Name		Synonyms
Failure to thrive		Poor weight gain Postnatal failure to thrive

Primary ID		Alternative IDs
HP:0001508		HP:0001535 HP:0008853 HP:0008878 HP:0008916

Term definition
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

Super-classes (vis)		Sub-classes (vis)
Decreased body weight		Failure to thrive in infancy ; Severe failure to thrive

PURL-link
http://purl.obolibrary.org/obo/HP_0001508

Diseases / genes associated with this term

Disease		Gene(s)
XQ28 (MECP2) DUPLICATION
ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE		NOTCH2
#102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY;;SCID DUE TO ADA DEFICIENCY;;ADA-SCID;;SCID DUE TO ADA DEFICIENCY, EARLY-ONSETSCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED;;SCID DUE TO ADA DEFICIENCY, LATE-ONSET, INCLUDED;;ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, INCLUDED;;PARTIAL ADA DEFICIENCY, INCLUDED		ADA
DIAMOND-BLACKFAN ANEMIA		RPS19
CAMPOMELIC DYSPLASIA		SOX9
#115150 CARDIOFACIOCUTANEOUS SYNDROME;;CFC SYNDROME;;CFCS		MAP2K1 ; MAP2K2 ; KRAS ; BRAF
#118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC		JAG1
COPPER DEFICIENCY, FAMILIAL BENIGN
122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME
#124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1		BCS1L
CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2		CYP11B2
DELTA-AMINOLEVULINATE DEHYDRATASE		ALAD
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL		AQP2
EDINBURGH MALFORMATION SYNDROME
#130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM;;PROTEODERMATAN SULFATE, DEFECTIVE BIOSYNTHESIS OF;;PDS, DEFECTIVE BIOSYNTHESIS OF;;DERMATAN SULFATE PROTEOGLYCAN;;XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY;;XGPT DEFICIENCY;;GALACTOSYLTRANSFERASE I DEFICIENCY		B4GALT7
COCKAYNE SYNDROME, TYPE B		ERCC6
HAWKINSINURIA		HPD
#143860 HYPERCHLORHIDROSIS, ISOLATED		CA12
#143880 HYPERCALCEMIA, INFANTILE;;HYPERCALCEMIA, IDIOPATHIC, OF INFANCY		CYP24A1
JACOBSEN SYNDROME		JBS
151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD
#162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B;;MEN IIB;;NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS;;WAGENMANN-FROBOESE SYNDROME;;MULTIPLE ENDOCRINE NEOPLASIA, TYPE III, FORMERLY; MEN3, FORMERLYMUCOSAL NEUROMA SYNDROME, INCLUDED		RET
#163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED		PTPN11
OSTEOGLOPHONIC DYSPLASIA		FGFR1
PELGER-HUET ANOMALY		LBR
+170993 PEROXISOME BIOGENESIS FACTOR 2; PEX2;;PEROXISOMAL MEMBRANE PROTEIN 3; PXMP3;;PEROXISOMAL MEMBRANE PROTEIN, 35-KD; PMP35;;PEROXISOMAL ASSEMBLY FACTOR 1; PAF1;;PEROXIN 2ZELLWEGER SYNDROME 3, INCLUDED; ZWS3, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F, INCLUDED		PEX2
*170995 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3; ABCD3;;PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1;;PEROXISOMAL MEMBRANE PROTEIN, 70-KD; PMP70		ABCD3
#174900 JUVENILE POLYPOSIS SYNDROME; JPS;;POLYPOSIS, JUVENILE INTESTINAL; PJI;;JUVENILE INTESTINAL POLYPOSIS; JIP;;POLYPOSIS, FAMILIAL, OF ENTIRE GASTROINTESTINAL TRACTJUVENILE POLYPOSIS OF STOMACH, INCLUDED;;JUVENILE POLYPOSIS COLI, INCLUDED		SMAD4 ; BMPR1A
#176270 PRADER-WILLI SYNDROME; PWS;;PRADER-LABHART-WILLI SYNDROMEPRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED;;PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6, INCLUDED		SNRPN ; NDN
#177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A;;PHA I, AUTOSOMAL DOMINANT		NR3C2
PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1
#180849 RUBINSTEIN-TAYBI SYNDROME 1; RSTS1;;RUBINSTEIN SYNDROME;;BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION;;BROAD THUMB-HALLUX SYNDROME		CREBBP
CD247 ANTIGEN		CD247
#192350 VATER ASSOCIATIONVACTERL ASSOCIATION, INCLUDED		HOXD13
#193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A;;FREEMAN-SHELDON SYNDROME; FSS;;WHISTLING FACE-WINDMILL VANE HAND SYNDROME;;CRANIOCARPOTARSAL DYSTROPHY;;CRANIOCARPOTARSAL DYSPLASIA		MYH3
#194050 WILLIAMS-BEUREN SYNDROME; WBS;;CHROMOSOME 7Q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB;;WILLIAMS SYNDROME; WMS; WS
#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4P16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME		WHCR
#200990 ACROCALLOSAL SYNDROME; ACLS;;HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM;;SCHINZEL ACROCALLOSAL SYNDROMEJOUBERT SYNDROME 12, INCLUDED; JBTS12, INCLUDED;;JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED		KIF7 ; ACLS
ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE		SLC39A4
ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF		ACADS
GLUCOCORTICOID DEFICIENCY 1		MC2R
#203400 CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY;;CMO I DEFICIENCY;;ALDOSTERONE DEFICIENCY I;;HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1; FHHA1A;;ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE;;18-@HYDROXYLASE DEFICIENCY;;STEROID 18-@HYDROXYLASE DEFICIENCY		CYP11B2
#203700 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A;;ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS;;ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY;;ALPERS SYNDROME;;ALPERS-HUTTENLOCHER SYNDROME;;NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE;PNDC		POLG
ARGININOSUCCINIC ACIDURIA		ASL
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS		VPS33B
BARE LYMPHOCYTE SYNDROME, TYPE II		RFX5 ; RFXAP ; RFXANK ; CIITA
#210200 3-@METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY;;MCCD TYPE 1;;MCC1 DEFICIENCY;;3-@METHYLCROTONYLGLYCINURIA I;;METHYLCROTONYLGLYCINURIA TYPE I		MCCC1
BILE ACID, SYNTHETIC DEFECT OF
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY
#210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1;;MOPD I; MOPD;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I;;BRACHYMELIC PRIMORDIAL DWARFISM;;TAYBI-LINDER SYNDROME; TALS;;CEPHALOSKELETAL DYSPLASIA;;LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA		RNU4ATAC
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1		ATP8B1
#211750 C SYNDROME;;OPITZ TRIGONOCEPHALY SYNDROME;;TRIGONOCEPHALY SYNDROME		CD96
#212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA; CDG1A;;CDG IA; CDGIA;;JAEKEN SYNDROME;;PHOSPHOMANNOMUTASE 2 DEFICIENCY;;CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IA, FORMERLY		PMM2
#212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA; CDG2A;;CDG IIA; CDGIIA;;ALKURAYA SYNDROME;;MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPENMOUTH;;CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY; CDGS2,FORMERLY		MGAT2
#212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP;;SYSTEMIC CARNITINE DEFICIENCY; SCD;;CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTIONOF CARNITINE;;CARNITINE DEFICIENCY, PRIMARY;;CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF;;CARNITINE UPTAKE DEFECT; CUD		SLC22A5
212540 CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME;;CAMFAK SYNDROMECATARACT, MICROCEPHALY, ARTHROGRYPOSIS, KYPHOSIS SYNDROME, INCLUDED;;CAMAK SYNDROME, INCLUDED
#212750 CELIAC DISEASE; CD;;CELIAC SPRUE;;GLUTEN-SENSITIVE ENTEROPATHY; GSECELIAC DISEASE, SUSCEPTIBILITY TO, 1, INCLUDED; CELIAC1, INCLUDED
#214100 ZELLWEGER SYNDROME; ZS;;CEREBROHEPATORENAL SYNDROME;;CHR SYNDROME;;ZWS		PEX1
CEREBROHEPATORENAL SYNDROME, VARIANT TYPES		PEX5
#214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1;;COFS SYNDROME; COFS;;PENA-SHOKEIR SYNDROME, TYPE II		ERCC6
#214700 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1;;CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE;;CHLORIDORRHEA, CONGENITAL		SLC26A3
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4		AMACR
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1		PEX7
#215700 CITRULLINEMIA, CLASSIC;;CITRULLINEMIA, TYPE I; CTLN1;;CITRULLINURIA;;ARGININOSUCCINATE SYNTHETASE DEFICIENCY;;ASS DEFICIENCY		ASS1
%216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTALAPHALANGIA;;YUNIS-VARON SYNDROME
#218030 APPARENT MINERALOCORTICOID EXCESS; AME;;AME1;;CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY		HSD11B2
#218040 COSTELLO SYNDROME;;FACIOCUTANEOSKELETAL SYNDROME;;FCS SYNDROMEMYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED; CMEMS,INCLUDED		HRAS
#219150 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A;;DE BARSY SYNDROME A;;CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION;;PROGEROID SYNDROME OF DE BARSY		ALDH18A1
#219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A;;ARCL2;;CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION;;CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY;;CUTIS LAXA, DEBRE TYPE;;CUTIS LAXA WITH BONE DYSTROPHY;;CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENT		ATP6V0A2
CYSTIC FIBROSIS		CFTR
CYSTINOSIS, NEPHROPATHIC		CTNS
MITOCHONDRIAL COMPLEX IV DEFICIENCY		COX6B1 ; COX14 ; FASTKD2 ; COA5
#220111 LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFC;;CYTOCHROME C OXIDASE DEFICIENCY, FRENCH CANADIAN TYPE;;COX DEFICIENCY, FRENCH CANADIAN TYPE;;COX DEFICIENCY, SAGUENAY-LAC-SAINT-JEAN TYPE;;LEIGH SYNDROME, SAGUENAY-LAC-SAINT-JEAN TYPE		LRPPRC
#220120 D-GLYCERIC ACIDURIA;;D-GLYCERIC ACIDEMIA;;GLYCERATE KINASE DEFICIENCY		GLYCTK
#222470 TRICHOHEPATOENTERIC SYNDROME 1; THES1;;THE SYNDROME;;DIARRHEA, SYNDROMIC;;DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA		TTC37
#222700 LYSINURIC PROTEIN INTOLERANCE; LPI;;DIBASIC AMINO ACIDURIA II		SLC7A7
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2		GNPAT
#224690 MEIER-GORLIN SYNDROME 1; MGORS1;;EAR, PATELLA, SHORT STATURE SYNDROME; EPS;;MICROTIA, ABSENT PATELLAE, MICROGNATHIA SYNDROME;;MEIER-GORLIN SYNDROME		ORC1
ENTEROKINASE DEFICIENCY		TMPRSS15
#226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE;;EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE;;JEB-HERLITZ TYPE;;EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ-PEARSON TYPE;;HERLITZ-PEARSON-TYPE EPIDERMOLYSIS BULLOSA;;EPIDERMOLYSIS BULLOSA LETALIS		LAMB3 ; LAMC2 ; LAMA3
ERYTHRODERMA, LETHAL CONGENITAL
FANCONI-BICKEL SYNDROME		SLC2A2
FARBER LIPOGRANULOMATOSIS		ASAH1
#229050 FOLATE MALABSORPTION, HEREDITARY		SLC46A1
#229600 FRUCTOSE INTOLERANCE, HEREDITARY;;FRUCTOSEMIA;;FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY;;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY;;ALDOLASE B DEFICIENCY;;ALDOB DEFICIENCY		ALDOB
#230350 GALACTOSE EPIMERASE DEFICIENCY;;GALE DEFICIENCY;;GALACTOSEMIA III;;UDP-GALACTOSE-4-EPIMERASE DEFICIENCY		GALE
GALACTOSEMIA		GALT
#230900 GAUCHER DISEASE, TYPE II;;GD II;;GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE		GBA
#231670 GLUTARIC ACIDEMIA I;;GLUTARIC ACIDURIA I;;GA I;;GLUTARYL-COA DEHYDROGENASE DEFICIENCY		GCDH
GLUTARYL-COA OXIDASE DEFICIENCY
GLYCOGEN STORAGE DISEASE IV		GBE1
234250 HALL-RIGGS MENTAL RETARDATION SYNDROME
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2		AKR1D1
#236200 HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY;;HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE;;CYSTATHIONINE BETA-SYNTHASE DEFICIENCY;;CBS DEFICIENCYHYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED		CBS
HYALINOSIS, INFANTILE SYSTEMIC
%236795 3-@HYDROXYISOBUTYRIC ACIDURIA
#237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO;;CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY;;CPS I DEFICIENCY		CPS1
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY		NAGS
HYPER-BETA-ALANINEMIA
HYPERLEUCINE-ISOLEUCINEMIA
#238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME;;HHH SYNDROME; HHHS; HHH;;ORNITHINE TRANSLOCASE DEFICIENCY		SLC25A15
HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA
HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY		CASR
BARTTER SYNDROME, ANTENATAL, TYPE 2		KCNJ1
HYPOPHOSPHATASIA, INFANTILE		ALPL
#241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH;;HYPERCALCIURIC RICKETS		SLC34A3
ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS
IMMUNE DEFECT DUE TO ABSENCE OF THYMUS
#242840 VICI SYNDROME; VICIS;;IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION,AND ABSENT CORPUS CALLOSUM		EPG5
#242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1; ICF1;;IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES1, 9, AND 16;;CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME; CIID;;IMMUNODEFICIENCY SYNDROME, VARIABLE		DNMT3B
#243800 JOHANSON-BLIZZARD SYNDROME; JBS;;NASAL ALAR HYPOPLASIA, HYPOTHYROIDISM, PANCREATIC ACHYLIA, AND CONGENITALDEAFNESS		UBR1
#245200 KRABBE DISEASE;;GLOBOID CELL LEUKODYSTROPHY; GLD; GCL;;GLOBOID CELL LEUKOENCEPHALOPATHY;;GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY;;GALACTOCEREBROSIDASE DEFICIENCY;;GALC DEFICIENCY		GALC
#245400 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITHMETHYLMALONIC ACIDURIA); MTDPS9;;LACTIC ACIDOSIS, FATAL INFANTILE, FORMERLY		SUCLG1
#246200 DONOHUE SYNDROME;;LEPRECHAUNISMINSULIN RECEPTOR, DEFECT IN, INCLUDED		INSR
#246700 CHYLOMICRON RETENTION DISEASE; CMRD;;ANDERSON DISEASE; ANDD;;LIPID TRANSPORT DEFECT OF INTESTINE;;HYPOBETALIPOPROTEINEMIA WITH ACCUMULATION OF APOLIPOPROTEIN B-LIKEPROTEIN IN INTESTINAL CELLS		SAR1B
#247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS;;MDSCHROMOSOME 17P13.3 DELETION SYNDROME, INCLUDED;;MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED
HYPOMAGNESEMIA 3, RENAL		CLDN16
#248800 MARINESCO-SJOGREN SYNDROME; MSS		SIL1
MENTAL RETARDATION, BUENOS AIRES TYPE
#250940 METHYLCOBALAMIN DEFICIENCY, CBLG TYPE;;HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM,CBLG COMPLEMENTATION TYPE		MTR
3-@METHYLGLUTACONIC ACIDURIA, TYPE I		AUH
#251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY;;METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCYMMA DUE TO MCM DEFICIENCY;;METHYLMALONIC ACIDURIA, MUT TYPEMETHYLMALONIC ACIDURIA, MUT(0) TYPE, INCLUDED;;METHYLMALONIC ACIDURIA, MUT(-) TYPE, INCLUDED		MUT
#251100 METHYLMALONIC ACIDURIA, CBLA TYPE;;METHYLMALONIC ACIDEMIA, CBLA TYPE;;METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESISOF ADENOSYLCOBALAMIN, CBLA TYPE		MMAA
#251110 METHYLMALONIC ACIDURIA, CBLB TYPE;;METHYLMALONIC ACIDEMIA, CBLB TYPE;;METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESISOF ADENOSYLCOBALAMIN, CBLB TYPE		MMAB
METHYLMALONYL-COA EPIMERASE DEFICIENCY		MCEE
#251290 BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA;BLCPMG;;PSEUDO-TORCH SYNDROME		OCLN
#251880 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3		DGUOK
#252010 MITOCHONDRIAL COMPLEX I DEFICIENCY;;NADH:Q(1) OXIDOREDUCTASE DEFICIENCY;;NADH-COENZYME Q REDUCTASE DEFICIENCY;;MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCYOF		NDUFAF3 ; NDUFAF1 ; NDUFB3 ; NDUFA11 ; NDUFAF4 ; NDUFS1 ; NDUFAF2 ; NDUFS3 ; NDUFV1 ; NDUFS2 ; NDUFAF5 ; NDUFS6 ; NDUFA1 ; NDUFS4 ; NUBPL ; FOXRED1 ; NDUFV2
#252500 MUCOLIPIDOSIS II ALPHA/BETA;;MUCOLIPIDOSIS II; ML II;;ML II ALPHA/BETA;;I-CELL DISEASE; ICD		GNPTAB
ULLRICH CONGENITAL MUSCULAR DYSTROPHY		COL6A1 ; COL6A2 ; COL6A3
254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBINSEQUENCE;;CAREY-FINEMAN-ZITER SYNDROME;;CFZ SYNDROME
#255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD;;FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITAL; CFTDM		SEPN1 ; ACTA1 ; TPM3
#256000 LEIGH SYNDROME; LS;;NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH; SNELEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY, INCLUDED		NDUFS7 ; NDUFA10 ; NDUFA9 ; SDHA ; BCS1L ; NDUFAF2 ; SURF1 ; NDUFA12 ; NDUFS3 ; COX15 ; NDUFS4 ; NDUFA2 ; NDUFS8 ; FOXRED1 ; NDUFAF6
#256040 AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD;;NAKAJO-NISHIMURA SYNDROME; NKJO;;JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCEDLIPODYSTROPHY; JMP SYNDROME;;CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND ELEVATEDTEMPERATURE SYNDROME; CANDLE		PSMB8
#256500 NETHERTON SYNDROME; NETH;;NS;;NETHERTON DISEASE		SPINK5
NEUROBLASTOMA		NME1
#256810 MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6;;NAVAJO NEUROHEPATOPATHY; NNH;;NAVAJO NEUROPATHY; NNNAVAJO FAMILIAL NEUROGENIC ARTHROPATHY, INCLUDED		MPV17
#257200 NIEMANN-PICK DISEASE, TYPE A;;SPHINGOMYELIN LIPIDOSIS;;SPHINGOMYELINASE DEFICIENCYNIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED		SMPD1
#258900 OROTIC ACIDURIA;;OROTIC ACIDURIA I;;OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY;;OPRT AND ODC DEFICIENCY;;OROTIDYLIC PYROPHOSPHORYLASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY;;URIDINE MONOPHOSPHATE SYNTHASE DEFICIENCY;;UMP SYNTHASE DEFICIENCY;;UMPS DEFICIENCYOROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA, INCLUDED; OAWA, INCLUDED		UMPS
#259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1;;OSTEOPETROSIS, INFANTILE MALIGNANT 1;;MARBLE BONES, AUTOSOMAL RECESSIVE;;ALBERS-SCHONBERG DISEASE, AUTOSOMAL RECESSIVE		TCIRG1
#260370 PANCREATIC AGENESIS, CONGENITAL; PAGEN;;PANCREATIC HYPOPLASIA, CONGENITAL		PDX1
SHWACHMAN-DIAMOND SYNDROME		SBDS
#260600 LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3		AIMP1
#261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY;;17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY;;DBP DEFICIENCY;;PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY;;PBFE DEFICIENCY		HSD17B4
INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL
%264090 PROGEROID SYNDROME, NEONATAL;;WIEDEMANN-RAUTENSTRAUCH SYNDROME
#264350 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1B;;PHA I, AUTOSOMAL RECESSIVE		SCNN1G ; SCNN1A ; SCNN1B
PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HANDANOMALIES
#264700 VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A;;VITAMIN D-DEPENDENT RICKETS, TYPE 1A;;1@-ALPHA, 25-HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE;;25-@HYDROXYCHOLECALCIFEROL-1-HYDROXYLASE DEFICIENCY;;1-@ALPHA-HYDROXYLASE DEFICIENCY;;VITAMIN D DEPENDENCY, TYPE 1; VDD1;;PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA; PDDR1A;;PDDR IA		CYP27B1
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1		SFTPB
REFSUM DISEASE, INFANTILE FORM		PEX12
%267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1;;HPLH1;;HLH1;;HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL; FHL; FHLH; HPLH;;RETICULOSIS, FAMILIAL HISTIOCYTIC;;HEMOPHAGOCYTIC RETICULOSIS, FAMILIAL;;ERYTHROPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL; FEL		HPLH1
#269150 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME;;SGS		SETBP1
SEVERE COMBINED IMMUNODEFICIENCY, ATYPICAL		ZAP70
INFANTILE SIALIC ACID STORAGE DISORDER		SLC17A5
#270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS;;SLO SYNDROME;;RSH SYNDROME;;RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME;;POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG;;LETHAL ACRODYSGENITAL SYNDROME		DHCR7
#271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI;;INFANTILE BILATERAL STRIATAL NECROSIS; IBSN;;BILATERAL STRIATAL NECROSIS, INFANTILE;;STRIATAL DEGENERATION, FAMILIAL		NUP62
#274270 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY;;DPD DEFICIENCY;;DPYD DEFICIENCY;;THYMINE-URACILURIA, HEREDITARY;;PYRIMIDINEMIA, FAMILIAL5-@FLUOROURACIL TOXICITY, INCLUDED		DPYD
#275350 TRANSCOBALAMIN II DEFICIENCY;;TC II DEFICIENCY;;TCN2 DEFICIENCY		TCN2
PROTEASE, SERINE, 1		PRSS1
TYROSINEMIA, TYPE I		FAH
VALINEMIA
VARADI-PAPP SYNDROME
#277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE;;METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, CBLF TYPE;;METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE DEFECT;;VITAMIN B12 LYSOSOMAL RELEASE DEFECT;;COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF;;VITAMIN B12 STORAGE DISEASE;;COBALAMIN F DISEASE; CBLF		LMBRD1
#277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE;;METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, CBLC TYPE;;METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, VITAMIN B12-RESPONSIVE;;VITAMIN B12 METABOLIC DEFECT WITH COMBINED DEFICIENCY OF METHYLMALONYL-COAMUTASE AND HOMOCYSTEINE:METHYLTETRAHYDROFOLATE METHYLTRANSFERASE		MMACHC
#277440 VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A;;VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA;;RICKETS, HEREDITARY VITAMIN D-RESISTANT; HVDRR;;GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D;;VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL;;PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA;;PDDR IIA;;HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS; HVDRR;;RICKETS-ALOPECIA SYNDROME		VDR
LYSOSOMAL ACID LIPASE DEFICIENCY		LIPA
ADRENAL HYPOPLASIA, CONGENITAL		NR0B1
#300352 CREATINE DEFICIENCY SYNDROME, X-LINKED;;CREATINE TRANSPORTER DEFECT;;MENTAL RETARDATION, X-LINKED, WITH SEIZURES, SHORT STATURE, AND MIDFACEHYPOPLASIA;;MENTAL RETARDATION, X-LINKED, WITH CREATINE TRANSPORT DEFICIENCY		SLC6A8
OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS		AMER1
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED		IL2RG
#300673 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS		MECP2
%301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS; PDR;;AMYLOIDOSIS, FAMILIAL CUTANEOUS		PDR
#302060 BARTH SYNDROME; BTHS;;CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA;;3-@METHYLGLUTACONIC ACIDURIA, TYPE II; MGCA2;;MGA, TYPE II; MGA2		TAZ
#302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2;;CDPXD; CPXD;;CONRADI-HUNERMANN SYNDROME;;HAPPLE SYNDROME;;CONRADI-HUNERMANN-HAPPLE SYNDROME		EBP
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED		AVPR2
FACIOGENITAL DYSPLASIA		FGD1
#308940 LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME; DL-ATS;;LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY;;ALPORT SYNDROME AND DIFFUSE LEIOMYOMATOSIS; ATS-DL;;CHROMOSOME XQ22.3 CENTROMERIC DELETION SYNDROME		COL4A6
#309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL;;OCRL1;;LOWE SYNDROME;;PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY		OCRL
MELNICK-NEEDLES SYNDROME		FLNA
#311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO;;ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY;;OTC DEFICIENCYVALPROATE SENSITIVITY, INCLUDED		OTC
#312080 PELIZAEUS-MERZBACHER DISEASE; PMD;;LEUKODYSTROPHY, HYPOMYELINATING, 1; HLD1		PLP1
#500009 MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT;;MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT, DUE TO RESPIRATORY CHAINDEFICIENCY;;COX DEFICIENCY MYOPATHY, INFANTILE, TRANSIENT;;RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT
#557000 PEARSON MARROW-PANCREAS SYNDROME;;SIDEROBLASTIC ANEMIA WITH MARROW CELL VACUOLIZATION AND EXOCRINE PANCREATICDYSFUNCTION
#560000 RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA
#600001 PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD;;PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITALHEART DISEASE		GATA6
#600081 VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B;;VITAMIN D-DEPENDENT RICKETS, TYPE 1B;;25-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE;;PSEUDOVITAMIN D3 DEFICIENCY RICKETS DUE TO 25-HYDROXYLASE DEFICIENCY		CYP2R1
#600118 WARBURG MICRO SYNDROME 1; WARBM1;;MICRO SYNDROME		RAB3GAP1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3		AGPS
#600802 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-POSITIVE, NK CELL-NEGATIVE;;SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE		JAK3
HARROD SYNDROME
#601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID; CDG1D;;CDG ID; CDGID;;CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV, FORMERLY; CDGS4,FORMERLY;;CDGS, TYPE IV, FORMERLY		ALG3
FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION
#601358 NICOLAIDES-BARAITSER SYNDROME; NCBRS;;SPARSE HAIR AND MENTAL RETARDATION;;NBS		SMARCA2
DIABETES MELLITUS, TRANSIENT NEONATAL, 1		ZFP57 ; TNDM
#601457 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,B CELL-NEGATIVE, NK CELL-POSITIVE;;SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE		RAG2 ; RAG1
#601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT		IGHM
BARTTER SYNDROME, ANTENATAL, TYPE 1		SLC12A1
#601808 CHROMOSOME 18Q DELETION SYNDROME;;CHROMOSOME 18Q- SYNDROME;;18Q- SYNDROME
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2		ABCB11
%602342 PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY;;PIERPONT SYNDROME
#602398 DESMOSTEROLOSIS		DHCR24
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION		DCLRE1C ; LIG4
#602473 ENCEPHALOPATHY, ETHYLMALONIC; EE		ETHE1
#602522 BARTTER SYNDROME, TYPE 4A;;BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS; BSNDSENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, INCLUDED		BSND
#602535 MARSHALL-SMITH SYNDROME; MRSHSS		NFIX
#602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB; CDG1B;;CDG IB; CDGIB;;CDG, GASTROINTESTINAL TYPE;;MANNOSEPHOSPHATE ISOMERASE DEFICIENCY;;MPI DEFICIENCY;;PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME;;SAGUENAY-LAC SAINT-JEAN SYNDROME; SLSJ SYNDROME		MPI
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL
#602722 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR;;RTA, DISTAL, AUTOSOMAL RECESSIVE;;RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PRESERVED HEARINGRENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSETSENSORINEURAL HEARING LOSS, INCLUDED		ATP6V0A4
RIGID SPINE MUSCULAR DYSTROPHY 1		SEPN1
#603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2;;HPLH2;;HLH2		PRF1
#603554 OMENN SYNDROME;;RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA;;SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA		RAG2 ; RAG1 ; DCLRE1C
ATPASE DEFICIENCY, NUCLEAR-ENCODED		ATPAF2
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1		IGHMBP2
#605039 BOHRING-OPITZ SYNDROME; BOPS;;C-LIKE SYNDROME;;OPITZ TRIGONOCEPHALY-LIKE SYNDROME;;BOHRING SYNDROME		ASXL1
#605130 HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTALDELAY;;WIEDEMANN-STEINER SYNDROME; WDSTS		KMT2A
#605711 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1;;MMDS		NFU1
#605724 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1;;FAD1		BRCA2
#605814 CITRULLINEMIA, TYPE II, NEONATAL-ONSET;;CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY; NICCD		SLC25A13
#606054 PROPIONIC ACIDEMIA;;PROPIONYL-COA CARBOXYLASE DEFICIENCY;;PCC DEFICIENCY;;GLYCINEMIA, KETOTIC;;HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA;;KETOTIC HYPERGLYCINEMIA		PCCB ; PCCA
#606407 HYPOTONIA-CYSTINURIA SYNDROME;;CYSTINURIA WITH MITOCHONDRIAL DISEASE;;HOMOZYGOUS 2P16 DELETION SYNDROME, FORMERLYHOMOZYGOUS 2P21 DELETION SYNDROME, INCLUDED
HOMOZYGOUS 11P15-P14 DELETION SYNDROME
#606812 FUMARASE DEFICIENCY;;FUMARIC ACIDURIA		FH
GLUCOSE/GALACTOSE MALABSORPTION		SLC5A1
CASPASE 8 DEFICIENCY		CASP8
#607655 SKIN FRAGILITY-WOOLLY HAIR SYNDROME; SFWHS		DSP
#607748 HYPERCHOLANEMIA, FAMILIAL; FHCA		TJP2 ; EPHX1 ; BAAT
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1		HSD3B7
#607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6;;MICROPHTHALMIA AND PITUITARY ANOMALIES;;MICROPHTHALMIA WITH BRAIN AND DIGIT DEVELOPMENTAL ANOMALIES;;ANOPHTHALMIA, CLINICAL, WITH MICROGNATHIA, MALFORMED EARS, DIGITALANOMALIES, AND ABNORMAL EXTERNAL GENITALIA		BMP4
%608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES
#608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE; CDG1E;;CDG IE; CDGIE		DPM1
608809 LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA;LACH
#609015 TRIFUNCTIONAL PROTEIN DEFICIENCY;;MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCYTRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY, INCLUDED		HADHB ; HADHA
AMISH INFANTILE EPILEPSY SYNDROME		ST3GAL5
CHROMOSOME 3Q29 DELETION SYNDROME
#609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMASYNDROME;;CEDNIK SYNDROME		SNAP29
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY		PNPO
#610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4; PEOA4;;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 4		POLG2
%610247 ESOPHAGITIS, EOSINOPHILIC, 1; EOE1;;ESOPHAGITIS, EOSINOPHILIC; EE
DIARRHEA 4, MALABSORPTIVE, CONGENITAL		NEUROG3
#610377 MEVALONIC ACIDURIA; MEVA		MVK
#610443 KOOLEN-DE VRIES SYNDROME; KDVS;;CHROMOSOME 17Q21.31 DELETION SYNDROME;;MICRODELETION 17Q21.31 SYNDROME		KANSL1
CHROMOSOME 16P13.3 DELETION SYNDROME
#610600 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY;;CMO II DEFICIENCY;;ALDOSTERONE DEFICIENCY II;;HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1; FHHA1B;;ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE;;STEROID 18-OXIDASE DEFICIENCY;;18-@OXIDASE DEFICIENCY		CYP11B2
610680 HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS
#610758 CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4		ERCC1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM		DOLK
#610883 POTOCKI-LUPSKI SYNDROME; PTLS;;CHROMOSOME 17P11.2 DUPLICATION SYNDROME
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2		SFTPC
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3		ABCA3
#611209 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIG; CDG2G;;CDG IIG; CDGIIG;;CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME		COG1
#611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6;;ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAINDEFECTS		RARS2
#611590 RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA;;RTA, DISTAL, AUTOSOMAL RECESSIVE, WITH HEMOLYTIC ANEMIARENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY, INCLUDED		SLC4A1
#612073 MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH METHYLMALONICACIDURIA); MTDPS5;;MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITHMETHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED		SUCLA2
#612075 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITHRENAL TUBULOPATHY); MTDPS8A;;MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENALTUBULOPATHY, AUTOSOMAL RECESSIVEMITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), INCLUDED; MTDP8B,INCLUDED;;MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED,INCLUDED;;MNGIE, RRM2B-RELATED, INCLUDED		RRM2B
#612541 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4DURSUN SYNDROME, INCLUDED;;PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT,INCLUDED		G6PC3
#612626 CHROMOSOME 15Q26-QTER DELETION SYNDROME;;DRAYER SYNDROME
MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR
#612714 EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIALHYPEROSTOSIS		COX4I2
%612726 HARDIKAR SYNDROME
#612740 PORPHYRIA, ACUTE HEPATIC;;DELTA-AMINOLEVULINATE DEHYDRATASE DEFICIENCY;;ALAD DEFICIENCY;;PORPHYRIA, ALAD;;PORPHOBILINOGEN SYNTHASE DEFICIENCY;;DOSS PORPHYRIALEAD POISONING, SUSCEPTIBILITY TO, INCLUDED		ALAD
#612782 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT1		ORAI1
#612938 GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLYDEATH; GDFD		FTO
#612940 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B;;CUTIS LAXA WITH PROGEROID FEATURES		PYCR1
%612946 HADZISELIMOVIC SYNDROME;;MICROCEPHALY-FACIOCARDIOSKELETAL SYNDROME
#613026 CHROMOSOME 19Q13.11 DELETION SYNDROME
#613090 BARTTER SYNDROME, TYPE 4B;;BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS		CLCNKA ; CLCNKB
#613179 PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY;;NUCLEOSIDE PHOSPHORYLASE DEFICIENCY		PNP
#613205 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED;;MDCL		LMNA
#613217 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5;;ENTEROPATHY, CONGENITAL TUFTING; CTE;;INTESTINAL EPITHELIAL CELL DYSPLASIA		EPCAM
#613327 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4;;BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 4, WITH MUSCULARDYSTROPHY;;LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 4, WITH MUSCULARDYSTROPHY		PTRF
#613404 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2		VIPAS39
%613412 ESOPHAGITIS, EOSINOPHILIC, 2; EOE2
#613457 CHROMOSOME 14Q11-Q22 DELETION SYNDROME
#613489 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ; CDG2J;;CDG IIJ; CDGIIJ		COG4
#613501 AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3;;AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT		CD79A
#613559 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7		C12ORF65
#613561 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2		YARS2
#613668 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY		MED17
HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY		AHCY
#613800 MEIER-GORLIN SYNDROME 2; MGORS2		ORC4
#613803 MEIER-GORLIN SYNDROME 3; MGORS3		ORC6
#613804 MEIER-GORLIN SYNDROME 4; MGORS4		CDT1
#613805 MEIER-GORLIN SYNDROME 5; MGORS5		CDC6
#613812 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3		CYP7B1
#613845 HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS;;HUPRA SYNDROME		SARS2
#613989 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2; DKCA2DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4, INCLUDED; DKCB4, INCLUDED
#614008 NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS;;PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS; PSCOO		BANF1
614044 TRYPSINOGEN DEFICIENCY		PRSS1
#614052 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2;MC5DN2;;MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE;;ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASEDEFICIENCY		TMEM70
#614096 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8;;CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE		AARS2
614098 KEPPEN-LUBINSKY SYNDROME; KPLBS
%614261 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP
#614300 HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY		ADK
#614388 ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMALFISSION; EMPF		DNM1L
#614399 MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET;EMARDDMYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET,MILD VARIANT, INCLUDED		MEGF10
%614407 MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECTSYNDROME; MCHCCD;;ZAKI-GLEESON SYNDROME
#614507 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR; CDG1R		DDOST
614520 ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY
#614541 CHROMOSOME 16Q22 DELETION SYNDROME
#614559 INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		ACO2
#614582 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		MRPL3
#614602 TRICHOHEPATOENTERIC SYNDROME 2; THES2		SKIV2L
614688 PONTINE TEGMENTAL CAP DYSPLASIA; PTCD
#614700 IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		LRBA
#614727 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK; CDG2K;;CDG IIK; CDGIIK		TMEM165
#614736 GLUCOCORTICOID DEFICIENCY 4; GCCD4		NNT
#614739 3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKESYNDROME; MEGDEL		SERAC1
#614883 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 13, INCLUDED;CG13, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP H, INCLUDED;CGH, INCLUDED		PEX13
#614924 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12;;LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGHLACTATE; LTBL		EARS2
#615057 BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME; BPIDS;;BPID SYNDROME;;BLEPHAROPHIMOSIS-PTOSIS-MENTAL RETARDATION SYNDROME		UBE3B
#615085 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8		SNX10
#615207 IL21R IMMUNODEFICIENCY		IL21R