMELIC DWARFISM(HP:0008869)	[SLC35D1(23169)]
MICRONODULAR CIRRHOSIS(HP:0001413)	[MET(4233), DGUOK(1716), MPV17(4358), PIK3CA(5290), CASP8(841), POLG(5428), TP53(7157), CTNNB1(1499), AXIN1(8312), PDGFRL(5157), C10orf2(56652)]
MICROPENIS(HP:0000054)	[DCX(1641), ATRX(546), BBS5(129880), TRIM32(22954), ARL6(84100), TBX3(6926), ERCC6(2074), GLI3(2737), BUB1B(701), SOX2(6657), UBR1(197131), BBS9(27241), BMP4(652), SRD5A2(6716), ROR2(4920), DCAF17(80067), MKS1(54903), RAB3GAP2(25782), POR(5447), MKKS(8195), SNRPN(6638), HCCS(3052), ERCC8(1161), INPP5E(56623), CEP290(80184), BBS12(166379), PTPN11(5781), CUL4B(8450), DHCR7(1717), PHF6(84295), NDN(4692), HOXA13(3209), FREM2(341640), TTC8(123016), FRAS1(80144), TBCE(6905), UBA1(7317), BBS1(582), KAL1(3730), BBS2(583), OPHN1(4983), TP63(8626), BBS4(585), SEMA3E(9723), BBS10(79738), OFD1(8481), KDM5C(8242), BBS7(55212), AR(367), CHD7(55636)]
MICROPHTHALMOS(HP:0000568)	[FKRP(79147), LARGE(9215), TBX15(6913), ERCC3(2071), SALL4(57167), STRA6(64220), ERCC6(2074), GLI3(2737), ESCO2(157570), IKBKG(8517), ALX3(257), SOX2(6657), PTCH1(5727), FANCD2(2177), RPGRIP1L(23322), FANCC(2176), FANCE(2178), POMT1(10585), MFRP(83552), TCOF1(6949), BMP4(652), TMEM216(51259), BCOR(54880), LRP5(4041), FOXL2(668), FKTN(2218), MKS1(54903), GJA1(2697), RECQL4(9401), RAB3GAP1(22930), POMT2(29954), NHS(4810), HCCS(3052), OCRL(4952), PAX2(5076), NDP(4693), RAX(30062), CECR(1055), WNT3(7473), FREM2(341640), FRAS1(80144), FOXC2(2303), SHH(6469), FOXE3(2301), BEST1(7439), FANCA(2175), PORCN(64840), HYLS1(219844), TFAP2A(7020), SIX6(4990), EBP(10682)]
MICRORETROGNATHIA(HP:0000308)	[OFD1(8481), GLI3(2737)]
MICROSCOPIC HEMATURIA(HP:0002907)	[CLCN5(1184), ADAMTS13(11093), MYH9(4627), FN1(2335), COL4A5(1287), CTNS(1497)]
MICROSPHEROCYTOSIS(HP:0004835)	[SPTA1(6708)]
MICROSTOMIA(HP:0000160)	[TCOF1(6949), HSPG2(3339), RAPSN(5913), TP63(8626), CCBE1(147372), MYH3(4621), TNNI2(7136), MECP2(4204), PTEN(5728), TNNT3(7140), ZMPSTE24(10269), B4GALT7(11285), FLNA(2316), COL7A1(1294), GJA1(2697), DOK7(285489), GBA(2629), CHRNG(1146), TPM2(7169), RECQL4(9401), PQBP1(10084)]
MICROTIA(HP:0000393)	[HOXA2(3199), FKRP(79147), FRAS1(80144), SALL1(6299), LARGE(9215), TFAP2A(7020), EYA1(2138), GLI3(2737), FKTN(2218), FGF3(2248), FREM2(341640), POMT1(10585), POMT2(29954)]
MICROVESICULAR STEATOSIS(HP:0001414)	[UQCRB(7381), ACAD9(28976), UQCRQ(27089), BCS1L(617), POLG(5428), DNAJC19(131118), MCCC1(56922)]
MIDCLAVICULAR APLASIA(HP:0006638)	[PORCN(64840)]
MIDCLAVICULAR HYPOPLASIA(HP:0006608)	[PORCN(64840)]
MIDDLE AGE ONSET(HP:0003596)	[PHKA1(5255)]
MIDDLE EAR MALFORMATIONS(HP:0008609)	[FRAS1(80144), FREM2(341640)]
MIDFACE CAPILLARY HEMANGIOMA(HP:0007452)	[ESCO2(157570), RECQL4(9401)]
MIDFRONTAL CAPILLARY HEMANGIOMA(HP:0007466)	[MGAT2(4247)]
MIDLINE CENTRAL NERVOUS SYSTEM LIPOMAS(HP:0006866)	[ALX3(257)]
MIDLINE DEFECT OF MANDIBLE(HP:0010753)	[KCNJ2(3759), FLNA(2316)]
MIDLINE DEFECT OF THE NOSE(HP:0004122)	[FRAS1(80144), ALX3(257), BCOR(54880), FREM2(341640), HYLS1(219844), EFNB1(1947)]
MIDLINE FACIAL CAPILLARY HEMANGIOMA(HP:0007601)	[GLI3(2737)]
MIDLINE NASAL GROOVE(HP:0004112)	[FRAS1(80144), FREM2(341640)]
MIDLINE SKIN DIMPLES OVER ANTERIOR/POSTERIOR FONTANELLES(HP:0005498)	[UBR1(197131)]
MIDNASAL ATRESIA OR STENOSIS(HP:0010642)	[SHH(6469)]
MIDNASAL STENOSIS(HP:0010644)	[SHH(6469)]
MIGRAINE(HP:0002076)	[ATP1A2(477), CACNA1A(773), ENG(2022), SCN1A(6323), COL4A1(1282), ACVRL1(94), EDNRA(1909), POLG(5428), NOTCH3(4854), C10orf2(56652)]
MIGRAINE WITH AURA(HP:0002077)	[ATP1A2(477), SCN1A(6323), COL4A1(1282), EDNRA(1909)]
MIGRAINE WITHOUT AURA(HP:0002083)	[EDNRA(1909)]
MILD ANEMIA(HP:0001926)	[CP(1356), GSS(2937), HBA2(3040), AASS(10157), HBB(3043)]
MILD ANTERIOR BEAKING OF LUMBAR VERTEBRAE(HP:0008430)	[GLB1(2720)]
MILD BRACHYDACTYLY(HP:0001189)	[PAPSS2(9060), EVC(2121)]
MILD CLAVICULAR SCLEROSIS(HP:0006648)	[LRP5(4041)]
MILD CORTICAL ATROPHY ON CT OR MRI(HP:0006823)	[CDKL5(6792), ANCR(282), MECP2(4204), UBE3A(7337)]
MILD ELEVATION OF CHOLESTEROL(HP:0008359)	[PHKA2(5256)]
MILD ELEVATION OF TRIGLYCERIDES(HP:0008174)	[PHKA2(5256)]
MILD FACIAL ASYMMETRY(HP:0003775)	[KCNJ2(3759)]
MILD FINGER CONTRACTURES(HP:0006218)	[LAMB3(3914), ITGB4(3691), LAMC2(3918), COL17A1(1308), LAMA3(3909)]
MILD FRONTAL BOSSING(HP:0001359)	[FGFR3(2261)]
MILD GROWTH DEFICIENCY(HP:0008860)	[TRPS1(7227)]
MILD HEMOLYTIC ANEMIA(HP:0001910)	[GSS(2937), HBA2(3040), HBB(3043)]
MILD HEPATOMEGALY(HP:0001398)	[SGSH(6448), HGSNAT(138050), GNS(2799), GALNS(2588), NAGLU(4669), GLB1(2720)]
MILD HYPERAMMONEMIA(HP:0008334)	[BTD(686)]
MILD HYPERTHYROIDISM(HP:0008241)	[THRB(7068)]
MILD HYPERTRIGLYCERIDEMIA(HP:0008332)	[FECH(2235), APOE(348)]
MILD HYPOCHROMIC MICROCYTIC ANEMIA(HP:0004842)	[ATRX(546)]
MILD IRREGULARITY OF VERTEBRAL ENDPLATES(HP:0004583)	[COMP(1311)]
MILD JOINT CONTRACTURES(HP:0005053)	[UBA1(7317), LMNA(4000), POMT1(10585)]
MILD JOINT HYPERMOBILITY(HP:0005034)	[COL1A2(1278), COL1A1(1277)]
MILD JOINT STIFFNESS(HP:0003033)	[SGSH(6448), HGSNAT(138050), GNS(2799), NAGLU(4669)]
MILD LOCALIZED PIGMENTATION ABNORMALITIES(HP:0007622)	[EDA(1896)]
MILD MANDIBULAR PROGNATHISM(HP:0004656)	[PTCH1(5727), EYA1(2138)]
MILD MAXILLARY HYPOPLASIA(HP:0004644)	[RAB3GAP2(25782)]
MILD MENTAL DETERIORATION(HP:0007264)	[CSTB(1476)]
MILD METABOLIC ACIDOSIS(HP:0004895)	[ACADM(34)]
MILD METAPHYSEAL IRREGULARITIES(HP:0005065)	[MATN3(4148)]
MILD MICROGNATHIA(HP:0000330)	[FKRP(79147), POMGNT1(55624), VPS13B(157680)]
MILD MOTOR DEVELOPMENT DELAY(HP:0006909)	[AP3B1(8546), PHKA2(5256)]
MILD NEUROSENSORY HEARING LOSS(HP:0008587)	[MFN2(9927)]
MILD OBSTRUCTIVE LUNG DISEASE(HP:0006512)	[GLA(2717)]
MILD OSTEOPENIA(HP:0002799)	[TRPS1(7227), COL1A2(1278), COL1A1(1277)]
MILD PERIPHERAL NEUROPATHY MAY OCCUR(HP:0007088)	[TTR(7276)]
MILD PLATYSPONDYLY(HP:0002940)	[COL2A1(1280), MMP13(4322), COL11A2(1302), COL11A1(1301), GLB1(2720), ATP7A(538)]
MILD PORTAL FIBROSIS(HP:0006580)	[LBR(3930)]
MILD SHORT STATURE(HP:0003502)	[LBR(3930), COL9A3(1299), COL9A2(1298), EVC(2121)]
MILD SHORT-LIMB DWARFISM(HP:0008880)	[COMP(1311)]
MILD SHORTENING OF METACARPALS(HP:0006047)	[SLC26A2(1836), VPS13B(157680)]
MILD SPLENOMEGALY(HP:0001745)	[JAK2(3717), SGSH(6448), GP1BA(2811), MPL(4352), HGSNAT(138050), GNS(2799), THPO(7066), NAGLU(4669), GNPTAB(79158)]
MILD SPONDYLOEPIPHYSEAL DYSPLASIA(HP:0002776)	[COL2A1(1280), COL11A1(1301)]
MILD SPONDYLORHIZOMELIC DWARFISM(HP:0008852)	[IDS(3423)]
MILD THORACIC SCOLIOSIS(HP:0004615)	[VPS13B(157680)]
MILD THROMBOCYTOPENIA(HP:0001906)	[LBR(3930), GP1BA(2811), GP9(2815), GP1BB(2812), SALL4(57167), APOE(348)]
MILD TO MODERATE IMPROVING CONTRACTURES(HP:0005189)	[UBA1(7317)]
MILD TO MODERATE JOINT LIMITATION(HP:0003101)	[ERCC8(1161), ERCC6(2074)]
MILD TO MODERATE LEARNING DIFFICULTIES(HP:0007234)	[SHH(6469), DGCR(1714), TBX1(6899)]
MILD TO MODERATE SHORT STATURE(HP:0003503)	[HOXD13(3239), COMP(1311), FGD1(2245), COL1A2(1278), COL1A1(1277), RUNX2(860)]
MILD VERTEBRAL ANOMALIES(HP:0005719)	[MED12(9968)]
MILD VERTEBRAL BODY SCLEROSIS(HP:0004578)	[LRP5(4041)]
MILD, LATERAL FEMORAL BOWING(HP:0005022)	[FLNA(2316)]
MILD-MODERATE BRUISABILITY(HP:0007433)	[MASTL(84930)]
MILD-MODERATE FATIGABLE WEAKNESS OF LIMB MUSCLES(HP:0003473)	[CHAT(1103)]
MILD-MODERATE HYPERAMMONEMIA(HP:0008308)	[HLCS(3141)]
MILD-MODERATE VENTRICULAR DILATATION(HP:0007071)	[TBCE(6905)]
MILD-SEVERE POSTNATAL GROWTH DEFICIENCY(HP:0008844)	[ESCO2(157570)]
MILD-TO-MODERATE GROWTH DEFICIENCY(HP:0008901)	[EBP(10682)]
MILD-TO-MODERATE THROMBOCYTOPENIA(HP:0008302)	[MYH9(4627)]
MILD/SEVERE SKIN HYPOPIGMENTATION(HP:0005589)	[LYST(1130)]
MILDLY COARSE FACIES(HP:0000281)	[SGSH(6448), ARSB(411), HGSNAT(138050), GNS(2799), GALNS(2588), NAGLU(4669), SUMF1(285362), GNPTAB(79158), GLB1(2720)]
MILDLY DELAYED DEVELOPMENTAL MILESTONES(HP:0007174)	[CRBN(51185)]
MILDLY ELEVATED CREATINE PHOSPHOKINASE(HP:0008180)	[COL9A3(1299)]
MILDLY EXTENSIBLE SKIN(HP:0007578)	[ATP7A(538)]
MILDLY INCREASED SERUM CREATINE KINASE(HP:0003211)	[DOK7(285489), LMNA(4000), AGRN(375790), POLG(5428), C10orf2(56652)]
MILDLY INCREASED SERUM LACTATE(HP:0003638)	[SDHA(6389), POLG(5428), SDHAF1(644096), C10orf2(56652)]
MILDLY PROLONGED BLEEDING TIME 10-12 MINUTES(HP:0008294)	[MYH9(4627)]
MILDLY REDUCED VISUAL ACUITY(HP:0007739)	[RBP4(5950), FRMD7(90167)]
MILIA(HP:0001056)	[LAMB3(3914), ITGB4(3691), KRT5(3852), OFD1(8481), COL7A1(1294), LAMC2(3918), PTCH1(5727), KRT14(3861), PLEC(5339), ITGA6(3655), LAMA3(3909)]
MINERALOCORTICOID INSUFFICIENCY(HP:0008190)	[AAAS(8086), NR0B1(190)]
MINICORE (MULTICORE) MYOPATHY(HP:0003789)	[RYR1(6261), SEPN1(57190)]
MINICORE REGIONS ARE POORLY DEFINED AND DO NOT EXTEND THROUGH ENTIRE FIBER LENGTH(HP:0003804)	[RYR1(6261), SEPN1(57190)]
MINIMAL SPLENOMEGALY(HP:0006269)	[GNPTAB(79158)]
MINIMAL SUBCUTANEOUS FAT(HP:0003717)	[FBN1(2200)]
MINOR FACIAL DYSMORPHISM(HP:0004675)	[PEX2(5828), PEX1(5189), PEX26(55670), MANBA(4126)]
MINOR FEET ANOMALIES(HP:0010613)	[MAP2K1(5604), MAP2K2(5605), EP300(2033), CD96(10225), HRAS(3265), PTCH1(5727), CREBBP(1387), KRAS(3845), ERCC6(2074), BRAF(673)]
MINOR HAND ANOMALIES(HP:0003098)	[PTCH1(5727)]
MINUTE, GRAY, PUNCTATE CORNEAL OPACITIES(HP:0008004)	[CHST6(4166)]
MIOSIS(HP:0000616)	[PHYH(5264), DDC(1644), NME1(4830), PEX7(5191), SIX6(4990)]
MIRROR HAND MOVEMENTS (BIMANUAL SYNKINESIA)(HP:0001335)	[KAL1(3730), DCC(1630)]
MISALIGNMENT OF TEETH(HP:0000692)	[FBN1(2200), PLOD1(5351), EP300(2033), BBS5(129880), TRIM32(22954), RPS6KA3(6197), ATR(545), ARL6(84100), ERCC6(2074), FLNA(2316), SH3BP2(6452), ADAMTS10(81794), BBS9(27241), GPC3(2719), BCOR(54880), LRP5(4041), ROR2(4920), ENAM(10117), LBR(3930), MKS1(54903), RAB3GAP2(25782), GJA1(2697), CHRNE(1145), CREBBP(1387), PTH1R(5745), CHRNB1(1140), MKKS(8195), TRPS1(7227), LMNA(4000), ZEB2(9839), RAPSN(5913), ERCC8(1161), FGFR1(2260), CEP290(80184), FGFR2(2263), BBS12(166379), MUSK(4593), ZMPSTE24(10269), MED12(9968), PTPN11(5781), CA2(760), TRIM37(4591), DHCR7(1717), SH3PXD2B(285590), CBS(875), FREM2(341640), TTC8(123016), FRAS1(80144), BBS1(582), SOST(50964), BBS2(583), BBS4(585), PORCN(64840), BBS10(79738), FAM123B(139285), BBS7(55212), HOXD13(3239)]
MISSHAPEN TEETH(HP:0000697)	[FBN1(2200), GJA1(2697), ADAMTS10(81794), EDAR(10913), EDARADD(128178)]
MISSING RIBS(HP:0000921)	[PTPN11(5781), LBR(3930), SOX9(6662), SOX2(6657), ATR(545), ROR2(4920), FLNB(2317)]
MITOCHONDRIAL ENCEPHALOPATHY(HP:0006789)	[UQCRB(7381), UQCRQ(27089), BCS1L(617)]
MITOCHONDRIAL INHERITANCE(HP:0001427)	[NDUFS7(374291), FH(2271), SLC19A2(10560), SDHA(6389), BCS1L(617), TSFM(10102), NDUFAF2(91942), MTM1(4534), DGUOK(1716), CEBPE(1053), ALDH2(217), COX15(1355), TTN(7273), NDUFA1(4694), NDUFA2(4695), UQCRQ(27089), C8orf38(137682), UQCRB(7381), TK2(7084), NDUFAF3(25915), COX6B1(1340), MRPS22(56945), NDUFA11(126328), DLD(1738), NDUFAF4(29078), NDUFS1(4719), NUP62(23636), SURF1(6834), C10orf2(56652), PCCB(5096), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), NDUFS6(4726), C20orf7(79133), GFM1(85476), IVD(3712), MPV17(4358), NDUFS4(4724), FASTKD2(22868), NDUFS8(4728), MRPS16(51021), LAMP2(3920), PC(5091), MLYCD(23417), PCCA(5095)]
MITOCHONDRIAL MYOPATHY(HP:0003737)	[PUS1(80324), TYMP(1890), POLG(5428), UQCRC1(7384)]
MITOCHONDRIAL MYOPATHY, SEVERE(HP:0008960)	[POLG(5428)]
MITOCHONDRIAL PROPIONYL-COA CARBOXYLASE (PCC) DEFECT(HP:0003288)	[PCCB(5096), PCCA(5095)]
MITRAL REGURGITATION(HP:0001653)	[FBN1(2200), FBN2(2201), ELN(2006), AGA(175), FBLN5(10516), RPS6KA3(6197), COL1A2(1278), POLG(5428)]
MITRAL STENOSIS(HP:0001718)	[ADAMTSL2(9719), GBA(2629), ABCC6(368)]
MITRAL STENOSIS DUE TO CALCIFICATIONS(HP:0005149)	[GBA(2629)]
MITRAL VALVE CALCIFICATION(HP:0004382)	[FBN1(2200), HGD(3081), GBA(2629)]
MITRAL VALVE PROLAPSE(HP:0001634)	[FBN1(2200), FBN2(2201), VPS13B(157680), TNXB(7148), ABCC6(368), BCOR(54880), TGFBR1(7046), POLG(5428), FLNA(2316), VWF(7450), PTPN11(5781), COL5A2(1290), SOS1(6654), COL5A1(1289), HRAS(3265), COL1A2(1278), COL2A1(1280), ZNF469(84627), COL3A1(1281), CBS(875), COL1A1(1277), FMR1(2332)]
MITTEN DEFORMITY(HP:0004057)	[COL7A1(1294)]
MIXED DEMYELINATING AND AXONAL POLYNEUROPATHY(HP:0007327)	[ATP7B(540)]
MIXED HEARING LOSS(HP:0000410)	[ANKH(56172), FGF10(2255), PORCN(64840), FGFR3(2261), MGP(4256), COL11A2(1302), SEMA3E(9723), CHD7(55636), EYA1(2138), FLNB(2317)]
MIXED HYPO- AND HYPERPIGMENTATION OF THE SKIN(HP:0009123)	[SMARCAL1(50485), ADAR(103), MSH2(4436), MSH6(2956), MMP2(4313), STK11(6794), MLH1(4292), PMS2(5395), MEN1(4221), TSC1(7248), TSC2(7249)]
MODERATE DIFFUSE SKELETAL MUSCLE WASTING(HP:0008977)	[TIMM8A(1678)]
MODERATE TO SEVERE ACNE(HP:0005596)	[FGFR2(2263)]
MODERATE-TO-SEVERE THROMBOCYTOPENIA(HP:0008268)	[MYH9(4627)]
MODERATELY DEPRESSED ANTIBODY RESPONSE TO POLYSACCHARIDE ANTIGENS(HP:0002848)	[WAS(7454)]
MODERATELY SEVERE IMMUNODEFICIENCY(HP:0005371)	[CD3E(916)]
MODERATELY SHORT STATURE(HP:0008848)	[HOXD13(3239), RUNX2(860)]
MOLLUSCOID PSEUDOTUMORS(HP:0000993)	[COL5A2(1290), PLOD1(5351), COL5A1(1289), ZNF469(84627), COL1A1(1277), COL3A1(1281)]
MOLYBDENUM COFACTOR DEFICIENCY(HP:0003570)	[GPHN(10243), MOCS2(4338), MOCS1(4337)]
MONDINI MALFORMATION(HP:0000376)	[EYA1(2138)]
MONODACTYLY(HP:0004058)	[SHFM1(7979)]
MOOD ALTERATIONS(HP:0001296)	[PRNP(5621), ARSA(410), ATP1A3(478), PGK1(5230), ZFYVE26(23503), DDC(1644), BCS1L(617), POLG(5428), SLC6A19(340024), EIF2B2(8892), MED12(9968), EIF2B5(8893), SPG20(23111), CUL4B(8450), PDE11A(50940), IKBKAP(8518), EIF2B4(8890), EIF2B3(8891), UQCRQ(27089), EIF2B1(1967), UQCRB(7381), SLC39A4(55630), VPS13A(23230), NTRK1(4914), AIP(9049), CLN3(1201), PRKAR1A(5573)]
MOOD CHANGES(HP:0001575)	[PDE11A(50940), PRKAR1A(5573), VPS13A(23230)]
MOOD SWINGS(HP:0000720)	[ZFYVE26(23503), CUL4B(8450)]
MORPHOLOGICAL ABNORMALITIES OF THE GLOMERULI(HP:0000095)	[PLCE1(51196), LMX1B(4010), PDSS2(57107), FAH(2184), IKBKAP(8518), PRTN3(5657), BSND(7809), HNF1B(6928), SBDS(51119), SLC17A3(10786), COQ2(27235), PDSS1(23590), KCNJ1(3758), CFH(3075), SMARCAL1(50485), LMNB2(84823), COQ9(57017), SLC37A4(2542), CLCN5(1184), C3(718), CLCNKB(1188), G6PC(2538), WT1(7490), CFI(3426), SLC12A1(6557), C4A(720), APTX(54840), CABC1(56997)]
MOTOR AND SENSORY NEUROPATHY(HP:0007142)	[SPG11(80208)]
MOTOR APHASIA(HP:0002427)	[GRN(2896), GJB1(2705)]
MOTOR DETERIORATION(HP:0002333)	[GALC(2581), CLN5(1203), CLN6(54982), MECP2(4204)]
MOTOR DEVELOPMENTAL MILESTONES NOT ACHIEVED(HP:0006950)	[GJC2(57165)]
MOTOR POLYNEUROPATHY(HP:0007178)	[GJC2(57165), SLC12A6(9990)]
MOTOR RETARDATION(HP:0001270)	[SH3TC2(79628), TH(7054), FBN2(2201), FKRP(79147), DCX(1641), ANCR(282), VDR(7421), MYF6(4618), NPHP1(4867), CDKL5(6792), COQ2(27235), PTCH1(5727), TK2(7084), CHRNA1(1134), MYO7A(4647), SEPN1(57190), NKX2-1(7080), ACADSB(36), PTEN(5728), SLC6A8(6535), ABCC8(6833), FKTN(2218), MPZ(4359), AP3B1(8546), CHRNE(1145), CHRND(1144), SLC12A6(9990), CHRNB1(1140), ADAMTS2(9509), KCNJ11(3767), RAPSN(5913), ZEB2(9839), FGFR3(2261), MECP2(4204), PRPS2(5634), PDSS2(57107), COL6A1(1291), KCNC3(3748), CYP27B1(1594), IGF1(3479), BSND(7809), FGF3(2248), COL6A2(1292), COL6A3(1293), PDSS1(23590), IGF1R(3480), COL2A1(1280), UBE3A(7337), NEB(4703), HPRT1(3251), VPS13B(157680), COX6B1(1340), TNNT1(7138), TUBA1A(7846), FASTKD2(22868), PMP22(5376), HSD17B10(3028), PLOD1(5351), ATL1(51062), NEFL(4747), PRPS1(5631), FLNA(2316), TTN(7273), ALS2(57679), FAM126A(84668), ATP6AP2(10159), DNM2(1785), POMT1(10585), GALE(2582), DLAT(1737), TSHR(7253), MTMR2(8898), FGD4(121512), LAMA2(3908), PRX(57716), ASAH1(427), MLC1(23209), GFM1(85476), COL1A2(1278), COL1A1(1277), CTDP1(9150), MBD5(55777), RYR1(6261), MUSK(4593), INS(3630), MED12(9968), EGR2(1959), AHI1(54806), GDAP1(54332), PAK3(5063), PCDH15(65217), SMARCAL1(50485), COQ9(57017), GCK(2645), CLCNKB(1188), PHKA2(5256), PTS(5805), GBA(2629), PNP(4860), CHST3(9469), APTX(54840), TPM3(7170), CABC1(56997)]
MOTTLED OR STIPPLED PIGMENTATION(HP:0007584)	[RECQL4(9401)]
MOTTLED PIGMENTATION(HP:0001070)	[KRT5(3852), LMNA(4000), RECQL4(9401), ZMPSTE24(10269)]
MOVEMENT ABNORMALITIES OF THE TONGUE(HP:0000182)	[FRAS1(80144), ALS2(57679), FREM2(341640)]
MRI IMAGING SHOWS CAVITATION OF THE BASAL GANGLIA(HP:0007246)	[FTL(2512)]
MRI MAY SHOW ATROPHY OF THE CEREBRUM(HP:0006890)	[NAGA(4668)]
MRI SHOWS ATROPHY OF THE SPINAL CORD(HP:0006827)	[CCT5(22948)]
MRI SHOWS DECREASED SIGNAL INTENSITY IN THE PALLIDAL NUCLEI WITH CENTRAL HYPERINTENSITY ('EYE OF THE TIGER' SIGN)(HP:0002454)	[PANK2(80025)]
MRI SHOWS DEFECTS OF THE CORPUS CALLOSUM(HP:0007323)	[SNAP29(9342)]
MRI SHOWS DELAYED MYELINATION(HP:0006974)	[UPB1(51733)]
MRI SHOWS FRONTAL AND TEMPORAL CORTICAL ATROPHY(HP:0007112)	[VCP(7415)]
MRI SHOWS SYMMETRIC LESIONS OF THE BASAL GANGLIA(HP:0007039)	[PDE8B(8622)]
MULTICENTRIC FEMORAL HEAD OSSIFICATION(HP:0008835)	[DYM(54808)]
MULTICENTRIC OSSIFICATION OF PROXIMAL FEMORAL EPIPHYSES(HP:0006450)	[DYM(54808)]
MULTICENTRIC OSSIFICATION OF PROXIMAL HUMERAL EPIPHYSES(HP:0004997)	[DYM(54808)]
MULTICYSTIC KIDNEY(HP:0000003)	[SALL1(6299), OFD1(8481), FAM123B(139285)]
MULTIFACTORIAL(HP:0001426)	[AGTR1(185), PTGIS(5740), PNMT(5409), NLGN4X(57502), PITX1(5307), PAX4(5078)]
MULTIFOCAL CEREBRAL WHITE MATTER ABNORMALITIES(HP:0007052)	[D2HGDH(728294)]
MULTINODULAR GOITER(HP:0005987)	[ALMS1(7840)]
MULTIPLE ADENOMATOUS COLON POLYPS(HP:0005227)	[APC(324)]
MULTIPLE BILATERAL RENAL ANGIOMYOLIPOMA(HP:0006772)	[TSC1(7248), TSC2(7249)]
MULTIPLE CAFE-AU-LAIT SPOTS(HP:0007565)	[NF1(4763)]
MULTIPLE CARPAL OSSIFICATION CENTERS(HP:0006067)	[FLNB(2317)]
MULTIPLE CHROMOSOMAL BREAKS(HP:0002915)	[FANCD2(2177), FANCA(2175), FANCC(2176), FANCE(2178)]
MULTIPLE CUTANEOUS LEIOMYOMAS(HP:0007437)	[FH(2271)]
MULTIPLE DUODENAL POLYPS(HP:0004783)	[APC(324)]
MULTIPLE ENCHONDROMATOSIS(HP:0005701)	[PTH1R(5745)]
MULTIPLE EPIPHYSEAL DYSPLASIA(HP:0002654)	[SLC26A2(1836), PHYH(5264), MATN3(4148), PEX7(5191), COL9A1(1297), EIF2AK3(9451)]
MULTIPLE GASTRIC POLYPS(HP:0004394)	[APC(324), TREX1(11277)]
MULTIPLE IMPACTED TEETH(HP:0001571)	[HOXD13(3239), FLNA(2316)]
MULTIPLE INTESTINAL POLYPS(HP:0200008)	[APC(324)]
MULTIPLE JOINT CONTRACTURES(HP:0002828)	[MED12(9968)]
MULTIPLE LENTIGINES(HP:0001003)	[PTPN11(5781), SOS1(6654)]
MULTIPLE LOCI(HP:0001461)	[DISC2(27184), GDI1(2664)]
MULTIPLE PALMAR CREASES(HP:0006114)	[MAP2K1(5604), MAP2K2(5605), KRAS(3845), BRAF(673)]
MULTIPLE PAPILLARY RENAL CELL CARCINOMAS(HP:0006776)	[PRCC(5546)]
MULTIPLE PLANTAR CREASES(HP:0008113)	[MAP2K1(5604), MAP2K2(5605), KRAS(3845), BRAF(673)]
MULTIPLE PRENATAL FRACTURES(HP:0005855)	[LBR(3930), CRTAP(10491), PPIB(5479), COL1A1(1277), LEPRE1(64175)]
MULTIPLE PTERYGIA(HP:0001040)	[CHRNA1(1134), CHRNG(1146), CHRND(1144)]
MULTIPLE RENAL CYSTS(HP:0005562)	[ABCD3(5825), CCND1(595), PEX2(5828), VHL(7428)]
MULTIPLE RIB FRACTURES(HP:0006640)	[CRTAP(10491)]
MULTIPLE ROWS OF EYELASHES(HP:0008496)	[FOXC2(2303), PUS1(80324)]
MULTIPLE SMALL RENAL CORTICAL CYSTS(HP:0000814)	[ABCD3(5825), PEX2(5828)]
MULTIPLE TUMORS(HP:0003008)	[DIRC2(84925), FLCN(201163), SDHD(6392), SDHC(6391), HNF1A(6927), OGG1(4968), RNF139(11236), VHL(7428), SDHAF2(54949)]
MUSCLE ABNORMALITY RELATED TO MITOCHONDRIAL DYSFUNCTION(HP:0003800)	[TK2(7084), SLC25A4(291), COX6B1(1340), FASTKD2(22868), PUS1(80324), TYMP(1890), ETHE1(23474), POLG(5428), UQCRC1(7384), C10orf2(56652)]
MUSCLE ACTIVITY IS ELECTRICALLY SILENT ON EMG(HP:0003753)	[CAV3(859)]
MUSCLE ATROPHY, DIFFUSE(HP:0008987)	[TK2(7084), TIMM8A(1678)]
MUSCLE ATROPHY, LOWER LIMB, DISTAL(HP:0008949)	[TPM3(7170)]
MUSCLE BIOPSY SHOWS DECREASE OR ABSENCE OF CYTOCHROME C OXIDASE(HP:0009006)	[COX6B1(1340), FASTKD2(22868)]
MUSCLE BIOPSY SHOWS DECREASED ACTIVITY OF CYTOCHROME C OXIDASE(HP:0003688)	[SLC25A4(291), COX6B1(1340), FASTKD2(22868), PUS1(80324), TYMP(1890), ETHE1(23474), POLG(5428), C10orf2(56652)]
MUSCLE BIOPSY SHOWS DECREASED ACTIVITY OF CYTOCHROME C OXIDASE IN MOST CASES(HP:0003734)	[TYMP(1890), POLG(5428), C10orf2(56652)]
MUSCLE BIOPSY SHOWS DECREASED SIZE OF NERVE TERMINALS(HP:0003443)	[COLQ(8292), CHRNA1(1134), CHRNE(1145), CHRND(1144), RAPSN(5913), CHRNB1(1140), MUSK(4593)]
MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES(HP:0003544)	[CRYAB(1410), FKRP(79147), POMGNT1(55624), TRIM32(22954), TTN(7273), DYSF(8291), TCAP(8557), POMT1(10585), LAMA2(3908)]
MUSCLE BIOPSY SHOWS MULTIPLE MITOCHONDRIAL DNA (MTDNA) DELETIONS(HP:0003689)	[SLC25A4(291), TYMP(1890), POLG(5428), C10orf2(56652)]
MUSCLE BIOPSY SHOWS MULTIPLE MITOCHONDRIAL DNA (MTDNA) DELETIONS IN MOST CASES(HP:0003801)	[TYMP(1890), POLG(5428), C10orf2(56652)]
MUSCLE BIOPSY SHOWS MYOFIBRILLAR MYOPATHY(HP:0003715)	[MYOT(9499), FLNC(2318), LDB3(11155)]
MUSCLE BIOPSY SHOWS NECROTIC AND ATROPHIC FIBERS WITH CENTRALIZED NUCLEI(HP:0003726)	[POLG(5428), C10orf2(56652)]
MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES(HP:0003705)	[COL6A1(1291), RYR1(6261), MYH7(4625), COL6A2(1292), COL6A3(1293), TNNT1(7138), NEB(4703)]
MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES WITHOUT DYSTROPHIC OR INFLAMMATORY CHANGES(HP:0003802)	[TNNT1(7138), NEB(4703)]
MUSCLE CRAMPS(HP:0003394)	[PGK1(5230), FKRP(79147), HSPB1(3315), PGAM2(5224), PHKA1(5255), RAPSN(5913), CAV3(859), MUSK(4593), PYGM(5837), SLC16A1(6566), PFKM(5213), SLC12A3(6559), DOK7(285489), SLC12A1(6557), CHRNE(1145), AGRN(375790), KCNJ1(3758), SOD1(6647), ATP2A1(487), LAMP2(3920), AR(367), CHRNB1(1140), CPT2(1376)]
MUSCLE CRAMPS WITH EXERCISE(HP:0003710)	[PGK1(5230), PFKM(5213), PHKA1(5255), PGAM2(5224), CAV3(859), LAMP2(3920), PYGM(5837), SLC16A1(6566)]
MUSCLE FATIGUE(HP:0003750)	[SERPINA6(866), DMGDH(29958), SLC16A1(6566)]
MUSCLE FIBER NECROSIS(HP:0003713)	[COL6A1(1291), COL6A2(1292), COL6A3(1293), SGCG(6445), POLG(5428), C10orf2(56652)]
MUSCLE FIBER SPLITTING(HP:0003555)	[CRYAB(1410), DYSF(8291), FLNC(2318), LDB3(11155)]
MUSCLE FIBRILLATION(HP:0010546)	[SMN1(6606)]
MUSCLE FLACCIDITY(HP:0010547)	[CACNA1S(779)]
MUSCLE HYPERIRRITABILITY(HP:0003559)	[CAV3(859)]
MUSCLE HYPERTROPHY(HP:0003712)	[PEX19(5824), HSPG2(3339), FKRP(79147), ARSB(411), ATRX(546), EHMT1(79813), LMNA(4000), PEX5(5830), ZEB2(9839), GATA1(2623), NSD1(64324), ANCR(282), INPP5E(56623), MECP2(4204), CDKN1C(1028), H19(283120), DCR(1637), MYF6(4618), IDS(3423), KCNQ1OT1(10984), HRAS(3265), CDKL5(6792), HEXB(3074), FUCA1(2517), UBE3A(7337), DNM2(1785), CLCN1(1180), GNPTAB(79158), PEX26(55670), DNMT3B(1789), GPC3(2719), AGA(175), PEX10(5192), PEX14(5195), PEX13(5194), CAV3(859), TSHB(7252), PEX1(5189), SLC5A5(6528), PEX3(8504), ROR2(4920), GAA(2548), MAN2B1(4125), PAX8(7849)]
MUSCLE HYPERTROPHY OF THE LOWER EXTREMITIES(HP:0008968)	[FKRP(79147), CLCN1(1180)]
MUSCLE HYPOPLASIA(HP:0009004)	[GLE1(2733), ALX3(257)]
MUSCLE MOUNDING(HP:0003719)	[CAV3(859)]
MUSCLE PAIN AND CRAMPS FOLLOWING EXERCISE(HP:0008983)	[PYGM(5837)]
MUSCLE STIFFNESS(HP:0003552)	[MYOT(9499), SCN9A(6335), PHKA1(5255), TNFRSF1A(7132), ACADVL(37), CAV3(859), COL9A3(1299), MGP(4256), CPT2(1376), CLCN1(1180), SLC16A1(6566)]
MUSCLE STIFFNESS OR ACHING(HP:0009014)	[MYOT(9499)]
MUSCLE WEAKNESS(HP:0001324)	[SH3TC2(79628), FBN1(2200), FKRP(79147), CHAT(1103), SACS(26278), GAN(8139), DCTN1(1639), TGFB1(7040), SLC22A5(6584), ABCA1(19), COQ2(27235), MATR3(9782), TK2(7084), CHRNA1(1134), COLQ(8292), SBF2(81846), ACADS(35), ACADL(33), LYST(1130), HSPB1(3315), KIF5A(3798), ACADVL(37), DYSF(8291), GJB1(2705), FKTN(2218), C20orf7(79133), MPZ(4359), SLC12A3(6559), CHRNE(1145), SLC12A1(6557), CHRND(1144), ACTA1(58), PUS1(80324), CHRNB1(1140), ATP7A(538), KCNJ11(3767), SNRPN(6638), RAPSN(5913), NDRG1(10397), BCS1L(617), POLG(5428), FGF23(8074), MED25(81857), AAAS(8086), HSPB8(26353), CYP27B1(1594), KCNJ2(3759), KCNJ1(3758), ACY1(95), SOD1(6647), OAT(4942), SMN1(6606), ABHD5(51099), CNBP(7555), TNFRSF11B(4982), TNNT1(7138), NDUFA11(126328), NDUFAF4(29078), PABPN1(8106), TRPV4(59341), DOK7(285489), FASTKD2(22868), PMP22(5376), SDHAF1(644096), SMPD1(6609), PRNP(5621), PLA2G6(8398), ATL1(51062), DMPK(1760), TRIM32(22954), PRPS1(5631), SGCB(6443), SGCA(6442), SGCG(6445), KIAA0196(9897), GARS(2617), MTM1(4534), MTHFR(4524), HMBS(3145), ALS2(57679), FAM126A(84668), DNM2(1785), TCIRG1(10312), TCN2(6948), SPG11(80208), MTMR2(8898), FGD4(121512), ETFDH(2110), VMA21(203547), ETFB(2109), PRX(57716), ETFA(2108), C20orf54(113278), AGL(178), DMD(1756), ZFYVE26(23503), ACAD9(28976), CYP7B1(9420), MUSK(4593), EYA1(2138), INS(3630), RMRP(6023), GDAP1(54332), ALAD(210), CLCN7(1186), COQ9(57017), GCK(2645), MFN2(9927), CLCF1(23529), CLCNKB(1188), SOST(50964), WISP3(8838), DES(1674), GBE1(2632), APTX(54840), CABC1(56997), VCP(7415), BIN1(274), SCN4A(6329), MYOT(9499), CPOX(1371), SALL4(57167), SETX(23064), GJC2(57165), VDR(7421), MYF6(4618), SLC7A7(9056), MYH7(4625), RAB7A(7879), GNE(10020), TYMP(1890), AMPD1(270), ATXN1(6310), UQCRB(7381), NIPA1(123606), YARS(8565), SLC25A20(788), SEPN1(57190), KIF1B(23095), ABCC8(6833), C10orf2(56652), PFKM(5213), SLC25A4(291), LITAF(9516), SIL1(64374), SLC12A6(9990), NAGA(4668), TCAP(8557), CACNA1S(779), LMNA(4000), COL9A3(1299), SDHA(6389), TSFM(10102), CYP2R1(120227), PSAP(5660), PDSS2(57107), COL6A1(1291), SPG20(23111), NDN(4692), NDUFA1(4694), COL6A2(1292), COL6A3(1293), PDSS1(23590), HCRT(3060), NEB(4703), BSCL2(26580), ANKH(56172), POMGNT1(55624), COX6B1(1340), CAV3(859), NDUFS1(4719), NDUFV1(4723), NDUFS2(4720), HADHB(3032), NDUFS6(4726), IGHMBP2(3508), NDUFS4(4724), GAA(2548), AGRN(375790), AR(367), HADHA(3030), CHD7(55636), LDB3(11155), ARSA(410), LARGE(9215), NEFL(4747), SPG7(6687), FLNC(2318), PLP1(5354), NDUFAF2(91942), SPAST(6683), SOX10(6663), TTN(7273), NF1(4763), UQCRQ(27089), PMM2(5373), ENO3(2027), NEU1(4758), POMT1(10585), ANO5(203859), LPIN1(23175), PLEKHG5(57449), GPI(2821), NDUFAF3(25915), EMD(2010), D2HGDH(728294), LAMA2(3908), LAMP2(3920), TNFSF11(8600), HSPG2(3339), RYR1(6261), HSPD1(3329), CRYAB(1410), EGR2(1959), GSN(2934), PHKA1(5255), SEMA3E(9723), SLC34A3(142680), TPM3(7170), SPTLC1(10558)]
MUSCLE WEAKNESS AND ATROPHY(HP:0009012)	[SOD1(6647)]
MUSCLE WEAKNESS, DIFFUSE(HP:0003686)	[RYR1(6261), SEPN1(57190)]
MUSCLE WEAKNESS, DISTAL (LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS), DUE TO MOTOR NEURONOPATHY(HP:0002598)	[HSPB1(3315), HSPB8(26353)]
MUSCLE WEAKNESS, DISTAL, PROGRESSIVE(HP:0009063)	[MYOT(9499), LDB3(11155)]
MUSCLE WEAKNESS, LOWER LIMB, DISTAL(HP:0009053)	[HSPB1(3315), HSPB8(26353), TPM3(7170)]
MUSCLE WEAKNESS, PREDOMINANTLY PROXIMAL(HP:0009075)	[BIN1(274), LARGE(9215)]
MUSCLE WEAKNESS, PROGRESSIVE(HP:0003323)	[PDSS2(57107), COQ9(57017), COQ2(27235), SIL1(64374), PUS1(80324), PDSS1(23590), TNNT1(7138), APTX(54840), POLG(5428), C10orf2(56652), LDB3(11155), CABC1(56997)]
MUSCLE WEAKNESS, PROGRESSIVE, PROXIMAL(HP:0009073)	[LDB3(11155)]
MUSCLE WEAKNESS, SEVERE(HP:0008979)	[COL6A1(1291), COL6A2(1292), COL6A3(1293), LAMA2(3908)]
MUSCULAR DYSTROPHY(HP:0003560)	[FKRP(79147), MYOT(9499), RYR1(6261), SEPN1(57190), POMGNT1(55624), LMNA(4000), LARGE(9215), TRIM32(22954), DYSF(8291), CAV3(859), SGCB(6443), SGCA(6442), LAMA2(3908), FKTN(2218), CRYAB(1410), TTN(7273), TCAP(8557), DMD(1756), ANO5(203859), POMT1(10585), PLEC(5339), POMT2(29954)]
MUSCULAR DYSTROPHY, CONGENITAL(HP:0003793)	[FKRP(79147), POMGNT1(55624), LARGE(9215), LAMA2(3908)]
MUSCULAR HYPOTONIA(HP:0001252)	[TH(7054), FBN1(2200), RET(5979), FKRP(79147), SUCLG1(8802), FBP1(2203), DCX(1641), ATRX(546), MMAA(166785), MMADHC(27249), DDC(1644), MCCC2(64087), HSD17B4(3295), DPM1(8813), MCCC1(56922), SLC16A2(6567), GLI3(2737), DCR(1637), SLC35C1(55343), SLC22A5(6584), ABAT(18), GLDC(2731), NPHP1(4867), NPC1(4864), DOLK(22845), UBR1(197131), GNPTAB(79158), ACADM(34), TK2(7084), CHRNA1(1134), COLQ(8292), ACADS(35), ACADL(33), GPC3(2719), NKX2-1(7080), ACADSB(36), ACADVL(37), MRPS22(56945), SLC6A8(6535), DDR2(4921), ACOX1(51), FKTN(2218), MPZ(4359), C20orf7(79133), DBT(1629), MPV17(4358), ACP2(53), CHRNE(1145), CHRND(1144), ACTA1(58), CHRNB1(1140), NDUFS7(374291), KCNJ11(3767), FH(2271), ZEB2(9839), RAPSN(5913), FGFR3(2261), OCRL(4952), BCS1L(617), POLG(5428), KCNC3(3748), CYP27B1(1594), ACY1(95), C8orf38(137682), HPRT1(3251), OPHN1(4983), NDUFA11(126328), NDUFAF4(29078), WNK1(65125), BCKDHA(593), GM2A(2760), BCKDHB(594), FAM123B(139285), FASTKD2(22868), OGDH(4967), PMP22(5376), SMS(6611), SDHAF1(644096), MLYCD(23417), SMPD1(6609), BTD(686), PLA2G6(8398), SLC25A22(79751), DMPK(1760), GATA1(2623), PRPS1(5631), ERCC6(2074), STRA6(64220), PRODH(5625), BRAF(673), B4GALT7(11285), MTM1(4534), MAP2K1(5604), MAP2K2(5605), BUB1B(701), TMEM67(91147), FAM126A(84668), TREX1(11277), GAMT(2593), HLCS(3141), GALC(2581), BMP4(652), GALE(2582), AGA(175), DLAT(1737), DLD(1738), ETFDH(2110), ETFB(2109), PRX(57716), ETFA(2108), GNPAT(8443), COL1A2(1278), PDHX(8050), MRPS16(51021), COL1A1(1277), ETHE1(23474), DMD(1756), RAB3GAP1(22930), POMT2(29954), WHCR(7467), EHMT1(79813), WHSC1(7468), B4GALT1(2683), ST3GAL5(8869), MVK(4598), CEP290(80184), MUSK(4593), MUT(4594), INS(3630), EIF2B2(8892), MED12(9968), EIF2B5(8893), PPT1(5538), DGUOK(1716), TRIM37(4591), DHCR7(1717), EIF2B4(8890), AHI1(54806), EIF2B3(8891), HEXA(3073), GCH1(2643), ALG1(56052), GCK(2645), VLDLR(7436), DECR1(1666), CLCNKB(1188), GCSH(2653), PCCB(5096), ATP6V0A2(23545), MTRR(4552), ALPL(249), GBE1(2632), VRK1(7443), PC(5091), GCDH(2639), PCCA(5095), AMT(275), BIN1(274), CPT1A(1374), NSD1(64324), ANCR(282), GJC2(57165), VDR(7421), EDNRB(1910), IKBKAP(8518), SLC7A7(9056), CDKL5(6792), COX15(1355), AMPD1(270), ATXN1(6310), ATXN2(6311), SC5DL(6309), CANT1(124583), UQCRB(7381), MYO5A(4644), SEPN1(57190), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), LRP5(4041), PTEN(5728), UPB1(51733), MCOLN1(57192), SURF1(6834), ABCC8(6833), C10orf2(56652), SCO2(9997), SLC17A5(26503), CREBBP(1387), SIL1(64374), ALDH5A1(7915), SLC12A6(9990), NAGA(4668), SUOX(6821), CPT2(1376), MAN2B1(4125), MANBA(4126), TOR1A(1861), PDHA1(5160), ALG6(29929), INPP5E(56623), SDHA(6389), MECP2(4204), TSFM(10102), PDP1(54704), CYP2R1(120227), PRPS2(5634), COL5A2(1290), PSAP(5660), COL6A1(1291), COL5A1(1289), PHF6(84295), BSND(7809), NDUFA1(4694), COL6A2(1292), COL6A3(1293), NDUFA2(4695), COL2A1(1280), FUCA1(2517), UBE3A(7337), PEX26(55670), NEB(4703), POMGNT1(55624), VPS13B(157680), UBA1(7317), COX6B1(1340), ATCAY(85300), PEX3(8504), NDUFS1(4719), LIFR(3977), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), HADHB(3032), HADH(3033), OFD1(8481), NDUFS6(4726), NDUFS4(4724), MOGS(7841), GAA(2548), DPAGT1(1798), NDUFS8(4728), CASR(846), HADHA(3030), HSD17B10(3028), PAX8(7849), PEX19(5824), ARSA(410), ABCD3(5825), PLOD1(5351), EP300(2033), PEX2(5828), LARGE(9215), PEX5(5830), RPS6KA3(6197), PLP1(5354), NDUFAF2(91942), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), UQCRQ(27089), AASS(10157), PMM2(5373), NEU1(4758), POMT1(10585), ASPA(443), LAMB2(3913), LRPPRC(10128), NDUFAF3(25915), QDPR(5860), TSHB(7252), D2HGDH(728294), LAMA2(3908), PNPO(55163), ARX(170302), MGAT2(4247), SPR(6697), TRPS1(7227), RYR1(6261), CD96(10225), ATIC(471), HSPD1(3329), LMBRD1(55788), MPI(4351), EGR2(1959), EIF2B1(1967), ALG3(10195), MMAB(326625), ALDH7A1(501), PHKB(5257), KRAS(3845), PTS(5805), EFNB1(1947), MMACHC(25974), PNP(4860), SLC34A3(142680), ATP2A1(487)]
MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936)	[TH(7054), KCNJ11(3767), GCH1(2643), ALG3(10195), DCX(1641), GCK(2645), DDC(1644), ALG6(29929), GJC2(57165), MECP2(4204), ABCC8(6833), PNPO(55163), INS(3630), PCCB(5096), ARX(170302), TREX1(11277), FAM126A(84668), SPR(6697), HSD17B10(3028), PCCA(5095)]
MUTISM(HP:0002300)	[ATP1A3(478), CHMP2B(25978), SLC9A6(10479), GRN(2896), TBP(6908), MAPT(4137)]
MYALGIA(HP:0003326)	[CNBP(7555), FKRP(79147), RYR1(6261), LMNA(4000), TRIM32(22954), PHKA1(5255), ACADVL(37), PGAM2(5224), NLRP3(114548), CAV3(859), PYGM(5837), PDGFRA(5156), HADHB(3032), TNFRSF1A(7132), KCNQ2(3785), ENO3(2027), ATP2A1(487), CPT2(1376), ANO5(203859), HADHA(3030), LPIN1(23175)]
MYELIN OUTFOLDINGS(HP:0004336)	[MPZ(4359), NEFL(4747), PMP22(5376)]
MYELIN OUTFOLDINGS MAY OCCUR IN A SUBSET OF PATIENTS(HP:0003433)	[MPZ(4359), PMP22(5376)]
MYELODYSPLASIA(HP:0002863)	[TINF2(26277), TERC(7012), TERT(7015), SBDS(51119), DKC1(1736), RUNX1(861)]
MYELOID CELL LEUKEMIA 1(HP:0005519)	[MCL1(4170)]
MYELOID/LYMPHOID LEUKEMIA(HP:0005531)	[MLL(4297)]
MYELOPATHY(HP:0002196)	[EXT2(2132), ARSB(411), ENPP1(5167), EXT1(2131), GALNS(2588), COL2A1(1280), GNPTAB(79158), GLB1(2720)]
MYELOPROLIFERATIVE DISORDER(HP:0005547)	[JAK2(3717), MPL(4352), THPO(7066), PDGFRB(5159)]
MYOCARDIAL FIBROSIS(HP:0001685)	[FKTN(2218), TRIM37(4591), LAMP2(3920)]
MYOCARDIAL INFARCTION(HP:0001658)	[GLA(2717), LPL(4023), ENPP1(5167), LMNA(4000), CYP27A1(1593), MYH9(4627), CBS(875)]
MYOCARDIAL NECROSIS(HP:0001700)	[SBDS(51119), LAMP2(3920)]
MYOCLONIC EPILEPSY, PROGRESSIVE(HP:0006869)	[EPM2A(7957), NHLRC1(378884)]
MYOCLONIC SEIZURES(HP:0002123)	[SLC25A15(10166), SLC25A22(79751), GABRG2(2566), MFSD8(256471), GBA(2629), SCN1A(6323), ALDH5A1(7915), ALDH7A1(501), EPM2A(7957), KCTD7(154881), NHLRC1(378884), GLB1(2720)]
MYOCLONIC SEIZURES, INTRACTABLE(HP:0007202)	[SLC25A22(79751)]
MYOCLONIC SPASMS(HP:0003739)	[GPHN(10243), MOCS2(4338), MOCS1(4337)]
MYOCLONUS(HP:0001336)	[AMT(275), PRNP(5621), FKRP(79147), TAF1(6872), DDC(1644), GLRB(2743), SDHA(6389), MECP2(4204), GLRA1(2741), POLG(5428), NHLRC1(378884), PSAP(5660), GPHN(10243), PPT1(5538), PSEN1(5663), GLDC(2731), SLC2A1(6513), NME1(4830), TREM2(54209), CLN8(2055), EPM2A(7957), NEU1(4758), ATXN2(6311), ATN1(1822), CHMP2B(25978), POMGNT1(55624), SGCE(8910), QDPR(5860), TBP(6908), DRD2(1813), TSEN54(283989), GCSH(2653), C10orf2(56652), PNPO(55163), CLN5(1203), TPP1(1200), CLN3(1201), GBA(2629), TYROBP(7305), SLC6A5(9152), NAGA(4668), SDHAF1(644096), DYT3(1863)]
MYOGLOBINURIA(HP:0002913)	[PGK1(5230), COQ9(57017), ACADVL(37), PGAM2(5224), PHKA1(5255), PYGM(5837), PDSS2(57107), PFKM(5213), HADHB(3032), HADH(3033), COQ2(27235), PDSS1(23590), APTX(54840), HADHA(3030), ISCU(23479), LPIN1(23175), CABC1(56997)]
MYOGLOBINURIA, EPISODIC(HP:0008313)	[PDSS2(57107), COQ9(57017), COQ2(27235), PDSS1(23590), APTX(54840), CABC1(56997)]
MYOGLOBINURIA, EXERCISE-INDUCED(HP:0008305)	[PHKA1(5255), ACADVL(37)]
MYOKYMIA(HP:0002411)	[KCNQ2(3785), PNKD(25953), KCNA1(3736)]
MYOPATHIC CHANGES ON MUSCLE BIOPSY(HP:0003569)	[SIL1(64374)]
MYOPATHIC FACIES(HP:0002058)	[NEB(4703)]
MYOPATHY(HP:0003198)	[VCP(7415), BIN1(274), FKRP(79147), PGK1(5230), RET(5979), MYOT(9499), LARGE(9215), TRIM32(22954), PGAM2(5224), SGCA(6442), FLNC(2318), CTNS(1497), MYF6(4618), SLC22A5(6584), MYH7(4625), TTN(7273), GCLC(2729), GNE(10020), MATR3(9782), DNM2(1785), ANO5(203859), TK2(7084), COLQ(8292), ACADS(35), SEPN1(57190), XDH(7498), DYSF(8291), EMD(2010), GK(2710), VMA21(203547), C10orf2(56652), SLC25A4(291), SIL1(64374), AGL(178), LAMP2(3920), CACNA1S(779), ISCU(23479), RYR1(6261), LMNA(4000), B4GALT1(2683), POLG(5428), CRYAB(1410), COL6A1(1291), COL6A2(1292), COL6A3(1293), NEB(4703), ABHD5(51099), POMGNT1(55624), TNNT1(7138), TAZ(6901), DES(1674), HADHB(3032), TPI1(7167), ALPL(249), TPM3(7170), HADHA(3030), LDB3(11155)]
MYOPIA(HP:0000545)	[ERBB3(2065), FBN1(2200), PLOD1(5351), FBN2(2201), FKRP(79147), CLDN19(149461), RPGR(6103), BBS5(129880), TRIM32(22954), ARL6(84100), BRAF(673), MAP2K1(5604), MAP2K2(5605), ADAMTS10(81794), BBS9(27241), OPTN(10133), LRP2(4036), MYOC(4653), B3GALTL(145173), PTEN(5728), BFSP2(8419), MKS1(54903), GJA8(2703), RECQL4(9401), ZNF469(84627), COL1A1(1277), JAG1(182), CACNA1F(778), ADAMTS2(9509), HSPG2(3339), MKKS(8195), SNRPN(6638), GRM6(2916), CNGB3(54714), NYX(60506), CEP290(80184), BBS12(166379), COL11A1(1301), COL18A1(80781), COL5A2(1290), PTPN11(5781), COL5A1(1289), NDN(4692), TEAD1(7003), COL2A1(1280), CBS(875), OAT(4942), TTC8(123016), SMARCAL1(50485), POMGNT1(55624), VPS13B(157680), CYP1B1(1545), ABCC6(368), BBS1(582), BBS2(583), BBS4(585), KRAS(3845), TIMM8A(1678), NIPBL(25836), TFAP2A(7020), BBS10(79738), TYR(7299), KDM5C(8242), BBS7(55212), CLDN16(10686)]
MYOPIA, CONGENITAL(HP:0008012)	[FKRP(79147), POMGNT1(55624)]
MYOTONIA(HP:0002486)	[HSPG2(3339), CNBP(7555), SCN4A(6329), CACNA1A(773), DMPK(1760), CLCN1(1180)]
MYOTONIA (USUALLY OCCURS DURING RAPID VOLUNTARY MUSCLE MOVEMENTS AFTER A PERIOD OF REST)(HP:0003792)	[CLCN1(1180)]
MYOTONIA IMPROVES WITH CONTINUED ACTIVITY ('WARM-UP PHENOMENON')(HP:0003740)	[CLCN1(1180)]
MYOTONIA IS MOST PRONOUNCED IN THE EXTREMITIES(HP:0003632)	[CLCN1(1180)]
MYXOID SUBCUTANEOUS TUMORS(HP:0006769)	[PRKAR1A(5573)]
NAIL BED TELANGIECTASES(HP:0001232)	[ENG(2022), ACVRL1(94)]
NAIL DYSPLASIA(HP:0002164)	[GJB6(10804), INSR(3643), TINF2(26277), COL17A1(1308), EVC2(132884), NHP2(55651), KRT17(3872), DPM1(8813), EDARADD(128178), FLNA(2316), GLI3(2737), IKBKG(8517), ITGB4(3691), COL7A1(1294), DSP(1832), RAB7A(7879), EDAR(10913), EVC(2121), KRT85(3891), NOP10(55505), LAMB3(3914), KRT6B(3854), KRT5(3852), ALG3(10195), LAMC2(3918), TERC(7012), NTRK1(4914), TERT(7015), SOST(50964), TP63(8626), DKC1(1736), PORCN(64840), GJB2(2706), LAMA3(3909), KRT14(3861), WNT10A(80326), POMP(51371), PVRL1(5818), PLEC(5339), ITGA6(3655)]
NAIL DYSTROPHY WITH OVERCURVATURE(HP:0008413)	[POMP(51371)]
NAIL DYSTROPHY, VARIABLE(HP:0008404)	[GJB2(2706)]
NAIL HYPOPLASIA(HP:0001792)	[NOP10(55505), LBR(3930), GJB6(10804), OFD1(8481), GPC3(2719), FGFR1(2260), NHP2(55651), WNT10A(80326), CPT2(1376), EVC(2121), TFAP2A(7020)]
NAIL PITTING(HP:0001803)	[IKBKG(8517), TINF2(26277), TERC(7012), TERT(7015), TP63(8626), MSX1(4487)]
NAIL RIDGING(HP:0001807)	[FERMT1(55612), IKBKG(8517), TINF2(26277), ATP2A2(488), TERC(7012), TERT(7015), DKC1(1736), WNT10A(80326), CTSK(1513), MSX1(4487), EFNB1(1947), LMX1B(4010)]
NARES, ANTEVERTED(HP:0000463)	[PEX19(5824), MYCN(4613), KCNJ11(3767), FH(2271), CD96(10225), ATRX(546), EHMT1(79813), PEX5(5830), FGFR1(2260), ATIC(471), INPP5E(56623), COL11A2(1302), COL11A1(1301), GLI3(2737), INS(3630), MID1(4281), BUB1B(701), DHCR7(1717), HRAS(3265), AHI1(54806), CRLF1(9244), FGD1(2245), COL2A1(1280), GNPTAB(79158), PEX26(55670), SC5DL(6309), ADAMTSL2(9719), GCK(2645), AGA(175), LRPPRC(10128), TRIP11(9321), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), ROR2(4920), NIPBL(25836), ABCC8(6833), OFD1(8481), GJA1(2697), GBA(2629), SLC17A5(26503), GNPAT(8443), AGL(178)]
NARROW CERVICAL SPINAL CANAL(HP:0008445)	[PHF6(84295)]
NARROW CHEST(HP:0000774)	[UPF3B(65109), DYNC2H1(79659), CRTAP(10491), FGFR1(2260), EVC2(132884), FGFR3(2261), FGFR2(2263), B4GALT7(11285), FLNA(2316), RUNX2(860), SLC26A2(1836), LBR(3930), SLC9A6(10479), SBDS(51119), SLC35D1(23169), IHH(3549), CASR(846), EVC(2121), ATP7A(538)]
NARROW FACE(HP:0000275)	[FBN1(2200), MED12(9968), NHS(4810), SLC9A6(10479), NOG(9241), BCOR(54880), BLM(641), PQBP1(10084), MTM1(4534), EYA1(2138)]
NARROW FOREHEAD(HP:0000341)	[SLC12A6(9990), GNPTAB(79158), GJB2(2706)]
NARROW GREATER SACROSCIATIC NOTCHES(HP:0003375)	[GUSB(2990), DYM(54808), COL2A1(1280)]
NARROW HAND(HP:0004283)	[SNRPN(6638), VPS13B(157680), NDN(4692), SMS(6611)]
NARROW ILIAC WINGS(HP:0002868)	[MATN3(4148), RPS6KA3(6197), SEC23A(10484), EIF2AK3(9451)]
NARROW INTERVERTEBRAL SPACES(HP:0002945)	[CHST3(9469)]
NARROW MAXILLA(HP:0002010)	[COL5A2(1290), COL5A1(1289), COL1A1(1277)]
NARROW NASAL BRIDGE(HP:0000446)	[MED12(9968), MMP2(4313), GJA1(2697), PORCN(64840)]
NARROW NOSE(HP:0000460)	[TP63(8626), EYA1(2138)]
NARROW PALATE(HP:0000189)	[MYCN(4613), FBN1(2200), RET(5979), FBN2(2201), TBX4(9496), ATRX(546), BBS5(129880), ATR(545), CCBE1(147372), MYH3(4621), NSD1(64324), HSD17B4(3295), GLI3(2737), HRAS(3265), CRLF1(9244), ADAMTS10(81794), GNE(10020), BBS9(27241), SC5DL(6309), CHRNA1(1134), SEPN1(57190), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PTEN(5728), DDR2(4921), GJA1(2697), CHRNG(1146), CHRNE(1145), SLC17A5(26503), CHRND(1144), CREBBP(1387), ACTA1(58), PUS1(80324), SLC12A6(9990), CHRNB1(1140), RAB23(51715), CPT2(1376), DBH(1621), ATP7A(538), MKKS(8195), FH(2271), UPF3B(65109), LMNA(4000), RAPSN(5913), FGFR1(2260), FGFR3(2261), FGFR2(2263), MECP2(4204), BBS12(166379), COL6A1(1291), COL6A2(1292), IGBP1(3476), COL6A3(1293), KCNJ2(3759), CBS(875), PQBP1(10084), TTC8(123016), PEX26(55670), NEB(4703), ABCC6(368), BBS1(582), KAL1(3730), BBS2(583), TNNI2(7136), TBX1(6899), BBS4(585), PEX3(8504), TNNT3(7140), NIPBL(25836), RUNX2(860), BBS10(79738), OFD1(8481), BBS7(55212), DOK7(285489), MOGS(7841), PEX19(5824), EP300(2033), TWIST1(7291), TRIM32(22954), PEX5(5830), RPS6KA3(6197), ARL6(84100), BRAF(673), MTM1(4534), MAP2K1(5604), MAP2K2(5605), MID1(4281), BMP4(652), FOXL2(668), MKS1(54903), GNPAT(8443), RECQL4(9401), CTSK(1513), TRPS1(7227), RYR1(6261), CD96(10225), INSR(3643), CEP290(80184), MUSK(4593), LMBRD1(55788), EYA1(2138), MED12(9968), PTPN11(5781), DGCR(1714), ALG3(10195), STAT3(6774), CLCF1(23529), KRAS(3845), EIF2AK3(9451), SHOX(6473), TPM2(7169)]
NARROW PELVIS(HP:0003275)	[FGFR1(2260), FGFR2(2263)]
NARROW SACROILIAC NOTCH(HP:0008803)	[GPC3(2719), SBDS(51119)]
NARROW SACROILIAC NOTCHES IN INFANCY(HP:0008815)	[GPC3(2719)]
NARROW THORACOLUMBAR INTERPEDICULATE DISTANCE(HP:0008484)	[NPR2(4882)]
NARROW VERTEBRAL INTERPEDICULAR DISTANCE(HP:0008450)	[RMRP(6023), NPR2(4882), GNPTAB(79158)]
NARROW, HIGH-ARCHED PALATE(HP:0009080)	[ACTA1(58), RUNX2(860)]
NARROWNESS OF INTERPEDICULATE DISTANCES IN LOWER THORACIC REGIONS(HP:0008470)	[GNPTAB(79158)]
NASAL BONE HYPOPLASIA(HP:0004646)	[USH1G(124590)]
NASAL HYPOPLASIA(HP:0003196)	[KCNJ11(3767), AVP(551), PLA2G6(8398), CD96(10225), NPR2(4882), ARSE(415), TWIST1(7291), GGCX(2677), MYH3(4621), FGFR1(2260), FGFR2(2263), PAX3(5077), COL11A1(1301), FLNA(2316), GLI3(2737), FLNB(2317), INS(3630), EDA(1896), USH1G(124590), FAM20C(56975), GPC6(10082), FGD1(2245), FREM2(341640), DNMT3B(1789), SC5DL(6309), ADAMTSL2(9719), FRAS1(80144), GPC3(2719), GCK(2645), TRIP11(9321), LRP2(4036), DDR2(4921), ABCC8(6833), LIFR(3977), OFD1(8481), GJA1(2697), GBA(2629), RECQL4(9401), SLC12A6(9990)]
NASAL MUCOSA TELANGIECTASES(HP:0000434)	[ENG(2022), ACVRL1(94)]
NASAL OBSTRUCTION LEADING TO MOUTH BREATHING(HP:0001742)	[ANKH(56172)]
NASAL POLYPS(HP:0000462)	[TAP1(6890), TAP2(6891), TAPBP(6892), DNAI1(27019), STK11(6794), TBX21(30009)]
NASAL SPEECH(HP:0001611)	[SNRPN(6638), SEPN1(57190), UPF3B(65109), TBX1(6899), MYH3(4621), MGP(4256), TFAP2A(7020), LIFR(3977), MED12(9968), DGCR(1714), NDN(4692), CRLF1(9244), SMS(6611)]
NASAL, DYSARTHIC SPEECH(HP:0008376)	[MYOT(9499)]
NASAL, HIGH-PITCHED VOICE(HP:0009146)	[SEPN1(57190)]
NASOLACRIMAL DUCT OBSTRUCTION(HP:0000579)	[NOP10(55505), TCOF1(6949), EP300(2033), FGF10(2255), CREBBP(1387), TP63(8626), FGFR3(2261), NHP2(55651), TFAP2A(7020)]
NASOLACRIMAL DUCT STENOSIS(HP:0007678)	[TCOF1(6949)]
NAUSEA(HP:0002018)	[GLA(2717), SLC7A7(9056), LPL(4023), FSHR(2492), HMBS(3145), EDNRA(1909), ETFDH(2110), ETFB(2109), ETFA(2108)]
NAUSEA AND VOMITING(HP:0002017)	[SLC25A15(10166), BTD(686), RET(5979), CPS1(1373), ATRX(546), MMAA(166785), OXCT1(5019), CPOX(1371), PPOX(5498), NAGS(162417), PHOX2B(8929), EDNRA(1909), AVPR2(554), NDUFAF2(91942), BRAF(673), OTC(5009), MCCC1(56922), MAP2K1(5604), MAP2K2(5605), SLC22A5(6584), SLC7A7(9056), HMBS(3145), GALT(2592), HLCS(3141), TYMP(1890), PMM2(5373), GALC(2581), ACADM(34), GLA(2717), TCN2(6948), GALE(2582), ACADL(33), NDUFAF3(25915), ACAT1(38), ASS1(445), ACADVL(37), NEUROG3(50674), D2HGDH(728294), GK(2710), ASL(435), DLD(1738), ETFDH(2110), SLC6A8(6535), ETFB(2109), ETFA(2108), C10orf2(56652), DBT(1629), C20orf7(79133), FSHR(2492), MPV17(4358), SLC12A1(6557), ACP2(53), CPT2(1376), TREH(11181), ZEB2(9839), ST3GAL5(8869), MVK(4598), POLG(5428), MPI(4351), DGUOK(1716), LPL(4023), DHCR7(1717), L1CAM(3897), NDUFA1(4694), KCNJ1(3758), ALAD(210), CYP11B2(1585), GDNF(2668), HPRT1(3251), MMAB(326625), ALG3(10195), ALDOB(229), ARG1(383), NDUFA11(126328), KRAS(3845), NDUFAF4(29078), NDUFS1(4719), SERPING1(710), PCCB(5096), BCKDHA(593), NDUFV1(4723), LIPA(3988), NDUFS2(4720), AQP2(359), BCKDHB(594), NDUFS6(4726), IVD(3712), NDUFS4(4724), ALPL(249), SCNN1G(6340), MLYCD(23417), SCNN1A(6337), SMPD1(6609), SCNN1B(6338), PCCA(5095)]
NEARLY COMPLETE ABSENCE OF METABOLICALLY ACTIVE ADIPOSE TISSUE (SUBCUTANEOUS, INTRAABDOMINAL, INTRATHORACIC)(HP:0003809)	[BSCL2(26580), AGPAT2(10555)]
NECK FLEXOR WEAKNESS(HP:0003722)	[CNBP(7555), TRIM32(22954), NEB(4703)]
NECK MUSCLE WEAKNESS(HP:0000467)	[CNBP(7555), CRYAB(1410), TRIM32(22954), TPM3(7170), PABPN1(8106), MTM1(4534), NEB(4703), DES(1674)]
NECK PTERYGIA(HP:0009759)	[CHRNG(1146)]
NECROTIZING GLOMERULONEPHRITIS(HP:0008653)	[PRTN3(5657)]
NEGATIVE NITROBLUE TETRAZOLIUM (NBT) REDUCTION TEST(HP:0003203)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
NEMALINE BODIES(HP:0003798)	[TNNT1(7138), NEB(4703)]
NEOCORTICAL DYSPLASIA(HP:0007139)	[HSD17B4(3295)]
NEONATAL ALLOIMMUNE THROMBOCYTOPENIA(HP:0004809)	[ITGA2(3673), ITGB3(3690)]
NEONATAL BLEEDING TENDENCY(HP:0004830)	[GGCX(2677)]
NEONATAL BREATHING DYSREGULATION(HP:0002790)	[TMEM216(51259), AHI1(54806), INPP5E(56623), CEP290(80184)]
NEONATAL CYSTIC LESIONS OF THE PINNAE(HP:0008557)	[SLC26A2(1836)]
NEONATAL DEATH(HP:0003811)	[HSPG2(3339), PKHD1(5314), FGFR3(2261), ETFDH(2110), ETFB(2109), FLNB(2317), ETFA(2108), GLI3(2737), LBR(3930), GLE1(2733), DSP(1832), FAM20C(56975), NSDHL(50814), SLC35D1(23169)]
NEONATAL DEATH FREQUENT(HP:0003820)	[ETFDH(2110), ETFB(2109), ETFA(2108)]
NEONATAL HEMOLYTIC ANEMIA(HP:0004811)	[CPOX(1371)]
NEONATAL HYPERBILIRUBINEMIA(HP:0003265)	[GPX1(2876)]
NEONATAL HYPOGLYCEMIA(HP:0001998)	[KCNQ1OT1(10984), HADHB(3032), NSD1(64324), GYS2(2998), CDKN1C(1028), H19(283120), PRKAG2(51422), PROP1(5626)]
NEONATAL HYPOPARATHYROIDISM(HP:0008199)	[TBCE(6905)]
NEONATAL HYPOTONIA(HP:0001319)	[BIN1(274), FKRP(79147), SLC25A22(79751), RYR1(6261), RAPSN(5913), NSD1(64324), SDHA(6389), OCRL(4952), HSD17B4(3295), TSFM(10102), SLC16A2(6567), MED12(9968), COL6A1(1291), EGR2(1959), SOX10(6663), COL6A2(1292), COL6A3(1293), AMPD1(270), GNPTAB(79158), NEB(4703), VPS13B(157680), DECR1(1666), DLAT(1737), UPB1(51733), SLC6A8(6535), ACOX1(51), MPZ(4359), ACTA1(58), PDHX(8050), SLC12A6(9990), MRPS16(51021), CPT2(1376), SDHAF1(644096)]
NEONATAL INSULIN-DEPENDENT DIABETES MELLITUS(HP:0000857)	[ZFP57(346171), TNDM(7952)]
NEONATAL JAUNDICE(HP:0000986)	[PEX19(5824), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), GALK1(2584), AMACR(23600), NPC2(10577), NPC1(4864), CDAN1(146059), SMPD1(6609), PEX26(55670)]
NEONATAL OR INFANTILE METABOLIC KETOACIDOSIS(HP:0005971)	[MUT(4594)]
NEONATAL PRIMARY HYPERPARATHYROIDISM(HP:0008254)	[CASR(846)]
NEONATAL RESPIRATORY DISTRESS(HP:0002643)	[NPHS1(4868), NKX2-1(7080), CHRNG(1146), CUL7(9820), ALDH7A1(501), PLEC(5339), MTM1(4534)]
NEONATAL TEETH(HP:0000695)	[KRT6B(3854), MKS1(54903), FAM123B(139285), GJA1(2697), DSP(1832), EVC2(132884), KRT17(3872), EVC(2121), ZMPSTE24(10269), GLI3(2737)]
NEONATAL UNCONJUGATED HYPERBILIRUBINEMIA(HP:0008176)	[UGT1A1(54658)]
NEONATAL WRINKLED SKIN OF HANDS AND FEET(HP:0007414)	[ATP6V0A2(23545)]
NEOPLASIA(HP:0002664)	[DDB1(1642), DDB2(1643), RET(5979), TINF2(26277), TRIM24(8805), TGFBR2(7048), NRAS(4893), H19(283120), DPM1(8813), GLI3(2737), DCR(1637), FAH(2184), KCNQ1OT1(10984), BRIP1(83990), NPM1(4869), THRB(7068), HRAS(3265), KIT(3815), THPO(7066), SNAI2(6591), FANCD2(2177), ABL1(25), FANCC(2176), FANCE(2178), GNPTAB(79158), GPC3(2719), NTRK1(4914), SEC23A(10484), TIMP2(7077), PICALM(8301), SLC5A5(6528), GJB2(2706), MPL(4352), TNFRSF10B(8795), VANGL1(81839), WNT10A(80326), AXIN2(8313), AXIN1(8312), KDR(3791), ATP7A(538), ZNF35(7584), ARHGEF12(23365), FH(2271), RARA(5914), BCR(613), FGFR3(2261), CDKN1B(1027), FGFR2(2263), CDKN1C(1028), CDKN2A(1029), POLH(5429), CEACAM5(1048), SOS1(6654), CEBPA(1050), SBDS(51119), POLA1(5422), TNF(7124), FES(2242), CES1(1066), ADA(100), MSH2(4436), GNAS(2778), SFTPA2(729238), CYLD(1540), DICER1(23405), SMARCB1(6598), PMS2(5395), CYP1A1(1543), SDHAF2(54949), CYP2D6(1565), JAK2(3717), CCND1(595), TPBG(7162), BCL2(596), TCL1A(8115), RB1CC1(9821), RB1(5925), OGG1(4968), BCL3(602), TP53(7157), ERBB2(2064), DEC1(50514), ERCC2(2068), ERCC3(2071), GATA1(2623), ERCC5(2073), HNF1A(6927), ERCC4(2072), ERCC6(2074), BRCA2(675), BRAF(673), TRIM33(51592), MAP2K1(5604), MAP2K2(5605), BUB1B(701), SLC22A18(5002), CCDC6(8030), HMBS(3145), NCOA4(8031), MLLT10(8028), SH3GL1(6455), BTK(695), NUP214(8021), TMC6(11322), TLX1(3195), AFP(174), DKC1(1736), WT2(7491), BLM(641), WT1(7490), TRA@(6955), IRF1(3659), PRKAR1A(5573), RECQL4(9401), RAD54L(8438), XPC(7508), MSR1(4481), PRKCA(5578), JAG1(182), BMPR1A(657), XPA(7507), WHSC1L1(54904), EXT2(2132), PAX7(5081), AKT1(207), PBX1(5087), INSR(3643), FLCN(201163), EXT1(2131), MYB(4602), EWSR1(2130), ERCC8(1161), TNFRSF13B(23495), PAX3(5077), RNASEL(6041), MUTYH(4595), DHCR24(1718), RMRP(6023), TRIM37(4591), PARK2(5071), WRN(7486), SLC17A3(10786), ETV1(2115), PRCC(5546), ING1(3621), ETV6(2120), HFE(3077), SUFU(51684), TERC(7012), TERT(7015), FANCA(2175), TFAP2A(7020), PCM1(5108), GMPS(8833), VHL(7428), MAD1L1(8379), GBA(2629), RNF6(6049), DLEC1(9940), MNX1(3110), GOLGA5(9950), PPP2R1B(5519), TGFA(7039), LYL1(4066), MYC(4609), SH2D1A(4068), NSD1(64324), RNF139(11236), MANF(7873), ESCO2(157570), PHB(5245), ALX3(257), STK11(6794), PTCH1(5727), SMAD4(4089), MSH6(2956), WWOX(51741), KIF1B(23095), TSPAN31(6302), AIP(9049), UROD(7389), CHEK2(11200), PTEN(5728), CREBBP(1387), PTH1R(5745), LZTS1(11178), MINPP1(9562), SDHD(6392), SDHC(6391), PDGFB(5155), SDHB(6390), NBN(4683), PDGFRB(5159), PDGFRL(5157), APOC2(344), SLC26A2(1836), COL4A6(1288), APC(324), LPL(4023), COL7A1(1294), GPC6(10082), MEN1(4221), RASSF1(11186), COL4A5(1287), SLC26A4(5172), LPP(4026), SLC37A4(2542), ARAF(369), G6PC(2538), MCF2(4168), RUNX1(861), MCL1(4170), LIPC(3990), TMC8(147138), OFD1(8481), MAP3K8(1326), DHH(50846), CASP10(843), AR(367), CASP8(841), TAL1(6886), KLF6(1316), PPM1D(8493), EP300(2033), DIRC2(84925), TWIST1(7291), FOXO1(2308), CTNNB1(1499), FLT3(2322), SOX2(6657), NF1(4763), FLT4(2324), FN1(2335), PTCH2(8643), ELK1(2002), MET(4233), PLAG1(5324), TSC1(7248), TSC2(7249), NF2(4771), AMLCR2(9163), ELANE(1991), SPINK1(6690), MGAT2(4247), SRY(6736), CD96(10225), CDK4(1019), ZBTB16(7704), MN1(4330), ATM(472), PIK3CA(5290), CDC73(79577), PTPN11(5781), EGFR(1956), NME1(4830), MOS(4342), MLH3(27030), CDH1(999), CDK11B(984), FOXO4(4303), PTPRJ(5795), MLL(4297), MLH1(4292), KRAS(3845), MLF1(4291), SERPINA1(5265), SSTR5(6755), ANTXR2(118429), PNP(4860)]
NEOPLASIA OF FATTY TISSUE(HP:0200013)	[LIPC(3990), APC(324), LPL(4023), ALX3(257), TSPAN31(6302), VANGL1(81839), PTEN(5728), MEN1(4221), TSC1(7248), TSC2(7249), APOC2(344)]
NEOPLASIA OF THE BREAST(HP:0100013)	[AKT1(207), MSH2(4436), TWIST1(7291), PIK3CA(5290), MLH1(4292), TIMP2(7077), FGFR2(2263), PTEN(5728), KRAS(3845), CDKN2A(1029), CTNNB1(1499), BRIP1(83990), SLC22A18(5002), STK11(6794), RB1CC1(9821), RAD54L(8438), TP53(7157), PPM1D(8493)]
NEOPLASIA OF THE CENTRAL NERVOUS SYSTEM(HP:0100006)	[ERBB2(2064), RET(5979), MN1(4330), PDGFB(5155), NBN(4683), GLI3(2737), APC(324), ALX3(257), SOX2(6657), NF1(4763), NME1(4830), PTCH1(5727), PTCH2(8643), MSH2(4436), MSH6(2956), SUFU(51684), MLH1(4292), PMS2(5395), PTEN(5728), TSC1(7248), NF2(4771), TSC2(7249), RUNX1(861), VHL(7428), CCND1(595), OFD1(8481), TP53(7157)]
NEOPLASIA OF THE NERVOUS SYSTEM(HP:0004375)	[ERBB2(2064), RET(5979), MN1(4330), EWSR1(2130), SDHD(6392), SDHC(6391), PDGFB(5155), SDHB(6390), NBN(4683), GLI3(2737), APC(324), ALX3(257), SOX2(6657), NF1(4763), PTCH1(5727), NME1(4830), PTCH2(8643), MSH2(4436), MSH6(2956), SUFU(51684), MLH1(4292), PMS2(5395), PTEN(5728), TSC1(7248), NF2(4771), TSC2(7249), RUNX1(861), SDHAF2(54949), VHL(7428), CCND1(595), OFD1(8481), TP53(7157)]
NEOPLASIA OF THE PANCREAS(HP:0002894)	[MANF(7873), CCND1(595), SPINK1(6690), STK11(6794), CDC73(79577), TP53(7157), CDKN2A(1029), VHL(7428)]
NEOPLASIA OF THE PERIPHERAL NERVOUS SYSTEM(HP:0100007)	[NF1(4763), SDHD(6392), EWSR1(2130), SDHC(6391), SDHB(6390), NF2(4771), SDHAF2(54949)]
NEOPLASIA OF THE SKIN(HP:0008069)	[DDB1(1642), DDB2(1643), CDK4(1019), FH(2271), TINF2(26277), ERCC2(2068), ERCC3(2071), ERCC8(1161), ERCC5(2073), ERCC4(2072), CDKN2A(1029), CTNNB1(1499), POLH(5429), MUTYH(4595), ALX3(257), HRAS(3265), COL7A1(1294), NF1(4763), PTCH1(5727), ING1(3621), MEN1(4221), MSH2(4436), MSH6(2956), TMC6(11322), TERC(7012), TERT(7015), CYLD(1540), MLH1(4292), PMS2(5395), DKC1(1736), PTEN(5728), BLM(641), TSC1(7248), NF2(4771), TSC2(7249), GJB2(2706), TMC8(147138), PRKAR1A(5573), TNFRSF10B(8795), RECQL4(9401), XPC(7508), WNT10A(80326), PRKCA(5578), XPA(7507), TGFA(7039)]
NEOPLASIA OF THE THYROID GLAND(HP:0100031)	[RET(5979), TRIM24(8805), NTRK1(4914), MINPP1(9562), PTEN(5728), NRAS(4893), CDC73(79577), PCM1(5108), TRIM33(51592), APC(324), PRKAR1A(5573), CCDC6(8030), NCOA4(8031), JAG1(182), GOLGA5(9950), SLC26A4(5172)]
NEPHRITIS(HP:0000123)	[ALMS1(7840), MYH9(4627), CASP10(843), COL4A4(1286), COL4A3(1285)]
NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667)	[GPC3(2719), NSD1(64324), CDC73(79577), CDKN1C(1028), BRCA2(675), WT2(7491), H19(283120), CDKN2A(1029), WT1(7490), KCNQ1OT1(10984), TRIM37(4591), BUB1B(701), TP53(7157)]
NEPHROCALCINOSIS(HP:0000121)	[FAH(2184), CLDN19(149461), CLCN5(1184), CLDN16(10686), SLC12A1(6557), SBDS(51119), ALPL(249), AGXT(189), CLCNKB(1188), KCNJ1(3758), PTH1R(5745), SLC4A1(6521)]
NEPHROGENIC DIABETES INSIPIDUS(HP:0009806)	[MKKS(8195), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), ARL6(84100), BBS4(585), CEP290(80184), BBS12(166379), BBS10(79738), MKS1(54903), BBS7(55212), BBS9(27241), TTC8(123016)]
NEPHRONOPHTHISIS(HP:0000090)	[NPHP4(261734), NPHP1(4867), TMEM216(51259), AHI1(54806), IQCB1(9657), CEP290(80184)]
NEPHROPATHY(HP:0000112)	[ASAH1(427), WAS(7454), LYZ(4069), VPS33B(26276), SLC2A2(6514), APOA1(335), SCARB2(950), WT1(7490), UMOD(7369), FGA(2243), CTNS(1497)]
NEPHROSCLEROSIS(HP:0009741)	[FGF10(2255), FGFR3(2261)]
NEPHROSIS(HP:0000801)	[GATA3(2625), NPHS1(4868), AFP(174)]
NEPHROTIC SYNDROME(HP:0000100)	[PLCE1(51196), SMARCAL1(50485), LMNB2(84823), COQ9(57017), LAMB2(3913), LYZ(4069), NPHS2(7827), WT1(7490), LMX1B(4010), PDSS2(57107), TTR(7276), MEFV(4210), SLC17A5(26503), GSN(2934), COQ2(27235), CASP10(843), APOA1(335), PDSS1(23590), APTX(54840), PMM2(5373), FN1(2335), FGA(2243), CABC1(56997)]
NEPHROTIC SYNDROME, PROGRESSING TO ENDSTAGE KIDNEY DISEASE(HP:0004718)	[PLCE1(51196)]
NERVE BIOPSY OF AFFECTED REGION MAY SHOW AXONAL DEGENERATION(HP:0006876)	[SEPT9(10801)]
NERVE BIOPSY SHOWS AXONAL DEGENERATION(HP:0007304)	[IGHMBP2(3508), MFN2(9927), APTX(54840)]
NERVE BIOPSY SHOWS AXONAL NEUROPATHY(HP:0006842)	[HSPB8(26353)]
NERVE BIOPSY SHOWS LOSS OF LARGE MYELINATED FIBERS(HP:0007031)	[GDAP1(54332)]
NEUROAXONAL DEGENERATION IN THE BRAIN(HP:0006874)	[PANK2(80025)]
NEUROBLASTIC TUMORS(HP:0004376)	[RET(5979), MSH2(4436), MSH6(2956), NME1(4830), MLH1(4292), PMS2(5395), PTEN(5728), RUNX1(861)]
NEUROBLASTOMA(HP:0003006)	[MSH2(4436), MSH6(2956), NME1(4830), MLH1(4292), PMS2(5395), RUNX1(861)]
NEUROBLASTOMA, ARISES ANYWHERE ALONG THE SYMPATHETIC CHAIN(HP:0006738)	[NME1(4830)]
NEURODEGENERATION(HP:0002180)	[IDS(3423), GALC(2581), PDHA1(5160), PANK2(80025), GUSB(2990), LYST(1130), NBN(4683), POLG(5428), DNMT3B(1789)]
NEUROFIBRILLARY TANGLES(HP:0002185)	[PRNP(5621), PSEN1(5663), NPC2(10577), NPC1(4864), APP(351), MAPT(4137), APOE(348), PSEN2(5664)]
NEUROFIBRILLARY TANGLES COMPOSED OF DISORDERED MICROTUBULES IN NEURONS(HP:0003132)	[PSEN1(5663), APOE(348)]
NEUROFIBRILLARY TANGLES MAY BE PRESENT(HP:0007070)	[PRNP(5621)]
NEUROFIBROMAS(HP:0001067)	[NF1(4763), NF2(4771)]
NEUROFIBROMAS CAN OCCUR AT CERVICAL, THORACIC, LUMBAR, AND SACRAL LEVELS(HP:0007077)	[NF1(4763)]
NEUROFIBROMAS MAY OR MAY NOT BE PRESENT(HP:0007386)	[NF1(4763)]
NEUROFIBROMATOSIS(HP:0006746)	[NF2(4771)]
NEUROGENIC BLADDER(HP:0000011)	[WFS1(7466), VANGL1(81839), MNX1(3110)]
NEUROGENIC MUSCLE ATROPHY(HP:0003702)	[ERBB3(2065), SPG11(80208), DOK7(285489), RAPSN(5913)]
NEUROGENIC SCAPULOPERONEAL AMYOTROPHY(HP:0006920)	[TRPV4(59341)]
NEUROLOGICAL ABNORMALITY(HP:0000707)	[FBN1(2200), FBN2(2201), HIBCH(26275), SUCLG1(8802), FBP1(2203), TINF2(26277), SPINK5(11005), SACS(26278), CCBE1(147372), DPM1(8813), SLC16A1(6566), SLC16A2(6567), TRPM6(140803), SLC22A5(6584), FAH(2184), ABCA1(19), ABAT(18), HESX1(8820), ABCB7(22), FANCD2(2177), FANCC(2176), FANCE(2178), ACADM(34), ACADS(35), ACADL(33), ACAT1(38), ACADSB(36), ACADVL(37), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), MPL(4352), MPZ(4359), SLC12A3(6559), MPV17(4358), ACP2(53), SLC12A1(6557), ACTA1(58), PUS1(80324), WNT10A(80326), TNFRSF11A(8792), ACTB(60), SNRPN(6638), ACTG1(71), UPF3B(65109), FH(2271), FGFR1(2260), FGFR3(2261), FGFR2(2263), FGF14(2259), FGF10(2255), SOS1(6654), FGF3(2248), HSPB8(26353), FGD1(2245), ACY1(95), SOD1(6647), ACVRL1(94), FGA(2243), GDF6(392255), ACVR1(90), SMN1(6606), FOXC2(2303), MSH2(4436), CCM2(83605), FOXI1(2299), SMCR(6600), NDUFA11(126328), ALOXE3(59344), WNK1(65125), TRPV4(59341), SNCA(6622), SNCB(6620), SMS(6611), TUBB2B(347733), SMPD1(6609), ERBB3(2065), ERBB2(2064), ABCA12(26154), ERCC2(2068), ERCC3(2071), EYA4(2070), PHOX2B(8929), ERCC4(2072), SGCB(6443), SGCA(6442), ERCC6(2074), SGCG(6445), MTM1(4534), SGSH(6448), C7orf11(136647), TMEM67(91147), MTHFR(4524), BLOC1S3(388552), ADSL(158), CLN8(2055), AGA(175), MFSD8(256471), SPG11(80208), AFP(174), SGCE(8910), MTMR2(8898), FTCD(10841), ETFDH(2110), ETFB(2109), ETFA(2108), MSX2(4488), AGTR1(185), AHCY(191), AGL(178), OPA3(80207), KIAA1279(26128), JAG1(182), AGT(183), GJB6(10804), EXT2(2132), MYBPC3(4607), SQSTM1(8878), SEPT9(10801), SIX3(6496), EXT1(2131), EWSR1(2130), ST3GAL5(8869), CEP290(80184), MVK(4598), SLC1A1(6505), MUSK(4593), EYA1(2138), MUT(4594), EIF2B2(8892), EIF2B5(8893), SLC3A1(6519), TRIM37(4591), SLC2A1(6513), EIF2B4(8890), SLC2A2(6514), EIF2B3(8891), GDAP1(54332), ABCD1(215), EVC(2121), SLC4A1(6521), PHGDH(26227), ALAD(210), PCDH15(65217), SMARCAL1(50485), FRAS1(80144), SHH(6469), F13A1(2162), FANCA(2175), WISP3(8838), ALDOB(229), TSEN54(283989), ALDOA(226), SHOX(6473), ALDH3A2(224), WNK4(65266), MTRR(4552), ALPL(249), F10(2159), MTR(4548), ALOX12B(242), MTTP(4547), AMT(275), SCN5A(6331), BIN1(274), SCN4A(6329), MAOA(4128), SCN9A(6335), NAGS(162417), SCN1A(6323), ANCR(282), HPS5(11234), MAPT(4137), MAT1A(4143), SCN2A(6326), SLC6A19(340024), ATXN7(6314), ATXN8OS(6315), SLC7A7(9056), ALX3(257), MATN3(4148), PAPSS2(9060), MC2R(4158), AMPD1(270), ATXN1(6310), ATXN2(6311), SC5DL(6309), SALL1(6299), RAB39B(116442), AIP(9049), NUP62(23636), DCAF17(80067), C10orf2(56652), SLC25A4(291), SLC17A5(26503), SEC63(11231), CNNM4(26504), MAN2B1(4125), MANBA(4126), SLC6A20(54716), APOB(338), CNGB3(54714), SDHD(6392), SDHC(6391), APP(351), SDHB(6390), SDHA(6389), INPP5E(56623), MECP2(4204), APOE(348), PDP1(54704), APC(324), MEFV(4210), APOA1(335), PDSS1(23590), FUCA1(2517), FTL(2512), BSCL2(26580), CHST6(4166), ABCC6(368), IL1RAPL1(11141), ARG1(383), SLC7A9(11136), AQP2(359), PANK2(80025), GAA(2548), AR(367), UGT1A1(54658), LDB3(11155), ARSA(410), ARSB(411), LGI1(9211), ARSE(415), LARGE(9215), STS(412), RPS6KA3(6197), MGP(4256), PHOX2A(401), FLNC(2318), GRHL2(79977), FLNA(2316), CIITA(4261), FLNB(2317), MID1(4281), ATXN3(4287), MITF(4286), FMO3(2328), AFF2(2334), FMR1(2332), ASPA(443), OSMR(9180), ASS1(445), TRIOBP(11078), ASL(435), L2HGDH(79944), ASAH1(427), ASCL1(429), ADAMTS13(11093), SLC6A5(9152), MGAT2(4247), CTDP1(9150), ATP1A3(478), RYR1(6261), ATP1A2(477), MN1(4330), ATM(472), ATIC(471), MMP13(4322), MPI(4351), SERPINC1(462), KCNQ4(9132), FXN(2395), MOCS2(4338), MOCS1(4337), MLH1(4292), ALDH7A1(501), HYLS1(219844), ANTXR2(118429), MMP2(4313), ATP2A2(488), HPS4(89781), ATP2A1(487), FXYD2(486), TH(7054), AUH(549), ATRX(546), TGIF1(7050), GLUD1(2746), NPR2(4882), TGM1(7051), ATXN8(724066), ATR(545), TGFBR1(7046), GLRB(2743), CLN6(54982), GLRA1(2741), TGFBI(7045), AVPR2(554), CRBN(51185), TGFB1(7040), MCCC1(56922), GLI3(2737), GLE1(2733), THRB(7068), GLDC(2731), NPHP1(4867), GCLC(2729), NPC1(4864), EMG1(10436), MYO15A(51168), GLB1(2720), TK2(7084), COLQ(8292), GLA(2717), GPC3(2719), NKX2-1(7080), NTRK1(4914), DYSF(8291), MRPS22(56945), ATP6V1B1(525), GK(2710), ROR2(4920), GJB1(2705), DDR2(4921), GJB2(2706), GTF2H5(404672), SLC9A6(10479), RAB3GAP2(25782), GJA1(2697), ATP7B(540), PROKR2(128674), GIF(2694), ATP7A(538), SAR1B(51128), MKKS(8195), FBXO7(25793), OCA2(4948), NDRG1(10397), GDF5(8200), OCRL(4952), BCS1L(617), COL18A1(80781), BDNF(627), GPR143(4935), ATXN10(25814), GNS(2799), SBDS(51119), TUBB3(10381), OAT(4942), OPA1(4976), ABHD5(51099), GNAS(2778), TNFRSF11B(4982), BBS1(582), OPHN1(4983), BBS2(583), BBS4(585), TNNT1(7138), NIPBL(25836), BCHE(590), SIX6(4990), SDHAF2(54949), BCKDHA(593), GM2A(2760), CCND1(595), KDM5C(8242), BCKDHB(594), OGDH(4967), TPI1(7167), TP53(7157), SDHAF1(644096), BTD(686), PLA2G6(8398), ATL1(51062), TBX15(6913), TMPRSS3(64699), GATA1(2623), CC2D1A(54862), BRAF(673), OTC(5009), GARS(2617), BUB1B(701), HNF1B(6928), GALT(2592), GAMT(2593), SLC46A1(113235), BTK(695), TCIRG1(10312), TCOF1(6949), PAH(5053), GALC(2581), TCN2(6948), BMP4(652), GALE(2582), BCOR(54880), GALNS(2588), PSAT1(29968), BLM(641), FOXL2(668), MKS1(54903), GABRG2(2566), GNPAT(8443), C20orf54(113278), MRPS16(51021), GAD1(2571), POMT2(29954), PAX6(5080), GGCX(2677), B4GALT1(2683), PAX3(5077), ZMPSTE24(10269), PAX2(5076), GPHN(10243), CA2(760), GDF1(2657), PARK2(5071), AHI1(54806), FAM20C(56975), DYM(54808), GDI1(2664), GFAP(2670), PAK3(5063), TECTA(7007), GDNF(2668), GCH1(2643), COQ9(57017), GCK(2645), PCNT(5116), SOST(50964), CHST14(113189), GCSH(2653), TFAP2B(7021), TFAP2A(7020), SERPING1(710), PCCB(5096), GATA3(2625), C8A(731), C8B(732), GBA(2629), GBE1(2632), APTX(54840), PC(5091), TG(7038), GCDH(2639), PCCA(5095), CABC1(56997), PITPNM3(83394), MYCN(4613), P2RY12(64805), GUSB(2990), MYH3(4621), SALL4(57167), AGPS(8540), GJC2(57165), CAPN3(825), GUCA1A(2978), MYF6(4618), IKBKG(8517), IKBKAP(8518), PDE11A(50940), CDKL5(6792), GUCY2D(3000), MYH7(4625), MYH8(4626), USH1G(124590), MYH9(4627), AURKC(6795), FOXP2(93986), GYS2(2998), CANT1(124583), MYO7A(4647), YARS(8565), MSH6(2956), MYO5A(4644), SLC25A20(788), SEPN1(57190), MCOLN1(57192), SURF1(6834), ABCC8(6833), CACNA1A(773), AP3B1(8546), CACNB2(783), RAI1(10743), NAGA(4668), NAGLU(4669), SUOX(6821), TCAP(8557), CACNA1F(778), CACNA1S(779), TAF1(6872), HCCS(3052), UOX(391051), KRIT1(889), ALG6(29929), EVC2(132884), NBN(4683), CYP2R1(120227), HTT(3064), NCF2(4688), PDSS2(57107), CUL4B(8450), NDN(4692), NDP(4693), NDUFA1(4694), NDUFA2(4695), CBS(875), HCRT(3060), SYN1(6853), NEB(4703), ALX4(60529), SERPINA7(6906), TBCE(6905), TBP(6908), TBX1(6899), CAV3(859), ATCAY(85300), PORCN(64840), PEX3(8504), NDUFS1(4719), RUNX1(861), RUNX2(860), EBP(10682), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), HADHB(3032), OFD1(8481), HADH(3033), BBS7(55212), NDUFS6(4726), CLDN16(10686), NDUFS4(4724), AGRN(375790), NDUFS8(4728), CASR(846), HADHA(3030), PRSS12(8492), HSD17B10(3028), HAGH(3029), CD40(958), SLC4A4(8671), CD40LG(959), SLC19A2(10560), NEFL(4747), SCARB2(950), SPG7(6687), NDUFAF2(91942), ALDH4A1(8659), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), NF1(4763), NSDHL(50814), NEU1(4758), ANO5(203859), POMT1(10585), PTCH2(8643), GPI(2821), NDUFAF3(25915), D2HGDH(728294), NF2(4771), SPTBN2(6712), PNPO(55163), GFM1(85476), JPH3(57338), THAP1(55145), SPR(6697), TNFSF11(8600), NHS(4810), NGF(4803), PINK1(65018), GSN(2934), NME1(4830), GSS(2937), CHMP2B(25978), ST14(6768), TP63(8626), RFXANK(8625), MMACHC(25974), SSTR5(6755), GRN(2896), PDE8B(8622), PNP(4860), SLC34A3(142680), PNKD(25953), SPTLC1(10558), NOTCH3(4854), FKRP(79147), CHAT(1103), MMADHC(27249), PPOX(5498), MCCC2(64087), HSD17B4(3295), H19(283120), DNAJC19(131118), SLC35C1(55343), HRAS(3265), COQ2(27235), CDH23(64072), DOLK(22845), CTSA(5476), MATR3(9782), UBR1(197131), BBS9(27241), GNPTAB(79158), CHRNA1(1134), TMC1(117531), NOD2(64127), LYST(1130), HSPB1(3315), POU3F4(5456), C20orf7(79133), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), CHRNB1(1140), CHRNA4(1137), DISC2(27184), CDR1(1038), ZEB2(9839), BBS12(166379), POLG(5428), KCTD7(154881), CDKN2A(1029), POLH(5429), HOXA11(3207), CECR(1055), POLA1(5422), ASPM(259266), C8orf38(137682), HPRT1(3251), CNBP(7555), CETP(1071), PMS2(5395), HPS1(3257), HOXD13(3239), FASTKD2(22868), CUL7(9820), CTSC(1075), GNPTG(84572), HPD(3242), PMP22(5376), PRNP(5621), TRIM32(22954), CCT5(22948), PRPS1(5631), ROBO3(64221), STRA6(64220), PRODH(5625), KIAA0196(9897), PROC(5624), HMGCL(3155), PROP1(5626), MAP2K1(5604), MAP2K2(5605), HMBS(3145), ZIC1(7545), MAPK10(5602), FAM126A(84668), HLCS(3141), HOXA2(3199), PRKCSH(5589), CNGA3(1261), FGD4(121512), VMA21(203547), PRKAR1A(5573), PRKCG(5582), COL1A2(1278), RPIA(22934), XPC(7508), COL1A1(1277), RAB3GAP1(22930), XPA(7507), WHCR(7467), WFS1(7466), WHSC1(7468), ERCC8(1161), MED12(9968), HGF(3082), PPT1(5538), NCF1(653361), BEAN(146227), WNT3(7473), HEXA(3073), HEXB(3074), CFH(3075), CLCN1(1180), WNT7A(7476), NOP10(55505), CLCN7(1186), PPP2R2B(5521), FRMD7(90167), BEST1(7439), MFN2(9927), SUFU(51684), VLDLR(7436), CLCNKB(1188), VHL(7428), VWF(7450), CLN5(1203), TPP1(1200), CLN3(1201), WAS(7454), VRK1(7443), MNX1(3110), LEPRE1(64175), VCP(7415), CPT1A(1374), PGK1(5230), CPS1(1373), CPOX(1371), PGAM2(5224), NSD1(64324), VDR(7421), ESCO2(157570), USH2A(7399), CP(1356), COX15(1355), KIF21A(55605), GNE(10020), CLRN1(7401), UQCRB(7381), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), IL2RG(3561), PEPD(5184), CRH(1392), NR2E3(10002), SCO2(9997), PFKM(5213), CREBBP(1387), SIL1(64374), SLC12A6(9990), UNG(7374), CPT2(1376), UCHL1(7345), PDHA1(5160), COMP(1311), ENPP1(5167), COL9A3(1299), PDGFB(5155), COL9A2(1298), NHP2(55651), TSFM(10102), COL11A2(1302), COL11A1(1301), PDGFRA(5156), COL5A2(1290), COL6A1(1291), COL4A6(1288), COL5A1(1289), COL7A1(1294), IGF1(3479), IGBP1(3476), COL6A2(1292), COL6A3(1293), COL4A1(1282), GPC6(10082), USH1C(10083), COL2A1(1280), IGF1R(3480), UBE3A(7337), COL4A5(1287), PQBP1(10084), TTC8(123016), PEX26(55670), SLC26A4(5172), POMGNT1(55624), VPS13B(157680), UBA1(7317), COX6B1(1340), SLC39A4(55630), SPG21(51324), FLVCR2(55640), TYR(7299), IGHMBP2(3508), TTBK2(146057), TYROBP(7305), TYRP1(7306), CHD7(55636), SLC25A15(10166), PLOD1(5351), TWIST1(7291), CTH(1491), PLP1(5354), CTNS(1497), IDS(3423), IYD(389434), CSTB(1476), TTR(7276), TTPA(7274), TTN(7273), ATP6AP2(10159), PMM2(5373), AASS(10157), NKX2-5(1482), LRPPRC(10128), TSPYL1(7259), TSHB(7252), TSHR(7253), SP110(3431), CYBA(1535), TSC1(7248), TSC2(7249), CFI(3426), CTSD(1509), ARX(170302), MBTPS2(51360), PLG(5340), HSPG2(3339), MBD5(55777), TRPS1(7227), CD96(10225), HSPD1(3329), LMBRD1(55788), CRYAB(1410), TRH(7200), PKD2(5311), PITX2(5308), ALG3(10195), MMAB(326625), PHEX(5251), PHKA1(5255), PHKA2(5256), CDK5RAP2(55755), PHKB(5257), CST3(1471), PHYH(5264), TPM2(7169), TPM3(7170), TPMT(7172), SH3TC2(79628), RET(5979), DDB2(1643), CENPJ(55835), DCX(1641), MMAA(166785), DDC(1644), GAN(8139), VAPB(9217), DCTN1(1639), ACE(1636), REN(5972), DCR(1637), RDX(5962), NOG(9241), LRRK2(120892), GCM2(9247), CRLF1(9244), RPGRIP1L(23322), SBF2(81846), KIF5A(3798), MCPH1(79648), RFX5(5993), RFXAP(5994), KCNMA1(3778), DBT(1629), DCC(1630), KCNQ2(3785), VANGL1(81839), KCNQ1(3784), KCNQ3(3786), DBH(1621), DBI(1622), NPHP4(261734), NDUFS7(374291), KCNJ11(3767), GPR56(9289), RAPSN(5913), FGF23(8074), MED25(81857), AAAS(8086), KCNC3(3748), CYP27B1(1594), RAG2(5897), CYP27A1(1593), UROC1(131669), RAG1(5896), KCNJ2(3759), KCNJ1(3758), GPR98(84059), CYP11B2(1585), DTNBP1(84062), KAL1(3730), NDUFAF4(29078), CYBB(1536), KCNA1(3736), ATP13A2(23400), PABPN1(8106), CYP2D6(1565), IGHR(8117), JAK2(3717), BBS10(79738), ZFPM2(23414), SNAP29(9342), FAM123B(139285), DOK7(285489), IVD(3712), MLYCD(23417), CRB1(23418), AMN(81693), SLC25A22(79751), DMPK(1760), RPGR(6103), ITPR1(3708), ZIC4(84107), ARL6(84100), B4GALT7(11285), ITGB3(3690), ALS2(57679), TREX1(11277), CUBN(8029), DNM2(1785), LHX3(8022), DNMT3B(1789), DIAPH1(1729), ITGA2B(3674), OTOF(9381), DLAT(1737), DKC1(1736), IRF6(3664), PARK7(11315), DLD(1738), PRX(57716), MYH14(79784), DOCK8(81704), RECQL4(9401), RPE65(6121), PDHX(8050), ETHE1(23474), DMD(1756), HPS6(79803), DMP1(1758), ZFYVE26(23503), EHMT1(79813), INSR(3643), ACAD9(28976), TNFRSF13B(23495), CYP7B1(9420), INS(3630), DHCR24(1718), RMRP(6023), DGUOK(1716), DHCR7(1717), DGCR(1714), OSTM1(28962), CYB5R3(1727), EPM2A(7957), ITM2B(9445), HGSNAT(138050), ALG1(56052), CLCF1(23529), DECR1(1666), ROBLD3(28956), TIMM8A(1678), EIF2AK3(9451), DES(1674), DFNA5(1687), ATP6V0A2(23545), ARHGEF6(9459), CHST3(9469), CLDN19(149461), MYOT(9499), LYZ(4069), SH2D1A(4068), BBS5(129880), TACSTD2(4070), SETX(23064), EDNRA(1909), EDN3(1908), EDNRB(1910), RAB7A(7879), PTCH1(5727), SMAD4(4089), TYMP(1890), ECM1(1893), NIPA1(123606), KIF1B(23095), PTH(5741), LRP2(4036), LRP5(4041), PTEN(5728), UPB1(51733), LITAF(9516), ALDH5A1(7915), RAB23(51715), PTH1R(5745), DYT3(1863), TOR1A(1861), ADAMTS2(9509), LMNB1(4001), LMNA(4000), NHLRC1(378884), LMX1B(4010), PRPS2(5634), SLC26A2(1836), PSAP(5660), SPG20(23111), LPL(4023), PSEN1(5663), PHF6(84295), BSND(7809), DSPP(1834), TREM2(54209), NLGN4X(57502), RELN(5649), ANKH(56172), ATN1(1822), HPS3(84343), DRD2(1813), LIFR(3977), PSEN2(5664), DPYD(1806), TUBA1A(7846), DPYS(1807), PCDH19(57526), ALMS1(7840), MOGS(7841), DPAGT1(1798), PAX8(7849), PEX19(5824), ABCD3(5825), EP300(2033), PEX2(5828), PEX5(5830), PYGM(5837), ENG(2022), UQCRQ(27089), ENO3(2027), SLC36A2(153201), LPIN1(23175), PLEKHG5(57449), LAMB2(3913), VPS13A(23230), QDPR(5860), EMD(2010), LAMA2(3908), LBR(3930), RAB27A(5873), MLC1(23209), ARHGEF10(9639), LAMP2(3920), DNAI1(27019), PTPN11(5781), EGR2(1959), L1CAM(3897), EIF2B1(1967), NPHP3(27031), FREM2(341640), ADAMTSL2(9719), KRT5(3852), NLRP3(114548), KRAS(3845), PTS(5805), SEMA3E(9723), EFNB1(1947), SUMF1(285362), AICDA(57379), DUOXA2(405753), SLITRK1(114798)]
NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167)	[MYOT(9499), DCX(1641), AUH(549), BBS5(129880), ATXN8(724066), SACS(26278), SETX(23064), NSD1(64324), GAN(8139), ANCR(282), MAPT(4137), GJC2(57165), DCTN1(1639), SLC16A2(6567), ATXN7(6314), ATXN8OS(6315), CP(1356), CDKL5(6792), ABCB7(22), NPC1(4864), COQ2(27235), FOXP2(93986), ATXN1(6310), BBS9(27241), ATXN2(6311), COLQ(8292), CHRNA1(1134), NKX2-1(7080), UPB1(51733), DCAF17(80067), GJB1(2705), C10orf2(56652), CACNA1A(773), GJA1(2697), SLC17A5(26503), CHRNE(1145), CREBBP(1387), CHRND(1144), SIL1(64374), ATP7B(540), CHRNB1(1140), DBH(1621), MAN2B1(4125), MANBA(4126), TOR1A(1861), MKKS(8195), UCHL1(7345), FH(2271), RAPSN(5913), MECP2(4204), KCTD7(154881), BBS12(166379), POLG(5428), FGF14(2259), PSAP(5660), AAAS(8086), PDSS2(57107), SPG20(23111), KCNC3(3748), PSEN1(5663), ATXN10(25814), TREM2(54209), PDSS1(23590), SOD1(6647), UBE3A(7337), FTL(2512), TTC8(123016), HPRT1(3251), BBS1(582), BBS2(583), TBP(6908), ATCAY(85300), BBS4(585), KCNA1(3736), ATP13A2(23400), PABPN1(8106), BBS10(79738), PANK2(80025), BBS7(55212), TTBK2(146057), TYROBP(7305), AR(367), SMS(6611), HSD17B10(3028), PRNP(5621), ARSA(410), EP300(2033), TRIM32(22954), ITPR1(3708), ARL6(84100), SCARB2(950), SPG7(6687), CC2D1A(54862), PLP1(5354), CSTB(1476), TTR(7276), ATXN3(4287), NPC2(10577), GALT(2592), FAM126A(84668), ALS2(57679), TREX1(11277), VPS13A(23230), SPG11(80208), DLAT(1737), L2HGDH(79944), SPTBN2(6712), MKS1(54903), ARX(170302), JPH3(57338), PRKCG(5582), OPA3(80207), ATP1A3(478), ZFYVE26(23503), WFS1(7466), ATP1A2(477), ATM(472), ERCC8(1161), CEP290(80184), CYP7B1(9420), MUSK(4593), PPT1(5538), TRIM37(4591), L1CAM(3897), SLC2A1(6513), BEAN(146227), GSS(2937), HEXB(3074), CFH(3075), FXN(2395), CHMP2B(25978), PPP2R2B(5521), COQ9(57017), TIMM8A(1678), GRN(2896), CLN3(1201), GBA(2629), PDE8B(8622), APTX(54840), PNKD(25953), CABC1(56997)]
NEURONAL LOSS(HP:0002400)	[PRNP(5621), ATN1(1822), PLA2G6(8398), TBP(6908), MAPT(4137), TSEN54(283989), POLG(5428), DCTN1(1639), HTT(3064), CTSD(1509), PSAP(5660), SCO2(9997), LRRK2(120892), PSEN1(5663), PARK2(5071), VRK1(7443), PC(5091)]
NEURONAL LOSS IN THE CEREBRAL CORTEX(HP:0007190)	[PC(5091)]
NEURONAL MIGRATION DISORDER(HP:0002269)	[MED12(9968), LARGE(9215), CPT2(1376), FLNA(2316)]
NEUROPATHIC ARTHROPATHY(HP:0002821)	[IKBKAP(8518), NTRK1(4914)]
NEUROPATHOLOGIC EXAMINATION SHOWS SEVERE DEMYELINATION(HP:0006939)	[TREM2(54209), TYROBP(7305)]
NEUROPATHOLOGY SHOWS NEURONAL LOSS IN BASAL GANGLIA, BRAINSTEM, AND CEREBELLUM(HP:0002529)	[MAPT(4137)]
NEUROPATHY(HP:0003407)	[ARSA(410), CTDP1(9150), CPOX(1371), PPOX(5498), CCT5(22948), NGF(4803), WNK1(65125), EGR2(1959), TTR(7276), SNAP29(9342), MPZ(4359), HMBS(3145), GDAP1(54332), MATR3(9782), ALAD(210)]
NEUROPHYSIOLOGICAL ABNORMALITY(HP:0001311)	[EP300(2033), FKRP(79147), LARGE(9215), ANCR(282), CLN6(54982), PRODH(5625), SCN2A(6326), DPM1(8813), BUB1B(701), CDKL5(6792), NF1(4763), CLN8(2055), DOLK(22845), UQCRQ(27089), AASS(10157), POMT1(10585), GALC(2581), UQCRB(7381), MFSD8(256471), UPB1(51733), ABCC8(6833), FKTN(2218), MKS1(54903), ARX(170302), CREBBP(1387), ALDH5A1(7915), PLG(5340), POMT2(29954), KCNJ11(3767), DISC2(27184), CD96(10225), EVC2(132884), MECP2(4204), BCS1L(617), INS(3630), PPT1(5538), DHCR7(1717), PHF6(84295), SLC2A1(6513), TREM2(54209), NLGN4X(57502), UBE3A(7337), NPHP3(27031), EVC(2121), PHGDH(26227), ALG3(10195), POMGNT1(55624), GCK(2645), HYLS1(219844), EBP(10682), CLN5(1203), TPP1(1200), TYROBP(7305)]
NEUROPSYCHOLOGIC COGNITIVE ABNORMALITIES(HP:0006972)	[COL4A1(1282)]
NEUTRAL HYPERAMINOACIDURIA(HP:0008353)	[SLC6A19(340024)]
NEUTROPENIA(HP:0001875)	[CD40(958), CD40LG(959), MMAA(166785), LMBRD1(55788), CIITA(4261), RMRP(6023), SBDS(51119), FANCD2(2177), FANCC(2176), FANCE(2178), FMO3(2328), SMARCAL1(50485), TCN2(6948), MMAB(326625), SLC37A4(2542), AGA(175), FANCA(2175), RFXANK(8625), MMACHC(25974), PCCB(5096), RFX5(5993), LBR(3930), RFXAP(5994), AP3B1(8546), ELANE(1991), WAS(7454), PNP(4860), FAS(355), CASP10(843), CXCR4(7852), SLC35A1(10559), PCCA(5095)]
NEUTROPHIL ANTIBODY POSITIVE(HP:0003453)	[PRTN3(5657), FAS(355), CASP10(843)]
NEVUS FLAMMEUS(HP:0001052)	[CD96(10225), ROR2(4920)]
NIGHT BLINDNESS(HP:0000662)	[MERTK(10461), RPGR(6103), GRM6(2916), RP2(6102), RP1(6101), RP9(6100), CYP4V2(285440), C1QTNF5(114902), NYX(60506), PDE6B(5158), USH2A(7399), PRPH2(5961), PRPF3(9129), RLBP1(6017), RDH5(5959), SPATA7(55812), OAT(4942), CLRN1(7401), RHO(6010), IMPDH1(3614), GRK1(6011), CRX(1406), PRPF8(10594), BEST1(7439), CNGB1(1258), SAG(6295), CHM(1121), NR2E3(10002), CNNM4(26504), CACNA1F(778)]
NIGHT BLINDNESS AND ABNORMAL FUNDUS(HP:0007865)	[RHO(6010)]
NIGHT BLINDNESS BEGINNING IN THE 6TH DECADE(HP:0007830)	[C1QTNF5(114902)]
NO SOCIAL INTERACTION(HP:0008763)	[ACOX1(51)]
NOCTURIA(HP:0000017)	[DBH(1621)]
NOCTURNAL HYPOVENTILATION(HP:0002877)	[COL6A1(1291), FKRP(79147), SEPN1(57190), COL6A2(1292), COL6A3(1293), C20orf54(113278)]
NODULAR CHANGES AFFECTING THE EYELIDS(HP:0010732)	[LIPA(3988), LPL(4023), APOB(338), LDLR(3949), TTPA(7274), CYP27A1(1593), APOA2(336), SMPD1(6609)]
NODULAR CORNEAL DYSTROPHY(HP:0007827)	[TGFBI(7045)]
NODULAR GOITER(HP:0005994)	[RET(5979)]
NON-ACIDOTIC PROXIMAL TUBULOPATHY(HP:0005574)	[LRP2(4036)]
NON-PURPOSEFUL ARM MOVEMENTS, CHOREOATHETOID-LIKE(HP:0007337)	[ST3GAL5(8869)]
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY(HP:0007634)	[NOTCH3(4854)]
NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA(HP:0007404)	[KRT16(3868), KRT1(3848)]
NONGRANULOMATOUS UVEITIS(HP:0007813)	[NOD2(64127)]
NONIMMUNE HYDROPS FETALIS(HP:0001790)	[LBR(3930), ALG1(56052), PKLR(5313), GBA(2629), FLT4(2324), SOX18(54345), PMM2(5373), COL1A1(1277)]
NONINSULIN-DEPENDENT DIABETES MELLITUS(HP:0005978)	[GCK(2645), PCNT(5116), HNF1B(6928), HNF1A(6927), HNF4A(3172), AKT2(208), BLM(641), PAX4(5078), ABCC8(6833)]
NONKETOTIC HYPERGLYCINEMIA(HP:0008288)	[AMT(275), GLDC(2731), GCSH(2653)]
NONKETOTIC HYPOGLYCEMIA(HP:0001958)	[ACADL(33), ACADVL(37), CPT2(1376)]
NONNUCLEAR POLYMORPHIC CONGENITAL CATARACT(HP:0007692)	[CRYGD(1421)]
NONOSSIFIED FIFTH METATARSAL(HP:0008087)	[FLNA(2316)]
NONPROGRESSIVE CORNEAL DYSTROPHY(HP:0007775)	[KRT3(3850), KRT12(3859)]
NONPROGRESSIVE DISORDER(HP:0003680)	[RYR1(6261), SEPN1(57190), KRT3(3850), CHRNE(1145), TUBB3(10381), RAPSN(5913), GBE1(2632), ATCAY(85300), CHRNB1(1140), MUSK(4593), KRT12(3859)]
NONPROGRESSIVE OR SLOWLY PROGRESSIVE(HP:0003685)	[RYR1(6261), SEPN1(57190)]
NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930)	[BPGM(669), PGK1(5230), GPI(2821), HK1(3098), HBA1(3039), TPI1(7167), HBA2(3040), HBB(3043)]
NORMAL INTERICTAL EEG(HP:0002372)	[SCN2A(6326)]
NORMAL OR INCREASED ADIPOSE TISSUE AROUND THE NECK(HP:0000468)	[LMNA(4000)]
NORMAL OR INCREASED FACIAL ADIPOSE TISSUE(HP:0000287)	[LMNA(4000)]
NORMAL OR INCREASED IGM(HP:0002962)	[CD40(958), CD40LG(959)]
NORMAL OR MILDLY DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003437)	[MED25(81857), MFN2(9927), LMNA(4000), KIF1B(23095), HSPB1(3315), RAB7A(7879), NEFL(4747), CCT5(22948), GDAP1(54332)]
NORMAL PRESSURE HYDROCEPHALUS(HP:0002343)	[ERCC8(1161), ERCC6(2074)]
NORMAL TO TALL STATURE(HP:0003516)	[PLOD1(5351), CBS(875)]
NORMOCHROMIC ANEMIA(HP:0001895)	[LCAT(3931), BPGM(669), HK1(3098), TPI1(7167), G6PD(2539), ALDOA(226), DNAJC19(131118)]
NORMOCHROMIC MICROCYTIC ANEMIA(HP:0004856)	[DNAJC19(131118)]
NORMOCYTIC ANEMIA(HP:0001897)	[BPGM(669), HK1(3098), TPI1(7167), G6PD(2539), ALDOA(226)]
NORMOCYTIC HYPOPLASTIC ANEMIA(HP:0004819)	[MVK(4598)]
NOTCHED NASAL ALAE(HP:0003191)	[PORCN(64840)]
NUCHAL SKIN FOLDS(HP:0000477)	[OFD1(8481)]
NUMEROUS NEVI(HP:0001054)	[CDK4(1019), PIK3CA(5290), FGFR3(2261)]
NUMEROUS PIGMENTED FRECKLES(HP:0007587)	[ERCC4(2072)]
NYSTAGMUS(HP:0000639)	[CLDN19(149461), FKRP(79147), DCX(1641), TINF2(26277), MMADHC(27249), BBS5(129880), ATXN8(724066), SACS(26278), SETX(23064), NSD1(64324), GAN(8139), ANCR(282), HPS5(11234), GJC2(57165), HSD17B4(3295), EDNRB(1910), SLC16A2(6567), GLI3(2737), ATXN8OS(6315), CDKL5(6792), GUCY2D(3000), NPHP1(4867), COX15(1355), COQ2(27235), ATXN1(6310), ATXN2(6311), BBS9(27241), LYST(1130), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), LRP5(4041), B3GALTL(145173), NUP62(23636), SURF1(6834), C10orf2(56652), ACOX1(51), CACNA1A(773), AP3B1(8546), C20orf7(79133), GJA1(2697), MPV17(4358), SLC17A5(26503), SIL1(64374), CNNM4(26504), NAGA(4668), CACNA1F(778), MAN2B1(4125), NDUFS7(374291), NPHP4(261734), MKKS(8195), PDHA1(5160), LMNB1(4001), OCA2(4948), GPR56(9289), CNGB3(54714), SDHA(6389), BCS1L(617), MECP2(4204), POLG(5428), BBS12(166379), PDP1(54704), FGF14(2259), PDSS2(57107), KCNC3(3748), PHF6(84295), GPR143(4935), ATXN10(25814), NDUFA1(4694), NDUFA2(4695), PDSS1(23590), UBE3A(7337), PEX26(55670), TTC8(123016), DTNBP1(84062), C8orf38(137682), OPA1(4976), ABHD5(51099), GNAS(2778), POMGNT1(55624), BBS1(582), OPHN1(4983), BBS2(583), TBP(6908), HPS3(84343), ATCAY(85300), BBS4(585), PORCN(64840), NDUFA11(126328), PEX3(8504), NDUFAF4(29078), HPS1(3257), NDUFS1(4719), NIPBL(25836), SIX6(4990), EBP(10682), NDUFS3(4722), NDUFV1(4723), BBS10(79738), NDUFS2(4720), TYR(7299), CLDN16(10686), NDUFS6(4726), BBS7(55212), TTBK2(146057), NDUFS4(4724), ALMS1(7840), NDUFS8(4728), TYRP1(7306), PRSS12(8492), HSD17B10(3028), PEX19(5824), LARGE(9215), PEX5(5830), TRIM32(22954), ZIC4(84107), ARL6(84100), SPG7(6687), ERCC6(2074), PLP1(5354), NDUFAF2(91942), BRAF(673), SPAST(6683), MAP2K1(5604), MAP2K2(5605), SOX10(6663), BUB1B(701), TTR(7276), ATXN3(4287), BLOC1S3(388552), ZIC1(7545), MITF(4286), TREX1(11277), PMM2(5373), NEU1(4758), TCIRG1(10312), ASPA(443), NDUFAF3(25915), SPG11(80208), DLAT(1737), DLD(1738), L2HGDH(79944), SPTBN2(6712), FOXL2(668), MKS1(54903), PRKCG(5582), HPS6(79803), CTDP1(9150), NHS(4810), WHCR(7467), WFS1(7466), PAX6(5080), ATP1A2(477), WHSC1(7468), ERCC8(1161), MVK(4598), HSPD1(3329), CEP290(80184), DGUOK(1716), DHCR7(1717), AHI1(54806), BEAN(146227), FXN(2395), PHGDH(26227), COQ9(57017), FRMD7(90167), BEST1(7439), SOST(50964), KRAS(3845), MMACHC(25974), TFAP2A(7020), EFNB1(1947), GBA(2629), HPS4(89781), APTX(54840), CABC1(56997)]
NYSTAGMUS, HORIZONTAL(HP:0000666)	[OPA1(4976), FRMD7(90167), GBA(2629), LARGE(9215), BEAN(146227), CNGB3(54714), LRP5(4041)]
OBESITY(HP:0001513)	[MKKS(8195), SNRPN(6638), ATRX(546), EHMT1(79813), BBS5(129880), TRIM32(22954), ARL6(84100), TBX3(6926), ANCR(282), INPP5E(56623), CEP290(80184), MECP2(4204), BBS12(166379), PDE11A(50940), CUL4B(8450), SLC7A7(9056), NDN(4692), DGCR(1714), CDKL5(6792), UBE3A(7337), BBS9(27241), TTC8(123016), CANT1(124583), GNAS(2778), NR0B2(8431), PPARG(5468), VPS13B(157680), MC4R(4160), PCNT(5116), BBS1(582), BBS2(583), TBX1(6899), BBS4(585), PCSK1(5122), VSX1(30813), BBS10(79738), MKS1(54903), PRKAR1A(5573), BBS7(55212), ALMS1(7840), FST(10468), SIM1(6492), RAB23(51715)]
OBLITERATED FONTANELLES(HP:0005458)	[CTSD(1509)]
OBSESSIVE-COMPULSIVE DISORDER(HP:0000722)	[MED12(9968), DMPK(1760), PANK2(80025), EHMT1(79813), SLITRK1(114798), SGCE(8910), DRD2(1813)]
OBSESSIVE-COMPULSIVE TRAIT(HP:0008770)	[DMPK(1760), PANK2(80025)]
OBSTRUCTIVE LUNG DISEASE(HP:0006536)	[SERPINA1(5265), GLA(2717)]
OBSTRUCTIVE SLEEP APNEA(HP:0002870)	[TRPV4(59341), IDS(3423), FBN1(2200), GJA1(2697), HRAS(3265)]
OCCASIONAL BRACHYCEPHALY(HP:0004479)	[RMRP(6023)]
OCCASIONAL CAFE-AU-LAIT SPOTS(HP:0005601)	[NF2(4771)]
OCCASIONAL CLOVER-LEAF SKULL(HP:0004477)	[FGFR1(2260), FGFR2(2263)]
OCCASIONAL CRANIOSYNOSTOSIS(HP:0005467)	[STAT3(6774)]
OCCASIONAL EARLY 'ONION' BULB FORMATIONS(HP:0007084)	[GDAP1(54332)]
OCCASIONAL FEMORAL BOWING(HP:0004998)	[COL1A2(1278), COL1A1(1277)]
OCCASIONAL HYPOMAGNESEMIA(HP:0003284)	[SLC12A1(6557), KCNJ1(3758)]
OCCASIONAL NEUROFIBROMAS(HP:0009595)	[NF2(4771)]
OCCASIONAL ONION BULB FORMATIONS(HP:0007013)	[GDAP1(54332)]
OCCIPITAL ENCEPHALOCELE(HP:0002085)	[COL18A1(80781), MKS1(54903), FKRP(79147), FKTN(2218), HOXD13(3239), LARGE(9215), RPGRIP1L(23322), POMT1(10585), POMT2(29954)]
OCCIPITAL MENINGOCELE(HP:0002436)	[INPP5E(56623), WNT7A(7476)]
OCCIPITAL MYELOMENINGOCELE(HP:0007271)	[INPP5E(56623)]
OCCIPITAL PLAGIOCEPHALY(HP:0005469)	[PEX19(5824), DYNC2H1(79659), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), ANCR(282), PEX3(8504), MECP2(4204), DPM1(8813), CDKL5(6792), UBE3A(7337), MAN2B1(4125), PEX26(55670)]
OCULAR ALBINISM(HP:0001107)	[BLOC1S3(388552), AP3B1(8546), HPS3(84343), HPS4(89781), HPS5(11234), HPS1(3257), HPS6(79803), DTNBP1(84062)]
OCULAR ALBINISM, TYROSINASE-POSITIVE(HP:0007745)	[AP3B1(8546)]
OCULAR COLOBOMA(HP:0007995)	[SEMA3E(9723), PQBP1(10084), CHD7(55636)]
OCULAR PAIN(HP:0200026)	[SCN9A(6335)]
OCULOMOTOR ABNORMALITIES(HP:0006860)	[ATM(472)]
OCULOMOTOR APRAXIA(HP:0000657)	[TMEM216(51259), DLAT(1737), SETX(23064), INPP5E(56623), KRAS(3845), CEP290(80184), BRAF(673), MAP2K1(5604), MAP2K2(5605), NPHP1(4867), TMEM67(91147), GBA(2629), AHI1(54806), APTX(54840), ATXN2(6311)]
OLFACTORY LOBE AGENESIS(HP:0001341)	[PEX19(5824), MKS1(54903), PEX10(5192), KAL1(3730), PEX14(5195), PEX5(5830), PEX13(5194), PEX1(5189), PEX3(8504), PEX26(55670)]
OLIGODACTYLY (FEET)(HP:0001849)	[PORCN(64840), WNT7A(7476)]
OLIGODACTYLY (HANDS)(HP:0001180)	[ESCO2(157570), SHFM1(7979), PORCN(64840), WNT7A(7476), NIPBL(25836)]
OLIGODONTIA(HP:0000677)	[EDA(1896), SH3BP2(6452), BCOR(54880), CLDN1(9076), KCNJ2(3759), CCBE1(147372), TP63(8626), PORCN(64840)]
OLIGOHYDRAMNIOS(HP:0001562)	[RET(5979), UPK3A(7380), EFEMP2(30008), PKHD1(5314), LOX(4015), INVS(27130), MKS1(54903), BUB1B(701), FAM123B(139285), FBLN5(10516), POR(5447), NPHP3(27031), CPT2(1376)]
OLIGOMENORRHEA(HP:0000876)	[PPP1R3A(5506), SNRPN(6638), PPARG(5468), NDN(4692), AIP(9049), FST(10468)]
OLIGOSPERMIA(HP:0000798)	[CNBP(7555), F13A1(2162), AR(367)]
OLIVOPONTOCEREBELLAR ATROPHY(HP:0002542)	[ATXN7(6314), PMM2(5373), ERCC6(2074), ATXN1(6310), ATXN2(6311)]
OLIVOPONTOCEREBELLAR HYPOPLASIA(HP:0006955)	[PMM2(5373)]
OMPHALOCELE(HP:0001539)	[CD96(10225), AFP(174), LRP2(4036), TSHB(7252), FGFR1(2260), NSD1(64324), PORCN(64840), HYLS1(219844), CDKN1C(1028), SEMA3E(9723), H19(283120), FLNA(2316), LBR(3930), MKS1(54903), KCNQ1OT1(10984), FAM123B(139285), RAB23(51715), CHD7(55636)]
ONCOCYTIC CARDIOMYOPATHY(HP:0005152)	[HCCS(3052)]
ONSET 3 MONTHS OF AGE UP TO 5 YEARS(HP:0003617)	[SCN9A(6335), SH3BP2(6452), SCN1A(6323), GPR98(84059)]
ONSET AND CLINICAL COURSE(HP:0000004)	[FKRP(79147), CHAT(1103), MMADHC(27249), VPS33B(26276), TRIM24(8805), SACS(26278), HSD17B4(3295), SLC16A2(6567), TRPM6(140803), HRAS(3265), ABCB7(22), COQ2(27235), DOLK(22845), UBR1(197131), GNPTAB(79158), CHRNA1(1134), FECH(2235), ACADS(35), ACADL(33), HSPB1(3315), ACADSB(36), ACADVL(37), NEUROG3(50674), SLC6A8(6535), ACOX1(51), FKTN(2218), C20orf7(79133), MPZ(4359), SLC12A3(6559), CHRNE(1145), CHRND(1144), ACTA1(58), CHRNB1(1140), TNFRSF11A(8792), CHRNA4(1137), FH(2271), FGFR3(2261), FGFR2(2263), KCTD7(154881), POLG(5428), POLH(5429), CDKN2A(1029), FGF14(2259), SOS1(6654), CEBPA(1050), HSPB8(26353), ACY1(95), ACVR1(90), C8orf38(137682), SMN1(6606), CNBP(7555), ADAR(103), ADA(100), NDUFA11(126328), TRPV4(59341), WNK1(65125), SNCA(6622), CTSC(1075), PMP22(5376), SMPD1(6609), PRNP(5621), ERCC2(2068), TRIM32(22954), CCT5(22948), SGCB(6443), PRPS1(5631), SGCA(6442), ERCC6(2074), PRODH(5625), KIAA0196(9897), SGCG(6445), HMGCL(3155), TRIM33(51592), MAP2K1(5604), MAP2K2(5605), MTHFR(4524), SH3BP2(6452), MAPK10(5602), FAM126A(84668), CLN8(2055), SH3GL1(6455), MFSD8(256471), SPG11(80208), SGCE(8910), SOX18(54345), MTMR2(8898), FGD4(121512), ETFDH(2110), WT1(7490), VMA21(203547), ETFB(2109), ETFA(2108), PRKAR1A(5573), NR0B1(190), AGXT(189), PRKCG(5582), HNF4A(3172), XPC(7508), MSR1(4481), XPA(7507), EXT2(2132), SQSTM1(8878), EXT1(2131), MUSK(4593), EYA1(2138), EIF2B2(8892), EIF2B5(8893), PPT1(5538), SLC2A1(6513), NCF1(653361), EIF2B4(8890), EIF2B3(8891), BEAN(146227), HEXA(3073), GDAP1(54332), CFH(3075), CLCN1(1180), AKT2(208), ETV6(2120), PCDH15(65217), SMARCAL1(50485), CLCN7(1186), PPP2R2B(5521), SHH(6469), FRMD7(90167), CLCN5(1184), MFN2(9927), CLCNKB(1188), TSEN54(283989), GMPS(8833), ALDH3A2(224), VHL(7428), ALPL(249), VRK1(7443), MNX1(3110), GOLGA5(9950), AMT(275), SCN5A(6331), VCP(7415), BIN1(274), PGK1(5230), SCN4A(6329), SCN9A(6335), NAGS(162417), SCN1A(6323), NSD1(64324), MAPT(4137), VDR(7421), RNF139(11236), CP(1356), SLC7A7(9056), COX15(1355), GNE(10020), HCN4(10021), ATXN1(6310), UQCRB(7381), TMEM216(51259), UROS(7390), DCAF17(80067), C10orf2(56652), SCO2(9997), PFKM(5213), SLC25A4(291), SLC17A5(26503), ATP8B1(5205), SLC12A6(9990), CPT2(1376), UMOD(7369), TRAPPC2(6399), PDHA1(5160), COMP(1311), SDHD(6392), COL17A1(1308), SDHC(6391), SDHB(6390), INPP5E(56623), SDHA(6389), COL9A1(1297), COL8A2(1296), MECP2(4204), APOE(348), TSFM(10102), PDP1(54704), AMACR(23600), AIRE(326), COL6A1(1291), MEFV(4210), COL7A1(1294), IGF1(3479), COL6A2(1292), COL6A3(1293), COL4A1(1282), PDSS1(23590), IGF1R(3480), BSCL2(26580), LMNB2(84823), POMGNT1(55624), CHST6(4166), SLC39A4(55630), SPG21(51324), PCSK1(5122), AQP2(359), PANK2(80025), GAA(2548), AR(367), KLF6(1316), LDB3(11155), SLC25A15(10166), ARSA(410), LGI1(9211), DIRC2(84925), TWIST1(7291), LARGE(9215), FLNC(2318), PLP1(5354), GRHL2(79977), CTNS(1497), FLNB(2317), FLT3(2322), TTR(7276), ATXN3(4287), TTN(7273), FLT4(2324), ATP6AP2(10159), FMR1(2332), LRPPRC(10128), OSMR(9180), TRIOBP(11078), PKHD1(5314), TSHR(7253), ASL(435), CYBA(1535), TSC1(7248), TSC2(7249), CFI(3426), L2HGDH(79944), CTSD(1509), AMLCR2(9163), KITLG(4254), CRELD1(78987), SLC6A5(9152), PLG(5340), PLEC(5339), CTDP1(9150), ATP1A3(478), HSPG2(3339), RYR1(6261), ATP1A2(477), HSPD1(3329), LMBRD1(55788), CRYAB(1410), PKD2(5311), FXN(2395), PITX2(5308), MMAB(326625), PHEX(5251), PHKA1(5255), MLF1(4291), ANTXR2(118429), MMP2(4313), ATP2A2(488), TPM3(7170), TH(7054), PLCE1(51196), SH3TC2(79628), DDB2(1643), DCX(1641), AUH(549), ATRX(546), GLUD1(2746), MMAA(166785), DDC(1644), GLRB(2743), GAN(8139), GLRA1(2741), AVPR2(554), DCTN1(1639), TGFB1(7040), MCCC1(56922), GLI3(2737), RDX(5962), PRPH2(5961), GLE1(2733), NPM1(4869), LRRK2(120892), GLDC(2731), KIT(3815), NPC1(4864), GLB1(2720), SBF2(81846), TK2(7084), COLQ(8292), GLA(2717), RHO(6010), NKX2-1(7080), KIF5A(3798), NTRK1(4914), CRTAP(10491), DYSF(8291), PICALM(8301), GJB1(2705), GJB3(2707), KCNMA1(3778), GIF(2694), ATP7A(538), NDUFS7(374291), FBXO7(25793), ARHGEF12(23365), RAPSN(5913), NDRG1(10397), GDF5(8200), BCS1L(617), FGF23(8074), AAAS(8086), KCNC3(3748), ATXN10(25814), TUBB3(10381), RAG2(5897), TNFRSF1A(7132), RAG1(5896), GPR98(84059), CYP11B2(1585), CYP11B1(1584), OPA1(4976), GNAS(2778), JUP(3728), OPHN1(4983), CYLD(1540), TNNT1(7138), NDUFAF4(29078), KCNA1(3736), CYBB(1536), ATP13A2(23400), NIPBL(25836), PABPN1(8106), SDHAF2(54949), JAK2(3717), SNAP29(9342), DOK7(285489), OGDH(4967), OGG1(4968), TP53(7157), SDHAF1(644096), AMN(81693), PLA2G6(8398), SLC25A22(79751), ATL1(51062), TMPRSS3(64699), ITPR1(3708), HNF1A(6927), CC2D1A(54862), BRCA2(675), BRAF(673), OTC(5009), GARS(2617), ITGB4(3691), BUB1B(701), CCDC6(8030), NCOA4(8031), HNF1B(6928), MLLT10(8028), ALS2(57679), TREX1(11277), CUBN(8029), GAMT(2593), KL(9365), DNM2(1785), NUP214(8021), DIAPH1(1729), GALC(2581), DLAT(1737), DKC1(1736), GALNS(2588), PARK7(11315), GALNT3(2591), DLD(1738), PSAT1(29968), BFSP2(8419), PRX(57716), GABRG2(2566), DOCK8(81704), C20orf54(113278), PDHX(8050), MRPS16(51021), PDX1(3651), DMD(1756), ISCU(23479), WHSC1L1(54904), GAD1(2571), ITGA6(3655), ZFYVE26(23503), FLCN(201163), FZD4(8322), CYP7B1(9420), PAX4(5078), RNASEL(6041), GPHN(10243), PARK2(5071), FAM20C(56975), TEAD1(7003), GFAP(2670), PAK3(5063), TECTA(7007), ITM2B(9445), COQ9(57017), ALG1(56052), IMPDH1(3614), GCK(2645), SOST(50964), TIMM8A(1678), GCSH(2653), PCM1(5108), EIF2AK3(9451), DES(1674), MAD1L1(8379), DFNA5(1687), GBA(2629), GJB4(127534), GBE1(2632), APTX(54840), PC(5091), CABC1(56997), MYOT(9499), TACSTD2(4070), SLURP1(57152), SALL4(57167), SETX(23064), GJC2(57165), MYF6(4618), IKBKAP(8518), PDE11A(50940), MYH7(4625), MYH9(4627), PTCH1(5727), RAB7A(7879), MYO7A(4647), NIPA1(123606), MYO5B(4645), YARS(8565), MYO5A(4644), SEPN1(57190), KIF1B(23095), LRP5(4041), PTEN(5728), MCOLN1(57192), SURF1(6834), MYLK2(85366), ABCC8(6833), CACNA1C(775), CACNA1A(773), AP3B1(8546), LITAF(9516), ALDH5A1(7915), NAGA(4668), NAGLU(4669), SUOX(6821), TCAP(8557), CACNA1S(779), LMNB1(4001), LMNA(4000), NPHS2(7827), KRIT1(889), LOR(4014), CYP2R1(120227), PSAP(5660), HTT(3064), NCF2(4688), PDSS2(57107), SPG20(23111), SERPINA6(866), PSEN1(5663), DSP(1832), BSND(7809), NDUFA1(4694), NDUFA2(4695), NLGN4X(57502), HCRT(3060), LPP(4026), NEB(4703), ATN1(1822), ANKH(56172), LHCGR(3973), TBP(6908), CAV3(859), ATCAY(85300), DRD2(1813), NDUFS1(4719), TAZ(6901), RUNX1(861), PSEN2(5664), NDUFS3(4722), NDUFV1(4723), DLL3(10683), LIPA(3988), PCDH19(57526), NDUFS2(4720), HADHB(3032), OFD1(8481), HADH(3033), NDUFS6(4726), CLDN16(10686), NDUFS4(4724), AGRN(375790), CASP10(843), CXCR4(7852), NDUFS8(4728), HADHA(3030), HSD17B10(3028), ABCD3(5825), PEX2(5828), NEFL(4747), SPG7(6687), SLC34A2(10568), NDUFAF2(91942), SPAST(6683), NPC2(10577), UQCRQ(27089), NSDHL(50814), SLC35D1(23169), ENO3(2027), ABCB11(8647), ANO5(203859), POMT1(10585), LAMB3(3914), PLEKHG5(57449), CD8A(925), LAMB2(3913), NDUFAF3(25915), LAMC2(3918), VPS13A(23230), EMD(2010), AKR1D1(6718), SRD5A2(6716), D2HGDH(728294), IQCB1(9657), NF2(4771), SPTBN2(6712), LAMA2(3908), LAMA3(3909), LBR(3930), RAB27A(5873), MLC1(23209), ARHGEF10(9639), GFM1(85476), SPINK1(6690), JPH3(57338), LAMP2(3920), NGF(4803), KRT17(3872), PINK1(65018), EGR2(1959), NME1(4830), GSN(2934), EIF2B1(1967), CHMP2B(25978), KRT5(3852), STAT3(6774), KRT3(3850), NLRP3(114548), KRAS(3845), MMACHC(25974), GRN(2896), PDE8B(8622), SLC34A3(142680), KRT14(3861), PNKD(25953), SLC35A1(10559), KRT12(3859), NOTCH3(4854)]
ONSET AT BIRTH(HP:0003577)	[FKRP(79147), CHAT(1103), HSPD1(3329), MECP2(4204), BRAF(673), SLC16A2(6567), MAP2K1(5604), PSAP(5660), MAP2K2(5605), EGR2(1959), IKBKAP(8518), COL7A1(1294), TTN(7273), FLT4(2324), HCN4(10021), MYO7A(4647), BSCL2(26580), ACADS(35), CD8A(925), POMGNT1(55624), NKX2-1(7080), KRAS(3845), UROS(7390), TSEN54(283989), LAMA2(3908), ALDH3A2(224), CTSD(1509), SCO2(9997), MPZ(4359), GFM1(85476), AP3B1(8546), KITLG(4254), ACTA1(58), VRK1(7443), PDHX(8050), MRPS16(51021), PC(5091)]
ONSET AT BIRTH OR EARLY CHILDHOOD(HP:0003595)	[CTSD(1509), ACADS(35), CHAT(1103), PDHX(8050)]
ONSET AT BIRTH OR EARLY INFANCY(HP:0003666)	[BSCL2(26580), LAMA2(3908)]
ONSET BEFORE ADOLESCENCE(HP:0003659)	[FBXO7(25793), KRT17(3872), FXN(2395)]
ONSET BEFORE AGE 2 YEARS(HP:0003667)	[ARHGEF12(23365), COMP(1311), LMNA(4000), NSD1(64324), MAPT(4137), FLT3(2322), CP(1356), NPM1(4869), CEBPA(1050), KIT(3815), PARK2(5071), MLLT10(8028), SH3GL1(6455), GDAP1(54332), ETV6(2120), LPP(4026), NUP214(8021), TK2(7084), SMN1(6606), FECH(2235), NIPA1(123606), ACADVL(37), PICALM(8301), PARK7(11315), FGD4(121512), RUNX1(861), GMPS(8833), MLF1(4291), JAK2(3717), AMLCR2(9163), TCAP(8557), DMD(1756), WHSC1L1(54904)]
ONSET BEFORE AGE 40 YEARS(HP:0003598)	[PARK2(5071), PARK7(11315)]
ONSET BETWEEN 1-3 YEARS(HP:0003625)	[GALNS(2588), GLB1(2720)]
ONSET BY 3 YEARS OF AGE(HP:0003586)	[NLGN4X(57502)]
ONSET IN ADOLESCENCE(HP:0003590)	[ARSA(410), FBXO7(25793), MYOT(9499), KRT5(3852), LHCGR(3973), SETX(23064), KRT17(3872), SPTBN2(6712), BFSP2(8419), CTNS(1497), NDUFV1(4723), ALS2(57679), GFAP(2670)]
ONSET IN ADULTHOOD(HP:0003581)	[PRNP(5621), ARSA(410), MYOT(9499), AUH(549), LMNB1(4001), SDHD(6392), SDHC(6391), SDHB(6390), PRPS1(5631), KIAA0196(9897), FLNC(2318), POLG(5428), DCTN1(1639), EIF2B2(8892), EIF2B5(8893), CRYAB(1410), PPT1(5538), PRPH2(5961), TTR(7276), EIF2B4(8890), TTN(7273), EIF2B3(8891), BEAN(146227), EIF2B1(1967), ENO3(2027), GNE(10020), GALC(2581), SPG11(80208), HSPB1(3315), PHKA1(5255), EMD(2010), CYLD(1540), TSC1(7248), MMACHC(25974), PABPN1(8106), BFSP2(8419), C10orf2(56652), SDHAF2(54949), PFKM(5213), OFD1(8481), SLC25A4(291), ARHGEF10(9639), GBA(2629), APTX(54840), NAGA(4668), NOTCH3(4854)]
ONSET IN CHILDHOOD(HP:0003578)	[TH(7054), PLCE1(51196), SCN4A(6329), SCN9A(6335), TACSTD2(4070), SACS(26278), SCN1A(6323), GAN(8139), TGFB1(7040), PDE11A(50940), COX15(1355), MYH7(4625), ABCB7(22), MYH9(4627), COQ2(27235), GLB1(2720), SBF2(81846), COLQ(8292), CHRNA1(1134), MYO7A(4647), GLA(2717), RHO(6010), MYO5A(4644), NKX2-1(7080), LRP5(4041), SURF1(6834), CACNA1A(773), KCNMA1(3778), MPZ(4359), SLC12A3(6559), CHRNE(1145), LITAF(9516), CHRND(1144), ALDH5A1(7915), NAGLU(4669), GIF(2694), CHRNB1(1140), CHRNA4(1137), ATP7A(538), NDUFS7(374291), FBXO7(25793), PDHA1(5160), LMNA(4000), NPHS2(7827), COL17A1(1308), RAPSN(5913), NDRG1(10397), SDHA(6389), COL9A1(1297), BCS1L(617), FGF23(8074), AIRE(326), NCF2(4688), AAAS(8086), PDSS2(57107), COL6A1(1291), SPG20(23111), MEFV(4210), COL6A2(1292), RAG2(5897), NDUFA2(4695), COL6A3(1293), RAG1(5896), NLGN4X(57502), PDSS1(23590), GPR98(84059), C8orf38(137682), OPA1(4976), ADAR(103), LMNB2(84823), GNAS(2778), CHST6(4166), CAV3(859), DRD2(1813), KCNA1(3736), CYBB(1536), NDUFS3(4722), WNK1(65125), NDUFV1(4723), CLDN16(10686), DOK7(285489), NDUFS4(4724), AGRN(375790), CASP10(843), CXCR4(7852), NDUFS8(4728), AR(367), PMP22(5376), SMPD1(6609), TMPRSS3(64699), ITPR1(3708), NEFL(4747), CCT5(22948), SGCB(6443), SGCA(6442), CC2D1A(54862), PLP1(5354), ITGB4(3691), SH3BP2(6452), TTN(7273), TREX1(11277), ALS2(57679), KL(9365), DNM2(1785), POMT1(10585), DIAPH1(1729), LAMB3(3914), PLEKHG5(57449), MFSD8(256471), LAMC2(3918), SPG11(80208), SGCE(8910), EMD(2010), GALNS(2588), GALNT3(2591), DLD(1738), CYBA(1535), TSC1(7248), VMA21(203547), CFI(3426), L2HGDH(79944), PRX(57716), LAMA3(3909), RAB27A(5873), PRKAR1A(5573), C20orf54(113278), PLG(5340), ISCU(23479), ATP1A3(478), EXT2(2132), EXT1(2131), FZD4(8322), KRT17(3872), MUSK(4593), EGR2(1959), NCF1(653361), GDAP1(54332), CFH(3075), CLCN1(1180), GFAP(2670), FXN(2395), TECTA(7007), CLCN7(1186), KRT5(3852), COQ9(57017), NLRP3(114548), TIMM8A(1678), MMP2(4313), GBA(2629), SLC34A3(142680), APTX(54840), TPM3(7170), PNKD(25953), CABC1(56997)]
ONSET IN CHILDHOOD OR ADOLESCENCE(HP:0003661)	[MEFV(4210), APTX(54840), CLCN1(1180)]
ONSET IN CHILDHOOD OR EARLY ADOLESCENCE(HP:0003604)	[GLA(2717), CACNA1A(773), SCN9A(6335), SGCE(8910), DRD2(1813)]
ONSET IN CHILDHOOD OR EARLY ADULTHOOD(HP:0003663)	[PDE11A(50940), PRKAR1A(5573), MYH7(4625)]
ONSET IN EARLY ADULTHOOD(HP:0003627)	[CYLD(1540), GNE(10020), DCTN1(1639)]
ONSET IN EARLY CHILDHOOD(HP:0003580)	[OPA1(4976), PLEKHG5(57449), EXT2(2132), MFSD8(256471), NPHS2(7827), EXT1(2131), CCT5(22948), CC2D1A(54862), VMA21(203547), AAAS(8086), COL6A1(1291), SPG20(23111), CLDN16(10686), MPZ(4359), MMP2(4313), COL6A2(1292), ABCB7(22), TREX1(11277), ALS2(57679), COL6A3(1293), GDAP1(54332), NAGLU(4669), PMP22(5376)]
ONSET IN EARLY INFANCY(HP:0003591)	[ACADS(35), CHAT(1103), DDC(1644), SLURP1(57152), NEUROG3(50674), AVPR2(554), SLC6A8(6535), LAMA3(3909), CTSD(1509), SNAP29(9342), AQP2(359), MMP2(4313), ATP8B1(5205), PDHX(8050), ABCB11(8647)]
ONSET IN FIRST DECADE(HP:0003582)	[SBF2(81846), MYO7A(4647), LMNB2(84823), RHO(6010), CHST6(4166), NDRG1(10397), CAV3(859), GALNT3(2591), CYBA(1535), CYBB(1536), FGF23(8074), NCF2(4688), EGR2(1959), MPZ(4359), DOK7(285489), NCF1(653361), KL(9365), AGRN(375790), PMP22(5376), DNM2(1785), ATP7A(538)]
ONSET IN FIRST MONTHS OF LIFE(HP:0003594)	[SNAP29(9342), SLC6A8(6535)]
ONSET IN FIRST OR SECOND DECADE(HP:0003589)	[SBF2(81846), LMNB2(84823), EGR2(1959), MPZ(4359), PMP22(5376), DNM2(1785)]
ONSET IN FIRST WEEKS OF LIFE(HP:0003622)	[AQP2(359), NEUROG3(50674), AVPR2(554)]
ONSET IN FIRST YEAR OF LIFE(HP:0003599)	[GABRG2(2566), LARGE(9215), SCN1A(6323), VDR(7421), MCOLN1(57192)]
ONSET IN INFANCY(HP:0003576)	[AMT(275), TH(7054), PLCE1(51196), SCN4A(6329), CHAT(1103), DCX(1641), AUH(549), MMADHC(27249), SCN9A(6335), MMAA(166785), VPS33B(26276), DDC(1644), SLURP1(57152), SACS(26278), SCN1A(6323), GLRB(2743), NSD1(64324), VDR(7421), MAPT(4137), GJC2(57165), GLRA1(2741), HSD17B4(3295), AVPR2(554), TRPM6(140803), RDX(5962), CP(1356), SLC7A7(9056), NPM1(4869), GLDC(2731), KIT(3815), COX15(1355), MYH7(4625), DOLK(22845), GLB1(2720), COLQ(8292), TK2(7084), CHRNA1(1134), FECH(2235), NIPA1(123606), ACADS(35), MYO5B(4645), MYO5A(4644), SEPN1(57190), ACADL(33), NTRK1(4914), ACADSB(36), CRTAP(10491), ACADVL(37), PICALM(8301), NEUROG3(50674), LRP5(4041), SLC6A8(6535), SURF1(6834), MCOLN1(57192), GJB3(2707), ACOX1(51), SCO2(9997), FKTN(2218), MPZ(4359), CHRNE(1145), CHRND(1144), ATP8B1(5205), ALDH5A1(7915), NAGA(4668), TCAP(8557), CHRNB1(1140), SUOX(6821), CPT2(1376), NDUFS7(374291), ARHGEF12(23365), PDHA1(5160), COMP(1311), LMNA(4000), RAPSN(5913), GDF5(8200), SDHA(6389), BCS1L(617), LOR(4014), POLG(5428), PDP1(54704), CYP2R1(120227), PSAP(5660), COL6A1(1291), CEBPA(1050), COL6A2(1292), RAG2(5897), COL6A3(1293), NDUFA2(4695), RAG1(5896), LPP(4026), NEB(4703), C8orf38(137682), SMN1(6606), ADAR(103), GNAS(2778), SLC39A4(55630), OPHN1(4983), TNNT1(7138), TAZ(6901), RUNX1(861), NDUFS3(4722), WNK1(65125), JAK2(3717), DLL3(10683), NDUFV1(4723), LIPA(3988), AQP2(359), SNAP29(9342), NDUFS4(4724), CASP10(843), CXCR4(7852), NDUFS8(4728), PMP22(5376), HSD17B10(3028), SMPD1(6609), PLA2G6(8398), LARGE(9215), NEFL(4747), CCT5(22948), PRPS1(5631), PLP1(5354), ITGB4(3691), FLT3(2322), MLLT10(8028), FAM126A(84668), ALS2(57679), SH3GL1(6455), ATP6AP2(10159), ABCB11(8647), POMT1(10585), NUP214(8021), LAMB3(3914), LRPPRC(10128), LAMC2(3918), TRIOBP(11078), DLAT(1737), TSHR(7253), PARK7(11315), D2HGDH(728294), DLD(1738), FGD4(121512), IQCB1(9657), PSAT1(29968), TSC1(7248), L2HGDH(79944), PRX(57716), LAMA3(3909), CTSD(1509), GABRG2(2566), RAB27A(5873), AMLCR2(9163), MLC1(23209), DOCK8(81704), SLC6A5(9152), PLG(5340), PDHX(8050), DMD(1756), WHSC1L1(54904), PLEC(5339), GAD1(2571), ITGA6(3655), CTDP1(9150), RYR1(6261), FZD4(8322), NGF(4803), LMBRD1(55788), MUSK(4593), GPHN(10243), EGR2(1959), PARK2(5071), SLC2A1(6513), HEXA(3073), GDAP1(54332), CFH(3075), GFAP(2670), ETV6(2120), PCDH15(65217), FRMD7(90167), ALG1(56052), STAT3(6774), NLRP3(114548), TSEN54(283989), GCSH(2653), GMPS(8833), MLF1(4291), MMP2(4313), ANTXR2(118429), GJB4(127534), SLC34A3(142680), ALPL(249), PNKD(25953), SLC35A1(10559)]
ONSET IN INFANCY OR CHILDHOOD(HP:0003583)	[TH(7054), PLCE1(51196), NDUFS7(374291), SCN4A(6329), PDHA1(5160), SACS(26278), NEFL(4747), CCT5(22948), FZD4(8322), SDHA(6389), BCS1L(617), EGR2(1959), COX15(1355), MYH7(4625), RAG2(5897), NDUFA2(4695), RAG1(5896), CFH(3075), POMT1(10585), C8orf38(137682), CHRNA1(1134), ADAR(103), GNAS(2778), MYO5A(4644), NLRP3(114548), LRP5(4041), DLD(1738), TSC1(7248), SURF1(6834), L2HGDH(79944), PRX(57716), NDUFS3(4722), WNK1(65125), NDUFV1(4723), RAB27A(5873), MPZ(4359), NDUFS4(4724), CHRNE(1145), SLC34A3(142680), CHRND(1144), CASP10(843), PLG(5340), ALDH5A1(7915), CXCR4(7852), NDUFS8(4728), PMP22(5376), PNKD(25953), SMPD1(6609)]
ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579)	[TH(7054), SCN4A(6329), PDHA1(5160), SACS(26278), CCT5(22948), FZD4(8322), EGR2(1959), RAG2(5897), RAG1(5896), POMT1(10585), CHRNA1(1134), ADAR(103), MYO5A(4644), NLRP3(114548), LRP5(4041), L2HGDH(79944), PRX(57716), WNK1(65125), RAB27A(5873), MPZ(4359), CHRNE(1145), CHRND(1144), SLC34A3(142680), ALDH5A1(7915), CXCR4(7852), PMP22(5376)]
ONSET IN NEONATAL PERIOD(HP:0003623)	[KRT5(3852), LAMB2(3913), MMAB(326625), SCN9A(6335), NAGS(162417), AKR1D1(6718), ASL(435), AMACR(23600), OTC(5009), GDAP1(54332), KRT14(3861), CYP11B2(1585), CYP11B1(1584)]
ONSET IN SECOND AND THIRD DECADES(HP:0003602)	[SPG21(51324)]
ONSET IN SECOND DECADE(HP:0003588)	[MFN2(9927), LMNA(4000), KIF1B(23095)]
ONSET IN THIRD DECADE(HP:0003585)	[OSMR(9180), GSN(2934), MAPT(4137)]
ONSET IN THIRD OR FOURTH DECADE(HP:0003669)	[ATXN1(6310)]
ONSET IN UTERO(HP:0003660)	[SCN5A(6331), LAMB3(3914), ITGB4(3691), LAMC2(3918), BSND(7809), IGF1(3479), CLCNKB(1188), IGF1R(3480), ITGA6(3655), LAMA3(3909)]
ONSET IN UTERO OR AT BIRTH(HP:0003601)	[MAP2K1(5604), MAP2K2(5605), KRAS(3845), HCN4(10021), BRAF(673)]
ONSET OF LYMPHEDEMA AROUND PUBERTY(HP:0003605)	[FOXC2(2303)]
ONSET USUALLY AT BIRTH(HP:0003624)	[FLT4(2324), ACTA1(58)]
ONSET USUALLY IN CHILDHOOD BUT SOMETIMES TO MIDDLE AGE(HP:0003670)	[SGCB(6443)]
ONSET USUALLY IN CHILDHOOD OR ADOLESCENCE(HP:0003620)	[GLA(2717), CACNA1A(773), SCN9A(6335)]
ONSET USUALLY IN FIRST DECADE(HP:0003619)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629)	[NDUFS7(374291), SDHA(6389), DLD(1738), BCS1L(617), TSC1(7248), SURF1(6834), NDUFS3(4722), NDUFV1(4723), COX15(1355), NDUFS4(4724), NDUFA2(4695), PLG(5340), NDUFS8(4728), C8orf38(137682)]
ONSET WITHIN FIRST 6 MONTHS OF LIFE(HP:0003600)	[LARGE(9215), VDR(7421)]
ONYCHODYSTROPHY, SEVERE(HP:0008408)	[GJB6(10804)]
ONYCHOGRYPHOSIS OF LARGE TOENAILS(HP:0008395)	[PLEC(5339)]
ONYCHOGRYPOSIS(HP:0001819)	[IKBKG(8517), KRT16(3868), KRT6A(3853), CTSC(1075), PLEC(5339)]
ONYCHOLYSIS(HP:0001806)	[GJB6(10804), WNT10A(80326), KRT85(3891)]
OPEN MOUTH(HP:0000194)	[MED12(9968), SLC9A6(10479), ATRX(546), GBA(2629), GLI3(2737)]
OPEN SUTURES(HP:0003794)	[CRTAP(10491), LEPRE1(64175)]
OPHTHALMOPARESIS(HP:0000597)	[PRNP(5621), BIN1(274), CHAT(1103), SALL4(57167), MAPT(4137), ROBO3(64221), PHOX2A(401), MYF6(4618), MTM1(4534), ATXN7(6314), NPC2(10577), ATXN3(4287), COX15(1355), NPC1(4864), KIF21A(55605), TYMP(1890), DNM2(1785), ATXN1(6310), ATXN2(6311), TCIRG1(10312), CHRNA1(1134), COLQ(8292), ACADS(35), DLD(1738), SURF1(6834), C10orf2(56652), SLC9A6(10479), SLC25A4(291), CHRNE(1145), CHRND(1144), ACTA1(58), CHRNB1(1140), NDUFS7(374291), RYR1(6261), RAPSN(5913), SDHA(6389), BCS1L(617), MUSK(4593), POLG(5428), TUBB3(10381), NDUFA2(4695), C8orf38(137682), OPA1(4976), ATP13A2(23400), NDUFS3(4722), NDUFV1(4723), GBA(2629), NDUFS4(4724), APTX(54840), NDUFS8(4728)]
OPHTHALMOPLEGIA(HP:0000602)	[NDUFS7(374291), BIN1(274), RYR1(6261), SALL4(57167), ROBO3(64221), SDHA(6389), PHOX2A(401), BCS1L(617), POLG(5428), MTM1(4534), MYF6(4618), ATXN7(6314), ATXN3(4287), COX15(1355), TUBB3(10381), NDUFA2(4695), KIF21A(55605), TYMP(1890), DNM2(1785), ATXN1(6310), ATXN2(6311), C8orf38(137682), OPA1(4976), ACADS(35), DLD(1738), SURF1(6834), C10orf2(56652), NDUFS3(4722), NDUFV1(4723), SLC9A6(10479), SLC25A4(291), GBA(2629), NDUFS4(4724), ACTA1(58), APTX(54840), NDUFS8(4728)]
OPHTHALMOPLEGIA PREDOMINANTLY AFFECTS UPWARD AND LATERAL GAZE(HP:0007762)	[RYR1(6261)]
OPHTHALMOPLEGIA, NONPROGRESSIVE RESTRICTIVE, BILATERAL OR UNILATERAL(HP:0007682)	[TUBB3(10381)]
OPISTHOTONUS(HP:0002179)	[HPRT1(3251), ASPA(443), GBA(2629), ACP2(53), CRLF1(9244), CYB5R3(1727), TSEN54(283989), MCCC1(56922), GCDH(2639)]
OPPOSABLE TRIPHALANGEAL THUMBS(HP:0005866)	[LMBR1(64327)]
OPTIC ATROPHY(HP:0000648)	[ARSA(410), FKRP(79147), BTD(686), AUH(549), ATRX(546), ERCC3(2071), PRPS1(5631), GJC2(57165), SPG7(6687), ERCC6(2074), PLP1(5354), DNAJC19(131118), GLI3(2737), ATXN7(6314), IKBKG(8517), COX15(1355), ATXN1(6310), TCIRG1(10312), GLB1(2720), GALC(2581), ASPA(443), MFSD8(256471), DKC1(1736), DLD(1738), NUP62(23636), SURF1(6834), MCOLN1(57192), L2HGDH(79944), C10orf2(56652), ACOX1(51), FKTN(2218), ARX(170302), RECQL4(9401), RPIA(22934), PDHX(8050), NAGA(4668), OPA3(80207), RAB23(51715), RAB3GAP1(22930), TNFSF11(8600), NDUFS7(374291), WFS1(7466), FH(2271), ERCC8(1161), ST3GAL5(8869), ATIC(471), SDHA(6389), FGFR2(2263), BCS1L(617), EIF2B2(8892), AAAS(8086), EIF2B5(8893), PPT1(5538), NDP(4693), EIF2B4(8890), EIF2B3(8891), NDUFA2(4695), EIF2B1(1967), C8orf38(137682), OPA1(4976), POMGNT1(55624), ALG3(10195), VPS13B(157680), MFN2(9927), COX6B1(1340), VCAN(1462), SOST(50964), PORCN(64840), TIMM8A(1678), NIPBL(25836), NDUFS3(4722), NDUFV1(4723), CLN3(1201), PANK2(80025), FASTKD2(22868), NDUFS4(4724), NDUFS8(4728)]
OPTIC ATROPHY FROM CRANIAL NERVE COMPRESSION(HP:0007958)	[SOST(50964)]
OPTIC GLIOMA(HP:0009734)	[NF1(4763), TSC1(7248), TSC2(7249)]
OPTIC NERVE COLOBOMA(HP:0000588)	[PAX6(5080), GJA1(2697), TMEM216(51259), INPP5E(56623), NIPBL(25836), PAX2(5076)]
OPTIC NERVE COMPRESSION(HP:0007807)	[CA2(760), TGFB1(7040)]
OPTIC NERVE DYSPLASIA(HP:0001093)	[MAP2K1(5604), MAP2K2(5605), ABCD3(5825), TYR(7299), PEX2(5828), MITF(4286), KRAS(3845), BRAF(673)]
OPTIC NERVE HYPOPLASIA(HP:0000609)	[FKRP(79147), FKTN(2218), PAX6(5080), SOX2(6657), LARGE(9215), POMT1(10585), POMT2(29954)]
OPTIC NEUROPATHY(HP:0001138)	[SH3BP2(6452), AGXT(189), NOTCH3(4854)]
ORAL BLEEDING(HP:0000167)	[GP1BA(2811), ITGA2B(3674), HPS3(84343), HPS5(11234), HPS1(3257), ITGB3(3690), BLOC1S3(388552), WAS(7454), HPS4(89781), F10(2159), HPS6(79803), DTNBP1(84062), ADAMTS2(9509)]
ORAL FRENULA(HP:0000191)	[CD96(10225)]
ORAL LEUKOPLAKIA(HP:0002745)	[NOP10(55505), TINF2(26277), TERC(7012), TERT(7015), DKC1(1736), NHP2(55651), GJB2(2706)]
ORAL ULCERS(HP:0000155)	[SLC37A4(2542), DCLRE1C(64421)]
ORBITAL CYSTS(HP:0001144)	[PTCH1(5727), PAX2(5076)]
ORGAN ABNORMALITY(HP:0000118)	[HIBCH(26275), SUCLG1(8802), A2M(2), TINF2(26277), TRIM24(8805), VPS33B(26276), SACS(26278), NAT1(9), DPM1(8813), TRPM6(140803), ABCA1(19), ABAT(18), HESX1(8820), ABCB7(22), ABL1(25), ABCA4(24), ACADM(34), ACADS(35), ACADL(33), ACAT1(38), ACADSB(36), ACADVL(37), B3GALTL(145173), ACOX1(51), MPO(4353), MPL(4352), MPZ(4359), MPV17(4358), ACP2(53), TNFRSF10B(8795), ACTA1(58), TNFRSF11A(8792), ACTB(60), ACTG1(71), UPF3B(65109), FAM83H(286077), HSPB8(26353), ACY1(95), ACVRL1(94), ACVR1(90), ADAR(103), ADA(100), MSH2(4436), CCM2(83605), NDUFA11(126328), WNK1(65125), TUBB2B(347733), ABCA12(26154), PHOX2B(8929), MTM1(4534), C7orf11(136647), MTHFR(4524), TMEM67(91147), ADSL(158), MFRP(83552), PRPF31(26121), MFSD8(256471), AGA(175), AFP(174), SGCE(8910), MTMR2(8898), MSX2(4488), AGTR1(185), NR0B1(190), MIPOL1(145282), AHCY(191), AGXT(189), AGL(178), ACAN(176), MSR1(4481), KIAA1279(26128), JAG1(182), AGT(183), MSX1(4487), AK2(204), MYBPC3(4607), AKT1(207), SQSTM1(8878), AK1(203), MYB(4602), ST3GAL5(8869), MVK(4598), MUSK(4593), MUTYH(4595), MUT(4594), EIF2B2(8892), EIF2B5(8893), TRIM37(4591), ALDH1A1(216), ALDH2(217), EIF2B4(8890), EIF2B3(8891), ALAS2(212), ABCD1(215), AKT2(208), PHGDH(26227), ALAD(210), PCDH15(65217), PROM1(8842), WISP3(8838), ALDOB(229), ALDOA(226), GMPS(8833), WNK4(65266), ALDH3A2(224), MTRR(4552), ALPL(249), MTR(4548), ALOX12B(242), MTTP(4547), AMT(275), BIN1(274), MAOB(4129), MAOA(4128), CLDN1(9076), ANCR(282), MAPT(4137), ANK2(287), MAT1A(4143), ANK1(286), AMBP(259), SLC4A11(83959), SLC7A7(9056), ALX3(257), MATN3(4148), PAPSS2(9060), AMELY(266), AMELX(265), AMPD1(270), MC2R(4158), AMH(268), AMHR2(269), AIP(9049), PSTPIP1(9051), C10orf2(56652), SLC25A4(291), SLC17A5(26503), CNNM4(26504), MAN2B1(4125), MANBA(4126), APOB(338), APOA2(336), APP(351), INPP5E(56623), MECP2(4204), APOE(348), APOC2(344), AIRE(326), APC(324), SPATA16(83893), MEFV(4210), APOA1(335), MEN1(4221), BSCL2(26580), CHST6(4166), ARAF(369), ABCC6(368), MC4R(4160), ARG1(383), MCM6(4175), MCF2(4168), MCL1(4170), AQP2(359), APRT(353), FAS(355), AR(367), ARSA(410), LGI1(9211), ARSB(411), ARSE(415), LARGE(9215), STS(412), MGP(4256), PHOX2A(401), CIITA(4261), MID1(4281), ATXN3(4287), MITF(4286), ASNS(440), MET(4233), ASPA(443), OSMR(9180), ASS1(445), ASL(435), ASAH1(427), AMLCR2(9163), ASCL1(429), KITLG(4254), SLC6A5(9152), MGAT2(4247), ATP1A3(478), CTDP1(9150), ATP1A2(477), MN1(4330), ATM(472), ATIC(471), MMP13(4322), MPI(4351), SERPINC1(462), KCNQ4(9132), PRPF3(9129), MOS(4342), MOCS2(4338), MOCS1(4337), MLLT3(4300), FOXO4(4303), MLL(4297), MLLT1(4298), AFF1(4299), MLH1(4292), ALDH7A1(501), MLF1(4291), FCGR2C(9103), ANTXR2(118429), MMP2(4313), ATP2A2(488), TBX19(9095), ATP2A1(487), FXYD2(486), AVP(551), AUH(549), NPR2(4882), ATRX(546), PROK2(60675), ATR(545), NRAS(4893), AVPR2(554), SLC11A2(4891), MCCC1(56922), B2M(567), NPM1(4869), NPHS1(4868), NPHP1(4867), NPC1(4864), USP9Y(8287), NPPA(4878), KDM5D(8284), COLQ(8292), EPX(8288), NTRK1(4914), DYSF(8291), MRPS22(56945), ATP6V1B1(525), PICALM(8301), ROR2(4920), DDR2(4921), GTF2H5(404672), RAB3GAP2(25782), ATP7B(540), AXIN2(8313), AXIN1(8312), ATP7A(538), MKKS(8195), OPN1SW(611), FBXO7(25793), OCA2(4948), BCR(613), GDF5(8200), OCRL(4952), BCS1L(617), BDNF(627), ATXN10(25814), GPR143(4935), OAT(4942), OPA1(4976), BBS1(582), TNFRSF11B(4982), BBS2(583), OPHN1(4983), BBS4(585), NIPBL(25836), BCHE(590), SIX6(4990), BCKDHA(593), CCND1(595), BCKDHB(594), KDM5C(8242), BCL2(596), OGDH(4967), OGG1(4968), BCL3(602), BTD(686), PLA2G6(8398), OXCT1(5019), TMPRSS3(64699), EFEMP2(30008), TBX21(30009), BRCA2(675), OTC(5009), BRAF(673), BUB1B(701), SLC22A18(5002), SLC46A1(113235), BTK(695), PAH(5053), BMP4(652), NR0B2(8431), SERPINE1(5054), BLM(641), PSAT1(29968), BFSP2(8419), FOXL2(668), BPGM(669), P4HB(5034), C20orf54(113278), GNPAT(8443), RAD54L(8438), DMGDH(29958), BMPR1A(657), BMPR1B(658), POMT2(29954), BMPR2(659), PAX7(5081), PAX6(5080), PBX1(5087), FZD4(8322), PAX4(5078), PAX3(5077), PAX2(5076), CA4(762), CA2(760), RXFP2(122042), PARK2(5071), RAX(30062), PAPPA(5069), FAM20C(56975), PAK3(5063), C1QA(712), C1R(715), COQ9(57017), C2(717), PCNT(5116), C3(718), PCK1(5105), CHST14(113189), PCK2(5106), PCM1(5108), SERPING1(710), PCCB(5096), C6(729), C7(730), MAD1L1(8379), C8A(731), C8B(732), C4A(720), PC(5091), PCBD1(5092), C5(727), CABC1(56997), PCCA(5095), PITPNM3(83394), MYCN(4613), P2RY12(64805), MYC(4609), SLURP1(57152), NELF(26012), SALL4(57167), MYH3(4621), AGPS(8540), GJC2(57165), CAPN3(825), MYF6(4618), MYH11(4629), IKBKG(8517), IKBKAP(8518), MYH7(4625), MYH8(4626), MYH9(4627), MYO7A(4647), MYO5B(4645), YARS(8565), SLC25A20(788), SEPN1(57190), MYO5A(4644), MYOC(4653), MCOLN1(57192), LMF1(64788), CACNA1C(775), CACNA1A(773), AP3B1(8546), CACNB2(783), NAGA(4668), NAGLU(4669), TCAP(8557), ICOS(29851), CACNA1F(778), CACNA1S(779), UOX(391051), KRIT1(889), NYX(60506), EVC2(132884), ALG6(29929), NBN(4683), NCF2(4688), PDSS2(57107), SERPINA6(866), CUL4B(8450), NDN(4692), NDP(4693), NDUFA1(4694), NDUFA2(4695), FOXN1(8456), CBS(875), NEB(4703), ALX4(60529), GOPC(57120), CAV3(859), PORCN(64840), PEX3(8504), NDUFS1(4719), RUNX1(861), RUNX2(860), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), OFD1(8481), NDUFS6(4726), NDUFS4(4724), UBIAD1(29914), CASP10(843), NDUFS8(4728), CASP8(841), CASR(846), CAT(847), PRSS12(8492), PPM1D(8493), CD40(958), CD40LG(959), SLC4A4(8671), NEFL(4747), CD36(948), SCARB2(950), NDUFAF2(91942), ALDH4A1(8659), NF1(4763), ABCB11(8647), NEU1(4758), PTCH2(8643), CD8A(925), NDUFAF3(25915), CD4(920), CD247(919), CD3E(916), CD3G(917), NF2(4771), JPH3(57338), STX16(8675), TNFSF11(8600), NHS(4810), CDK4(1019), NGF(4803), CDH3(1001), PINK1(65018), NME1(4830), CDH1(999), CHMP2B(25978), CDK11B(984), TP63(8626), RFXANK(8625), NODAL(4838), MMACHC(25974), PDE8B(8622), PNP(4860), NOTCH1(4851), PNKD(25953), NOTCH3(4854), FKRP(79147), CHAT(1103), PPOX(5498), MCCC2(64087), DNAJC19(131118), SLC35C1(55343), CDH23(64072), CTSA(5476), PPIB(5479), MATR3(9782), UBR1(197131), GNPTAB(79158), CHRNA1(1134), TMC1(117531), PPARG(5468), NOD2(64127), LYST(1130), SART3(9733), CHML(1122), POU3F4(5456), CHM(1121), SFTPA1(653509), C20orf7(79133), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), PON1(5444), CHRNB1(1140), CHRNA4(1137), CDR1(1038), ZEB2(9839), CDKN1B(1027), BBS12(166379), CDKN1C(1028), POLG(5428), CDKN2A(1029), POLH(5429), CEACAM5(1048), CEBPA(1050), CEBPE(1053), CECR(1055), POLA1(5422), PNMT(5409), CDSN(1041), CES1(1066), PNLIP(5406), CETP(1071), SFTPA2(729238), PMS2(5395), CFTR(1080), RB1CC1(9821), CUL7(9820), CTSC(1075), PMP22(5376), PRNP(5621), PRPS1(5631), ROBO3(64221), STRA6(64220), KIAA0196(9897), PRODH(5625), PROC(5624), PROS1(5627), TRIM33(51592), PROP1(5626), MAP2K1(5604), MAP2K2(5605), MAPK10(5602), ABCC2(1244), PRKCSH(5589), ABCG8(64241), ABCG5(64240), CNGA3(1261), FGD4(121512), CNGB1(1258), PRKAR1A(5573), PRKCG(5582), COL1A2(1278), COL1A1(1277), PRKCA(5578), ERCC8(1161), MED12(9968), PPT1(5538), NCF1(653361), PRCC(5546), CLCN1(1180), NOP10(55505), CLCN7(1186), PPP2R2B(5521), FRMD7(90167), CLCN5(1184), MFN2(9927), SUFU(51684), CLCNKB(1188), PPP1R3A(5506), CLN5(1203), TPP1(1200), CLN3(1201), DLEC1(9940), CARD9(64170), GOLGA5(9950), PPP2R1B(5519), LEPRE1(64175), CPT1A(1374), PGK1(5230), CPS1(1373), CPOX(1371), PGD(5226), CPN1(1369), PGAM2(5224), NSD1(64324), LMBR1(64327), GLRX5(51218), FERMT1(55612), ESCO2(157570), ABCB4(5244), CP(1356), PHB(5245), COX15(1355), PGR(5241), KIF21A(55605), GNE(10020), HCN4(10021), CFP(5199), CRX(1406), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), NT5C3(51251), CRH(1392), PEPD(5184), NR2E3(10002), PFKM(5213), SCO2(9997), KCNE2(9992), CREBBP(1387), SIL1(64374), ATP8B1(5205), SLC12A6(9990), PFKFB1(5207), CPT2(1376), PDHA1(5160), COMP(1311), ENPP1(5167), COL17A1(1308), COL9A3(1299), PDGFB(5155), COL9A2(1298), NHP2(55651), COL9A1(1297), COL8A2(1296), PDGFRB(5159), COL11A2(1302), PDE6B(5158), TSFM(10102), COL11A1(1301), PDGFRL(5157), PDGFRA(5156), COL5A2(1290), COL6A1(1291), COL4A6(1288), COL5A1(1289), COL7A1(1294), COL6A2(1292), COL6A3(1293), GPC6(10082), COL4A1(1282), USH1C(10083), COL2A1(1280), COL3A1(1281), COL4A4(1286), COL4A5(1287), SLC26A4(5172), PEX26(55670), PQBP1(10084), COL4A3(1285), POMGNT1(55624), VPS13B(157680), COX6B1(1340), SLC39A4(55630), SPG21(51324), PCSK1(5122), FLVCR2(55640), MAP3K8(1326), COMT(1312), KLF6(1316), CHD7(55636), SLC25A15(10166), PLOD1(5351), SLC25A13(10165), CTH(1491), SERPINF2(5345), LPAR6(10161), PLP1(5354), CTNNB1(1499), PLOD2(5352), CTNS(1497), IYD(389434), CSTB(1476), ATP6AP2(10159), PMM2(5373), AASS(10157), NKX2-5(1482), OPTN(10133), PKP2(5318), LRPPRC(10128), PKLR(5313), PKHD1(5314), PLAG1(5324), PLAT(5327), VKORC1(79001), CYBA(1535), CYB5A(1528), PLA2G2A(5320), CTSD(1509), ENAM(10117), ARX(170302), MBTPS2(51360), CRELD1(78987), PLG(5340), CTSK(1513), POMP(51371), PLEC(5339), MBD5(55777), CD96(10225), PIK3CA(5290), LMBRD1(55788), CSF2RA(1438), PRKAG2(51422), CRYBA1(1411), CRYAB(1410), PITX1(5307), PRG4(10216), PKD2(5311), PKD1(5310), PITX3(5309), CRYGD(1421), MLPH(79083), PITX2(5308), HR(55806), ALG3(10195), PHEX(5251), VCAN(1462), PHKA1(5255), DCLRE1C(64421), PHKA2(5256), CDK5RAP2(55755), PHKB(5257), MCFD2(90411), CST3(1471), CSF3R(1441), SERPINA1(5265), PHYH(5264), PI3(5266), PIGA(5277), DDB1(1642), SH3TC2(79628), RET(5979), DDB2(1643), CENPJ(55835), DCX(1641), MMAA(166785), DDC(1644), VAPB(9217), DCK(1633), DCTN1(1639), ACE(1636), REN(5972), RENBP(5973), DCR(1637), RDX(5962), NOG(9241), PRPH2(5961), LRRK2(120892), GCM2(9247), REG1A(5967), CRLF1(9244), RDH5(5959), SPATA7(55812), RCVRN(5957), OPN1LW(5956), RHO(6010), GRK1(6011), DYNC2H1(79659), RHAG(6005), MCPH1(79648), MARVELD2(153562), RFX5(5993), RFXAP(5994), DBT(1629), DCC(1630), DAZ1(1617), DBH(1621), DBI(1622), NPHP4(261734), NDUFS7(374291), CYP11A1(1583), RARA(5914), CYP4V2(285440), GPR56(9289), RAPSN(5913), CYP27B1(1594), RAG2(5897), CYP27A1(1593), UROC1(131669), RAG1(5896), CYP21A2(1589), CYP19A1(1588), CYP17A1(1586), CYP11B2(1585), CYP11B1(1584), CYP2A6(1548), RBP4(5950), CYP1A2(1544), CYP1B1(1545), TRIP11(9321), CYLD(1540), CYP1A1(1543), NDUFAF4(29078), CYBB(1536), CYP2D6(1565), BBS10(79738), SNAP29(9342), FAM123B(139285), DOK7(285489), TGM5(9333), RB1(5925), CYP2C19(1557), ZFP57(346171), CYP2C9(1559), SLC25A22(79751), DMPK(1760), RPGR(6103), RP2(6102), RP1(6101), RP9(6100), KL(9365), DNM2(1785), ROM1(6094), DNMT3B(1789), DIAPH1(1729), OTOF(9381), DIO1(1733), GRHPR(9380), ZFHX4(79776), DLAT(1737), DKC1(1736), DLD(1738), CFC1(55997), MYH14(79784), DLX3(1747), RPE65(6121), RECQL4(9401), DMD(1756), HPS6(79803), DMP1(1758), EHMT1(79813), FLCN(201163), ACAD9(28976), CYP7B1(9420), RNASEL(6041), DHCR24(1718), RMRP(6023), DHFR(1719), DGUOK(1716), DHCR7(1717), DGCR(1714), OSTM1(28962), RLBP1(6017), CYB5R3(1727), SH3PXD2B(285590), ITM2B(9445), ALG1(56052), DECR1(1666), ROBLD3(28956), TIMM8A(1678), CFD(1675), EIF2AK3(9451), DES(1674), DFNA5(1687), RNF6(6049), ARHGEF6(9459), CHST3(9469), TBX4(9496), CLDN19(149461), MYOT(9499), BBS5(129880), EDNRA(1909), EDN3(1908), EDNRB(1910), EDA(1896), PTCH1(5727), TYMP(1890), ECM1(1893), WWOX(51741), PTGS1(5742), PTH(5741), PTGIS(5740), PTEN(5728), UPB1(51733), LITAF(9516), RAB23(51715), PTH1R(5745), DYT3(1863), TOR1A(1861), ADAMTS2(9509), PRSS1(5644), MINPP1(9562), PRPS2(5634), PSAP(5660), SLC26A2(1836), PSEN1(5663), HBEGF(1839), DSP(1832), PRTN3(5657), DSPP(1834), DSG1(1828), DSG2(1829), DSC2(1824), RELN(5649), TMPRSS15(5651), ANKH(56172), ATN1(1822), PSG1(5669), DRD2(1813), SLC26A3(1811), PSEN2(5664), DPYD(1806), DPYS(1807), DPAGT1(1798), PEX19(5824), EP300(2033), ABCD3(5825), PEX2(5828), EPB42(2038), KLK4(9622), PEX5(5830), STOM(2040), PYGL(5836), PYGM(5837), ENG(2022), ENO3(2027), RSPO4(343637), SLC36A2(153201), ELK1(2002), ELN(2006), QDPR(5860), EMD(2010), IQCB1(9657), RAB27A(5873), ARHGEF10(9639), ELANE(1991), MRAP(56246), CDC73(79577), PTPN11(5781), EGFR(1956), EGR2(1959), EIF2B1(1967), ADAMTSL2(9719), PTPRJ(5795), NLRP3(114548), PTS(5805), EFNB1(1947), SUMF1(285362), SEMA3E(9723), KLHDC8B(200942), PVRL1(5818), PVR(5817), FBN1(2200), ADAMTSL4(54507), FBN2(2201), EFEMP1(2202), FBP1(2203), SPINK5(11005), CCBE1(147372), FBLN1(2192), SLC16A1(6566), EDARADD(128178), SLC16A2(6567), SLC22A5(6584), KCNQ1OT1(10984), FAH(2184), SNAI2(6591), FANCD2(2177), FANCC(2176), FANCE(2178), FECH(2235), SLC5A5(6528), NEUROG3(50674), SLC6A8(6535), FKTN(2218), SLC12A3(6559), SLC12A1(6557), PUS1(80324), WNT10A(80326), SNRPN(6638), FH(2271), LHX4(89884), FGFR1(2260), FGFR3(2261), FGFR2(2263), FGF14(2259), FGF10(2255), SOS1(6654), FGF3(2248), FGD1(2245), FGB(2244), SOD1(6647), EDAR(10913), FGA(2243), GDF6(392255), FES(2242), SMN1(6606), FOXC2(2303), FOXE3(2301), FOXI1(2299), SMCR(6600), FOXC1(2296), FOXF1(2294), SMARCB1(6598), ALOXE3(59344), TRPV4(59341), SNCA(6622), SNCB(6620), SMS(6611), SMPD1(6609), ERBB3(2065), ERBB2(2064), DEC1(50514), ERCC2(2068), SFTPB(6439), ERCC3(2071), EYA4(2070), ERCC5(2073), SFTPD(6441), ERCC4(2072), SGCB(6443), ERCC6(2074), SGCA(6442), SGCG(6445), SGSH(6448), EPHX1(2052), BLOC1S3(388552), SH3BP2(6452), CLN8(2055), SH3GL1(6455), SYCP3(50511), SPG11(80208), SOX18(54345), FTCD(10841), ETFDH(2110), ETFB(2109), ETFA(2108), WNT4(54361), OPA3(80207), GJB6(10804), EXT2(2132), SEPT9(10801), SIX3(6496), EXT1(2131), APOA5(116519), EWSR1(2130), CEP290(80184), SLC1A1(6505), EYA1(2138), SLC3A1(6519), SLC2A1(6513), SLC2A2(6514), SLC17A3(10786), ETV1(2115), SLC5A2(6524), GDAP1(54332), ETV6(2120), EVC(2121), SLC4A1(6521), SLC5A1(6523), SMARCAL1(50485), FRAS1(80144), F13B(2165), SHH(6469), F13A1(2162), F12(2161), F11(2160), FANCA(2175), TSEN54(283989), SI(6476), SHOX(6473), F2(2147), F9(2158), F10(2159), SIM1(6492), F8(2157), F7(2155), F5(2153), SCN5A(6331), SCN4A(6329), SCN9A(6335), NAGS(162417), SCN1A(6323), HPS5(11234), SLC6A19(340024), SCN2A(6326), RNF139(11236), ATXN7(6314), ATXN8OS(6315), ATXN1(6310), ATXN2(6311), SC5DL(6309), SALL1(6299), SAT1(6303), TSPAN31(6302), RAB39B(116442), CHEK2(11200), GNASAS(149775), NUP62(23636), DCAF17(80067), SAG(6295), FSHB(2488), FSHR(2492), SEC63(11231), TRAPPC2(6399), SLC6A20(54716), TREH(11181), LZTS1(11178), CNGB3(54714), SDHD(6392), SDHC(6391), SDHB(6390), SDHA(6389), PDP1(54704), AMACR(23600), PIKFYVE(200576), FUT1(2523), LEMD3(23592), PDSS1(23590), FUCA2(2519), FUCA1(2517), RASSF1(11186), FTL(2512), SLC37A4(2542), G6PD(2539), GLMN(11146), G6PC(2538), IL1RAPL1(11141), DARC(2532), SLC7A9(11136), TMC8(147138), PANK2(80025), SCNN1G(6340), GAA(2548), UGT1A1(54658), SCNN1A(6337), SCNN1B(6338), LDB3(11155), FOXE1(2304), FOXO1(2308), RPS6KA3(6197), FLG(2312), FLNC(2318), GRHL2(79977), FLNA(2316), FLNB(2317), FLT3(2322), FLT4(2324), FMO3(2328), FN1(2335), AFF2(2334), FMR1(2332), TRIOBP(11078), KERA(11081), L2HGDH(79944), ADAMTS13(11093), RYR2(6262), RYR1(6261), EGLN1(54583), RS1(6247), FXN(2395), HYLS1(219844), RPS14(6208), HPS4(89781), RPS19(6223), TH(7054), PLCE1(51196), MERTK(10461), TGIF1(7050), GLUD1(2746), TGM1(7051), ATXN8(724066), TGFBR2(7048), TGFBR1(7046), GLRB(2743), CLN6(54982), GLRA1(2741), TGFBI(7045), TGFB3(7043), CRBN(51185), SLC25A38(54977), TGFB1(7040), GLI3(2737), DCXR(51181), GLE1(2733), THRB(7068), GLDC(2731), THRA(7067), THPO(7066), GCLC(2729), EMG1(10436), MYO15A(51168), GLB1(2720), TK2(7084), GLA(2717), GPC3(2719), NKX2-1(7080), CRTAP(10491), SEC23A(10484), TIMP2(7077), GK(2710), TIMP3(7078), GJB1(2705), GJB2(2706), SEC23B(10483), GJB3(2707), SLC9A6(10479), GJA8(2703), GJA5(2702), GJA1(2697), GHSR(2693), FST(10468), GIP(2695), GIF(2694), PROKR2(128674), GH1(2688), GHR(2690), SAR1B(51128), GP1BA(2811), GP9(2815), GP1BB(2812), NDRG1(10397), COL18A1(80781), GNS(2799), GNRHR(2798), TUBB3(10381), SBDS(51119), GNRH1(2796), TNFRSF1A(7132), TNF(7124), ABHD5(51099), GNAS(2778), TNXB(7148), TNNI2(7136), TNNI3(7137), TNNT1(7138), TNNT2(7139), GNAI2(2771), TNNT3(7140), SDHAF2(54949), GM2A(2760), TPBG(7162), TPI1(7167), TP53(7157), SDHAF1(644096), TBXAS1(6916), ATL1(51062), TBX15(6913), HNF1A(6927), GATA1(2623), TBX3(6926), CC2D1A(54862), GARS(2617), GALT(2592), HNF1B(6928), GAMT(2593), TCIRG1(10312), GALC(2581), TCOF1(6949), TCN2(6948), GALE(2582), BCOR(54880), GALNS(2588), GALNT3(2591), GALK1(2584), TRA@(6955), MKS1(54903), GABRG2(2566), SLC22A12(116085), MRPS16(51021), WHSC1L1(54904), GAD1(2571), GGCX(2677), B4GALT1(2683), NLRP7(199713), ZMPSTE24(10269), GPHN(10243), GDF1(2657), AHI1(54806), DYM(54808), TEAD1(7003), SAMD9(54809), GDI1(2664), GFAP(2670), TECTA(7007), GDNF(2668), GCH1(2643), TEK(7010), GCK(2645), TERC(7012), TERT(7015), SOST(50964), TF(7018), GCSH(2653), TFAP2B(7021), OPN1MW(2652), TFAP2A(7020), GATA3(2625), TBX22(50945), GBA(2629), GBE1(2632), APTX(54840), TG(7038), TGFA(7039), GCDH(2639), GULOP(2989), GUSB(2990), GUCA1A(2978), FOXP3(50943), PDE11A(50940), GUCY2D(3000), CDKL5(6792), STK11(6794), USH1G(124590), AURKC(6795), FOXP2(93986), GYS2(2998), ELOVL4(6785), CANT1(124583), MSH6(2956), SURF1(6834), ABCC8(6833), MYLK2(85366), RAI1(10743), SUOX(6821), HBQ1(3049), HBG2(3048), TAF1(6872), HBZ(3050), SERPIND1(3053), HCCS(3052), HBA2(3040), HBB(3043), TAC3(6866), HBD(3045), CYP2R1(120227), HBG1(3047), TACR3(6870), HBE1(3046), HTT(3064), SPINT2(10653), HCRT(3060), SYN1(6853), SERPINA7(6906), TBCE(6905), TBX5(6910), TBP(6908), TBX1(6899), ATCAY(85300), TAZ(6901), EBP(10682), TAP1(6890), DLL3(10683), TAP2(6891), HADHB(3032), HADH(3033), BBS7(55212), CLDN16(10686), HBA1(3039), DHH(50846), TAPBP(6892), AGRN(375790), HADHA(3030), TAL1(6886), HSD17B10(3028), HAGH(3029), SLC19A2(10560), SPG7(6687), SLC34A2(10568), SPAST(6683), SOX10(6663), SOX9(6662), SOX2(6657), NPC2(10577), SOX3(6658), NSDHL(50814), GPX1(2876), POMT1(10585), ANO5(203859), SPTB(6710), SPTA1(6708), GPI(2821), PRPF8(10594), AKR1D1(6718), D2HGDH(728294), SRD5A2(6716), SPTBN2(6712), PNPO(55163), GFM1(85476), SPINK1(6690), THAP1(55145), SPR(6697), SRY(6736), GRM6(2916), FBLN5(10516), GSN(2934), GSS(2937), GSR(2936), STAR(6770), ST14(6768), STAT3(6774), STAT1(6772), SSTR5(6755), GRN(2896), SLC34A3(142680), AGPAT2(10555), SLC35A1(10559), SPTLC1(10558), NR3C1(2908), MMADHC(27249), HSD17B3(3293), HSD17B4(3295), H19(283120), HSD11B2(3291), GNMT(27232), HRAS(3265), COQ2(27235), DOLK(22845), HRG(3273), BBS9(27241), HSPB1(3315), HSF4(3299), ZNF35(7584), DISC2(27184), KCTD7(154881), HOXA11(3207), HOXA13(3209), ASPM(259266), C8orf38(137682), CNBP(7555), HPRT1(3251), HPGD(3248), HPS1(3257), HOXD13(3239), FASTKD2(22868), HOXD10(3236), GNPTG(84572), HPD(3242), ZAP70(7535), TRIM32(22954), CCT5(22948), HMGCL(3155), ZFY(7544), HMBS(3145), ZIC1(7545), ZIC3(7547), FAM126A(84668), HLCS(3141), HOXA2(3199), TLX1(3195), XDH(7498), WT2(7491), WT1(7490), VMA21(203547), KISS1R(84634), RPIA(22934), XPC(7508), ZNF469(84627), HNF4A(3172), RAB3GAP1(22930), XPA(7507), WHCR(7467), HK1(3098), WFS1(7466), WHSC1(7468), WNT10B(7480), HGD(3081), HGF(3082), WRN(7486), BEAN(146227), WNT3(7473), HEXA(3073), HEXB(3074), CFH(3075), WNT7A(7476), HFE(3077), BEST1(7439), VLDLR(7436), HLA-DRA(3122), VHL(7428), VWF(7450), WAS(7454), GORAB(92344), MCEE(84693), VRK1(7443), HLA-A(3105), MNX1(3110), VCP(7415), VDR(7421), USH2A(7399), IHH(3549), CLRN1(7401), UQCRB(7381), UPK3A(7380), SLC2A10(81031), UROD(7389), UROS(7390), IL2RG(3561), UQCRC1(7384), IL3RA(3563), UMPS(7372), UNG(7374), UMOD(7369), IFNGR1(3459), UCHL1(7345), IGF1(3479), IGBP1(3476), IGF1R(3480), UBE3A(7337), TTC8(123016), LMNB2(84823), UBB(7314), UBA1(7317), TYR(7299), IGHMBP2(3508), TTBK2(146057), CDAN1(146059), TYROBP(7305), TYRP1(7306), IGKC(3514), DIRC2(84925), TWIST1(7291), TULP1(7287), IDS(3423), TTR(7276), TTPA(7274), TTN(7273), TST(7263), TSPYL1(7259), TSHB(7252), TSHR(7253), SP110(3431), TSC1(7248), TSC2(7249), CFI(3426), HSPG2(3339), TRPS1(7227), BCMO1(53630), HSPD1(3329), TRH(7200), MMAB(326625), HYAL1(3373), TPM2(7169), TPM1(7168), TPM3(7170), TPO(7173), MASTL(84930), TPMT(7172), GAN(8139), SATB2(23314), BRIP1(83990), KIT(3815), ADAMTS10(81794), RPGRIP1L(23322), KLKB1(3818), SBF2(81846), KHK(3795), KIF5A(3798), TMPRSS6(164656), KCNMA1(3778), KCNQ2(3785), VANGL1(81839), KCNQ1(3784), KCNQ3(3786), KDR(3791), KCNJ11(3767), ARHGEF12(23365), FGF23(8074), KCNJ13(3769), MED25(81857), AAAS(8086), KCNC3(3748), KCNJ2(3759), KCNJ1(3758), KCNH2(3757), GPR98(84059), KCNE1(3753), DTNBP1(84062), CD82(3732), JUP(3728), KAL1(3730), DICER1(23405), KCNA1(3736), ATP13A2(23400), PABPN1(8106), JAK2(3717), IGHR(8117), ZFPM2(23414), IVD(3712), TCL1A(8115), MLYCD(23417), CRB1(23418), AMN(81693), ITPR1(3708), ZIC4(84107), ARL6(84100), B4GALT7(11285), ITGB3(3690), ITGB4(3691), ITGB2(3689), CCDC6(8030), NCOA4(8031), MLLT10(8028), TREX1(11277), CUBN(8029), ALS2(57679), LHX3(8022), NUP214(8021), ITGA2(3673), ITGA2B(3674), TMC6(11322), IRF6(3664), PARK7(11315), PRX(57716), IRF1(3659), DOCK8(81704), CSRP3(8048), PDHX(8050), PDX1(3651), ETHE1(23474), ISCU(23479), ITGA6(3655), ZFYVE26(23503), INSR(3643), INSL3(3640), TNFRSF13B(23495), INS(3630), EPM2A(7957), ING1(3621), TNDM(7952), HGSNAT(138050), IMPDH1(3614), CLCF1(23529), SHFM1(7979), ATP6V0A2(23545), IL12B(3593), GJB4(127534), LYL1(4066), LYZ(4069), SH2D1A(4068), TACSTD2(4070), SETX(23064), MANF(7873), RAB7A(7879), SMAD4(4089), SMAD9(4093), NIPA1(123606), KIF1B(23095), LRP2(4036), LRP5(4041), ISCW(7928), VSX1(30813), ALDH5A1(7915), LTC4S(4056), LMNB1(4001), LMNA(4000), NPHS2(7827), C1QTNF5(114902), LOX(4015), LOR(4014), NHLRC1(378884), LMX1B(4010), SPG20(23111), LPL(4023), PHF6(84295), BSND(7809), LPA(4018), TREM2(54209), NLGN4X(57502), LPP(4026), LHCGR(3973), LHB(3972), HPS3(84343), LIFR(3977), LIPC(3990), TUBA1A(7846), PCDH19(57526), LIPA(3988), ALMS1(7840), MOGS(7841), LMAN1(3998), CXCR4(7852), PAX8(7849), LDLR(3949), LCT(3938), SLC35D1(23169), UQCRQ(27089), LPIN1(23175), LAMB3(3914), PLEKHG5(57449), LAMB1(3912), LAMB2(3913), LAMC2(3918), VPS13A(23230), LAMA2(3908), LAMA3(3909), INVS(27130), LCAT(3931), LBR(3930), MLC1(23209), LAMP2(3920), KRT81(3887), ZBTB16(7704), DNAI1(27019), KRT17(3872), ATP2C1(27032), L1CAM(3897), KRT86(3892), MLH3(27030), FREM2(341640), NPHP3(27031), KRT83(3889), KRT85(3891), KRT6B(3854), KRT5(3852), KRT6A(3853), KRT3(3850), NKX2-6(137814), KRT4(3851), KRT1(3848), KRT2(3849), KRAS(3845), AICDA(57379), DUOXA2(405753), KRT16(3868), SLITRK1(114798), KRT14(3861), KRT13(3860), KRT12(3859), KRT10(3858), KRT9(3857)]
ORGANIC ACIDURIA(HP:0001992)	[BTD(686), HLCS(3141), MCCC2(64087), HMGCL(3155)]
OROFACIAL DYSKINESIA(HP:0002310)	[ATXN7(6314), CHMP2B(25978), PANK2(80025), VPS13A(23230), FGF14(2259)]
OROTIC ACID CRYSTALLURIA(HP:0003526)	[UMPS(7372)]
OROTIC ACID URINARY OBSTRUCTION(HP:0000810)	[UMPS(7372)]
OROTICACIDURIA(HP:0003218)	[SLC7A7(9056), UMPS(7372), ARG1(383)]
OROTIDINE-5-PRIME-PHOSPHATE DECARBOXYLASE DEFECT(HP:0003267)	[UMPS(7372)]
ORTHOSTATIC HYPOTENSION(HP:0001278)	[AAAS(8086), TTR(7276), LMNB1(4001), NTRK1(4914), HEXB(3074), DBH(1621), CYP11B2(1585), ATP7A(538)]
ORTHOSTATIC HYPOTENSION DUE TO AUTONOMIC DYSFUNCTION(HP:0004926)	[LMNB1(4001)]
ORTHOSTATIC HYPOTENSION, SEVERE, RECURRENT(HP:0004932)	[DBH(1621)]
OSTEOARTHRITIS(HP:0002758)	[FBN1(2200), TRAPPC2(6399), ANKH(56172), CLCN7(1186), PHEX(5251), COMP(1311), TNXB(7148), COL9A3(1299), WISP3(8838), COL9A2(1298), COL9A1(1297), MMP13(4322), COL11A2(1302), COL5A2(1290), COL5A1(1289), PAPSS2(9060), MATN3(4148), COL1A2(1278), ATP7B(540), COL2A1(1280), COL1A1(1277), COL3A1(1281)]
OSTEOARTHRITIS, MORE COMMON IN ADULTS(HP:0005762)	[PHEX(5251)]
OSTEOGENIC SARCOMA(HP:0002669)	[WRN(7486), RB1(5925), RECQL4(9401), CHEK2(11200), TP53(7157), CDKN2A(1029)]
OSTEOLYSIS(HP:0002797)	[MMP2(4313), ANTXR2(118429), UROS(7390)]
OSTEOLYSIS INVOLVING BONES OF THE FEET(HP:0009134)	[WNK1(65125), MMP2(4313), LMNA(4000), COL3A1(1281), ZMPSTE24(10269)]
OSTEOLYSIS INVOLVING BONES OF THE LOWER LIMBS(HP:0009139)	[WNK1(65125), MMP2(4313), LMNA(4000), COL3A1(1281), ZMPSTE24(10269)]
OSTEOLYSIS INVOLVING METATARSAL BONES(HP:0001473)	[MMP2(4313)]
OSTEOLYSIS INVOLVING TARSAL BONES(HP:0006234)	[MMP2(4313)]
OSTEOLYTIC DEFECTS OF BONES(HP:0010737)	[WNK1(65125), MMP2(4313), LMNA(4000), CTSC(1075), COL3A1(1281), CTSK(1513), FLNA(2316), ZMPSTE24(10269)]
OSTEOLYTIC DEFECTS OF THE DISTAL PHALANGES OF THE HAND(HP:0009839)	[LMNA(4000), CTSK(1513), ZMPSTE24(10269)]
OSTEOLYTIC DEFECTS OF THE PHALANGES OF THE HAND(HP:0009771)	[WNK1(65125), LMNA(4000), CTSC(1075), COL3A1(1281), CTSK(1513), FLNA(2316), ZMPSTE24(10269)]
OSTEOMALACIA(HP:0002749)	[CLCN5(1184), PHEX(5251), SLC2A2(6514), ALPL(249), ATP7B(540), OCRL(4952), FGF23(8074), SLC4A1(6521)]
OSTEOMYELITIS(HP:0002754)	[IFNGR1(3459), TNFSF11(8600), CLCN7(1186), NTRK1(4914), STAT1(6772), CCT5(22948), HBB(3043), CYBA(1535), NGF(4803), CYBB(1536), NCF2(4688), IL12B(3593), NCF1(653361), RAB7A(7879), TCIRG1(10312)]
OSTEOMYELITIS DUE TO IMMUNODEFICIENCY(HP:0002755)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
OSTEOMYELITIS OR NECROSIS, DISTAL, DUE TO SENSORY NEUROPATHY (FEET)(HP:0001886)	[RAB7A(7879), SPTLC1(10558)]
OSTEOPENIA(HP:0000938)	[FBN1(2200), TRPS1(7227), FBN2(2201), AVP(551), SNRPN(6638), HSD17B4(3295), BRAF(673), B4GALT7(11285), PLOD2(5352), MAP2K1(5604), MAP2K2(5605), PDE11A(50940), NDN(4692), IGF1(3479), KCNJ1(3758), PMM2(5373), ANO5(203859), SMARCAL1(50485), ADAMTSL2(9719), STAT3(6774), CRTAP(10491), LRP5(4041), KRAS(3845), UROS(7390), PRKAR1A(5573), ANTXR2(118429), MMP2(4313), SLC17A5(26503), SLC12A1(6557), GNPAT(8443), COL1A2(1278), NAGA(4668), PTH1R(5745), COL1A1(1277), MGAT2(4247), ADAMTS2(9509)]
OSTEOPOROSIS(HP:0000939)	[HSPG2(3339), PLOD1(5351), SNRPN(6638), PEX2(5828), LMNA(4000), VDR(7421), ERCC6(2074), PDE11A(50940), SLC7A7(9056), NDN(4692), WRN(7486), CYP27A1(1593), CBS(875), HFE(3077), PEX26(55670), GLB1(2720), SC5DL(6309), CANT1(124583), GNAS(2778), SLC37A4(2542), TNFRSF11B(4982), G6PC(2538), PEX1(5189), AIP(9049), GALNS(2588), DKC1(1736), LRP5(4041), GK(2710), EIF2AK3(9451), LIFR(3977), PCCB(5096), PRKAR1A(5573), ANTXR2(118429), MMP2(4313), FSHR(2492), GORAB(92344), ATP7B(540), RECQL4(9401), COL1A1(1277), SMS(6611), RAB3GAP1(22930), SMPD1(6609), PCCA(5095), ATP7A(538)]
OSTEOSCLEROSIS(HP:0010738)	[PEX19(5824), TNFSF11(8600), ABCD3(5825), TBXAS1(6916), SQSTM1(8878), PEX2(5828), ENPP1(5167), ARSE(415), PEX5(5830), GGCX(2677), ERCC8(1161), AGPS(8540), MGP(4256), HSD17B4(3295), ERCC6(2074), FLNA(2316), TGFB1(7040), DHCR24(1718), CA2(760), THRB(7068), LEMD3(23592), DYM(54808), NSDHL(50814), NEU1(4758), ANO5(203859), PEX26(55670), CLCN7(1186), TBCE(6905), PEX10(5192), PEX14(5195), SOST(50964), PEX13(5194), PEX1(5189), PEX7(5191), LRP5(4041), PEX3(8504), SUMF1(285362), DDR2(4921), RUNX2(860), EBP(10682), LBR(3930), DLX3(1747), GNPAT(8443), TNFRSF11A(8792), CTSK(1513), DMP1(1758)]
OSTEOSCLEROSIS, DIFFUSE SYMMETRICAL(HP:0005789)	[CLCN7(1186), LRP5(4041)]
OTITIS MEDIA(HP:0000388)	[DNAI1(27019), FGFR3(2261), NSD1(64324), TNFRSF13B(23495), NBN(4683), MGP(4256), FGFR2(2263), FLNA(2316), SLC35C1(55343), IDS(3423), DHCR7(1717), RAG2(5897), RAG1(5896), BTK(695), COL2A1(1280), GNPTAB(79158), DCLRE1C(64421), TP63(8626), IL2RG(3561), CFI(3426), TAP1(6890), LBR(3930), TAP2(6891), WAS(7454), ALMS1(7840), TAPBP(6892), PNP(4860), ICOS(29851)]
OTOSCLEROSIS(HP:0000362)	[COL1A2(1278), COL1A1(1277)]
OVAL FACE(HP:0000300)	[TP63(8626)]
OVARIAN CYSTS(HP:0000138)	[PPP1R3A(5506), BSCL2(26580), PPARG(5468), INSR(3643), LMNA(4000), STK11(6794), AGPAT2(10555), POR(5447), FST(10468), CYP19A1(1588), PTEN(5728)]
OVARIAN FIBROMA(HP:0010618)	[PTCH1(5727)]
OVARIAN PAPILLARY ADENOCARCINOMA(HP:0006774)	[CTNNB1(1499)]
OVERFOLDED HELICES(HP:0000396)	[HSPG2(3339), SALL1(6299), FAM123B(139285), CPT2(1376), TFAP2A(7020)]
OVERFOLDING OF THE SUPERIOR HELICES(HP:0004453)	[SALL1(6299)]
OVERGROWTH(HP:0001548)	[FBN1(2200), SOST(50964), PTEN(5728)]
OVERGROWTH OF EXTERNAL GENITALIA(HP:0003247)	[KCNQ1OT1(10984), NSD1(64324), CDKN1C(1028), H19(283120)]
OVERRIDING AORTA(HP:0002623)	[HCCS(3052), FGFR2(2263)]
OVERRIDING TOES(HP:0001845)	[CD96(10225), NSD1(64324)]
OVERTUBULATED LONG BONES(HP:0006391)	[ZMPSTE24(10269)]
OVOID THORACOLUMBAR VERTEBRAE(HP:0003309)	[SGSH(6448), HGSNAT(138050), GNS(2799), NAGLU(4669)]
OVOID VERTEBRAL BODIES(HP:0003300)	[SMARCAL1(50485), ARSB(411), HGSNAT(138050), NPR2(4882), COMP(1311), GALNS(2588), SGSH(6448), LBR(3930), GNS(2799), MATN3(4148), SBDS(51119), COL2A1(1280), IHH(3549), NAGLU(4669), GNPTAB(79158), GLB1(2720)]
OYXCEPHALY(HP:0000263)	[TWIST1(7291), FGFR2(2263)]
PACE OF PROGRESSION(HP:0003679)	[AMT(275), SCN5A(6331), MYOT(9499), DCX(1641), VPS33B(26276), SETX(23064), GAN(8139), DCTN1(1639), GLI3(2737), MYF6(4618), IKBKAP(8518), GLE1(2733), LRRK2(120892), GLDC(2731), HRAS(3265), COX15(1355), MYH7(4625), DOLK(22845), UBR1(197131), GNPTAB(79158), GLB1(2720), CHRNA1(1134), NIPA1(123606), MYO5B(4645), SEPN1(57190), KIF1B(23095), KIF5A(3798), CRTAP(10491), DYSF(8291), SURF1(6834), MYLK2(85366), C10orf2(56652), SCO2(9997), CACNA1C(775), SLC25A4(291), MPZ(4359), SLC17A5(26503), CHRNE(1145), CHRND(1144), SLC12A6(9990), CHRNB1(1140), SUOX(6821), ATP7A(538), NDUFS7(374291), LMNB1(4001), LMNA(4000), RAPSN(5913), FGFR3(2261), GDF5(8200), SDHA(6389), FGFR2(2263), MECP2(4204), BCS1L(617), KCTD7(154881), POLG(5428), TSFM(10102), FGF14(2259), PSAP(5660), AAAS(8086), COL6A1(1291), KCNC3(3748), SOS1(6654), PSEN1(5663), DSP(1832), TUBB3(10381), COL6A2(1292), NDUFA2(4695), COL6A3(1293), C8orf38(137682), BSCL2(26580), SMN1(6606), GNAS(2778), JUP(3728), TBP(6908), CAV3(859), ATCAY(85300), ATP13A2(23400), TAZ(6901), PABPN1(8106), WNK1(65125), NDUFS3(4722), SNCA(6622), DLL3(10683), NDUFV1(4723), LIPA(3988), HADHB(3032), PANK2(80025), NDUFS4(4724), OGDH(4967), GAA(2548), NDUFS8(4728), AR(367), PMP22(5376), HADHA(3030), PRNP(5621), ABCD3(5825), SLC25A22(79751), PEX2(5828), TRIM32(22954), ITPR1(3708), CCT5(22948), PRPS1(5631), SGCB(6443), KIAA0196(9897), FLNC(2318), PLP1(5354), SGCG(6445), SLC34A2(10568), HMGCL(3155), GARS(2617), SPAST(6683), FLNB(2317), ITGB4(3691), ATXN3(4287), NPC2(10577), TTN(7273), MAPK10(5602), CLN8(2055), ALS2(57679), TREX1(11277), GAMT(2593), SLC35D1(23169), NSDHL(50814), ABCB11(8647), DNM2(1785), ANO5(203859), POMT1(10585), LAMB3(3914), PLEKHG5(57449), LAMC2(3918), SPG11(80208), PKHD1(5314), EMD(2010), DKC1(1736), PARK7(11315), DLD(1738), ETFDH(2110), VMA21(203547), ETFB(2109), SPTBN2(6712), ETFA(2108), LAMA3(3909), CTSD(1509), LBR(3930), RAB27A(5873), DOCK8(81704), AGXT(189), PRKCG(5582), ITGA6(3655), HSPG2(3339), ZFYVE26(23503), RYR1(6261), FZD4(8322), HSPD1(3329), CYP7B1(9420), MUSK(4593), PINK1(65018), CRYAB(1410), FAM20C(56975), TEAD1(7003), GDAP1(54332), CLCN5(1184), ALG1(56052), KRT3(3850), MFN2(9927), SOST(50964), TSEN54(283989), GCSH(2653), ANTXR2(118429), PDE8B(8622), ALPL(249), GBE1(2632), KRT12(3859)]
PACHYGYRIA(HP:0001302)	[FKRP(79147), POMGNT1(55624), DCX(1641), PEX2(5828), LARGE(9215), ATR(545), ETFDH(2110), MCPH1(79648), ETFB(2109), ETFA(2108), TUBA1A(7846), FKTN(2218), SNAP29(9342), POMT1(10585), POMT2(29954)]
PAIN INSENSITIVITY, DIFFUSE(HP:0007021)	[NTRK1(4914)]
PAINLESS FRACTURES DUE TO INJURY(HP:0002661)	[WNK1(65125), SCN9A(6335), NGF(4803)]
PALATE TELANGIECTASIA(HP:0002707)	[ENG(2022), ACVRL1(94)]
PALE OPTIC DISKS(HP:0000543)	[PEX19(5824), NDUFAF3(25915), MFN2(9927), PEX10(5192), PEX14(5195), PEX5(5830), PEX13(5194), PEX1(5189), NDUFA11(126328), PEX3(8504), NDUFAF4(29078), NDUFS1(4719), NDUFAF2(91942), NDUFV1(4723), NDUFS2(4720), C20orf7(79133), NDUFS6(4726), NDUFS4(4724), NDUFA1(4694), CNNM4(26504), PEX26(55670)]
PALE PIGMENTATION(HP:0007419)	[PAH(5053)]
PALLIDAL DEGENERATION(HP:0007132)	[PANK2(80025)]
PALLOR(HP:0000980)	[ALS2(57679), STOM(2040), SETX(23064), FANCD2(2177), FANCA(2175), PUS1(80324), FANCC(2176), FANCE(2178)]
PALLOR OF DORSAL COLUMNS OF THE SPINAL CORD(HP:0006825)	[SETX(23064)]
PALMAR HYPERHIDROSIS(HP:0006089)	[LAMB3(3914), ITGB4(3691), LAMC2(3918), COL17A1(1308), LAMA3(3909)]
PALMAR HYPERKERATOSIS(HP:0010765)	[KRT6B(3854), GJB6(10804), KRT5(3852), KRT6A(3853), KRT1(3848), SLURP1(57152), PTEN(5728), KRT17(3872), GJB2(2706), FERMT1(55612), AAAS(8086), KRT16(3868), DSP(1832), CTSC(1075), KRT14(3861), PVRL1(5818), KRT10(3858), KRT9(3857), PLEC(5339)]
PALMAR PITS(HP:0010610)	[PTCH1(5727)]
PALMOPLANTAR HYPERHIDROSIS(HP:0007410)	[KRT6B(3854), KRT17(3872)]
PALMOPLANTAR HYPERKERATOSIS(HP:0000972)	[KRT6B(3854), GJB6(10804), KRT5(3852), KRT6A(3853), KRT1(3848), SLURP1(57152), PTEN(5728), KRT17(3872), GJB2(2706), FERMT1(55612), AAAS(8086), KRT16(3868), DSP(1832), CTSC(1075), KRT14(3861), PVRL1(5818), KRT10(3858), KRT9(3857), PLEC(5339)]
PALMOPLANTAR KERATODERMA(HP:0000982)	[KRT16(3868), SNAP29(9342), JUP(3728), GJB4(127534), KRT1(3848), TP63(8626), KRT14(3861), WNT10A(80326), LOR(4014), POMP(51371), KRT9(3857), GJB3(2707)]
PALMOPLANTAR KERATODERMA, PATCHY(HP:0005588)	[GJB4(127534), GJB3(2707)]
PALMOPLANTAR KERATOSIS WITH ERYTHEMA AND SCALE(HP:0007548)	[DSP(1832)]
PALPEBRAL FISSURE NARROWING ON ADDUCTION(HP:0000661)	[SALL4(57167)]
PALPITATIONS(HP:0001962)	[CNBP(7555), PKP2(5318), SDHD(6392), SDHC(6391), KCNJ2(3759), SDHB(6390), DSG2(1829), DSC2(1824), ISCU(23479), PRKAG2(51422)]
PALPITATIONS (WITH PHEOCHROMOCYTOMA)(HP:0001676)	[SDHD(6392), SDHC(6391)]
PANCREATIC ADENOCARCINOMA(HP:0006725)	[CDC73(79577)]
PANCREATIC CALCIFICATION(HP:0005213)	[PRSS1(5644), SPINK1(6690)]
PANCREATIC CYSTS(HP:0001737)	[CCND1(595), PKHD1(5314), NPHP3(27031), VHL(7428)]
PANCREATIC HYPERPLASIA(HP:0006277)	[KCNQ1OT1(10984), NSD1(64324), CDKN1C(1028), H19(283120)]
PANCREATIC HYPOPLASIA(HP:0002594)	[PDX1(3651)]
PANCREATIC INSUFFICIENCY(HP:0002581)	[PRSS1(5644), CFTR(1080), SPINK1(6690), HNF1B(6928), SBDS(51119), PDX1(3651), UBR1(197131), CTNS(1497)]
PANCREATIC ISLET CELL ADENOMA(HP:0008261)	[MEN1(4221)]
PANCREATIC ISLET-CELL HYPERTROPHY(HP:0006275)	[FAH(2184)]
PANCREATIC PSEUDOCYSTS(HP:0005206)	[PRSS1(5644), SPINK1(6690)]
PANCREATITIS(HP:0001733)	[BSCL2(26580), PRSS1(5644), SLC37A4(2542), LMNA(4000), G6PC(2538), DLD(1738), CDC73(79577), APOC2(344), MUT(4594), PCCB(5096), BCKDHA(593), SLC7A7(9056), LPL(4023), BCKDHB(594), REG1A(5967), DBT(1629), SPINK1(6690), SLC17A3(10786), AGPAT2(10555), ATP8B1(5205), CBS(875), CASR(846), PCCA(5095)]
PANCREATITIS, ACUTE(HP:0001735)	[BSCL2(26580), LMNA(4000), AGPAT2(10555)]
PANCYTOPENIA(HP:0001876)	[TNFSF11(8600), TINF2(26277), MMAA(166785), SH2D1A(4068), ATR(545), NHP2(55651), LMBRD1(55788), SBDS(51119), HOXA11(3207), FANCD2(2177), FANCC(2176), FANCE(2178), TCIRG1(10312), NOP10(55505), TCN2(6948), MMAB(326625), TERC(7012), TERT(7015), FANCA(2175), DKC1(1736), PSTPIP1(9051), PCCB(5096), MPL(4352), IVD(3712), GBA(2629), PCCA(5095)]
PANHYPOGAMMAGLOBULINEMIA(HP:0003139)	[RFX5(5993), RFXAP(5994), RAG2(5897), DCLRE1C(64421), RAG1(5896), BTK(695), RFXANK(8625), CIITA(4261)]
PANHYPOPITUITARISM(HP:0000871)	[SOX3(6658), GLI3(2737), PROP1(5626)]
PAPILLARY CYSTADENOMA OF THE EPIDIDYMIS(HP:0009715)	[CCND1(595), VHL(7428)]
PAPILLARY LESIONS, GENERALIZED(HP:0007482)	[HR(55806)]
PAPILLARY RENAL CELL CARCINOMA(HP:0006766)	[DIRC2(84925), HRAS(3265), FLCN(201163), HNF1A(6927), OGG1(4968), CDC73(79577), RNF139(11236), VHL(7428)]
PAPILLARY THYROID CARCINOMA(HP:0002895)	[APC(324), PRKAR1A(5573), CCDC6(8030), NCOA4(8031), TRIM24(8805), JAG1(182), GOLGA5(9950), PCM1(5108), TRIM33(51592)]
PAPILLEDEMA(HP:0001085)	[IDS(3423)]
PARADOXICAL INCREASED CORTISOL SECRETION ON DEXAMETHASONE SUPPRESSION TEST(HP:0003466)	[PDE11A(50940), PRKAR1A(5573)]
PARAGANGLIOMAS(HP:0002668)	[SDHD(6392), SDHC(6391), SDHB(6390), SDHAF2(54949)]
PARAGANGLIOMAS, HEAD AND NECK(HP:0002864)	[SDHD(6392), SDHC(6391), SDHB(6390), SDHAF2(54949)]
PARAKERATOSIS(HP:0001036)	[CLDN1(9076), NSDHL(50814), POMP(51371)]
PARALYSIS(HP:0003470)	[HSPB1(3315), POLG(5428), WNK4(65266), WNK1(65125), GM2A(2760), FAH(2184), CA2(760), HMBS(3145), SLC2A1(6513), HSPB8(26353), KCNJ2(3759), PMP22(5376), CACNA1S(779), SLC4A1(6521), ALAD(210)]
PARALYSIS DUE TO LESIONS OF THE PRINCIPLE MOTOR TRACTS(HP:0010549)	[PRNP(5621), ATP1A2(477), SQSTM1(8878), SCN1A(6323), GJB1(2705), CACNA1A(773), GJA1(2697), SLC2A1(6513), DOCK8(81704), NF1(4763), TREX1(11277), COL4A1(1282), CFH(3075), TNFRSF11A(8792), TUBB2B(347733)]
PARALYTIC ILEUS(HP:0002590)	[FAH(2184), HMBS(3145)]
PARAPARESIS(HP:0002385)	[SQSTM1(8878), GJA1(2697), NF1(4763), TNFRSF11A(8792), GJB1(2705)]
PARAPLEGIA/PARAPARESIS(HP:0010551)	[SQSTM1(8878), GJA1(2697), NF1(4763), TNFRSF11A(8792), GJB1(2705)]
PARATHYROID ABSENCE(HP:0008211)	[DGCR(1714), TBX1(6899)]
PARATHYROID ADENOMA(HP:0002897)	[RET(5979), CCND1(595), NF1(4763), CDC73(79577), MEN1(4221)]
PARATHYROID CARCINOMA(HP:0006780)	[CDC73(79577)]
PARATHYROID HORMONE ABSENT TO LOW(HP:0008292)	[PTH1R(5745)]
PARATHYROID HYPERPLASIA(HP:0008208)	[RET(5979)]
PARATHYROID HYPOPLASIA(HP:0000860)	[DGCR(1714), TBX1(6899), SEMA3E(9723), CHD7(55636)]
PARESIS OF EXTENSOR MUSCLES OF THE BIG TOE IS PRESENTING SYMPTOM(HP:0002601)	[HSPB1(3315), HSPB8(26353)]
PARESTHESIA(HP:0003401)	[AMN(81693), CACNA1A(773), SLC12A3(6559), MTHFR(4524), HMBS(3145), SLC12A1(6557), CUBN(8029), KCNJ1(3758), GIF(2694), ALAD(210)]
PARIETAL BOSSING(HP:0000242)	[PTPN11(5781), ALX4(60529), MSX2(4488), GJA1(2697), RUNX2(860)]
PARIETAL FORAMINA(HP:0002697)	[EP300(2033), MSX2(4488), TWIST1(7291), CREBBP(1387), FGFR2(2263)]
PARKINSONISM(HP:0001300)	[ATP1A3(478), PRNP(5621), TH(7054), TAF1(6872), UCHL1(7345), FBXO7(25793), APP(351), MAPT(4137), APOE(348), MECP2(4204), POLG(5428), DCTN1(1639), PINK1(65018), PSEN1(5663), LRRK2(120892), ATXN3(4287), PARK2(5071), FTL(2512), PPP2R2B(5521), VPS13A(23230), TBP(6908), ATP13A2(23400), C10orf2(56652), SNCA(6622), PANK2(80025), CLN3(1201), GRN(2896), SNCB(6620), DBH(1621), DYT3(1863)]
PARONYCHIA(HP:0001818)	[WNK1(65125), SLC39A4(55630)]
PAROXYSMAL ATRIAL FIBRILLATION(HP:0004757)	[PRKAG2(51422)]
PAROXYSMAL BURSTS OF LAUGHTER(HP:0000749)	[ATRX(546), CDKL5(6792), ANCR(282), MECP2(4204), UBE3A(7337)]
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA(HP:0004818)	[PIGA(5277)]
PAROXYSMAL SUPRAVENTRICULAR TACHYCARDIA(HP:0004763)	[PRKAG2(51422)]
PAROXYSMAL VENTRICULAR TACHYCARDIA(HP:0004751)	[GNAI2(2771)]
PARTIAL ABSENCE OF LOWER EYELASHES(HP:0007776)	[TCOF1(6949)]
PARTIAL AGENESIS OF THE CORPUS CALLOSUM(HP:0001338)	[MED12(9968), FAM123B(139285), L1CAM(3897), LRP2(4036), NSD1(64324), PDHX(8050)]
PARTIAL ALBINISM(HP:0007443)	[AP3B1(8546), SNAI2(6591), COL4A1(1282), TYRP1(7306), PAX3(5077)]
PARTIAL COMPLEMENT FACTOR H DEFICIENCY(HP:0008290)	[CFH(3075)]
PARTIAL DEFICIENCY OF FACTOR XII:C(HP:0008286)	[PTPN11(5781)]
PARTIAL DEFICIENCY OF FACTOR XIII:C(HP:0008357)	[PTPN11(5781)]
PARTIAL DEVELOPMENT OF THE PENILE SHAFT(HP:0008708)	[TSPYL1(7259)]
PARTIAL DUPLICATION OF THE DISTAL PHALANGES OF THE HAND(HP:0010004)	[CANT1(124583)]
PARTIAL DUPLICATION OF THE DISTAL PHALANX OF THE HALLUX(HP:0010097)	[CANT1(124583)]
PARTIAL DUPLICATION OF THE PHALANGES OF THE HALLUX(HP:0010101)	[CANT1(124583)]
PARTIAL DUPLICATION OF THE PHALANGES OF THE HAND(HP:0009999)	[SALL1(6299), FGF10(2255), TBX5(6910), FGFR3(2261), CANT1(124583)]
PARTIAL DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009944)	[SALL1(6299), FGF10(2255), TBX5(6910), FGFR3(2261), CANT1(124583)]
PARTIAL FUNCTIONAL COMPLEMENT FACTOR D DEFICIENCY(HP:0008338)	[CFD(1675)]
PARTIAL FUSION OF CARPALS(HP:0006207)	[FLNA(2316)]
PARTIAL FUSION OF TARSALS(HP:0008097)	[FLNA(2316)]
PARTIAL LARYNGEAL ATRESIA(HP:0005950)	[FRAS1(80144), FREM2(341640)]
PARTIAL OR COMPLETE ABSENCE OF CEREBELLAR VERMIS(HP:0002951)	[ZIC1(7545), ZIC4(84107), SACS(26278)]
PARTIAL SEIZURES(HP:0007359)	[LGI1(9211), GABRG2(2566), CLN8(2055), SCN1A(6323), EPM2A(7957), TSC1(7248), NHLRC1(378884), SCN2A(6326), CHRNA4(1137)]
PARTIAL TO TOTAL ABSENCE OF PERMANENT TEETH(HP:0006287)	[MSX1(4487)]
PARTIAL-TOTAL ABSENCE OF LOWER EYELASHES(HP:0007785)	[TCOF1(6949)]
PARTIAL-TOTAL RETINAL DETACHMENT(HP:0008021)	[FZD4(8322)]
PARTIAL/COMPLETE DUPLICATION OF PHALANGES OF THE HAND(HP:0009997)	[EP300(2033), TWIST1(7291), BBS5(129880), TRIM32(22954), ARL6(84100), SALL4(57167), TGFBR1(7046), TBX3(6926), LMBR1(64327), FLNA(2316), GLI3(2737), ALX3(257), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), FANCE(2178), BBS9(27241), SC5DL(6309), CANT1(124583), BMP4(652), SALL1(6299), GPC3(2719), TMEM216(51259), BLM(641), ROR2(4920), LBR(3930), MKS1(54903), MIPOL1(145282), CREBBP(1387), RAB23(51715), MKKS(8195), CD96(10225), EVC2(132884), FGFR3(2261), GDF5(8200), INPP5E(56623), CEP290(80184), FGFR2(2263), BBS12(166379), FGF10(2255), DHCR7(1717), HOXA13(3209), WNT7A(7476), EVC(2121), TTC8(123016), TBX5(6910), BBS1(582), BBS2(583), FANCA(2175), BBS4(585), PORCN(64840), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), BBS10(79738), OFD1(8481), HOXD13(3239), BBS7(55212), CHD7(55636)]
PARTIAL/COMPLETE DUPLICATION OF PHALANGES OF THE THUMB(HP:0009942)	[SALL1(6299), FGF10(2255), TBX5(6910), FANCD2(2177), FANCA(2175), FGFR3(2261), FANCC(2176), LMBR1(64327), FANCE(2178), CANT1(124583), GLI3(2737)]
PARTIAL/COMPLETE DUPLICATION OF THE DISTAL PHALANGES OF THE HAND(HP:0009883)	[TWIST1(7291), FGFR2(2263), ROR2(4920), CANT1(124583)]
PARTIAL/COMPLETE DUPLICATION OF THE DISTAL PHALANGES OF THE TOES(HP:0010193)	[CANT1(124583)]
PARTIAL/COMPLETE DUPLICATION OF THE DISTAL PHALANX OF THE HALLUX(HP:0010084)	[CANT1(124583)]
PARTIAL/COMPLETE DUPLICATION OF THE DISTAL PHALANX OF THE THUMB(HP:0009612)	[CANT1(124583)]
PARTIAL/COMPLETE DUPLICATION OF THE PHALANGES OF THE HALLUX(HP:0010066)	[LMBR1(64327), HYLS1(219844), CANT1(124583), GLI3(2737)]
PARTIAL/COMPLETE DUPLICATION OF THE PHALANGES OF THE TOES(HP:0010181)	[LMBR1(64327), HYLS1(219844), CANT1(124583), GLI3(2737)]
PATCHY ALOPECIA(HP:0002232)	[IKBKG(8517), TP63(8626), PORCN(64840)]
PATCHY ATROPHY OF THE RETINAL PIGMENT EPITHELIUM(HP:0007791)	[RBP4(5950)]
PATCHY CHANGES OF BONE MINERAL DENSITY(HP:0010658)	[LBR(3930), TBCE(6905)]
PATCHY DEMYELINATION OF SUBCORTICAL WHITE MATTER(HP:0002545)	[ERCC8(1161), ERCC6(2074)]
PATCHY INCREASED AND DECREASED BONE MINERAL DENSITY(HP:0010659)	[LBR(3930)]
PATCHY OSTEOSCLEROSIS(HP:0005686)	[TBCE(6905)]
PATELLAR APLASIA(HP:0006443)	[TBX4(9496), CHRNG(1146), WNT7A(7476)]
PATELLAR HYPOPLASIA(HP:0003065)	[TBX4(9496), RECQL4(9401)]
PATENT DUCTUS ARTERIOSUS(HP:0001643)	[MYCN(4613), FBN1(2200), PEX19(5824), EP300(2033), FBN2(2201), CD96(10225), PEX5(5830), ZEB2(9839), TGFBR1(7046), NSD1(64324), STRA6(64220), TSFM(10102), DPM1(8813), ZMPSTE24(10269), FLNA(2316), GLI3(2737), PTPN11(5781), DHCR24(1718), ESCO2(157570), DHCR7(1717), SOX2(6657), DGCR(1714), ZIC3(7547), NPHP3(27031), PEX26(55670), FOXC2(2303), GPC3(2719), TBX5(6910), PEX10(5192), PEX14(5195), PEX13(5194), TBX1(6899), PEX1(5189), TP63(8626), PEX3(8504), TFAP2B(7021), MKS1(54903), HOXD13(3239), FAM123B(139285), CREBBP(1387), MRPS16(51021), RAB23(51715)]
PATENT FORAMEN OVALE(HP:0001655)	[PTPN11(5781), SOS1(6654), TSFM(10102)]
PATERNAL ANTICIPATION BIAS(HP:0003744)	[ATXN7(6314), ATXN1(6310)]
PATHOLOGIC CHANGES IN ANTERIOR HORN CELLS AND LATERAL CORTICOSPINAL TRACTS(HP:0007254)	[SOD1(6647)]
PATHOLOGIC FRACTURE(HP:0002756)	[GNAS(2778), AGA(175), OCRL(4952), GK(2710), LRP5(4041), UROS(7390), LIFR(3977), GBA(2629), AGXT(189), TREM2(54209), TYROBP(7305), PTH1R(5745), TNFRSF11A(8792), GNPTAB(79158), SLC4A1(6521), TCIRG1(10312), SC5DL(6309)]
PATTERN VISUAL EVOKED POTENTIALS SHOW REDUCED AMPLITUDE(HP:0000650)	[OPA1(4976)]
PAUCITY OF ANTERIOR HORN MOTOR NEURONS(HP:0007277)	[GLE1(2733)]
PEAK AGE OF ONSET IN SECOND DECADE (RANGE CHILDHOOD TO 50 YEARS)(HP:0003668)	[MFN2(9927), KIF1B(23095)]
PEAR-SHAPED NOSE(HP:0000447)	[TRPS1(7227)]
PEAR-SHAPED VERTEBRAE(HP:0004566)	[MMP13(4322)]
PECTORAL MUSCLE HYPOPLASIA/APLASIA(HP:0005258)	[ALX3(257), TBX5(6910), SALL4(57167)]
PECTORALIS HYPOPLASIA(HP:0008998)	[SALL4(57167)]
PECTORALIS MAJOR MUSCLE HYPOPLASIA(HP:0008953)	[SALL4(57167)]
PECTUS CARINATUM(HP:0000768)	[FBN1(2200), HSPG2(3339), FBN2(2201), TRPS1(7227), GUSB(2990), UPF3B(65109), ZEB2(9839), RPS6KA3(6197), EVC2(132884), BRAF(673), PLOD2(5352), FLNB(2317), PTPN11(5781), MAP2K1(5604), MAP2K2(5605), HRAS(3265), COL2A1(1280), PPIB(5479), IHH(3549), EVC(2121), TNNT1(7138), KRAS(3845), TRPV4(59341), RAB3GAP2(25782), GNPTG(84572), MAN2B1(4125), ATP7A(538)]
PECTUS CARINATUM SUPERIORLY(HP:0000917)	[PTPN11(5781)]
PECTUS CARINATUM, SEVERE(HP:0006639)	[TNNT1(7138)]
PECTUS EXCAVATUM(HP:0000767)	[FBN1(2200), RET(5979), EFEMP2(30008), RPS6KA3(6197), CCBE1(147372), HSD17B4(3295), FLNA(2316), BRAF(673), FLNB(2317), SLC16A2(6567), MAP2K1(5604), MAP2K2(5605), NOG(9241), PPIB(5479), IHH(3549), FMR1(2332), GPC3(2719), CRTAP(10491), PTEN(5728), B3GALTL(145173), ROR2(4920), DDR2(4921), RAB3GAP2(25782), GJA1(2697), COL1A2(1278), PDHX(8050), MGAT2(4247), ATP7A(538), UPF3B(65109), ZEB2(9839), FGFR3(2261), LOX(4015), LMX1B(4010), PTPN11(5781), MED12(9968), SOS1(6654), FBLN5(10516), IGBP1(3476), FGD1(2245), IGF1R(3480), COL2A1(1280), CBS(875), PQBP1(10084), ADAMTSL2(9719), KRAS(3845), EFNB1(1947), KDM5C(8242), CUL7(9820), SMS(6611)]
PECTUS EXCAVATUM INFERIORLY(HP:0000915)	[PTPN11(5781)]
PEG-SHAPED INCISORS(HP:0000673)	[FGF10(2255), CCBE1(147372), FGFR3(2261)]
PELVIC EXOSTOSES(HP:0003276)	[EXT2(2132), EXT1(2131), ATP7A(538)]
PELVIC GIRDLE MUSCLE ATROPHY(HP:0008988)	[TRIM32(22954), SGCB(6443)]
PELVIC GIRDLE MUSCLE WEAKNESS(HP:0003749)	[VCP(7415), FKRP(79147), LMNA(4000), TRIM32(22954)]
PELVIC GIRDLE WEAKNESS AND ATROPHY(HP:0008946)	[VCP(7415)]
PELVIC KIDNEY(HP:0000125)	[STRA6(64220)]
PEPTIC ULCER(HP:0004398)	[APOA1(335)]
PERCUSSION-INDUCED RAPID ROLLING MUSCLE CONTRACTIONS (PIRC)(HP:0003760)	[CAV3(859)]
PERIANAL ABSCESS(HP:0009789)	[MNX1(3110)]
PERIAPICAL RADIOLUCENCIES(HP:0000700)	[DSPP(1834)]
PERIARTICULAR SUBCUTANEOUS NODULES(HP:0007470)	[ASAH1(427)]
PERICARDIAL CONSTRICTION(HP:0005132)	[TRIM37(4591)]
PERICARDIAL EFFUSION(HP:0001698)	[MYBPC3(4607), LMNA(4000), CCBE1(147372), PMM2(5373)]
PERICARDIAL LYMPHANGIECTASIA(HP:0005183)	[CCBE1(147372)]
PERICARDITIS(HP:0001701)	[MEFV(4210), PRG4(10216)]
PERICENTRAL PIGMENTARY RETINOPATHY(HP:0007852)	[MKKS(8195)]
PERICENTRAL SCOTOMAS(HP:0007761)	[PRPH2(5961)]
PERIFOLLICULAR HYPERKERATOSIS(HP:0007468)	[KRT81(3887), KRT86(3892), KRT83(3889)]
PERINEAL FISTULA(HP:0004871)	[RECQL4(9401)]
PERINEAL HYPOSPADIAS(HP:0000051)	[SRD5A2(6716), AR(367)]
PERIODIC HYPOKALEMIC PARESIS(HP:0008153)	[CA2(760)]
PERIODIC PARALYSIS(HP:0003768)	[WNK1(65125), FAH(2184), CA2(760), KCNJ2(3759), SLC4A1(6521), WNK4(65266)]
PERIODONTAL DISEASE(HP:0000704)	[SLC35C1(55343), FERMT1(55612), ITGB2(3689), AP3B1(8546), CTSC(1075), PLG(5340), COL3A1(1281)]
PERIODONTITIS(HP:0000165)	[SLC35C1(55343), ITGB2(3689), AP3B1(8546), CTSC(1075), PLG(5340)]
PERIORBITAL FULLNESS(HP:0000629)	[FGF10(2255), FGFR3(2261), GNE(10020)]
PERIORBITAL HYPERPIGMENTATION(HP:0001106)	[EDA(1896), EDAR(10913), EDARADD(128178)]
PERIORBITAL WRINKLES(HP:0000607)	[EDA(1896), EDAR(10913), EDARADD(128178)]
PERIPAPILLARY CHORIORETINAL ATROPHY(HP:0007950)	[TEAD1(7003)]
PERIPHERAL ARTERIAL DISEASE(HP:0004950)	[ELN(2006), ABCC6(368), AGXT(189), APOE(348)]
PERIPHERAL ARTERIAL STENOSIS(HP:0004928)	[ELN(2006)]
PERIPHERAL CORNEAL OPACITIES(HP:0008011)	[MMP2(4313)]
PERIPHERAL MOTOR NEUROPATHY, SEVERE(HP:0007278)	[SLC12A6(9990)]
PERIPHERAL NERVE COMPRESSION(HP:0003406)	[EXT2(2132), EXT1(2131)]
PERIPHERAL NEUROEPITHELIOMA(HP:0006717)	[EWSR1(2130)]
PERIPHERAL NEUROPATHY(HP:0009830)	[SH3TC2(79628), MYOT(9499), SCN9A(6335), CPOX(1371), ATXN8(724066), SACS(26278), SETX(23064), GAN(8139), GJC2(57165), EDNRB(1910), ATXN8OS(6315), FAH(2184), GCLC(2729), RAB7A(7879), TYMP(1890), ATXN2(6311), SBF2(81846), NIPA1(123606), YARS(8565), LYST(1130), HSPB1(3315), KIF1B(23095), KIF5A(3798), PEX1(5189), GJB1(2705), C10orf2(56652), CACNA1A(773), MPZ(4359), SLC12A3(6559), MPV17(4358), LITAF(9516), SLC12A1(6557), RAI1(10743), ATP7B(540), SLC12A6(9990), NAGA(4668), GIF(2694), MANBA(4126), SAR1B(51128), LMNA(4000), NDRG1(10397), POLG(5428), FGF14(2259), PRPS2(5634), PSAP(5660), MED25(81857), HSPB8(26353), CYP27A1(1593), KCNJ1(3758), FUCA1(2517), PEX26(55670), BSCL2(26580), SMCR(6600), TRPV4(59341), WNK1(65125), SNAP29(9342), PMP22(5376), AR(367), LDB3(11155), ARSA(410), AMN(81693), SLC25A15(10166), PEX2(5828), NEFL(4747), CCT5(22948), PRPS1(5631), SPG7(6687), ERCC6(2074), KIAA0196(9897), GARS(2617), SPAST(6683), SOX10(6663), TTR(7276), MTHFR(4524), ATXN3(4287), HMBS(3145), CUBN(8029), FAM126A(84668), PMM2(5373), DNM2(1785), GALC(2581), SPG11(80208), VPS13A(23230), MTMR2(8898), FGD4(121512), SPTBN2(6712), PRX(57716), PRKCG(5582), ERCC8(1161), CYP7B1(9420), HSPD1(3329), EGR2(1959), DGUOK(1716), GSN(2934), GDAP1(54332), ABCD1(215), FXN(2395), ALAD(210), MFN2(9927), CLCF1(23529), SERPING1(710), APTX(54840), SPTLC1(10558)]
PERIPHERAL NEUROPATHY, MILD(HP:0007235)	[TTR(7276), GJC2(57165)]
PERIPHERAL NEUTROPENIA(HP:0005533)	[CXCR4(7852)]
PERIPHERAL POLYNEUROPATHY, ESP VIBRATION AND TOUCH LOSS(HP:0007287)	[GSN(2934)]
PERIPHERAL PULMONARY ARTERY STENOSIS(HP:0004969)	[JAG1(182)]
PERIPHERAL PULMONARY STENOSIS(HP:0004957)	[MGP(4256)]
PERIPHERAL PULMONARY VESSEL APLASIA(HP:0005316)	[WNT3(7473)]
PERIPHERAL RETINAL AVASCULARIZATION(HP:0007685)	[FZD4(8322), LRP5(4041)]
PERIPHERAL RETINAL PIGMENTATION ABNORMALITIES(HP:0007741)	[GSS(2937)]
PERIPHERAL RETINOPATHY(HP:0007869)	[CTNS(1497)]
PERIPHERAL SCHWANNOMA(HP:0009593)	[NF2(4771)]
PERIPHERAL SENSORY NEUROPATHY, DISTAL(HP:0007067)	[SPG11(80208)]
PERIPHERAL SENSORY NEUROPATHY, SEVERE(HP:0006815)	[SLC12A6(9990)]
PERIPHERAL THROMBOSIS(HP:0002641)	[VHL(7428)]
PERIPHERAL TRACTION RETINAL DETACHMENT(HP:0007643)	[VCAN(1462)]
PERIPHERAL VASCULAR INSUFFICIENCY(HP:0005309)	[AGXT(189)]
PERIPHERAL VISUAL FIELD LOSS(HP:0007994)	[PRPH2(5961), CRX(1406), GUCY2D(3000)]
PERIPHERAL VITREOUS OPACITIES(HP:0007710)	[NDP(4693)]
PERIPORTAL FIBROSIS(HP:0001405)	[DGUOK(1716), MPV17(4358), PKHD1(5314), C10orf2(56652)]
PERIRECTAL ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0002567)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
PERITONITIS(HP:0002586)	[MEFV(4210)]
PERIVENTRICULAR CYSTS(HP:0007109)	[ZIC1(7545), ZIC4(84107), OCRL(4952)]
PERIVENTRICULAR GRAY MATTER HETEROTOPIAS(HP:0007165)	[DHCR7(1717), MCPH1(79648)]
PERIVENTRICULAR LEUKOMALACIA(HP:0006970)	[TREX1(11277), PC(5091)]
PERIVENTRICULAR WHITE MATTER CHANGES(HP:0002518)	[SPG11(80208), ZIC1(7545), MAPK10(5602), ZIC4(84107), TREX1(11277), OCRL(4952), PC(5091)]
PEROMELIA(HP:0009828)	[LMBR1(64327)]
PERONEAL MUSCLE ATROPHY(HP:0009049)	[DES(1674)]
PERSEVERATIVE BEHAVIOR(HP:0008759)	[NPC2(10577)]
PERSISTANT TRUNCUS ARTERIOSUS(HP:0001660)	[DGCR(1714), TBX1(6899), STRA6(64220)]
PERSISTENCE OF DECIDUOUS TEETH(HP:0006341)	[TNFSF11(8600), BCOR(54880), KCNJ2(3759), PTH1R(5745), CTSK(1513), FLNA(2316)]
PERSISTENT BLEEDING AFTER TRAUMA(HP:0001934)	[VWF(7450), GP1BA(2811), PTGS1(5742), SERPINF2(5345), F11(2160), GATA1(2623), F9(2158), F8(2157)]
PERSISTENT CAVUM SEPTUM PELLUCIDUM(HP:0006884)	[NSD1(64324)]
PERSISTENT HYPERPLASIA OF PRIMARY VITREOUS(HP:0007968)	[BCOR(54880)]
PERSISTENT OPEN ANTERIOR FONTANELLE(HP:0004474)	[CTSK(1513), ATP7A(538)]
PERSISTENT OR INTERMITTENT NEUTROPENIA(HP:0005515)	[SBDS(51119)]
PERSONALITY CHANGES(HP:0000751)	[PRNP(5621), CHMP2B(25978), UCHL1(7345), VPS13A(23230), TBP(6908), MAPT(4137), HTT(3064), EIF2B2(8892), EIF2B5(8893), PSEN1(5663), GRN(2896), EIF2B4(8890), TREM2(54209), EIF2B3(8891), TYROBP(7305), ATP7B(540), EIF2B1(1967), DBH(1621)]
PES CAVUS(HP:0001761)	[FBN1(2200), SH3TC2(79628), RET(5979), SACS(26278), NEFL(4747), SETX(23064), GAN(8139), NSD1(64324), PRPS1(5631), SPG7(6687), PLP1(5354), KIAA0196(9897), GARS(2617), IDS(3423), SOX10(6663), RAB7A(7879), DNM2(1785), SBF2(81846), NIPA1(123606), HSPB1(3315), KIF1B(23095), SPG11(80208), KIF5A(3798), FGD4(121512), B3GALTL(145173), GJB1(2705), SLC6A8(6535), GJB2(2706), PRX(57716), LBR(3930), MPZ(4359), LITAF(9516), LAMP2(3920), ATP7A(538), CTDP1(9150), ZFYVE26(23503), LMNA(4000), MECP2(4204), POLG(5428), FGF14(2259), SPG20(23111), EGR2(1959), CUL4B(8450), L1CAM(3897), HSPB8(26353), GDAP1(54332), FXN(2395), PQBP1(10084), BSCL2(26580), MFN2(9927), KAL1(3730), TRPV4(59341), MMP2(4313), GBA(2629), APTX(54840), PMP22(5376), TPM3(7170)]
PES PLANUS(HP:0001763)	[FBN1(2200), HSPG2(3339), PLOD1(5351), TBX4(9496), EP300(2033), TRPS1(7227), RYR1(6261), ATRX(546), ATR(545), RPS6KA3(6197), SALL4(57167), NSD1(64324), GAN(8139), FLNA(2316), B4GALT7(11285), GARS(2617), LMX1B(4010), SLC16A2(6567), FLNB(2317), COL5A2(1290), COL5A1(1289), CRLF1(9244), RAB7A(7879), COL2A1(1280), FMR1(2332), BSCL2(26580), VPS13B(157680), SEC23A(10484), MMP2(4313), ATP6V0A2(23545), ALMS1(7840), CREBBP(1387), SIL1(64374), COL1A2(1278), CTSC(1075), COL1A1(1277), MGAT2(4247), ATP7A(538)]
PETECHIAE(HP:0000967)	[GP1BA(2811), TBXAS1(6916), WAS(7454), GBA(2629), HOXA11(3207), TREX1(11277), GATA1(2623), ETHE1(23474)]
PETERS ANOMALY(HP:0000659)	[FKRP(79147), FKTN(2218), GJA8(2703), LARGE(9215), B3GALTL(145173), POMT1(10585), POMT2(29954)]
PH-POSITIVE ACUTE LYMPHOBLASTIC LEUKEMIA(HP:0004848)	[BCR(613)]
PHALANGEAL DISLOCATIONS(HP:0006243)	[CANT1(124583)]
PHENOTYPIC VARIABILITY(HP:0003812)	[SH3TC2(79628), PGK1(5230), FKRP(79147), SCN4A(6329), AUH(549), DCX(1641), ATRX(546), NAGS(162417), SETX(23064), SALL4(57167), MAPT(4137), MCCC1(56922), GLI3(2737), SLC7A7(9056), LRRK2(120892), NPC1(4864), COQ2(27235), PTCH1(5727), UQCRB(7381), TK2(7084), CHRNA1(1134), ACADS(35), NIPA1(123606), TMEM216(51259), NKX2-1(7080), DCAF17(80067), GJB1(2705), C10orf2(56652), PFKM(5213), CACNA1A(773), C20orf7(79133), MPZ(4359), CHRNE(1145), CHRND(1144), ACTA1(58), ALDH5A1(7915), CHRNB1(1140), CACNA1S(779), FH(2271), PDHA1(5160), RAPSN(5913), KRIT1(889), SDHA(6389), INPP5E(56623), BCS1L(617), FGFR2(2263), MECP2(4204), FGF23(8074), POLG(5428), TSFM(10102), PSAP(5660), PDSS2(57107), COL6A1(1291), SERPINA6(866), PSEN1(5663), ATXN10(25814), NDUFA1(4694), COL6A2(1292), COL6A3(1293), COL4A1(1282), PDSS1(23590), ACY1(95), NEB(4703), OPA1(4976), LMNB2(84823), GNAS(2778), NDUFA11(126328), DRD2(1813), NDUFAF4(29078), PCSK1(5122), NDUFS1(4719), NIPBL(25836), TRPV4(59341), NDUFV1(4723), NDUFS2(4720), PCDH19(57526), HADH(3033), NDUFS6(4726), NDUFS4(4724), PMP22(5376), SDHAF1(644096), SMPD1(6609), SLC25A15(10166), LGI1(9211), ATL1(51062), TWIST1(7291), TRIM32(22954), NEFL(4747), PRODH(5625), PLP1(5354), NDUFAF2(91942), SPAST(6683), BUB1B(701), NPC2(10577), HNF1B(6928), TTN(7273), UQCRQ(27089), ANO5(203859), FMR1(2332), LAMB2(3913), NDUFAF3(25915), SGCE(8910), TSHR(7253), SRD5A2(6716), TSC1(7248), NF2(4771), TSC2(7249), PRX(57716), PRKCG(5582), CRELD1(78987), PDHX(8050), LAMP2(3920), ATP1A3(478), ZFYVE26(23503), RYR1(6261), ATP1A2(477), FLCN(201163), MUSK(4593), EYA1(2138), EGR2(1959), PPT1(5538), NME1(4830), CFH(3075), CLCN1(1180), PAK3(5063), PITX2(5308), COQ9(57017), SHH(6469), PHEX(5251), CLCN5(1184), MFN2(9927), DES(1674), GBA(2629), APTX(54840), MNX1(3110), CABC1(56997)]
PHENYLALANINE HYDROXYLASE DEFICIENCY(HP:0005982)	[PAH(5053)]
PHENYLPYRUVIC ACIDEMIA(HP:0004920)	[PAH(5053)]
PHEOCHROMOCYTOMA(HP:0002666)	[RET(5979), CCND1(595), PRKAR1A(5573), KIF1B(23095), NF1(4763), SDHD(6392), SDHC(6391), SDHB(6390), VHL(7428)]
PHEOCHROMOCYTOMA, ADRENAL(HP:0006748)	[SDHD(6392), SDHC(6391), SDHB(6390)]
PHEOCHROMOCYTOMA, EXTRAADRENAL(HP:0006737)	[SDHD(6392), SDHC(6391), SDHB(6390)]
PHIMOSIS(HP:0001741)	[FERMT1(55612), DSP(1832), DKC1(1736)]
PHOCOMELIA(HP:0009829)	[TBX5(6910), WNT7A(7476), NIPBL(25836)]
PHONOPHOBIA(HP:0002183)	[EDNRA(1909)]
PHOSPHOETHANOLAMINURIA(HP:0003239)	[ALPL(249)]
PHOSPHOLIPID ANTIBODY POSITIVE(HP:0003613)	[FAS(355), CASP10(843)]
PHOTOPHOBIA(HP:0000613)	[PITPNM3(83394), GJB6(10804), DDB2(1643), RPGR(6103), ERCC2(2068), TACSTD2(4070), CNGB3(54714), SCN1A(6323), MAPT(4137), TGFBI(7045), ERCC6(2074), EDNRA(1909), POLH(5429), CTNS(1497), GUCA1A(2978), GPR143(4935), GUCY2D(3000), MITF(4286), FOXC2(2303), ST14(6768), CHST6(4166), LYST(1130), TP63(8626), CNGA3(1261), TIMM8A(1678), MCOLN1(57192), GJB2(2706), ALDH3A2(224), NR2E3(10002), TYR(7299), AP3B1(8546), ALMS1(7840), MBTPS2(51360), CNNM4(26504), RPE65(6121), XPC(7508), XPA(7507)]
PHOTOSENSITIVITY(HP:0000992)	[DDB2(1643), SNRPN(6638), CPOX(1371), ERCC2(2068), PPOX(5498), ERCC3(2071), ERCC8(1161), UROD(7389), TP63(8626), ERCC4(2072), UROS(7390), ERCC6(2074), BLM(641), NHLRC1(378884), POLH(5429), FERMT1(55612), GTF2H5(404672), DHCR7(1717), NDN(4692), C4A(720), RECQL4(9401), XPC(7508), EPM2A(7957), XPA(7507)]
PHTHISIS BULBI(HP:0000667)	[COL18A1(80781), LRP5(4041)]
PIERRE-ROBIN SEQUENCE(HP:0000201)	[FAM123B(139285), TBX1(6899), COL2A1(1280), COL11A2(1302), COL11A1(1301)]
PIGMENTARY RETINAL DEGENERATION(HP:0001146)	[ATXN7(6314), NR2E3(10002)]
PIGMENTARY RETINOPATHY(HP:0000580)	[PEX19(5824), NDUFS7(374291), MKKS(8195), WFS1(7466), RPGR(6103), HCCS(3052), RP2(6102), PEX5(5830), ERCC3(2071), ERCC8(1161), SDHA(6389), BCS1L(617), ERCC6(2074), GUCY2D(3000), COX15(1355), AHI1(54806), NDUFA2(4695), PEX26(55670), C8orf38(137682), RHO(6010), BEST1(7439), PEX10(5192), COX6B1(1340), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), DLD(1738), SURF1(6834), MMACHC(25974), NR2E3(10002), ACOX1(51), NDUFS3(4722), NDUFV1(4723), HADHB(3032), PANK2(80025), ALMS1(7840), FASTKD2(22868), NDUFS4(4724), RPE65(6121), NDUFS8(4728), HADHA(3030)]
PIGMENTATION ANOMALIES OF SUN-EXPOSED SKIN(HP:0007623)	[ERCC6(2074)]
PIGMENTATION OF THE SCLERA(HP:0007832)	[HGD(3081)]
PIGMENTED MACULAR DEGENERATION(HP:0007694)	[ZFYVE26(23503)]
PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE(HP:0001580)	[PDE11A(50940), PRKAR1A(5573)]
PIGMENTED NEVI(HP:0000995)	[BLOC1S3(388552), HPS3(84343), HPS4(89781), PIK3CA(5290), FGFR3(2261), HPS5(11234), HPS1(3257), HPS6(79803), KRT10(3858), DTNBP1(84062)]
PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY(HP:0007903)	[CRB1(23418)]
PILI CANALICULI(HP:0002235)	[TP63(8626)]
PILI TORTI(HP:0003777)	[CDH3(1001), ST14(6768), KRT85(3891), HR(55806)]
PINCHED NOSE(HP:0000418)	[LMNA(4000), ZMPSTE24(10269)]
PITUITARY ADENOMA(HP:0002893)	[SSTR5(6755), GNAS(2778), PRKAR1A(5573), AIP(9049), CDKN1B(1027), MEN1(4221)]
PITUITARY DWARFISM(HP:0000839)	[LHX4(89884), SOX3(6658), GH1(2688)]
PITUITARY GONADOTROPIN DEFICIENCY(HP:0008213)	[GNRH1(2796)]
PITUITARY RESISTANCE TO THYROID HORMONE(HP:0008227)	[THRB(7068)]
PLACENTAL ENLARGEMENT(HP:0006267)	[MKS1(54903)]
PLAGIOCEPHALY(HP:0001357)	[PEX19(5824), BMP4(652), TWIST1(7291), DYNC2H1(79659), PEX10(5192), PEX14(5195), PEX5(5830), PEX13(5194), PEX1(5189), ANCR(282), FGFR3(2261), FGFR2(2263), PEX3(8504), MECP2(4204), DPM1(8813), MED12(9968), CDKL5(6792), UBE3A(7337), MAN2B1(4125), PEX26(55670)]
PLAGIOCEPHALY (ASYMMETRY OF ORBITS)(HP:0001121)	[TWIST1(7291), FGFR2(2263)]
PLANTAR CREASE BETWEEN FIRST AND SECOND TOES(HP:0008107)	[EP300(2033), CREBBP(1387)]
PLANTAR HYPERKERATOSIS(HP:0007556)	[KRT6B(3854), LAMB3(3914), GJB6(10804), KRT5(3852), KRT6A(3853), LAMC2(3918), KRT1(3848), SLURP1(57152), COL17A1(1308), PTEN(5728), KRT17(3872), GJB2(2706), LAMA3(3909), FERMT1(55612), AAAS(8086), ITGB4(3691), KRT16(3868), DSP(1832), CTSC(1075), KRT14(3861), PVRL1(5818), KRT10(3858), KRT9(3857), PLEC(5339)]
PLANTAR PITS(HP:0010612)	[PTCH1(5727)]
PLASMA CORTISOL LOW(HP:0008163)	[MRAP(56246), TBX19(9095), MC2R(4158)]
PLATELET ANTIBODY POSITIVE(HP:0003454)	[FCGR2C(9103), FAS(355), CASP10(843)]
PLATELETS SHOW IMPAIRED AGGREGATION IN RESPONSE TO ADP(HP:0004866)	[P2RY12(64805)]
PLATYBASIA(HP:0002691)	[GJA1(2697), COL1A1(1277)]
PLATYSPONDYLY(HP:0000926)	[TRAPPC2(6399), HSPG2(3339), GUSB(2990), COMP(1311), FGFR1(2260), FGFR3(2261), OCRL(4952), MMP13(4322), COL11A2(1302), COL11A1(1301), FLNA(2316), PLOD2(5352), FLNB(2317), SLC26A2(1836), RMRP(6023), PAPSS2(9060), DYM(54808), COL2A1(1280), FUCA1(2517), GLB1(2720), SMARCAL1(50485), ADA(100), WISP3(8838), GALNS(2588), LRP5(4041), DDR2(4921), EIF2AK3(9451), TRPV4(59341), LBR(3930), ALPL(249), COL1A2(1278), ACAN(176), COL1A1(1277), LEPRE1(64175), ATP7A(538)]
PLATYSPONDYLY (CHILDHOOD)(HP:0003421)	[COL11A2(1302)]
PLATYSPONDYLY WITH ANTERIOR WEDGING(HP:0004595)	[COL2A1(1280)]
PLATYSPONDYLY WITH MULTIPLE EXTRA OSSIFICATION CENTERS(HP:0004598)	[LBR(3930)]
PLETHORA(HP:0001050)	[VHL(7428)]
PLEURAL EFFUSION(HP:0002202)	[LBR(3930), CCBE1(147372), HFE(3077)]
PLEURAL LYMPHANGIECTASIA(HP:0006531)	[CCBE1(147372)]
PLEURITIS(HP:0002102)	[MEFV(4210)]
PLEXIFORM NEUROFIBROMA(HP:0009732)	[NF1(4763)]
PNEUMONIA(HP:0002090)	[DNAI1(27019), TNFRSF13B(23495), NBN(4683), SGCG(6445), COL11A2(1302), SLC35C1(55343), NCF2(4688), NCF1(653361), RAG2(5897), RAG1(5896), BTK(695), FMO3(2328), GNPTAB(79158), DNMT3B(1789), ADA(100), DCLRE1C(64421), CYBA(1535), IL2RG(3561), CYBB(1536), NIPBL(25836), DDR2(4921), OFD1(8481), WAS(7454), GJA1(2697), GBA(2629), ALMS1(7840), PNP(4860), CASP8(841), ICOS(29851)]
PNEUMONIA DUE TO IMMUNODEFICIENCY(HP:0002096)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
PNEUMONIA, RECURRENT EPISODES(HP:0006532)	[PLOD1(5351), DDR2(4921)]
PNEUMOTHORAX(HP:0002107)	[FBN1(2200), FLCN(201163), COL3A1(1281), ADAMTS2(9509)]
POIKILOCYTIC HEMOLYTIC ANEMIA(HP:0004827)	[PGK1(5230), SPTA1(6708)]
POIKILOCYTOSIS(HP:0004447)	[SPTB(6710), GP1BA(2811), SPTA1(6708), APOB(338), VPS13A(23230), EPB42(2038), GATA1(2623), STOM(2040), RHAG(6005), ANK1(286), PANK2(80025), ADAMTS13(11093), CFH(3075), SLC4A1(6521), SC5DL(6309), HAGH(3029)]
POIKILODERMA(HP:0001029)	[DDB2(1643), ERCC2(2068), RECQL4(9401), XPC(7508), ERCC6(2074), XPA(7507), POLH(5429)]
POINTED CHIN(HP:0000307)	[ZEB2(9839), NSD1(64324), PORCN(64840), FLNA(2316)]
POINTED PROXIMAL SECOND THROUGH FIFTH METACARPALS(HP:0001223)	[GALNS(2588), GLB1(2720)]
POLAR CATARACT(HP:0010696)	[ITM2B(9445), HSF4(3299)]
POLYARTICULAR ARTHRITIS(HP:0005764)	[MEFV(4210)]
POLYARTICULAR ARTHROPATHY(HP:0005195)	[MEFV(4210)]
POLYARTICULAR CHONDROCALCINOSIS(HP:0005017)	[ANKH(56172)]
POLYCLONAL ELEVATION OF IGM(HP:0003459)	[KLHDC8B(200942)]
POLYCYSTIC KIDNEY(HP:0000113)	[MKKS(8195), PKHD1(5314), CDC73(79577), NIPBL(25836), ETFDH(2110), ETFB(2109), EYA1(2138), ETFA(2108), ESCO2(157570), MKS1(54903), OFD1(8481), NPHP3(27031), PKD2(5311), CPT2(1376), PKD1(5310)]
POLYCYSTIC LIVER DISEASE(HP:0006557)	[PRKCSH(5589), SEC63(11231)]
POLYCYSTIC OVARIES(HP:0000147)	[PPP1R3A(5506), BSCL2(26580), PPARG(5468), INSR(3643), LMNA(4000), AGPAT2(10555), POR(5447), FST(10468), CYP19A1(1588)]
POLYDACTYLY(HP:0010442)	[EP300(2033), BBS5(129880), TRIM32(22954), ARL6(84100), SALL4(57167), TGFBR1(7046), TBX3(6926), LMBR1(64327), FLNA(2316), GLI3(2737), ALX3(257), PTCH1(5727), RPGRIP1L(23322), FANCD2(2177), FANCC(2176), FANCE(2178), BBS9(27241), SC5DL(6309), CANT1(124583), BMP4(652), SALL1(6299), GPC3(2719), TMEM216(51259), BLM(641), ROR2(4920), LBR(3930), MKS1(54903), MIPOL1(145282), CREBBP(1387), RAB23(51715), MKKS(8195), WHCR(7467), CD96(10225), WHSC1(7468), EVC2(132884), FGFR3(2261), GDF5(8200), INPP5E(56623), CEP290(80184), FGFR2(2263), BBS12(166379), FGF10(2255), DHCR7(1717), HOXA13(3209), WNT7A(7476), EVC(2121), TTC8(123016), TBX5(6910), BBS1(582), BBS2(583), FANCA(2175), BBS4(585), PORCN(64840), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), BBS10(79738), OFD1(8481), HOXD13(3239), BBS7(55212), CHD7(55636)]
POLYDACTYLY (FEET)(HP:0001829)	[MKKS(8195), WHCR(7467), CD96(10225), WHSC1(7468), BBS5(129880), TRIM32(22954), ARL6(84100), LMBR1(64327), CEP290(80184), BBS12(166379), GLI3(2737), DHCR7(1717), RPGRIP1L(23322), EVC(2121), BBS9(27241), TTC8(123016), SC5DL(6309), CANT1(124583), BBS1(582), BBS2(583), BBS4(585), PORCN(64840), HYLS1(219844), ROR2(4920), LBR(3930), BBS10(79738), MKS1(54903), HOXD13(3239), BBS7(55212), RAB23(51715)]
POLYDACTYLY (HANDS)(HP:0001161)	[EP300(2033), BBS5(129880), TRIM32(22954), ARL6(84100), SALL4(57167), TGFBR1(7046), TBX3(6926), LMBR1(64327), FLNA(2316), GLI3(2737), ALX3(257), FANCD2(2177), RPGRIP1L(23322), FANCC(2176), FANCE(2178), BBS9(27241), SC5DL(6309), CANT1(124583), BMP4(652), SALL1(6299), GPC3(2719), TMEM216(51259), BLM(641), LBR(3930), MKS1(54903), MIPOL1(145282), CREBBP(1387), RAB23(51715), MKKS(8195), CD96(10225), EVC2(132884), FGFR3(2261), GDF5(8200), INPP5E(56623), CEP290(80184), FGFR2(2263), BBS12(166379), FGF10(2255), DHCR7(1717), HOXA13(3209), WNT7A(7476), EVC(2121), TTC8(123016), TBX5(6910), BBS1(582), BBS2(583), FANCA(2175), BBS4(585), PORCN(64840), HYLS1(219844), SEMA3E(9723), TFAP2A(7020), BBS10(79738), OFD1(8481), HOXD13(3239), BBS7(55212), CHD7(55636)]
POLYDIPSIA(HP:0001959)	[NPHP4(261734), AQP2(359), CLDN16(10686), NPHP1(4867), SLC12A3(6559), SLC5A2(6524), KCNJ1(3758), NPHP3(27031), CASR(846), AVPR2(554), CTNS(1497)]
POLYHYDRAMNIOS(HP:0001561)	[ERBB3(2065), MYCN(4613), FOXE1(2304), RYR1(6261), CD96(10225), DMPK(1760), RAPSN(5913), FGFR3(2261), HSD17B4(3295), BRAF(673), ZMPSTE24(10269), MTM1(4534), FLNB(2317), MAP2K1(5604), SLC26A2(1836), MAP2K2(5605), ITGB4(3691), ESCO2(157570), SOX9(6662), HRAS(3265), SPINT2(10653), BSND(7809), SLC35D1(23169), KCNJ1(3758), COL2A1(1280), NEB(4703), CHRNA1(1134), TRIP11(9321), CLCNKB(1188), KRAS(3845), B3GALTL(145173), HYLS1(219844), EBP(10682), LBR(3930), FAM123B(139285), DOK7(285489), CHRNG(1146), GBA(2629), SLC12A1(6557), CHRND(1144), ALPL(249), GBE1(2632), PTH1R(5745), ITGA6(3655)]
POLYMICROGYRIA(HP:0002126)	[PEX19(5824), FH(2271), PEX2(5828), PEX10(5192), PEX5(5830), PEX14(5195), RAPSN(5913), GPR56(9289), PEX13(5194), PEX1(5189), PEX3(8504), HSD17B4(3295), MECP2(4204), DOK7(285489), RECQL4(9401), CPT2(1376), TUBB2B(347733), PEX26(55670)]
POLYMICROGYRIA, ANTERIOR TO POSTERIOR GRADIENT(HP:0006821)	[GPR56(9289)]
POLYMICROGYRIA, MOST SEVERE IN THE FRONTOPARIETAL REGIONS(HP:0007095)	[GPR56(9289)]
POLYMORPHOUS POSTERIOR CORNEAL DYSTROPHY(HP:0007915)	[VSX1(30813)]
POLYNEUROPATHY(HP:0001271)	[MYOT(9499), PEX2(5828), SMCR(6600), ERCC8(1161), PEX1(5189), PRPS1(5631), ERCC6(2074), EDNRB(1910), PRPS2(5634), C10orf2(56652), PSAP(5660), DGUOK(1716), SNAP29(9342), MPV17(4358), GCLC(2729), CYP27A1(1593), FAM126A(84668), GSN(2934), RAI1(10743), PMM2(5373), FUCA1(2517), ABCD1(215), PEX26(55670), LDB3(11155)]
POLYPHAGIA(HP:0002591)	[BSCL2(26580), SLC5A2(6524), AGPAT2(10555)]
POLYPNEA(HP:0002874)	[OXCT1(5019)]
POLYSPLENIA(HP:0001748)	[MYCN(4613), GPC3(2719), NPHP3(27031), RAB23(51715)]
POLYURIA(HP:0000103)	[NPHP4(261734), CLCNKB(1188), AVPR2(554), CTNS(1497), AQP2(359), SLC12A3(6559), NPHP1(4867), CLDN16(10686), BSND(7809), SLC12A1(6557), SLC5A2(6524), KCNJ1(3758), NPHP3(27031), CASR(846)]
PONTOCEREBELLAR ATROPHY(HP:0006879)	[SETX(23064)]
PONTOCEREBELLAR HYPOPLASIA(HP:0007053)	[VRK1(7443), TSEN54(283989)]
POOR APPETITE(HP:0004396)	[PCCB(5096), SLC39A4(55630), SLC2A2(6514), TGFB1(7040), PCCA(5095)]
POOR COLOR DISCRIMINATION(HP:0007954)	[OPN1MW(2652), OPN1LW(5956)]
POOR COORDINATION(HP:0002370)	[SLC25A15(10166), EP300(2033), MKKS(8195), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), ARL6(84100), NSD1(64324), BBS4(585), CEP290(80184), BBS12(166379), SLC6A8(6535), BBS10(79738), MKS1(54903), BBS7(55212), CREBBP(1387), MTR(4548), BBS9(27241), TTC8(123016)]
POOR DENTAL DEVELOPMENT(HP:0006296)	[MAPK10(5602)]
POOR EYE CONTACT(HP:0000817)	[FMR1(2332)]
POOR FEEDING DUE TO MUSCLE WEAKNESS(HP:0002568)	[COLQ(8292), CHRNA1(1134), CHAT(1103), CHRNE(1145), CHRND(1144)]
POOR FINE AND GROSS MOTOR COORDINATION(HP:0007015)	[PDHX(8050)]
POOR FINE MOTOR COORDINATION(HP:0007010)	[SNRPN(6638), NDN(4692)]
POOR HAND-EYE COORDINATION(HP:0007057)	[SLC6A8(6535)]
POOR HEAD CONTROL(HP:0002421)	[GM2A(2760), SEPN1(57190), SNAP29(9342), TREX1(11277), HEXA(3073)]
POOR MOBILITY(HP:0002481)	[MAPT(4137)]
POOR MOTOR COORDINATION(HP:0002275)	[SNRPN(6638), SUCLG1(8802), NDN(4692), ATP7B(540), PDHX(8050)]
POOR SCHOOL PERFORMANCE(HP:0000730)	[ARSA(410), NPC2(10577), NPC1(4864)]
POOR SPEECH(HP:0002465)	[EP300(2033), CREBBP(1387), DLAT(1737)]
POOR SUCK(HP:0002033)	[CHRNA1(1134), ABCD3(5825), SNRPN(6638), CHAT(1103), DHCR7(1717), NDN(4692), PEX2(5828), CHRNE(1145), CHRND(1144)]
POOR WEIGHT GAIN(HP:0001535)	[LIPA(3988), GBA(2629), SLC2A2(6514)]
POOR WOUND HEALING(HP:0001058)	[COL5A2(1290), COL5A1(1289), COL1A2(1278), COL1A1(1277)]
POORLY DEVELOPED SKELETAL MUSCULATURE(HP:0009034)	[ATP6V0A2(23545)]
POORLY FORMED PINNAE(HP:0008562)	[FBN2(2201)]
POORLY OSSIFIED CALVARIA(HP:0005474)	[CRTAP(10491), ALPL(249), COL1A1(1277), ZMPSTE24(10269)]
POPLITEAL PTERYGIUM(HP:0009756)	[CHRNG(1146), IRF6(3664)]
PORENCEPHALY(HP:0002132)	[OFD1(8481), COL4A1(1282)]
PORTAL HYPERTENSION(HP:0001409)	[DGUOK(1716), MPV17(4358), PKHD1(5314), GBE1(2632), C10orf2(56652)]
POSITIONAL FOOT DEFORMITIES(HP:0005656)	[PEX19(5824), FBN1(2200), ABCD3(5825), PLOD1(5351), FBN2(2201), ATRX(546), PEX2(5828), BBS5(129880), PEX5(5830), TRIM32(22954), TBX15(6913), ATR(545), MYH3(4621), ARL6(84100), CCBE1(147372), TGFBR1(7046), NSD1(64324), GAN(8139), HSD17B4(3295), FLNA(2316), PLOD2(5352), FLNB(2317), ESCO2(157570), SOX9(6662), HRAS(3265), MYH8(4626), GNPTAB(79158), BBS9(27241), SC5DL(6309), PLEKHG5(57449), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), IRF6(3664), MTMR2(8898), FGD4(121512), MKS1(54903), RAB3GAP2(25782), CHRNG(1146), RECQL4(9401), BMPR1B(658), CTDP1(9150), HSPG2(3339), MKKS(8195), WHCR(7467), FBXO7(25793), WHSC1(7468), RAPSN(5913), NDRG1(10397), FGFR1(2260), EVC2(132884), GDF5(8200), CEP290(80184), BBS12(166379), LMX1B(4010), DHCR24(1718), SLC26A2(1836), COL6A1(1291), L1CAM(3897), COL6A2(1292), COL6A3(1293), PITX1(5307), FGD1(2245), GDAP1(54332), COL2A1(1280), COL3A1(1281), WNT7A(7476), EVC(2121), PEX26(55670), TTC8(123016), ALG3(10195), BBS1(582), BBS2(583), TNNI2(7136), CHST14(113189), BBS4(585), PEX3(8504), HYLS1(219844), TNNT3(7140), DES(1674), EBP(10682), BBS10(79738), KDM5C(8242), OFD1(8481), IGHMBP2(3508), FAM123B(139285), BBS7(55212), DOK7(285489), TPM2(7169), CHST3(9469), PMP22(5376), SMS(6611)]
POSITIVE FERRIC CHLORIDE TEST(HP:0003612)	[FTCD(10841)]
POSITIVE REGITINE TEST(HP:0003574)	[RET(5979), KIF1B(23095), SDHD(6392), SDHB(6390), VHL(7428)]
POSITIVE ROMBERG SIGN(HP:0002403)	[MFN2(9927), TBP(6908), POLG(5428), C10orf2(56652)]
POST-ANGIOPLASTY CORONARY ARTERY RESTENOSIS(HP:0004761)	[SERPIND1(3053)]
POST-TRANSFUSION THROMBOCYTOPENIA(HP:0004813)	[ITGB3(3690)]
POSTAXIAL POLYDACTYLY (FEET)(HP:0001830)	[LBR(3930), CD96(10225), DHCR7(1717), HOXD13(3239), RPGRIP1L(23322), LMBR1(64327), EVC(2121), SC5DL(6309), GLI3(2737)]
POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162)	[MKKS(8195), CD96(10225), BBS5(129880), TRIM32(22954), TGFBR1(7046), ARL6(84100), TBX3(6926), EVC2(132884), GDF5(8200), INPP5E(56623), LMBR1(64327), FGFR2(2263), CEP290(80184), BBS12(166379), FLNA(2316), GLI3(2737), ALX3(257), DHCR7(1717), HOXA13(3209), RPGRIP1L(23322), WNT7A(7476), EVC(2121), BBS9(27241), TTC8(123016), SC5DL(6309), GPC3(2719), TMEM216(51259), BBS1(582), BBS2(583), BBS4(585), PORCN(64840), HYLS1(219844), LBR(3930), BBS10(79738), MKS1(54903), OFD1(8481), HOXD13(3239), BBS7(55212), RAB23(51715)]
POSTAXIAL POLYDACTYLY FINGERS/TOES(HP:0004698)	[EVC2(132884), EVC(2121)]
POSTERIOR AURICULAR PIT(HP:0004464)	[TFAP2A(7020)]
POSTERIOR CHOANAL ATRESIA(HP:0004496)	[SEMA3E(9723), CHD7(55636)]
POSTERIOR EMBRYOTOXON(HP:0000627)	[DGCR(1714), TBX1(6899), JAG1(182)]
POSTERIOR FLATTENING OF THE SKULL(HP:0000247)	[CYP27B1(1594), SLC34A3(142680), VDR(7421), CYP2R1(120227)]
POSTERIOR FOSSA CYST AT THE FOURTH VENTRICLE(HP:0000933)	[ZIC1(7545), ZIC4(84107)]
POSTERIOR FOSSA CYSTS(HP:0007291)	[ZIC1(7545), ZIC4(84107), FGFR2(2263)]
POSTERIOR FOSSA MALFORMATIONS(HP:0006809)	[BUB1B(701)]
POSTERIOR LEUKOENCEPHALOPATHY(HP:0006859)	[COL4A1(1282)]
POSTERIOR PHARYNGEAL CLEFT(HP:0006783)	[MID1(4281)]
POSTERIOR POLAR CATARACT(HP:0001115)	[ITM2B(9445)]
POSTERIOR RIB CUPPING(HP:0000922)	[MATN3(4148), DDR2(4921)]
POSTERIOR RIB FUSION(HP:0000913)	[GDF6(392255)]
POSTERIOR SUBCAPSULAR CATARACTS(HP:0007787)	[OAT(4942)]
POSTERIOR WEDGING OF VERTEBRAL BODIES(HP:0008444)	[SEC23A(10484)]
POSTERIOR Y-SUTURAL CATARACT(HP:0008031)	[NHS(4810)]
POSTERIORLY ROTATED EARS(HP:0000358)	[PEX19(5824), MYCN(4613), FBN1(2200), HSPG2(3339), RET(5979), CD96(10225), ATRX(546), PEX5(5830), RAPSN(5913), PHOX2B(8929), FGFR2(2263), MVK(4598), EDN3(1908), BRAF(673), FLNA(2316), GLI3(2737), MAP2K1(5604), BDNF(627), PTPN11(5781), DHCR24(1718), MAP2K2(5605), ESCO2(157570), BUB1B(701), DHCR7(1717), SOS1(6654), MAPK10(5602), PEX26(55670), GDNF(2668), BMP4(652), TBCE(6905), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), CHST14(113189), KRAS(3845), PEX3(8504), ROR2(4920), TFAP2A(7020), RAB3GAP2(25782), OFD1(8481), FAM123B(139285), ASCL1(429), AP3B1(8546), DOK7(285489), RECQL4(9401), CPT2(1376)]
POSTNATAL FAILURE TO THRIVE(HP:0008916)	[RAB3GAP1(22930)]
POSTNATAL GROWTH DECELERATION(HP:0008868)	[PTEN(5728)]
POSTNATAL GROWTH FAILURE(HP:0008865)	[DNAJC19(131118)]
POSTURAL HYPOTENSION WITH COMPENSATORY TACHYCARDIA(HP:0005307)	[NTRK1(4914)]
POSTURAL INSTABILITY(HP:0002172)	[ATP1A3(478), FBXO7(25793), COQ9(57017), PDSS2(57107), PINK1(65018), LRRK2(120892), ATXN3(4287), PARK2(5071), COQ2(27235), PDSS1(23590), APTX(54840), ATXN2(6311), CABC1(56997)]
POSTURAL TREMOR(HP:0002174)	[MPZ(4359), ITPR1(3708), PARK7(11315), PMP22(5376), ATXN2(6311)]
POTTER FACIES(HP:0002009)	[AGTR1(185), PKHD1(5314), NPHP3(27031), AGT(183), ACE(1636), REN(5972)]
PRE- OR POSTAXIAL POLYDACTYLY(HP:0006046)	[OFD1(8481), LMBR1(64327)]
PRE-EXCITATION SYNDROMES(HP:0004309)	[GAA(2548), LAMP2(3920), TSC1(7248), TSC2(7249), PRKAG2(51422)]
PREAURICULAR SINUS(HP:0004467)	[SALL1(6299), WHCR(7467), GPC3(2719), WHSC1(7468), B3GALTL(145173), TFAP2A(7020), EIF2AK3(9451), EYA1(2138), ZFPM2(23414), GDF1(2657), CECR(1055), KCNJ2(3759), RAB23(51715), JAG1(182), NKX2-5(1482)]
PREAURICULAR SKIN FURROWS(HP:0004450)	[FGFR2(2263)]
PREAURICULAR SKIN TAG(HP:0000384)	[TCOF1(6949), WHCR(7467), SALL1(6299), ALX3(257), GPC3(2719), WHSC1(7468), CECR(1055), FGFR1(2260), FGFR2(2263), GLI3(2737), EYA1(2138), FLNB(2317)]
PREAXIAL AND/OR POSTAXIAL POLYDACTYLY(HP:0006034)	[OFD1(8481), LMBR1(64327)]
PREAXIAL POLYDACTYLY (FEET)(HP:0001841)	[HOXD13(3239), LMBR1(64327), RAB23(51715), HYLS1(219844), CANT1(124583), GLI3(2737)]
PREAXIAL POLYDACTYLY (HANDS)(HP:0001177)	[BMP4(652), SALL1(6299), TBX5(6910), SALL4(57167), FANCA(2175), FGFR3(2261), LMBR1(64327), FGFR2(2263), HYLS1(219844), TFAP2A(7020), GLI3(2737), FGF10(2255), OFD1(8481), HOXD13(3239), FANCD2(2177), FANCC(2176), FANCE(2178), RAB23(51715), CANT1(124583)]
PRECOCIOUS ATHEROSCLEROSIS(HP:0004416)	[LMNA(4000)]
PRECOCIOUS PUBERTY(HP:0000826)	[GNAS(2778), LHCGR(3973), WHCR(7467), INSR(3643), PCNT(5116), WHSC1(7468), TSC1(7248), TSC2(7249), GLI3(2737), KISS1R(84634), DHCR7(1717), STK11(6794), RAB23(51715), CYP11B1(1584)]
PRECOCIOUS PUBERTY IN MALES(HP:0008185)	[LHCGR(3973), CYP11B1(1584)]
PRECOCIOUS PUBERTY WITH SERTOLI CELL TUMOR(HP:0008204)	[STK11(6794)]
PREDISPOSITION TO SEVERE INFECTIONS(HP:0002957)	[UMPS(7372), MC2R(4158)]
PRELINGUAL ONSET(HP:0003631)	[RDX(5962), TRIOBP(11078), PCDH15(65217)]
PREMATURE ARTERIOSCLEROSIS(HP:0005177)	[WRN(7486)]
PREMATURE BIRTH(HP:0001622)	[RAPSN(5913), CLCNKB(1188), TSHR(7253), FZD4(8322), LRP5(4041), KRAS(3845), BRAF(673), ZMPSTE24(10269), PNPO(55163), FLNB(2317), MAP2K1(5604), MAP2K2(5605), DHCR7(1717), IGHMBP2(3508), DOK7(285489), GBA(2629), BSND(7809), SLC17A5(26503), SLC12A1(6557), KCNJ1(3758), PTH1R(5745), COL3A1(1281), COL1A1(1277), ADAMTS2(9509)]
PREMATURE BIRTH FOLLOWING PREMATURE RUPTURE OF FETAL MEMBRANES(HP:0005100)	[COL5A2(1290), COL5A1(1289), COL1A1(1277)]
PREMATURE CALCIFICATION OF MITRAL ANNULUS(HP:0005136)	[FBN1(2200)]
PREMATURE CHROMATID SEPARATION(HP:0200024)	[ESCO2(157570), TSC1(7248), TSC2(7249)]
PREMATURE CHROMOSOME CONDENSATION(HP:0003451)	[MCPH1(79648)]
PREMATURE CORONARY ARTERY DISEASE(HP:0005181)	[LMNA(4000)]
PREMATURE DECIDUOUS TOOTH LOSS(HP:0006323)	[ALPL(249)]
PREMATURE DELIVERY BECAUSE OF CERVICAL INSUFFICIENCY OR MEMBRANE FRAGILITY(HP:0005267)	[COL3A1(1281)]
PREMATURE ERUPTION OF TEETH(HP:0006288)	[INSR(3643), NSD1(64324)]
PREMATURE FUSION OF PHALANGEAL EPIPHYSES(HP:0006140)	[MGP(4256)]
PREMATURE GRAYING OF HAIR(HP:0002216)	[TINF2(26277), MITF(4286), TERC(7012), TERT(7015), RECQL4(9401), DKC1(1736), TFAP2A(7020), PAX3(5077)]
PREMATURE LOSS OF PRIMARY TEETH(HP:0006351)	[ALPL(249)]
PREMATURE LOSS OF SECONDARY TEETH(HP:0006357)	[ALPL(249), TP63(8626)]
PREMATURE LOSS OF TEETH(HP:0006480)	[TINF2(26277), GJA1(2697), TERC(7012), TNFRSF11B(4982), TERT(7015), ALPL(249), TP63(8626), DKC1(1736)]
PREMATURE OCCLUSIVE VASCULAR DISEASE(HP:0005297)	[ABCC6(368)]
PREMATURE OSTEOARTHRITIS(HP:0003088)	[FBN1(2200), COL1A2(1278), COL1A1(1277), COL11A2(1302)]
PREMATURE OVARIAN FAILURE(HP:0008209)	[FOXL2(668), EIF2B2(8892), EIF2B5(8893), GALT(2592), EIF2B4(8890), EIF2B3(8891), EIF2B1(1967), POLG(5428)]
PREMATURE PERIPHERAL VASCULAR DISEASE(HP:0005299)	[APOE(348)]
PREMATURE RUPTURE OF MEMBRANES(HP:0001788)	[COL5A2(1290), PLOD1(5351), COL5A1(1289), COL1A1(1277), ZMPSTE24(10269), ADAMTS2(9509)]
PREMATURE SEPARATION OF CENTROMERIC HETEROCHROMATIN(HP:0003616)	[ESCO2(157570)]
PREMATURE SUDDEN CARDIAC DEATH(HP:0005161)	[DSC2(1824), TGFB3(7043)]
PREMATURELY AGED APPEARANCE(HP:0007495)	[GTF2H5(404672), ERCC2(2068), ERCC3(2071), ERCC8(1161), ERCC6(2074)]
PRENATAL GROWTH DEFICIENCY(HP:0001515)	[ABCD3(5825), PEX2(5828), TINF2(26277), ATR(545), STRA6(64220), ERCC6(2074), H19(283120), DNAJC19(131118), FLNB(2317), ESCO2(157570), BUB1B(701), UBR1(197131), CHRNA1(1134), PKLR(5313), DKC1(1736), B3GALTL(145173), BLM(641), ABCC8(6833), MKS1(54903), GFM1(85476), CHRNG(1146), CHRND(1144), PDX1(3651), ATP7A(538), KCNJ11(3767), CD96(10225), INSR(3643), RAPSN(5913), ERCC8(1161), NBN(4683), ZMPSTE24(10269), INS(3630), DHCR7(1717), IGF1(3479), IGF1R(3480), TNDM(7952), SMARCAL1(50485), TBCE(6905), GCK(2645), PCNT(5116), HYLS1(219844), NODAL(4838), NIPBL(25836), TFAP2A(7020), ATP6V0A2(23545), HOXD13(3239), IGHMBP2(3508), GBA(2629), DOK7(285489), CUL7(9820), ZFP57(346171)]
PRENATAL MANIFESTATIONS AND BIRTH ABNORMALITIES(HP:0001197)	[MYCN(4613), CPT1A(1374), RET(5979), GUSB(2990), SETX(23064), HSD17B4(3295), ACE(1636), REN(5972), ESCO2(157570), FAH(2184), GLE1(2733), HRAS(3265), NPC1(4864), CHRNA1(1134), UPK3A(7380), PPARG(5468), MRPS22(56945), CRTAP(10491), LRP5(4041), B3GALTL(145173), PTEN(5728), CHRNG(1146), CHRNE(1145), SLC12A1(6557), SLC17A5(26503), CHRND(1144), POR(5447), ACTA1(58), PTH1R(5745), CHRNB1(1140), CPT2(1376), ADAMTS2(9509), HBZ(3050), RAPSN(5913), FGFR3(2261), LOX(4015), OCRL(4952), GDF5(8200), TSFM(10102), SLC26A2(1836), COL5A2(1290), COL6A1(1291), COL5A1(1289), SPINT2(10653), BSND(7809), COL6A2(1292), COL6A3(1293), KCNJ1(3758), COL2A1(1280), COL3A1(1281), NEB(4703), SMN1(6606), TRIP11(9321), EBP(10682), HADHB(3032), HOXD13(3239), FAM123B(139285), IGHMBP2(3508), HBA1(3039), DOK7(285489), CDAN1(146059), HADHA(3030), ERBB3(2065), PLOD1(5351), FOXE1(2304), DMPK(1760), EFEMP2(30008), MGP(4256), BRAF(673), FLNA(2316), MTM1(4534), FLNB(2317), MAP2K1(5604), MAP2K2(5605), ITGB4(3691), SOX9(6662), BUB1B(701), NPC2(10577), FLT4(2324), SLC35D1(23169), PMM2(5373), NEU1(4758), PAH(5053), GPI(2821), PKLR(5313), PKHD1(5314), SOX18(54345), TSHR(7253), PNPO(55163), INVS(27130), LBR(3930), MKS1(54903), AGTR1(185), COL1A2(1278), COL1A1(1277), AGT(183), ITGA6(3655), WHCR(7467), RYR1(6261), CD96(10225), WHSC1(7468), ATM(472), FZD4(8322), MUSK(4593), ZMPSTE24(10269), DHCR7(1717), FBLN5(10516), WNT3(7473), NPHP3(27031), ALG1(56052), CLCNKB(1188), ALDH7A1(501), KRAS(3845), HYLS1(219844), PPP1R3A(5506), GBA(2629), ALPL(249), GBE1(2632)]
PRENATAL MATERNAL ABNORMALITY(HP:0002686)	[PPP1R3A(5506), PAH(5053), CPT1A(1374), PPARG(5468), HADHB(3032), POR(5447), HADHA(3030)]
PRENATAL MOVEMENT ABNORMALITY(HP:0001557)	[ERBB3(2065), MYCN(4613), PLOD1(5351), WHCR(7467), RYR1(6261), DMPK(1760), WHSC1(7468), RAPSN(5913), FGFR3(2261), MUSK(4593), TSFM(10102), ZMPSTE24(10269), MTM1(4534), COL6A1(1291), DHCR7(1717), COL6A2(1292), COL6A3(1293), NEB(4703), CHRNA1(1134), SMN1(6606), ALDH7A1(501), IGHMBP2(3508), CHRNG(1146), GBA(2629), CHRNE(1145), CHRND(1144), GBE1(2632), ACTA1(58), CHRNB1(1140)]
PRESACRAL TERATOMA(HP:0009793)	[MNX1(3110)]
PRESENCE OF FOAM CELLS(HP:0003651)	[NPC2(10577), NPC1(4864), SMPD1(6609), SC5DL(6309)]
PRESENILE CATARACTS(HP:0007819)	[PAX6(5080), BEST1(7439)]
PRIMARY ADRENAL INSUFFICIENCY(HP:0008207)	[ABCD1(215)]
PRIMARY ADRENOCORTICAL FAILURE(HP:0008252)	[NR0B1(190)]
PRIMARY AMENORRHEA(HP:0000786)	[SRY(6736), RET(5979), UPK3A(7380), PPARG(5468), PROK2(60675), FGFR1(2260), NELF(26012), TAC3(6866), PCSK1(5122), POLG(5428), WT1(7490), TACR3(6870), FSHB(2488), PPP1R3A(5506), KISS1R(84634), FSHR(2492), CYP19A1(1588), AR(367), CYP17A1(1586), CHD7(55636), BMPR1B(658)]
PRIMARY AND SECONDARY TEETH AFFECTED(HP:0001567)	[DSPP(1834)]
PRIMARY DYSFUNCTION OF B-LYMPHOCYTE ISOTYPE SWITCHING AND MEMORY B-CELL GENERATION(HP:0002847)	[CD40(958), CD40LG(959)]
PRIMARY GONADAL INSUFFICIENCY(HP:0008193)	[EIF2B2(8892), EIF2B5(8893), EIF2B4(8890), EIF2B3(8891), EIF2B1(1967)]
PRIMARY HYPERPARATHYROIDISM(HP:0008200)	[MEN1(4221), CDC73(79577)]
PRIMARY HYPOTHYROIDISM(HP:0000832)	[CTNS(1497)]
PRIMARY OVARIAN FAILURE(HP:0001587)	[NBN(4683), PMM2(5373), DCAF17(80067)]
PRIMARY PULMONARY DYSGENESIS, UNILATERAL(HP:0006549)	[TBX1(6899)]
PRIMITIVE REFLEXES (PALMOMENTAL, SNOUT, GLABELLAR)(HP:0002476)	[PSEN1(5663), TREM2(54209), TYROBP(7305), MAPT(4137)]
PROFOUND CONGENITAL DEAFNESS(HP:0008563)	[MYO7A(4647)]
PROFOUND SENSORINEURAL HEARING LOSS(HP:0008565)	[MYO7A(4647)]
PROFOUND, CONGENITAL, NEUROSENSORY, NONSYNDROMAL DEAFNESS(HP:0008571)	[MYO15A(51168)]
PROFUSE PIGMENTED SKIN LESIONS(HP:0005587)	[PRKAR1A(5573)]
PROGRESSIVE ACROOSTEOLYSIS OF THE CLAVICLE(HP:0000905)	[LMNA(4000), ZMPSTE24(10269)]
PROGRESSIVE ALOPECIA(HP:0002287)	[TP63(8626)]
PROGRESSIVE ALVEOLAR RIDGE HYPERTROPY(HP:0009092)	[GNPTAB(79158)]
PROGRESSIVE ATAXIA(HP:0001329)	[CDKL5(6792), ANCR(282), MVK(4598), MECP2(4204), UBE3A(7337)]
PROGRESSIVE AXONAL NEUROPATHY WITH DEMYELINIZATION ON ELECTRONEUROGRAPHY(HP:0003157)	[PRPS1(5631), PRPS2(5634)]
PROGRESSIVE CALCIFICATION OF COSTOCHONDRAL CARTILAGE(HP:0006600)	[DDR2(4921)]
PROGRESSIVE CARTILAGINOUS OSSIFICATION OF PINNAE(HP:0008549)	[MGP(4256)]
PROGRESSIVE CATARACTS(HP:0007834)	[BFSP2(8419)]
PROGRESSIVE CENTRAL VISION LOSS(HP:0008008)	[PITPNM3(83394)]
PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073)	[ATXN7(6314), ATXN8OS(6315), PPP2R2B(5521), KCNC3(3748), CACNA1A(773), ATXN10(25814), ATXN3(4287), TTBK2(146057), ATXN8(724066), PRKCG(5582), ATXN1(6310), ATXN2(6311)]
PROGRESSIVE CERVICAL VERTEBRAL SPINE FUSION(HP:0008449)	[ACVR1(90)]
PROGRESSIVE CHOREOATHETOSIS(HP:0007326)	[VPS13A(23230)]
PROGRESSIVE CHORIORETINAL DEGENERATION(HP:0007918)	[OAT(4942)]
PROGRESSIVE COGNITIVE DECLINE(HP:0007298)	[CHMP2B(25978)]
PROGRESSIVE CONDUCTIVE DEAFNESS(HP:0008607)	[NOG(9241)]
PROGRESSIVE DISORDER(HP:0003676)	[NDUFS7(374291), ZFYVE26(23503), LMNB1(4001), SETX(23064), SDHA(6389), HSPD1(3329), MECP2(4204), BCS1L(617), CYP7B1(9420), KIAA0196(9897), KCTD7(154881), POLG(5428), SPAST(6683), COL6A1(1291), AAAS(8086), IKBKAP(8518), ATXN3(4287), COX15(1355), COL6A2(1292), MAPK10(5602), COL6A3(1293), GAMT(2593), NDUFA2(4695), ANO5(203859), C8orf38(137682), CHRNA1(1134), NIPA1(123606), GNAS(2778), SPG11(80208), KIF5A(3798), TBP(6908), DLD(1738), SURF1(6834), PABPN1(8106), C10orf2(56652), NDUFS3(4722), NDUFV1(4723), SLC25A4(291), CHRNE(1145), NDUFS4(4724), CHRND(1144), SLC12A6(9990), NDUFS8(4728), CHRNB1(1140)]
PROGRESSIVE DISTAL MUSCLE WEAKNESS AND ATROPHY(HP:0009057)	[TRPV4(59341)]
PROGRESSIVE ENDPLATE IRREGULARITY(HP:0004628)	[CHST3(9469)]
PROGRESSIVE EXTRAPYRAMIDAL MOVEMENT DISORDER(HP:0007153)	[GAMT(2593)]
PROGRESSIVE FAILURE TO THRIVE(HP:0008853)	[GNPTAB(79158)]
PROGRESSIVE FORGETFULNESS(HP:0007017)	[TREX1(11277)]
PROGRESSIVE GAIT ATAXIA(HP:0007240)	[CDKL5(6792), ANCR(282), MECP2(4204), UBE3A(7337)]
PROGRESSIVE HEARING LOSS(HP:0001730)	[DIAPH1(1729)]
PROGRESSIVE HIGH-FREQUENCY HEARING LOSS(HP:0008584)	[DSPP(1834)]
PROGRESSIVE INABILITY TO WALK(HP:0002505)	[TK2(7084), SLC9A6(10479), CLN3(1201), GDAP1(54332), C10orf2(56652)]
PROGRESSIVE INTERVERTEBRAL SPACE NARROWING(HP:0004622)	[CHST3(9469)]
PROGRESSIVE JUVENILE MACULAR DYSTROPHY(HP:0007999)	[CDH3(1001)]
PROGRESSIVE LANGUAGE DETERIORATION(HP:0007064)	[GRN(2896)]
PROGRESSIVE LOSS OF ANTERIOR HORN CELLS(HP:0008312)	[UBA1(7317)]
PROGRESSIVE MACULAR DYSTROPHY(HP:0007914)	[CDH3(1001), ELOVL4(6785)]
PROGRESSIVE MACULAR SCARRING(HP:0007949)	[RPGR(6103), OPN1MW(2652), OPN1LW(5956)]
PROGRESSIVE MENTAL AND MOTOR DETERIORATION(HP:0006856)	[HEXB(3074)]
PROGRESSIVE MYOPIA(HP:0001110)	[COL2A1(1280)]
PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344)	[ITM2B(9445), TINF2(26277), SUMF1(285362), NHLRC1(378884), CTNS(1497), ACOX1(51), RAB27A(5873), GRN(2896), GBA(2629), HEXB(3074), NAGLU(4669), EPM2A(7957), HSD17B10(3028), GLB1(2720)]
PROGRESSIVE NIGHT BLINDNESS(HP:0007675)	[CYP4V2(285440)]
PROGRESSIVE OPHTHALMOPLEGIA(HP:0007650)	[ROBO3(64221)]
PROGRESSIVE PERIPHERAL NEUROPATHY(HP:0007133)	[ARSA(410), LYST(1130)]
PROGRESSIVE PSYCHOMOTOR DETERIORATION(HP:0007272)	[GLB1(2720)]
PROGRESSIVE PULMONARY FUNCTION IMPAIRMENT(HP:0006520)	[SLC34A2(10568)]
PROGRESSIVE RENAL INSUFFICIENCY(HP:0000106)	[GATA3(2625), CLDN19(149461), CLDN16(10686), CFH(3075)]
PROGRESSIVE RETICULATE HYPERPIGMENTATION(HP:0007456)	[KRT5(3852)]
PROGRESSIVE RETINAL DEGENERATION(HP:0007893)	[MCOLN1(57192)]
PROGRESSIVE RETINITIS PIGMENTOSA(HP:0001127)	[MYO7A(4647), USH2A(7399), USH1C(10083), GPR98(84059)]
PROGRESSIVE SCAPULOPERONEAL ATROPHY(HP:0008957)	[TRPV4(59341), SLC19A2(10560)]
PROGRESSIVE SHORTENING OF RADIUS IN FIRST YEAR(HP:0006418)	[NPR2(4882)]
PROGRESSIVE SPASTIC PARAPARESIS(HP:0007199)	[SLC25A15(10166)]
PROGRESSIVE SPASTIC QUADRIPLEGIA(HP:0002478)	[ARG1(383)]
PROGRESSIVE VISUAL FIELD DEFECTS(HP:0007987)	[PRPF3(9129)]
PROGRESSIVE VISUAL LOSS(HP:0000529)	[PITPNM3(83394), CLN6(54982), PRPS1(5631), TGFBI(7045), CHM(1121), RS1(6247), ATXN7(6314), CLN5(1203), TPP1(1200), CLN3(1201), CLN8(2055), NEU1(4758), CFH(3075)]
PROGRESSIVE VISUAL LOSS (4 TO 10 YEARS)(HP:0000560)	[CLN3(1201)]
PROGRESSIVE VITILIGO(HP:0005602)	[NBN(4683)]
PROGRESSIVE, LOW-FREQUENCY SENSORINEURAL HEARING LOSS(HP:0008573)	[WFS1(7466)]
PROJECTION OF SCALP HAIR ONTO LATERAL CHEEK(HP:0009554)	[TCOF1(6949), TSC1(7248), TSC2(7249)]
PROLACTIN-SECRETING PITUITARY ADENOMA(HP:0006767)	[SSTR5(6755), AIP(9049), MEN1(4221)]
PROLINURIA(HP:0003137)	[SLC6A20(54716), PRODH(5625), SLC36A2(153201), SLC6A19(340024), ALDH4A1(8659)]
PROLONGED BLEEDING AFTER DENTAL EXTRACTION(HP:0006298)	[GP1BA(2811)]
PROLONGED BLEEDING TIME(HP:0003010)	[ITGA2(3673), GP1BA(2811), ITGA2B(3674), GP9(2815), GP1BB(2812), HPS3(84343), CD36(948), GATA1(2623), HPS5(11234), HPS1(3257), RUNX1(861), VWF(7450), WAS(7454), BLOC1S3(388552), MYH9(4627), HPS4(89781), HPS6(79803), DTNBP1(84062), F5(2153)]
PROLONGED BLEEDING TIME 15-TO->30 MINUTES(HP:0008337)	[CD36(948)]
PROLONGED BRAINSTEM AUDITORY EVOKED POTENTIALS(HP:0004466)	[SH3TC2(79628)]
PROLONGED G2 PHASE OF CELL CYCLE(HP:0003214)	[FANCD2(2177), FANCA(2175), FANCC(2176), FANCE(2178)]
PROLONGED MINIATURE ENDPLATE CURRENTS (MEPC)(HP:0003436)	[COLQ(8292), CHRNA1(1134), CHRNE(1145), CHRND(1144), CHRNB1(1140)]
PROLONGED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003479)	[COLQ(8292), CHRNA1(1134), CHRNE(1145), CHRND(1144), CHRNB1(1140)]
PROLONGED NEONATAL JAUNDICE(HP:0006579)	[PEX19(5824), PEX10(5192), PEX14(5195), PEX5(5830), PEX13(5194), PEX1(5189), PEX3(8504), PEX26(55670)]
PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645)	[GGCX(2677), F12(2161), F9(2158), KLKB1(3818), F10(2159), PMM2(5373), F8(2157), DPM1(8813), F5(2153)]
PROLONGED PROTHROMBIN AND PARTIAL THROMBOPLASTIN TIMES(HP:0008151)	[F10(2159)]
PROLONGED QT INTERVAL ON EKG(HP:0001657)	[SCN5A(6331), CACNA1C(775), KCNE2(9992), KCNQ1(3784), KCNH2(3757), MECP2(4204), ANK2(287), KCNE1(3753), DNAJC19(131118)]
PROLONGED QTC INTERVAL(HP:0005184)	[MECP2(4204)]
PROLONGED WHOLE-BLOOD CLOTTING TIME IN SEVERE HEMOPHILIA(HP:0003229)	[VWF(7450), F9(2158)]
PROMINENT ANTIHELIX(HP:0000395)	[EVC(2121), SLC16A2(6567)]
PROMINENT ANTITRAGUS(HP:0008593)	[RAB3GAP2(25782)]
PROMINENT CHIN WITH CENTRAL DIMPLE(HP:0004648)	[MYH3(4621), NSD1(64324)]
PROMINENT EARS(HP:0000412)	[PTPN11(5781), COL6A1(1291), TWIST1(7291), CLCF1(23529), COL6A2(1292), COL6A3(1293), RPS6KA3(6197), FGFR2(2263), B3GALTL(145173), TFAP2B(7021), BLM(641)]
PROMINENT EPICANTHAL FOLDS(HP:0007930)	[GJA1(2697)]
PROMINENT EYES(HP:0000536)	[CD96(10225), INSR(3643), LMNA(4000), RAPSN(5913), LRP2(4036), ROR2(4920), DDR2(4921), B4GALT7(11285), ZMPSTE24(10269), ESCO2(157570), ZFPM2(23414), GDF1(2657), DOK7(285489), COL2A1(1280), PTH1R(5745), JAG1(182), NKX2-5(1482)]
PROMINENT FINGERTIP PADS(HP:0001212)	[MED12(9968), EP300(2033), CREBBP(1387), NSD1(64324)]
PROMINENT FRONTAL SINUSES(HP:0005478)	[KCNJ2(3759)]
PROMINENT GLABELLA(HP:0002057)	[WHCR(7467), WHSC1(7468)]
PROMINENT GLOBES(HP:0007870)	[FLNB(2317)]
PROMINENT INTERPHALANGEAL JOINTS(HP:0006237)	[COL11A2(1302)]
PROMINENT JAW(HP:0002051)	[UPF3B(65109), FMR1(2332)]
PROMINENT LIPS(HP:0000184)	[MYCN(4613), TRPS1(7227), ATRX(546), KRAS(3845), EDARADD(128178), BRAF(673), EDA(1896), MED12(9968), MAP2K1(5604), MAP2K2(5605), CUL4B(8450), OFD1(8481), EDAR(10913), SMS(6611), ADAMTS2(9509), SC5DL(6309)]
PROMINENT LOWER LIP(HP:0000179)	[MED12(9968), CUL4B(8450), ATRX(546), SMS(6611)]
PROMINENT MEDIAN PALATAL RAPHE(HP:0002708)	[SHH(6469)]
PROMINENT METOPIC SUTURE(HP:0005487)	[INS(3630), KCNJ11(3767), GCK(2645), ABCC8(6833)]
PROMINENT MIDFACE(HP:0000310)	[CTDP1(9150), NBN(4683)]
PROMINENT NASAL BRIDGE(HP:0000426)	[NHS(4810), VPS13B(157680), RECQL4(9401), KIAA1279(26128), RELN(5649)]
PROMINENT NASAL ROOT(HP:0000432)	[PCNT(5116), ERCC6(2074)]
PROMINENT NASAL TIP(HP:0005274)	[ZEB2(9839)]
PROMINENT NASOLABIAL FOLDS(HP:0005272)	[NF1(4763), TNNI2(7136), MYH3(4621), TPM2(7169), TNNT3(7140)]
PROMINENT NIPPLES(HP:0004405)	[RAB3GAP2(25782), INSR(3643)]
PROMINENT NOSE(HP:0000448)	[MED12(9968), NHS(4810), ATR(545), EMG1(10436), CTSK(1513), BLM(641)]
PROMINENT OCCIPUT(HP:0000269)	[MYCN(4613), KCNQ1OT1(10984), MOGS(7841), NSD1(64324), CDKN1C(1028), H19(283120), FLNA(2316), FLNB(2317)]
PROMINENT PHILTRUM(HP:0000305)	[MAP2K1(5604), MAP2K2(5605), TRPS1(7227), OFD1(8481), KRAS(3845), BRAF(673)]
PROMINENT PROTRUDING COCCYX(HP:0008472)	[TBX15(6913)]
PROMINENT SCROTAL RAPHE(HP:0003246)	[FGFR2(2263)]
PROMINENT STERNUM(HP:0000884)	[ARSB(411), DYM(54808), GALNS(2588), WNT7A(7476), GLB1(2720)]
PROMINENT SUPERFICIAL BLOOD VESSELS(HP:0007394)	[PPP1R3A(5506), PPARG(5468), LMNA(4000), ZMPSTE24(10269)]
PROMINENT SUPERFICIAL VEINS(HP:0001015)	[PPP1R3A(5506), PPARG(5468), LMNA(4000)]
PROMINENT SUPRAORBITAL ARCHES IN ADULT(HP:0004676)	[PTH1R(5745)]
PROMINENT SUPRAORBITAL RIDGES(HP:0000336)	[EDA(1896), PHF6(84295), ARX(170302), OPHN1(4983), SEC23A(10484), PTH1R(5745), FLNA(2316), PITX2(5308)]
PROMINENT UMBILICUS(HP:0001544)	[BSCL2(26580), AGPAT2(10555), FGD1(2245)]
PROMINENT UPPER CENTRAL INCISORS(HP:0000675)	[VPS13B(157680), COL11A1(1301)]
PROMINENT UPPER LIP(HP:0000215)	[MAP2K1(5604), MAP2K2(5605), TRPS1(7227), OFD1(8481), KRAS(3845), BRAF(673), SC5DL(6309)]
PROMINENT, LONG PHILTRUM(HP:0004654)	[TRPS1(7227)]
PROPIONICACIDEMIA(HP:0003571)	[PCCB(5096), PCCA(5095)]
PROPIONYL-COA CARBOXYLASE DEFICIENCY(HP:0003353)	[PCCB(5096), MCCC2(64087), PCCA(5095)]
PROPORTIONATE SHORT STATURE(HP:0003508)	[TBCE(6905), GJA1(2697)]
PROPTOSIS(HP:0000520)	[FBN1(2200), ABCA12(26154), CRTAP(10491), SOST(50964), FGFR1(2260), TGFBR1(7046), FGFR2(2263), COL11A2(1302), NIPBL(25836), PEPD(5184), MMP2(4313), SH3BP2(6452), ATXN3(4287), ALPL(249), POR(5447), LEPRE1(64175)]
PROSTATITIS(HP:0000024)	[BTK(695)]
PROTEIN AVOIDANCE(HP:0002038)	[SLC25A15(10166), CPS1(1373), ASS1(445), ASL(435), OTC(5009)]
PROTEIN C DEFICIENCY(HP:0005543)	[PROC(5624), DPM1(8813)]
PROTEIN S DEFICIENCY(HP:0004855)	[DPM1(8813)]
PROTEIN-LOSING ENTEROPATHY(HP:0002243)	[MPI(4351), CCBE1(147372)]
PROTEINURIA(HP:0000093)	[PLCE1(51196), AMN(81693), RET(5979), LYZ(4069), NPHS2(7827), SDHD(6392), ERCC8(1161), SDHB(6390), SCARB2(950), OCRL(4952), ERCC6(2074), LMX1B(4010), PAX2(5076), CTNS(1497), COL4A6(1288), NPHS1(4868), MEFV(4210), HNF1B(6928), SLC17A3(10786), MYH9(4627), CUBN(8029), APOA1(335), PMM2(5373), NEU1(4758), CFH(3075), FN1(2335), COL4A5(1287), FGA(2243), SMARCAL1(50485), GLA(2717), UPK3A(7380), LMNB2(84823), SLC37A4(2542), CLCN5(1184), LAMB2(3913), KIF1B(23095), COX6B1(1340), G6PC(2538), LRP2(4036), C3(718), NIPBL(25836), MMACHC(25974), VHL(7428), LCAT(3931), ADAMTS13(11093), FASTKD2(22868), ATP7B(540)]
PROTRACTED DIARRHEA(HP:0004385)	[RFX5(5993), MYO5B(4645), RFXAP(5994), RFXANK(8625), CIITA(4261)]
PROTRUDING EARS(HP:0000411)	[TRPS1(7227), PQBP1(10084)]
PROTRUSIO ACETABULI(HP:0003179)	[FBN1(2200), MMP2(4313), CRTAP(10491), COL1A1(1277)]
PROTUBERANCES AT ENDS OF LONG BONES(HP:0003105)	[EXT2(2132), EXT1(2131)]
PROTUBERANT ABDOMEN(HP:0001538)	[LIPA(3988), SLC37A4(2542), TRIP11(9321), CYP27B1(1594), G6PC(2538), GNE(10020), VDR(7421), COL2A1(1280), GNPTAB(79158), SMPD1(6609)]
PROTUBERANT ABDOMEN DUE TO MUSCLE WEAKNESS(HP:0001546)	[CYP27B1(1594), VDR(7421)]
PROXIMAL AMYOTROPHY(HP:0007126)	[SMN1(6606), DOK7(285489), AGRN(375790), TNNT1(7138), TCAP(8557), CAPN3(825)]
PROXIMAL AORTIC COARCTATION(HP:0005151)	[GLI3(2737)]
PROXIMAL FEMORAL EPIPHYSIOLYSIS(HP:0006461)	[RET(5979), PCNT(5116), SBDS(51119)]
PROXIMAL FIBULAR OVERGROWTH(HP:0005067)	[CANT1(124583)]
PROXIMAL MUSCLE INVOLVEMENT MAY OCCUR(HP:0003475)	[MYOT(9499), LMNA(4000), GDAP1(54332)]
PROXIMAL MUSCLE WEAKNESS(HP:0003701)	[VCP(7415), BIN1(274), FKRP(79147), RYR1(6261), LMNA(4000), LARGE(9215), TRIM32(22954), RAPSN(5913), COL9A3(1299), FLNC(2318), SGCG(6445), POLG(5428), MUSK(4593), MYF6(4618), CRYAB(1410), MYH7(4625), TTN(7273), DNM2(1785), ANO5(203859), OAT(4942), TK2(7084), SMN1(6606), CHRNA1(1134), PLEKHG5(57449), CNBP(7555), MFN2(9927), DYSF(8291), CAV3(859), MTMR2(8898), VMA21(203547), PABPN1(8106), DES(1674), C10orf2(56652), FKTN(2218), DOK7(285489), CHRNE(1145), CHRND(1144), GAA(2548), AGRN(375790), LAMP2(3920), TCAP(8557), TPM3(7170), CHRNB1(1140), DMD(1756), LDB3(11155)]
PROXIMAL MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003399)	[DOK7(285489), AGRN(375790)]
PROXIMAL MUSCLE WEAKNESS IN LOWER LIMBS(HP:0008994)	[TCAP(8557), VMA21(203547)]
PROXIMAL MUSCLE WEAKNESS IN UPPER LIMBS(HP:0008997)	[TCAP(8557)]
PROXIMAL MUSCLE WEAKNESS OCCURS LATER(HP:0003694)	[CRYAB(1410), DES(1674)]
PROXIMAL MUSCLE WEAKNESS, MILD(HP:0009033)	[FKTN(2218), POLG(5428), OAT(4942), C10orf2(56652)]
PROXIMAL RADIO-ULNAR SYNOSTOSIS(HP:0005037)	[HOXA11(3207)]
PROXIMAL RENAL TUBULAR ACIDOSIS(HP:0002049)	[SLC4A4(8671), ALDOB(229), OCRL(4952), PC(5091)]
PROXIMAL RENAL TUBULE DEFECT(HP:0000114)	[CLCN5(1184), LRP2(4036), PMM2(5373), ETFDH(2110), ETFB(2109), ETFA(2108)]
PROXIMAL SYMPHALANGISM(HP:0006152)	[NOG(9241), GDF5(8200)]
PROXIMAL TAPERING OF METACARPALS(HP:0006119)	[GUSB(2990), GALNS(2588), GLB1(2720)]
PROXIMAL TIBIAL HYPOPOLASIA(HP:0006379)	[HYLS1(219844)]
PROXIMAL UPPER LIMB MUSCLE ATROPHY(HP:0008948)	[TCAP(8557)]
PROXIMALLY PLACED THUMB(HP:0009623)	[NOG(9241), DHCR7(1717), HOXA13(3209), B3GALTL(145173), TFAP2A(7020), NIPBL(25836), MGAT2(4247)]
PRURITUS(HP:0000989)	[FECH(2235), OSMR(9180), ATP2A2(488), ATP8B1(5205), ABCB11(8647), PDGFRA(5156)]
PSEUDOARTHROSIS(HP:0005864)	[NF1(4763), FGFR1(2260)]
PSEUDOBULBAR BEHAVIORAL SYMPTOMS(HP:0002193)	[ALS2(57679)]
PSEUDOBULBAR PARALYSIS(HP:0007024)	[LMNB1(4001), CYP27A1(1593), SOD1(6647), NOTCH3(4854)]
PSEUDOBULBAR SIGNS(HP:0002200)	[LMNB1(4001), CYP27A1(1593), ALS2(57679), SOD1(6647), NOTCH3(4854)]
PSEUDOEPIPHYSES OF SECOND METACARPAL(HP:0006179)	[SALL1(6299)]
PSEUDOEPIPHYSES OF THE 2ND FINGER(HP:0009495)	[GDF5(8200)]
PSEUDOEPIPHYSES OF THE 3RD FINGER(HP:0009417)	[GDF5(8200)]
PSEUDOEPIPHYSES OF THE METACARPALS(HP:0009193)	[WHCR(7467), SALL1(6299), WHSC1(7468), PCNT(5116)]
PSEUDOEPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010235)	[GDF5(8200)]
PSEUDOHYPOALDOSTERONISM(HP:0008242)	[WNK1(65125), SCNN1G(6340), SCNN1A(6337), SCNN1B(6338), WNK4(65266)]
PSEUDOHYPOALDOSTERONISM TYPE II(HP:0008228)	[WNK1(65125), WNK4(65266)]
PSEUDOHYPOPARATHYROIDISM(HP:0000852)	[GNAS(2778), GNASAS(149775), STX16(8675)]
PSEUDOPAPILLEDEMA(HP:0000538)	[PTEN(5728)]
PSEUDOSCLERODERMA(HP:0001594)	[UROD(7389), UROS(7390)]
PSYCHIATRIC DISORDERS(HP:0002368)	[PINK1(65018), WFS1(7466), MTHFR(4524), CBS(875), NOTCH3(4854)]
PSYCHOMOTOR DEGENERATION(HP:0002361)	[PPT1(5538), CLN3(1201), HEXA(3073), PLP1(5354)]
PSYCHOMOTOR REGRESSION(HP:0002489)	[PLA2G6(8398), NDUFAF3(25915), NDUFA11(126328), SDHA(6389), NDUFAF4(29078), POLG(5428), NDUFS1(4719), NDUFAF2(91942), L2HGDH(79944), PSAP(5660), NDUFV1(4723), NDUFS2(4720), C20orf7(79133), NDUFS6(4726), NDUFS4(4724), NDUFA1(4694), GFAP(2670), SDHAF1(644096)]
PSYCHOMOTOR REGRESSION BEGINNING IN INFANCY(HP:0007037)	[L2HGDH(79944)]
PSYCHOMOTOR REGRESSION IN INFANTS(HP:0007247)	[SDHA(6389), SDHAF1(644096)]
PSYCHOMOTOR REGRESSION, PROGRESSIVE(HP:0006797)	[PLA2G6(8398)]
PSYCHOMOTOR RETARDATION(HP:0001255)	[FBN1(2200), FBN2(2201), FKRP(79147), SUCLG1(8802), MMADHC(27249), SACS(26278), CCBE1(147372), HSD17B4(3295), DNAJC19(131118), SLC16A2(6567), SLC35C1(55343), ABAT(18), HRAS(3265), COQ2(27235), FANCD2(2177), FANCC(2176), CTSA(5476), FANCE(2178), UBR1(197131), BBS9(27241), GNPTAB(79158), ACADM(34), CHRNA1(1134), ACADS(35), LYST(1130), ACAT1(38), ACADSB(36), SLC5A5(6528), B3GALTL(145173), SLC6A8(6535), ACOX1(51), FKTN(2218), MPZ(4359), CHRNE(1145), SLC12A1(6557), CHRND(1144), PUS1(80324), CHRNB1(1140), CHRNA4(1137), ACTB(60), SNRPN(6638), UPF3B(65109), FH(2271), ZEB2(9839), FGFR1(2260), FGFR3(2261), FGFR2(2263), BBS12(166379), POLG(5428), KCTD7(154881), FGF14(2259), FGF3(2248), POLA1(5422), FGD1(2245), ACY1(95), ASPM(259266), ACVR1(90), C8orf38(137682), HPRT1(3251), SMCR(6600), ALOXE3(59344), FASTKD2(22868), GNPTG(84572), HPD(3242), PMP22(5376), SMS(6611), TUBB2B(347733), SMPD1(6609), ERCC2(2068), TRIM32(22954), ERCC3(2071), PRPS1(5631), STRA6(64220), ERCC6(2074), PRODH(5625), MAP2K1(5604), SGSH(6448), MAP2K2(5605), C7orf11(136647), TMEM67(91147), ADSL(158), MAPK10(5602), FAM126A(84668), CLN8(2055), AGA(175), MFSD8(256471), SPG11(80208), MTMR2(8898), FTCD(10841), FGD4(121512), AHCY(191), COL1A2(1278), RPIA(22934), KIAA1279(26128), COL1A1(1277), JAG1(182), RAB3GAP1(22930), WHCR(7467), WFS1(7466), WHSC1(7468), SIX3(6496), ERCC8(1161), ST3GAL5(8869), MVK(4598), CEP290(80184), SLC1A1(6505), MUSK(4593), EYA1(2138), EIF2B2(8892), MED12(9968), EIF2B5(8893), PPT1(5538), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), GDAP1(54332), EVC(2121), PHGDH(26227), PCDH15(65217), SMARCAL1(50485), FRAS1(80144), SHH(6469), VLDLR(7436), CLCNKB(1188), FANCA(2175), ALDOA(226), ALDH3A2(224), CLN5(1203), TPP1(1200), CLN3(1201), MTRR(4552), VRK1(7443), MTR(4548), ALOX12B(242), AMT(275), PGK1(5230), CPS1(1373), MAOA(4128), NAGS(162417), SCN1A(6323), ANCR(282), NSD1(64324), VDR(7421), MAT1A(4143), SLC6A19(340024), ATXN7(6314), ESCO2(157570), ALX3(257), COX15(1355), ATXN1(6310), SC5DL(6309), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), RAB39B(116442), PEX1(5189), PEX7(5191), NUP62(23636), DCAF17(80067), C10orf2(56652), SLC17A5(26503), CREBBP(1387), SIL1(64374), SLC12A6(9990), MAN2B1(4125), MANBA(4126), SLC6A20(54716), PDHA1(5160), INPP5E(56623), SDHA(6389), MECP2(4204), COL11A2(1302), PDP1(54704), COL6A1(1291), IGF1(3479), COL6A2(1292), IGBP1(3476), COL6A3(1293), COL4A1(1282), PDSS1(23590), IGF1R(3480), COL2A1(1280), FUCA1(2517), UBE3A(7337), SLC26A4(5172), PQBP1(10084), TTC8(123016), PEX26(55670), BSCL2(26580), POMGNT1(55624), VPS13B(157680), COX6B1(1340), IL1RAPL1(11141), ARG1(383), PANK2(80025), AQP2(359), CHD7(55636), SLC25A15(10166), PLOD1(5351), CTH(1491), LARGE(9215), STS(412), RPS6KA3(6197), MGP(4256), PLP1(5354), FLNA(2316), FLNB(2317), IYD(389434), TTN(7273), ATP6AP2(10159), PMM2(5373), AASS(10157), NKX2-5(1482), AFF2(2334), FMR1(2332), LRPPRC(10128), ASS1(445), TSHB(7252), TSHR(7253), ASL(435), TSC1(7248), TSC2(7249), L2HGDH(79944), CTSD(1509), ASAH1(427), ARX(170302), MBTPS2(51360), MGAT2(4247), CTDP1(9150), HSPG2(3339), MBD5(55777), ATP1A2(477), CD96(10225), RYR1(6261), ATIC(471), HSPD1(3329), TRH(7200), MOCS2(4338), MOCS1(4337), ALG3(10195), PHKA2(5256), CDK5RAP2(55755), ALDH7A1(501), ATP2A2(488), TPM3(7170), TH(7054), SH3TC2(79628), CENPJ(55835), AUH(549), DCX(1641), ATRX(546), GLUD1(2746), TGM1(7051), DDC(1644), ATR(545), TGFBR1(7046), GAN(8139), AVPR2(554), CRBN(51185), MCCC1(56922), GLI3(2737), DCR(1637), THRB(7068), GLDC(2731), NPHP1(4867), GLB1(2720), TK2(7084), NKX2-1(7080), NTRK1(4914), GK(2710), ROR2(4920), MCPH1(79648), GTF2H5(404672), RAB3GAP2(25782), SLC9A6(10479), GJA1(2697), DBT(1629), ATP7A(538), SAR1B(51128), NDUFS7(374291), KCNJ11(3767), MKKS(8195), GPR56(9289), RAPSN(5913), OCRL(4952), BCS1L(617), AAAS(8086), KCNC3(3748), GNS(2799), ATXN10(25814), CYP27B1(1594), SBDS(51119), CYP27A1(1593), UROC1(131669), KCNJ2(3759), KCNJ1(3758), ABHD5(51099), GNAS(2778), BBS1(582), BBS2(583), OPHN1(4983), BBS4(585), TNNT1(7138), NIPBL(25836), BCKDHA(593), BBS10(79738), GM2A(2760), SNAP29(9342), BCKDHB(594), KDM5C(8242), FAM123B(139285), SDHAF1(644096), PLA2G6(8398), DMPK(1760), ATL1(51062), ARL6(84100), GATA1(2623), CC2D1A(54862), BRAF(673), OTC(5009), B4GALT7(11285), BUB1B(701), GALT(2592), ALS2(57679), TREX1(11277), SLC46A1(113235), BTK(695), DNM2(1785), DNMT3B(1789), TCOF1(6949), PAH(5053), TCN2(6948), BMP4(652), GALE(2582), BCOR(54880), DLAT(1737), DKC1(1736), DLD(1738), BLM(641), PSAT1(29968), PRX(57716), MKS1(54903), GABRG2(2566), GNPAT(8443), RPE65(6121), RECQL4(9401), PDHX(8050), ETHE1(23474), DMD(1756), POMT2(29954), GAD1(2571), ZFYVE26(23503), EHMT1(79813), PAX3(5077), PAX2(5076), INS(3630), RMRP(6023), GPHN(10243), DHCR7(1717), DGCR(1714), AHI1(54806), DYM(54808), CYB5R3(1727), GDI1(2664), PAK3(5063), COQ9(57017), GCH1(2643), HGSNAT(138050), GCK(2645), PCNT(5116), SOST(50964), CHST14(113189), GCSH(2653), TFAP2B(7021), TFAP2A(7020), PCCB(5096), ATP6V0A2(23545), GBA(2629), ARHGEF6(9459), CHST3(9469), APTX(54840), PC(5091), TG(7038), CABC1(56997), PCCA(5095), MYCN(4613), GUSB(2990), SH2D1A(4068), BBS5(129880), MYH3(4621), GJC2(57165), MYF6(4618), IKBKG(8517), GUCY2D(3000), CDKL5(6792), PTCH1(5727), FOXP2(93986), CANT1(124583), MYO7A(4647), MYO5A(4644), SEPN1(57190), LRP5(4041), PTEN(5728), UPB1(51733), MCOLN1(57192), SURF1(6834), ABCC8(6833), AP3B1(8546), RAI1(10743), ALDH5A1(7915), NAGA(4668), NAGLU(4669), ADAMTS2(9509), HCCS(3052), EVC2(132884), ALG6(29929), NBN(4683), PRPS2(5634), PSAP(5660), PDSS2(57107), SPG20(23111), CUL4B(8450), NDN(4692), PHF6(84295), NDP(4693), BSND(7809), NDUFA2(4695), NLGN4X(57502), CBS(875), SYN1(6853), NEB(4703), SERPINA7(6906), TBCE(6905), TBX1(6899), ATCAY(85300), PORCN(64840), PEX3(8504), NDUFS3(4722), TUBA1A(7846), NDUFV1(4723), HADHB(3032), PCDH19(57526), HADH(3033), OFD1(8481), BBS7(55212), NDUFS4(4724), DPAGT1(1798), NDUFS8(4728), HADHA(3030), HSD17B10(3028), PRSS12(8492), PEX19(5824), ABCD3(5825), EP300(2033), SLC4A4(8671), PEX2(5828), PEX5(5830), NEFL(4747), ALDH4A1(8659), SPAST(6683), SOX2(6657), NF1(4763), NEU1(4758), POMT1(10585), SLC36A2(153201), LAMB2(3913), GPI(2821), LAMA2(3908), LBR(3930), MLC1(23209), GFM1(85476), LAMP2(3920), SPR(6697), PTPN11(5781), EGR2(1959), L1CAM(3897), GSS(2937), EIF2B1(1967), FREM2(341640), TP63(8626), KRAS(3845), PTS(5805), MMACHC(25974), SEMA3E(9723), DUOXA2(405753), GRN(2896), PNP(4860)]
PSYCHOSIS(HP:0000709)	[PRNP(5621), ZFYVE26(23503), PPOX(5498), MECP2(4204), SLC6A19(340024), NHLRC1(378884), MED12(9968), SLC7A7(9056), PDE11A(50940), NPC2(10577), NDP(4693), HMBS(3145), NPC1(4864), EPM2A(7957), PAK3(5063), MYO7A(4647), ITM2B(9445), ACADS(35), VPS13A(23230), AIP(9049), PARK7(11315), ATP13A2(23400), PCDH19(57526), CLN3(1201), PRKAR1A(5573), ALDH5A1(7915), HSD17B10(3028)]
PSYCHOTIC EPISODES(HP:0000725)	[SLC7A7(9056), HMBS(3145), PARK7(11315), ATP13A2(23400)]
PSYCHOTIC MENTATION(HP:0001345)	[AIP(9049)]
PTERYGIA(HP:0001059)	[CHRNA1(1134), ITGB4(3691), CHRNG(1146), CHRND(1144), GPC6(10082), IRF6(3664), EFNB1(1947), PLOD2(5352), LMX1B(4010), ITGA6(3655)]
PTERYGIUM FORMATION (NAILS)(HP:0002165)	[NOP10(55505), DKC1(1736), NHP2(55651)]
PTOSIS(HP:0000508)	[FBN1(2200), TH(7054), BIN1(274), CHAT(1103), TGIF1(7050), ATRX(546), DDC(1644), MYH3(4621), MYF6(4618), ALX3(257), HRAS(3265), KIF21A(55605), TYMP(1890), SC5DL(6309), CHRNA1(1134), COLQ(8292), PEX7(5191), B3GALTL(145173), PEPD(5184), ABCC8(6833), C10orf2(56652), SLC25A4(291), C20orf7(79133), CHRNG(1146), CHRNE(1145), SLC17A5(26503), CHRND(1144), CREBBP(1387), SLC12A6(9990), CHRNB1(1140), DBH(1621), KCNJ11(3767), RAPSN(5913), ZEB2(9839), FGFR3(2261), INPP5E(56623), FGFR2(2263), POLG(5428), LMX1B(4010), SOS1(6654), PHF6(84295), IGF1(3479), TUBB3(10381), NDUFA1(4694), FGD1(2245), OPA1(4976), FOXC2(2303), UBA1(7317), COX6B1(1340), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), NIPBL(25836), PABPN1(8106), NDUFV1(4723), NDUFS2(4720), NDUFS6(4726), DOK7(285489), FASTKD2(22868), NDUFS4(4724), CHD7(55636), EP300(2033), TWIST1(7291), PHOX2A(401), NDUFAF2(91942), BRAF(673), IDS(3423), MAP2K1(5604), MAP2K2(5605), ATXN3(4287), NF1(4763), MAPK10(5602), TTN(7273), DNM2(1785), TCOF1(6949), NDUFAF3(25915), BCOR(54880), ZFHX4(79776), DLAT(1737), FOXL2(668), RAB3GAP1(22930), HSPG2(3339), WHCR(7467), WFS1(7466), WHSC1(7468), MUSK(4593), PTPN11(5781), INS(3630), DHCR7(1717), AHI1(54806), NME1(4830), GCK(2645), TP63(8626), KRAS(3845), TFAP2B(7021), ALDOA(226), TFAP2A(7020), SEMA3E(9723), PHYH(5264)]
PTOSIS, PROGRESSIVE(HP:0007838)	[PABPN1(8106)]
PUBERTY AND GONADAL DISORDERS(HP:0008373)	[RET(5979), ATRX(546), BBS5(129880), PROK2(60675), NELF(26012), TGFB1(7040), GLI3(2737), STK11(6794), MYH9(4627), COQ2(27235), PGR(5241), FANCD2(2177), FANCC(2176), FANCE(2178), BBS9(27241), GLA(2717), UPK3A(7380), PPARG(5468), AIP(9049), DCAF17(80067), FSHB(2488), GTF2H5(404672), RAB3GAP2(25782), FSHR(2492), SIL1(64374), FST(10468), PUS1(80324), RAB23(51715), PROKR2(128674), GP1BA(2811), MKKS(8195), CYP11A1(1583), SNRPN(6638), GP9(2815), GP1BB(2812), FGFR1(2260), TAC3(6866), BCS1L(617), BBS12(166379), POLG(5428), TACR3(6870), AIRE(326), PDSS2(57107), CUL4B(8450), NDN(4692), PHF6(84295), GNRHR(2798), GNRH1(2796), FGD1(2245), PDSS1(23590), CYP21A2(1589), CYP19A1(1588), CYP17A1(1586), TTC8(123016), CYP11B1(1584), BSCL2(26580), CNBP(7555), GNAS(2778), LHCGR(3973), SLC37A4(2542), LHB(3972), VPS13B(157680), SLC39A4(55630), KAL1(3730), BBS1(582), BBS2(583), G6PC(2538), BBS4(585), PCSK1(5122), BBS10(79738), BBS7(55212), ALMS1(7840), AR(367), CHD7(55636), DMPK(1760), ARSE(415), ERCC2(2068), TRIM32(22954), ERCC3(2071), STS(412), ARL6(84100), TBX3(6926), PROP1(5626), CTNS(1497), ITGB3(3690), SOX2(6657), GALT(2592), PMM2(5373), LHX3(8022), ITGA2B(3674), TSC1(7248), BLM(641), TSC2(7249), WT1(7490), FOXL2(668), MKS1(54903), KISS1R(84634), NR0B1(190), WNT4(54361), RECQL4(9401), BMPR1B(658), CTDP1(9150), SRY(6736), WHCR(7467), INSR(3643), WHSC1(7468), ATM(472), ERCC8(1161), CEP290(80184), EIF2B2(8892), PTPN11(5781), EIF2B5(8893), DHCR7(1717), EIF2B4(8890), WRN(7486), SLC17A3(10786), EIF2B3(8891), EIF2B1(1967), ABCD1(215), HFE(3077), STAR(6770), COQ9(57017), ALG1(56052), PCNT(5116), TP63(8626), FANCA(2175), ALDOA(226), SEMA3E(9723), PPP1R3A(5506), VWF(7450), SSTR5(6755), AGPAT2(10555), F10(2159), APTX(54840), CABC1(56997), F5(2153)]
PUFFY CHEEKS(HP:0002262)	[PCCB(5096), PCCA(5095)]
PUFFY EYELIDS(HP:0000626)	[ABCD3(5825), PEX2(5828), GNPTAB(79158), ADAMTS2(9509)]
PULMONARY AGENESIS, USUALLY BILATERAL(HP:0006550)	[STRA6(64220)]
PULMONARY ARTERIOVENOUS MALFORMATION(HP:0006548)	[ENG(2022), SMAD4(4089), ACVRL1(94)]
PULMONARY ARTERY ANEURYSM(HP:0004937)	[TGFBR1(7046)]
PULMONARY ARTERY ATRESIA(HP:0004935)	[CRELD1(78987), STRA6(64220)]
PULMONARY ARTERY DILATATION(HP:0004927)	[FBN1(2200)]
PULMONARY ARTERY HYPOPLASIA(HP:0004971)	[MGP(4256)]
PULMONARY ARTERY SLING(HP:0004961)	[ZEB2(9839)]
PULMONARY ARTERY STENOSIS(HP:0004415)	[ELN(2006), SLC2A10(81031), ZEB2(9839), GPC6(10082), MGP(4256), JAG1(182)]
PULMONARY ARTERY VASOCONSTRICTION(HP:0005308)	[SMAD9(4093), BMPR2(659)]
PULMONARY CAPILLARY HEMANGIOMATOSIS(HP:0005954)	[CCND1(595), VHL(7428)]
PULMONARY EMBOLISM(HP:0002204)	[SERPINC1(462), PROC(5624), PROS1(5627)]
PULMONARY FIBROSIS(HP:0002206)	[TINF2(26277), AP3B1(8546), TERC(7012), SFTPA2(729238), TERT(7015), DKC1(1736)]
PULMONARY FIBROSIS DUE TO RECURRENT INFECTIONS(HP:0006523)	[AP3B1(8546)]
PULMONARY HYPERTENSION(HP:0002092)	[LIPA(3988), SLC37A4(2542), GJA1(2697), GBA(2629), SLC17A3(10786), FOXF1(2294), COL1A1(1277), ACVRL1(94), SMAD9(4093), FLNA(2316), LIFR(3977), BMPR2(659)]
PULMONARY HYPOPLASIA(HP:0002089)	[PEX19(5824), HSPG2(3339), RET(5979), MKKS(8195), PEX5(5830), RAPSN(5913), STRA6(64220), ZMPSTE24(10269), SLC26A2(1836), GLE1(2733), FAM20C(56975), WNT3(7473), NSDHL(50814), NPHP3(27031), FREM2(341640), PEX26(55670), CHRNA1(1134), UPK3A(7380), FRAS1(80144), PEX10(5192), PKHD1(5314), PEX14(5195), LRP2(4036), PEX13(5194), PEX1(5189), PEX3(8504), ETFDH(2110), ETFB(2109), LIFR(3977), ETFA(2108), INVS(27130), LBR(3930), MKS1(54903), DOK7(285489), CHRNG(1146), GBA(2629), CHRND(1144)]
PULMONARY INFILTRATES(HP:0002113)	[GBA(2629), SFTPB(6439), PDGFRA(5156)]
PULMONARY VENOOCCLUSIVE DISEASE(HP:0006518)	[BMPR2(659)]
PULMONIC STENOSIS(HP:0001642)	[FBN1(2200), GPC3(2719), ZEB2(9839), B3GALTL(145173), STRA6(64220), KRAS(3845), BRAF(673), PTPN11(5781), MAP2K1(5604), MAP2K2(5605), SOS1(6654), HRAS(3265), ZIC3(7547), RAB23(51715)]
PULMONIC VALVE MYXOMA(HP:0006691)	[PRKAR1A(5573)]
PULP STONES(HP:0003771)	[DSPP(1834), KL(9365), GALNT3(2591), FGF23(8074)]
PULSATILE TINNITUS(HP:0008629)	[SDHD(6392), SDHC(6391), SDHB(6390), SDHAF2(54949)]
PULSATILE TINNITUS (TYMPANIC PARAGANGLIOMA)(HP:0000361)	[SDHD(6392), SDHC(6391), SDHAF2(54949)]
PUNCTATE CALCIFICATIONS OF TARSALS(HP:0008131)	[EBP(10682)]
PUNCTATE CORNEAL DYSTROPHY(HP:0007809)	[TGFBI(7045)]
PUNCTATE LENTICULAR OPACITIES(HP:0007648)	[SEC23A(10484)]
PUNCTATE PALMOPLANTAR HYPERKERATOSIS(HP:0007530)	[KRT5(3852)]
PURE GONADAL DYSGENESIS(HP:0003243)	[WT1(7490)]
PURPLISH STRIAE(HP:0001066)	[AIP(9049)]
PURPURA(HP:0000979)	[ITGB3(3690), GP1BA(2811), TTR(7276), ITGA2B(3674), WAS(7454), GP9(2815), GBA(2629), HOXA11(3207), GP1BB(2812), TREX1(11277), AIP(9049)]
PURSED LIPS(HP:0000205)	[HSPG2(3339), MYH3(4621), LIFR(3977)]
PYLORIC STENOSIS(HP:0002021)	[MED12(9968), LAMB3(3914), NPHS1(4868), DHCR7(1717), LAMC2(3918), TBX3(6926), FGFR2(2263), TFAP2A(7020), NIPBL(25836), MTM1(4534), LAMA3(3909)]
PYODERMA(HP:0000999)	[BTK(695)]
PYRAMIDAL SIGNS (LESS COMMON)(HP:0003488)	[MFN2(9927)]
PYRAMIDAL SKINFOLD EXTENDING FROM THE BASE TO THE TOP OF THE NAILS(HP:0009758)	[IRF6(3664)]
PYRAMIDAL TRACT DYSFUNCTION(HP:0007275)	[HEXB(3074), SPTBN2(6712)]
PYRAMIDAL TRACT HYPOPLASIA(HP:0007348)	[FKTN(2218)]
PYROPOIKILOCYTOSIS(HP:0004839)	[SPTB(6710), SPTA1(6708)]
QUADRICEPS APLASIA(HP:0009788)	[LMX1B(4010)]
QUADRICEPS MUSCLE ATROPHY(HP:0009050)	[LMNA(4000)]
QUADRICEPS MUSCLE WEAKNESS(HP:0003731)	[LMNA(4000), TRIM32(22954)]
RACHITIC ROSARY(HP:0000897)	[ALPL(249), CTNS(1497)]
RADIAL APLASIA/HYPOPLASIA(HP:0005718)	[RECQL4(9401)]
RADIAL BOWING(HP:0002986)	[NPR2(4882), HOXA11(3207), GDF5(8200), MMP13(4322), WNT7A(7476), SHOX(6473), FLNA(2316), LEPRE1(64175), FLNB(2317)]
RADIAL DEVIATION OF FINGERS(HP:0009466)	[EP300(2033), ATRX(546), TWIST1(7291), BBS5(129880), TRIM32(22954), TBX15(6913), ATR(545), ARL6(84100), NSD1(64324), H19(283120), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), ESCO2(157570), NOG(9241), ALX3(257), CRLF1(9244), EMG1(10436), IHH(3549), UBR1(197131), NKX2-5(1482), BBS9(27241), BMP4(652), B3GALTL(145173), ROR2(4920), BLM(641), ABCC8(6833), MKS1(54903), GJA1(2697), CREBBP(1387), RAB23(51715), PTH1R(5745), JAG1(182), BMPR1B(658), KCNJ11(3767), MKKS(8195), SNRPN(6638), CD96(10225), FGFR3(2261), GDF5(8200), FGFR2(2263), CEP290(80184), BBS12(166379), LMX1B(4010), INS(3630), MED12(9968), PTPN11(5781), FGF10(2255), GDF1(2657), NDN(4692), IGF1(3479), HOXA11(3207), KCNJ2(3759), HOXA13(3209), FGD1(2245), IGF1R(3480), EVC(2121), PQBP1(10084), TTC8(123016), ACVR1(90), ALG3(10195), GCK(2645), CLCF1(23529), PCNT(5116), BBS1(582), BBS2(583), BBS4(585), KRAS(3845), TFAP2B(7021), NIPBL(25836), EFNB1(1947), TFAP2A(7020), TRPV4(59341), BBS10(79738), ZFPM2(23414), OFD1(8481), FAM123B(139285), BBS7(55212), CUL7(9820), DPAGT1(1798)]
RADIAL DEVIATION OF THE 2ND FINGER(HP:0009467)	[GDF5(8200), IHH(3549), BMPR1B(658), FLNA(2316)]
RADIAL DEVIATION OF THE 3RD FINGER(HP:0009462)	[IHH(3549)]
RADIAL DEVIATION OF THE 4TH FINGER(HP:0009279)	[IHH(3549)]
RADIAL DEVIATION OF THE HAND(HP:0009486)	[SALL4(57167)]
RADIAL DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0009485)	[EP300(2033), ATRX(546), TWIST1(7291), BBS5(129880), TRIM32(22954), TBX15(6913), ATR(545), SALL4(57167), ARL6(84100), NSD1(64324), H19(283120), BRAF(673), FLNA(2316), FLNB(2317), MAP2K1(5604), MAP2K2(5605), ESCO2(157570), NOG(9241), ALX3(257), CRLF1(9244), IHH(3549), EMG1(10436), UBR1(197131), NKX2-5(1482), BBS9(27241), BMP4(652), B3GALTL(145173), ROR2(4920), BLM(641), ABCC8(6833), MKS1(54903), GJA1(2697), CREBBP(1387), RAB23(51715), PTH1R(5745), JAG1(182), BMPR1B(658), KCNJ11(3767), MKKS(8195), SNRPN(6638), CD96(10225), FGFR3(2261), GDF5(8200), FGFR2(2263), CEP290(80184), BBS12(166379), LMX1B(4010), INS(3630), MED12(9968), PTPN11(5781), FGF10(2255), GDF1(2657), NDN(4692), IGF1(3479), HOXA11(3207), KCNJ2(3759), HOXA13(3209), FGD1(2245), IGF1R(3480), EVC(2121), PQBP1(10084), TTC8(123016), ACVR1(90), ALG3(10195), GCK(2645), CLCF1(23529), PCNT(5116), BBS1(582), BBS2(583), BBS4(585), KRAS(3845), TFAP2B(7021), TFAP2A(7020), NIPBL(25836), EFNB1(1947), TRPV4(59341), BBS10(79738), ZFPM2(23414), OFD1(8481), FAM123B(139285), BBS7(55212), CUL7(9820), DPAGT1(1798)]
RADIAL HEAD SUBLUXATION(HP:0003048)	[GLI3(2737)]
RADIAL RAY HYPOPLASIA(HP:0005014)	[SALL4(57167)]
RADIOHUMERAL SYNOSTOSIS(HP:0003041)	[FGFR1(2260), POR(5447), FGFR2(2263)]
RADIOLUCENT METAPHYSES HAVE ABNORMAL TRABECULAR PATTERN(HP:0006360)	[LIFR(3977)]
RADIOULNAR DISLOCATION(HP:0006439)	[CANT1(124583)]
RADIOULNAR SYNOSTOSIS(HP:0002974)	[WHCR(7467), HOXD13(3239), WHSC1(7468), TWIST1(7291), HOXA11(3207), POR(5447), SALL4(57167), FGFR2(2263), B4GALT7(11285)]
RAGGED-RED MUSCLE FIBERS(HP:0003200)	[UQCRB(7381), TK2(7084), COQ9(57017), SDHA(6389), BCS1L(617), POLG(5428), C10orf2(56652), PDSS2(57107), SLC25A4(291), COQ2(27235), UQCRQ(27089), PDSS1(23590), APTX(54840), TYMP(1890), SDHAF1(644096), CABC1(56997)]
RAPID LOSS OF RENAL FUNCTION(HP:0008671)	[PRTN3(5657)]
RAPID NEUROLOGIC DETERIORATION(HP:0007307)	[SUMF1(285362)]
RAPIDLY PROGRESSIVE(HP:0003678)	[PRNP(5621), PLEKHG5(57449), DYSF(8291), CCT5(22948), SGCG(6445), POLG(5428), ATP13A2(23400), SNCA(6622), HADHB(3032), PSEN1(5663), PANK2(80025), TREX1(11277), GDAP1(54332), HADHA(3030)]
RAREFACTION OF RETINAL PIGMENTATION(HP:0007961)	[FLNB(2317)]
RAREFACTION OF THE METAPHYSES(HP:0004980)	[LIFR(3977)]
RECEDING CHIN(HP:0002053)	[UPK3A(7380), RET(5979)]
RECTAL ABSCESS(HP:0005224)	[NCF2(4688), ITGB2(3689), NCF1(653361), VANGL1(81839), CYBA(1535), CYBB(1536)]
RECTAL BLEEDING(HP:0002609)	[SMAD4(4089), PTEN(5728), BMPR1A(657)]
RECTAL PROLAPSE(HP:0002035)	[CFTR(1080), STK11(6794), RPS6KA3(6197), CCBE1(147372), SMAD4(4089), BMPR1A(657)]
RECTOVAGINAL FISTULA(HP:0000143)	[MKKS(8195), SALL1(6299), SALL4(57167), RECQL4(9401), MNX1(3110), UBR1(197131)]
RECURRENT ASPIRATION PNEUMONIA(HP:0002106)	[GBA(2629)]
RECURRENT BACTERIAL INFECTIONS(HP:0002718)	[CD40LG(959), TNFRSF13B(23495), CIITA(4261), NCF2(4688), ITGB2(3689), NCF1(653361), RAG2(5897), RAG1(5896), BTK(695), CFH(3075), TBCE(6905), ADA(100), SLC37A4(2542), CD8A(925), LYST(1130), DCLRE1C(64421), C3(718), RFXANK(8625), CYBA(1535), IL2RG(3561), CYBB(1536), CFI(3426), GJB2(2706), CFD(1675), AICDA(57379), RFX5(5993), RAB27A(5873), C8A(731), RFXAP(5994), WAS(7454), AP3B1(8546), C8B(732), PNP(4860), CTSC(1075), UNG(7374), SLC35A1(10559), ICOS(29851), MAN2B1(4125), C5(727)]
RECURRENT BACTERIAL MENINGITIS(HP:0007274)	[IL2RG(3561)]
RECURRENT BACTERIAL SKIN INFECTIONS(HP:0005406)	[CTSC(1075), GJB2(2706)]
RECURRENT BACTERIAL, VIRAL, AND FUNGAL INFECTIONS(HP:0005388)	[ADA(100)]
RECURRENT BRONCHITIS(HP:0002785)	[MGP(4256), GNPTAB(79158)]
RECURRENT CEREBRAL AND CEREBELLAR HEMORRHAGE(HP:0004968)	[APP(351)]
RECURRENT CHEST INFECTIONS(HP:0004884)	[COL6A1(1291), COL6A2(1292), COL6A3(1293)]
RECURRENT CORNEAL EROSIONS(HP:0000495)	[FOXC2(2303), IKBKAP(8518), FGF10(2255), NTRK1(4914), FGFR3(2261), KIAA1279(26128), TGFBI(7045), GJB2(2706)]
RECURRENT CUTANEOUS AND SYSTEMIC PYOGENIC INFECTIONS(HP:0005429)	[LYST(1130)]
RECURRENT DEEP VEIN THROMBOSIS(HP:0004850)	[SERPIND1(3053), PROS1(5627)]
RECURRENT EPISODES OF ACIDOSIS(HP:0005963)	[CTNS(1497)]
RECURRENT FRACTURES(HP:0002757)	[TNFSF11(8600), CLCN7(1186), CLCN5(1184), SQSTM1(8878), STAT3(6774), CRTAP(10491), FZD4(8322), VDR(7421), CYP2R1(120227), CYP27B1(1594), ALPL(249), FAM20C(56975), SLC34A3(142680), COL1A2(1278), PPIB(5479), COL1A1(1277), TNFRSF11A(8792), SMS(6611), CASR(846), LEPRE1(64175)]
RECURRENT HYPOGLYCEMIC EPISODES(HP:0001988)	[MRAP(56246), DBH(1621), MC2R(4158)]
RECURRENT INFANTILE HYPOGLYCEMIA(HP:0004914)	[HADHB(3032)]
RECURRENT INFECTIONS(HP:0002719)	[CD40LG(959), ERCC2(2068), SPINK5(11005), ERCC3(2071), PRPS1(5631), CIITA(4261), ITGB2(3689), NPHS1(4868), SLC46A1(113235), BTK(695), MC2R(4158), CD8A(925), AGA(175), LYST(1130), CYBA(1535), IL2RG(3561), PEPD(5184), CFI(3426), GJB2(2706), RFX5(5993), GTF2H5(404672), RAB27A(5873), RFXAP(5994), AP3B1(8546), DOCK8(81704), UMPS(7372), UNG(7374), ICOS(29851), MAN2B1(4125), MANBA(4126), INSR(3643), TNFRSF13B(23495), NBN(4683), AIRE(326), NCF2(4688), RMRP(6023), DGCR(1714), CEBPE(1053), NCF1(653361), RAG2(5897), RAG1(5896), CFH(3075), SMARCAL1(50485), LMNB2(84823), ADA(100), TBCE(6905), SLC37A4(2542), SLC39A4(55630), C3(718), DCLRE1C(64421), ROBLD3(28956), TBX1(6899), RFXANK(8625), CYBB(1536), TAZ(6901), CFD(1675), AICDA(57379), C8A(731), WAS(7454), C8B(732), ANTXR2(118429), PNP(4860), CTSC(1075), CARD9(64170), SLC35A1(10559), C5(727)]
RECURRENT INFECTIONS DUE TO ASPIRATION(HP:0004891)	[IKBKAP(8518)]
RECURRENT INFECTIONS IN INFANCY AND EARLY CHILDHOOD(HP:0005437)	[TAZ(6901)]
RECURRENT LOCAL AND SYSTEMIC INFECTIONS, ESP GRAM-NEGATIVE(HP:0005395)	[C5(727)]
RECURRENT LOSS OF TOENAILS AND FINGERNAILS(HP:0008390)	[LAMA3(3909)]
RECURRENT LOWER RESPIRATORY TRACT INFECTIONS(HP:0002783)	[PLOD1(5351), STAT3(6774), RFXANK(8625), DDR2(4921), CIITA(4261), AICDA(57379), RFX5(5993), RFXAP(5994), WAS(7454), DOCK8(81704), PNP(4860), UNG(7374), CASP8(841)]
RECURRENT MAJOR BACTERIAL INFECTIONS(HP:0005393)	[WAS(7454)]
RECURRENT MANDIBULAR SUBLUXATIONS(HP:0005332)	[ADAMTS2(9509)]
RECURRENT MENINGITIS(HP:0006946)	[IL2RG(3561), CFI(3426)]
RECURRENT MENINGOCOCCAL DISEASE(HP:0005381)	[CFH(3075), CFI(3426)]
RECURRENT MYOGLOBINURIA(HP:0003652)	[PDSS2(57107), HADHB(3032), COQ9(57017), COQ2(27235), PDSS1(23590), APTX(54840), CABC1(56997)]
RECURRENT NEISSERIAL INFECTIONS(HP:0005430)	[C8B(732), CFH(3075), CFI(3426), CFD(1675)]
RECURRENT OR INCISIONAL HERNIA(HP:0004872)	[FBN1(2200)]
RECURRENT OTITIS MEDIA(HP:0000403)	[IDS(3423), LBR(3930), DHCR7(1717), TP63(8626), FGFR3(2261), COL2A1(1280), MGP(4256), GNPTAB(79158), FLNA(2316), CFI(3426)]
RECURRENT OTITIS MEDIA IN INFANCY(HP:0008624)	[FGFR3(2261)]
RECURRENT OTITIS MEDIA IN INFANCY AND CHILDHOOD(HP:0008622)	[FGFR3(2261)]
RECURRENT PNEUMONIA(HP:0002095)	[GJA1(2697), ALMS1(7840), NBN(4683), FMO3(2328), COL11A2(1302), GNPTAB(79158)]
RECURRENT RESPIRATORY INFECTIONS(HP:0002205)	[PLOD1(5351), RPGR(6103), EFEMP2(30008), MGP(4256), PRPS1(5631), FLNA(2316), CIITA(4261), IKBKAP(8518), MAPK10(5602), GNPTAB(79158), NKX2-1(7080), AGA(175), IL2RG(3561), DDR2(4921), CFI(3426), RFX5(5993), RAB3GAP2(25782), RFXAP(5994), DOCK8(81704), MBTPS2(51360), PLG(5340), UNG(7374), TRPS1(7227), ATM(472), LOX(4015), NBN(4683), MECP2(4204), COL6A1(1291), FBLN5(10516), RAG2(5897), COL6A2(1292), RAG1(5896), COL6A3(1293), FUCA1(2517), STAT3(6774), DCLRE1C(64421), RFXANK(8625), AICDA(57379), TAP1(6890), DLL3(10683), TAP2(6891), OFD1(8481), WAS(7454), TAPBP(6892), PNP(4860), ALPL(249), GAA(2548), CXCR4(7852), IGKC(3514), CASP8(841), SMPD1(6609)]
RECURRENT SINOPULMONARY INFECTIONS(HP:0005425)	[STAT3(6774), DOCK8(81704), CASP8(841)]
RECURRENT SKIN INFECTIONS(HP:0001581)	[BTD(686), CFI(3426)]
RECURRENT STAPHYLOCOCCAL AND GRAM-NEGATIVE INFECTIONS(HP:0005420)	[ITGB2(3689)]
RECURRENT SUBCORTICAL INFARCTS(HP:0007236)	[NOTCH3(4854)]
RECURRENT SYMPTOMS AND SIGNS OF INTESTINAL OBSTRUCTION(HP:0005239)	[FLNA(2316)]
RECURRENT THROMBOEMBOLIC DISEASE(HP:0004831)	[HRG(3273)]
RECURRENT THROMBOPHLEBITIS(HP:0004419)	[SERPINC1(462)]
RECURRENT UPPER AND LOWER RESPIRATORY TRACT INFECTIONS(HP:0002873)	[STAT3(6774), DOCK8(81704), UNG(7374), CASP8(841), AICDA(57379)]
RECURRENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0002788)	[STAT3(6774), ATM(472), DCLRE1C(64421), PRPS1(5631), NBN(4683), MGP(4256), RFXANK(8625), IL2RG(3561), AICDA(57379), CIITA(4261), TAP1(6890), RFX5(5993), TAP2(6891), OFD1(8481), RFXAP(5994), WAS(7454), TAPBP(6892), DOCK8(81704), PNP(4860), PLG(5340), CXCR4(7852), UNG(7374), CASP8(841), GNPTAB(79158)]
RECURRENT URINARY TRACT INFECTIONS(HP:0000010)	[RFX5(5993), CLDN19(149461), RFXAP(5994), CLDN16(10686), NBN(4683), RFXANK(8625), MNX1(3110), CFI(3426), CIITA(4261)]
RECURRENT VIRAL INFECTIONS(HP:0004429)	[RFX5(5993), RMRP(6023), CD8A(925), RFXAP(5994), RAG2(5897), DOCK8(81704), DCLRE1C(64421), RAG1(5896), BTK(695), RFXANK(8625), IL2RG(3561), CIITA(4261)]
RECURRING PANCREATITIS(HP:0100027)	[CDC73(79577)]
RED CELL ACANTHOCYTOSIS(HP:0001927)	[PANK2(80025), APOB(338), VPS13A(23230), SC5DL(6309)]
RED HAIR(HP:0002297)	[PRKAR1A(5573), ZNF469(84627)]
RED SERIES DEFECT(HP:0200019)	[OPN1LW(5956)]
RED-GREEN DYSCHROMATOPSIA(HP:0000642)	[OPA1(4976)]
REDUCED BONE MINERAL DENSITY(HP:0004349)	[FBN1(2200), AVP(551), FBN2(2201), PLOD1(5351), PEX2(5828), VDR(7421), HSD17B4(3295), ERCC6(2074), BRAF(673), B4GALT7(11285), PLOD2(5352), CTNS(1497), MAP2K1(5604), MAP2K2(5605), FAH(2184), PDE11A(50940), SLC7A7(9056), PMM2(5373), ANO5(203859), GLB1(2720), SC5DL(6309), CANT1(124583), CRTAP(10491), PEX1(5189), AIP(9049), GALNS(2588), DKC1(1736), LRP5(4041), GK(2710), UROS(7390), LBR(3930), PRKAR1A(5573), FSHR(2492), SLC17A5(26503), SLC12A1(6557), GNPAT(8443), COL1A2(1278), ATP7B(540), RECQL4(9401), NAGA(4668), COL1A1(1277), PTH1R(5745), RAB3GAP1(22930), MGAT2(4247), ATP7A(538), ADAMTS2(9509), HSPG2(3339), TRPS1(7227), SNRPN(6638), LMNA(4000), OCRL(4952), FGF23(8074), CYP2R1(120227), NDN(4692), CYP27B1(1594), IGF1(3479), WRN(7486), SLC2A2(6514), CYP27A1(1593), KCNJ1(3758), CBS(875), HFE(3077), SLC4A1(6521), PEX26(55670), SMARCAL1(50485), ADAMTSL2(9719), GNAS(2778), SLC37A4(2542), CLCN5(1184), PHEX(5251), STAT3(6774), TNFRSF11B(4982), G6PC(2538), KRAS(3845), EIF2AK3(9451), LIFR(3977), PCCB(5096), ANTXR2(118429), MMP2(4313), GORAB(92344), ALPL(249), SLC34A3(142680), SMS(6611), SMPD1(6609), PCCA(5095)]
REDUCED CONSCIOUSNESS/CONFUSION(HP:0004372)	[PRNP(5621), AMT(275), AMN(81693), CPT1A(1374), BTD(686), CPS1(1373), FBP1(2203), MMADHC(27249), GLUD1(2746), CPOX(1371), MMAA(166785), SH2D1A(4068), NAGS(162417), NSD1(64324), NDUFAF2(91942), OTC(5009), HMGCL(3155), FLNA(2316), MCCC1(56922), SLC16A1(6566), SLC22A5(6584), SLC7A7(9056), GLDC(2731), CUBN(8029), BTK(695), HLCS(3141), MC2R(4158), DNMT3B(1789), ACADM(34), TCN2(6948), ACADS(35), NDUFAF3(25915), ASS1(445), ACADSB(36), ACADVL(37), ASL(435), DLD(1738), ETFDH(2110), ETFB(2109), ABCC8(6833), ETFA(2108), CACNA1A(773), ADAMTS13(11093), C20orf7(79133), DBT(1629), MRPS16(51021), CPT2(1376), ATP1A2(477), PDHA1(5160), INSR(3643), FGFR1(2260), FGFR2(2263), LMBRD1(55788), MUT(4594), EIF2B2(8892), EIF2B5(8893), SLC2A1(6513), EIF2B4(8890), NDUFA1(4694), EIF2B3(8891), EIF2B1(1967), CFH(3075), HCRT(3060), MMAB(326625), GCK(2645), TBP(6908), NDUFA11(126328), NDUFAF4(29078), GCSH(2653), NDUFS1(4719), MMACHC(25974), PCCB(5096), BCKDHA(593), DPYS(1807), NDUFV1(4723), SNCA(6622), HADHB(3032), NDUFS2(4720), OFD1(8481), HADH(3033), SNCB(6620), BCKDHB(594), NDUFS6(4726), IVD(3712), MTRR(4552), NDUFS4(4724), PCCA(5095), PAX8(7849)]
REDUCED CREATININE CLEARANCE(HP:0000120)	[CLCN5(1184), SLC37A4(2542), SLC17A3(10786), G6PC(2538)]
REDUCED DELAYED HYPERSENSITIVITY(HP:0002972)	[RAB27A(5873), FAS(355), CASP10(843)]
REDUCED IGA LEVELS(HP:0008350)	[ATM(472)]
REDUCED IGG LEVELS, PARTICULARLY THE IGG2 SUBCLASS(HP:0008348)	[ATM(472)]
REDUCED IMMUNOGLOBULIN LEVELS(HP:0004313)	[CD40(958), CD40LG(959), SH2D1A(4068), ERCC2(2068), ATM(472), ERCC3(2071), TNFRSF13B(23495), HBG1(3047), CIITA(4261), B2M(567), RAG2(5897), RAG1(5896), BTK(695), PMM2(5373), TCN2(6948), CNBP(7555), DCLRE1C(64421), ROBLD3(28956), SP110(3431), RFXANK(8625), IL2RG(3561), BLM(641), RFX5(5993), PCCB(5096), GTF2H5(404672), RFXAP(5994), WAS(7454), CXCR4(7852), ICOS(29851), MAN2B1(4125), PCCA(5095)]
REDUCED IRIS PIGMENTATION(HP:0007730)	[LYST(1130)]
REDUCED NUMBER OF T CELLS(HP:0005403)	[RAG2(5897), ATM(472), RAG1(5896), DNMT3B(1789)]
REDUCED NUMBER OF TEETH(HP:0009804)	[BBS5(129880), TRIM32(22954), RPS6KA3(6197), ATR(545), CLDN1(9076), ARL6(84100), CCBE1(147372), TBX3(6926), FLNA(2316), EDARADD(128178), FLNB(2317), EDA(1896), IKBKG(8517), ITGB4(3691), SH3BP2(6452), UBR1(197131), BBS9(27241), LAMB3(3914), LAMC2(3918), BCOR(54880), IRF6(3664), LRP5(4041), LAMA3(3909), MKS1(54903), GJA1(2697), RECQL4(9401), WNT10A(80326), RAB23(51715), CTSK(1513), MSX1(4487), ADAMTS2(9509), MKKS(8195), WHCR(7467), WHSC1(7468), COL17A1(1308), EVC2(132884), FGFR3(2261), CEP290(80184), BBS12(166379), CDH3(1001), RMRP(6023), FGF10(2255), KCNJ2(3759), FGD1(2245), EDAR(10913), EVC(2121), TTC8(123016), PITX2(5308), BBS1(582), BBS2(583), TP63(8626), BBS4(585), PORCN(64840), BBS10(79738), OFD1(8481), BBS7(55212), PVRL1(5818)]
REDUCED OR ABOLISHED ELECTRORETINOGRAM(HP:0007689)	[PPT1(5538)]
REDUCED PANCREATIC BETA CELLS(HP:0006274)	[EIF2AK3(9451)]
REDUCED PENETRANCE(HP:0003830)	[ATP1A3(478), LGI1(9211), SHH(6469), ATP1A2(477), LRRK2(120892), ATL1(51062), ATXN10(25814), SGCE(8910), DRD2(1813), MNX1(3110), CACNA1S(779)]
REDUCED REFLEXES(HP:0001315)	[AMT(275), BIN1(274), MYOT(9499), SACS(26278), SETX(23064), GAN(8139), VAPB(9217), MYF6(4618), IKBKAP(8518), GLDC(2731), RAB7A(7879), TYMP(1890), ATXN1(6310), ATXN2(6311), SBF2(81846), LYST(1130), HSPB1(3315), KIF1B(23095), PEX10(5192), PEX14(5195), PEX13(5194), DYSF(8291), PEX1(5189), GJB1(2705), C10orf2(56652), C20orf7(79133), MPZ(4359), LITAF(9516), ALDH5A1(7915), RAI1(10743), SLC12A6(9990), TCAP(8557), SAR1B(51128), APOB(338), LMNA(4000), NDRG1(10397), ALG6(29929), OCRL(4952), POLG(5428), PRPS2(5634), PSAP(5660), MED25(81857), HSPB8(26353), BSND(7809), NDUFA1(4694), PEX26(55670), NEB(4703), SMN1(6606), SMCR(6600), NDUFA11(126328), NDUFAF4(29078), PEX3(8504), NDUFS1(4719), LIFR(3977), TRPV4(59341), WNK1(65125), NDUFV1(4723), NDUFS2(4720), SNAP29(9342), NDUFS6(4726), IGHMBP2(3508), NDUFS4(4724), GAA(2548), PMP22(5376), AR(367), SMPD1(6609), LDB3(11155), PRNP(5621), ARSA(410), PEX19(5824), ABCD3(5825), PEX2(5828), ERCC2(2068), PEX5(5830), TRIM32(22954), NEFL(4747), PRPS1(5631), ERCC6(2074), PLP1(5354), NDUFAF2(91942), GARS(2617), MTM1(4534), SOX10(6663), ATXN3(4287), TTPA(7274), PMM2(5373), DNM2(1785), PLEKHG5(57449), LAMB2(3913), NDUFAF3(25915), VPS13A(23230), FGD4(121512), PRX(57716), JAG1(182), DMD(1756), XPA(7507), HSPG2(3339), ATM(472), ST3GAL5(8869), CRYAB(1410), EGR2(1959), GDAP1(54332), FXN(2395), ALG1(56052), MFN2(9927), CLCNKB(1188), GCSH(2653), DES(1674), GBE1(2632), APTX(54840)]
REDUCED SUBCUTANEOUS ADIPOSE TISSUE(HP:0003758)	[PPP1R3A(5506), FBN1(2200), LMNB2(84823), PPARG(5468), INSR(3643), LMNA(4000), ERCC8(1161), ERCC6(2074), ZMPSTE24(10269)]
REDUCED SYSTOLIC FUNCTION(HP:0006673)	[SCN5A(6331)]
REDUCED VISUAL ACUITY BY AGE 3 YEARS(HP:0007983)	[INPP5E(56623)]
REDUCED VITAL CAPACITY(HP:0002792)	[SEPN1(57190), MYH7(4625)]
REDUNDANT NECK SKIN(HP:0005989)	[PEX19(5824), PEX10(5192), PEX14(5195), PEX5(5830), PEX13(5194), PEX1(5189), MRPS16(51021), PEX3(8504), PEX26(55670)]
REDUNDANT SKIN FOLDS(HP:0007391)	[PEX19(5824), PEX10(5192), PEX14(5195), PEX5(5830), PEX13(5194), PEX1(5189), PEX3(8504), PEX26(55670)]
REDUNDANT SKIN FOLDS OF NECK(HP:0005996)	[PEX19(5824), PEX10(5192), PEX14(5195), PEX5(5830), PEX13(5194), PEX1(5189), PEX3(8504), PEX26(55670)]
REDUNDANT SKIN OVER THE NECK(HP:0005993)	[MRPS16(51021)]
REFRACTORY ANEMIA(HP:0005505)	[TBXAS1(6916), RPS14(6208)]
REFRACTORY MACROCYTIC ANEMIA(HP:0004861)	[RPS14(6208)]
RELATIVE MACROCEPHALY(HP:0004482)	[MAP2K1(5604), MAP2K2(5605), FH(2271), NF1(4763), KRAS(3845), IHH(3549), BRAF(673)]
RELATIVELY SHORT SPINE(HP:0002766)	[TRPV4(59341)]
RENAL AGENESIS(HP:0000104)	[RET(5979), ATRX(546), INSL3(3640), SALL4(57167), FGFR3(2261), PTPN11(5781), FGF10(2255), DHCR7(1717), RXFP2(122042), DGCR(1714), HNF1B(6928), CECR(1055), FANCD2(2177), FANCC(2176), WNT3(7473), NSDHL(50814), FREM2(341640), FANCE(2178), UPK3A(7380), FRAS1(80144), KAL1(3730), TP63(8626), FANCA(2175), TBX1(6899), TFAP2A(7020), SEMA3E(9723), MKS1(54903), PROKR2(128674), CHD7(55636)]
RENAL AGENESIS/HYPOPLASIA(HP:0004744)	[FRAS1(80144), NSDHL(50814), FREM2(341640)]
RENAL AMINOACIDURIA(HP:0008335)	[SUCLG1(8802)]
RENAL AMYLOIDOSIS(HP:0001917)	[TTR(7276), MEFV(4210), NLRP3(114548), APOA1(335)]
RENAL ARTERY STENOSIS(HP:0001920)	[RET(5979), KIF1B(23095), NF1(4763), SDHD(6392), SDHB(6390), VHL(7428)]
RENAL BIOPSY SHOWS TUBULOINTERSTITIAL FIBROSIS(HP:0004714)	[BSND(7809), CLCNKB(1188)]
RENAL CELL CARCINOMA(HP:0005584)	[FH(2271), DIRC2(84925), FLCN(201163), HNF1A(6927), SDHB(6390), CDC73(79577), TSC1(7248), TSC2(7249), VHL(7428), RNF139(11236), CCND1(595), HRAS(3265), OGG1(4968), PRCC(5546), FN1(2335)]
RENAL CELL CARCINOMA, SOLITARY PAPILLARY TYPE II(HP:0006732)	[FH(2271)]
RENAL CORTICAL ADENOMA(HP:0006735)	[CDC73(79577)]
RENAL CORTICAL ATROPHY(HP:0002048)	[HNF1B(6928)]
RENAL CORTICAL CYSTS(HP:0000803)	[PEX19(5824), ABCD3(5825), CD96(10225), PEX2(5828), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), CEP290(80184), PEX3(8504), ETFDH(2110), ETFB(2109), ETFA(2108), INVS(27130), PEX26(55670)]
RENAL CORTICAL MICROCYSTS(HP:0004734)	[PEX19(5824), INVS(27130), PEX10(5192), PEX14(5195), PEX5(5830), PEX13(5194), PEX1(5189), PEX3(8504), PEX26(55670)]
RENAL CYSTS(HP:0000107)	[PEX19(5824), ABCD3(5825), MKKS(8195), CD96(10225), PEX2(5828), PEX5(5830), INPP5E(56623), CEP290(80184), HSD17B4(3295), CDC73(79577), GLI3(2737), EYA1(2138), FLNB(2317), ESCO2(157570), DHCR7(1717), BUB1B(701), NPHP1(4867), HNF1B(6928), PMM2(5373), NPHP3(27031), PKD2(5311), PKD1(5310), PEX26(55670), SALL1(6299), GPC3(2719), TMEM216(51259), PEX10(5192), PEX14(5195), PKHD1(5314), PEX13(5194), PEX1(5189), PEX3(8504), TSC1(7248), ETFDH(2110), TFAP2A(7020), TSC2(7249), NIPBL(25836), ETFB(2109), VHL(7428), ETFA(2108), INVS(27130), MKS1(54903), CCND1(595), OFD1(8481), FAM123B(139285), CPT2(1376), JAG1(182)]
RENAL DUPLICATION(HP:0000075)	[GPC3(2719), TP63(8626), FANCD2(2177), FANCA(2175), FANCC(2176), FANCE(2178), ROR2(4920)]
RENAL DYSPLASIA(HP:0000110)	[FKRP(79147), RET(5979), UPK3A(7380), SALL1(6299), LARGE(9215), TP63(8626), TBX1(6899), EYA1(2138), GATA3(2625), FKTN(2218), HOXD13(3239), ARX(170302), DGCR(1714), NPHP3(27031), POMT1(10585), JAG1(182), POMT2(29954)]
RENAL DYSPLASIA/APLASIA(HP:0004721)	[UPK3A(7380), RET(5979), EYA1(2138)]
RENAL FAILURE(HP:0000083)	[PGK1(5230), CLDN19(149461), PGAM2(5224), HPS5(11234), SCARB2(950), PRPS1(5631), ERCC6(2074), CTNS(1497), FAH(2184), SLC7A7(9056), NPHS1(4868), NPHP1(4867), BLOC1S3(388552), HNF1B(6928), MYH9(4627), LPIN1(23175), GLA(2717), SALL1(6299), LAMB2(3913), PKHD1(5314), IQCB1(9657), WT1(7490), CFI(3426), LCAT(3931), INVS(27130), AGXT(189), CPT2(1376), UMOD(7369), HPS6(79803), NPHP4(261734), NPHS2(7827), ERCC8(1161), OCRL(4952), CEP290(80184), LMX1B(4010), PAX2(5076), PRPS2(5634), MUT(4594), MEFV(4210), BSND(7809), SLC17A3(10786), AHI1(54806), GSN(2934), HOXA13(3209), APOA1(335), NPHP3(27031), CFH(3075), COL4A4(1286), PKD2(5311), COL4A5(1287), PKD1(5310), DTNBP1(84062), COL4A3(1285), SMARCAL1(50485), HPRT1(3251), CLCN5(1184), SLC37A4(2542), ABCC6(368), NLRP3(114548), HPS3(84343), CLCNKB(1188), HPS1(3257), MMACHC(25974), EIF2AK3(9451), GATA3(2625), CLDN16(10686), APRT(353), ALMS1(7840), HPS4(89781), SCNN1G(6340), SCNN1B(6338)]
RENAL FAILURE BY AGE 3(HP:0005570)	[INVS(27130)]
RENAL FAILURE IN ADULTHOOD(HP:0000084)	[CLCN5(1184)]
RENAL FANCONI SYNDROME(HP:0001994)	[FAH(2184), COX6B1(1340), FASTKD2(22868), OCRL(4952), CTNS(1497)]
RENAL FUNCTIONAL ABNORMALITY(HP:0000082)	[PLCE1(51196), PGK1(5230), CLDN19(149461), LYZ(4069), VPS33B(26276), PGAM2(5224), HPS5(11234), AVPR2(554), AMBP(259), FAH(2184), IKBKAP(8518), SLC7A7(9056), NPHS1(4868), NPHP1(4867), MYH9(4627), COQ2(27235), GLA(2717), SALL1(6299), TMEM216(51259), DYNC2H1(79659), SLC12A3(6559), SLC17A5(26503), SLC12A1(6557), ATP7B(540), PTH1R(5745), CPT2(1376), UMOD(7369), NPHP4(261734), CYP11A1(1583), NPHS2(7827), EVC2(132884), OCRL(4952), HBB(3043), FGF23(8074), LMX1B(4010), PRPS2(5634), PDSS2(57107), COL4A6(1288), MEFV(4210), PRTN3(5657), BSND(7809), HOXA13(3209), APOA1(335), PDSS1(23590), KCNJ1(3758), COL2A1(1280), CYP21A2(1589), COL4A4(1286), COL4A5(1287), FGA(2243), CYP11B2(1585), DTNBP1(84062), COL4A3(1285), HPRT1(3251), LMNB2(84823), TBCE(6905), SLC37A4(2542), COX6B1(1340), ABCC6(368), HPS3(84343), G6PC(2538), HPS1(3257), NIPBL(25836), AQP2(359), CLDN16(10686), APRT(353), FASTKD2(22868), ALMS1(7840), SCNN1G(6340), CASP10(843), CASR(846), SCNN1A(6337), SCNN1B(6338), SLC4A4(8671), SCARB2(950), PRPS1(5631), ERCC6(2074), PRODH(5625), CTNS(1497), TTR(7276), BLOC1S3(388552), HNF1B(6928), KL(9365), BTK(695), PMM2(5373), FN1(2335), LPIN1(23175), LAMB2(3913), PKHD1(5314), GALNT3(2591), IQCB1(9657), WT1(7490), CFI(3426), LCAT(3931), INVS(27130), ADAMTS13(11093), NR0B1(190), AGXT(189), HPS6(79803), ERCC8(1161), CEP290(80184), PAX2(5076), MUT(4594), SLC17A3(10786), SLC2A2(6514), AHI1(54806), GSN(2934), SLC5A2(6524), NPHP3(27031), CFH(3075), PKD2(5311), PKD1(5310), EVC(2121), SMARCAL1(50485), STAR(6770), COQ9(57017), PHEX(5251), CLCN5(1184), NLRP3(114548), CLCNKB(1188), ALDOB(229), MMACHC(25974), EIF2AK3(9451), GATA3(2625), HPS4(89781), PNP(4860), SLC34A3(142680), APTX(54840), FXYD2(486), PC(5091), CABC1(56997)]
RENAL HYPOPLASIA(HP:0000089)	[BMP4(652), FRAS1(80144), SALL1(6299), ATRX(546), SALL4(57167), STRA6(64220), PTEN(5728), NIPBL(25836), SEMA3E(9723), PAX2(5076), GLI3(2737), DHCR7(1717), HNF1B(6928), FREM2(341640), CHD7(55636)]
RENAL HYPOPLASIA/APLASIA(HP:0008678)	[BMP4(652), FRAS1(80144), SALL1(6299), ATRX(546), SALL4(57167), STRA6(64220), PTEN(5728), NIPBL(25836), SEMA3E(9723), PAX2(5076), GLI3(2737), DHCR7(1717), HNF1B(6928), FREM2(341640), CHD7(55636)]
RENAL INSUFFICIENCY, PROGRESSIVE(HP:0001918)	[CLCN5(1184)]
RENAL JUXTAGLOMERULAR CELL HYPERTROPHY/HYPERPLASIA(HP:0000111)	[SLC12A1(6557), KCNJ1(3758)]
RENAL MAGNESIUM WASTING(HP:0005567)	[CLDN19(149461), CLDN16(10686), SLC12A3(6559), FXYD2(486)]
RENAL NEOPLASIA(HP:0009726)	[FH(2271), DIRC2(84925), FLCN(201163), HNF1A(6927), SDHB(6390), NSD1(64324), CDC73(79577), CDKN1C(1028), BRCA2(675), H19(283120), CDKN2A(1029), RNF139(11236), KCNQ1OT1(10984), TRIM37(4591), BUB1B(701), HRAS(3265), PRCC(5546), FN1(2335), GPC3(2719), TSC1(7248), WT2(7491), TSC2(7249), WT1(7490), VHL(7428), CCND1(595), OGG1(4968), TP53(7157)]
RENAL PELVIC CARCINOMA(HP:0006762)	[HRAS(3265)]
RENAL POTASSIUM WASTING(HP:0000128)	[SLC12A3(6559), SLC12A1(6557), CLCNKB(1188), KCNJ1(3758)]
RENAL SALT WASTING(HP:0000127)	[STAR(6770), CYP11A1(1583), CLCN5(1184), PHEX(5251), CLCNKB(1188), FGF23(8074), NR0B1(190), SLC12A3(6559), BSND(7809), SLC12A1(6557), SLC34A3(142680), SCNN1G(6340), KCNJ1(3758), CYP21A2(1589), SCNN1A(6337), SCNN1B(6338), CYP11B2(1585)]
RENAL TUBULAR ACIDOSIS(HP:0001947)	[CPT1A(1374), CA2(760), SLC4A4(8671), ATP6V1B1(525), PC(5091), FN1(2335), SLC4A1(6521)]
RENAL TUBULAR ACIDOSIS, TYPE I(HP:0008341)	[CA2(760)]
RENAL TUBULAR CELL ATROPHY WITH CORTICOMEDULLARY CYSTS(HP:0005578)	[NPHP4(261734)]
RENAL TUBULAR DYSFUNCTION(HP:0000124)	[TBCE(6905), SLC4A4(8671), PHEX(5251), COX6B1(1340), DYNC2H1(79659), EVC2(132884), ALDOB(229), OCRL(4952), AMBP(259), SLC2A2(6514), FASTKD2(22868), SLC34A3(142680), ATP7B(540), COL2A1(1280), PTH1R(5745), PC(5091), FN1(2335), EVC(2121)]
REPETITIVE COMPULSIVE BEHAVIOR(HP:0008762)	[GRN(2896)]
RESPIRATORY ABNORMALITY(HP:0002086)	[FBN1(2200), FKRP(79147), SUCLG1(8802), FBP1(2203), CHAT(1103), TINF2(26277), SPINK5(11005), CCBE1(147372), DPM1(8813), SLC35C1(55343), HRAS(3265), MATR3(9782), BBS9(27241), GNPTAB(79158), CHRNA1(1134), ACADSB(36), ACADVL(37), SFTPA1(653509), MPL(4352), C20orf7(79133), MPZ(4359), CHRNG(1146), CHRNE(1145), CHRND(1144), POR(5447), ACTA1(58), CHRNB1(1140), SNRPN(6638), UPF3B(65109), FGFR1(2260), FGFR3(2261), FGFR2(2263), POLG(5428), BBS12(166379), ACVRL1(94), ACVR1(90), C8orf38(137682), SMN1(6606), ADA(100), SMCR(6600), SFTPA2(729238), FOXF1(2294), NDUFA11(126328), HPS1(3257), TRPV4(59341), CFTR(1080), HOXD13(3239), FASTKD2(22868), CUL7(9820), SMS(6611), SMPD1(6609), PRNP(5621), ERBB3(2065), ERBB2(2064), ERCC2(2068), TRIM32(22954), SFTPB(6439), ERCC3(2071), ERCC4(2072), PRPS1(5631), STRA6(64220), SGCG(6445), PROC(5624), PROS1(5627), MTM1(4534), BLOC1S3(388552), TMEM67(91147), HMBS(3145), MAPK10(5602), HLCS(3141), PRKCSH(5589), AGA(175), ETFDH(2110), WT1(7490), ETFB(2109), ETFA(2108), AGTR1(185), AGXT(189), COL1A1(1277), AGT(183), CEP290(80184), MUSK(4593), MED12(9968), TRIM37(4591), NCF1(653361), SLC17A3(10786), WNT3(7473), HEXA(3073), GDAP1(54332), HFE(3077), ALAD(210), SMARCAL1(50485), FRAS1(80144), MFN2(9927), VHL(7428), WAS(7454), DLEC1(9940), ALPL(249), VRK1(7443), PPP2R1B(5519), SCN5A(6331), CPOX(1371), NAGS(162417), ANCR(282), HPS5(11234), NSD1(64324), MAPT(4137), SCN2A(6326), SLC7A7(9056), COX15(1355), GNE(10020), UPK3A(7380), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), IL2RG(3561), SCO2(9997), SEC63(11231), SLC12A6(9990), UNG(7374), CPT2(1376), UCHL1(7345), PDHA1(5160), SDHD(6392), SDHC(6391), SDHA(6389), INPP5E(56623), MECP2(4204), TSFM(10102), COL11A2(1302), PDGFRA(5156), COL6A1(1291), COL4A6(1288), MEFV(4210), COL6A2(1292), LEMD3(23592), COL6A3(1293), COL2A1(1280), UBE3A(7337), COL3A1(1281), FUCA1(2517), RASSF1(11186), TTC8(123016), PEX26(55670), SLC37A4(2542), VPS13B(157680), UBA1(7317), COX6B1(1340), PANK2(80025), IGHMBP2(3508), MAP3K8(1326), GAA(2548), IGKC(3514), AR(367), SCNN1B(6338), PLOD1(5351), MGP(4256), FLG(2312), FLNC(2318), PLP1(5354), FLNA(2316), CTNS(1497), CIITA(4261), FLNB(2317), IDS(3423), MID1(4281), FMO3(2328), PKHD1(5314), TSPYL1(7259), TSHB(7252), CYBA(1535), CYB5A(1528), TSC1(7248), TSC2(7249), CFI(3426), CTSD(1509), ASAH1(427), ADAMTS13(11093), ARX(170302), MBTPS2(51360), PLG(5340), PLEC(5339), TRPS1(7227), HSPG2(3339), RYR1(6261), ATM(472), PIK3CA(5290), HSPD1(3329), PRKAG2(51422), CRYAB(1410), SERPINC1(462), TRH(7200), MMAB(326625), DCLRE1C(64421), ALDH7A1(501), HYLS1(219844), SERPINA1(5265), HPS4(89781), TPM3(7170), RET(5979), MMAA(166785), DCTN1(1639), MCCC1(56922), REN(5972), ACE(1636), GLI3(2737), GLE1(2733), NPHS1(4868), THPO(7066), CRLF1(9244), GLB1(2720), TK2(7084), COLQ(8292), GLA(2717), GPC3(2719), NKX2-1(7080), DYNC2H1(79659), CRTAP(10491), DDR2(4921), RFX5(5993), GTF2H5(404672), RAB3GAP2(25782), RFXAP(5994), GJA1(2697), KCNQ2(3785), DBH(1621), GHR(2690), NDUFS7(374291), MKKS(8195), RAPSN(5913), BCS1L(617), SBDS(51119), RAG2(5897), CYP27A1(1593), RAG1(5896), DTNBP1(84062), BBS1(582), BBS2(583), BBS4(585), NDUFAF4(29078), CYBB(1536), NIPBL(25836), BCHE(590), SDHAF2(54949), JAK2(3717), BBS10(79738), GM2A(2760), CCND1(595), FAM123B(139285), DOK7(285489), BTD(686), DMPK(1760), OXCT1(5019), RPGR(6103), EFEMP2(30008), TBX21(30009), ARL6(84100), TBX3(6926), BRAF(673), SLC22A18(5002), TREX1(11277), BTK(695), DNMT3B(1789), GALNS(2588), DKC1(1736), DLD(1738), BLM(641), MKS1(54903), IRF1(3659), DOCK8(81704), C20orf54(113278), DMD(1756), HPS6(79803), ISCU(23479), BMPR2(659), FLCN(201163), TNFRSF13B(23495), ZMPSTE24(10269), DHCR7(1717), DGCR(1714), PARK2(5071), AHI1(54806), FAM20C(56975), CYB5R3(1727), C1R(715), PCNT(5116), TERC(7012), TERT(7015), ROBLD3(28956), TFAP2A(7020), SERPING1(710), PCCB(5096), GBA(2629), PCCA(5095), MYCN(4613), BBS5(129880), SH2D1A(4068), MYH3(4621), EDA(1896), IKBKAP(8518), CDKL5(6792), MYH7(4625), STK11(6794), AURKC(6795), SMAD4(4089), ECM1(1893), SMAD9(4093), SLC25A20(788), SEPN1(57190), LRP2(4036), PTEN(5728), SURF1(6834), AP3B1(8546), RAI1(10743), PTH1R(5745), ICOS(29851), ADAMTS2(9509), PRSS1(5644), HCCS(3052), LOX(4015), HBB(3043), NBN(4683), SLC26A2(1836), NCF2(4688), PSAP(5660), CUL4B(8450), NDN(4692), PRTN3(5657), NDUFA1(4694), NDUFA2(4695), DSC2(1824), NEB(4703), TBP(6908), HPS3(84343), TBX1(6899), PORCN(64840), PEX3(8504), NDUFS1(4719), LIFR(3977), RUNX2(860), EBP(10682), NDUFS3(4722), TAP1(6890), NDUFV1(4723), DLL3(10683), TAP2(6891), NDUFS2(4720), HADHB(3032), LIPA(3988), OFD1(8481), BBS7(55212), NDUFS6(4726), HBA1(3039), ALMS1(7840), NDUFS4(4724), TAPBP(6892), MOGS(7841), CXCR4(7852), NDUFS8(4728), CASP8(841), HADHA(3030), CASR(846), PAX8(7849), PEX19(5824), ABCD3(5825), SLC19A2(10560), PEX2(5828), PEX5(5830), SLC34A2(10568), NDUFAF2(91942), SOX9(6662), NPC2(10577), ENG(2022), NSDHL(50814), PLEKHG5(57449), LAMB1(3912), CD8A(925), ELN(2006), NDUFAF3(25915), CD247(919), D2HGDH(728294), SRD5A2(6716), LAMA3(3909), INVS(27130), LBR(3930), SPINK1(6690), DNAI1(27019), KRT17(3872), EGFR(1956), EGR2(1959), FBLN5(10516), FREM2(341640), NPHP3(27031), KRT6B(3854), ADAMTSL2(9719), STAT3(6774), KRAS(3845), RFXANK(8625), NODAL(4838), AICDA(57379), PNP(4860)]
RESPIRATORY ACIDOSIS(HP:0005972)	[DECR1(1666)]
RESPIRATORY ALKALOSIS(HP:0001950)	[CPS1(1373), ASS1(445), ASL(435), OTC(5009)]
RESPIRATORY ARREST(HP:0005943)	[SLC25A20(788), MECP2(4204), CPT2(1376), BCHE(590), MCCC1(56922)]
RESPIRATORY DIFFICULTIES(HP:0002880)	[SERPINA1(5265), EDA(1896), SCO2(9997), PRKCSH(5589), PDHA1(5160), COX6B1(1340), FASTKD2(22868), SEC63(11231), CYB5R3(1727), DCTN1(1639)]
RESPIRATORY DISTRESS(HP:0002098)	[CHAT(1103), DMPK(1760), MMAB(326625), MMAA(166785), NKX2-1(7080), NAGS(162417), FGFR1(2260), ALDH7A1(501), FGFR2(2263), ETFDH(2110), DPM1(8813), ETFB(2109), ETFA(2108), RUNX2(860), SOX9(6662), GBA(2629), SBDS(51119), COL2A1(1280), CPT2(1376)]
RESPIRATORY FAILURE DUE TO INTERCOSTAL MUSCLE AND DIAPHRAGM INVOLVEMENT(HP:0004878)	[TRPV4(59341)]
RESPIRATORY FAILURE DUE TO MUSCLE WEAKNESS MAY OCCUR IN LATE STAGES(HP:0004888)	[COL6A1(1291), COL6A2(1292), COL6A3(1293)]
RESPIRATORY FAILURE IN INFANCY(HP:0004877)	[ERBB3(2065)]
RESPIRATORY FAILURE REQUIRING ASSISTED VENTILATION(HP:0004887)	[IGHMBP2(3508), RAPSN(5913), MTM1(4534)]
RESPIRATORY FUNCTION LOSS(HP:0005937)	[RAG2(5897), RAG1(5896)]
RESPIRATORY INSUFFICIENCY(HP:0002093)	[ERBB3(2065), PLOD1(5351), SFTPB(6439), STRA6(64220), FLNC(2318), DCTN1(1639), NDUFAF2(91942), MCCC1(56922), FLNA(2316), MTM1(4534), SLC7A7(9056), NPC2(10577), COX15(1355), COLQ(8292), TK2(7084), CHRNA1(1134), SEPN1(57190), SLC25A20(788), NDUFAF3(25915), CRTAP(10491), PEX7(5191), PTEN(5728), DLD(1738), SURF1(6834), INVS(27130), CTSD(1509), ASAH1(427), MPZ(4359), C20orf7(79133), CHRNE(1145), CHRND(1144), COL1A1(1277), CHRNB1(1140), DMD(1756), CPT2(1376), NDUFS7(374291), RYR1(6261), RAPSN(5913), FGFR3(2261), SDHA(6389), BCS1L(617), MECP2(4204), POLG(5428), MUSK(4593), TSFM(10102), PSAP(5660), SLC26A2(1836), CRYAB(1410), COL6A1(1291), EGR2(1959), CYP27A1(1593), NDUFA1(4694), COL6A2(1292), RAG2(5897), NDUFA2(4695), COL6A3(1293), RAG1(5896), NEB(4703), C8orf38(137682), ACVR1(90), SMN1(6606), UBA1(7317), COX6B1(1340), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), BCHE(590), LIFR(3977), NDUFS3(4722), TRPV4(59341), NDUFV1(4723), NDUFS2(4720), HADHB(3032), IGHMBP2(3508), NDUFS6(4726), FASTKD2(22868), NDUFS4(4724), GAA(2548), VRK1(7443), NDUFS8(4728), TPM3(7170), HADHA(3030)]
RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747)	[COLQ(8292), TK2(7084), CHRNA1(1134), PLEKHG5(57449), CHAT(1103), COX6B1(1340), RAPSN(5913), POLG(5428), MUSK(4593), CRYAB(1410), COL6A1(1291), FASTKD2(22868), CHRNE(1145), COL6A2(1292), COL6A3(1293), CHRND(1144), ACTA1(58), CHRNB1(1140), NEB(4703)]
RESPIRATORY INSUFFICIENCY/FAILURE(HP:0006542)	[FGFR3(2261)]
RESPIRATORY PARALYSIS(HP:0002203)	[CPOX(1371), HMBS(3145), ALAD(210)]
RESTING TREMOR(HP:0002322)	[PINK1(65018), LRRK2(120892), PARK7(11315), POLG(5428)]
RESTLESSNESS(HP:0000711)	[PRNP(5621), AMT(275), CHMP2B(25978), TSEN54(283989), GCSH(2653), GRN(2896), CACNA1A(773), KDM5C(8242), GLDC(2731), CLN8(2055), SUOX(6821), PAK3(5063), HSD17B10(3028)]
RESTRICTED NECK MOVEMENT DUE TO CONTRACTURES(HP:0005997)	[LMNA(4000)]
RESTRICTIVE CARDIOMYOPATHY(HP:0001723)	[ABCC6(368), TNNI3(7137), PDGFRA(5156)]
RESTRICTIVE EXTERNAL OPHTHALMOPLEGIA(HP:0007936)	[KIF21A(55605)]
RESTRICTIVE EXTERNAL OPTHALMOPLEGIA, BILATERAL(HP:0008025)	[KIF21A(55605)]
RESTRICTIVE HEART FAILURE(HP:0005130)	[DES(1674)]
RESTRICTIVE LUNG DISEASE(HP:0002091)	[FKRP(79147), SEPN1(57190), HPS3(84343), DKC1(1736), GALNS(2588), HPS5(11234), HPS1(3257), SLC34A2(10568), SGCG(6445), DDR2(4921), FLNB(2317), BLOC1S3(388552), HPS4(89781), SLC12A6(9990), COL2A1(1280), HPS6(79803), DTNBP1(84062), GLB1(2720)]
RESTRICTIVE OPHTHALMOPLEGIA(HP:0007846)	[PHOX2A(401)]
RESTRICTIVE RESPIRATORY INSUFFICIENCY(HP:0002111)	[FKRP(79147), SEPN1(57190), SLC12A6(9990), SLC34A2(10568)]
RETARDED PSYCHOMOTOR DEVELOPMENT(HP:0001292)	[SLC2A2(6514)]
RETICULAR HYPERPIGMENTATION(HP:0007588)	[KRT5(3852), TINF2(26277), TERC(7012), TERT(7015), KRT14(3861)]
RETICULAR RETINAL DYSTROPHY(HP:0007913)	[PRPH2(5961)]
RETICULATED SKIN PIGMENTATION(HP:0007427)	[DKC1(1736)]
RETICULOCYTOPENIA(HP:0001896)	[TCN2(6948), FANCD2(2177), FANCA(2175), FANCC(2176), RPS19(6223), FANCE(2178)]
RETICULOCYTOSIS(HP:0001923)	[PGK1(5230), PFKM(5213), ADAMTS13(11093), PKLR(5313), GATA1(2623), CFH(3075), SLC4A1(6521), ANK1(286)]
RETINAL 'BONE CORPUSCLE' PIGMENTATION(HP:0007644)	[IMPDH1(3614), RP1(6101), RP9(6100)]
RETINAL ARTERIOLAR NARROWING AND OCCLUSION(HP:0007985)	[BEST1(7439)]
RETINAL ARTERIOLAR TORTUOSITY(HP:0001136)	[COL4A1(1282)]
RETINAL ATROPHY(HP:0001105)	[CTSD(1509), RS1(6247)]
RETINAL CALCIFICATION(HP:0007862)	[RB1(5925)]
RETINAL COLOBOMA(HP:0000480)	[SALL4(57167), CEP290(80184), B3GALTL(145173), SEMA3E(9723), TFAP2A(7020), CHD7(55636), PAX2(5076)]
RETINAL DEGENERATION(HP:0000546)	[ZFYVE26(23503), FKRP(79147), MKKS(8195), CLDN19(149461), EFEMP1(2202), CYP4V2(285440), CLN6(54982), CEP290(80184), COL11A1(1301), COL18A1(80781), RS1(6247), PPT1(5538), CP(1356), NPHP1(4867), WRN(7486), COL2A1(1280), POMGNT1(55624), PRPF8(10594), VCAN(1462), TNFRSF11B(4982), MCOLN1(57192), NR2E3(10002), ACOX1(51), CLN5(1203), TPP1(1200), PANK2(80025), MAN2B1(4125), CRB1(23418), HSD17B10(3028)]
RETINAL DEGENERATION, PROGRESSIVE(HP:0007790)	[MAN2B1(4125)]
RETINAL DEPIGMENTATION(HP:0001111)	[SLC25A15(10166), EDNRB(1910), FLNB(2317)]
RETINAL DYSGENESIS(HP:0008022)	[NDP(4693)]
RETINAL DYSPLASIA(HP:0007973)	[FKRP(79147), FKTN(2218), NDP(4693), LARGE(9215), INPP5E(56623), POMT1(10585), POMT2(29954)]
RETINAL DYSTROPHY(HP:0000556)	[MKKS(8195), PGK1(5230), PEX2(5828), BBS5(129880), TRIM32(22954), ARL6(84100), INPP5E(56623), CEP290(80184), BBS12(166379), PRPH2(5961), GUCY2D(3000), AHI1(54806), RLBP1(6017), RDH5(5959), BBS9(27241), PEX26(55670), TTC8(123016), CRX(1406), TMEM216(51259), BBS1(582), BBS2(583), LRP2(4036), PEX1(5189), BBS4(585), MKS1(54903), BBS10(79738), BBS7(55212), ALMS1(7840), CNNM4(26504)]
RETINAL DYSTROPHY, CONGENITAL, NONPROGRESSIVE(HP:0007910)	[INPP5E(56623)]
RETINAL EXUDATES(HP:0001147)	[TINF2(26277), NDP(4693), TREX1(11277), FZD4(8322), LRP5(4041)]
RETINAL HAMARTOMA(HP:0009594)	[NF2(4771)]
RETINAL HEMANGIOBLASTOMA(HP:0009711)	[CCND1(595), VHL(7428)]
RETINAL HEMORRHAGE(HP:0000573)	[IKBKG(8517), PTGS1(5742), ABCC6(368), TREX1(11277)]
RETINAL HYPOPLASIA(HP:0007770)	[FKRP(79147), POMGNT1(55624)]
RETINAL MALFORMATION(HP:0007901)	[FKRP(79147), FKTN(2218), LARGE(9215), POMT1(10585), POMT2(29954)]
RETINAL PIGMENT CLUMPING(HP:0007821)	[JAG1(182)]
RETINAL PIGMENT EPITHELIAL ATROPHY(HP:0007698)	[PRPH2(5961)]
RETINAL PIGMENTARY DYSTROPHY(HP:0008036)	[PRPH2(5961), RLBP1(6017), RDH5(5959)]
RETINAL STRIATION(HP:0007654)	[SACS(26278)]
RETINAL VASCULAR MALFORMATIONS(HP:0007797)	[KRIT1(889)]
RETINAL VASCULAR PROLIFERATION(HP:0007850)	[IKBKG(8517), FZD4(8322)]
RETINITIS PIGMENTOSA(HP:0000510)	[MERTK(10461), PEX2(5828), RPGR(6103), BBS5(129880), RP2(6102), TRIM32(22954), RP1(6101), RP9(6100), ARL6(84100), TULP1(7287), USH2A(7399), PRPH2(5961), USH1G(124590), COQ2(27235), CDH23(64072), UQCRQ(27089), ABCA4(24), PMM2(5373), SPATA7(55812), BBS9(27241), ATXN2(6311), CLRN1(7401), UQCRB(7381), MYO7A(4647), RHO(6010), CRX(1406), PRPF31(26121), PRPF8(10594), PEX1(5189), PEX7(5191), IQCB1(9657), CNGB1(1258), CTSD(1509), MKS1(54903), NPHP4(261734), MKKS(8195), APOB(338), CNGB3(54714), BCS1L(617), CEP290(80184), BBS12(166379), CA4(762), PDSS2(57107), PDSS1(23590), USH1C(10083), GPR98(84059), PEX26(55670), TTC8(123016), PCDH15(65217), COQ9(57017), IMPDH1(3614), BBS1(582), BBS2(583), BBS4(585), BBS10(79738), PHYH(5264), PANK2(80025), CLN3(1201), BBS7(55212), APTX(54840), CRB1(23418), CABC1(56997)]
RETINITIS PIGMENTOSA INVERSA(HP:0008035)	[MKKS(8195)]
RETINITIS PIGMENTOSA TYPE I(HP:0007645)	[PRPF8(10594)]
RETINOPATHY(HP:0000488)	[MFSD8(256471), C1QTNF5(114902), MTTP(4547), CTNS(1497)]
RETROCEREBELLAR CYST(HP:0006951)	[OPHN1(4983)]
RETROCOLLIS(HP:0002544)	[MAPT(4137)]
RETROGNATHIA(HP:0000278)	[FBN1(2200), BMP4(652), EP300(2033), PCNT(5116), TBX1(6899), CCBE1(147372), TGFBR1(7046), NSD1(64324), HSD17B4(3295), GLI3(2737), OFD1(8481), GBA(2629), IGBP1(3476), MOGS(7841), CREBBP(1387)]
RHABDOMYOLYSIS(HP:0003201)	[CTDP1(9150), UQCRB(7381), PGK1(5230), ACADVL(37), BCS1L(617), POLG(5428), PYGM(5837), TSFM(10102), HADHB(3032), UQCRQ(27089), HADHA(3030), CPT2(1376), LPIN1(23175)]
RHABDOMYOLYSIS WITH EXERCISE(HP:0009045)	[ACADVL(37)]
RHABDOMYOLYSIS, ACUTE(HP:0008942)	[CTDP1(9150)]
RHABDOMYOMA(HP:0009730)	[PTCH1(5727), TSC1(7248), TSC2(7249)]
RHABDOMYOSARCOMA(HP:0002859)	[PAX7(5081), BUB1B(701), SLC22A18(5002), HRAS(3265), FOXO1(2308), NF1(4763), NBN(4683), PAX3(5077)]
RHEUMATOID ARTHRITIS(HP:0001370)	[C1R(715)]
RHEUMATOID FACTOR POSITIVE(HP:0002923)	[FAS(355), CASP10(843)]
RHIZOMELIC DWARFISM(HP:0003520)	[IDS(3423), FGFR1(2260)]
RHIZOMELIC SHORTENING(HP:0002968)	[TBX15(6913), CRTAP(10491), AGPS(8540), FGFR3(2261), PEX7(5191), B3GALTL(145173), MMP13(4322), COL11A2(1302), FLNB(2317), DHCR24(1718), RMRP(6023), GNPAT(8443), DYM(54808), GPC6(10082), CHST3(9469)]
RHYTHM DISTURBANCES ASSOCIATED WITH PHEOCHROMOCYTOMA(HP:0001675)	[SDHD(6392), SDHC(6391)]
RIB EXOSTOSES(HP:0000896)	[EXT2(2132), EXT1(2131)]
RIB FUSION(HP:0000902)	[DLL3(10683), WHCR(7467), SOX2(6657), WHSC1(7468), CHRNG(1146), RECQL4(9401), ROR2(4920), GDF6(392255), GLI3(2737)]
RICKETS(HP:0002748)	[FAH(2184), CLCN5(1184), PHEX(5251), CYP27B1(1594), ALPL(249), SLC34A3(142680), VDR(7421), FGF23(8074), CYP2R1(120227), CTNS(1497)]
RIEGER ANOMALY(HP:0000558)	[WHCR(7467), WHSC1(7468), COL4A1(1282), PITX2(5308)]
RIGHT AORTIC ARCH(HP:0002627)	[DGCR(1714), CRELD1(78987), TBX1(6899), STRA6(64220)]
RIGHT VENTRICULAR ABNORMALITY(HP:0001707)	[CFTR(1080), ROR2(4920), SGCG(6445), SMAD9(4093), FLNA(2316), BMPR2(659)]
RIGHT VENTRICULAR DILATATION(HP:0005133)	[SGCG(6445)]
RIGHT VENTRICULAR FAILURE(HP:0001708)	[SMAD9(4093), BMPR2(659)]
RIGHT VENTRICULAR HYPERTROPHY(HP:0001667)	[SGCG(6445), SMAD9(4093), BMPR2(659)]
RIGHT VENTRICULAR OUTLET OBSTRUCTION(HP:0001705)	[ROR2(4920)]
RIGHT-TO-LEFT SHUNT(HP:0001694)	[ENG(2022), FOXF1(2294), ACVRL1(94)]
RIGIDITY(HP:0002063)	[PRNP(5621), TH(7054), UCHL1(7345), FBXO7(25793), ABCA12(26154), RAPSN(5913), MAPT(4137), POLG(5428), DCTN1(1639), SCN2A(6326), FLNB(2317), HTT(3064), PINK1(65018), CP(1356), LRRK2(120892), ATXN3(4287), PARK2(5071), ATXN2(6311), FTL(2512), ITM2B(9445), CHMP2B(25978), TBP(6908), PARK7(11315), ATP13A2(23400), CTSD(1509), PANK2(80025), PDE8B(8622), DOK7(285489), GBA(2629), JPH3(57338), DBH(1621), SMPD1(6609)]
RIMMED VACUOLES(HP:0003805)	[VCP(7415), MYOT(9499), TTN(7273), GNE(10020), MATR3(9782), TCAP(8557)]
ROTARY NYSTAGMUS(HP:0001583)	[NPHP4(261734), GJC2(57165), PLP1(5354)]
ROUND FACE(HP:0000311)	[PEX19(5824), ABCD3(5825), PEX2(5828), LMNA(4000), PEX5(5830), NSD1(64324), COL6A1(1291), PDE11A(50940), SH3BP2(6452), COL6A2(1292), COL6A3(1293), FGD1(2245), COL2A1(1280), PEX26(55670), CANT1(124583), ADAMTSL2(9719), GNAS(2778), PEX10(5192), PEX14(5195), CRTAP(10491), PEX13(5194), TP63(8626), PEX1(5189), B3GALTL(145173), PEX3(8504), PRKAR1A(5573), HOXD13(3239), LEPRE1(64175)]
ROUND, FULL FACE(HP:0000304)	[ADAMTSL2(9719), LMNA(4000)]
RUDDY FACE AND NECK(HP:0001068)	[AIP(9049)]
RUDIMENTARY FALLOPIAN TUBES(HP:0008697)	[DHH(50846), WNT4(54361), DCAF17(80067)]
RUDIMENTARY FIBULA(HP:0006381)	[SHOX(6473)]
RUDIMENTARY TO ABSENT FIBULAE(HP:0004986)	[SHOX(6473), FLNA(2316)]
RUDIMENTARY UTERUS AND VAGINA(HP:0008637)	[CYP11B1(1584)]
SACCADIC SMOOTH PURSUIT(HP:0001152)	[CACNA1A(773), ALS2(57679), SETX(23064)]
SACRAL DIMPLE(HP:0000960)	[MED12(9968), WHCR(7467), CD96(10225), WHSC1(7468)]
SACRAL MENINGOCELE(HP:0005765)	[VANGL1(81839), MNX1(3110)]
SACROCOCCYGEAL PILONIDAL ABNORMALITY(HP:0010767)	[MED12(9968), WHCR(7467), CD96(10225), WHSC1(7468)]
SAGITTAL CRANIOSYNOSTOSIS(HP:0004442)	[RECQL4(9401), FGFR2(2263), RAB23(51715)]
SALMONELLA OSTEOMYELITIS(HP:0005661)	[IFNGR1(3459), IL12B(3593), STAT1(6772)]
SALT AND PEPPER RETINAL PIGMENTATION(HP:0001124)	[ERCC8(1161)]
SANDWICH APPEARANCE OF VERTEBRAL BODIES(HP:0004618)	[TCIRG1(10312)]
SCANNING SPEECH(HP:0002168)	[PDSS2(57107), CP(1356), COQ9(57017), ATXN10(25814), SACS(26278), COQ2(27235), PDSS1(23590), APTX(54840), ATXN1(6310), PLP1(5354), CABC1(56997)]
SCANT EYELASHES(HP:0007853)	[GJB2(2706)]
SCAPHOCEPHALY(HP:0000258)	[IDS(3423), FBN2(2201), OFD1(8481), GJA1(2697), TWIST1(7291), HSD17B4(3295)]
SCAPULAR EXOSTOSES(HP:0000918)	[EXT2(2132), EXT1(2131)]
SCAPULAR WINGING(HP:0003691)	[PTPN11(5781), VCP(7415), TRPS1(7227), ATP6V0A2(23545), MYH7(4625), KCNJ2(3759), SGCB(6443), CAPN3(825), FLNA(2316), PAX3(5077), EYA1(2138)]
SCAPULOPERONEAL ATROPHY(HP:0003697)	[TRPV4(59341), PLEKHG5(57449), SLC19A2(10560), MYH7(4625)]
SCAPULOPERONEAL MYOPATHY(HP:0009054)	[MYH7(4625)]
SCAPULOPERONEAL WEAKNESS(HP:0003704)	[MYH7(4625), DES(1674)]
SCARRING ALOPECIA OF SCALP(HP:0004552)	[PLEC(5339)]
SCHEUERMANN-LIKE VERTEBRAL CHANGES(HP:0008478)	[PHF6(84295)]
SCHISTOCYTES(HP:0001981)	[ADAMTS13(11093), CFH(3075), SC5DL(6309)]
SCLEROCORNEA(HP:0000647)	[GJA8(2703), FOXE3(2301), DGCR(1714), HCCS(3052), RAX(30062), TBX1(6899)]
SCLEROCYSTIC OVARIES(HP:0008657)	[HNF1A(6927)]
SCLEROTIC CRANIAL SUTURES(HP:0005441)	[MMP2(4313)]
SCLEROTIC SCAPULAE(HP:0001474)	[SOST(50964)]
SCLEROTIC SKULL BASE(HP:0002694)	[ANKH(56172), LBR(3930), TGFB1(7040), FLNA(2316)]
SCLEROTIC VERTEBRAL ENDPLATES(HP:0004576)	[SOST(50964), WISP3(8838)]
SCLEROTIC, IRREGULAR METAPHYSES(HP:0005062)	[COL2A1(1280)]
SCOLIOSIS(HP:0002650)	[SH3TC2(79628), FBN1(2200), BIN1(274), RET(5979), FBN2(2201), FKRP(79147), ATRX(546), ATR(545), SETX(23064), SALL4(57167), CCBE1(147372), TGFBR1(7046), MYH3(4621), NSD1(64324), ANCR(282), MAPT(4137), TGFB1(7040), SLC16A2(6567), IKBKG(8517), IKBKAP(8518), CDKL5(6792), PAPSS2(9060), ADAMTS10(81794), PTCH1(5727), CRLF1(9244), GNE(10020), PPIB(5479), IHH(3549), GNPTAB(79158), GLB1(2720), CANT1(124583), SBF2(81846), COLQ(8292), CHRNA1(1134), ACADS(35), SEPN1(57190), GPC3(2719), KIF5A(3798), CRTAP(10491), SEC23A(10484), PEX7(5191), LRP5(4041), B3GALTL(145173), PTEN(5728), ROR2(4920), UPB1(51733), DDR2(4921), MPZ(4359), GJA1(2697), CHRNG(1146), CHRNE(1145), CREBBP(1387), CHRND(1144), SIL1(64374), POR(5447), ACTA1(58), RAI1(10743), SLC12A6(9990), RAB23(51715), ACTB(60), TOR1A(1861), TRAPPC2(6399), SNRPN(6638), UPF3B(65109), COMP(1311), LMNA(4000), FGFR3(2261), OCRL(4952), MECP2(4204), LMX1B(4010), SLC26A2(1836), COL6A1(1291), SOS1(6654), NDN(4692), PHF6(84295), HSPB8(26353), COL6A2(1292), IGBP1(3476), COL6A3(1293), KCNJ2(3759), FGD1(2245), COL2A1(1280), FUCA1(2517), CBS(875), UBE3A(7337), PQBP1(10084), GDF6(392255), NEB(4703), ACVR1(90), FOXC2(2303), UBA1(7317), ABCC6(368), SMCR(6600), TBX1(6899), TNNI2(7136), PORCN(64840), TNNT3(7140), LIFR(3977), RUNX2(860), EBP(10682), TRPV4(59341), HOXD13(3239), ALMS1(7840), GNPTG(84572), PMP22(5376), SMS(6611), CHD7(55636), PLOD1(5351), EP300(2033), ATL1(51062), ROBO3(64221), ERCC6(2074), SGCA(6442), SPG7(6687), SGCG(6445), FLNA(2316), GARS(2617), FLNB(2317), SOX9(6662), NF1(4763), FAM126A(84668), ALS2(57679), NSDHL(50814), FMR1(2332), PLEKHG5(57449), AGA(175), GALNS(2588), MTMR2(8898), FGD4(121512), LAMA2(3908), PRX(57716), ARX(170302), GNPAT(8443), COL1A2(1278), RECQL4(9401), ZNF469(84627), COL1A1(1277), DMD(1756), CTSK(1513), RAB3GAP1(22930), MGAT2(4247), GAD1(2571), CTDP1(9150), HSPG2(3339), TRPS1(7227), WHCR(7467), RYR1(6261), CD96(10225), WHSC1(7468), SIX3(6496), ZMPSTE24(10269), PTPN11(5781), RMRP(6023), EGR2(1959), DGCR(1714), DYM(54808), GDAP1(54332), FXN(2395), STAT3(6774), MFN2(9927), CLCF1(23529), WISP3(8838), SEMA3E(9723), SHOX(6473), ATP6V0A2(23545), MMP2(4313), TPM2(7169), CHST3(9469), APTX(54840), LEPRE1(64175)]
SCOTOMA(HP:0000575)	[PITPNM3(83394), OPA1(4976), PRPH2(5961), MFN2(9927), ABCC6(368), PROM1(8842), COL4A1(1282), ELOVL4(6785)]
SCREWDRIVER BLADE-SHAPED INCISORS(HP:0006346)	[NHS(4810)]
SCROTAL HYPOPLASIA(HP:0000046)	[SNRPN(6638), DHCR7(1717), NDN(4692), ATRX(546), OPHN1(4983), POR(5447), IRF6(3664), WNT7A(7476)]
SEBORRHEIC DERMATITIS(HP:0001051)	[BTD(686), DGCR(1714), TBX1(6899), MCCC2(64087), C5(727)]
SECOND METATARSAL POSTERIORLY PLACED(HP:0008125)	[ERCC6(2074)]
SECONDARY AMENORRHEA(HP:0000869)	[EIF2B2(8892), EIF2B5(8893), EIF2B4(8890), EIF2B3(8891), EIF2B1(1967), POLG(5428)]
SECONDARY GENERALIZED TONIC-CLONIC SEIZURES(HP:0002602)	[LGI1(9211), SCN2A(6326)]
SECONDARY GROWTH HORMONE DEFICIENCY(HP:0008240)	[CRH(1392)]
SECONDARY HYPERKALEMIC PERIODIC PARALYSIS(HP:0007215)	[WNK1(65125), WNK4(65266)]
SECONDARY HYPERPARATHYROIDISM(HP:0000867)	[CYP27B1(1594), VDR(7421)]
SECUNDUM ATRIAL SEPTAL DEFECT(HP:0001684)	[NF1(4763)]
SEGMENTAL DEMYELINATION(HP:0007107)	[SBF2(81846), SH3TC2(79628), EGR2(1959), MPZ(4359), LITAF(9516), NDRG1(10397), NEFL(4747), PMP22(5376), DNM2(1785), PRX(57716)]
SEGMENTAL DEMYELINATION/REMYELINATION(HP:0003481)	[SBF2(81846), EGR2(1959), MPZ(4359), LITAF(9516), NDRG1(10397), NEFL(4747), PMP22(5376), PRX(57716)]
SEGMENTAL DEMYELINATION/REMYELINATION ON NERVE BIOPSY(HP:0003425)	[SBF2(81846), EGR2(1959), MPZ(4359), LITAF(9516), NDRG1(10397), NEFL(4747), PMP22(5376), PRX(57716)]
SEIZURES(HP:0001250)	[FKRP(79147), SUCLG1(8802), FBP1(2203), DCX(1641), AUH(549), ATRX(546), GLUD1(2746), MMAA(166785), MMADHC(27249), ATR(545), CCBE1(147372), CLN6(54982), HSD17B4(3295), AVPR2(554), DPM1(8813), MCCC1(56922), SLC16A1(6566), GLI3(2737), TRPM6(140803), SLC35C1(55343), GLDC(2731), GCM2(9247), NPC1(4864), COQ2(27235), CRLF1(9244), DOLK(22845), CTSA(5476), GLB1(2720), ACADM(34), TK2(7084), GLA(2717), ACADS(35), LYST(1130), ACADSB(36), B3GALTL(145173), SLC6A8(6535), MCPH1(79648), ACOX1(51), FKTN(2218), SLC9A6(10479), KCNMA1(3778), C20orf7(79133), GJA1(2697), SLC12A3(6559), DBT(1629), MPV17(4358), SLC12A1(6557), KCNQ2(3785), KCNQ3(3786), CHRNA4(1137), ATP7A(538), NDUFS7(374291), KCNJ11(3767), SNRPN(6638), FH(2271), ZEB2(9839), GPR56(9289), OCRL(4952), FGFR2(2263), BCS1L(617), KCTD7(154881), POLG(5428), ATXN10(25814), GNS(2799), CYP27B1(1594), KCNJ1(3758), ACY1(95), GPR98(84059), ACVRL1(94), ASPM(259266), C8orf38(137682), GNAS(2778), CCM2(83605), OPHN1(4983), NDUFA11(126328), NDUFAF4(29078), NIPBL(25836), BCKDHA(593), GM2A(2760), KDM5C(8242), BCKDHB(594), FAM123B(139285), IVD(3712), FASTKD2(22868), HPD(3242), SMS(6611), MLYCD(23417), SDHAF1(644096), TUBB2B(347733), PLA2G6(8398), BTD(686), SLC25A22(79751), PRPS1(5631), ERCC6(2074), PRODH(5625), BRAF(673), OTC(5009), MAP2K1(5604), SGSH(6448), MAP2K2(5605), BUB1B(701), MTHFR(4524), HMBS(3145), MAPK10(5602), ADSL(158), FAM126A(84668), TREX1(11277), CLN8(2055), GAMT(2593), SLC46A1(113235), HLCS(3141), TCIRG1(10312), PAH(5053), GALC(2581), AGA(175), MFSD8(256471), DLD(1738), PSAT1(29968), MSX2(4488), GABRG2(2566), RECQL4(9401), RPIA(22934), PDHX(8050), ETHE1(23474), GAD1(2571), POMT2(29954), WHCR(7467), WFS1(7466), INSR(3643), EHMT1(79813), WHSC1(7468), ERCC8(1161), ST3GAL5(8869), PAX2(5076), INS(3630), EIF2B2(8892), MED12(9968), EIF2B5(8893), GPHN(10243), PPT1(5538), DGUOK(1716), DHCR7(1717), DGCR(1714), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), HEXA(3073), EPM2A(7957), CFH(3075), GFAP(2670), PAK3(5063), PHGDH(26227), COQ9(57017), GCH1(2643), HGSNAT(138050), ALG1(56052), GCK(2645), ALDOB(229), TSEN54(283989), GCSH(2653), TFAP2A(7020), ALDH3A2(224), PCCB(5096), CLN5(1203), TPP1(1200), CLN3(1201), GBA(2629), ALPL(249), APTX(54840), PC(5091), PCCA(5095), CABC1(56997), AMT(275), CPT1A(1374), PGK1(5230), CPS1(1373), SCN9A(6335), NAGS(162417), MYH3(4621), SCN1A(6323), NSD1(64324), ANCR(282), GJC2(57165), VDR(7421), SCN2A(6326), SLC6A19(340024), IKBKG(8517), ESCO2(157570), CDKL5(6792), COX15(1355), GNE(10020), GYS2(2998), MC2R(4158), ECM1(1893), SC5DL(6309), UQCRB(7381), NIPA1(123606), SLC25A20(788), PEX10(5192), PTH(5741), PEX14(5195), RAB39B(116442), PEX13(5194), PEX1(5189), PEX7(5191), PTEN(5728), UPB1(51733), SURF1(6834), CRH(1392), ABCC8(6833), C10orf2(56652), SLC17A5(26503), CREBBP(1387), ALDH5A1(7915), SLC12A6(9990), NAGA(4668), NAGLU(4669), SUOX(6821), CPT2(1376), MANBA(4126), PDHA1(5160), KRIT1(889), ALG6(29929), SDHA(6389), MECP2(4204), NHLRC1(378884), TSFM(10102), PDP1(54704), PSAP(5660), PDSS2(57107), CUL4B(8450), PSEN1(5663), NDN(4692), PHF6(84295), NDP(4693), NDUFA1(4694), TREM2(54209), NDUFA2(4695), NLGN4X(57502), COL4A1(1282), PDSS1(23590), FUCA1(2517), CBS(875), UBE3A(7337), SYN1(6853), PQBP1(10084), PEX26(55670), ATN1(1822), POMGNT1(55624), VPS13B(157680), COX6B1(1340), TBP(6908), TBX1(6899), ARG1(383), PEX3(8504), NDUFS1(4719), TUBA1A(7846), NDUFS3(4722), DPYS(1807), NDUFV1(4723), PCDH19(57526), NDUFS2(4720), OFD1(8481), AQP2(359), HADH(3033), CLDN16(10686), NDUFS6(4726), NDUFS4(4724), MOGS(7841), DPAGT1(1798), TYROBP(7305), NDUFS8(4728), CASR(846), HSD17B10(3028), SLC25A15(10166), PEX19(5824), ARSA(410), ABCD3(5825), LGI1(9211), EP300(2033), PEX2(5828), LARGE(9215), PEX5(5830), RPS6KA3(6197), SCARB2(950), MGP(4256), PLP1(5354), NDUFAF2(91942), FLNA(2316), IDS(3423), CSTB(1476), TTR(7276), NPC2(10577), NF1(4763), ENG(2022), ATP6AP2(10159), UQCRQ(27089), AASS(10157), PMM2(5373), NEU1(4758), POMT1(10585), ASPA(443), NDUFAF3(25915), VPS13A(23230), ASS1(445), D2HGDH(728294), ASL(435), TSC1(7248), TSC2(7249), LAMA2(3908), L2HGDH(79944), PNPO(55163), CTSD(1509), LBR(3930), RAB27A(5873), MLC1(23209), ARX(170302), MBTPS2(51360), MGAT2(4247), MBD5(55777), ATP1A2(477), CD96(10225), ATM(472), ATIC(471), HSPD1(3329), L1CAM(3897), GSS(2937), EIF2B1(1967), MOCS2(4338), MOCS1(4337), ADAMTSL2(9719), ALG3(10195), ALDH7A1(501), KRAS(3845), PTS(5805), MMACHC(25974), ATP2A2(488), FXYD2(486), NOTCH3(4854)]
SEIZURES DUE TO HYPOCALCEMIA(HP:0002199)	[CYP27B1(1594), VDR(7421)]
SEIZURES OCCUR IN ABSENCE OF INTRACRANIAL INFECTION OR DEFINED PATHOLOGIC OR TRAUMATIC CAUSE(HP:0002182)	[SCN9A(6335), SCN1A(6323), GPR98(84059)]
SEIZURES OCCUR IN CLUSTERS(HP:0002279)	[SCN2A(6326), CHRNA4(1137)]
SEIZURES OCCUR IN CLUSTERS OVER 1 OR SEVERAL DAYS(HP:0002437)	[SCN2A(6326)]
SEIZURES OFTEN BEGIN WITH HEAD AND EYE DEVIATION(HP:0002417)	[SCN2A(6326)]
SEIZURES USUALLY LAST LESS THAN 15 MINUTES(HP:0002125)	[SCN9A(6335), SCN1A(6323), GPR98(84059)]
SEIZURES, AFEBRILE(HP:0002348)	[KCNQ2(3785), KCNQ3(3786)]
SEIZURES, GENERALIZED, ASSOCIATED WITH FEVER(HP:0002175)	[SCN9A(6335), SCN1A(6323), GPR98(84059)]
SEIZURES, HYPOGLYCEMIC(HP:0002173)	[HADH(3033), GCK(2645), INSR(3643), GLUD1(2746), ABCC8(6833), SLC16A1(6566)]
SEIZURES, PARTIAL, AFEBRILE(HP:0002358)	[SCN2A(6326)]
SEIZURES, TONIC-CLONIC, PHOTOSENSITIVE(HP:0007207)	[SLC9A6(10479)]
SELECTIVE PROXIMAL TUBULAR DAMAGE(HP:0000806)	[ETFDH(2110), ETFB(2109), ETFA(2108)]
SELECTIVE TOOTH AGENESIS(HP:0001592)	[CDH3(1001), GJA1(2697), ATR(545), TP63(8626), FLNA(2316)]
SELF-MUTILATION(HP:0000742)	[DHCR7(1717), SLITRK1(114798), VPS13A(23230), INPP5E(56623)]
SELF-MUTILATION OF TONGUE AND LIPS DUE TO INVOLUNTARY MOVEMENTS(HP:0008767)	[VPS13A(23230)]
SEMILOBAR HOLOPROSENCEPHALY(HP:0002507)	[TGIF1(7050)]
SENILE MACULAR DEGENERATION(HP:0007868)	[ABCA4(24)]
SENSORIMOTOR NEUROPATHY(HP:0007141)	[GALC(2581), CLCF1(23529)]
SENSORIMOTOR POLYNEUROPATHY AFFECTING ARMS MORE THAN LEGS(HP:0006865)	[TTR(7276)]
SENSORINEURAL DEAFNESS, POSTLINGUAL, PROGRESSIVE(HP:0008596)	[TIMM8A(1678)]
SENSORINEURAL HEARING LOSS, MILD TO MODERATE(HP:0008611)	[NOG(9241)]
SENSORINEURAL HEARING LOSS, PROFOUND CONGENITAL(HP:0008520)	[USH1C(10083)]
SENSORY AND MOTOR AXONAL NEUROPATHY(HP:0007002)	[GAN(8139)]
SENSORY ATAXIC NEUROPATHY(HP:0003434)	[POLG(5428), C10orf2(56652)]
SENSORY AXONAL NEUROPATHY(HP:0003390)	[GJC2(57165), POLG(5428), FGF14(2259), C10orf2(56652)]
SENSORY AXONAL NEUROPATHY, MILD(HP:0006883)	[FGF14(2259)]
SENSORY DEFECT(HP:0001333)	[FKRP(79147), SUCLG1(8802), TINF2(26277), MMADHC(27249), SACS(26278), CCBE1(147372), DNAJC19(131118), SLC16A2(6567), CDH23(64072), COQ2(27235), ABCB7(22), UBR1(197131), BBS9(27241), TMC1(117531), LYST(1130), HSPB1(3315), POU3F4(5456), ACOX1(51), FKTN(2218), C20orf7(79133), MPZ(4359), SLC12A3(6559), SLC12A1(6557), TNFRSF11A(8792), ACTB(60), ACTG1(71), FGFR1(2260), FGFR3(2261), POLG(5428), BBS12(166379), KCTD7(154881), POLH(5429), FGF14(2259), FGF10(2255), SOS1(6654), HSPB8(26353), FGF3(2248), HOXA11(3207), ACY1(95), GDF6(392255), ACVR1(90), C8orf38(137682), FOXC2(2303), FOXI1(2299), NDUFA11(126328), TRPV4(59341), WNK1(65125), FASTKD2(22868), PMP22(5376), PRNP(5621), ERCC2(2068), TRIM32(22954), ERCC3(2071), EYA4(2070), CCT5(22948), PRPS1(5631), ERCC6(2074), KIAA0196(9897), MTHFR(4524), TMEM67(91147), HMBS(3145), ZIC1(7545), CLN8(2055), HOXA2(3199), MFSD8(256471), SPG11(80208), MTMR2(8898), CNGA3(1261), FGD4(121512), COL1A2(1278), PRKCG(5582), RPIA(22934), XPC(7508), OPA3(80207), COL1A1(1277), XPA(7507), GJB6(10804), WFS1(7466), SQSTM1(8878), ERCC8(1161), CEP290(80184), MVK(4598), EYA1(2138), MED12(9968), HGF(3082), PPT1(5538), SLC2A1(6513), BEAN(146227), GDAP1(54332), HEXB(3074), ABCD1(215), EVC(2121), ALAD(210), PCDH15(65217), SHH(6469), PPP2R2B(5521), MFN2(9927), CLCNKB(1188), ALDH3A2(224), CLN5(1203), TPP1(1200), MTTP(4547), PGK1(5230), CPS1(1373), SCN9A(6335), SCN1A(6323), ANCR(282), MAPT(4137), SLC6A19(340024), ATXN7(6314), ATXN8OS(6315), USH2A(7399), CP(1356), COX15(1355), ATXN1(6310), ATXN2(6311), CLRN1(7401), UQCRB(7381), SALL1(6299), TMEM216(51259), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), DCAF17(80067), C10orf2(56652), NR2E3(10002), SLC25A4(291), SLC17A5(26503), SIL1(64374), CNNM4(26504), SLC12A6(9990), MAN2B1(4125), UCHL1(7345), PDHA1(5160), APOB(338), CNGB3(54714), SDHA(6389), INPP5E(56623), MECP2(4204), PDP1(54704), COL11A2(1302), COL11A1(1301), COL4A6(1288), IGF1(3479), IGBP1(3476), PDSS1(23590), USH1C(10083), COL2A1(1280), UBE3A(7337), COL4A5(1287), FTL(2512), SLC26A4(5172), TTC8(123016), PEX26(55670), BSCL2(26580), CHST6(4166), COX6B1(1340), SLC39A4(55630), PANK2(80025), TYR(7299), TTBK2(146057), AR(367), CHD7(55636), ARSA(410), SLC25A15(10166), ARSE(415), LARGE(9215), RPS6KA3(6197), MGP(4256), PLP1(5354), GRHL2(79977), CTNS(1497), FLNB(2317), TTR(7276), CSTB(1476), ATXN3(4287), MITF(4286), TTPA(7274), PMM2(5373), LRPPRC(10128), ASS1(445), TRIOBP(11078), ASL(435), CTSD(1509), MBTPS2(51360), PLG(5340), CTDP1(9150), ATP1A2(477), CD96(10225), ATM(472), HSPD1(3329), KCNQ4(9132), FXN(2395), PHEX(5251), HYLS1(219844), PHYH(5264), TH(7054), SH3TC2(79628), DDB2(1643), AUH(549), DCX(1641), ATRX(546), ATXN8(724066), GAN(8139), TGFBI(7045), RDX(5962), NOG(9241), NPHP1(4867), NPC1(4864), MYO15A(51168), SBF2(81846), NKX2-1(7080), NTRK1(4914), KIF5A(3798), ATP6V1B1(525), GJB1(2705), GJB2(2706), SLC9A6(10479), GJA1(2697), DBT(1629), KCNQ1(3784), GIF(2694), PROKR2(128674), DBH(1621), NDUFS7(374291), SAR1B(51128), MKKS(8195), GPR56(9289), NDRG1(10397), BCS1L(617), MED25(81857), AAAS(8086), KCNC3(3748), ATXN10(25814), GPR143(4935), CYP27A1(1593), KCNJ1(3758), GPR98(84059), OPA1(4976), ABHD5(51099), BBS1(582), KAL1(3730), BBS2(583), OPHN1(4983), BBS4(585), NDUFAF4(29078), KCNA1(3736), NIPBL(25836), BCKDHA(593), BBS10(79738), SNAP29(9342), BCKDHB(594), SDHAF1(644096), AMN(81693), BTD(686), RPGR(6103), TMPRSS3(64699), ITPR1(3708), ZIC4(84107), ARL6(84100), GARS(2617), BUB1B(701), GAMT(2593), CUBN(8029), SLC46A1(113235), DNM2(1785), LHX3(8022), DIAPH1(1729), TCN2(6948), GALE(2582), OTOF(9381), BCOR(54880), DLAT(1737), DKC1(1736), DLD(1738), PRX(57716), MYH14(79784), MKS1(54903), GABRG2(2566), C20orf54(113278), RPE65(6121), PDHX(8050), ETHE1(23474), DMP1(1758), POMT2(29954), CYP7B1(9420), PAX3(5077), PAX2(5076), DHCR7(1717), AHI1(54806), GFAP(2670), TECTA(7007), ITM2B(9445), COQ9(57017), SOST(50964), TIMM8A(1678), TFAP2A(7020), GATA3(2625), DFNA5(1687), GBA(2629), ARHGEF6(9459), APTX(54840), CABC1(56997), PITPNM3(83394), BBS5(129880), TACSTD2(4070), SETX(23064), SALL4(57167), GJC2(57165), EDNRA(1909), EDNRB(1910), GUCA1A(2978), IKBKAP(8518), GUCY2D(3000), CDKL5(6792), USH1G(124590), RAB7A(7879), MYH9(4627), TYMP(1890), MYO7A(4647), NIPA1(123606), YARS(8565), KIF1B(23095), LRP2(4036), LRP5(4041), MCOLN1(57192), SURF1(6834), CACNA1A(773), AP3B1(8546), LITAF(9516), ALDH5A1(7915), NAGA(4668), RAB23(51715), SUOX(6821), LMNB1(4001), LMNA(4000), EVC2(132884), ALG6(29929), PRPS2(5634), LMX1B(4010), PSAP(5660), PDSS2(57107), CUL4B(8450), PSEN1(5663), NDP(4693), BSND(7809), NDUFA1(4694), DSPP(1834), NDUFA2(4695), ATN1(1822), ANKH(56172), TBP(6908), ATCAY(85300), PORCN(64840), PEX3(8504), NDUFS1(4719), EBP(10682), NDUFS3(4722), NDUFV1(4723), NDUFS2(4720), BBS7(55212), NDUFS6(4726), ALMS1(7840), NDUFS4(4724), NDUFS8(4728), HSD17B10(3028), PEX19(5824), SLC19A2(10560), PEX2(5828), PEX5(5830), NEFL(4747), SCARB2(950), SPG7(6687), NDUFAF2(91942), SPAST(6683), SOX10(6663), NPC2(10577), SOX2(6657), UQCRQ(27089), NEU1(4758), POMT1(10585), NDUFAF3(25915), VPS13A(23230), NF2(4771), SPTBN2(6712), MLC1(23209), DNAI1(27019), NGF(4803), PTPN11(5781), EGR2(1959), NME1(4830), GSS(2937), NPHP3(27031), ST14(6768), NLRP3(114548), TP63(8626), SEMA3E(9723), PDE8B(8622), PNP(4860), SPTLC1(10558)]
SENSORY IMPAIRMENT(HP:0003474)	[AMN(81693), CUBN(8029), GIF(2694)]
SENSORY NEUROPATHY(HP:0000763)	[SLC25A15(10166), AMN(81693), SH3TC2(79628), SCN9A(6335), ATXN8(724066), SACS(26278), NEFL(4747), SETX(23064), CCT5(22948), GAN(8139), PRPS1(5631), GJC2(57165), SPG7(6687), KIAA0196(9897), GARS(2617), SPAST(6683), ATXN8OS(6315), SOX10(6663), ATXN3(4287), MTHFR(4524), HMBS(3145), CUBN(8029), RAB7A(7879), TYMP(1890), DNM2(1785), ATXN2(6311), SBF2(81846), NIPA1(123606), YARS(8565), VPS13A(23230), SPG11(80208), HSPB1(3315), KIF1B(23095), KIF5A(3798), MTMR2(8898), FGD4(121512), GJB1(2705), SPTBN2(6712), PRX(57716), C10orf2(56652), CACNA1A(773), MPZ(4359), SLC12A3(6559), LITAF(9516), SLC12A1(6557), PRKCG(5582), SLC12A6(9990), NAGA(4668), GIF(2694), SAR1B(51128), LMNA(4000), NDRG1(10397), HSPD1(3329), CYP7B1(9420), POLG(5428), FGF14(2259), MED25(81857), EGR2(1959), HSPB8(26353), KCNJ1(3758), GDAP1(54332), FXN(2395), ALAD(210), BSCL2(26580), MFN2(9927), TRPV4(59341), APTX(54840), AR(367), PMP22(5376), SPTLC1(10558)]
SEPARATE TRIPHALANGEAL THUMB(HP:0006194)	[LMBR1(64327)]
SEPTATE VAGINA(HP:0001153)	[MKKS(8195), DHCR7(1717), BCOR(54880), TP63(8626), HOXA13(3209), MNX1(3110), UBR1(197131)]
SEPTIC ARTHRITIS(HP:0003095)	[BTK(695), PSTPIP1(9051)]
SERRATIA MARCESCENS INFECTIONS(HP:0002741)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
SERUM CREATINE KINASE 20-70 TIMES NORMAL(HP:0008164)	[DYSF(8291)]
SERUM ELECTROLYTE ABNORMALITY(HP:0003111)	[RET(5979), CLDN19(149461), SUCLG1(8802), STOM(2040), VDR(7421), AVPR2(554), CTNS(1497), HSD11B2(3291), TRPM6(140803), FAH(2184), GCM2(9247), KL(9365), SMAD4(4089), UBR1(197131), LPIN1(23175), KIF1B(23095), PTH(5741), AIP(9049), GALNT3(2591), GNASAS(149775), INVS(27130), NR0B1(190), SLC12A3(6559), SLC12A1(6557), PTH1R(5745), STX16(8675), CACNA1S(779), BMPR1A(657), DMP1(1758), SDHD(6392), SDHB(6390), CDC73(79577), FGF23(8074), CYP2R1(120227), CA2(760), DGCR(1714), CYP27B1(1594), BSND(7809), SLC2A2(6514), KCNJ2(3759), KCNJ1(3758), MEN1(4221), SLC4A1(6521), CYP11B2(1585), CYP11B1(1584), TBCE(6905), GNAS(2778), PHEX(5251), CLCN5(1184), TNFRSF11B(4982), CLCNKB(1188), TBX1(6899), ALDOB(229), SLC26A3(1811), WNK4(65266), VHL(7428), WNK1(65125), AQP2(359), CLDN16(10686), ALPL(249), SLC34A3(142680), SCNN1G(6340), FXYD2(486), CASR(846), SCNN1A(6337), SCNN1B(6338)]
SERUM IGA, IGG, AND IGE SEVERELY DEFICIENT(HP:0002854)	[CD40(958), CD40LG(959)]
SEVERE ARTHROGRYPOSIS(HP:0001389)	[NEB(4703)]
SEVERE ATOPIC DERMATITIS(HP:0007533)	[MAP2K1(5604), MAP2K2(5605), KRAS(3845), BRAF(673)]
SEVERE BEHAVIORAL PROBLEMS AT AGE 3-4(HP:0002456)	[SGSH(6448), HGSNAT(138050), GNS(2799), NAGLU(4669)]
SEVERE BRACHYDACTYLY(HP:0001201)	[CHRNA1(1134), TRPS1(7227), CHRNG(1146), CHRND(1144), BMPR1B(658)]
SEVERE CAMPTODACTYLY(HP:0006195)	[TNNI2(7136), MYH3(4621), TPM2(7169), TNNT3(7140)]
SEVERE CARPAL OSSIFICATION DELAY(HP:0006069)	[TRPV4(59341)]
SEVERE COLITIS(HP:0002583)	[RFX5(5993), RFXAP(5994), RFXANK(8625), CIITA(4261)]
SEVERE COMBINED IMMUNODEFICIENCY(HP:0004430)	[ZAP70(7535), ADA(100), RAG2(5897), DCLRE1C(64421), RAG1(5896), IL2RG(3561)]
SEVERE CONGENITAL NEUTROPENIA(HP:0005549)	[WAS(7454)]
SEVERE CONSTIPATION(HP:0003786)	[CPOX(1371)]
SEVERE DELAY IN MYELINATION(HP:0007300)	[PEX7(5191)]
SEVERE DEMYELINATION OF THE WHITE MATTER(HP:0007258)	[L2HGDH(79944)]
SEVERE DENTAL CARIES(HP:0006295)	[ALPL(249)]
SEVERE DISTAL SENSORY IMPAIRMENT(HP:0006922)	[SBF2(81846)]
SEVERE DISTAL SENSORY LOSS(HP:0007292)	[GDAP1(54332)]
SEVERE ENTEROVIRAL INFECTIONS(HP:0002743)	[BTK(695)]
SEVERE FAILURE TO THRIVE(HP:0001525)	[INSR(3643), ZFP57(346171), PEX7(5191), ERCC6(2074), TNDM(7952)]
SEVERE GROWTH RETARDATION(HP:0001521)	[WHCR(7467), WHSC1(7468), LHX4(89884), TSHB(7252), MAN2B1(4125), GNPTAB(79158)]
SEVERE GROWTH RETARDATION FROM INFANCY(HP:0008911)	[LHX4(89884)]
SEVERE HEMOLYTIC ANEMIA(HP:0004868)	[SPTA1(6708)]
SEVERE HYDROCEPHALUS(HP:0006882)	[HYLS1(219844)]
SEVERE HYPOMYELINATION ON NERVE BIOPSY(HP:0007012)	[EGR2(1959), MPZ(4359)]
SEVERE INTERMITTENT KETOACIDOSIS(HP:0005981)	[OXCT1(5019)]
SEVERE INTRAUTERINE GROWTH RETARDATION(HP:0008846)	[TBCE(6905)]
SEVERE INVOLVEMENT OF GLOBUS PALLIDUS(HP:0007040)	[MUT(4594)]
SEVERE LIMITATIONS OF EYE MOVEMENTS(HP:0007959)	[PHOX2A(401)]
SEVERE MICROGNATHIA(HP:0000345)	[FLNA(2316)]
SEVERE MUSCULAR HYPOTONIA(HP:0006829)	[BMP4(652), GCH1(2643), MTM1(4534)]
SEVERE MYOPIA (> -6.00 DIOPTERS)(HP:0000569)	[COL18A1(80781), FBN1(2200), ERBB3(2065), ADAMTS10(81794), LRP2(4036), CNGB3(54714), COL11A1(1301)]
SEVERE OSTEOPOROSIS(HP:0005897)	[COL1A1(1277)]
SEVERE PERIODONTITIS(HP:0000166)	[CTSC(1075)]
SEVERE PHOTOSENSITIVITY(HP:0007537)	[DHCR7(1717)]
SEVERE PLATYSPONDYLY(HP:0004565)	[FGFR3(2261)]
SEVERE POSTNATAL GROWTH DEFICIENCY(HP:0008932)	[ERCC8(1161)]
SEVERE PRENATAL GROWTH DEFICIENCY(HP:0008899)	[ESCO2(157570)]
SEVERE PROTRACTED BLEEDING AFTER SURGERY(HP:0004846)	[PTGS1(5742), F11(2160)]
SEVERE SHORT-LIMB DWARFISM(HP:0008890)	[GDF5(8200)]
SEVERE T-CELL IMMUNODEFICIENCY(HP:0005352)	[FRAS1(80144), FOXN1(8456), FREM2(341640)]
SEVERE THROMBOCYTOPENIA(HP:0004838)	[MPL(4352), MYH9(4627)]
SEVERE VISUAL IMPAIRMENT(HP:0001141)	[NPHP4(261734), ALG3(10195), CACNA1F(778)]
SEVERELY ADDUCTED THUMBS(HP:0005646)	[CHST14(113189)]
SEVERELY DECREASED MOTOR NERVE CONDUCTION VELOCITY(HP:0006907)	[EGR2(1959), MPZ(4359), MTMR2(8898), PMP22(5376), PRX(57716)]
SEVERELY DECREASED TO EXTINGUISHED EOG(HP:0008179)	[RBP4(5950)]
SEVERELY DISPROPORTIONATE SHORT STATURE(HP:0008900)	[RMRP(6023)]
SEVERELY REDUCED NERVE CONDUCTION VELOCITIES(HP:0007231)	[NDRG1(10397)]
SEX-LIMITED AUTOSOMAL DOMINANT(HP:0001470)	[LHCGR(3973)]
SHAGREEN PATCH(HP:0009721)	[TSC1(7248), TSC2(7249)]
SHALLOW ACETABULAR FOSSAE(HP:0003182)	[SMARCAL1(50485), HOXA11(3207), GATA1(2623), GNPTAB(79158), DCR(1637)]
SHALLOW ANTERIOR CHAMBER(HP:0000594)	[FBN1(2200), NDP(4693), ADAMTS10(81794)]
SHALLOW ORBITAL RIDGES(HP:0005337)	[MAP2K1(5604), MAP2K2(5605), KRAS(3845), BRAF(673)]
SHALLOW ORBITS(HP:0000586)	[FBN1(2200), ESCO2(157570), TWIST1(7291), ADAMTS10(81794), FGFR1(2260), FGFR2(2263), FLNB(2317)]
SHAWL SCROTUM(HP:0000049)	[EP300(2033), ATRX(546), CREBBP(1387), FGD1(2245), TBX3(6926), EFNB1(1947)]
SHELL TEETH(HP:0000694)	[DSPP(1834)]
SHIELD CHEST(HP:0000914)	[PTPN11(5781)]
SHORT 5TH FINGER WITH ABSENT/RUDIMENTARY MIDDLE PHALANX(HP:0005813)	[GJA1(2697)]
SHORT AND SMALL ILIAC BONES(HP:0003178)	[FGFR3(2261)]
SHORT ATTENTION SPAN(HP:0000736)	[EP300(2033), AUH(549), TBX1(6899), CC2D1A(54862), SLC6A8(6535), MED12(9968), THRB(7068), DGCR(1714), SLITRK1(114798), IGF1(3479), CREBBP(1387), PRKCG(5582), FGD1(2245), GNE(10020), PAK3(5063)]
SHORT BROAD HANDS(HP:0001174)	[GPC3(2719), FGD1(2245), FGFR1(2260), GATA1(2623), DCR(1637)]
SHORT CLAVICLES(HP:0000894)	[HOXD13(3239), FLNA(2316), B4GALT7(11285)]
SHORT DIAPHYSES(HP:0000941)	[LBR(3930)]
SHORT FEET(HP:0001766)	[ADAMTSL2(9719), TRPS1(7227), MKKS(8195), GPC3(2719), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), FGFR1(2260), ARL6(84100), BBS4(585), GDF5(8200), CEP290(80184), BBS12(166379), MKS1(54903), BBS10(79738), NOG(9241), BBS7(55212), FGD1(2245), COL2A1(1280), BBS9(27241), TTC8(123016)]
SHORT FEMORA WITH PROXIMAL CLUBBING AND DISTAL TAPERING(HP:0006408)	[FLNB(2317)]
SHORT FEMORAL NECK(HP:0003032)	[TRAPPC2(6399), TRPV4(59341), COMP(1311), MATN3(4148), FGFR3(2261), IHH(3549), SHOX(6473), BMPR1B(658)]
SHORT FEMUR(HP:0003097)	[SLC26A2(1836), GNPAT(8443), GDF5(8200), IHH(3549), FLNB(2317)]
SHORT FIBULAE(HP:0002985)	[SOX9(6662), FAM123B(139285), GPC6(10082), GDF5(8200)]
SHORT FIRST METATARSAL(HP:0004680)	[HOXA13(3209)]
SHORT FOURTH AND FIFTH TOES(HP:0008093)	[TBX3(6926)]
SHORT FOURTH METATARSALS(HP:0004689)	[PHYH(5264), NSD1(64324), PEX7(5191)]
SHORT HUMERI(HP:0003014)	[NOG(9241), GNPAT(8443), GPC6(10082), CHST3(9469), GDF5(8200), FLNA(2316), FLNB(2317), ATP7A(538)]
SHORT LIMB DWARFISM(HP:0003505)	[HSPG2(3339), COMP(1311), FGFR3(2261), EVC2(132884), GDF5(8200), B3GALTL(145173), DDR2(4921), FLNB(2317), SLC26A2(1836), LBR(3930), RMRP(6023), SOX9(6662), MATN3(4148), ALPL(249), COL2A1(1280), PPIB(5479), COL1A1(1277), EVC(2121), BMPR1B(658), LEPRE1(64175), CANT1(124583)]
SHORT LIMB DWARFISM, DISPROPORTIONATE(HP:0008881)	[BMPR1B(658)]
SHORT LINGUAL FRENULUM(HP:0000200)	[B3GALTL(145173)]
SHORT LONG BONES(HP:0003026)	[ADAMTSL2(9719), COMP(1311), NPR2(4882), FGFR3(2261), EVC2(132884), ROR2(4920), COL11A2(1302), DDR2(4921), LIFR(3977), SLC26A2(1836), RMRP(6023), MATN3(4148), SH3PXD2B(285590), COL2A1(1280), PTH1R(5745), GNPTAB(79158), EVC(2121)]
SHORT MANDIBULAR RAMI(HP:0003778)	[KCNJ2(3759)]
SHORT METACARPALS WITH ROUNDED PROXIMAL ENDS(HP:0006161)	[ADAMTSL2(9719)]
SHORT MIDDLE PHALANGES (FEET)(HP:0003795)	[FGFR3(2261)]
SHORT NAILS(HP:0001799)	[NPR2(4882), ZMPSTE24(10269), FLNB(2317)]
SHORT NASAL BRIDGE(HP:0003194)	[FKRP(79147), POMGNT1(55624)]
SHORT NASAL SEPTUM(HP:0000420)	[ARSE(415), TFAP2A(7020)]
SHORT NECK(HP:0000470)	[TRAPPC2(6399), HSPG2(3339), FBN2(2201), GUSB(2990), ATRX(546), RAPSN(5913), MYH3(4621), FGFR1(2260), MECP2(4204), FLNB(2317), IDS(3423), SLC26A2(1836), MED12(9968), PTPN11(5781), ESCO2(157570), RMRP(6023), BUB1B(701), SOS1(6654), HRAS(3265), IGBP1(3476), DYM(54808), GPC6(10082), FGD1(2245), SLC35D1(23169), COL2A1(1280), GDF6(392255), GLB1(2720), SMARCAL1(50485), GNAS(2778), TRIP11(9321), TFAP2A(7020), EFNB1(1947), NIPBL(25836), ALDOA(226), LIFR(3977), EBP(10682), TRPV4(59341), MKS1(54903), DLL3(10683), OFD1(8481), DOK7(285489), CUL7(9820), GNPTG(84572), CHST3(9469), KIAA1279(26128), MGAT2(4247)]
SHORT PHALANGES BOTH HANDS AND FEET(HP:0005035)	[SOX9(6662)]
SHORT PHILTRUM(HP:0000322)	[WHCR(7467), VPS13B(157680), WHSC1(7468), OPHN1(4983), TBX1(6899), TFAP2B(7021), GLI3(2737), MED12(9968), RAB3GAP2(25782), NOG(9241), DGCR(1714), KIAA1279(26128), PQBP1(10084), PITX2(5308)]
SHORT PR INTERVAL AND PROLONGED QRS, WITH SLURRED-UP STROKE OF THE R WAVE ON EKG(HP:0006677)	[PRKAG2(51422)]
SHORT PROXIMAL AND MIDDLE PHALANGES(HP:0006144)	[COL2A1(1280), GDF5(8200)]
SHORT RADIUS(HP:0002995)	[FGF10(2255), NPR2(4882), TRIP11(9321), FGFR3(2261), GDF5(8200)]
SHORT RIBS(HP:0000773)	[DYNC2H1(79659), EVC2(132884), FGFR3(2261), NSD1(64324), DDR2(4921), RUNX2(860), LBR(3930), ALPL(249), SLC35D1(23169), COL2A1(1280), PTH1R(5745), IHH(3549), EVC(2121)]
SHORT SCAPULAE(HP:0000906)	[TRIP11(9321), TBX15(6913), FGFR1(2260), TBX3(6926), FGFR3(2261), FLNA(2316), RUNX2(860), SOX9(6662), DYM(54808), NSDHL(50814), SLC35D1(23169), GNPTAB(79158), ACTB(60)]
SHORT STATURE, DISPROPORTIONATE(HP:0003498)	[SMARCAL1(50485), NPR2(4882), PCNT(5116), TBX15(6913), AGPS(8540), SHOX(6473), FLNB(2317), TRPV4(59341), RMRP(6023), PAPSS2(9060), GNPAT(8443), DYM(54808), COL2A1(1280), IHH(3549), WNT7A(7476), LEPRE1(64175), CANT1(124583)]
SHORT STATURE, DISPROPORTIONATE (SHORT TRUNK)(HP:0003521)	[TRPV4(59341), DYM(54808), COL2A1(1280)]
SHORT STATURE, DISPROPORTIONATE MESOMELIC(HP:0008845)	[SHOX(6473)]
SHORT STATURE, DISPROPORTIONATE SHORT-LIMBED(HP:0008873)	[AGPS(8540)]
SHORT STATURE, PROPORTIONATE(HP:0003499)	[FBN1(2200), ADAMTS10(81794), ATR(545), ACAN(176)]
SHORT STATURE, SEVERE(HP:0003510)	[PTH1R(5745)]
SHORT STEPPED SHUFFLING GAIT(HP:0007311)	[UCHL1(7345), TBP(6908), MAPT(4137), DBH(1621), DCTN1(1639)]
SHORT STERNUM(HP:0000879)	[NOG(9241), BUB1B(701), NIPBL(25836)]
SHORT TAPERING FINGERS(HP:0005795)	[OFD1(8481)]
SHORT THIRD, FOURTH, FIFTH METACARPALS(HP:0006004)	[FLNA(2316)]
SHORT TIBIA(HP:0002993)	[GPC6(10082), GDF5(8200), SHOX(6473)]
SHORT TRUNK(HP:0001524)	[TRAPPC2(6399), SMARCAL1(50485), TRPV4(59341), DLL3(10683), TRIP11(9321), DYM(54808), COL2A1(1280)]
SHORT TUBULAR BONES (HAND)(HP:0001248)	[COL2A1(1280)]
SHORT TUBULAR BONES WITH MILD METAPHYSEAL FLARE(HP:0005000)	[FGFR3(2261)]
SHORT ULNA(HP:0002998)	[B2M(567), FGF10(2255), FGFR3(2261), RECQL4(9401), COL2A1(1280), GDF5(8200), JAG1(182), SHOX(6473), BMPR1B(658)]
SHORT UMBILICAL CORD(HP:0001196)	[DOK7(285489), RAPSN(5913), ZMPSTE24(10269)]
SHORT UPPER LIP(HP:0000188)	[WHCR(7467), WHSC1(7468)]
SHORT, BENT LONG BONES(HP:0006382)	[HSPG2(3339)]
SHORT, BOWED LIMBS(HP:0003054)	[PAPSS2(9060), ALPL(249), FGFR1(2260)]
SHORT, BOWED LOWER LIMBS(HP:0005049)	[PAPSS2(9060)]
SHORT, BROAD CLAVICLES(HP:0006651)	[ATP7A(538)]
SHORT, BROAD DISTAL PHALANGES(HP:0006199)	[HOXD13(3239), FLNA(2316)]
SHORT, BROAD FEET(HP:0001773)	[MKKS(8195), GPC3(2719), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), FGFR1(2260), ARL6(84100), BBS4(585), CEP290(80184), BBS12(166379), BBS10(79738), MKS1(54903), BBS7(55212), FGD1(2245), BBS9(27241), TTC8(123016)]
SHORT, BROAD FINGERS(HP:0001497)	[NPR2(4882)]
SHORT, BROAD HALLUCES(HP:0001861)	[GDF5(8200), BMPR1B(658), FLNA(2316)]
SHORT, BROAD LATERALLY DEVIATED HALLUCES(HP:0004700)	[GDF5(8200), BMPR1B(658)]
SHORT, BROAD METACARPALS(HP:0006065)	[NPR2(4882), FGFR1(2260), DDR2(4921)]
SHORT, BROAD METATARSALS(HP:0001865)	[NPR2(4882), FGFR1(2260), FGFR2(2263)]
SHORT, BROAD NOSE(HP:0000438)	[AVP(551), OFD1(8481)]
SHORT, BROAD THUMBS(HP:0001240)	[COL2A1(1280), FLNA(2316)]
SHORT, BROAD TUBULAR BONES(HP:0004983)	[DDR2(4921)]
SHORT, CUBOIDAL METACARPALS(HP:0006011)	[GDF5(8200)]
SHORT, DUMBBELL APPEARANCE OF LONG BONES(HP:0005061)	[SLC26A2(1836), GNPAT(8443), COL2A1(1280)]
SHORT, DUMBBELL FEMUR(HP:0006375)	[SLC26A2(1836), GNPAT(8443)]
SHORT, HORIZONTAL RIBS(HP:0000888)	[COL2A1(1280)]
SHORT, SLENDER LONG BONES(HP:0005064)	[LIFR(3977)]
SHORT, THICK DISTAL PHALANGES(HP:0001221)	[KDM5C(8242)]
SHORT, THICKENED TUBULAR BONES(HP:0005029)	[EVC2(132884), EVC(2121)]
SHORT, UPTURNED NOSE(HP:0000441)	[MAP2K1(5604), MAP2K2(5605), KRAS(3845), ROR2(4920), BRAF(673)]
SHORT, WIDE FEMORAL NECK(HP:0008781)	[COMP(1311), MATN3(4148)]
SHORT, WIDE PHALANGES(HP:0006030)	[NPR2(4882), FGFR1(2260), DDR2(4921)]
SHORT-LIMB DWARFISM IDENTIFIABLE AT BIRTH(HP:0001536)	[SLC26A2(1836), FGFR3(2261), EVC2(132884), COL1A1(1277), EVC(2121)]
SHORT-LIMB DWARFISM IDENTIFIABLE DURING CHILDHOOD(HP:0003523)	[COMP(1311), FGFR3(2261)]
SHORT-LIMB DWARFISM IDENTIFIABLE NEONATALLY(HP:0008894)	[RMRP(6023)]
SHORT-TRUNK DWARFISM IDENTIFIABLE AT BIRTH(HP:0008857)	[COL2A1(1280)]
SHORT-TRUNKED DWARFISM(HP:0003500)	[TRPV4(59341), ARSB(411), GALNS(2588), COL2A1(1280), GLB1(2720)]
SHORTENED BOWED LONG BONES(HP:0005647)	[SH3PXD2B(285590)]
SHORTENED LONG TUBULAR BONES(HP:0004988)	[ADAMTSL2(9719), SH3PXD2B(285590)]
SHORTENED P-R INTERVAL ON EKG(HP:0005165)	[GAA(2548), PRKAG2(51422)]
SHORTENING OF THE ACHILLES TENDON(HP:0004711)	[HRAS(3265), ALS2(57679)]
SHORTENING OF THE TALAR NECK(HP:0008117)	[PHEX(5251)]
SHORTENING OF THE TIBIA(HP:0006436)	[SHOX(6473)]
SHOULDER CONTRACTURES(HP:0003044)	[MYH3(4621)]
SHOULDER GIRDLE MUSCLE ATROPHY(HP:0003724)	[TRPV4(59341), FKRP(79147), TRIM32(22954), SGCB(6443), TPM3(7170), DES(1674)]
SHOULDER GIRDLE MUSCLE WEAKNESS(HP:0003547)	[VCP(7415), FKRP(79147), MYOT(9499), LMNA(4000), TRIM32(22954), MATR3(9782), ANO5(203859)]
SHOULDER WEAKNESS AND ATROPHY(HP:0009009)	[VCP(7415)]
SHUFFLING GAIT(HP:0002362)	[UCHL1(7345), KDM5C(8242), L1CAM(3897), TBP(6908), MAPT(4137), MECP2(4204), DBH(1621), DCTN1(1639)]
SHUNTS(HP:0001693)	[ENG(2022), FOXF1(2294), ACVRL1(94)]
SIDEROBLASTIC ANEMIA(HP:0001924)	[WFS1(7466), ALAS2(212), PUS1(80324), ISCU(23479)]
SILVER-GRAY HAIR(HP:0002218)	[RAB27A(5873), MYO5A(4644), MLPH(79083)]
SIMPLE EARS(HP:0000390)	[FOXL2(668), MED12(9968), TBX15(6913), POR(5447), SLC16A2(6567)]
SIMPLE PARTIAL OCCIPITAL SEIZURES(HP:0007175)	[EPM2A(7957), NHLRC1(378884)]
SIMPLE PARTIAL SEIZURES(HP:0002349)	[LGI1(9211), EPM2A(7957), NHLRC1(378884)]
SIMPLE, CUP-SHAPED EARS(HP:0008531)	[FGF10(2255), FGFR3(2261)]
SINGLE CENTRAL INCISOR(HP:0001573)	[SHH(6469), SIX3(6496), EVC(2121)]
SINGLE MEDIAN MAXILLARY CENTRAL INCISOR(HP:0006315)	[SHH(6469)]
SINGLE UMBILICAL ARTERY(HP:0001195)	[MKS1(54903), HOXD13(3239), WNT3(7473)]
SINGLE VENTRICLE(HP:0001750)	[STRA6(64220)]
SINUS BRADYCARDIA(HP:0001688)	[SCN5A(6331), HCN4(10021), ANK2(287)]
SINUS BRADYCARDIA, ISOLATED(HP:0005137)	[HCN4(10021)]
SINUSITIS(HP:0000246)	[ADA(100), WAS(7454), DNAI1(27019), ATM(472), PNP(4860), TNFRSF13B(23495), BTK(695), NBN(4683), IL2RG(3561), ICOS(29851), DNMT3B(1789)]
SITUS INVERSUS(HP:0001696)	[SLC19A2(10560), DNAI1(27019), NPHP3(27031), UBR1(197131), PQBP1(10084)]
SIX LUMBAR VERTEBRAE(HP:0008416)	[GPC3(2719)]
SKELETAL DYSPLASIA(HP:0002652)	[SMARCAL1(50485), TRAPPC2(6399), ARSB(411), COMP(1311), COL9A3(1299), COL9A2(1298), PEX7(5191), COL9A1(1297), MMP13(4322), COL11A2(1302), DDR2(4921), COL11A1(1301), EIF2AK3(9451), SLC26A2(1836), LBR(3930), PHYH(5264), PAPSS2(9060), MATN3(4148), CHST3(9469), ACAN(176), COL2A1(1280), PTH1R(5745)]
SKELETAL MUSCLE TISSUE SHOWS 14 TO 45% DEPLETION OF MITOCHONDRIAL DNA(HP:0009070)	[TK2(7084)]
SKELETAL MYOPATHY(HP:0003756)	[HADHA(3030), TAZ(6901)]
SKIN CLEAVAGE IN THE LAMINA LUCIDA(HP:0003341)	[LAMB3(3914), ITGB4(3691), LAMC2(3918), ITGA6(3655), LAMA3(3909)]
SKIN DIMPLE OVER APEX OF LONG BONE ANGULATION(HP:0001024)	[ALPL(249)]
SKIN DIMPLES(HP:0010781)	[MED12(9968), WHCR(7467), CD96(10225), WHSC1(7468), ALPL(249)]
SKIN FRAGILITY WITH NON-SCARRING BLISTERING(HP:0007585)	[PLEC(5339)]
SKIN HYPERELASTICITY(HP:0007389)	[FBN1(2200)]
SKIN RASH(HP:0000988)	[BTD(686), STK11(6794), TNFRSF1A(7132), C3(718), HLCS(3141), MVK(4598), LMBRD1(55788)]
SKIN TAGS(HP:0010609)	[TCOF1(6949), SALL1(6299), WHCR(7467), GPC3(2719), WHSC1(7468), FGFR1(2260), FGFR2(2263), FLNB(2317), EYA1(2138), GLI3(2737), ALX3(257), CECR(1055), PTCH1(5727)]
SKULL DEFECT(HP:0001362)	[FRAS1(80144), FREM2(341640), UBR1(197131)]
SLANTING OF THE PALPEBRAL FISSURES(HP:0200006)	[PEX19(5824), MYCN(4613), FBN1(2200), ABCD3(5825), RET(5979), EP300(2033), ATRX(546), PEX2(5828), PEX5(5830), RPS6KA3(6197), ATR(545), PHOX2B(8929), GATA1(2623), MYH3(4621), NSD1(64324), HSD17B4(3295), EDN3(1908), DPM1(8813), BRAF(673), FLNA(2316), DCR(1637), GLI3(2737), MAP2K1(5604), MAP2K2(5605), BUB1B(701), HRAS(3265), MAPK10(5602), SC5DL(6309), TCOF1(6949), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), LRP2(4036), PEX1(5189), PEX7(5191), PTEN(5728), B3GALTL(145173), ROR2(4920), MCPH1(79648), RAB3GAP2(25782), ASCL1(429), AP3B1(8546), GJA1(2697), CHRNG(1146), CREBBP(1387), RECQL4(9401), KIAA1279(26128), ADAMTS2(9509), SNRPN(6638), CD96(10225), EHMT1(79813), ZEB2(9839), FGFR1(2260), FGFR3(2261), NBN(4683), MVK(4598), FGFR2(2263), DHCR24(1718), BDNF(627), MED12(9968), PTPN11(5781), FGF10(2255), SOS1(6654), NDN(4692), CECR(1055), IGBP1(3476), FGD1(2245), PQBP1(10084), PEX26(55670), GDNF(2668), ADAMTSL2(9719), VPS13B(157680), PCNT(5116), TNNI2(7136), CHST14(113189), KRAS(3845), PEX3(8504), TNNT3(7140), SEMA3E(9723), EFNB1(1947), TFAP2A(7020), EIF2AK3(9451), EBP(10682), OFD1(8481), KDM5C(8242), SNAP29(9342), ATP6V0A2(23545), TPM2(7169), CHD7(55636)]
SLEEP APNEA(HP:0010535)	[TRPV4(59341), IDS(3423), FBN1(2200), GJA1(2697), HRAS(3265)]
SLEEP DISTURBANCES(HP:0002360)	[FKRP(79147), SNRPN(6638), EHMT1(79813), LARGE(9215), DDC(1644), ANCR(282), MECP2(4204), DCTN1(1639), SGSH(6448), PPT1(5538), DHCR7(1717), NDN(4692), GNS(2799), CDKL5(6792), SLC2A1(6513), UBE3A(7337), POMT1(10585), HCRT(3060), HGSNAT(138050), MFSD8(256471), SMCR(6600), PSEN2(5664), FKTN(2218), SLC9A6(10479), SLITRK1(114798), RAI1(10743), NAGLU(4669), POMT2(29954)]
SLEEP-WAKE CYCLE DISTURBANCE(HP:0006979)	[DHCR7(1717), CDKL5(6792), ANCR(282), MECP2(4204), UBE3A(7337), PSEN2(5664)]
SLEEPY FACIAL EXPRESSION(HP:0005335)	[DNM2(1785), MYF6(4618)]
SLENDER FEET(HP:0001786)	[PQBP1(10084)]
SLENDER FINGERS(HP:0001238)	[FBN1(2200), FBN2(2201), PLOD1(5351), UPF3B(65109), TGFBR1(7046), FGFR1(2260), FGFR2(2263), FLNA(2316), B4GALT7(11285), COL11A1(1301), MTM1(4534), MED12(9968), COL6A1(1291), MYH7(4625), COL6A2(1292), COL6A3(1293), COL2A1(1280), CBS(875), LAMB1(3912), ALG3(10195), CHST14(113189), CHRNG(1146), POR(5447), CTSC(1075), SMS(6611), HSD17B10(3028)]
SLENDER FOREARM BONES(HP:0003969)	[RAB3GAP2(25782)]
SLENDER LONG BONES(HP:0003096)	[LIFR(3977)]
SLENDER NOSE(HP:0000417)	[ERCC8(1161), ERCC6(2074)]
SLENDER ULNA(HP:0003992)	[RAB3GAP2(25782)]
SLENDER, TAPERING FINGERS(HP:0006098)	[ATRX(546)]
SLIT-LIKE OPENINGS OF THE EXTERIOR AUDITORY MEATUS(HP:0008588)	[SALL4(57167)]
SLOPING FOREHEAD(HP:0000340)	[CTSD(1509), MKS1(54903), PCNT(5116), ATR(545), NBN(4683), ERCC6(2074), ASPM(259266), CPT2(1376), RELN(5649), MCPH1(79648), SC5DL(6309)]
SLOPING SHOULDERS(HP:0001556)	[TRPV4(59341), PTCH1(5727), SEMA3E(9723), CHD7(55636), EYA1(2138)]
SLOW PROGRESSION(HP:0003677)	[MYOT(9499), TRIM32(22954), ITPR1(3708), SETX(23064), GAN(8139), FLNC(2318), SLC34A2(10568), PLP1(5354), DCTN1(1639), GARS(2617), MYF6(4618), LRRK2(120892), MYH7(4625), TTN(7273), ALS2(57679), CLN8(2055), DNM2(1785), POMT1(10585), SEPN1(57190), KIF1B(23095), DYSF(8291), EMD(2010), PARK7(11315), VMA21(203547), SPTBN2(6712), MPZ(4359), PRKCG(5582), ATP7A(538), RYR1(6261), LMNA(4000), FZD4(8322), MECP2(4204), FGF14(2259), PINK1(65018), CRYAB(1410), COL6A1(1291), SOS1(6654), KCNC3(3748), COL6A2(1292), COL6A3(1293), TEAD1(7003), BSCL2(26580), SMN1(6606), CLCN5(1184), MFN2(9927), WNK1(65125), HADHB(3032), PANK2(80025), PDE8B(8622), GAA(2548), PMP22(5376), AR(367), HADHA(3030)]
SLOW SACCADES(HP:0000514)	[ATXN7(6314), ATXN8OS(6315), ATXN8(724066), ATXN1(6310), ATXN2(6311)]
SLOW-GROWING HAIR(HP:0002217)	[MAP2K1(5604), MAP2K2(5605), TRPS1(7227), GJB6(10804), GJA1(2697), KRAS(3845), EDAR(10913), BRAF(673), EDARADD(128178)]
SLOWED HORIZONTAL SACCADES(HP:0007885)	[GBA(2629)]
SLOWING MENTAL DEVELOPMENT BY 1.5 TO 3 YEARS OF AGE(HP:0002402)	[HGSNAT(138050), GNS(2799), NAGLU(4669)]
SLOWLY PROGRESSIVE VISUAL LOSS(HP:0007753)	[RS1(6247)]
SLURRED SPEECH(HP:0001350)	[NSD1(64324), ABCD1(215), NEU1(4758), GLB1(2720)]
SMALL 'ONION BULBS' MAY BE PRESENT(HP:0003389)	[MFN2(9927), LMNA(4000), KIF1B(23095), RAB7A(7879)]
SMALL ABNORMALLY FORMED SCAPULAE(HP:0006584)	[FGFR3(2261)]
SMALL AND LARGE VESSEL VASCULITIS(HP:0005310)	[WAS(7454)]
SMALL ANTERIOR FONTANELLE(HP:0000237)	[MYCN(4613), ATR(545)]
SMALL BUT STRUCTURALLY NORMAL CEREBRAL CORTEX(HP:0007151)	[CDK5RAP2(55755)]
SMALL CAPITAL FEMORAL EPIPHYSES(HP:0003090)	[TRAPPC2(6399), SMARCAL1(50485), ADAMTSL2(9719), COL11A2(1302)]
SMALL CEREBRAL CORTEX(HP:0002472)	[CENPJ(55835), CDK5RAP2(55755), ASPM(259266), MCPH1(79648)]
SMALL CERVICAL VERTEBRAL BODIES(HP:0004629)	[ACVR1(90)]
SMALL CHEST(HP:0001590)	[SLC26A2(1836), HSPG2(3339), DOK7(285489), GBA(2629), MATN3(4148), RAPSN(5913), GNE(10020), DDR2(4921)]
SMALL CHIN(HP:0000331)	[EDA(1896), UPK3A(7380), RET(5979), RECQL4(9401), FLNA(2316)]
SMALL EARS(HP:0000409)	[FKRP(79147), ATRX(546), LARGE(9215), TWIST1(7291), GATA1(2623), FGFR2(2263), LMBRD1(55788), GLI3(2737), DCR(1637), EYA1(2138), MED12(9968), FGF3(2248), FREM2(341640), POMT1(10585), HOXA2(3199), ABHD5(51099), FRAS1(80144), BMP4(652), SALL1(6299), PCNT(5116), TP63(8626), TFAP2A(7020), SEMA3E(9723), FKTN(2218), FAM123B(139285), GBA(2629), CHD7(55636), POMT2(29954)]
SMALL EPIPHYSES(HP:0010585)	[RMRP(6023)]
SMALL EPIPHYSES OF THE METACARPALS(HP:0009194)	[IHH(3549)]
SMALL EYES(HP:0001143)	[FKRP(79147), LARGE(9215), TBX15(6913), ERCC3(2071), SALL4(57167), STRA6(64220), ERCC6(2074), GLI3(2737), ESCO2(157570), IKBKG(8517), ALX3(257), SOX2(6657), PTCH1(5727), FANCD2(2177), RPGRIP1L(23322), FANCC(2176), FANCE(2178), POMT1(10585), MFRP(83552), TCOF1(6949), BMP4(652), TMEM216(51259), BCOR(54880), LRP5(4041), FOXL2(668), FKTN(2218), MKS1(54903), GJA1(2697), RECQL4(9401), RAB3GAP1(22930), POMT2(29954), NHS(4810), HCCS(3052), OCRL(4952), PAX2(5076), NDP(4693), RAX(30062), CECR(1055), WNT3(7473), FREM2(341640), FRAS1(80144), FOXC2(2303), SHH(6469), FOXE3(2301), BEST1(7439), FANCA(2175), PORCN(64840), HYLS1(219844), TFAP2A(7020), SIX6(4990), EBP(10682)]
SMALL FACE(HP:0000274)	[INSR(3643), FGFR3(2261), FLNA(2316), B4GALT7(11285), GHR(2690)]
SMALL FEET(HP:0001764)	[SNRPN(6638), CUL4B(8450), TBCE(6905), KDM5C(8242), NDN(4692), KCNJ2(3759), CCBE1(147372), RECQL4(9401), MECP2(4204)]
SMALL FONTANELLES(HP:0005486)	[MCPH1(79648)]
SMALL FOR GESTATIONAL AGE INFANT(HP:0008862)	[H19(283120)]
SMALL FORAMEN MAGNUM(HP:0002677)	[FGFR3(2261)]
SMALL FOREHEAD(HP:0000350)	[KDM5C(8242), TFAP2A(7020)]
SMALL HANDS(HP:0001165)	[ADAMTSL2(9719), TRPS1(7227), SNRPN(6638), TBCE(6905), GPC3(2719), NEFL(4747), GATA1(2623), FGFR1(2260), CCBE1(147372), ROR2(4920), COL11A2(1302), DPM1(8813), DDR2(4921), DCR(1637), RMRP(6023), NDN(4692), CRLF1(9244), KCNJ2(3759), FGD1(2245), RECQL4(9401), EVC(2121)]
SMALL ILIAC BODIES(HP:0005740)	[FLNB(2317)]
SMALL ILIAC WINGS(HP:0003169)	[TRAPPC2(6399), SOX9(6662), PCNT(5116), DYM(54808), NSD1(64324), COL2A1(1280)]
SMALL ILIAC WINGS WITH CONCAVE INFERIOR AND MEDIAL MARGIN(HP:0008837)	[COL2A1(1280)]
SMALL INTESTINE CARCINOID(HP:0006722)	[APC(324)]
SMALL LYMPH NODES(HP:0002732)	[DCLRE1C(64421), PNP(4860), BTK(695)]
SMALL MANDIBLE WITH OBTUSE ANGLE(HP:0005446)	[FLNA(2316)]
SMALL NAILS(HP:0001813)	[ADAMTSL2(9719), TP63(8626), FGFR2(2263), MSX1(4487)]
SMALL NOSE WITH LOW NASAL BRIDGE(HP:0004506)	[FGFR1(2260), FGFR2(2263)]
SMALL OR ABNORMAL PLACENTA(HP:0006266)	[DOK7(285489), RAPSN(5913)]
SMALL PELVIS(HP:0003373)	[CUL7(9820), ERCC8(1161), ERCC6(2074)]
SMALL POINTED CHIN(HP:0005330)	[FLNA(2316)]
SMALL PROXIMAL FEMORAL EPIPHYSES(HP:0003374)	[MATN3(4148)]
SMALL SACROILIAC NOTCHES(HP:0003185)	[GPC3(2719), SBDS(51119), FGFR3(2261)]
SMALL SHALLOW ORBITS(HP:0002706)	[FBN1(2200), ADAMTS10(81794)]
SMALL TONGUE(HP:0000226)	[BMP4(652), MYH3(4621)]
SMALL TRIANGULAR NOSE(HP:0005270)	[ATRX(546)]
SMALL VERTEBRAL BODIES(HP:0002773)	[ACVR1(90)]
SMALL, DYSPLASTIC NAILS(HP:0008412)	[ALG3(10195)]
SMALL, FLARED ILIAC WINGS(HP:0003181)	[EP300(2033), ARSB(411), CREBBP(1387), IHH(3549)]
SMALL, FLATTENED EPIPHYSES(HP:0005051)	[MMP13(4322), EIF2AK3(9451)]
SMALL, HIGH-PITCHED VOICE(HP:0008379)	[HSPG2(3339)]
SMALL, IRREGULAR CAPITAL FEMORAL EPIPHYSES(HP:0005041)	[ADAMTSL2(9719)]
SMALL, IRREGULAR CARPAL BONES(HP:0006029)	[GNPTAB(79158)]
SMALL, IRREGULAR CARPAL CENTERS(HP:0006227)	[EIF2AK3(9451)]
SMALL, IRREGULAR CARPALS(HP:0006072)	[COMP(1311), EIF2AK3(9451)]
SMALL, IRREGULAR DISTAL FEMORAL EPIPHYSES(HP:0006407)	[COL11A1(1301)]
SMALL, IRREGULAR EPIPHYSES(HP:0003039)	[COMP(1311), MATN3(4148), COL9A3(1299)]
SMALL, IRREGULAR PROXIMAL TIBIAL EPIPHYSES(HP:0006456)	[COL11A1(1301)]
SMALL, IRREGULARLY PLACED TEETH(HP:0009081)	[COL5A2(1290), COL5A1(1289), COL1A1(1277)]
SMALL, MALFORMED EARS(HP:0008569)	[B3GALTL(145173)]
SMALL, POINTED NOSE(HP:0000450)	[GJA1(2697), TWIST1(7291), FGFR2(2263)]
SMALL, POSTERIORLY ROTATED EARS(HP:0008535)	[DOK7(285489), RAPSN(5913)]
SMALL, SHORT NOSE(HP:0003192)	[INS(3630), KCNJ11(3767), GCK(2645), FGD1(2245), ABCC8(6833)]
SMALL, SIMPLE EARS(HP:0000379)	[MED12(9968), TBX15(6913)]
SMALL, SQUARED OFF PELVIS(HP:0003278)	[ERCC8(1161), ERCC6(2074)]
SMALL, TRIANGULAR FACIES(HP:0004662)	[H19(283120)]
SMALL, UPTURNED NOSE(HP:0003195)	[DNMT3B(1789)]
SMALL, WIDELY SPACED TEETH(HP:0006307)	[DLX3(1747)]
SMOOTH MUSCLE ANTIBODY POSITIVE(HP:0003262)	[FAS(355), CASP10(843)]
SOCIAL AND OCCUPATIONAL DETERIORATION(HP:0007086)	[DISC2(27184)]
SOFT CALVARIA(HP:0002701)	[COL1A1(1277)]
SOFT SKIN(HP:0000977)	[EDA(1896), PLOD1(5351), TNXB(7148), TGFBR1(7046), COL1A2(1278), COL3A1(1281), ATP7A(538), ADAMTS2(9509)]
SOFT TISSUE SWELLING OF INTERPHALANGEAL JOINTS(HP:0006162)	[GNPTAB(79158)]
SOFT TISSUE SYNDACTYLY OF TOES 2, 3, AND 4(HP:0005768)	[GJA1(2697)]
SOFT VOICE(HP:0001621)	[UCHL1(7345), TBP(6908), MAPT(4137), DBH(1621), DCTN1(1639)]
SOFT, DOUGHY SKIN(HP:0001027)	[ADAMTS2(9509)]
SOFT, THIN SKIN(HP:0001020)	[EDA(1896), PLOD1(5351)]
SOLITARY PARATHYROID ADENOMAS(HP:0008257)	[CDC73(79577)]
SOMATIC MOSAICISM(HP:0001442)	[ADA(100), GNAS(2778), COL2A1(1280), COL1A1(1277)]
SOMATIC MUTATION(HP:0001428)	[BCR(613), PIK3CA(5290), BRCA2(675), H19(283120), CTNNB1(1499), PDGFRL(5157), MUTYH(4595), PDGFRA(5156), PHB(5245), THPO(7066), COL2A1(1280), MET(4233), ADA(100), GNAS(2778), GPC3(2719), AIP(9049), WT2(7491), WT1(7490), JAK2(3717), SSTR5(6755), MPL(4352), BCL2(596), RB1(5925), CASP8(841), COL1A1(1277), TP53(7157), AXIN1(8312)]
SOMNOLENCE(HP:0001262)	[DPYS(1807), SLC22A5(6584), HMGCL(3155)]
SPARSE AXILLARY HAIR(HP:0002215)	[TP63(8626), TBX3(6926), AR(367)]
SPARSE BODY HAIR(HP:0002231)	[TP63(8626)]
SPARSE BONE TRABECULAE(HP:0002752)	[CLCN5(1184), CYP27B1(1594), SLC34A3(142680), VDR(7421), CYP2R1(120227)]
SPARSE EYEBROWS(HP:0000535)	[KRT6B(3854), GJB6(10804), TRPS1(7227), ST14(6768), SPINK5(11005), SAT1(6303), TP63(8626), KRT17(3872), EDARADD(128178), EBP(10682), CDH3(1001), RMRP(6023), DSP(1832), GJA1(2697), DOLK(22845), WNT10A(80326), EDAR(10913), PVRL1(5818), HR(55806)]
SPARSE EYEBROWS AND EYELASHES(HP:0002222)	[RMRP(6023), SAT1(6303), EDAR(10913), EDARADD(128178), HR(55806)]
SPARSE EYEBROWS, EYELASHES, AND BEARD(HP:0004531)	[RMRP(6023)]
SPARSE EYELASHES(HP:0000653)	[NOP10(55505), TCOF1(6949), GJB6(10804), SAT1(6303), CLDN1(9076), TP63(8626), DKC1(1736), NHP2(55651), ZMPSTE24(10269), GJB2(2706), EDARADD(128178), EBP(10682), CDH3(1001), EDA(1896), RMRP(6023), DSP(1832), GJA1(2697), DOLK(22845), EDAR(10913), PVRL1(5818), HR(55806)]
SPARSE HAIR(HP:0008070)	[TRPS1(7227), TINF2(26277), SPINK5(11005), LMNA(4000), NSD1(64324), TBX3(6926), NHP2(55651), KRT17(3872), B4GALT7(11285), ZMPSTE24(10269), MED12(9968), CDH3(1001), IKBKG(8517), RMRP(6023), ESCO2(157570), SLC7A7(9056), HRAS(3265), UBR1(197131), NOP10(55505), KRT6B(3854), ST14(6768), PCNT(5116), TERC(7012), KAL1(3730), TERT(7015), TP63(8626), SEC23A(10484), PORCN(64840), DCAF17(80067), GJA1(2697), RECQL4(9401), WNT10A(80326), AR(367), MSX1(4487)]
SPARSE LATERAL EYEBROWS(HP:0005338)	[TRPS1(7227)]
SPARSE OR ABSENT HAIR(HP:0002115)	[BTD(686), TINF2(26277), SPINK5(11005), CLDN1(9076), NSD1(64324), MCCC2(64087), TBX3(6926), VDR(7421), EDARADD(128178), B4GALT7(11285), EDA(1896), IKBKG(8517), ESCO2(157570), SLC7A7(9056), HRAS(3265), NSDHL(50814), HLCS(3141), UBR1(197131), SAT1(6303), NTRK1(4914), SEC23A(10484), SOX18(54345), UROD(7389), DKC1(1736), PEX7(5191), UROS(7390), DCAF17(80067), GJA1(2697), FST(10468), RECQL4(9401), WNT10A(80326), MSX1(4487), PLEC(5339), GJB6(10804), TRPS1(7227), KRT81(3887), LMNA(4000), NHP2(55651), BCS1L(617), KRT17(3872), ZMPSTE24(10269), AIRE(326), CDH3(1001), MED12(9968), RMRP(6023), COL7A1(1294), DSP(1832), RAG2(5897), RAG1(5896), CDSN(1041), KRT86(3892), COL3A1(1281), EDAR(10913), KRT83(3889), HFE(3077), KRT85(3891), HR(55806), ACVR1(90), NOP10(55505), KRT6B(3854), ST14(6768), SLC39A4(55630), PCNT(5116), TERC(7012), KAL1(3730), TERT(7015), DCLRE1C(64421), TP63(8626), PORCN(64840), OFD1(8481), KDM5C(8242), ALMS1(7840), KRT14(3861), AR(367), PVRL1(5818)]
SPARSE PUBIC HAIR(HP:0002225)	[KAL1(3730), TP63(8626), WNT10A(80326), AR(367)]
SPARSE SCALP HAIR(HP:0002209)	[NOP10(55505), CDH3(1001), KRT6B(3854), LMNA(4000), SPINK5(11005), PCNT(5116), TP63(8626), NHP2(55651), UBR1(197131), KRT17(3872), B4GALT7(11285)]
SPARSE TO ABSENT AXILLARY HAIR(HP:0004545)	[AR(367)]
SPARSE TO ABSENT EYELASHES(HP:0002284)	[TCOF1(6949), EDA(1896), TP63(8626), ZMPSTE24(10269), GJB2(2706)]
SPARSE TO ABSENT PUBIC HAIR(HP:0004778)	[AR(367)]
SPARSE, BRITTLE SCALP HAIR(HP:0004779)	[SPINK5(11005)]
SPARSE, FINE HAIR(HP:0002291)	[IKBKG(8517), TRPS1(7227), RMRP(6023), SLC7A7(9056), GJA1(2697), TP63(8626), DCAF17(80067), MSX1(4487)]
SPARSE, SLOW-GROWING HAIR(HP:0004770)	[GJA1(2697)]
SPARSE, THIN SCALP HAIR(HP:0002233)	[SPINK5(11005), TP63(8626)]
SPASTIC ATAXIA(HP:0002497)	[MMADHC(27249), SACS(26278)]
SPASTIC DIPLEGIA(HP:0001264)	[SOX2(6657), AGA(175), PNP(4860), AASS(10157), RAB3GAP1(22930), GCDH(2639), GAD1(2571)]
SPASTIC DYSARTHRIA(HP:0002464)	[ALS2(57679)]
SPASTIC GAIT(HP:0002064)	[BSCL2(26580), NIPA1(123606), ZFYVE26(23503), ATL1(51062), SPG11(80208), KIF5A(3798), CCT5(22948), HSPD1(3329), SPG7(6687), CYP7B1(9420), MECP2(4204), PLP1(5354), KCNA1(3736), KIAA0196(9897), SPAST(6683), SPG20(23111), ALS2(57679)]
SPASTIC PARAPARESIS(HP:0002313)	[SLC25A15(10166), SOX10(6663), GBA(2629), SPG21(51324), GJC2(57165), EDNRB(1910)]
SPASTIC PARAPLEGIA(HP:0001258)	[NIPA1(123606), ZFYVE26(23503), SPG11(80208), KIF5A(3798), CCT5(22948), GAN(8139), HSPD1(3329), SPG7(6687), CYP7B1(9420), PLP1(5354), KIAA0196(9897), PAX3(5077), SLC16A2(6567), SPG20(23111), KDM5C(8242), L1CAM(3897), ALS2(57679), PDHX(8050), ABCD1(215)]
SPASTIC PARAPLEGIA, LOWER LIMB(HP:0007062)	[ALS2(57679)]
SPASTIC PARAPLEGIA, SLOWLY PROGRESSIVE(HP:0007255)	[KDM5C(8242)]
SPASTIC TETRAPARESIS(HP:0001285)	[PSAP(5660), GPHN(10243), PSEN1(5663), ALS2(57679), GSS(2937), MOCS2(4338), MOCS1(4337), L2HGDH(79944)]
SPASTIC TETRAPLEGIA(HP:0002510)	[ARSA(410), PLA2G6(8398), AUH(549), MCOLN1(57192), SLC16A2(6567), TUBA1A(7846), SOX10(6663), ARX(170302), SOX2(6657), ALS2(57679), PDHX(8050), FUCA1(2517), PHGDH(26227), GLB1(2720)]
SPASTICITY(HP:0001257)	[FKRP(79147), AUH(549), TINF2(26277), ATRX(546), ATXN8(724066), SACS(26278), NSD1(64324), GAN(8139), GJC2(57165), SLC6A19(340024), MCCC1(56922), EDNRB(1910), SLC16A2(6567), ATXN7(6314), IKBKG(8517), ATXN8OS(6315), COX15(1355), NPC1(4864), CRLF1(9244), ATXN2(6311), GLB1(2720), NIPA1(123606), KIF5A(3798), PEX7(5191), NUP62(23636), SURF1(6834), MCOLN1(57192), ABCC8(6833), MCPH1(79648), ACOX1(51), C20orf7(79133), GJA1(2697), DBT(1629), SLC17A5(26503), ACP2(53), SIL1(64374), NAGA(4668), SUOX(6821), MAN2B1(4125), ATP7A(538), TOR1A(1861), NDUFS7(374291), FBXO7(25793), PDHA1(5160), LMNB1(4001), GPR56(9289), SDHA(6389), BCS1L(617), MECP2(4204), POLG(5428), PRPS2(5634), PSAP(5660), SPG20(23111), PSEN1(5663), CYP27A1(1593), NDUFA1(4694), POLA1(5422), TREM2(54209), NDUFA2(4695), SOD1(6647), FUCA1(2517), FTL(2512), PQBP1(10084), C8orf38(137682), BSCL2(26580), HPRT1(3251), POMGNT1(55624), SPG21(51324), OPHN1(4983), ARG1(383), NDUFA11(126328), NDUFAF4(29078), KCNA1(3736), NDUFS1(4719), ATP13A2(23400), TUBA1A(7846), NDUFS3(4722), BCKDHA(593), NDUFV1(4723), NDUFS2(4720), KDM5C(8242), PANK2(80025), BCKDHB(594), NDUFS6(4726), NDUFS4(4724), TYROBP(7305), NDUFS8(4728), SDHAF1(644096), SMPD1(6609), HSD17B10(3028), PRNP(5621), SLC25A15(10166), ARSA(410), PLA2G6(8398), SLC25A22(79751), ATL1(51062), ERCC2(2068), CCT5(22948), PRPS1(5631), SPG7(6687), ERCC6(2074), KIAA0196(9897), PLP1(5354), NDUFAF2(91942), BRAF(673), SPAST(6683), MAP2K1(5604), MAP2K2(5605), SOX10(6663), TTR(7276), SOX2(6657), ATXN3(4287), NPC2(10577), ALS2(57679), HLCS(3141), AASS(10157), GALC(2581), ASPA(443), AGA(175), NDUFAF3(25915), SPG11(80208), QDPR(5860), DLD(1738), PSAT1(29968), L2HGDH(79944), CTSD(1509), RAB27A(5873), MLC1(23209), ARX(170302), GFM1(85476), RPIA(22934), PDHX(8050), OPA3(80207), RAB3GAP1(22930), XPA(7507), SPR(6697), GAD1(2571), ZFYVE26(23503), HSPD1(3329), CYP7B1(9420), PAX3(5077), EIF2B2(8892), EIF2B5(8893), GPHN(10243), PPT1(5538), DHCR7(1717), L1CAM(3897), SLC2A1(6513), EIF2B4(8890), EIF2B3(8891), GSS(2937), CYB5R3(1727), EIF2B1(1967), ABCD1(215), GFAP(2670), MOCS2(4338), MOCS1(4337), PHGDH(26227), ITM2B(9445), GCH1(2643), ALG3(10195), MFN2(9927), KRAS(3845), TIMM8A(1678), TSEN54(283989), EIF2AK3(9451), ALDH3A2(224), GBA(2629), PNP(4860), GCDH(2639)]
SPASTICITY OF FACIAL MUSCLES(HP:0002491)	[ALS2(57679)]
SPASTICITY OF PHARYNGEAL MUSCLES(HP:0002501)	[ALS2(57679)]
SPASTICITY, HYPERREFLEXIA(HP:0007318)	[HPRT1(3251)]
SPASTICITY, PROGRESSIVE(HP:0002191)	[GJC2(57165), MECP2(4204), HSPD1(3329)]
SPATULATE THUMBS(HP:0001222)	[FLNB(2317)]
SPECKLED CORNEAL DYSTROPHY(HP:0007962)	[PIKFYVE(200576)]
SPEECH AND LANGUAGE DELAY, SEVERE(HP:0007172)	[SLC6A8(6535)]
SPEECH AND LANGUAGE DIFFICULTIES(HP:0002399)	[TPP1(1200), SLC2A1(6513), CLN8(2055), SLC6A8(6535)]
SPEECH DELAY(HP:0002117)	[TH(7054), PGK1(5230), MKKS(8195), AUH(549), BBS5(129880), TRIM32(22954), ARL6(84100), FGFR1(2260), NSD1(64324), CEP290(80184), MECP2(4204), BBS12(166379), CUL4B(8450), THRB(7068), DGCR(1714), IGF1R(3480), PAK3(5063), BBS9(27241), TTC8(123016), ACADS(35), AGA(175), MFSD8(256471), BBS1(582), SMCR(6600), OPHN1(4983), BBS2(583), TBX1(6899), BBS4(585), ALDH7A1(501), TSHR(7253), PTEN(5728), BBS10(79738), MKS1(54903), ARX(170302), BBS7(55212), SLC17A5(26503), RAI1(10743), HSD17B10(3028)]
SPHEROCYTOSIS(HP:0004444)	[SPTB(6710), SPTA1(6708), EPB42(2038), SLC4A1(6521), ANK1(286)]
SPHINCTER DISTURBANCE(HP:0000018)	[ZFYVE26(23503), NIPA1(123606), ATXN3(4287), SPG11(80208), KIF5A(3798), HSPD1(3329), ABCD1(215), SPG7(6687), KIAA0196(9897), ATXN1(6310)]
SPHINCTER DISTURBANCES (BLADDER)(HP:0002839)	[ZFYVE26(23503), NIPA1(123606), ATL1(51062), ATXN3(4287), SPG11(80208), KIF5A(3798), HSPD1(3329), SPG7(6687), KIAA0196(9897), ATXN2(6311), SPAST(6683)]
SPINA BIFIDA(HP:0002414)	[GJA1(2697), HOXD13(3239), AFP(174), NF1(4763), PTCH1(5727), PAX3(5077), LMX1B(4010)]
SPINA BIFIDA OCCULTA(HP:0003298)	[EP300(2033), SALL4(57167), CCBE1(147372), MYH3(4621), PORCN(64840), IRF6(3664), FLNB(2317), PTPN11(5781), CUL7(9820), CREBBP(1387), VANGL1(81839), RECQL4(9401), RAB23(51715)]
SPINAL ARTERIOVENOUS MALFORMATION(HP:0002390)	[ENG(2022), ACVRL1(94)]
SPINAL CANAL STENOSIS(HP:0003416)	[FBN1(2200), NOG(9241), PHF6(84295), ADAMTS10(81794), FGFR3(2261)]
SPINAL CORD COMPRESSION(HP:0002176)	[IDS(3423), SLC26A2(1836), TRPV4(59341), RMRP(6023), PHEX(5251), COMP(1311), ENPP1(5167), NME1(4830), PTEN(5728), DDR2(4921), FLNB(2317)]
SPINAL CORD POSTERIOR COLUMNS MYELIN LOSS(HP:0008311)	[PRPS1(5631)]
SPINAL DEFORMITIES(HP:0008443)	[GDAP1(54332)]
SPINAL DYSRAPHISM(HP:0010301)	[EP300(2033), AFP(174), MYH3(4621), SALL4(57167), CCBE1(147372), PORCN(64840), IRF6(3664), PAX3(5077), LMX1B(4010), FLNB(2317), PTPN11(5781), HOXD13(3239), GJA1(2697), NF1(4763), PTCH1(5727), CUL7(9820), CREBBP(1387), VANGL1(81839), RECQL4(9401), RAB23(51715)]
SPINAL HEMANGIOBLASTOMA(HP:0009713)	[CCND1(595), VHL(7428)]
SPINAL MUSCULAR ATROPHY(HP:0007269)	[SMN1(6606), PLEKHG5(57449), IGHMBP2(3508), ATP7A(538)]
SPINAL NERVE ROOT NEUROFIBROMAS, SYMMETRIC, MULTIPLE(HP:0006851)	[NF1(4763)]
SPINAL NEUROFIBROMAS(HP:0009735)	[NF1(4763)]
SPINAL RIGIDITY(HP:0003306)	[COL6A1(1291), SEPN1(57190), LMNA(4000), COL6A2(1292), COL6A3(1293)]
SPINAL STENOSIS(HP:0008446)	[PHEX(5251), FGFR3(2261), PTEN(5728)]
SPINOCEREBELLAR ATAXIA(HP:0002513)	[TTPA(7274), ABCB7(22), BEAN(146227), SETX(23064)]
SPINOCEREBELLAR ATROPHY(HP:0007263)	[ABCB7(22), BEAN(146227)]
SPINOCEREBELLAR TRACT DEGENERATION(HP:0002503)	[ATXN3(4287), GCLC(2729), ATXN1(6310), PLP1(5354), MAN2B1(4125), ATXN2(6311)]
SPINOCEREBELLAR TRACT DISEASE IN LOWER LIMBS(HP:0007232)	[MAN2B1(4125)]
SPLAYED EPIPHYSES(HP:0200003)	[COL2A1(1280)]
SPLAYED EPIPHYSES AND METAPHYSES(HP:0004978)	[COL2A1(1280)]
SPLAYED METAPHYSES(HP:0200002)	[COL2A1(1280)]
SPLENOMEGALY(HP:0001744)	[GUSB(2990), CPOX(1371), LYZ(4069), SH2D1A(4068), DPM1(8813), ANK1(286), FAH(2184), SLC7A7(9056), THPO(7066), NPC1(4864), CTSA(5476), GNE(10020), GNPTAB(79158), SC5DL(6309), GLB1(2720), GPC3(2719), LYST(1130), UROS(7390), C10orf2(56652), MPL(4352), AP3B1(8546), MPV17(4358), SLC17A5(26503), ATP8B1(5205), NAGLU(4669), MAN2B1(4125), GP1BA(2811), HBB(3043), APOE(348), APOC2(344), PDGFRA(5156), NCF2(4688), PSAP(5660), LPL(4023), GNS(2799), MEFV(4210), RAG2(5897), RAG1(5896), APOA1(335), FUCA1(2517), FGA(2243), BSCL2(26580), ADA(100), SLC39A4(55630), G6PD(2539), CYBB(1536), JAK2(3717), LIPA(3988), TPI1(7167), FAS(355), GAA(2548), CASP10(843), CASP8(841), CASR(846), SMPD1(6609), ARSB(411), BTD(686), ABCD3(5825), CD40LG(959), PEX2(5828), GATA1(2623), ERCC6(2074), BRAF(673), CTNS(1497), MAP2K1(5604), SGSH(6448), IDS(3423), MAP2K2(5605), NPC2(10577), TREX1(11277), ABCB11(8647), FMO3(2328), NEU1(4758), TCIRG1(10312), GALE(2582), GPI(2821), ABCG8(64241), PKLR(5313), ABCG5(64240), PKHD1(5314), AKR1D1(6718), CYBA(1535), BPGM(669), MKS1(54903), LBR(3930), ASAH1(427), TNFSF11(8600), HK1(3098), ERCC8(1161), TNFRSF13B(23495), MVK(4598), CA2(760), DGUOK(1716), NCF1(653361), HEXB(3074), HFE(3077), SLC4A1(6521), HGSNAT(138050), ALG1(56052), DCLRE1C(64421), KRAS(3845), ALDOA(226), CSF3R(1441), GBA(2629), PNP(4860), AGPAT2(10555), GBE1(2632)]
SPONDYLOEPIMETAPHYSEAL DYSPLASIA(HP:0002651)	[PAPSS2(9060), MATN3(4148), MMP13(4322), DDR2(4921)]
SPONDYLOEPIPHYSEAL DYSPLASIA(HP:0002655)	[TRAPPC2(6399), SMARCAL1(50485), CHST3(9469), COL2A1(1280), ACAN(176), COL11A1(1301)]
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA(HP:0005893)	[TRAPPC2(6399)]
SPONDYLOLISTHESIS(HP:0003302)	[FBN1(2200), AGA(175), ZNF469(84627), CTSK(1513), MAN2B1(4125), RUNX2(860)]
SPONDYLOLYSIS(HP:0003304)	[AGA(175), CTSK(1513), FLNA(2316), RUNX2(860), FLNB(2317)]
SPONTANEOUS ESOPHAGEAL PERFORATION(HP:0005203)	[COL7A1(1294)]
SPONTANEOUS HEMOLYTIC CRISES(HP:0005525)	[GPI(2821)]
SPONTANEOUS JOINT HEMORRHAGE(HP:0005196)	[SERPINF2(5345)]
SPONTANEOUS NEONATAL PNEUMOTHORAX(HP:0004876)	[ADAMTS2(9509)]
SPONTANEOUS PNEUMOTHORAX(HP:0002108)	[FLCN(201163), COL3A1(1281), ADAMTS2(9509)]
SPONTANEOUS, RECURRENT EPISTAXIS(HP:0004406)	[ENG(2022), F11(2160), ACVRL1(94)]
SPORADIC(HP:0003745)	[PRNP(5621), FBN1(2200), TINF2(26277), TRIM24(8805), GATA1(2623), ANCR(282), NSD1(64324), MAPT(4137), H19(283120), BRAF(673), DCR(1637), TRIM33(51592), FLNB(2317), MAP2K1(5604), MAP2K2(5605), ALX3(257), CCDC6(8030), CDKL5(6792), HRAS(3265), KIT(3815), NCOA4(8031), STK11(6794), FLT4(2324), UROD(7389), IRF6(3664), TSHR(7253), PTEN(5728), GNASAS(149775), TSC1(7248), PRKAR1A(5573), GJA1(2697), ACTA1(58), RAI1(10743), COL1A1(1277), STX16(8675), KDR(3791), SNRPN(6638), WHCR(7467), CDK4(1019), EHMT1(79813), WHSC1(7468), FLCN(201163), KRIT1(889), FGFR1(2260), TNFRSF13B(23495), APOE(348), FGFR2(2263), MECP2(4204), COL8A2(1296), PDGFRA(5156), PSEN1(5663), NDN(4692), NME1(4830), NLGN4X(57502), CFH(3075), UBE3A(7337), LMNB2(84823), GNAS(2778), CCM2(83605), SMCR(6600), KRAS(3845), PCSK1(5122), SEMA3E(9723), NIPBL(25836), PCM1(5108), JAK2(3717), HOXD13(3239), RB1(5925), GOLGA5(9950), CHD7(55636)]
SPOTTY HYPERPIGMENTATION(HP:0005585)	[FERMT1(55612), BLM(641)]
SPOTTY HYPOPIGMENTATION(HP:0005590)	[FERMT1(55612), BLM(641)]
SPRENGEL ANOMALY(HP:0000912)	[PTCH1(5727), EFNB1(1947), PAX3(5077), GDF6(392255)]
SQUAMOUS CELL CARCINOMA(HP:0002860)	[TINF2(26277), COL7A1(1294), TERC(7012), ERCC3(2071), TERT(7015), TNFRSF10B(8795), RECQL4(9401), DKC1(1736), WNT10A(80326), ING1(3621), BLM(641), GJB2(2706)]
SQUAMOUS CELL CARCINOMA OF THE SKIN(HP:0006739)	[TINF2(26277), TERC(7012), TERT(7015)]
SQUARE FACE(HP:0000321)	[SEMA3E(9723), CHD7(55636), LIFR(3977)]
STAPES ANKYLOSIS(HP:0000381)	[NOG(9241), GDF5(8200)]
STAPHYLOCOCCUS AUREUS INFECTIONS(HP:0002726)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
STARING EPISODES DURING SEIZURES(HP:0002278)	[SCN2A(6326)]
STATUS EPILEPTICUS(HP:0002133)	[CTSD(1509), PCDH19(57526), GABRG2(2566), FH(2271), SCN1A(6323), ALDH5A1(7915), ALDH7A1(501), PRODH(5625), POLG(5428)]
STEATORRHEA(HP:0002570)	[SAR1B(51128), PRSS1(5644), LIPA(3988), PEX2(5828), SPINK1(6690), SBDS(51119), PEX1(5189), AKR1D1(6718), PEX26(55670)]
STENOTIC EXTERNAL AUDITORY CANAL(HP:0000402)	[WHCR(7467), WHSC1(7468), CECR(1055), FGFR1(2260), PORCN(64840), FGFR2(2263), B3GALTL(145173), EYA1(2138)]
STEREOTYPED, REPETITIVE BEHAVIOUR(HP:0000733)	[CHMP2B(25978), PSEN1(5663), GRN(2896), NPC2(10577), RAB39B(116442), NLGN4X(57502), OCRL(4952), MAPT(4137), PRODH(5625), SLC6A8(6535), MGAT2(4247)]
STEREOTYPICAL MOTOR BEHAVIORS(HP:0008758)	[SLC6A8(6535)]
STERNAL OSSIFICATION CENTER ABNORMALITIES(HP:0006624)	[WHCR(7467), WHSC1(7468)]
STERNAL PUNCTATE CALCIFICATIONS(HP:0006637)	[LBR(3930)]
STIFF INTERPHALANGEAL JOINTS(HP:0005198)	[RECQL4(9401)]
STIFF SHOULDERS(HP:0009742)	[TPM2(7169)]
STILLBIRTH(HP:0001624)	[HBZ(3050), GPI(2821), TRIP11(9321), RAPSN(5913), GDF5(8200), HYLS1(219844), PTEN(5728), FLNA(2316), ZMPSTE24(10269), FLNB(2317), SLC26A2(1836), ESCO2(157570), DOK7(285489), ALPL(249), SLC35D1(23169), COL2A1(1280), PTH1R(5745), NEU1(4758)]
STILLBORN OR DEATH IN INFANCY(HP:0003823)	[ALPL(249), GDF5(8200)]
STILLBORN OR DEATH SHORTLY AFTER BIRTH(HP:0001625)	[SLC26A2(1836), COL2A1(1280), PTH1R(5745)]
STILLBORN OR NEONATAL DEATH(HP:0003826)	[SLC35D1(23169), NSDHL(50814)]
STIPPLED CALCIFICATION IN CARPAL BONES(HP:0004241)	[EBP(10682)]
STIPPLED CALCIFICATION OF THE HUMERAL EPIPHYSES(HP:0003901)	[GNPAT(8443)]
STIPPLED CALCIFICATION PROXIMAL HUMERAL EPIPHYSES(HP:0008838)	[GNPAT(8443)]
STIPPLED CHONDRAL CALCIFICATION(HP:0002764)	[ABCD3(5825), PEX2(5828)]
STIPPLING OF THE EPIPHYSES(HP:0010655)	[PEX19(5824), ARSE(415), PEX10(5192), GGCX(2677), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), AGPS(8540), PEX7(5191), MGP(4256), PEX3(8504), SUMF1(285362), DDR2(4921), EBP(10682), LBR(3930), THRB(7068), NSDHL(50814), NEU1(4758), PEX26(55670)]
STOMATOCYTOSIS(HP:0004446)	[GP1BA(2811), STOM(2040), RHAG(6005), SLC4A1(6521)]
STRABISMUS(HP:0000486)	[FBN1(2200), CHAT(1103), ATRX(546), BBS5(129880), ATR(545), MYH3(4621), SETX(23064), SALL4(57167), TGFBR1(7046), NSD1(64324), ANCR(282), HSD17B4(3295), TGFBI(7045), DPM1(8813), GLI3(2737), IKBKG(8517), NOG(9241), HRAS(3265), CDKL5(6792), PTCH1(5727), FANCD2(2177), FANCC(2176), FANCE(2178), UBR1(197131), BBS9(27241), LYST(1130), PEX10(5192), ACADSB(36), PEX13(5194), PEX1(5189), GK(2710), PTEN(5728), SLC6A8(6535), MCOLN1(57192), ACOX1(51), SLC9A6(10479), AP3B1(8546), C20orf7(79133), GJA1(2697), SLC17A5(26503), CHRNE(1145), CREBBP(1387), SIL1(64374), NAGA(4668), CHRNB1(1140), MKKS(8195), SNRPN(6638), ZEB2(9839), GPR56(9289), RAPSN(5913), FGFR1(2260), ALG6(29929), FGFR2(2263), MECP2(4204), BBS12(166379), COL11A1(1301), FGF14(2259), SOS1(6654), NDN(4692), NDUFA1(4694), TUBB3(10381), COL4A1(1282), FGD1(2245), UBE3A(7337), PEX26(55670), TTC8(123016), OPA1(4976), ABHD5(51099), FOXC2(2303), BBS1(582), OPHN1(4983), BBS2(583), TBX1(6899), BBS4(585), PORCN(64840), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), NIPBL(25836), NDUFV1(4723), BBS10(79738), NDUFS2(4720), KDM5C(8242), TYR(7299), CLDN16(10686), NDUFS6(4726), BBS7(55212), NDUFS4(4724), DPAGT1(1798), TYRP1(7306), PRSS12(8492), CRB1(23418), PLA2G6(8398), EP300(2033), TWIST1(7291), TRIM32(22954), PEX5(5830), ARL6(84100), ERCC6(2074), PHOX2A(401), NDUFAF2(91942), BRAF(673), FLNA(2316), MAP2K1(5604), MAP2K2(5605), MITF(4286), TREX1(11277), PMM2(5373), TCOF1(6949), NDUFAF3(25915), BCOR(54880), DKC1(1736), L2HGDH(79944), FOXL2(668), LBR(3930), MKS1(54903), RECQL4(9401), JAG1(182), GJB6(10804), WHCR(7467), CD96(10225), WHSC1(7468), ATM(472), ERCC8(1161), HSPD1(3329), CEP290(80184), MUSK(4593), MED12(9968), PTPN11(5781), TRIM37(4591), DHCR7(1717), DGCR(1714), L1CAM(3897), CYB5R3(1727), PITX2(5308), ALG3(10195), BEST1(7439), VLDLR(7436), SOST(50964), FANCA(2175), KRAS(3845), TFAP2B(7021), TFAP2A(7020), EFNB1(1947), GBA(2629)]
STRAIGHT AND SHORT CLAVICLES(HP:0005902)	[HOXD13(3239)]
STREAK OVARY(HP:0010464)	[DHH(50846)]
STREAKS OF HYPERKERATOSIS ALONG EACH FINGER ONTO THE PALM(HP:0007501)	[DSG1(1828)]
STRIAE DISTENSAE(HP:0001065)	[FBN1(2200), PDE11A(50940), CUL4B(8450), PRKAR1A(5573), AIP(9049)]
STRIDOR(HP:0010307)	[IGHMBP2(3508), D2HGDH(728294)]
STROKE(HP:0001297)	[SMARCAL1(50485), SCN5A(6331), GLA(2717), LGI1(9211), WFS1(7466), ATP1A2(477), ABCC6(368), SCN2A(6326), FLNA(2316), VHL(7428), CACNA1A(773), TTR(7276), MTHFR(4524), ENG(2022), PMM2(5373), CBS(875), ACVRL1(94), CHRNA4(1137)]
STROKE-LIKE EPISODES(HP:0002401)	[WFS1(7466), TTR(7276), PMM2(5373)]
STRUCTURAL ABNORMALITIES IN THE BASAL GANGLIA(HP:0006952)	[PDHA1(5160), GFM1(85476), FOXP2(93986), CPT2(1376)]
STRUCTURAL ANOMALIES OF THE RENAL TRACT(HP:0004735)	[NIPBL(25836)]
SUBACUTE DETERIORATION OF VISUAL ACUITY(HP:0007652)	[MFN2(9927)]
SUBACUTE PROGRESSIVE VIRAL HEPATITIS(HP:0006572)	[MET(4233), PIK3CA(5290), CASP8(841), TP53(7157), CTNNB1(1499), AXIN1(8312), PDGFRL(5157)]
SUBAORTIC STENOSIS(HP:0001682)	[PTPN11(5781), SLC25A4(291), MYH7(4625), CAV3(859), MYLK2(85366)]
SUBARACHNOID HEMORRHAGE(HP:0002138)	[DOCK8(81704), ENG(2022), SMAD4(4089), ACVRL1(94)]
SUBCAPSULAR CATARACTS(HP:0000523)	[ABHD5(51099), CNBP(7555), ALMS1(7840), FZD4(8322), LRP5(4041), NF2(4771), OAT(4942)]
SUBCLINICAL ABNORMAL LIVER FUNCTION TESTS(HP:0006578)	[HNF1B(6928)]
SUBCLINICAL DEFECT IN PANCREATIC EXOCRINE FUNCTION(HP:0004509)	[HNF1B(6928)]
SUBCORTICAL DEMENTIA, PROGRESSIVE(HP:0007123)	[NOTCH3(4854)]
SUBCORTICAL WHITE MATTER CALCIFICATIONS(HP:0007346)	[ERCC6(2074)]
SUBCUTANEOUS CALCIFICATION(HP:0007618)	[WRN(7486)]
SUBCUTANEOUS HEMORRHAGE(HP:0001933)	[GP1BA(2811), PLOD1(5351), P2RY12(64805), TBXAS1(6916), GP9(2815), GP1BB(2812), GGCX(2677), SERPINF2(5345), GATA1(2623), HPS5(11234), COL5A2(1290), ITGB3(3690), PDE11A(50940), TTR(7276), COL5A1(1289), BLOC1S3(388552), HOXA11(3207), NME1(4830), TREX1(11277), MYH9(4627), FANCD2(2177), FANCC(2176), COL3A1(1281), FANCE(2178), DTNBP1(84062), ITGA2B(3674), PTGS1(5742), HPS3(84343), F11(2160), AIP(9049), FANCA(2175), HPS1(3257), RUNX1(861), VWF(7450), PRKAR1A(5573), WAS(7454), GBA(2629), HPS4(89781), COL1A2(1278), ETHE1(23474), F8(2157), COL1A1(1277), MASTL(84930), HPS6(79803), ATP7A(538), ADAMTS2(9509)]
SUBCUTANEOUS LIPOMAS(HP:0001031)	[PTEN(5728), MEN1(4221)]
SUBCUTANEOUS NODULES(HP:0001482)	[ASAH1(427), MMP2(4313), OCRL(4952), TSC1(7248), TSC2(7249)]
SUBEPENDYMAL CYSTS(HP:0002416)	[PEX19(5824), PEX10(5192), PEX14(5195), PEX5(5830), PEX13(5194), PEX1(5189), D2HGDH(728294), PDHX(8050), PEX3(8504), PEX26(55670)]
SUBEPENDYMAL NODULES(HP:0009716)	[TSC1(7248), TSC2(7249)]
SUBGLOTTIC STENOSIS(HP:0001607)	[FRAS1(80144), TBX3(6926), FREM2(341640)]
SUBMUCOUS CLEFT LIP(HP:0009101)	[GPC3(2719)]
SUBMUCOUS CLEFT LIP/PALATE(HP:0000208)	[MAP2K1(5604), MAP2K2(5605), GPC3(2719), HYAL1(3373), SIX3(6496), BCOR(54880), ZEB2(9839), KRAS(3845), BRAF(673), ZMPSTE24(10269)]
SUBMUCOUS CLEFT PALATE(HP:0000176)	[MAP2K1(5604), MAP2K2(5605), HYAL1(3373), SIX3(6496), BCOR(54880), ZEB2(9839), KRAS(3845), BRAF(673), ZMPSTE24(10269)]
SUBNORMAL VISUAL ACUITY(HP:0007860)	[PAX6(5080), MFN2(9927), LAMP2(3920)]
SUBPERIOSTEAL EROSIONS DUE TO SECONDARY HYPERPARATHYROIDISM(HP:0003106)	[CYP27B1(1594), VDR(7421)]
SUBRETINAL AND INTRARETINAL EXUDATES(HP:0007989)	[NDP(4693)]
SUBUNGUAL FIBROMATA(HP:0009724)	[TSC1(7248), TSC2(7249)]
SUBUNGUAL HYPERKERATOTIC FRAGMENTS(HP:0008410)	[ATP2A2(488)]
SUDANOPHILIC LEUKODYSTROPHY(HP:0003269)	[PLP1(5354)]
SUDDEN CARDIAC DEATH(HP:0001645)	[SCN5A(6331), PKP2(5318), ACADL(33), LMNA(4000), ACADVL(37), GNAI2(2771), ANK2(287), TGFB3(7043), DNAJC19(131118), DSP(1832), KCNE2(9992), CSRP3(8048), KCNQ1(3784), DSG2(1829), KCNH2(3757), DSC2(1824), KCNE1(3753)]
SUDDEN DEATH(HP:0001699)	[SCN5A(6331), CACNA1C(775), SLC25A4(291), JUP(3728), HRAS(3265), MYH7(4625), TTN(7273), SOST(50964), EMD(2010), CAV3(859), HADHA(3030), MYLK2(85366)]
SUDDEN EPISODIC APNEA, SEVERE, MAY CAUSE DEATH(HP:0002882)	[CHAT(1103)]
SULFITE OXIDASE DEFICIENCY(HP:0003643)	[GPHN(10243), SUOX(6821), MOCS2(4338), MOCS1(4337)]
SUPERFICIAL CORNEAL OPACITIES(HP:0007727)	[ALDH3A2(224)]
SUPERFICIAL THROMBOPHLEBITIS(HP:0002638)	[PROC(5624), PROS1(5627)]
SUPERNUMERARY BONES OF THE AXIAL SKELETON(HP:0009144)	[FBN1(2200), IKBKG(8517), GPC3(2719), SOX2(6657), PTCH1(5727), NIPBL(25836), PAX3(5077)]
SUPERNUMERARY MAXILLARY INCISORS(HP:0006332)	[NHS(4810)]
SUPERNUMERARY METACARPAL BONES(HP:0005917)	[HOXD13(3239), LMBR1(64327)]
SUPERNUMERARY NIPPLES(HP:0002558)	[IKBKG(8517), CD96(10225), GPC3(2719), ZEB2(9839), TP63(8626), PORCN(64840), PTEN(5728), TFAP2A(7020)]
SUPERNUMERARY RIBS(HP:0005815)	[FBN1(2200), IKBKG(8517), SOX2(6657), PTCH1(5727), NIPBL(25836), PAX3(5077)]
SUPERNUMERARY SPLEENS(HP:0009799)	[MYCN(4613), MKS1(54903), ESCO2(157570), WHCR(7467), GPC3(2719), WHSC1(7468), NPHP3(27031), RAB23(51715), HYLS1(219844)]
SUPERNUMERARY TEETH(HP:0000672)	[TRPS1(7227), APC(324), OFD1(8481), GJA1(2697), INSR(3643), BCOR(54880), RECQL4(9401), RUNX2(860)]
SUPERNUMERARY VERTEBRAE(HP:0002946)	[GPC3(2719), PAX3(5077)]
SUPRAAURICULAR SINUSES(HP:0008606)	[TFAP2A(7020)]
SUPRANUCLEAR GAZE PALSY(HP:0000605)	[PRNP(5621), GBA(2629), MAPT(4137), ATP13A2(23400)]
SUPRANUCLEAR GAZE PALSY, HORIZONTAL(HP:0007817)	[GBA(2629)]
SUPRANUCLEAR OPHTHALMOPLEGIA(HP:0000623)	[ATXN7(6314), ATXN3(4287), GBA(2629), ATXN1(6310)]
SUPRAVALVULAR AORTIC STENOSIS(HP:0004381)	[ELN(2006), FBLN5(10516), EFEMP2(30008), LOX(4015)]
SUPRAVENTRICULAR ARRHYTHMIA(HP:0005115)	[SCN5A(6331), MYBPC3(4607), DMPK(1760), GJA5(2702), LMNA(4000), EMD(2010), NPPA(4878), KCNQ1(3784), HCN4(10021), ANK2(287), PRKAG2(51422)]
SUPRAVENTRICULAR TACHYARRHYTHMIAS(HP:0004755)	[SCN5A(6331), PRKAG2(51422)]
SURAL NERVE BIOPSY SHOWS CHRONIC AXONAL NEUROPATHY(HP:0003446)	[HSPB1(3315), SETX(23064)]
SURAL NERVE BIOPSY SHOWS EXCESSIVE FOCAL FOLDING OF MYELIN SHEATHS(HP:0007290)	[SOX10(6663)]
SURAL NERVE BIOPSY SHOWS HYPOMYELINATION/DEMYELINATION(HP:0007160)	[SOX10(6663)]
SURAL NERVE BIOPSY SHOWS LOSS OF LARGE MYELINATED FIBERS(HP:0006868)	[SETX(23064)]
SURAL NERVE BIOPSY SHOWS SEVERE LOSS OF MYELINATED FIBERS(HP:0007093)	[WNK1(65125)]
SUSCEPTIBILITY TO CHICKENPOX(HP:0005360)	[RMRP(6023)]
SUSCEPTIBILITY TO INFECTION(HP:0002964)	[DGCR(1714), RAG2(5897), RAG1(5896), TBX1(6899), SLC46A1(113235), UMPS(7372), BTK(695), MC2R(4158)]
SUSCEPTIBILITY TO PYOGENIC INFECTION(HP:0005367)	[C3(718)]
SUTURAL CATARACT(HP:0010695)	[NHS(4810)]
SWAN NECK-LIKE DEFORMITIES OF THE FINGERS(HP:0006150)	[SACS(26278)]
SWELLING OF PROXIMAL INTERPHALANGEAL JOINTS(HP:0006253)	[TRPS1(7227)]
SYMMETRIC PROXIMAL MUSCULAR ATROPHY(HP:0008980)	[CAPN3(825)]
SYMMETRICAL PROGRESSIVE DEMYELINATION(HP:0006873)	[GCDH(2639)]
SYMMETRICAL, OVAL PARIETAL BONE DEFECTS(HP:0002695)	[ALX4(60529), MSX2(4488)]
SYMPHALANGISM AFFECTING THE DISTAL PHALANGES OF THE HAND(HP:0009841)	[TFAP2B(7021)]
SYMPHALANGISM AFFECTING THE DISTAL PHALANX OF THE 5TH FINGER(HP:0009244)	[TFAP2B(7021)]
SYMPHALANGISM AFFECTING THE MIDDLE PHALANGES OF THE HAND(HP:0009849)	[TFAP2B(7021)]
SYMPHALANGISM AFFECTING THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0009178)	[TFAP2B(7021)]
SYMPHALANGISM AFFECTING THE PHALANGES OF THE HAND(HP:0009773)	[NOG(9241), CHST3(9469), GDF5(8200), IHH(3549), TFAP2B(7021), H19(283120), PQBP1(10084)]
SYMPHALANGISM OF THE 5TH FINGER(HP:0004218)	[CHST3(9469), TFAP2B(7021), H19(283120), PQBP1(10084)]
SYMPHALANGISM OF THE DISTAL AND MIDDLE PHALANGES OF THE 5TH FINGER(HP:0009176)	[TFAP2B(7021)]
SYNCOPE(HP:0001279)	[SCN5A(6331), PKP2(5318), KCNE2(9992), JUP(3728), KCNJ2(3759), KCNQ1(3784), KCNH2(3757), DSC2(1824), ANK2(287), KCNE1(3753)]
SYNDACTYLY(HP:0001159)	[MYCN(4613), EP300(2033), TWIST1(7291), BBS5(129880), TBX15(6913), TRIM32(22954), FBLN1(2192), SALL4(57167), ARL6(84100), CCBE1(147372), LMBR1(64327), FLNA(2316), GLI3(2737), ESCO2(157570), NOG(9241), MYH8(4626), GNE(10020), BBS9(27241), SC5DL(6309), BMP4(652), SALL1(6299), GPC3(2719), BCOR(54880), IRF6(3664), B3GALTL(145173), ROR2(4920), BLM(641), MKS1(54903), CACNA1C(775), MIPOL1(145282), GJA1(2697), CHRNG(1146), CREBBP(1387), RAB23(51715), MKKS(8195), SNRPN(6638), CD96(10225), FGFR1(2260), FGFR3(2261), FGFR2(2263), CEP290(80184), BBS12(166379), PAX3(5077), CDH3(1001), MED12(9968), FGF10(2255), DHCR7(1717), NDN(4692), HOXA11(3207), KCNJ2(3759), FGD1(2245), FREM2(341640), WNT7A(7476), TTC8(123016), FRAS1(80144), CLCF1(23529), BBS1(582), SOST(50964), BBS2(583), TP63(8626), BBS4(585), PORCN(64840), TF(7018), NIPBL(25836), EFNB1(1947), BBS10(79738), OFD1(8481), HOXD13(3239), BBS7(55212), PVRL1(5818)]
SYNGNATHIA(HP:0009754)	[IRF6(3664)]
SYNOPHRYS(HP:0000664)	[SGSH(6448), HGSNAT(138050), ARX(170302), EHMT1(79813), GNS(2799), MITF(4286), FGFR1(2260), GNE(10020), KIAA1279(26128), NAGLU(4669), NIPBL(25836), PAX3(5077)]
SYNOSTOSIS INVOLVING BONES OF THE FEET(HP:0009140)	[SALL1(6299), NOG(9241), FGFR1(2260), POR(5447), FBLN1(2192), GDF5(8200), FGFR2(2263), BMPR1B(658), FLNA(2316)]
SYNOSTOSIS INVOLVING BONES OF THE FINGERS(HP:0009700)	[NOG(9241), CHST3(9469), GDF5(8200), IHH(3549), TFAP2B(7021), H19(283120), PQBP1(10084)]
SYNOSTOSIS INVOLVING BONES OF THE HAND(HP:0004278)	[SALL4(57167), FBLN1(2192), FGFR3(2261), EVC2(132884), GDF5(8200), FGFR2(2263), TFAP2B(7021), H19(283120), PAX3(5077), FLNA(2316), GLI3(2737), FLNB(2317), NOG(9241), HOXD13(3239), POR(5447), CHST3(9469), RECQL4(9401), IHH(3549), EVC(2121), PQBP1(10084), BMPR1B(658), ATP7A(538)]
SYNOSTOSIS INVOLVING METATARSAL BONES(HP:0001440)	[SALL1(6299), FBLN1(2192)]
SYNOSTOSIS INVOLVING TARSAL BONES(HP:0008368)	[NOG(9241), FGFR1(2260), POR(5447), GDF5(8200), FGFR2(2263), BMPR1B(658), FLNA(2316)]
SYNOSTOSIS INVOLVING THE CARPAL BONES(HP:0009702)	[SALL4(57167), EVC2(132884), FGFR3(2261), GDF5(8200), FGFR2(2263), PAX3(5077), FLNA(2316), FLNB(2317), NOG(9241), POR(5447), RECQL4(9401), EVC(2121), BMPR1B(658), ATP7A(538)]
SYNOSTOSIS INVOLVING THE ELBOW(HP:0003938)	[NOG(9241), WNT7A(7476)]
SYNOSTOSIS INVOLVING THE METACARPAL BONES(HP:0009701)	[NOG(9241), HOXD13(3239), FBLN1(2192), GDF5(8200), GLI3(2737)]
SYNOVIAL HYPERTROPHY(HP:0005186)	[PRG4(10216)]
SYRINGOMYELIA(HP:0003396)	[ABCA1(19), DDR2(4921), RUNX2(860)]
SYSTEMIC LUPUS ERYTHEMATOSUS(HP:0002725)	[C8A(731), C2(717), C4A(720), PEPD(5184), SERPING1(710), C5(727)]
SYSTOLIC HYPERTENSION, MILD(HP:0004956)	[AVPR2(554)]
T-CELL ACUTE LYMPHOBLASTIC LEUKEMIAS(HP:0006727)	[TLX1(3195)]
T-CELL CHRONIC LYMPHOCYTIC LYMPHOMA/LEUKEMIA(HP:0005539)	[TCL1A(8115)]
T-CELL LYMPHOMA/LEUKEMIA(HP:0005517)	[TCL1A(8115), TAL1(6886), TRA@(6955)]
T-WAVE ABNORMALITIES(HP:0005135)	[MECP2(4204)]
TACHYCARDIA(HP:0001649)	[CNBP(7555), RET(5979), FBP1(2203), SCN9A(6335), CPOX(1371), KIF1B(23095), PPOX(5498), SDHD(6392), SDHC(6391), TSHR(7253), SDHB(6390), VHL(7428), THRB(7068), GJA5(2702), HMBS(3145), CSRP3(8048), KCNQ1(3784), FMO3(2328)]
TACHYCARDIA (WITH PHEOCHROMOCYTOMA)(HP:0001673)	[SDHD(6392), SDHC(6391)]
TACHYPNEA(HP:0002789)	[PCCB(5096), BTD(686), IGHMBP2(3508), TMEM216(51259), AHI1(54806), ACADVL(37), HLCS(3141), INPP5E(56623), CEP290(80184), CASR(846), PCCA(5095)]
TACHYPNEA, EPISODIC(HP:0002876)	[TMEM216(51259), AHI1(54806), INPP5E(56623), CEP290(80184)]
TALIPES(HP:0001883)	[PEX19(5824), FBN1(2200), ABCD3(5825), PLOD1(5351), FBN2(2201), ATRX(546), PEX2(5828), BBS5(129880), PEX5(5830), TRIM32(22954), TBX15(6913), ATR(545), MYH3(4621), ARL6(84100), CCBE1(147372), TGFBR1(7046), NSD1(64324), GAN(8139), HSD17B4(3295), FLNA(2316), PLOD2(5352), FLNB(2317), ESCO2(157570), SOX9(6662), HRAS(3265), MYH8(4626), GNPTAB(79158), BBS9(27241), SC5DL(6309), PLEKHG5(57449), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), IRF6(3664), MTMR2(8898), FGD4(121512), MKS1(54903), RAB3GAP2(25782), CHRNG(1146), RECQL4(9401), BMPR1B(658), CTDP1(9150), HSPG2(3339), MKKS(8195), WHCR(7467), FBXO7(25793), WHSC1(7468), RAPSN(5913), NDRG1(10397), FGFR1(2260), EVC2(132884), GDF5(8200), CEP290(80184), BBS12(166379), LMX1B(4010), DHCR24(1718), SLC26A2(1836), COL6A1(1291), L1CAM(3897), COL6A2(1292), COL6A3(1293), PITX1(5307), FGD1(2245), GDAP1(54332), COL2A1(1280), COL3A1(1281), WNT7A(7476), EVC(2121), PEX26(55670), TTC8(123016), ALG3(10195), BBS1(582), BBS2(583), TNNI2(7136), CHST14(113189), BBS4(585), PEX3(8504), HYLS1(219844), TNNT3(7140), DES(1674), EBP(10682), BBS10(79738), KDM5C(8242), OFD1(8481), IGHMBP2(3508), FAM123B(139285), BBS7(55212), DOK7(285489), TPM2(7169), CHST3(9469), PMP22(5376), SMS(6611)]
TALIPES CALCANEOVALGUS(HP:0001884)	[ATRX(546), CHRNG(1146), PMP22(5376)]
TALIPES CALCANEOVARUS(HP:0008124)	[KDM5C(8242)]
TALIPES CAVUS EQUINOVARUS(HP:0004696)	[NDRG1(10397)]
TALIPES EQUINOVALGUS(HP:0001772)	[MKKS(8195), GPC3(2719), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), FGFR1(2260), ARL6(84100), BBS4(585), GDF5(8200), CEP290(80184), BBS12(166379), FLNB(2317), ESCO2(157570), MKS1(54903), BBS10(79738), BBS7(55212), FGD1(2245), BBS9(27241), TTC8(123016)]
TALIPES EQUINOVARUS(HP:0001762)	[PEX19(5824), FBN1(2200), ABCD3(5825), FBN2(2201), PLOD1(5351), ATRX(546), PEX2(5828), PEX5(5830), TBX15(6913), CCBE1(147372), TGFBR1(7046), MYH3(4621), NSD1(64324), GAN(8139), HSD17B4(3295), FLNA(2316), PLOD2(5352), FLNB(2317), SOX9(6662), HRAS(3265), MYH8(4626), GNPTAB(79158), SC5DL(6309), PLEKHG5(57449), GPC3(2719), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), IRF6(3664), MTMR2(8898), FGD4(121512), RAB3GAP2(25782), CHRNG(1146), RECQL4(9401), BMPR1B(658), CTDP1(9150), HSPG2(3339), WHCR(7467), FBXO7(25793), WHSC1(7468), RAPSN(5913), NDRG1(10397), EVC2(132884), GDF5(8200), LMX1B(4010), SLC26A2(1836), DHCR24(1718), COL6A1(1291), L1CAM(3897), COL6A2(1292), COL6A3(1293), PITX1(5307), COL2A1(1280), GDAP1(54332), COL3A1(1281), WNT7A(7476), EVC(2121), PEX26(55670), ALG3(10195), TNNI2(7136), CHST14(113189), PEX3(8504), HYLS1(219844), TNNT3(7140), DES(1674), EBP(10682), OFD1(8481), IGHMBP2(3508), FAM123B(139285), DOK7(285489), TPM2(7169), CHST3(9469), SMS(6611)]
TAPERED DISTAL PHALANGES OF THE HAND(HP:0009884)	[DSP(1832), CTSC(1075)]
TAPERED FINGERS(HP:0001182)	[CD96(10225), OFD1(8481), VPS13B(157680), PHF6(84295), ATRX(546), ARX(170302), RPS6KA3(6197), CRLF1(9244), SLC12A6(9990), KIAA1279(26128), CPT2(1376), GLI3(2737)]
TAPERED, POINTED DISTAL PHALANGES(HP:0006224)	[CTSC(1075)]
TAPETORETINAL DEGENERATION(HP:0000547)	[ACOX1(51), CLDN19(149461), MKKS(8195), NPHP1(4867), CEP290(80184)]
TARSAL OSTEOLYSIS(HP:0001858)	[MMP2(4313)]
TARSONAVICULAR AND CALCANEONAVICULAR FUSION(HP:0008122)	[FGFR1(2260), FGFR2(2263)]
TAURODONTIA(HP:0000679)	[EDA(1896), DLX3(1747), GJA1(2697), KL(9365), GALNT3(2591), FGF23(8074)]
TELANGIECTASES (STOMACH, DUODENUM, SMALL BOWEL, COLON)(HP:0002604)	[ENG(2022), ACVRL1(94)]
TELANGIECTASES IN SUN-EXPOSED AND NONEXPOSED SKIN(HP:0007561)	[FERMT1(55612)]
TELANGIECTASES OF PALMS AND SOLES(HP:0007399)	[SOX18(54345)]
TELANGIECTASES OF THE CHEEKS(HP:0007421)	[SLC2A10(81031)]
TELANGIECTASIA(HP:0001009)	[DDB2(1643), SLC2A10(81031), ERCC2(2068), ATM(472), SETX(23064), SOX18(54345), PORCN(64840), ERCC6(2074), BLM(641), PEPD(5184), DPM1(8813), POLH(5429), FERMT1(55612), GJA1(2697), ENG(2022), CTSA(5476), RECQL4(9401), SMAD4(4089), NAGA(4668), XPC(7508), ACVRL1(94), XPA(7507), HFE(3077)]
TELANGIECTASIA ON LIPS AND ORAL MUCOSA(HP:0007428)	[ENG(2022), NAGA(4668), ACVRL1(94)]
TELEANGIECTASES IN ORAL CAVITY(HP:0000228)	[ENG(2022), NAGA(4668), ACVRL1(94)]
TELECANTHUS(HP:0000506)	[FBN1(2200), RAPSN(5913), RPS6KA3(6197), MYH3(4621), FGFR3(2261), CHST14(113189), EFNB1(1947), TFAP2A(7020), ETFDH(2110), PAX3(5077), ETFB(2109), ETFA(2108), FOXL2(668), FGF10(2255), MID1(4281), OFD1(8481), GJA1(2697), DOK7(285489), KIAA1279(26128)]
TEMPERATURE INSTABILITY(HP:0005968)	[DDC(1644)]
TEMPORAL HYPOTRICHOSIS(HP:0004524)	[KRT85(3891)]
TENDENCY TO CHROMOSOMAL BREAKAGE(HP:0003220)	[POLA1(5422), FANCD2(2177), FANCA(2175), FANCC(2176), FANCE(2178), BLM(641)]
TERATOMA(HP:0009792)	[MNX1(3110)]
TESTICULAR AND OVARIAN TISSUE PRESENT(HP:0003242)	[WT1(7490)]
TESTICULAR ATROPHY(HP:0000029)	[HPRT1(3251), DMPK(1760), WFS1(7466), KAL1(3730), AR(367), POLG(5428), HFE(3077)]
TESTICULAR DYSGENESIS(HP:0008715)	[TSPYL1(7259)]
TETANY(HP:0001281)	[TBCE(6905), DGCR(1714), CLDN16(10686), SLC12A3(6559), SLC12A1(6557), TBX1(6899), KCNJ1(3758), TRPM6(140803)]
TETHERED CORD(HP:0002144)	[HOXD13(3239), MNX1(3110)]
TETRAAMELIA(HP:0003057)	[WNT3(7473)]
TETRALOGY OF FALLOT(HP:0001636)	[FOXC2(2303), SALL1(6299), HIBCH(26275), TBX1(6899), STRA6(64220), SEMA3E(9723), ZFPM2(23414), ALX3(257), GDF1(2657), DGCR(1714), HOXD13(3239), RAB23(51715), JAG1(182), NKX2-5(1482), PQBP1(10084), CHD7(55636)]
TETRAPARESIS(HP:0002273)	[SQSTM1(8878), GJA1(2697), PNP(4860), COL4A1(1282), TNFRSF11A(8792)]
TETRAPLEGIA(HP:0002445)	[ARSA(410), ATP1A2(477)]
THALASSEMIA(HP:0005560)	[HBA1(3039)]
THENAR HYPOPLASIA(HP:0001245)	[FGF10(2255), HOXA13(3209), SALL4(57167), FGFR3(2261)]
THENAR MUSCLE ATROPHY(HP:0003393)	[BSCL2(26580), GARS(2617)]
THENAR MUSCLE WEAKNESS(HP:0003427)	[BSCL2(26580), GARS(2617)]
THICK AND ELONGATED SUPERIOR CEREBELLAR PEDUNCLES(HP:0002404)	[TMEM67(91147), NPHP1(4867), TMEM216(51259), AHI1(54806), INPP5E(56623), CEP290(80184)]
THICK ANTERIOR ALVEOLAR RIDGES(HP:0009100)	[CD96(10225)]
THICK CEREBRAL CORTEX(HP:0006891)	[FKRP(79147), FKTN(2218), LARGE(9215), POMT1(10585), RELN(5649), POMT2(29954)]
THICK CORPUS CALLOSUM(HP:0007074)	[PTEN(5728)]
THICK EYEBROWS(HP:0000574)	[RET(5979), EP300(2033), SLC9A6(10479), VPS13B(157680), BCOR(54880), CREBBP(1387), FUCA1(2517), MAN2B1(4125), NIPBL(25836)]
THICK NASAL SEPTUM(HP:0009746)	[RPS6KA3(6197)]
THICK SKULL BASE(HP:0002737)	[PTH1R(5745), FLNA(2316)]
THICK, ARCHED EYEBROWS(HP:0004533)	[TFAP2B(7021)]
THICK, EVERTED LOWER LIP(HP:0009086)	[RPS6KA3(6197)]
THICKENED ACHILLES TENDON(HP:0004690)	[HGD(3081)]
THICKENED CALVARIA(HP:0002684)	[GNAS(2778), AGA(175), TNFRSF11B(4982), RPS6KA3(6197), ERCC8(1161), LRP5(4041), ERCC6(2074), COL11A1(1301), RUNX2(860), CSF3R(1441), PHF6(84295), SLC17A5(26503), DYM(54808), GNPTAB(79158), MAN2B1(4125)]
THICKENED CORTEX OF LONG BONES(HP:0000935)	[SOST(50964), LRP5(4041), LIFR(3977), TGFB1(7040)]
THICKENED HELICES(HP:0000391)	[ADAMTSL2(9719)]
THICKENED NAILS(HP:0001805)	[KRT5(3852), TP63(8626)]
THICKENED RIBS(HP:0000900)	[SGSH(6448), HGSNAT(138050), GNS(2799), NAGLU(4669)]
THICKENED SKIN(HP:0001072)	[ADAMTSL2(9719), MMP2(4313), ANTXR2(118429)]
THICKENING OF THE GLOMERULAR BASEMENT MEMBRANE ON RENAL BIOPSY(HP:0004722)	[CFH(3075)]
THICKENING OF THE LATERAL BORDER OF THE SCAPULA(HP:0006650)	[LMX1B(4010)]
THIGH HYPERTROPHY(HP:0003733)	[FKRP(79147)]
THIN ANTEVERTED NARES(HP:0004495)	[GJA1(2697)]
THIN BONY CORTEX(HP:0002753)	[FBN1(2200), CLCN5(1184), CYP27B1(1594), ADAMTS10(81794), SLC34A3(142680), VDR(7421), CYP2R1(120227)]
THIN CORPUS CALLOSUM(HP:0002319)	[SPG11(80208), MAPK10(5602), TREM2(54209), TYROBP(7305)]
THIN DENTAL ENAMEL(HP:0003770)	[KL(9365), GALNT3(2591), FGF23(8074)]
THIN EYEBROWS(HP:0002554)	[TRPS1(7227), GNPTAB(79158)]
THIN HAIR(HP:0002237)	[IKBKG(8517), TRPS1(7227), SLC7A7(9056), GJA1(2697), NSD1(64324), WNT10A(80326), MSX1(4487)]
THIN LIPS(HP:0000213)	[TRPS1(7227), SNRPN(6638), ATIC(471), LMBRD1(55788), GLI3(2737), MED12(9968), NOG(9241), MID1(4281), NDN(4692), KCNJ2(3759), IGF1R(3480), PMM2(5373), GNE(10020), COL3A1(1281), PAK3(5063), PITX2(5308), SC5DL(6309), TBCE(6905), OPHN1(4983), SEC23A(10484), NIPBL(25836), OFD1(8481), KDM5C(8242), GJA1(2697), AP3B1(8546), MGAT2(4247)]
THIN LONG BONES(HP:0003100)	[TBCE(6905)]
THIN METACARPAL CORTICES(HP:0006086)	[MMP2(4313)]
THIN METATARSAL CORTICES(HP:0008078)	[MMP2(4313)]
THIN MYELIN SHEATHS(HP:0003408)	[SBF2(81846)]
THIN NAILS(HP:0001816)	[TRPS1(7227), HRAS(3265), NSD1(64324)]
THIN RIBS(HP:0000883)	[FBN1(2200), CHRNA1(1134), TBCE(6905), SOX9(6662), GJA1(2697), DOK7(285489), CHRNG(1146), RAPSN(5913), CHRND(1144), LIFR(3977), LEPRE1(64175)]
THIN SCALP HAIR(HP:0002556)	[TP63(8626)]
THIN SKIN(HP:0000963)	[EDA(1896), PLOD1(5351), PDE11A(50940), PRKAR1A(5573), TP63(8626), AIP(9049), COL1A2(1278), SOX18(54345), COL1A1(1277), LIFR(3977)]
THIN UPPER LIP(HP:0000219)	[TRPS1(7227), SNRPN(6638), OPHN1(4983), SEC23A(10484), ATIC(471), LMBRD1(55788), NIPBL(25836), MED12(9968), NOG(9241), MID1(4281), KDM5C(8242), OFD1(8481), NDN(4692), AP3B1(8546), KCNJ2(3759), GNE(10020), PMM2(5373), IGF1R(3480), PAK3(5063), PITX2(5308)]
THIN VERMILLION BORDER(HP:0000233)	[NOG(9241), AGL(178), B3GALTL(145173)]
THIN VERMILLION BORDER OF UPPER LIP(HP:0000231)	[NOG(9241)]
THIN, ATROPHIC SCARS(HP:0007567)	[B4GALT7(11285)]
THIN, DEEP-SET NAILS(HP:0001814)	[HRAS(3265), NSD1(64324)]
THIN, DYSPLASTIC BIPARTITE CLAVICLES(HP:0006585)	[ZMPSTE24(10269)]
THIN, GRACILE LONG BONES(HP:0003060)	[GJA1(2697), DOK7(285489), RAPSN(5913), COL1A1(1277), LEPRE1(64175)]
THIN, LONG CLAVICLES(HP:0006645)	[TBCE(6905)]
THIN, LONG, POINTED NOSE(HP:0005283)	[TWIST1(7291), FGFR2(2263)]
THINNING AND BULGING OF THE POSTERIOR FOSSA BONES(HP:0000931)	[ZIC1(7545), ZIC4(84107)]
THORACIC HEMIVERTEBRAE(HP:0008467)	[ROR2(4920)]
THORACIC HYPOPLASIA(HP:0005257)	[SLC26A2(1836), HSPG2(3339), DOK7(285489), GBA(2629), MATN3(4148), RAPSN(5913), GNE(10020), DDR2(4921)]
THORACIC KYPHOSIS(HP:0002942)	[SMARCAL1(50485), GUSB(2990), VPS13B(157680), NPR2(4882), TBX5(6910), RPS6KA3(6197), FGFR3(2261), ALDH3A2(224), FAM123B(139285), MOGS(7841), DYM(54808), COL2A1(1280), GNPTAB(79158), MAN2B1(4125), MGAT2(4247)]
THORACIC PLATYSPONDYLY(HP:0004592)	[FLNB(2317)]
THORACIC SCOLIOSIS(HP:0002943)	[VPS13B(157680), TBX5(6910), MOGS(7841)]
THORACOLUMBAR KYPHOSCOLIOSIS(HP:0003423)	[GNPTAB(79158), MGAT2(4247)]
THORACOLUMBAR KYPHOSIS(HP:0005619)	[GUSB(2990), FAM123B(139285), NPR2(4882), RPS6KA3(6197), FGFR3(2261), COL2A1(1280), MAN2B1(4125), GNPTAB(79158), MGAT2(4247)]
THORACOLUMBAR SCOLIOSIS(HP:0002944)	[CLCF1(23529), ROBO3(64221), COL2A1(1280), ROR2(4920), GNPTAB(79158), MGAT2(4247)]
THROMBASTHENIA(HP:0004807)	[ITGB3(3690), ITGA2B(3674)]
THROMBOCYTOPENIA(HP:0001873)	[TBXAS1(6916), CD40LG(959), MMAA(166785), TINF2(26277), SH2D1A(4068), ATR(545), SALL4(57167), CD36(948), GATA1(2623), ITGB3(3690), FOXP3(50943), SLC7A7(9056), MYH9(4627), TREX1(11277), FANCD2(2177), FANCC(2176), HLCS(3141), FANCE(2178), TCIRG1(10312), ITGA2(3673), GALC(2581), TCN2(6948), LYST(1130), DKC1(1736), PSTPIP1(9051), UROS(7390), C10orf2(56652), LBR(3930), MPL(4352), AP3B1(8546), ADAMTS13(11093), MPV17(4358), TNFSF11(8600), GP1BA(2811), WFS1(7466), GP9(2815), GP1BB(2812), ACAD9(28976), NDRG1(10397), NHP2(55651), MVK(4598), APOE(348), LMBRD1(55788), MUT(4594), PTPN11(5781), DGUOK(1716), HOXA11(3207), SBDS(51119), RAG2(5897), RAG1(5896), CFH(3075), COL4A5(1287), PHGDH(26227), NOP10(55505), SMARCAL1(50485), ADA(100), MMAB(326625), TERC(7012), TERT(7015), DCLRE1C(64421), FANCA(2175), NIPBL(25836), MMACHC(25974), RUNX1(861), PCCB(5096), JAK2(3717), VWF(7450), FCGR2C(9103), WAS(7454), IVD(3712), GBA(2629), PNP(4860), FAS(355), CASP10(843), MASTL(84930), SLC35A1(10559), PCCA(5095)]
THROMBOCYTOPENIA, CONGENITAL(HP:0004869)	[HOXA11(3207)]
THROMBOCYTOPENIA, MILD-MODERATE(HP:0008175)	[MYH9(4627)]
THROMBOCYTOSIS(HP:0001894)	[JAK2(3717), MPL(4352), ELANE(1991), THPO(7066), PMM2(5373)]
THROMBOEMBOLIC STROKE MAY OCCUR(HP:0001727)	[GJA5(2702), KCNQ1(3784)]
THROMBOEMBOLISM(HP:0001907)	[MPI(4351), JAK2(3717), GJA5(2702), KCNQ1(3784), PLAT(5327), CBS(875), HRG(3273), SMAD9(4093), MMACHC(25974), PROS1(5627), BMPR2(659), VHL(7428)]
THROMBOPHLEBITIS(HP:0004418)	[SERPINC1(462), SERPIND1(3053), PROC(5624), PROS1(5627), PDGFRA(5156)]
THROMBOSIS(HP:0001977)	[MPI(4351), JAK2(3717), SMAD9(4093), PROS1(5627), BMPR2(659), VHL(7428)]
THYMIC HORMONE DECREASED(HP:0003357)	[ERCC8(1161)]
THYMUS HYPOPLASIA(HP:0000778)	[ABCD3(5825), PEX2(5828), RAG2(5897), ATM(472), DCLRE1C(64421), RAG1(5896)]
THYROID ADENOMA(HP:0000854)	[CDC73(79577), PTEN(5728)]
THYROID CARCINOMA(HP:0002890)	[RET(5979), TRIM24(8805), NTRK1(4914), MINPP1(9562), PTEN(5728), NRAS(4893), PCM1(5108), TRIM33(51592), APC(324), PRKAR1A(5573), CCDC6(8030), NCOA4(8031), GOLGA5(9950), JAG1(182), SLC26A4(5172)]
THYROID DEFECT IN OXIDATION AND ORGANIFICATION OF IODIDE(HP:0008263)	[TPO(7173)]
THYROID DYSPLASIA/APLASIA(HP:0008188)	[GLI3(2737)]
THYROID FOLLICULAR HYPERPLASIA(HP:0008225)	[PRKAR1A(5573)]
THYROID HORMONE RECEPTOR DEFECT(HP:0002930)	[THRB(7068)]
THYROID HORMONE RESISTANCE(HP:0008262)	[THRB(7068)]
THYROID HYPERPLASIA(HP:0008249)	[PRKAR1A(5573), TSHR(7253)]
THYROID LYMPHANGIECTASIA(HP:0008229)	[CCBE1(147372)]
TIBIAL BOWING(HP:0002982)	[SOX9(6662), COL1A1(1277), MMP13(4322), FLNA(2316), LEPRE1(64175), FLNB(2317)]
TIBIAL PSEUDOARTHROSIS(HP:0009736)	[NF1(4763)]
TIGHT ACHILLES TENDON(HP:0006430)	[HRAS(3265)]
TINNITUS(HP:0000360)	[CACNA1A(773), MFN2(9927), DSPP(1834), SDHD(6392), SDHC(6391), SDHB(6390), NF2(4771), SDHAF2(54949)]
TISSUE BIOPSY SHOWS GRANULOMAS(HP:0002955)	[NCF2(4688), NCF1(653361), CYBA(1535), CYBB(1536)]
TOE CONTRACTURES(HP:0001860)	[HSPG2(3339), MYH3(4621)]
TOE SYNDACTYLY(HP:0001770)	[MYCN(4613), CD96(10225), TWIST1(7291), TBX15(6913), FBLN1(2192), FGFR1(2260), LMBR1(64327), FGFR2(2263), FLNA(2316), GLI3(2737), NOG(9241), DHCR7(1717), MYH8(4626), KCNJ2(3759), GNE(10020), WNT7A(7476), SC5DL(6309), BMP4(652), SALL1(6299), BCOR(54880), TP63(8626), PORCN(64840), EFNB1(1947), NIPBL(25836), HOXD13(3239), GJA1(2697), RAB23(51715), PVRL1(5818)]
TOMBSTONE-SHAPED PROXIMAL PHALANGES(HP:0006060)	[FLNB(2317)]
TONGUE FASCICULATION/FIBRILLATION(HP:0003727)	[SMN1(6606)]
TONGUE FASCICULATIONS(HP:0001308)	[SH3TC2(79628), SMN1(6606), C20orf54(113278), TSPYL1(7259)]
TONGUE NODULES(HP:0000199)	[OFD1(8481)]
TONGUE TELANGIECTASES(HP:0000227)	[ENG(2022), ACVRL1(94)]
TORSADE DE POINTES(HP:0001664)	[SCN5A(6331), KCNE2(9992), KCNQ1(3784), KCNH2(3757), KCNE1(3753)]
TORSION DYSTONIA(HP:0001304)	[TAF1(6872), THAP1(55145), DYT3(1863), TOR1A(1861)]
TORTICOLLIS(HP:0000473)	[ATP1A3(478), COL6A1(1291), CP(1356), SGCE(8910), COL6A2(1292), COL6A3(1293), DRD2(1813), MAPT(4137), PNKD(25953), THAP1(55145), TOR1A(1861)]
TORTICOLLIS, CONGENITAL(HP:0005988)	[COL6A1(1291), COL6A2(1292), COL6A3(1293)]
TORTUOSITY AND ELONGATION, ALL MAJOR ARTERIES AND AORTA(HP:0006687)	[SLC2A10(81031)]
TORTUOSITY OF CONJUNCTIVAL VESSELS(HP:0000503)	[FUCA1(2517), MANBA(4126)]
TORTUOUS CEREBRAL ARTERIES(HP:0004938)	[APP(351)]
TOTAL ANOMALOUS PULMONARY VENOUS RETURN(HP:0005160)	[DHCR24(1718), CECR(1055)]
TRACHEAL CALCIFICATIONS(HP:0002787)	[EBP(10682), LBR(3930), DDR2(4921)]
TRACHEAL STENOSIS(HP:0002777)	[EBP(10682), SLC26A2(1836), ADAMTSL2(9719), HYLS1(219844), FLNB(2317)]
TRACHEOBRONCHIAL LEIOMYOMATOSIS(HP:0006524)	[COL4A6(1288)]
TRACHEOBRONCHOMALACIA(HP:0002786)	[IDS(3423), SOX9(6662)]
TRACHEOESOPHAGEAL FISTULA(HP:0002575)	[MYCN(4613), HOXD13(3239), SEMA3E(9723), CHD7(55636)]
TRACHEOMALACIA(HP:0002779)	[RAB3GAP2(25782), GJA1(2697), COL2A1(1280), FLNB(2317)]
TRACTIONAL RETINAL DETACHMENT(HP:0007917)	[LRP5(4041)]
TRANSIENT AMINOACIDURIA(HP:0008273)	[ALDOB(229)]
TRANSIENT HYPERLIPIDEMIA(HP:0008279)	[CPT1A(1374)]
TRANSIENT HYPERPHENYLALANINEMIA(HP:0008297)	[PCBD1(5092)]
TRANSIENT ISCHEMIC ATTACK(HP:0002326)	[SMARCAL1(50485), GLA(2717), ENG(2022), ACVRL1(94)]
TRANSIENT NEONATAL DIABETES MELLITUS(HP:0008255)	[ZFP57(346171), TNDM(7952)]
TRANSIENT SWELLING OF MUSCLE INDUCED BY PERCUSSION(HP:0004304)	[CAV3(859)]
TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740)	[EP300(2033), AKT1(207), PTPRJ(5795), FLCN(201163), PIK3CA(5290), FGFR3(2261), KRAS(3845), NRAS(4893), PTEN(5728), PDGFRL(5157), APC(324), BUB1B(701), RB1(5925), MLH3(27030), TP53(7157), AXIN2(8313)]
TRANSPOSITION OF THE GREAT VESSELS(HP:0001669)	[GPC3(2719), RAB23(51715), NODAL(4838)]
TRANSVERSE PALMAR CREASES(HP:0000954)	[PEX19(5824), ABCD3(5825), EP300(2033), WHCR(7467), PEX2(5828), EHMT1(79813), WHSC1(7468), PEX5(5830), ATR(545), RPS6KA3(6197), GATA1(2623), CCBE1(147372), GDF5(8200), B4GALT7(11285), DCR(1637), MED12(9968), NOG(9241), FGD1(2245), UBR1(197131), PEX26(55670), BMP4(652), VPS13B(157680), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX3(8504), B3GALTL(145173), TFAP2A(7020), NIPBL(25836), LIFR(3977), OFD1(8481), CREBBP(1387), TPM2(7169), DPAGT1(1798), CHST3(9469)]
TRANSVERSE VAGINAL SEPTUM(HP:0000145)	[MKKS(8195), TP63(8626)]
TRAPEZOIDAL DISTAL FEMORAL CONDYLES(HP:0006432)	[PHEX(5251)]
TREMOR(HP:0001337)	[TH(7054), PRNP(5621), MMAA(166785), ATXN8(724066), ITPR1(3708), SETX(23064), MAPT(4137), GJC2(57165), ERCC6(2074), DCTN1(1639), ATXN8OS(6315), TTR(7276), LRRK2(120892), FAM126A(84668), ABCB7(22), ATXN2(6311), NIPA1(123606), LRPPRC(10128), LYST(1130), SGCE(8910), PARK7(11315), PTEN(5728), SPTBN2(6712), MPZ(4359), ADAMTS13(11093), JPH3(57338), ATP7B(540), DBH(1621), SPR(6697), TOR1A(1861), UCHL1(7345), FBXO7(25793), WFS1(7466), ERCC8(1161), MECP2(4204), POLG(5428), FGF14(2259), PINK1(65018), CUL4B(8450), PARK2(5071), GSS(2937), SMN1(6606), ITM2B(9445), PPP2R2B(5521), SLC39A4(55630), TBP(6908), ATCAY(85300), DRD2(1813), TNNT1(7138), TIMM8A(1678), MMACHC(25974), PANK2(80025), PNP(4860), APTX(54840), AR(367), PMP22(5376)]
TRIANGULAR EPIPHYSES OF THE 2ND FINGER(HP:0009498)	[GDF5(8200)]
TRIANGULAR EPIPHYSES OF THE 3RD FINGER(HP:0009420)	[GDF5(8200)]
TRIANGULAR EPIPHYSES OF THE MIDDLE PHALANGES OF THE HAND(HP:0010267)	[GDF5(8200)]
TRIANGULAR EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010238)	[GDF5(8200)]
TRIANGULAR EPIPHYSES OF THE PROXIMAL PHALANGES OF THE HAND(HP:0010278)	[GDF5(8200)]
TRIANGULAR EPIPHYSIS OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009523)	[GDF5(8200)]
TRIANGULAR EPIPHYSIS OF THE MIDDLE PHALANX OF THE 3RD FINGER(HP:0009331)	[GDF5(8200)]
TRIANGULAR EPIPHYSIS OF THE PROXIMAL PHALANX OF THE 2ND FINGER(HP:0009534)	[GDF5(8200)]
TRIANGULAR EPIPHYSIS OF THE PROXIMAL PHALANX OF THE 3RD FINGER(HP:0009356)	[GDF5(8200)]
TRIANGULAR FACE WITH AGE(HP:0004645)	[PTPN11(5781)]
TRIANGULAR FACIES(HP:0000325)	[MYCN(4613), MYH3(4621), TNNI2(7136), PRPS1(5631), MVK(4598), TNNT3(7140), H19(283120), PRPS2(5634), PTPN11(5781), TRIM37(4591), GBA(2629), CUL7(9820), KCNJ2(3759), TPM2(7169), KCNJ1(3758), COL1A1(1277), JAG1(182), PVRL1(5818)]
TRIANGULAR MOUTH(HP:0000207)	[BUB1B(701), TFAP2B(7021), ROR2(4920)]
TRIANGULAR NASAL TIP(HP:0000451)	[ATRX(546)]
TRIANGULAR SHAPED DISTAL PHALANGES OF THE HAND(HP:0009875)	[DDR2(4921)]
TRIANGULAR SHAPED MIDDLE PHALANGES OF THE HAND(HP:0009850)	[GDF5(8200), BMPR1B(658)]
TRIANGULAR SHAPED MIDDLE PHALANX OF THE 2ND FINGER(HP:0009575)	[GDF5(8200), BMPR1B(658)]
TRIANGULAR SHAPED MIDDLE PHALANX OF THE 3RD FINGER(HP:0009436)	[GDF5(8200)]
TRIANGULAR SHAPED MIDDLE PHALANX OF THE 5TH FINGER(HP:0009182)	[GDF5(8200), BMPR1B(658)]
TRIANGULAR SHAPED PHALANGES OF THE 2ND FINGER(HP:0009546)	[GDF5(8200), BMPR1B(658)]
TRIANGULAR SHAPED PHALANGES OF THE 3RD FINGER(HP:0009446)	[GDF5(8200)]
TRIANGULAR SHAPED PHALANGES OF THE 5TH FINGER(HP:0009378)	[GDF5(8200), BMPR1B(658)]
TRIANGULAR SHAPED PHALANGES OF THE HAND(HP:0009774)	[GDF5(8200), DDR2(4921), BMPR1B(658), CANT1(124583)]
TRIANGULAR SHAPED PROXIMAL PHALANGES OF THE HAND(HP:0009858)	[GDF5(8200)]
TRIANGULAR SHAPED PROXIMAL PHALANX OF THE 2ND FINGER(HP:0009587)	[GDF5(8200)]
TRIANGULAR SHAPED PROXIMAL PHALANX OF THE 3RD FINGER(HP:0009456)	[GDF5(8200)]
TRICEPS APLASIA(HP:0009785)	[LMX1B(4010)]
TRICHIASIS(HP:0001128)	[GJB2(2706)]
TRICUSPID AND MITRAL VALVES ARE REPLACED BY A SINGLE INLET VALVE(HP:0006695)	[GJA1(2697)]
TRICUSPID VALVE PROLAPSE(HP:0001704)	[FBN1(2200), FLNA(2316)]
TRIDENT ABNORMALITY(HP:0004060)	[FGFR3(2261)]
TRIGONOCEPHALY(HP:0000243)	[CD96(10225), FGFR1(2260), PDHX(8050)]
TRIMETHYLAMINURIA(HP:0003614)	[FMO3(2328)]
TRIPHALANGEAL THUMB(HP:0001199)	[SALL1(6299), FGF10(2255), HOXD13(3239), TBX5(6910), SALL4(57167), FGFR3(2261), LMBR1(64327)]
TRISMUS(HP:0000211)	[GBA(2629), TPM2(7169)]
TRUNCAL ATAXIA(HP:0002078)	[PRNP(5621), SLC9A6(10479), ATXN3(4287), ZIC1(7545), ZIC4(84107), SACS(26278), GPR56(9289), APTX(54840), ABCD1(215), MECP2(4204), KCTD7(154881), FGF14(2259)]
TRUNCAL ATAXIA, PROGRESSIVE(HP:0007221)	[SACS(26278)]
TRUNCAL OBESITY(HP:0001956)	[SNRPN(6638), PDE11A(50940), CUL4B(8450), SLC7A7(9056), PRKAR1A(5573), VPS13B(157680), NDN(4692), PCNT(5116), ALMS1(7840), INPP5E(56623)]
TRUNCAL OBESITY APPARENT IN CHILDHOOD(HP:0008915)	[INPP5E(56623)]
TRUNCAL OBESITY DEVELOPING IN MID-CHILDHOOD(HP:0008874)	[VPS13B(157680)]
TSH DEFICIENT HYPOTHYROIDISM(HP:0008245)	[TSHB(7252)]
TUBULAR ATROPHY(HP:0000092)	[NPHP4(261734), CLCN5(1184), NPHP1(4867), NPHP3(27031)]
TUBULAR BASEMENT MEMBRANE DISINTEGRATION(HP:0005583)	[NPHP1(4867)]
TUBULOINTERSTITIAL ABNORMALITY(HP:0001969)	[NPHP4(261734), CLCN5(1184), PKHD1(5314), CLCNKB(1188), HPS3(84343), HPS5(11234), HPS1(3257), MUT(4594), INVS(27130), NPHP1(4867), BLOC1S3(388552), BSND(7809), HNF1B(6928), HPS4(89781), NPHP3(27031), HPS6(79803), DTNBP1(84062)]
TUBULOINTERSTITIAL MEDULLARY CYSTIC KIDNEY DISEASE(HP:0005582)	[NPHP1(4867)]
TUBULOINTERSTITIAL NEPHRITIS(HP:0001970)	[INVS(27130), MUT(4594)]
TUMOR OF THE SPINAL CORD(HP:0009712)	[CCND1(595), VHL(7428)]
TUMORS OF STRIATED MUSCLE(HP:0009728)	[PAX7(5081), BUB1B(701), SLC22A18(5002), HRAS(3265), FOXO1(2308), NF1(4763), PTCH1(5727), NBN(4683), TSC1(7248), TSC2(7249), PAX3(5077)]
TUMOURS OF THE BREAST(HP:0010623)	[AKT1(207), MSH2(4436), TWIST1(7291), PIK3CA(5290), MLH1(4292), TIMP2(7077), FGFR2(2263), PTEN(5728), KRAS(3845), CDKN2A(1029), CTNNB1(1499), BRIP1(83990), SLC22A18(5002), STK11(6794), RB1CC1(9821), RAD54L(8438), TP53(7157), PPM1D(8493)]
TURRICEPHALY(HP:0000262)	[PEX19(5824), ABCD3(5825), PEX2(5828), TWIST1(7291), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), FGFR1(2260), FGFR2(2263), PEX3(8504), RECQL4(9401), PEX26(55670)]
TWO CARPAL OSSIFICATION CENTERS PRESENT AT BIRTH(HP:0006176)	[GPC3(2719)]
TYMPANIC NERVE TUMORS(HP:0006715)	[SDHD(6392), SDHAF2(54949)]
TYMPANIC NERVE TUMORS (GLOMUS TYMPANICUM)(HP:0002892)	[SDHD(6392), SDHAF2(54949)]
TYPE 1 AND TYPE 2 MUSCLE FIBERS WITH 'MINICORE' REGIONS OF SARCOMERIC DISORGANIZATION, LACK OF OXIDATIVE ACTIVITY, AND ABSENT MITOCHONDRIA(HP:0003787)	[RYR1(6261), SEPN1(57190)]
TYPE 1 COLLAGEN OVERMODIFICATION(HP:0003784)	[CRTAP(10491), LEPRE1(64175)]
TYPE 1 FIBERS ARE AT LEAST 12% SMALLER THAN TYPE 2 FIBERS(HP:0003755)	[ACTA1(58)]
TYPE 1 MUSCLE FIBER PREDOMINANCE(HP:0003803)	[COL6A1(1291), RYR1(6261), MYH7(4625), COL6A2(1292), COL6A3(1293), TNNT1(7138), NEB(4703)]
TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554)	[COLQ(8292), CHRNA1(1134), CNBP(7555), CHAT(1103), CHRNE(1145), CHRND(1144), RAPSN(5913), CHRNB1(1140), MUSK(4593)]
TYPE A BRACHYDACTYLY(HP:0009370)	[HOXD13(3239), GDF5(8200), ROR2(4920), BMPR1B(658)]
TYPE D BRACHYDACTYLY(HP:0005627)	[SLC6A8(6535)]
TYPE E BRACHYDACTYLY(HP:0005863)	[COL2A1(1280)]
TYPE I LISSENCEPHALY(HP:0006818)	[RELN(5649)]
TYPE II LISSENCEPHALY(HP:0007260)	[FKRP(79147), FKTN(2218), POMGNT1(55624), LARGE(9215), POMT1(10585), POMT2(29954)]
TYROSINEMIA(HP:0003231)	[FAH(2184), HPD(3242)]
ULNAR BOWING(HP:0003031)	[HOXA11(3207), FGFR1(2260), POR(5447), RECQL4(9401), FGFR2(2263), MMP13(4322), FLNA(2316)]
ULNAR DEVIATION OF FINGERS(HP:0009465)	[FBN2(2201), CD96(10225), HOXA13(3209), GDF5(8200), WNT7A(7476), LIFR(3977)]
ULNAR DEVIATION OF INDEX FINGERS(HP:0005811)	[HOXA13(3209)]
ULNAR DEVIATION OF THE 2ND FINGER(HP:0009464)	[GDF5(8200)]
ULNAR DEVIATION OF THE 3RD FINGER(HP:0009463)	[GDF5(8200)]
ULNAR DEVIATION OF THE HAND(HP:0009487)	[LBR(3930)]
ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193)	[PEX19(5824), FBN2(2201), CD96(10225), PEX10(5192), PEX14(5195), PEX5(5830), RAPSN(5913), PEX13(5194), PEX1(5189), MYH3(4621), TNNI2(7136), GDF5(8200), PEX3(8504), TNNT3(7140), PAX3(5077), LIFR(3977), LBR(3930), DOK7(285489), HOXA13(3209), TPM2(7169), WNT7A(7476), PEX26(55670)]
ULNAR DEVIATION OF THE WRIST(HP:0003049)	[COMP(1311), TNNI2(7136), MYH3(4621), TPM2(7169), GALNS(2588), TNNT3(7140), GLB1(2720)]
ULTRASTRUCTURAL ABNORMALITIES IN MITOCHONDRIA ON ELECTRON MICROSCOPY(HP:0008322)	[TAZ(6901)]
UMBILICAL HERNIA(HP:0001537)	[FBN1(2200), HSPG2(3339), ARSB(411), GUSB(2990), ATRX(546), EFEMP2(30008), CCBE1(147372), NSD1(64324), GLRB(2743), LOX(4015), GLRA1(2741), GLI3(2737), IDS(3423), SLC26A2(1836), MED12(9968), COL5A2(1290), GPHN(10243), COL5A1(1289), DGCR(1714), FBLN5(10516), GPC6(10082), COL2A1(1280), GNPTAB(79158), BSCL2(26580), SALL1(6299), GPC3(2719), LRP2(4036), TSHB(7252), TBX1(6899), PORCN(64840), SLC5A5(6528), B3GALTL(145173), ROR2(4920), SEMA3E(9723), EFNB1(1947), LBR(3930), CHRNG(1146), AGPAT2(10555), SLC6A5(9152), RAB23(51715), COL1A1(1277), CHD7(55636), PAX8(7849), ADAMTS2(9509)]
UNCOMPLICATED ECTOPIA LENTIS(HP:0008016)	[ADAMTSL4(54507)]
UNCONJUGATED HYPERBILIRUBINEMIA(HP:0008282)	[UGT1A1(54658), RHAG(6005)]
UNCONJUGATED HYPERBILIRUBINEMIA 20-30MG/DL(HP:0008289)	[UGT1A1(54658)]
UNCONTROLLED EYE MOVEMENTS(HP:0007738)	[FKRP(79147), POMGNT1(55624)]
UNDERORBITAL SKIN CREASES(HP:0007796)	[LRP2(4036)]
UNERUPTED TEETH(HP:0000706)	[APC(324), FGFR1(2260)]
UNEXPLAINED FEVERS(HP:0001955)	[AQP2(359), AVPR2(554)]
UNFOLDED SUPERIOR HELICES(HP:0008583)	[SLC6A8(6535)]
UNILATERAL CLONIC SEIZURES(HP:0006813)	[GABRG2(2566), SCN1A(6323)]
UNILATERAL POLYMICROGYRIA, MOST OFTEN RIGHT-SIDED(HP:0006927)	[TUBB2B(347733)]
UNILATERAL RENAL AGENESIS(HP:0000122)	[PTPN11(5781), DGCR(1714), HNF1B(6928), KAL1(3730), TBX1(6899), PROKR2(128674)]
UNILATERAL VESTIBULAR SCHWANNOMA(HP:0009590)	[NF2(4771)]
UNOSSIFIED VERTEBRAL BODIES(HP:0004606)	[TRIP11(9321), ALPL(249)]
UNSTEADY GAIT(HP:0002317)	[PRNP(5621), ATP1A3(478), EP300(2033), FKRP(79147), SUCLG1(8802), CD96(10225), LARGE(9215), OPHN1(4983), EVC2(132884), SGCA(6442), HYLS1(219844), EBP(10682), MKS1(54903), FKTN(2218), BUB1B(701), DHCR7(1717), CREBBP(1387), PLG(5340), PDHX(8050), NPHP3(27031), POMT1(10585), EVC(2121), ATP7A(538), POMT2(29954)]
UNUSUAL FACIES(HP:0002004)	[L1CAM(3897)]
UNUSUAL HAIRLINE WITH HAIR GROWTH ON TEMPLES EXTENDING TO LATERAL EYEBROW(HP:0005325)	[FRAS1(80144), FREM2(341640)]
UPPER AIRWAY OBSTRUCTION(HP:0002781)	[FGFR1(2260), FGFR3(2261), FGFR2(2263)]
UPPER EYELID COLOBOMA(HP:0000636)	[TCOF1(6949), FRAS1(80144), FREM2(341640)]
UPPER LIMB INVOLVEMENT MAY OCCUR LATER(HP:0003484)	[YARS(8565), EGR2(1959), MPZ(4359), LMNA(4000), FGD4(121512)]
UPPER LIMB MUSCLE HYPOPLASIA(HP:0009016)	[SALL4(57167)]
UPPER LIMB POSTURAL TREMOR(HP:0007351)	[MPZ(4359), PMP22(5376)]
UPPER LIMB WEAKNESS AND ATROPHY PREDOMINATES(HP:0003471)	[BSCL2(26580), GARS(2617)]
UPPER MOTOR NEURON ABNORMALITY(HP:0002127)	[SMN1(6606), SLC25A15(10166), NIPA1(123606), ZFYVE26(23503), UBA1(7317), SPG11(80208), KIF5A(3798), SETX(23064), CCT5(22948), SLC16A2(6567), SPG20(23111), IGHMBP2(3508), ALS2(57679), TREM2(54209), ABCB7(22), VRK1(7443), TYROBP(7305), PC(5091)]
UPSLANTING PALPEBRAL FISSURES(HP:0000582)	[MYCN(4613), PEX19(5824), ABCD3(5825), SNRPN(6638), CD96(10225), ATRX(546), EHMT1(79813), PEX2(5828), PEX5(5830), GATA1(2623), NBN(4683), HSD17B4(3295), DCR(1637), BUB1B(701), NDN(4692), PQBP1(10084), PEX26(55670), ADAMTSL2(9719), PCNT(5116), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), PEX7(5191), B3GALTL(145173), PEX3(8504), TFAP2A(7020), EIF2AK3(9451), MCPH1(79648), KDM5C(8242), AP3B1(8546)]
UPTURNED NOSE(HP:0000427)	[FBN1(2200), MYCN(4613), PEX19(5824), ATRX(546), PEX5(5830), BRAF(673), GLI3(2737), MAP2K1(5604), MAP2K2(5605), MID1(4281), BUB1B(701), HRAS(3265), CRLF1(9244), GNPTAB(79158), SC5DL(6309), GPC3(2719), LRPPRC(10128), AGA(175), PEX10(5192), PEX14(5195), PEX13(5194), PEX1(5189), ROR2(4920), ABCC8(6833), GJA1(2697), SLC17A5(26503), GNPAT(8443), AGL(178), KCNJ11(3767), CD96(10225), PDHA1(5160), FH(2271), EHMT1(79813), FGFR1(2260), ATIC(471), INPP5E(56623), COL11A2(1302), COL11A1(1301), INS(3630), DHCR7(1717), AHI1(54806), FGD1(2245), COL2A1(1280), PEX26(55670), ADAMTSL2(9719), GCK(2645), TRIP11(9321), PEX3(8504), KRAS(3845), NIPBL(25836), OFD1(8481), GBA(2629)]
URETERAL ATRESIA(HP:0005999)	[NPHP3(27031)]
URETERAL DUPLICATION(HP:0000073)	[TP63(8626), FANCD2(2177), FANCA(2175), PORCN(64840), FANCC(2176), FANCE(2178), B3GALTL(145173), CPT2(1376), ZMPSTE24(10269)]
URETERAL OBSTRUCTION(HP:0006000)	[ATP7A(538)]
URETERAL STENOSIS(HP:0000071)	[FLNA(2316)]
URETEROCELE(HP:0000070)	[TP63(8626)]
URETEROPELVIC JUNCTION OBSTRUCTION(HP:0000074)	[HOXD13(3239), HNF1B(6928), HOXA13(3209)]
URETHRAL ATRESIA(HP:0000068)	[WNT3(7473)]
URETHRAL STENOSIS(HP:0008661)	[DKC1(1736), PLEC(5339)]
URETHROVAGINAL FISTULAE(HP:0008716)	[UBR1(197131)]
URIC ACID UROLITHIASIS(HP:0000791)	[SLC22A12(116085), PRPS1(5631), PRPS2(5634)]
URINARY INCONTINENCE(HP:0000020)	[ARSA(410), ZFYVE26(23503), ATL1(51062), AUH(549), CYP7B1(9420), SPG7(6687), HSPD1(3329), KIAA0196(9897), SPAST(6683), PSAP(5660), ATXN10(25814), HMBS(3145), TREM2(54209), HEXB(3074), CHMP2B(25978), NIPA1(123606), SPG11(80208), KIF5A(3798), TBP(6908), SLC9A6(10479), PANK2(80025), IGHMBP2(3508), VANGL1(81839), TYROBP(7305), MNX1(3110), NOTCH3(4854)]
URINARY LABORATORY ABNORMALITY(HP:0003110)	[AMT(275), PLCE1(51196), PGK1(5230), RET(5979), SUCLG1(8802), GUSB(2990), MMADHC(27249), LYZ(4069), MMAA(166785), PGAM2(5224), MCCC2(64087), AVPR2(554), SLC6A19(340024), MCCC1(56922), DNAJC19(131118), DCXR(51181), FAH(2184), SLC7A7(9056), NPHS1(4868), GLDC(2731), NPHP1(4867), GUCY2D(3000), MYH9(4627), COQ2(27235), UQCRB(7381), ACADM(34), TK2(7084), GLA(2717), UPK3A(7380), ACADS(35), ACADL(33), PEX10(5192), KIF1B(23095), PEX14(5195), PEX13(5194), LRP2(4036), ACADVL(37), PEX1(5189), C10orf2(56652), PFKM(5213), SLC12A3(6559), MPV17(4358), SLC12A1(6557), UMPS(7372), ATP7B(540), TNFRSF11A(8792), PTH1R(5745), CPT2(1376), NPHP4(261734), CYP11A1(1583), SLC6A20(54716), NPHS2(7827), SDHD(6392), SDHB(6390), OCRL(4952), HBB(3043), BCS1L(617), FGF23(8074), LMX1B(4010), PDSS2(57107), COL4A6(1288), MEFV(4210), BSND(7809), CYP27B1(1594), KCNJ1(3758), APOA1(335), PDSS1(23590), CYP21A2(1589), CBS(875), COL4A4(1286), COL4A5(1287), PEX26(55670), FGA(2243), CYP11B2(1585), COL4A3(1285), HPRT1(3251), LMNB2(84823), SLC37A4(2542), COX6B1(1340), TNFRSF11B(4982), G6PC(2538), ARG1(383), PEX3(8504), NIPBL(25836), SLC7A9(11136), HADHB(3032), HADH(3033), AQP2(359), CLDN16(10686), FASTKD2(22868), SCNN1G(6340), HPD(3242), CASR(846), HADHA(3030), SCNN1A(6337), SCNN1B(6338), PEX19(5824), AMN(81693), BTD(686), ARSB(411), TBXAS1(6916), SLC19A2(10560), OXCT1(5019), CTH(1491), PEX5(5830), SCARB2(950), PRPS1(5631), ERCC6(2074), PRODH(5625), PYGM(5837), HMGCL(3155), PLOD2(5352), ALDH4A1(8659), CTNS(1497), IDS(3423), MTHFR(4524), HMBS(3145), HNF1B(6928), GALT(2592), CUBN(8029), UQCRQ(27089), HLCS(3141), AASS(10157), PMM2(5373), NEU1(4758), FMO3(2328), FN1(2335), SLC36A2(153201), LPIN1(23175), GALE(2582), LAMB2(3913), GRHPR(9380), ETFDH(2110), ETFB(2109), ETFA(2108), LCAT(3931), NR0B1(190), ADAMTS13(11093), AGXT(189), ETHE1(23474), ISCU(23479), SQSTM1(8878), ACAD9(28976), ERCC8(1161), LMBRD1(55788), PAX2(5076), MUT(4594), GPHN(10243), DGUOK(1716), SLC3A1(6519), SLC17A3(10786), SLC2A2(6514), SLC5A2(6524), NPHP3(27031), CFH(3075), MOCS2(4338), ALAD(210), MOCS1(4337), SLC5A1(6523), STAR(6770), SMARCAL1(50485), COQ9(57017), CLCN5(1184), PHEX(5251), MMAB(326625), PHKA1(5255), CLCNKB(1188), C3(718), ALDOB(229), GCSH(2653), MMACHC(25974), VHL(7428), PCCB(5096), MTRR(4552), SLC34A3(142680), ALPL(249), MCEE(84693), APTX(54840), GCDH(2639), PCCA(5095), CABC1(56997)]
URINARY RETENTION(HP:0000016)	[PRNP(5621), HMBS(3145), VANGL1(81839)]
URINARY TRACT ATRESIA(HP:0000809)	[WNT3(7473)]
URINARY TRACT INFECTIONS(HP:0000094)	[PNP(4860), BTK(695)]
URINARY TRACT NEOPLASIA(HP:0010786)	[EP300(2033), AKT1(207), FH(2271), DIRC2(84925), FLCN(201163), HNF1A(6927), PIK3CA(5290), SDHB(6390), FGFR3(2261), NSD1(64324), CDC73(79577), NRAS(4893), BRCA2(675), CDKN1C(1028), CDKN2A(1029), H19(283120), PDGFRL(5157), RNF139(11236), KCNQ1OT1(10984), APC(324), TRIM37(4591), BUB1B(701), HRAS(3265), MLH3(27030), PRCC(5546), FN1(2335), GPC3(2719), PTPRJ(5795), KRAS(3845), PTEN(5728), WT2(7491), TSC1(7248), WT1(7490), TSC2(7249), VHL(7428), CCND1(595), RB1(5925), OGG1(4968), TP53(7157), AXIN2(8313), ATP7A(538)]
URINARY URGENCY(HP:0000012)	[PINK1(65018), ZFYVE26(23503), NIPA1(123606), ATL1(51062), ATXN10(25814), SPG11(80208), KIF5A(3798), SACS(26278), HSPD1(3329), SPG7(6687), KIAA0196(9897), SPAST(6683)]
URINARY XANTHINE STONES(HP:0000804)	[GPHN(10243), XDH(7498), MOCS2(4338), MOCS1(4337)]
URINE CONCENTRATION DEFECT(HP:0005568)	[HBB(3043), CEP290(80184)]
URTICARIA(HP:0001025)	[SPINK5(11005), FAS(355), CASP10(843)]
USUALLY AUTOSOMAL DOMINANT(HP:0001455)	[TH(7054), SCN9A(6335), LMNA(4000), RP1(6101), RP9(6100), LPAR6(10161), PRPS1(5631), POLG(5428), PDE6B(5158), WNT10B(7480), AIRE(326), PRPH2(5961), THRB(7068), NDP(4693), FLT4(2324), ADAMTS10(81794), FUCA2(2519), CYP19A1(1588), ELOVL4(6785), MYO7A(4647), GNAS(2778), IMPDH1(3614), ENAM(10117), SLC34A3(142680), FXYD2(486), KDR(3791)]
UTERINE LEIOMYOMA(HP:0000131)	[FH(2271)]
UTERINE LEIOMYOSARCOMA(HP:0002891)	[EP300(2033), AKT1(207), FH(2271), PTPRJ(5795), FLCN(201163), PIK3CA(5290), NRAS(4893), PDGFRL(5157), APC(324), BUB1B(701), MLH3(27030), TP53(7157), AXIN2(8313)]
UTERINE NEOPLASIA(HP:0010784)	[EP300(2033), AKT1(207), FH(2271), PTPRJ(5795), FLCN(201163), PIK3CA(5290), NRAS(4893), PDGFRL(5157), APC(324), BUB1B(701), MLH3(27030), TP53(7157), AXIN2(8313)]
UTERINE PROLAPSE(HP:0000139)	[RPS6KA3(6197), COL3A1(1281)]
UVEITIS(HP:0000554)	[IKBKG(8517), NOD2(64127)]
VACUOLATED BLOOD LYMPHOCYTES(HP:0008147)	[LIPA(3988)]
VACUOLATED LYMPHOCYTES(HP:0001922)	[LIPA(3988), CLN3(1201), AGA(175), SLC17A5(26503), FUCA1(2517), NEU1(4758), MAN2B1(4125), GLB1(2720)]
VAGAL NERVE TUMORS (GLOMUS VAGALE)(HP:0002886)	[SDHD(6392), SDHAF2(54949)]
VAGINAL ATRESIA(HP:0000148)	[MKKS(8195), FRAS1(80144), RET(5979), UPK3A(7380), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), FGFR1(2260), ARL6(84100), BBS4(585), FGFR2(2263), CEP290(80184), BBS12(166379), MKS1(54903), BBS10(79738), BBS7(55212), WNT3(7473), FREM2(341640), BBS9(27241), TTC8(123016)]
VAGINAL FISTULA(HP:0004320)	[MKKS(8195), SALL1(6299), POR(5447), SALL4(57167), RECQL4(9401), MNX1(3110), UBR1(197131)]
VALGUS FOOT DEFORMITY(HP:0008081)	[GDF5(8200)]
VALGUS HAND DEFORMITY(HP:0006228)	[GDF5(8200)]
VALGUS POSITION OF THE CALCANEUS(HP:0008120)	[HOXD10(3236)]
VARIABLE AGE AT ONSET(HP:0003618)	[BIN1(274), PGK1(5230), SLC34A2(10568), GRHL2(79977), PSAP(5660), PDSS2(57107), PDE11A(50940), PPT1(5538), KCNC3(3748), NPC2(10577), MYH7(4625), HNF1B(6928), COQ2(27235), TNFRSF1A(7132), NPC1(4864), PDSS1(23590), CYP11B1(1584), MYO7A(4647), CHRNA1(1134), COQ9(57017), HSPB1(3315), PHKA1(5255), SPTBN2(6712), TRPV4(59341), PRKAR1A(5573), CHRNE(1145), CHRND(1144), ATP8B1(5205), APTX(54840), CHRNB1(1140), CABC1(56997)]
VARIABLE AGE AT ONSET (CHILDHOOD TO ADULT)(HP:0003630)	[PDE11A(50940), PRKAR1A(5573), MYH7(4625), PHKA1(5255), CYP11B1(1584)]
VARIABLE BLEEDING TENDENCIES(HP:0008183)	[CD36(948)]
VARIABLE DEGREE OF CORNEAL OPACITIES(HP:0007957)	[GUSB(2990)]
VARIABLE DEGREE OF T CELL DYSFUNCTION(HP:0002844)	[TNFRSF13B(23495), ICOS(29851)]
VARIABLE EXPRESSIVITY(HP:0003828)	[SHH(6469), TWIST1(7291), PTCH1(5727), FGFR2(2263), NF2(4771), PITX2(5308), EYA1(2138), GLI3(2737)]
VARIABLE HYPERLIPIDEMIA(HP:0008159)	[PYGL(5836)]
VARIABLE HYPOGLYCEMIA(HP:0003356)	[PHKA2(5256), PYGL(5836)]
VARIABLE MENTAL RETARDATION(HP:0002382)	[OFD1(8481), SH2D1A(4068), FGFR1(2260), NSD1(64324), BTK(695), FGFR2(2263), DNMT3B(1789)]
VARIABLE MUSCLE CRAMPS ON EXERTION(HP:0009000)	[PHKA1(5255)]
VARIABLE PHENOTYPE(HP:0003813)	[SH3TC2(79628), FKRP(79147), PGK1(5230), SCN4A(6329), AUH(549), DCX(1641), ATRX(546), NAGS(162417), SETX(23064), SALL4(57167), MAPT(4137), MCCC1(56922), GLI3(2737), SLC7A7(9056), COQ2(27235), PTCH1(5727), NPC1(4864), UQCRB(7381), TK2(7084), CHRNA1(1134), ACADS(35), NIPA1(123606), TMEM216(51259), NKX2-1(7080), DCAF17(80067), C10orf2(56652), PFKM(5213), C20orf7(79133), MPZ(4359), CHRNE(1145), CHRND(1144), ACTA1(58), ALDH5A1(7915), CHRNB1(1140), CACNA1S(779), FH(2271), PDHA1(5160), RAPSN(5913), SDHA(6389), INPP5E(56623), BCS1L(617), MECP2(4204), FGFR2(2263), FGF23(8074), POLG(5428), TSFM(10102), PSAP(5660), PDSS2(57107), COL6A1(1291), SERPINA6(866), PSEN1(5663), NDUFA1(4694), COL6A2(1292), COL6A3(1293), COL4A1(1282), PDSS1(23590), ACY1(95), NEB(4703), LMNB2(84823), GNAS(2778), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), NIPBL(25836), NDUFV1(4723), NDUFS2(4720), PCDH19(57526), HADH(3033), NDUFS6(4726), NDUFS4(4724), PMP22(5376), SDHAF1(644096), SMPD1(6609), ATL1(51062), TWIST1(7291), TRIM32(22954), NEFL(4747), PRODH(5625), PLP1(5354), NDUFAF2(91942), SPAST(6683), BUB1B(701), NPC2(10577), HNF1B(6928), UQCRQ(27089), ANO5(203859), LAMB2(3913), NDUFAF3(25915), TSHR(7253), SRD5A2(6716), TSC1(7248), NF2(4771), TSC2(7249), PRX(57716), PDHX(8050), ZFYVE26(23503), MUSK(4593), EYA1(2138), EGR2(1959), PPT1(5538), NME1(4830), CFH(3075), CLCN1(1180), PAK3(5063), PITX2(5308), COQ9(57017), SHH(6469), PHEX(5251), CLCN5(1184), DES(1674), GBA(2629), APTX(54840), CABC1(56997)]
VARIABLE PRENATAL GROWTH DEFICIENCY(HP:0008892)	[MKS1(54903)]
VARIABLE PROGRESSION RATE(HP:0003682)	[SGCB(6443)]
VARIABLE SEVERITY(HP:0003814)	[FKRP(79147), ATL1(51062), RAPSN(5913), NEFL(4747), SETX(23064), MUSK(4593), SPAST(6683), PSAP(5660), COL6A1(1291), EGR2(1959), PPT1(5538), COL6A2(1292), COL6A3(1293), COL4A1(1282), ANO5(203859), PAK3(5063), NEB(4703), CHRNA1(1134), NIPA1(123606), GNAS(2778), TSHR(7253), PRX(57716), PFKM(5213), PCDH19(57526), MPZ(4359), CHRNE(1145), CHRND(1144), ACTA1(58), PDHX(8050), CHRNB1(1140), PMP22(5376)]
VARIABLE SHORT STATURE(HP:0008888)	[THRB(7068)]
VARICOSE VEINS(HP:0002619)	[FOXC2(2303), COL5A1(1289), ENG(2022), NOTCH3(4854), VHL(7428)]
VARUS DEFORMITY OF HUMERAL NECK(HP:0006362)	[GNPTAB(79158)]
VASCULAR CALCIFICATIONS(HP:0004934)	[HGD(3081), ENPP1(5167), KL(9365), GALNT3(2591), FGF23(8074)]
VASCULAR TORTUOSITY(HP:0004948)	[SLC2A10(81031), FBLN5(10516), EFEMP2(30008), TSPYL1(7259), APP(351), TGFBR1(7046), LOX(4015), ATP7A(538)]
VASCULITIS(HP:0002633)	[WAS(7454), PRTN3(5657), DOCK8(81704), PNP(4860), TREX1(11277), C4A(720), CFH(3075), CFI(3426)]
VELOPHARYNGEAL INSUFFICIENCY(HP:0000220)	[TCOF1(6949), TP63(8626), TBX1(6899)]
VENOUS ABNORMALITIES(HP:0002624)	[FOXC2(2303), PPARG(5468), SERPIND1(3053), LMNA(4000), PROC(5624), PROS1(5627), PDGFRA(5156), VHL(7428), JAK2(3717), PPP1R3A(5506), SERPINC1(462), TTR(7276), COL5A1(1289), ENG(2022), NOTCH3(4854)]
VENOUS THROMBOSIS(HP:0004936)	[SERPINC1(462), PROC(5624), PROS1(5627), PDGFRA(5156)]
VENOUS VARICOSITIES OF CELIAC AND MESENTERIC VESSELS(HP:0002626)	[ENG(2022)]
VENTILAR DEPENDENCE WITH INABILITY TO WEAN(HP:0005946)	[IGHMBP2(3508)]
VENTRICULAR ANEURYSMS(HP:0006698)	[RYR2(6262), PKP2(5318)]
VENTRICULAR ARRHYTHMIA(HP:0004308)	[RYR2(6262), SCN5A(6331), MYBPC3(4607), PKP2(5318), SLC25A20(788), JUP(3728), LMNA(4000), GNAI2(2771), TGFB3(7043), PRKAG2(51422), DSP(1832), KCNE2(9992), KCNJ2(3759), KCNQ1(3784), DSG2(1829), KCNH2(3757), DSC2(1824), KCNE1(3753)]
VENTRICULAR ESCAPE RHYTHMS(HP:0005155)	[SCN5A(6331)]
VENTRICULAR EXTRASYSTOLES(HP:0006682)	[SLC25A20(788), DSP(1832), DSG2(1829)]
VENTRICULAR FIBRILLATION(HP:0001663)	[SCN5A(6331), KCNE2(9992), KCNQ1(3784), KCNH2(3757), KCNE1(3753)]
VENTRICULAR FILLING ABNORMAL(HP:0006683)	[TTR(7276)]
VENTRICULAR HYPERTROPHY(HP:0001714)	[GLA(2717), MKKS(8195), SLC25A20(788), BBS5(129880), BBS1(582), TRIM32(22954), BBS2(583), AIP(9049), ARL6(84100), BBS4(585), CEP290(80184), SGCG(6445), BBS12(166379), SSTR5(6755), BBS10(79738), MKS1(54903), BBS7(55212), AGL(178), SMAD9(4093), BBS9(27241), TTC8(123016), BMPR2(659)]
VENTRICULAR HYPERTROPHY ON ECG(HP:0005167)	[AGL(178)]
VENTRICULAR PREEXCITATION(HP:0006676)	[PRKAG2(51422)]
VENTRICULAR SEPTAL DEFECT(HP:0001629)	[ERBB3(2065), FBN1(2200), PEX19(5824), EP300(2033), FBN2(2201), PEX5(5830), CCBE1(147372), SALL4(57167), NSD1(64324), MGP(4256), STRA6(64220), GLI3(2737), FLNB(2317), ESCO2(157570), SOX2(6657), HRAS(3265), ZIC3(7547), UBR1(197131), SALL1(6299), GPC3(2719), PEX10(5192), PEX14(5195), LRP2(4036), BCOR(54880), PEX13(5194), PEX1(5189), LRP5(4041), B3GALTL(145173), ROR2(4920), LBR(3930), GJA1(2697), CREBBP(1387), CRELD1(78987), RAB23(51715), JAG1(182), MGAT2(4247), WHCR(7467), CD96(10225), WHSC1(7468), HCCS(3052), ZEB2(9839), FGFR2(2263), MED12(9968), PTPN11(5781), DHCR7(1717), SOS1(6654), DGCR(1714), GPC6(10082), PQBP1(10084), PEX26(55670), FOXC2(2303), TBX5(6910), TBX1(6899), TP63(8626), HYLS1(219844), PEX3(8504), NODAL(4838), NIPBL(25836), HOXD13(3239), FAM123B(139285)]
VENTRICULAR TACHYCARDIA(HP:0004756)	[RYR2(6262), SLC25A20(788), JUP(3728), GNAI2(2771)]
VENTRICULOMEGALY(HP:0002119)	[FKRP(79147), PDHA1(5160), LARGE(9215), ERCC3(2071), RPS6KA3(6197), ZIC4(84107), NSD1(64324), OCRL(4952), HSD17B4(3295), FGFR2(2263), TSFM(10102), COL18A1(80781), BUB1B(701), TRIM37(4591), L1CAM(3897), ATXN3(4287), ZIC1(7545), MAPK10(5602), POMT1(10585), ATXN2(6311), GLB1(2720), TBCE(6905), POMGNT1(55624), OPHN1(4983), D2HGDH(728294), B3GALTL(145173), EBP(10682), TUBA1A(7846), FKTN(2218), GRN(2896), ARX(170302), SLC12A6(9990), MRPS16(51021), CPT2(1376), POMT2(29954)]
VERTEBRAL ARCH ABNORMALITIES(HP:0008438)	[JAG1(182)]
VERTEBRAL CALCIFICATIONS(HP:0008420)	[EBP(10682), LBR(3930)]
VERTEBRAL CLEFTS(HP:0008428)	[HSPG2(3339), CHRNG(1146), ALPL(249), CHST3(9469), PEX7(5191), COL2A1(1280), COL11A2(1302), FLNB(2317)]
VERTEBRAL COMPRESSION FRACTURES(HP:0002953)	[SQSTM1(8878), MMP2(4313), GBA(2629), GORAB(92344), CRTAP(10491), AIP(9049), TNFRSF11A(8792), UROS(7390), LEPRE1(64175)]
VERTEBRAL FUSION(HP:0002948)	[CHRNA1(1134), FKRP(79147), WHCR(7467), WHSC1(7468), SALL4(57167), FGFR2(2263), ROR2(4920), FLNA(2316), FLNB(2317), HGD(3081), DLL3(10683), NOG(9241), SOX2(6657), CHRNG(1146), PTCH1(5727), CHRND(1144), GDF6(392255), ACVR1(90)]
VERTEBRAL HYPEROSTOSIS(HP:0008442)	[GJA1(2697)]
VERTEBRAL HYPOPLASIA(HP:0008417)	[LBR(3930), SOX2(6657), NSDHL(50814)]
VERTEBRAL SEGMENTATION DEFECTS(HP:0003422)	[GPC3(2719), B3GALTL(145173), FLNB(2317)]
VERTICAL SUPRANUCLEAR GAZE PALSY(HP:0000511)	[NPC2(10577), NPC1(4864)]
VERTICAL TALUS(HP:0001838)	[PEX19(5824), PEX10(5192), PEX5(5830), PEX14(5195), RAPSN(5913), PEX13(5194), FGFR1(2260), PEX1(5189), MYH3(4621), TNNI2(7136), FGFR2(2263), PEX3(8504), ERCC6(2074), TNNT3(7140), ZMPSTE24(10269), FLNA(2316), DOK7(285489), CHRNG(1146), HOXD10(3236), POR(5447), TPM2(7169), EMG1(10436), PEX26(55670)]
VERTIGO(HP:0002321)	[MYO7A(4647), CACNA1A(773), NAGA(4668), MVK(4598)]
VERY LONG CHAIN FATTY ACID ACCUMULATION(HP:0008167)	[PEX2(5828), PEX1(5189), PEX26(55670)]
VERY SHORT, BROAD TUBULAR BONES(HP:0005044)	[COL2A1(1280)]
VERY SLOW PROGRESSION(HP:0003681)	[ITPR1(3708)]
VESICOURETERAL REFLUX(HP:0000076)	[SALL1(6299), CD96(10225), ATRX(546), HOXD13(3239), TP63(8626), CCBE1(147372), HOXA13(3209), SALL4(57167), MNX1(3110), NIPBL(25836), PAX2(5076), EYA1(2138)]
VESICOVAGINAL FISTULA(HP:0001586)	[MKKS(8195), POR(5447)]
VESTIBULAR AREFLEXIA(HP:0008568)	[MYO7A(4647)]
VESTIBULAR DYSFUNCTION(HP:0001751)	[MYO7A(4647), CACNA1A(773), TYR(7299), MITF(4286), USH1G(124590), CDH23(64072), USH1C(10083), POLG(5428), SLC26A4(5172), CLRN1(7401), PCDH15(65217), C10orf2(56652)]
VESTIBULAR DYSFUNCTION, VARIABLE(HP:0007921)	[CLRN1(7401)]
VESTIBULAR HYPOFUNCTION(HP:0001756)	[MYO7A(4647), TYR(7299), MITF(4286), USH1C(10083)]
VESTIBULAR SCHWANNOMA(HP:0009588)	[NF2(4771)]
VIRAL HEPATITIS(HP:0006562)	[RFX5(5993), MET(4233), RFXAP(5994), PIK3CA(5290), BTK(695), CASP8(841), RFXANK(8625), TP53(7157), CTNNB1(1499), AXIN1(8312), PDGFRL(5157), CIITA(4261)]
VISCEROMEGALY(HP:0003271)	[CPT1A(1374), FBP1(2203), GUSB(2990), CPOX(1371), LYZ(4069), MMAA(166785), SH2D1A(4068), CLDN1(9076), NSD1(64324), HSD17B4(3295), H19(283120), ANK1(286), DPM1(8813), FAH(2184), KCNQ1OT1(10984), SLC22A5(6584), SLC7A7(9056), GNMT(27232), GUCY2D(3000), THPO(7066), NPC1(4864), CTSA(5476), GNE(10020), GNPTAB(79158), GLB1(2720), SC5DL(6309), ACADM(34), ACADL(33), GPC3(2719), SLC25A20(788), LYST(1130), PEX10(5192), PEX14(5195), PEX13(5194), ACADVL(37), PEX1(5189), UROS(7390), IL2RG(3561), C10orf2(56652), ACOX1(51), MPL(4352), AP3B1(8546), MPV17(4358), SLC17A5(26503), ATP7B(540), ATP8B1(5205), NAGLU(4669), CPT2(1376), MAN2B1(4125), GP1BA(2811), LMNA(4000), HBB(3043), APOE(348), CDKN1C(1028), AMACR(23600), APOC2(344), PDGFRA(5156), NCF2(4688), PSAP(5660), LPL(4023), MEFV(4210), GNS(2799), RAG2(5897), SBDS(51119), RAG1(5896), APOA1(335), FUCA1(2517), PEX26(55670), FGA(2243), BSCL2(26580), ABHD5(51099), ADA(100), SLC37A4(2542), COX6B1(1340), SLC39A4(55630), G6PD(2539), G6PC(2538), PEX3(8504), CYBB(1536), JAK2(3717), LIPA(3988), FASTKD2(22868), ALMS1(7840), TPI1(7167), MOGS(7841), FAS(355), GAA(2548), CASP10(843), CASP8(841), CASR(846), SMPD1(6609), SLC25A15(10166), PEX19(5824), ABCD3(5825), ARSB(411), BTD(686), CD40LG(959), PEX2(5828), PEX5(5830), GATA1(2623), ERCC6(2074), PYGL(5836), BRAF(673), HMGCL(3155), CTNS(1497), MAP2K1(5604), IDS(3423), SGSH(6448), MAP2K2(5605), NPC2(10577), GALT(2592), TREX1(11277), PMM2(5373), ABCB11(8647), NEU1(4758), FMO3(2328), TCIRG1(10312), GALE(2582), GPI(2821), AGA(175), ABCG8(64241), PKLR(5313), ABCG5(64240), PKHD1(5314), AKR1D1(6718), GALNS(2588), ASL(435), CYBA(1535), ETFDH(2110), ETFB(2109), ETFA(2108), LBR(3930), MKS1(54903), BPGM(669), ASAH1(427), AGL(178), TNFSF11(8600), HK1(3098), CD96(10225), ERCC8(1161), TNFRSF13B(23495), MVK(4598), MUT(4594), MPI(4351), DGUOK(1716), CA2(760), TRIM37(4591), NCF1(653361), SLC17A3(10786), HEXB(3074), NPHP3(27031), SLC4A1(6521), HFE(3077), ADAMTSL2(9719), HGSNAT(138050), MMAB(326625), ALG1(56052), DCLRE1C(64421), PHKA2(5256), PHKB(5257), ALDOB(229), KRAS(3845), ALDOA(226), EIF2AK3(9451), CSF3R(1441), PCCB(5096), GBA(2629), PNP(4860), GBE1(2632), AGPAT2(10555), PC(5091), PCCA(5095), GCDH(2639)]
VISUAL FIELD DEFECTS(HP:0001123)	[PITPNM3(83394), MERTK(10461), RPGR(6103), RP2(6102), RP1(6101), CYP4V2(285440), RP9(6100), USH2A(7399), PRPH2(5961), GUCY2D(3000), SH3BP2(6452), PRPF3(9129), COL4A1(1282), SPATA7(55812), ELOVL4(6785), OPA1(4976), CRX(1406), IMPDH1(3614), PRPF8(10594), MFN2(9927), ABCC6(368), PROM1(8842), VCAN(1462), SOST(50964), TIMM8A(1678), CNGB1(1258), CHM(1121)]
VISUAL HALLUCINATIONS(HP:0002367)	[SNCA(6622), SNCB(6620), CACNA1A(773), EPM2A(7957), NHLRC1(378884)]
VISUAL IMPAIRMENT FROM OPTIC NERVE COMPRESSION(HP:0008495)	[CA2(760)]
VISUAL LOSS(HP:0000572)	[PITPNM3(83394), PGK1(5230), BTD(686), PLA2G6(8398), ST3GAL5(8869), PRPS1(5631), CLN6(54982), HSD17B4(3295), TGFBI(7045), POLG(5428), NHLRC1(378884), COL18A1(80781), RS1(6247), ATXN7(6314), PDSS2(57107), ABCA1(19), PPT1(5538), CA2(760), GUCY2D(3000), CLN8(2055), COQ2(27235), PDSS1(23590), EPM2A(7957), NEU1(4758), CFH(3075), TCOF1(6949), MYO7A(4647), COQ9(57017), MFSD8(256471), SOST(50964), BCOR(54880), LRP2(4036), CHM(1121), CTSD(1509), CLN5(1203), TPP1(1200), CLN3(1201), APTX(54840), ZNF469(84627), CABC1(56997)]
VISUAL LOSS, PROGRESSIVE(HP:0007967)	[PPT1(5538)]
VITAMIN B6 DEFICIENCY(HP:0008326)	[TTR(7276)]
VITELLIFORM MACULAR DYSTROPHY(HP:0007677)	[PRPH2(5961)]
VITILIGO(HP:0001045)	[AIRE(326), NBN(4683)]
VITREORETINAL ABNORMALITIES(HP:0007773)	[ERBB3(2065), LRP5(4041)]
VITREORETINAL DEGENERATION(HP:0000655)	[COL18A1(80781), VCAN(1462), COL2A1(1280), COL11A1(1301), CRB1(23418), NR2E3(10002)]
VITREOUS DETACHMENT(HP:0001489)	[FZD4(8322), LRP5(4041)]
VITREOUS HEMORRHAGE(HP:0007902)	[BEST1(7439), RB1(5925), FZD4(8322), LRP5(4041)]
VOCAL CORD PARALYSIS(HP:0001605)	[MYCN(4613), SDHD(6392), SDHC(6391), DCTN1(1639), SDHAF2(54949)]
VOCAL CORD PARALYSIS (CAUSED BY TUMOR IMPINGEMENT)(HP:0001606)	[SDHD(6392), SDHC(6391), SDHAF2(54949)]
VOCAL CORD PARESIS(HP:0001604)	[TRPV4(59341), MFN2(9927), GDAP1(54332)]
VOCAL CORD PARESIS IN SEVERE CASES(HP:0008745)	[MFN2(9927)]
VOMITING(HP:0002013)	[SLC25A15(10166), BTD(686), RET(5979), CPS1(1373), ATRX(546), MMAA(166785), OXCT1(5019), CPOX(1371), PPOX(5498), NAGS(162417), PHOX2B(8929), AVPR2(554), EDNRA(1909), NDUFAF2(91942), BRAF(673), OTC(5009), MCCC1(56922), MAP2K1(5604), MAP2K2(5605), SLC22A5(6584), SLC7A7(9056), HMBS(3145), GALT(2592), HLCS(3141), TYMP(1890), PMM2(5373), GALC(2581), ACADM(34), GLA(2717), TCN2(6948), GALE(2582), ACADL(33), NDUFAF3(25915), ACAT1(38), ASS1(445), ACADVL(37), NEUROG3(50674), D2HGDH(728294), GK(2710), ASL(435), DLD(1738), ETFDH(2110), SLC6A8(6535), ETFB(2109), ETFA(2108), C10orf2(56652), DBT(1629), C20orf7(79133), MPV17(4358), SLC12A1(6557), ACP2(53), CPT2(1376), TREH(11181), ZEB2(9839), ST3GAL5(8869), MVK(4598), POLG(5428), MPI(4351), DGUOK(1716), DHCR7(1717), L1CAM(3897), NDUFA1(4694), KCNJ1(3758), ALAD(210), CYP11B2(1585), GDNF(2668), HPRT1(3251), MMAB(326625), ALG3(10195), ALDOB(229), ARG1(383), NDUFA11(126328), KRAS(3845), NDUFAF4(29078), NDUFS1(4719), SERPING1(710), PCCB(5096), BCKDHA(593), NDUFV1(4723), LIPA(3988), NDUFS2(4720), AQP2(359), BCKDHB(594), NDUFS6(4726), IVD(3712), NDUFS4(4724), ALPL(249), SCNN1G(6340), MLYCD(23417), SCNN1A(6337), SMPD1(6609), SCNN1B(6338), PCCA(5095)]
WADDLING GAIT(HP:0002515)	[SMARCAL1(50485), PLEKHG5(57449), FKRP(79147), COMP(1311), TRIM32(22954), EMD(2010), WISP3(8838), COL9A2(1298), FGD4(121512), FLNC(2318), MMP13(4322), TGFB1(7040), NOG(9241), DOK7(285489), MYH7(4625), MATN3(4148), ALPL(249), DYM(54808), AGRN(375790), CHST3(9469), COL2A1(1280), PTH1R(5745), DMD(1756), NEB(4703)]
WALKING ON TIPTOES(HP:0002394)	[SPG11(80208)]
WARFARIN-INDUCED SKIN NECROSIS(HP:0001038)	[PROC(5624), PROS1(5627)]
WEAK CRY(HP:0001612)	[COLQ(8292), CHRNA1(1134), CHAT(1103), IGHMBP2(3508), CHRNE(1145), CHRND(1144), RAPSN(5913), ACTA1(58), CHRNB1(1140), MUSK(4593), NIPBL(25836), LAMA3(3909)]
WEAK OR ABSENT DEEP TENDON REFLEXES(HP:0001316)	[SAR1B(51128), APOB(338), ATM(472), SMCR(6600), GBE1(2632), RAI1(10743)]
WEAK, HIGH-PITCHED VOICE(HP:0008374)	[TRIM37(4591)]
WEAKNESS(HP:0002309)	[SNRPN(6638), DMPK(1760), LMNA(4000), RAPSN(5913), ERCC8(1161), SETX(23064), ERCC6(2074), PSAP(5660), RMRP(6023), SLC22A5(6584), NDN(4692), HMBS(3145), MYH7(4625), TTN(7273), ALS2(57679), FAM126A(84668), KCNJ2(3759), PMM2(5373), MATR3(9782), TRH(7200), HCRT(3060), COLQ(8292), NIPA1(123606), TCN2(6948), EMD(2010), TRPV4(59341), CACNA1A(773), GAA(2548), VRK1(7443), TPM3(7170), AR(367), DMD(1756), CACNA1S(779)]
WEAKNESS OF LONG FINGER EXTENSOR MUSCLES(HP:0009077)	[MYH7(4625)]
WEAKNESS OF THE VOCAL CORDS(HP:0001603)	[TRPV4(59341), MYCN(4613), MFN2(9927), SDHD(6392), SDHC(6391), GDAP1(54332), DCTN1(1639), SDHAF2(54949)]
WEBBED NECK(HP:0000465)	[FOXC2(2303), WHCR(7467), WHSC1(7468), MYH3(4621), TNNI2(7136), B3GALTL(145173), TNNT3(7140), SEMA3E(9723), PTPN11(5781), MKS1(54903), SOS1(6654), HRAS(3265), FAM123B(139285), NF1(4763), TPM2(7169), CHD7(55636)]
WEDGE-SHAPED VERTEBRAE(HP:0008422)	[PTCH1(5727)]
WEIGHT LESS THAN 3RD PERCENTILE(HP:0001826)	[RPS6KA3(6197), B3GALTL(145173)]
WEIGHT LOSS(HP:0001824)	[PRNP(5621), SNCA(6622), NME1(4830), JPH3(57338), TYMP(1890), POLG(5428)]
WHITE CORNEAL OPACIFICATION(HP:0007883)	[FRAS1(80144), FREM2(341640)]
WHITE EYEBROWS(HP:0002226)	[SOX10(6663), MITF(4286), PAX3(5077), EDNRB(1910)]
WHITE EYEBROWS AND EYELASHES(HP:0004536)	[MITF(4286), PAX3(5077)]
WHITE EYELASHES(HP:0002227)	[SOX10(6663), MITF(4286), PAX3(5077), EDNRB(1910)]
WHITE FORELOCK(HP:0002211)	[SOX10(6663), MITF(4286), SNAI2(6591), TFAP2A(7020), PAX3(5077), EDNRB(1910)]
WHITE MATER ABNORMALITIES IN THE POSTERIOR PERIVENTRICULAR REGION(HP:0006812)	[NAGA(4668)]
WHITE MATTER DYSMYELINATION/DEMYELINATION(HP:0007134)	[HSD17B4(3295)]
WHOLE-BLOOD CLOTTING TIME PROLONGED(HP:0005542)	[F12(2161), F5(2153)]
WIDE AND ELONGATED PHALANGES(HP:0006155)	[FLNA(2316)]
WIDE ANTERIOR FONTANEL(HP:0000260)	[FBN1(2200), EP300(2033), CRTAP(10491), LRP2(4036), FGFR1(2260), TSHB(7252), SEC23A(10484), FGFR2(2263), B3GALTL(145173), ROR2(4920), ETFDH(2110), ETFB(2109), FLNA(2316), ETFA(2108), GLI3(2737), MED12(9968), SOX9(6662), CREBBP(1387), COL1A1(1277), LEPRE1(64175), ADAMTS2(9509)]
WIDE CRANIAL SUTURES(HP:0010537)	[PEX19(5824), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), VDR(7421), PEX3(8504), ACE(1636), REN(5972), CYP2R1(120227), MSX2(4488), AGTR1(185), CYP27B1(1594), ALPL(249), SLC34A3(142680), AGT(183), PEX26(55670)]
WIDE INTERMAMILLARY DISTANCE(HP:0006610)	[FRAS1(80144), CD96(10225), TP63(8626), ERCC6(2074), B3GALTL(145173), TFAP2A(7020), PTPN11(5781), SOS1(6654), OFD1(8481), FAM123B(139285), CHST3(9469), FREM2(341640), KIAA1279(26128), CPT2(1376), GNPTAB(79158)]
WIDE METAPHYSES WITH LATERAL SPURS(HP:0005054)	[MATN3(4148)]
WIDE MIDLINE CLEFT LIP/PALATE(HP:0009089)	[TGIF1(7050)]
WIDE MOUTH(HP:0000154)	[ADAMTSL2(9719), AGA(175), SEC23A(10484), ATIC(471), GALNS(2588), PRPS1(5631), PRPS2(5634), GLB1(2720)]
WIDE PHILTRUM(HP:0000289)	[FGD1(2245)]
WIDE PUBIC SYMPHYSIS(HP:0003183)	[FRAS1(80144), DYM(54808), FREM2(341640), RUNX2(860)]
WIDE TUFTS OF DISTAL PHALANGES(HP:0006095)	[COL11A1(1301)]
WIDE-CUPPED COSTOCHONDRAL JUNCTIONS(HP:0000910)	[FGFR3(2261)]
WIDELY PATENT FONTANELS AND SUTURES(HP:0004492)	[PEX19(5824), PEX10(5192), PEX5(5830), PEX14(5195), PEX13(5194), PEX1(5189), VDR(7421), PEX3(8504), ACE(1636), REN(5972), CYP2R1(120227), MSX2(4488), AGTR1(185), CYP27B1(1594), ALPL(249), SLC34A3(142680), AGT(183), PEX26(55670)]
WIDELY SPACED AND FLEXED TOES(HP:0008077)	[PHF6(84295)]
WIDELY SPACED TEETH(HP:0000687)	[RPS6KA3(6197), ZEB2(9839), TP63(8626), GALNS(2588), ANCR(282), MECP2(4204), NIPBL(25836), VSX1(30813), IDS(3423), CDH3(1001), DLX3(1747), CDKL5(6792), FGF3(2248), CHST3(9469), UBE3A(7337), MAN2B1(4125), GLB1(2720), ACVR1(90)]
WIDELY SPACED TOES(HP:0008094)	[PHF6(84295), DSP(1832)]
WIDELY-SPACED UPPER INCISORS(HP:0001566)	[ATRX(546)]
WIDENED DISTAL PHALANGES(HP:0006200)	[COL11A1(1301), FLNB(2317)]
WIDENED METACARPAL SHAFT(HP:0006012)	[MMP2(4313)]
WIDENED METATARSAL SHAFT(HP:0008106)	[MMP2(4313)]
WIDENED PHALANGES(HP:0006009)	[COL11A1(1301), FLNA(2316), FLNB(2317)]
WIDENED PROXIMAL TIBIAL METAPHYSES(HP:0005028)	[BMPR1B(658)]
WIDENED, IRREGULAR METAPHYSES(HP:0005038)	[ARSB(411)]
WIDENING OF CERVICAL SPINAL CANAL(HP:0004571)	[GLE1(2733), TNNI2(7136), MYH3(4621), TPM2(7169), TNNT3(7140)]
WIDOW'S PEAK(HP:0000349)	[PTPN11(5781), MID1(4281), ALX3(257), SOS1(6654), FGD1(2245), EFNB1(1947)]
WIZENED FACE(HP:0000335)	[ERCC3(2071), ERCC8(1161), ERCC6(2074)]
WOLF-PARKINSON-WHITE SYNDROME(HP:0001716)	[GAA(2548), LAMP2(3920), TSC1(7248), TSC2(7249), PRKAG2(51422)]
WOOLLY HAIR(HP:0002224)	[JUP(3728), DSP(1832), LPAR6(10161)]
WORMIAN BONES(HP:0002645)	[LMNA(4000), CRTAP(10491), FLNA(2316), PLOD2(5352), RUNX2(860), ESCO2(157570), GJA1(2697), GORAB(92344), COL1A2(1278), PPIB(5479), COL1A1(1277), CTSK(1513), ATP7A(538), LEPRE1(64175)]
WRIST CONTRACTURES(HP:0001239)	[HSPG2(3339), ADAMTSL2(9719), ESCO2(157570), MMP2(4313), TBX15(6913), FLNA(2316)]
WRIST SWELLING(HP:0001225)	[OCRL(4952)]
WRITER'S CRAMP(HP:0002356)	[SGCE(8910), DRD2(1813), TOR1A(1861)]
X-LINKED DOMINANT INHERITANCE(HP:0001423)	[NHS(4810), PDHA1(5160), ATRX(546), HCCS(3052), RPS6KA3(6197), MECP2(4204), NDUFAF2(91942), FLNA(2316), SLC16A2(6567), EDA(1896), IKBKG(8517), NDUFA1(4694), NSDHL(50814), AMELX(265), FMR1(2332), FRMD7(90167), PHEX(5251), NDUFAF3(25915), BCOR(54880), PORCN(64840), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), GJB1(2705), EFNB1(1947), EBP(10682), NDUFV1(4723), NDUFS2(4720), SLC9A6(10479), OFD1(8481), NDUFS6(4726), C20orf7(79133), FAM123B(139285), NDUFS4(4724), LAMP2(3920), HSD17B10(3028)]
X-LINKED INHERITANCE(HP:0001417)	[PGK1(5230), MAOB(4129), MAOA(4128), DCX(1641), ATRX(546), SH2D1A(4068), GJC2(57165), AVPR2(554), SLC16A2(6567), RENBP(5973), MYF6(4618), EDA(1896), IKBKG(8517), FOXP3(50943), PRPH2(5961), SLC10A3(8273), ABCB7(22), AMELX(265), OPN1LW(5956), GLA(2717), CFP(5199), GPC3(2719), SAT1(6303), RAB39B(116442), GK(2710), S100G(795), IL2RG(3561), GJB1(2705), SLC6A8(6535), POU3F4(5456), CHM(1121), SLC9A6(10479), C20orf7(79133), PFKFB1(5207), CACNA1F(778), DYT3(1863), ATP7A(538), TRAPPC2(6399), TAF1(6872), UPF3B(65109), PDHA1(5160), HCCS(3052), CDR1(1038), ZNF41(7592), NYX(60506), OCRL(4952), MECP2(4204), PRPS2(5634), CUL4B(8450), PHF6(84295), GPR143(4935), NDP(4693), IGBP1(3476), NDUFA1(4694), POLA1(5422), NLGN4X(57502), FGD1(2245), COL4A5(1287), SYN1(6853), PQBP1(10084), SYP(6855), SERPINA7(6906), HPRT1(3251), ARAF(369), UBA1(7317), KAL1(3730), OPHN1(4983), IL1RAPL1(11141), PORCN(64840), NDUFA11(126328), NDUFAF4(29078), NDUFS1(4719), CYBB(1536), MCF2(4168), TAZ(6901), EBP(10682), GABRA3(2556), NDUFV1(4723), NDUFS2(4720), PCDH19(57526), KDM5C(8242), OFD1(8481), NDUFS6(4726), FAM123B(139285), NDUFS4(4724), AR(367), SMS(6611), HSD17B10(3028), CD40LG(959), RPGR(6103), ARSE(415), RP2(6102), STS(412), RPS6KA3(6197), GATA1(2623), PRPS1(5631), PLP1(5354), NDUFAF2(91942), OTC(5009), FLNA(2316), MTM1(4534), IDS(3423), MID1(4281), SOX3(6658), ZIC3(7547), ATP6AP2(10159), NSDHL(50814), BTK(695), ZFX(7543), DNM2(1785), RPS4X(6191), AFF2(2334), FMR1(2332), ELK1(2002), NDUFAF3(25915), BCOR(54880), EMD(2010), DKC1(1736), VMA21(203547), ARX(170302), NR0B1(190), MBTPS2(51360), LAMP2(3920), DMD(1756), NHS(4810), GRPR(2925), RS1(6247), MED12(9968), L1CAM(3897), ALAS2(212), GDI1(2664), ABCD1(215), PAK3(5063), FRMD7(90167), PHEX(5251), CLCN5(1184), FOXO4(4303), PHKA1(5255), PHKA2(5256), TIMM8A(1678), OPN1MW(2652), EFNB1(1947), TBX22(50945), WAS(7454), TFE3(7030), ARHGEF6(9459), F9(2158), F8(2157)]
X-LINKED RECESSIVE INHERITANCE(HP:0001419)	[PGK1(5230), CD40LG(959), ATRX(546), RPGR(6103), ARSE(415), SH2D1A(4068), RP2(6102), STS(412), GATA1(2623), PRPS1(5631), PLP1(5354), AVPR2(554), OTC(5009), FLNA(2316), MTM1(4534), IDS(3423), EDA(1896), FOXP3(50943), MID1(4281), ABCB7(22), ATP6AP2(10159), BTK(695), GLA(2717), CFP(5199), GPC3(2719), RAB39B(116442), EMD(2010), DKC1(1736), IL2RG(3561), SLC6A8(6535), VMA21(203547), ARX(170302), NR0B1(190), MBTPS2(51360), DMD(1756), DYT3(1863), ATP7A(538), TRAPPC2(6399), TAF1(6872), UPF3B(65109), PDHA1(5160), OCRL(4952), MECP2(4204), MED12(9968), CUL4B(8450), PHF6(84295), L1CAM(3897), NDP(4693), IGBP1(3476), FGD1(2245), PAK3(5063), SYN1(6853), PQBP1(10084), SERPINA7(6906), HPRT1(3251), FRMD7(90167), CLCN5(1184), PHKA1(5255), OPHN1(4983), PHKA2(5256), IL1RAPL1(11141), TIMM8A(1678), CYBB(1536), TAZ(6901), OFD1(8481), KDM5C(8242), WAS(7454), ARHGEF6(9459), F9(2158), F8(2157), AR(367), SMS(6611), HSD17B10(3028)]
XANTHELASMA(HP:0001114)	[LIPA(3988), LPL(4023), APOB(338), LDLR(3949), TTPA(7274), CYP27A1(1593), APOA2(336), SMPD1(6609)]
XANTHINE DEHYDROGENASE DEFICIENCY(HP:0003534)	[GPHN(10243), MOCS2(4338), MOCS1(4337)]
XANTHOMATOSIS(HP:0000991)	[LIPA(3988), SLC37A4(2542), LPL(4023), APOB(338), LDLR(3949), LMNA(4000), TTPA(7274), SLC17A3(10786), CYP27A1(1593), APOA2(336), G6PC(2538), SMPD1(6609)]
XERODERMA PIGMENTOSUM(HP:0007415)	[DDB1(1642), DDB2(1643), ERCC2(2068), ERCC3(2071), ERCC8(1161), ERCC5(2073), ERCC4(2072), XPC(7508), XPA(7507), POLH(5429)]
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP E, SUBTYPE 2(HP:0007580)	[DDB1(1642)]
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G(HP:0006736)	[ERCC5(2073)]
XEROSTOMIA(HP:0000217)	[FGF10(2255), TP63(8626), FGFR3(2261)]
XY FEMALE GONADAL DYSGENESIS(HP:0008723)	[SRY(6736)]
Y-LINKED INHERITANCE(HP:0001450)	[SRY(6736), RPS4Y1(6192), USP9Y(8287), DAZ1(1617), AMELY(266), KDM5D(8284)]
Y-SHAPED METACARPALS(HP:0006042)	[HOXD13(3239), GLI3(2737)]
YELLOW-BROWN DISCOLORATION OF THE TEETH(HP:0006286)	[ENAM(10117)]
ZOLLINGER-ELLISON SYNDROME(HP:0002044)	[MEN1(4221)]