Name		Synonyms
Abnormality of the cardiovascular system		Cardiovascular abnormality Cardiovascular disease

Primary ID		Alternative IDs
HP:0001626		no alternative IDs

Term definition
Any abnormality of the `cardiovascular system` (FMA:7161).

Super-classes (vis)		Sub-classes (vis)
Phenotypic abnormality		Abnormality of the heart ; Abnormality of cardiovascular system physiology ; Abnormality of the vasculature ; Syncope ; Abnormality of the fetal cardiovascular system

PURL-link
http://purl.obolibrary.org/obo/HP_0001626

Diseases / genes associated with this term

Disease		Gene(s)
NF1-MICRODELETION SYNDROME
22Q11 DELETION SYNDROME (VELOCARDIOFACIAL / DIGEORGE SYNDROME)
MILLER-DIEKER SYNDROME (MDS)
WILLIAMS-BEUREN SYNDROME (WBS)
8P23.1 DELETION SYNDROME
CAT-EYE SYNDROME (TYPE I)
9Q SUBTELOMERIC DELETION SYNDROME
15Q26 OVERGROWTH SYNDROME
AORTIC ANEURYSM, ABDOMINAL
ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY ANDCRYPTORCHIDISM		CHRM3
ADAMS-OLIVER SYNDROME		ARHGAP31
ACHONDROPLASIA		FGFR3
#101000 NEUROFIBROMATOSIS, TYPE II; NF2;;NEUROFIBROMATOSIS, CENTRAL TYPE;;ACOUSTIC SCHWANNOMAS, BILATERAL;;BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;;ACOUSTIC NEURINOMA, BILATERAL; ACN		NF2
APERT SYNDROME		FGFR2
#101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED		TWIST1 ; FGFR2
PITUITARY ADENOMA, GROWTH HORMONE-SECRETING		SSTR5 ; GNAS ; AIP
GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM		CYP11B1
ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS
#104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT		COL4A3
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM
AMYLOIDOSIS V		GSN
AMYLOIDOSIS VI		CST3
AMYLOIDOSIS, FAMILIAL VISCERAL		LYZ ; APOA1 ; FGA
#105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED;;HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED;;TRANSTHYRETIN AMYLOIDOSIS;;AMYLOID POLYNEUROPATHY, FAMILIAL; FAPAMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, INCLUDED;;AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED, INCLUDED		TTR
DIAMOND-BLACKFAN ANEMIA		RPS19
ANEURYSM, INTRACRANIAL BERRY, 1		ANIB1
ANEURYSM OF INTERVENTRICULAR SEPTUM
ANGIOMA, HEREDITARY NEUROCUTANEOUSSPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED
#106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE;;AEC SYNDROME;;HAY-WELLS SYNDROME		TP63
SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1
TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1		TAPVR1
TOWNES-BROCKS SYNDROME		SALL1
AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION
AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA
APOLIPOPROTEIN A-I		APOA1
APOLIPOPROTEIN B		APOB
APOLIPOPROTEIN E		APOE
#107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1; ARVC1UHL ANOMALY, INCLUDED;;CARDIOMYOPATHY, RIGHT VENTRICULAR DILATED, INCLUDED		TGFB3
ARTERIES, ANOMALIES OF
ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS
ARTHROGRYPOSIS MULTIPLEX CONGENITA
STICKLER SYNDROME, TYPE I		COL2A1
ATHEROSCLEROSIS SUSCEPTIBILITY		ATHS
ATRIAL STANDSTILL
ATRIAL SEPTAL DEFECT 1		ASD1
ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS		NKX2-5
ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL
AUROCEPHALOSYNDACTYLY
BASAL CELL NEVUS SYNDROME		PTCH1
BEHCET SYNDROME
#109730 AORTIC VALVE DISEASE 1; AOVD1;;AORTIC VALVE DISEASE;;BICUSPID AORTIC VALVE; BAV;;AORTIC VALVE, BICUSPID;;AORTIC VALVE, CALCIFICATION OF;;AORTIC STENOSIS, CALCIFIC		NOTCH1
%112200 BLUE RUBBER BLEB NEVUS;;BEAN SYNDROME
HYPERTENSION WITH BRACHYDACTYLY
BRACHYDACTYLY, LONG-THUMB TYPE
BRACHYDACTYLY, TYPE B1		ROR2
BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II
#113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A;;PFHBIA;;HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI;;LENEGRE-LEV DISEASE;;CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD;;BUNDLE BRANCH BLOCK;;HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBDHEART BLOCK, NONPROGRESSIVE, INCLUDED;;CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED		SCN5A
%113950 BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT
114065 CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL
%114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET
CAMPOMELIC DYSPLASIA		SOX9
114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME
CARDIAC ARRHYTHMIA
CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED
#115150 CARDIOFACIOCUTANEOUS SYNDROME;;CFC SYNDROME;;CFCS		MAP2K1 ; MAP2K2 ; KRAS ; BRAF
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2		TNNT2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3		TPM1
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4		MYBPC3
#115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CDCD1;;CARDIOMYOPATHY, IDIOPATHIC DILATED;;CARDIOMYOPATHY, FAMILIAL IDIOPATHIC;;CARDIOMYOPATHY, CONGESTIVE		LMNA
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1		TNNI3
CARDIOMYOPATHY-HYPOGONADISM-COLLAGENOMA SYNDROMECOLLAGENOMA, FAMILIAL CUTANEOUS, INCLUDED
#115310 PARAGANGLIOMAS 4; PGL4;;CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS;;PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA;;PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL;;PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL;;PARAGANGLIOMA, FAMILIAL MALIGNANT		SDHB
CAT EYE SYNDROME		CECR
CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION
#116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM;;CAVERNOUS ANGIOMA, FAMILIAL;;CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;;CEREBRAL CAPILLARY MALFORMATIONSCEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;;CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;;HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATEDWITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED		KRIT1
#117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME		NSD1
117650 CEREBROCOSTOMANDIBULAR SYNDROME;;CCM SYNDROME; CCMS;;RIB GAP DEFECTS WITH MICROGNATHIA
#118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1;;KFS;;CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT		GDF6
118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE
118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM
#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
CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL
COARCTATION OF AORTA
120440 COLONIC VARICES WITHOUT PORTAL HYPERTENSION
COMPLEMENT COMPONENT 4A		C4A
ARTHROGRYPOSIS, DISTAL, TYPE 9		FBN2
#121300 COPROPORPHYRIA, HEREDITARY; HCP;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;;CPOX DEFICIENCY;;CPO DEFICIENCY;;CPX DEFICIENCYHARDEROPORPHYRIA, INCLUDED		CPOX
122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION;;RAMOS-ARROYO SYNDROME
CORONARY ARTERY DISSECTION, SPONTANEOUS
#122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDLS;;CDL;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS		NIPBL
COSTOVERTEBRAL SEGMENTATION ANOMALIES
CRANIOACROFACIAL SYNDROME
CRI-DU-CHAT SYNDROME		CTNND2
%123550 CRYOGLOBULINEMIA, FAMILIAL MIXED;;MELTZER SYNDROME
#123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1		ELN
CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON		FGFR2
#124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1		BCS1L
CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2		CYP11B2
DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE
DEAFNESS-CRANIOFACIAL SYNDROME
#125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL		NOTCH3
CAYLER CARDIOFACIAL SYNDROME
126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS
DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL
EHLERS-DANLOS SYNDROME, TYPE I		COL5A2 ; COL5A1 ; COL1A1
EHLERS-DANLOS SYNDROME, TYPE II		COL5A1
#130020 EHLERS-DANLOS SYNDROME, TYPE III;;EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE;;EDS III;;EDS3;;BENIGN HYPERMOBILITY SYNDROME		TNXB ; COL3A1
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT		COL3A1
#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
130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED;;EDS, UNSPECIFIED TYPE;;EHLERS-DANLOS SYNDROME, FRIEDMAN-HARROD TYPE
#130650 BECKWITH-WIEDEMANN SYNDROME; BWS;;EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME;;EMG SYNDROME;;WIEDEMANN-BECKWITH SYNDROME; WBSBECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED; BWCR, INCLUDED		KCNQ1OT1 ; NSD1 ; CDKN1C ; H19
%130720 LATERAL MENINGOCELE SYNDROME;;LMS;;LEHMAN SYNDROME
#132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4;;FAA4;;AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS		MYH11
#133020 ERYTHERMALGIA, PRIMARY;;ERYTHROMELALGIA, PRIMARY;;ERYTHROMELALGIA, FAMILIALNEUROPATHY, SMALL FIBER, INCLUDED; SFNP, INCLUDED		SCN9A
#133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1;;POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;;ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN		JAK2 ; SH2B3
#133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; EKVP;;ERYTHROKERATODERMIA VARIABILIS; EKV;;ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC; PSEK;;ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES;;ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENSGREITHER DISEASE, INCLUDED;;KERATOSIS PALMOPLANTARIS TRANSGREDIENS ET PROGREDIENS, INCLUDED		GJB4 ; GJB3
COCKAYNE SYNDROME, TYPE B		ERCC6
133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY
#133780 EXUDATIVE VITREORETINOPATHY 1; EVR1;;EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;;FEVR, AUTOSOMAL DOMINANT;;CRISWICK-SCHEPENS SYNDROMERETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED		FZD4
COMPLEMENT FACTOR H		CFH
FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS
FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF
FACTOR XIII, A1 SUBUNIT		F13A1
FEMORAL-FACIAL SYNDROME
DESMOID DISEASE, HEREDITARY		APC
%135500 ZIMMERMANN-LABAND SYNDROME; ZLS;;LABAND SYNDROME;;FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE ANDEARS, AND SPLENOMEGALY
FIBROMUSCULAR DYSPLASIA OF ARTERIES
#135900 COFFIN-SIRIS SYNDROME; CSS;;FIFTH DIGIT SYNDROME
FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION ANDPROPORTIONATE SHORT STATURE
#136120 FISH-EYE DISEASE; FED;;DYSLIPOPROTEINEMIC CORNEAL DYSTROPHY;;ALPHA-LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY;;ALPHA-LCAT DEFICIENCY;;LCATA DEFICIENCY		LCAT
#136140 FLOATING-HARBOR SYNDROME; FLHS		SRCAP
FLYNN-AIRD SYNDROME
#136570 CHROMOSOME 16P12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16P12, INCLUDED		FRA16A
FRONTONASAL DYSPLASIA		ALX3
GASTROCUTANEOUS SYNDROME
GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA
GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES
%137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1;;GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;;LOBULAR GLOMERULOPATHY, FAMILIAL
GLUCOCORTICOID RECEPTOR		NR3C1
138770 GMS SYNDROME;;GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME
GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE		SMAD4
#140000 HAND-FOOT-UTERUS SYNDROME;;HFU SYNDROME;;HAND-FOOT-GENITAL SYNDROME;;HFG SYNDROME		HOXA13
%140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2;;PFHBII
140450 HEART-HAND SYNDROME, SPANISH TYPE
HEART, MALFORMATION OF
HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE
HEMANGIOMAS OF SMALL INTESTINE
HEMANGIOMA-THROMBOCYTOPENIA SYNDROME
HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS
#141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED;;ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE;;ATR-16 SYNDROME;;ATR, DELETION-TYPE;;HEMOGLOBIN H-RELATED MENTAL RETARDATION; HBHR;;MENTAL RETARDATION WITH HEMOGLOBIN H;;CHROMOSOME 16P DELETION SYNDROME
HEPARIN COFACTOR II		SERPIND1
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT		TNFRSF1A
#142900 HOLT-ORAM SYNDROME; HOS;;HOS1;;HEART-HAND SYNDROME;;ATRIODIGITAL DYSPLASIA		TBX5
#143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS;;HUMEROSPINAL DYSOSTOSIS; HSD;;SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE;;CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS; CDMD		CHST3
HYDROXYACYL-COA DEHYDROGENASE/3-KETOACYL-COA THIOLASE/ENOYL-COA HYDRATASE,BETA SUBUNIT		HADHB
#143470 HYPERALPHALIPOPROTEINEMIA 1; HALP1;;CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY;;CETP DEFICIENCYHIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS10, INCLUDED;;HDLCQ10, INCLUDED		CETP
ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE
#143880 HYPERCALCEMIA, INFANTILE;;HYPERCALCEMIA, IDIOPATHIC, OF INFANCY		CYP24A1
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT		LDLR ; EPHX2
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B		APOB
HYPERLIPIDEMIA, FAMILIAL COMBINED		LPL
HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS
HYPERLIPOPROTEINEMIA, TYPE II
HYPERLIPOPROTEINEMIA, TYPE IV
PSEUDOHYPOALDOSTERONISM, TYPE II
HYPERTAURINURIC CARDIOMYOPATHY
#145410 OPITZ GBBB SYNDROME, AUTOSOMAL DOMINANT;;OPITZ GBBB SYNDROME, TYPE II;;HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS;;G SYNDROME;;HYPOSPADIAS-DYSPHAGIA SYNDROME;;OPITZ-FRIAS SYNDROME;;OPITZ-G SYNDROME, TYPE II; OGS2;;TELECANTHUS WITH ASSOCIATED ABNORMALITIES;;BBB SYNDROME;;HYPERTELORISM-HYPOSPADIAS SYNDROME;;TELECANTHUS-HYPOSPADIAS SYNDROME;;OPITZ BBBG SYNDROME;;GBBB SYNDROME;;OPITZ OCULOGENITOLARYNGEAL SYNDROME, TYPE II;;CHROMOSOME 22Q11.2 DELETION SYNDROME, OPITZ PHENOTYPE
%145420 HYPERTELORISM, TEEBI TYPE;;BRACHYCEPHALOFRONTONASAL DYSPLASIA
HYPERTENSION, ESSENTIAL		AGTR1 ; PTGIS ; PNMT
#145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1;;MHS;;HYPERTHERMIA OF ANESTHESIA;;HYPERPYREXIA, MALIGNANT; MHKING SYNDROME, INCLUDED;;KING-DENBOROUGH SYNDROME, INCLUDED
HYPERTRIGLYCERIDEMIA, FAMILIAL
HYPOPARATHYROIDISM, FAMILIAL ISOLATED		GCM2 ; PTH ; CASR
#146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR;;HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME;HDRS;;BARAKAT SYNDROME;;NEPHROSIS, NERVE DEAFNESS, AND HYPOPARATHYROIDISM		GATA3
CHROMOSOME 18P DELETION SYNDROME
%146500 MULTIPLE SYSTEM ATROPHY; MSAAUTONOMIC FAILURE, PURE, INCLUDED;;HYPOTENSION, ORTHOSTATIC, INCLUDED
#146510 PALLISTER-HALL SYNDROME; PHS;;HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, ANDPOSTAXIAL POLYDACTYLY		GLI3
#147060 HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT;;HYPER-IGE SYNDROME, AUTOSOMAL DOMINANT;;HIES, AUTOSOMAL DOMINANT;;JOB SYNDROME		STAT3
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR FUSED INCISORS SINGLE UPPER CENTRAL INCISOR SINGLE CENTRAL MAXILLARY INCISOR SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME, INCLUDED SMMCI SYNDROME, INCLUDED		SHH
IVIC SYNDROME		SALL4
JOHNSON NEUROECTODERMAL SYNDROME
JACOBSEN SYNDROME		JBS
AASE-SMITH SYNDROME I
INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF
#147920 KABUKI SYNDROME 1; KABUK1;;KABUKI SYNDROME;;KABUKI MAKE-UP SYNDROME; KMS;;NIIKAWA-KUROKI SYNDROME		KMT2D
KALLMANN SYNDROME 2		FGFR1
#148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC;;KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER		TOC ; RHBDF2
#148820 WAARDENBURG SYNDROME, TYPE 3; WS3;;WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIES;;WAARDENBURG SYNDROME, TYPE III;;KLEIN-WAARDENBURG SYNDROME		PAX3
%149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME;;KTW SYNDROME;;KLIPPEL-TRENAUNAY SYNDROME; KTS;;ANGIOOSTEOHYPERTROPHY SYNDROME
#150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2;;LANGER-GIEDION SYNDROME; LGS;;CHROMOSOME 8Q24.1 DELETION SYNDROME
LAMININ, BETA-1		LAMB1
#150250 LARSEN SYNDROME; LRS		FLNB
LARYNX, CONGENITAL PARTIAL ATRESIA OF
LARYNGEAL WEB, FAMILIAL
150590 LEG ULCERS, FAMILIAL, OF JUVENILE ONSET
151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
LEOPARD SYNDROME 1		PTPN11
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2		LMNA
LIPASE, HEPATIC		LIPC
APOLIPOPROTEIN(A)		LPA
POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2		KCNH2
LOBULAR GLOMERULOPATHY, FAMILIAL
SYSTEMIC LUPUS ERYTHEMATOSUS		TREX1
%152800 LYMPHANGIECTASIA, INTESTINAL
LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY
#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS		KIF11
LYMPHEDEMA, HEREDITARY, IA		FLT4
%153300 YELLOW NAIL SYNDROME;;YNS;;LYMPHEDEMA AND YELLOW NAILS
#153400 LYMPHEDEMA-DISTICHIASIS SYNDROME;;LYMPHEDEMA WITH DISTICHIASISLYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS,INCLUDED		FOXC2
#153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS;;BANNAYAN-ZONANA SYNDROME; BZS;;RILEY-SMITH SYNDROME;;RUVALCABA-MYHRE-SMITH SYNDROME; RMSS;;MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA;;MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA		PTEN
FECHTNER SYNDROME		MYH9
EPSTEIN SYNDROME		MYH9
ACROFACIAL DYSOSTOSIS 1, NAGER TYPE		AFD1 ; SF3B4
#154500 TREACHER COLLINS SYNDROME 1; TCS1;;TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF;;TREACHER COLLINS SYNDROME; TCS;;MANDIBULOFACIAL DYSOSTOSIS; MFD1		TCOF1
#154700 MARFAN SYNDROME; MFS;;MARFAN SYNDROME, TYPE I; MFS1		FBN1
154750 MARFANOID HYPERMOBILITY SYNDROME
#155100 MAY-HEGGLIN ANOMALY; MHA;;BLEEDING DISORDER, PLATELET-TYPE, 6; BDPLT6;;DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS;;MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS		MYH9
%155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL;;VISCERAL MYOPATHY, FAMILIAL
%155950 MELORHEOSTOSIS, ISOLATED;;MEL		LEMD3
METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA
SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS
156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD
MITRAL VALVE PROLAPSE, FAMILIAL		MMVP1
MITRAL REGURGITATION, CONDUCTIVE DEAFNESS, AND FUSION OF CERVICALVERTEBRAE AND OF CARPAL AND TARSAL BONES
#158170 CHROMOSOME 9P DELETION SYNDROME;;MONOSOMY 9P SYNDROME
%158310 MUCOEPITHELIAL DYSPLASIA, HEREDITARY;;HMD
#158350 COWDEN DISEASE; CD;;COWDEN SYNDROME; CS;;MULTIPLE HAMARTOMA SYNDROME; MHAMDYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED;;CEREBELLOPARENCHYMAL DISORDER VI, INCLUDED; CPD6, INCLUDED;;CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY, INCLUDED;;LHERMITTE-DUCLOS DISEASE, INCLUDED; LDD, INCLUDED;;PROTEUS-LIKE SYNDROME, INCLUDED		PTEN
#158810 BETHLEM MYOPATHY;;MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES;;MUSCULAR DYSTROPHY, BENIGN CONGENITAL		COL6A1 ; COL6A2 ; COL6A3
#158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1;;MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1;;FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FSHD; FMD;;MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1A; FSHD1A;;LANDOUZY-DEJERINE MUSCULAR DYSTROPHYFACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE, INCLUDED;;FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS ANDTORTUOSITY OF RETINAL ARTERIOLES, INCLUDED		FSHMD1A
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B		LMNA
#160500 MYOPATHY, DISTAL, 1; MPD1;;MYOPATHY, LATE DISTAL HEREDITARY;;LAING DISTAL MYOPATHY;;MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT		MYH7
#160900 MYOTONIC DYSTROPHY 1; DM1;;DYSTROPHIA MYOTONICA 1;;DYSTROPHIA MYOTONICA; DM;;STEINERT DISEASE		DMPK
#160980 CARNEY COMPLEX, TYPE 1; CNC1;;CARNEY MYXOMA-ENDOCRINE COMPLEX;;CARNEY SYNDROME; CAR;;MYXOMA, SPOTTY PIGMENTATION, AND ENDOCRINE OVERACTIVITY;;NAME SYNDROME;;LAMB SYNDROME		PRKAR1A
NAIL-PATELLA SYNDROME		LMX1B
NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT
%161900 RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION; RFH1;;NEPHROPATHY, FAMILIAL;;NEPHRITIS, FAMILIAL, WITHOUT DEAFNESS OR OCULAR DEFECT;;RENAL FAILURE, ADULT-ONSET; AORF
#162200 NEUROFIBROMATOSIS, TYPE I; NF1;;NEUROFIBROMATOSIS, PERIPHERAL TYPE;;VON RECKLINGHAUSEN DISEASE		NF1
NEVI FLAMMEI, FAMILIAL MULTIPLE
NEVUS FLAMMEUS OF NAPE OF NECK
#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY		HRAS ; KRAS
SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT		HCN4
#163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED		PTPN11
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME
HEMIFACIAL MICROSOMIA
FEINGOLD SYNDROME		MYCN
164330 ODONTOMA-DYSPHAGIA SYNDROME
ENCHONDROMATOSIS, MULTIPLE
OSTEOGENESIS IMPERFECTA, TYPE I		COL1A1
OSTEOGENESIS IMPERFECTA, TYPE IIA		COL1A2 ; COL1A1
OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH
OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH NEPHROPATHY		MAFB
BUSCHKE-OLLENDORFF SYNDROME		LEMD3
OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA,HYDROCEPHALUS, AND HYPERTENSION
PACMAN DYSPLASIA
PAROXYSMAL EXTREME PAIN DISORDER		SCN9A
167850 PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE
PARAGANGLIOMAS 1		SDHD
#168605 PERRY SYNDROME;;PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION		DCTN1
CHAR SYNDROME		TFAP2B
PELGER-HUET ANOMALY		LBR
LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT		LMNB1
#170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS;;ANDERSEN SYNDROME;;LONG QT SYNDROME 7; LQT7;;PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE;;ANDERSEN-TAWIL SYNDROME; ATS		KCNJ2
HYPERKALEMIC PERIODIC PARALYSIS		SCN4A
+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
PHEOCHROMOCYTOMA		RET ; KIF1B ; SDHD ; SDHB ; VHL
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA		RET
PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME
PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA
+173470 INTEGRIN, BETA-3; ITGB3;;PLATELET GLYCOPROTEIN IIIA; GP3A;;GP IIIA;;PLATELET FIBRINOGEN RECEPTOR, BETA SUBUNIT;;CD61THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE, INCLUDED; NAIT, INCLUDED;;POSTTRANSFUSION PURPURA, INCLUDED; PTP, INCLUDED		ITGB3
%173800 POLAND SYNDROME;;POLAND SYNDACTYLY;;POLAND ANOMALY;;POLAND SEQUENCEPECTORALIS MUSCLE, ABSENCE OF, INCLUDED
POLYCYSTIC KIDNEYS		PKD1
POLYCYSTIC KIDNEY DISEASE 2		PKD2
MEDULLARY CYSTIC KIDNEY DISEASE 1		MCKD1
POLYCYSTIC LIVER DISEASE		PRKCSH ; SEC63
#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
#175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;JPHT;;JP/HHT SYNDROME;;JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;;JPS/HHT;;TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;;POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION		SMAD4
#175200 PEUTZ-JEGHERS SYNDROME; PJS;;POLYPOSIS, HAMARTOMATOUS INTESTINAL;;POLYPS-AND-SPOTS SYNDROME		STK11
175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES;;CRONKHITE-CANADA SYNDROME
#175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS;;POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE		GLI3
PORENCEPHALY, FAMILIAL		COL4A1
#176000 PORPHYRIA, ACUTE INTERMITTENT;;AIP;;PORPHYRIA, SWEDISH TYPE;;PORPHOBILINOGEN DEAMINASE DEFICIENCY;;PBGD DEFICIENCY;;UROPORPHYRINOGEN SYNTHASE DEFICIENCY;;UPS DEFICIENCYPORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, INCLUDED;;PORPHYRIA, CHESTER TYPE, INCLUDED; PORC, INCLUDED		HMBS
PORPHYRIA VARIEGATA		PPOX
POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1		KCNE1
HUTCHINSON-GILFORD PROGERIA SYNDROME		LMNA
176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI;;MULVIHILL-SMITH SYNDROME
#176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED		AKT1
LIDDLE SYNDROME		SCNN1G ; SCNN1B
%177720 PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK;;PSHK1;;PSEUDOHYPERKALEMIA EDINBURGHPSEUDOHYPERKALEMIA CHISWICK, INCLUDED;;PSEUDOHYPERKALEMIA FALKIRK, INCLUDED
#177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A;;PHA I, AUTOSOMAL DOMINANT		NR3C2
PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED		ABCC6
#177980 PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES;;HASPESLAGH SYNDROME
PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT
PULMONARY EDEMA OF MOUNTAINEERS
#178500 PULMONARY FIBROSIS, IDIOPATHIC; IPF;;IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL;;FIBROSING ALVEOLITIS, CRYPTOGENIC;;FIBROCYSTIC PULMONARY DYSPLASIAINTERSTITIAL PNEUMONITIS, USUAL, INCLUDED; UIP, INCLUDED;;HAMMAN-RICH DISEASE, INCLUDED		SFTPA2
PULMONARY HEMOSIDEROSIS
#178600 PULMONARY HYPERTENSION, PRIMARY, 1; PPH1;;PHT;;PULMONARY ARTERIAL HYPERTENSION; PAHPULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED;;PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED, INCLUDED;;PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA,INCLUDED;;PPH1 WITH HHT, INCLUDED		SMAD9 ; BMPR2
PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHICABNORMALITIES
PULMONIC STENOSIS AND DEAFNESS
#179613 RECOMBINANT CHROMOSOME 8 SYNDROME;;REC8 SYNDROME;;CHROMOSOME 8Q22.1-QTER DUPLICATION AND 8PTER-P23.1 DELETION;;SAN LUIS VALLEY SYNDROME
RETINAL ARTERIES, TORTUOSITY OF
180080 RETINAL VENOUS BEADING
#180200 RETINOBLASTOMA; RB1;;RB		RB1
RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT
RHEUMATOID ARTHRITIS
ROBINOW SYNDROME, AUTOSOMAL DOMINANT		WNT5A
#180849 RUBINSTEIN-TAYBI SYNDROME 1; RSTS1;;RUBINSTEIN SYNDROME;;BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION;;BROAD THUMB-HALLUX SYNDROME		CREBBP
#180860 SILVER-RUSSELL SYNDROME; SRS;;RUSSELL-SILVER SYNDROME; RSS;;SILVER-RUSSELL DWARFISM		RSS ; H19
%181270 SCALP-EAR-NIPPLE SYNDROME;;FINLAY-MARKS SYNDROME;;SEN SYNDROME
#181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2;;EMD2;;EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT;;SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY;;MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMALDOMINANT;;HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHYEMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE,INCLUDED;;EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE, INCLUDED;EDMD3, INCLUDED		LMNA
#181450 ULNAR-MAMMARY SYNDROME; UMS;;PALLISTER ULNAR-MAMMARY SYNDROME;;SCHINZEL SYNDROME		TBX3
%181750 SCLERODERMA, FAMILIAL PROGRESSIVE;;SYSTEMIC SCLEROSIS, SUSCEPTIBILITY TOCREST SYNDROME, INCLUDED
SINUS NODE DISEASE AND MYOPIA
SHPRINTZEN OMPHALOCELE SYNDROME
#182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS;;CRANIOSYNOSTOSIS WITH ARACHNODACTYLY AND ABDOMINAL HERNIAS;;MARFANOID DISORDER WITH CRANIOSYNOSTOSIS, TYPE I;;MARFANOID CRANIOSYNOSTOSIS SYNDROME		SKI
#182230 SEPTOOPTIC DYSPLASIA;;DE MORSIER SYNDROMEPITUITARY HORMONE DEFICIENCY, COMBINED, 5, INCLUDED; CPHD5, INCLUDED;;GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, INCLUDED		HESX1
%182250 SINGLETON-MERTEN SYNDROME
#182290 SMITH-MAGENIS SYNDROME; SMS;;CHROMOSOME 17P11.2 DELETION SYNDROMESMITH-MAGENIS CHROMOSOME REGION, INCLUDED; SMCR, INCLUDED		RAI1
SNEDDON SYNDROME
SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, ANDPROGRESSIVE NEPHROPATHY
SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA
SPLIT-HAND/FOOT MALFORMATION 1		SHFM1
183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATICDEFECTS
SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE
184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA;;GOLDBLATT SYNDROME;;ODONTOCHONDRODYSPLASIA; ODCD
184705 STEINFELD SYNDROME
STERNUM, PREMATURE OBLITERATION OF SUTURES OF
%184850 STIFF-PERSON SYNDROME; SPS;;STIFF-MAN SYNDROME;;STIFF-TRUNK SYNDROMEPROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY, INCLUDED; PERM, INCLUDED;PER, INCLUDED
STORM SYNDROME
SHORT STATURE - WORMIAN BONES - DEXTROCARDIA
STURGE-WEBER SYNDROME
SUPRAVALVULAR AORTIC STENOSIS		ELN
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES		NOD2
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER		ENG
TEMPORAL ARTERITIS
TETRALOGY OF FALLOT		ZFPM2 ; GDF1 ; GATA6 ; TBX1 ; JAG1 ; NKX2-5
TETRALOGY OF FALLOT AND GLAUCOMA
THANATOPHORIC DYSPLASIA, TYPE I		FGFR3
THROMBOCYTHEMIA, ESSENTIAL		THPO ; SH2B3
THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE
THUMB DEFORMITY
#188400 DIGEORGE SYNDROME; DGS;;CHROMOSOME 22Q11.2 DELETION SYNDROME;;HYPOPLASIA OF THYMUS AND PARATHYROIDS;;THIRD AND FOURTH PHARYNGEAL POUCH SYNDROMEDIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED;;TAKAO VCF SYNDROME, INCLUDED;;CATCH22, INCLUDED		DGCR ; TBX1
TIBIA, ABSENCE OF, WITH POLYDACTYLY
PREECLAMPSIA/ECLAMPSIA 1		PEE1
THYROID HORMONE RECEPTOR, BETA		THRB
TRIOSEPHOSPHATE ISOMERASE 1		TPI1
DOWN SYNDROMETRISOMY 21, INCLUDED		GATA1 ; DCR
#191100 TUBEROUS SCLEROSIS 1; TSC1;;TUBEROUS SCLEROSIS COMPLEX; TSC;;TUBEROSE SCLEROSIS; TS		TSC1
INFLAMMATORY BOWEL DISEASE 11
RENAL ADYSPLASIA		UPK3A ; RET ; PAX2
#191900 MUCKLE-WELLS SYNDROME; MWS;;URTICARIA-DEAFNESS-AMYLOIDOSIS SYNDROME;;UDA SYNDROME;;CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 2; CAPS2		NLRP3
192050 UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERALHEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS
VARICOSE VEINS
VASCULITIS, LYMPHOCYTIC, NODULAR
#192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA		TREX1
#192350 VATER ASSOCIATIONVACTERL ASSOCIATION, INCLUDED		HOXD13
#192430 VELOCARDIOFACIAL SYNDROME;;CHROMOSOME 22Q11.2 DELETION SYNDROME;;VCF SYNDROME; VCFS;;SHPRINTZEN VCF SYNDROME		TBX1
VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE
#192500 LONG QT SYNDROME 1; LQT1;;WARD-ROMANO SYNDROME; WRS;;ROMANO-WARD SYNDROME; RWS;;VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVALLONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED		KCNQ1
#192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1;;CMH;;VENTRICULAR HYPERTROPHY, HEREDITARY;;ASYMMETRIC SEPTAL HYPERTROPHY; ASH;;HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC		SLC25A4 ; MYH7 ; CAV3 ; MYLK2
#192605 VENTRICULAR TACHYCARDIA, FAMILIAL;;VENTRICULAR TACHYCARDIA, FAMILIAL POLYMORPHIC		GNAI2
VENULAR INSUFFICIENCY, SYSTEMIC
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT		FGF23
VITREORETINOCHOROIDOPATHY		BEST1
VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY		VRNI
#193300 VON HIPPEL-LINDAU SYNDROME; VHLVON HIPPEL-LINDAU SYNDROME, MODIFIERS OF, INCLUDED		VHL
#193400 VON WILLEBRAND DISEASE, TYPE 1; VWD1;;VON WILLEBRAND DISEASE, TYPE I;;VWD, TYPE 1		VWF
#193500 WAARDENBURG SYNDROME, TYPE 1; WS1;;WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM		PAX3
WATSON SYNDROME		NF1
#194050 WILLIAMS-BEUREN SYNDROME; WBS;;CHROMOSOME 7Q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB;;WILLIAMS SYNDROME; WMS; WS
#194080 DENYS-DRASH SYNDROME; DDS;;DRASH SYNDROME;;WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM;;NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES		WT1
#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4P16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME		WHCR
WOLFF-PARKINSON-WHITE SYNDROME		PRKAG2
#200150 CHOREOACANTHOCYTOSIS; CHAC;;LEVINE-CRITCHLEY SYNDROME;;ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER;;NEUROACANTHOCYTOSIS;;CHOREA-ACANTHOCYTOSIS		VPS13A
#200600 ACHONDROGENESIS, TYPE IA; ACG1A;;ACHONDROGENESIS, HOUSTON-HARRIS TYPE		TRIP11
ACHONDROGENESIS, TYPE II		COL2A1
ACRORENAL-MANDIBULAR SYNDROME
#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
#201000 CARPENTER SYNDROME;;ACROCEPHALOPOLYSYNDACTYLY TYPE II;;ACPS II		RAB23
ACROCRANIOFACIAL DYSOSTOSIS
%201170 ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ;;RODRIGUEZ LETHAL ACROFACIAL DYSOSTOSIS SYNDROME
ACYL-COA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF
ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF		ACADS
ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF		ACADVL
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY		CYP21A2
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASEDEFICIENCY		CYP11B1
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY		CYP17A1
AFIBRINOGENEMIA, CONGENITALHYPOFIBRINOGENEMIA, CONGENITAL, INCLUDED		FGB ; FGA
#202650 AGNATHIA-OTOCEPHALY COMPLEX; AGOTC;;DYSGNATHIA COMPLEX AGNATHIA-HOLOPROSENCEPHALY;;HOLOPROSENCEPHALY-AGNATHIA;;OTOCEPHALY		PRRX1
#203300 HERMANSKY-PUDLAK SYNDROME 1; HPS1;;ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIALCELLS;;DELTA STORAGE POOL DISEASE		HPS1
#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
ALKAPTONURIA		HGD
#203780 ALPORT SYNDROME, AUTOSOMAL RECESSIVE		COL4A4 ; COL4A3
#203800 ALSTROM SYNDROME; ALMS;;ALSS		ALMS1
#205400 TANGIER DISEASE; TGD;;HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 1; HDLDT1;;HIGH DENSITY LIPOPROTEIN DEFICIENCY, TANGIER TYPE;;ANALPHALIPOPROTEINEMIA		ABCA1
%206570 ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT;;DIVRY-VAN BOGAERT SYNDROME
ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY		PAX6
MICROPHTHALMIA, SYNDROMIC 3		SOX2
#206920 MICROPHTHALMIA WITH LIMB ANOMALIES;;WAARDENBURG ANOPHTHALMIA SYNDROME;;ANOPHTHALMIA-SYNDACTYLY;;OPHTHALMOACROMELIC SYNDROME; OAS		SMOC1
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS		FGFR2
TAKAYASU ARTERITIS
APHALANGY WITH HEMIVERTEBRAE
APROSENCEPHALY SYNDROME
#208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1;;GACI;;IDIOPATHIC INFANTILE ARTERIAL CALCIFICATION; IIAC;;ARTERIAL CALCIFICATION, IDIOPATHIC INFANTILE;;ARTERIOPATHY, OCCLUSIVE INFANTILECORONARY SCLEROSIS, MEDIAL, OF INFANCY, INCLUDED		ENPP1
#208050 ARTERIAL TORTUOSITY SYNDROME; ATS;;ARTERIAL TORTUOSITY		SLC2A10
ARTERIOSCLEROSIS, SEVERE JUVENILE
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS		VPS33B
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE		AMCN
ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME		PRG4
#208400 ASPARTYLGLUCOSAMINURIA; AGU;;GLYCOSYLASPARAGINASE DEFICIENCY;;ASPARTYLGLUCOSAMINIDASE DEFICIENCY;;AGA DEFICIENCY;;GLYCOASPARAGINASE;;ASPARTYLGLYCOSAMINURIA		AGA
%208500 ASPHYXIATING THORACIC DYSTROPHY 1; ATD1;;JEUNE SYNDROME;;THORACIC-PELVIC-PHALANGEAL DYSTROPHY		ATD
ASPLENIA WITH CARDIOVASCULAR ANOMALIES
#208540 RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD		NPHP3
ATAXIA, DEAFNESS, AND CARDIOMYOPATHY
#208900 ATAXIA-TELANGIECTASIA; AT;;AT1;;LOUIS-BAR SYNDROMEAT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED;;AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED;;AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED;;AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED;;ATAXIA-TELANGIECTASIA VARIANT, INCLUDED		ATM
ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLYDEATH
ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS,PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE
ATRANSFERRINEMIA		TF
ATRIOVENTRICULAR DISSOCIATION
ATROPHODERMIA VERMICULATA
AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION
#209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS;;AUTONOMIC CONTROL, CONGENITAL FAILURE OF ONDINE CURSE, CONGENITALONDINE-HIRSCHSPRUNG DISEASE, INCLUDED; OHD, INCLUDED;;CCHS WITH HIRSCHSPRUNG DISEASE, INCLUDED;;HADDAD SYNDROME, INCLUDED		BDNF ; RET ; ASCL1 ; PHOX2B ; EDN3 ; GDNF
BARDET-BIEDL SYNDROME		MKKS ; WDPCP ; BBS5 ; TRIM32 ; BBS1 ; BBS2 ; ARL6 ; BBS4 ; CEP290 ; BBS12 ; MKS1 ; BBS10 ; BBS7 ; BBS9 ; TTC8
BEEMER LETHAL MALFORMATION SYNDROME
BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION
#210250 SITOSTEROLEMIA;;STSL;;PHYTOSTEROLEMIAMACROTHROMBOCYTOPENIA/STOMATOCYTOSIS, MEDITERRANEAN, INCLUDED		ABCG8 ; ABCG5
#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
#210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II		PCNT
BORRONE DERMATOCARDIOSKELETAL SYNDROME
BOWEN-CONRADI SYNDROME		EMG1
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS
BUERGER DISEASE
#211750 C SYNDROME;;OPITZ TRIGONOCEPHALY SYNDROME;;TRIGONOCEPHALY SYNDROME		CD96
#211800 CALCIFICATION OF JOINTS AND ARTERIES; CALJA		NT5E
%211890 CAMPOMELIA, CUMMING TYPE;;CERVICAL LYMPHOCELE WITH BOWED LONG BONES;;CUMMING SYNDROME
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL		KL ; GALNT3 ; FGF23
CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA
%211960 CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMALPALMAR CREASES;;TEL HASHOMER CAMPTODACTYLY SYNDROME
#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
CARDIAC LIPIDOSIS, FAMILIAL
CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA
CARDIAC VALVULAR DEFECT, DEVELOPMENTAL
CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS
CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE
#212112 CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM;;MALOUF SYNDROME;;CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM;;CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE;;CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE;;NAJJAR SYNDROME;;GENITAL ANOMALY WITH CARDIOMYOPATHY;;CARDIOGENITAL SYNDROME		LMNA
CARDIOGENITAL SYNDROME
CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH
CARDIOSKELETAL SYNDROME, KUWAITI TYPE
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY		SLC25A20
#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
#212350 SENGERS SYNDROME;;MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE); MTDPS10;;CARDIOMYOPATHY AND CATARACT		AGK
#212720 MARTSOLF SYNDROME;;CATARACT-MENTAL RETARDATION-HYPOGONADISM		RAB3GAP2
%213200 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2;;CEREBELLAR HYPOPLASIA, NONPROGRESSIVE NORMAN TYPE;;CEREBELLAR GRANULAR CELL HYPOPLASIA AND MENTAL RETARDATION, CONGENITAL;;CEREBELLOPARENCHYMAL DISORDER III;;CPD III; CPD3		SCAR2
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1		IBGC1
CEREBROTENDINOUS XANTHOMATOSIS		CYP27A1
%213980 CEREBROFACIOTHORACIC DYSPLASIA
#214100 ZELLWEGER SYNDROME; ZS;;CEREBROHEPATORENAL SYNDROME;;CHR SYNDROME;;ZWS		PEX1
CEREBROHEPATORENAL SYNDROME, VARIANT TYPES		PEX5
KLIPPEL-FEIL SYNDROME, AUTOSOMAL RECESSIVE		MEOX1
CHEDIAK-HIGASHI SYNDROME		LYST
#214700 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1;;CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE;;CHLORIDORRHEA, CONGENITAL		SLC26A3
#214800 CHARGE SYNDROME;;CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION,GENITAL AND EAR ANOMALIES;;HALL-HITTNER SYNDROME; HHS		SEMA3E ; CHD7
CHOLESTASIS-LYMPHEDEMA SYNDROME		LCS1
#215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA;;HEM SKELETAL DYSPLASIA;;GREENBERG DYSPLASIA;;CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE;;MOTH-EATEN SKELETAL DYSPLASIA		LBR
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA		COL2A1 ; COL11A2
CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME
CIRCUMVALLATE PLACENTA SYNDROME
#215700 CITRULLINEMIA, CLASSIC;;CITRULLINEMIA, TYPE I; CTLN1;;CITRULLINURIA;;ARGININOSUCCINATE SYNTHETASE DEFICIENCY;;ASS DEFICIENCY		ASS1
CLEFT-LIMB-HEART MALFORMATION SYNDROME
%216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTALAPHALANGIA;;YUNIS-VARON SYNDROME
#216360 COACH SYNDROME;;CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULARCOLOBOMA, AND HEPATIC FIBROSIS;;JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS		TMEM67 ; RPGRIP1L ; CC2D2A
COCKAYNE SYNDROME, TYPE A		ERCC8
216411 COCKAYNE SYNDROME, TYPE III;;CS, TYPE C
#216550 COHEN SYNDROME; COH1;;HYPOTONIA, OBESITY, AND PROMINENT INCISORS;;PEPPER SYNDROME;;CHS1, FORMERLY		VPS13B
CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY
PLASMINOGEN DEFICIENCY, TYPE ILIGNEOUS CONJUNCTIVITIS, INCLUDED		PLG
#217095 CONOTRUNCAL HEART MALFORMATIONS; CTHMTRUNCUS ARTERIOSUS COMMUNIS, INCLUDED;;CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED; CAFS, INCLUDED;;DOUBLE-OUTLET RIGHT VENTRICLE, INCLUDED; DORV, INCLUDED;;PERSISTENT TRUNCUS ARTERIOSUS, INCLUDED; PTA, INCLUDED;;INTERRUPTED AORTIC ARCH, INCLUDED		GDF1 ; GATA6 ; NKX2-6 ; TBX1 ; NKX2-5 ; CFC1
%217100 CONSTRICTING BANDS, CONGENITAL;;AMNIOTIC BAND SEQUENCE; ABS;;STREETER ANOMALYADAM COMPLEX, INCLUDED;;TERMINAL TRANSVERSE DEFECTS OF ARM, INCLUDED;;AMPUTATION, CONGENITAL, INCLUDED
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE
%217990 CORPUS CALLOSUM, AGENESIS OF;;ACC
#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
CRANIOECTODERMAL DYSPLASIA		IFT122
#218340 TEMTAMY SYNDROME; TEMTYS;;MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULARCOLOBOMA, OR ABNORMAL CORPUS CALLOSUM		C12ORF57
218350 CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE;;BILATERAL LAMBDOID AND SAGITTAL SYNOSTOSIS; BLSS
CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY,AND MANDIBULAR ANKYLOSIS
BALLER-GEROLD SYNDROME		RECQL4
218649 CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG
#218700 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2;;THYROID DYSGENESIS;;THYROID AGENESIS;;THYROID HYPOPLASIA;;THYROID, ECTOPIC;;HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS;;HYPOTHYROIDISM, ATHYREOTIC;;ATHYREOTIC HYPOTHYROIDISM;;RESISTANCE TO THYROTROPIN; RTSH;;THYROTROPIN RESISTANCE		PAX8
FRASER SYNDROME		FRAS1 ; FREM2
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA		GNAS
PITUITARY ADENOMA, ACTH-SECRETING		AIP
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I		FBLN5
CUTIS MARMORATA TELANGIECTATICA CONGENITA
CYSTIC FIBROSIS		CFTR
CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTICANEMIA, AND SUBNORMAL MENTALITY
MITOCHONDRIAL COMPLEX IV DEFICIENCY		COX6B1 ; COX14 ; FASTKD2 ; COA5
%220200 DANDY-WALKER SYNDROME; DWSDANDY-WALKER MALFORMATION, INCLUDED; DWM, INCLUDED		DWS
DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT
JERVELL AND LANGE-NIELSEN SYNDROME		KCNQ1
%220500 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, AND MENTAL RETARDATIONSYNDROME;;DOOR SYNDROME;;DIGITORENOCEREBRAL SYNDROME;;DRC SYNDROME;;BRACHYDACTYLY DUE TO ABSENCE OF DISTAL PHALANGES;;ERONEN SYNDROME
DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL ANDPROGRESSIVE SENSORY NEUROPATHY
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA
#222300 WOLFRAM SYNDROME 1; WFS1;;WFS;;DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS; DIDMOAD		WFS1
#222448 DONNAI-BARROW SYNDROME;;FACIOOCULOACOUSTICORENAL SYNDROME;;DBS/FOAR SYNDROME;;DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM,MYOPIA, SENSORINEURAL DEAFNESS, AND PROTEINURIA		LRP2
#222470 TRICHOHEPATOENTERIC SYNDROME 1; THES1;;THE SYNDROME;;DIARRHEA, SYNDROMIC;;DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA		TTC37
DIASTROPHIC DYSPLASIA		SLC26A2
DK PHOCOMELIA SYNDROME
DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL		DBH
%223370 DUBOWITZ SYNDROME
DUODENAL ATRESIA
#223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3;;HSAN III;;DYSAUTONOMIA, FAMILIAL; DYS; FD;;RILEY-DAY SYNDROME		IKBKAP
%224300 DYSOSTEOSCLEROSIS
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE		HSPG2
224700 EBSTEIN ANOMALY
EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTINABNORMALITY
EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM		COL1A2
#225400 EHLERS-DANLOS SYNDROME, TYPE VI; EDS6;;EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE;;EDS VI;;EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE;;EHLERS-DANLOS SYNDROME, TYPE VIA, FORMERLY; EDS6A, FORMERLY		PLOD1
ELLIS-VAN CREVELD SYNDROME		EVC2 ; EVC
ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY,AND CATARACTS
ENDOCARDIAL FIBROELASTOSIS
ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA
226150 ENTEROCOLITIS
ENTEROPATHY, PROTEIN-LOSING
#226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB;;DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE;;EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATAVARIANT, INCLUDED;;EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE, INCLUDED		COL7A1
CELIAC DISEASE, EPILEPSY AND CEREBRAL CALCIFICATION SYNDROME
EPILEPSY-TELANGIECTASIA
ETHANOLAMINOSIS
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS
FACIOCARDIOMELIC DYSPLASIA, LETHAL
227280 FACIOCARDIORENAL SYNDROME;;EASTMAN-BIXLER SYNDROME
#227500 FACTOR VII DEFICIENCY;;F7 DEFICIENCY;;HYPOPROCONVERTINEMIA		F7
#227600 FACTOR X DEFICIENCY;;F10 DEFICIENCY;;STUART-PROWER FACTOR DEFICIENCY		F10
#227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC;;FACC; FAC;;FANCONI PANCYTOPENIA, TYPE 3; FA3		FANCC
#227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2;;FAD2;;FANCONI ANEMIA, COMPLEMENTATION GROUP D; FANCD; FACD;;FANCONI PANCYTOPENIA, TYPE 4; FA4		FANCD2
#227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA;;FANCONI ANEMIA; FAFANCONI ANEMIA, ESTREN-DAMESHEK VARIANT, INCLUDED;;ESTREN-DAMESHEK VARIANT OF FANCONI ANEMIA, INCLUDED;;ESTREN-DAMESHEK VARIANT OF FANCONI PANCYTOPENIA, INCLUDED		FANCA
FATTY METAMORPHOSIS OF VISCERA
#228520 FIBROCHONDROGENESIS 1; FBCG1		COL11A1
FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES
BRITTLE CORNEA SYNDROME		ZNF469
FRASER-LIKE SYNDROME
#229300 FRIEDREICH ATAXIA 1; FRDA;;FRDA1;;FAFRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED		FXN
229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA
#229600 FRUCTOSE INTOLERANCE, HEREDITARY;;FRUCTOSEMIA;;FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY;;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY;;ALDOLASE B DEFICIENCY;;ALDOB DEFICIENCY		ALDOB
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY		FBP1
FRYNS SYNDROME
FUCOSIDOSIS		FUCA1
#230500 GM1-GANGLIOSIDOSIS, TYPE I;;GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I;;GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM;;GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1;;BETA-GALACTOSIDASE-1 DEFICIENCY;;GLB1 DEFICIENCYGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED;;GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT,INCLUDED		GLB1
#230650 GM1-GANGLIOSIDOSIS, TYPE III;;GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE;;GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPE;;GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III;;GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3		GLB1
GAPO SYNDROME
#230800 GAUCHER DISEASE, TYPE I;;GD I;;GAUCHER DISEASE, NONCEREBRAL JUVENILE;;GLUCOCEREBROSIDASE DEFICIENCY;;ACID BETA-GLUCOSIDASE DEFICIENCY;;GBA DEFICIENCY		GBA
#230900 GAUCHER DISEASE, TYPE II;;GD II;;GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE		GBA
#231000 GAUCHER DISEASE, TYPE III;;GD III;;GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPE;;GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE;;GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRALGAUCHER DISEASE, TYPE IIIA, INCLUDED;;GAUCHER DISEASE, TYPE IIIB, INCLUDED;;GAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED		GBA
GAUCHER DISEASE, TYPE IIIC		GBA
#231050 GELEOPHYSIC DYSPLASIA 1; GPHYSD1		ADAMTSL2
GENITOPALATOCARDIAC SYNDROME
GERMAN SYNDROME
3-@HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY		HADH
#231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS;;TRIPLE-A SYNDROME;;ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER;;GLUCOCORTICOID DEFICIENCY AND ACHALASIA;;ALLGROVE SYNDROME;;ADDISONIAN-ACHALASIA SYNDROME;;HYPOADRENALISM WITH ACHALASIA;;ALACRIMA-ACHALASIA-ADDISONIANISM;;ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMAACHALASIA-ALACRIMA SYNDROME, INCLUDED		AAAS
GLYCOGEN STORAGE DISEASE IA		G6PC
GLYCOGEN STORAGE DISEASE IB		SLC37A4
GLYCOGEN STORAGE DISEASE IC		SLC37A4
GLYCOGEN STORAGE DISEASE II		GAA
#232400 GLYCOGEN STORAGE DISEASE III;;GSD III; GSD3;;FORBES DISEASE;;CORI DISEASE;;LIMIT DEXTRINOSIS;;AMYLO-1,6-GLUCOSIDASE DEFICIENCY;;AGL DEFICIENCY;;GLYCOGEN DEBRANCHER DEFICIENCY;;GDE DEFICIENCYGLYCOGEN STORAGE DISEASE IIIA, INCLUDED; GSD IIIA, INCLUDED;;GLYCOGEN STORAGE DISEASE IIIB, INCLUDED; GSD IIIB, INCLUDED;;GLYCOGEN STORAGE DISEASE IIIC, INCLUDED; GSD IIIC, INCLUDED;;GLYCOGEN STORAGE DISEASE IIID, INCLUDED; GSD IIID, INCLUDED		AGL
GLYCOGEN STORAGE DISEASE IV		GBE1
GLYCOGEN STORAGE DISEASE V		PYGM
233270 GOMBO SYNDROME;;GROWTH RETARDATION, OCULAR ABNORMALITIES, MICROCEPHALY, BRACHYDACTYLY,AND OLIGOPHRENIA
233430 GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES
GOODPASTURE SYNDROME
GORLIN-CHAUDHRY-MOSS SYNDROME
GROWTH FACTORS, COMBINED DEFECT OF
%234100 HALLERMANN-STREIFF SYNDROME; HSS;;FRANCOIS DYSCEPHALIC SYNDROME		GJA1
HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS
HEART BLOCK, CONGENITAL
234800 HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES
HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY
HEMANGIOPERICYTOMA, MALIGNANT
HEMIHYPERPLASIA, ISOLATED
#235200 HEMOCHROMATOSIS; HFE;;HLAH;;HEMOCHROMATOSIS, HEREDITARY; HH		HFE
MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIALPOLYDACTYLY
#235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1;;AHUS, SUSCEPTIBILITY TO, 1HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED
#235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME;;LYMPHATIC DYSPLASIA, GENERALIZED		CCBE1
HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY		SP110
#235730 MOWAT-WILSON SYNDROME;;MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITHOR WITHOUT HIRSCHSPRUNG DISEASE;;HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME		ZEB2
HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIGTOES, AND VENTRICULAR SEPTAL DEFECT
HOLZGREVE SYNDROME
#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
#236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATEREDUCTASE ACTIVITY;;METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY;;MTHFR DEFICIENCYMTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED		MTHFR
HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS
#236680 HYDROLETHALUS SYNDROME 1; HLS1		HYLS1
MCKUSICK-KAUFMAN SYNDROME		MKKS
HYDROPS FETALIS, IDIOPATHIC
%236800 HYDROXYKYNURENINURIA;;XANTHURENIC ACIDURIA;;KYNURENINASE DEFICIENCY
#237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO;;CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY;;CPS I DEFICIENCY		CPS1
#238600 HYPERLIPOPROTEINEMIA, TYPE I;;LIPOPROTEIN LIPASE DEFICIENCY;;LPL DEFICIENCY;;HYPERCHYLOMICRONEMIA, FAMILIAL;;HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE;;HYPERLIPEMIA, ESSENTIAL FAMILIAL;;LIPASE D DEFICIENCY;;LIPD DEFICIENCY;;HYPERLIPOPROTEINEMIA, TYPE IA;;CHYLOMICRONEMIA, FAMILIAL		LPL
PAGET DISEASE, JUVENILE		TNFRSF11B
HYPERTELORISM AND TETRALOGY OF FALLOT
%239800 HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME;;HMC SYNDROME
HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA		ABCC9
HYPOADRENOCORTICISM, FAMILIAL
#240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1;;APS I;;AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY; APECED;;AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE I;;POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE I;;PGA I;;HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASISPOLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE, INCLUDED;;AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT,INCLUDED;;AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEALDYSPLASIA, INCLUDED		AIRE
#241080 WOODHOUSE-SAKATI SYNDROME;;HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS,AND EXTRAPYRAMIDAL SYNDROME;;EXTRAPYRAMIDAL DISORDER, PROGRESSIVE, WITH PRIMARY HYPOGONADISM, MENTALRETARDATION, AND ALOPECIA		DCAF17
BARTTER SYNDROME, ANTENATAL, TYPE 2		KCNJ1
HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS
HYPOPHOSPHATASIA, INFANTILE		ALPL
HYPOPLASTIC LEFT HEART SYNDROME		GJA1
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED
#242500 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B;;ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE;;HARLEQUIN ICHTHYOSIS; HI;;'HARLEQUIN FETUS'		ABCA12
#242840 VICI SYNDROME; VICIS;;IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION,AND ABSENT CORPUS CALLOSUM		EPG5
IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE		SMARCAL1
INTERNAL CAROTID ARTERIES, HYPOPLASIA OF
#243150 INTESTINAL ATRESIA, MULTIPLE; MINAT;;FAMILIAL INTESTINAL POLYATRESIA SYNDROME; FIPA
NATAL TEETH - INTESTINAL PSEUDOOBSTRUCTION - PATENT DUCTUS
INTRACRANIAL HYPERTENSION, IDIOPATHIC
#243310 BARAITSER-WINTER SYNDROME 1; BRWS1;;IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION		ACTB
243440 ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME;;MICROTIA-AORTIC ARCH SYNDROME
#243500 ISOVALERIC ACIDEMIA; IVA;;ISOVALERIC ACID COA DEHYDROGENASE DEFICIENCY;;IVD DEFICIENCY		IVD
#243700 HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE;;HYPER-IGE SYNDROME, AUTOSOMAL RECESSIVE;;HIES, AUTOSOMAL RECESSIVE		DOCK8
#243800 JOHANSON-BLIZZARD SYNDROME; JBS;;NASAL ALAR HYPOPLASIA, HYPOTHYROIDISM, PANCREATIC ACHYLIA, AND CONGENITALDEAFNESS		UBR1
%244300 KAPUR-TORIELLO SYNDROME;;LONG COLUMELLA WITH CLEFT LIP/PALATE AND EYE, HEART, AND INTESTINALANOMALIES
#244400 CILIARY DYSKINESIA, PRIMARY, 1; CILD1;;PCD;;CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS;;IMMOTILE CILIA SYNDROME; ICS;;POLYNESIAN BRONCHIECTASISKARTAGENER SYNDROME, INCLUDED;;DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS, INCLUDED;;SIEWERT SYNDROME, INCLUDED		DNAI1
#245150 KEUTEL SYNDROME;;PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES		MGP
KNIEST-LIKE DYSPLASIA, LETHAL
LAMBERT SYNDROME
245552 LAMBOTTE SYNDROME;;MICROCEPHALY, HOLOPROSENCEPHALY, AND INTRAUTERINE GROWTH RETARDATION
#245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY		B3GAT3
245650 LARSEN-LIKE SYNDROME, LETHAL TYPE
245800 LAURENCE-MOON SYNDROME
246570 FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME;;FATCO SYNDROME
#246900 DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD;;DLD DEFICIENCY;;E3 DEFICIENCY;;LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO;;MAPLE SYRUP URINE DISEASE, TYPE III		DLD
#247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS;;MDSCHROMOSOME 17P13.3 DELETION SYNDROME, INCLUDED;;MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED
LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME
LYMPHOID INTERSTITIAL PNEUMONIA
#248360 MALONYL-COA DECARBOXYLASE DEFICIENCY		MLYCD
MANNOSIDOSIS, BETA A, LYSOSOMAL		MANBA
%248700 MARDEN-WALKER SYNDROME;;MWS
MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL
248910 CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA
MCDONOUGH SYNDROME
MECKEL SYNDROME, TYPE 1		MKS1
FAMILIAL MEDITERRANEAN FEVER		MEFV
%249210 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME;;MMIH SYNDROME;;BERDON SYNDROME
#249270 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA;;THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA,DIABETES MELLITUS, AND DEAFNESS TYPE); THMD1;;MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUSAND SENSORINEURAL DEAFNESS;;ROGERS SYNDROME;;THIAMINE-RESPONSIVE ANEMIA SYNDROME;;THIAMINE-RESPONSIVE MYELODYSPLASIA		SLC19A2
249400 MELANOSIS, NEUROCUTANEOUS
FRANK-TER HAAR SYNDROME		SH3PXD2B
MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS,AND HYPOPLASTIC TEETH
MENTAL RETARDATION, BUENOS AIRES TYPE
MERCAPTOLACTATE-CYSTEINE DISULFIDURIA
MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES
MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION
SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
CARTILAGE-HAIR HYPOPLASIA		RMRP
#250620 BETA-HYDROXYISOBUTYRYL COA DEACYLASE DEFICIENCY;;3-@HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY;;HIBCH DEFICIENCY;;METHACRYLIC ACIDURIA;;METHACRYLIC ACID TOXICITY;;VALINE METABOLIC DEFECT		HIBCH
250951 3-@METHYLGLUTACONIC ACIDURIA, TYPE IV; MGCA4;;MGA, TYPE IV; MGA4
#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
MICROCEPHALY-CARDIOMYOPATHY
#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
MITOCHONDRIAL COMPLEX II DEFICIENCY		SDHA ; SDHAF1
%252100 MOHR SYNDROME;;OROFACIODIGITAL SYNDROME II; OFD2;;OFDS II;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE II
MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA
MOYAMOYA DISEASE 1		MYMY1
#252500 MUCOLIPIDOSIS II ALPHA/BETA;;MUCOLIPIDOSIS II; ML II;;ML II ALPHA/BETA;;I-CELL DISEASE; ICD		GNPTAB
#252600 MUCOLIPIDOSIS III ALPHA/BETA;;ML III ALPHA/BETA;;MUCOLIPIDOSIS IIIA; ML IIIA;;MUCOLIPIDOSIS III;;ML III;;PSEUDO-HURLER POLYDYSTROPHYMUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED		GNPTAB
#252605 MUCOLIPIDOSIS III GAMMA;;ML III GAMMA;;MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C;;MUCOLIPIDOSIS IIIC;;ML IIIC;;MUCOLIPIDOSIS III, IRANIAN VARIANT FORM;;MUCOLIPIDOSIS III, VARIANT FORM		GNPTG
MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES
MUCOPOLYSACCHARIDOSIS TYPE IIIA		SGSH
MUCOPOLYSACCHARIDOSIS TYPE IIIB		NAGLU
#252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC;;MPS IIIC; MPS3C;;SANFILIPPO SYNDROME C;;ACETYL-COA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY		HGSNAT
#252940 MUCOPOLYSACCHARIDOSIS TYPE IIID;;MPS IIID;;SANFILIPPO SYNDROME D;;N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY		GNS
MORQUIO SYNDROME A		GALNS
MORQUIO SYNDROME B		GLB1
MUCOPOLYSACCHARIDOSIS TYPE VI		ARSB
#253220 MUCOPOLYSACCHARIDOSIS TYPE VII;;MPS VII; MPS7;;SLY SYNDROME;;BETA-GLUCURONIDASE DEFICIENCY;;GUSB DEFICIENCY		GUSB
MULIBREY NANISM		TRIM37
#253290 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS;;PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE		CHRNA1 ; CHRNG ; CHRND
SPINAL MUSCULAR ATROPHY, TYPE I		SMN1
253320 MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPICHYPOGONADISM;;CHUDLEY SYNDROME
#253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C;;MUSCULAR DYSTROPHY, DUCHENNE-LIKE;;DUCHENNE-LIKE MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, TYPE 1; DMDA1;;DMDA;;ADHALIN DEFICIENCY, SECONDARY;;SARCOGLYCAN, GAMMA, DEFICIENCY OF;;SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, NORTH AFRICANTYPE; SCARMD;;MAGHREBIAN MYOPATHY		SGCG
#253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4; MDDGA4;;FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED		FKTN
MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS
MUSCULAR HYPERTONIA, LETHAL
254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBINSEQUENCE;;CAREY-FINEMAN-ZITER SYNDROME;;CFZ SYNDROME
#255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY;;CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY;;CPT I DEFICIENCY;;CPT DEFICIENCY, HEPATIC, TYPE I		CPT1A
MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE		ISCU
#255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD;;FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITAL; CFTDM		SEPN1 ; ACTA1 ; TPM3
SCHWARTZ-JAMPEL SYNDROME, TYPE 1		HSPG2
MYXOMA, INTRACARDIAC		PRKAR1A
%255980 NASODIGITOACOUSTIC SYNDROME;;KEIPERT SYNDROME
NATHALIE SYNDROME
NAIL-PATELLA-LIKE RENAL DISEASE
#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
NEPHRONOPHTHISIS 1		NPHP1
NEPHROSIALIDOSIS
NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS
%256520 NEU-LAXOVA SYNDROME; NLS
NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY		CTSA
NEURAMINIDASE DEFICIENCY		NEU1
256690 NEUROFACIODIGITORENAL SYNDROME;;NFDR SYNDROME
NEUROBLASTOMA		NME1
#256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA;;NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS;;HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY IV; HSAN4;;HSAN IV;;FAMILIAL DYSAUTONOMIA, TYPE II		NTRK1
#257200 NIEMANN-PICK DISEASE, TYPE A;;SPHINGOMYELIN LIPIDOSIS;;SPHINGOMYELINASE DEFICIENCYNIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED		SMPD1
NIEMANN-PICK DISEASE, TYPE C1		NPC1
3MC SYNDROME 1		MASP1
OCULORENOCEREBELLAR SYNDROME
OMODYSPLASIA, GENERALIZED FORM		GPC6
#258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL RECESSIVE; PEOB;;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE		POLG
OROFACIODIGITAL SYNDROME IV		TCTN3
#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
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE		HPGD
FAMILIAL OSTEODYSPLASIA, ANDERSON TYPE
OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS
OSTEOGENESIS IMPERFECTA, TYPE III		COL1A2 ; COL1A1
TORG-WINCHESTER SYNDROME		MMP2
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME		LRP5
#259900 HYPEROXALURIA, PRIMARY, TYPE I; HP1;;OXALOSIS I;;GLYCOLIC ACIDURIA;;ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY;;PEROXISOMAL ALANINE:GLYOXYLATE AMINOTRANSFERASE DEFICIENCY;;HEPATIC AGT DEFICIENCY;;SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY		AGXT
SHWACHMAN-DIAMOND SYNDROME		SBDS
PANCREATIC INSUFFICIENCY, COMBINED EXOCRINE
PERICARDIAL EFFUSION, CHRONIC
HYPER-IGD SYNDROME		MVK
#261540 PETERS-PLUS SYNDROME;;KRAUSE-KIVLIN SYNDROME;;PETERS ANOMALY WITH SHORT-LIMB DWARFISM		B3GALTL
PFEIFFER-PALM-TELLER SYNDROME
PHAVER SYNDROME
#261600 PHENYLKETONURIA; PKU;;PHENYLALANINE HYDROXYLASE DEFICIENCY;;PAH DEFICIENCY;;OLIGOPHRENIA PHENYLPYRUVICA;;FOLLING DISEASEHYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED;;HPA, NON-PKU MILD, INCLUDED;;PHENYLKETONURIA, MATERNAL, INCLUDED		PAH
GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL		PRKAG2
PIERRE ROBIN SYNDROME
PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF
PLASMIN INHIBITOR DEFICIENCY		SERPINF2
PLATELET PROSTACYCLIN RECEPTOR DEFECT
INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE		PKHD1
POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA
#263300 POLYCYTHEMIA VERA;;PV;;POLYCYTHEMIA RUBRA VERA; PRV		JAK2
ERYTHROCYTOSIS, FAMILIAL, 2		VHL
#263510 SHORT RIB-POLYDACTYLY SYNDROME, TYPE III;;SRPS, TYPE III;;VERMA-NAUMOFF SYNDROME;;POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE III		DYNC2H1
SHORT RIB-POLYDACTYLY SYNDROME, TYPE I
263540 POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES
%263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION;;BONNEAU SYNDROME
#263650 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE;;BARTSOCAS-PAPAS SYNDROME; BPS;;PTERYGIUM, POPLITEAL, LETHAL TYPE;;MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE		RIPK4
#263750 POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS;;MILLER SYNDROME;;GENEE-WIEDEMANN SYNDROME		DHODH
PREPAPILLARY VASCULAR LOOPS
%264090 PROGEROID SYNDROME, NEONATAL;;WIEDEMANN-RAUTENSTRAUCH SYNDROME
PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, ANDDEAFNESS
264180 PSEUDODIASTROPHIC DYSPLASIA
#264350 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1B;;PHA I, AUTOSOMAL RECESSIVE		SCNN1G ; SCNN1A ; SCNN1B
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM
264480 PSEUDOTRISOMY 13 SYNDROME;;HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME
#264800 PSEUDOXANTHOMA ELASTICUM; PXE;;GRONBLAD-STRANDBERG SYNDROMEPSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF, INCLUDED;;PXE, MODIFIER OF SEVERITY OF, INCLUDED		ABCC6
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT		CHRNG
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1		SFTPB
PULMONARY ARTERIOVENOUS FISTULAS
265150 PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM
%265300 LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL;;LYMPHANGIOMATOSIS, PULMONARY;;PULMONARY CYSTIC LYMPHANGIECTASIS
PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN		FOXF1
PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE
#265450 PULMONARY VENOOCCLUSIVE DISEASE; PVOD		BMPR2
PULMONIC STENOSIS
REFSUM DISEASE		PHYH
266910 RENAL DYSPLASIA-LIMB DEFECTS SYNDROME;;RL SYNDROME
#267000 PERLMAN SYNDROME; PRLMNS;;RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM;;NEPHROBLASTOMATOSIS, FETAL ASCITES, MACROSOMIA, AND WILMS TUMOR		DIS3L2
RENAL, GENITAL, AND MIDDLE EAR ANOMALIES
#267430 RENAL TUBULAR DYSGENESIS; RTD;;PRIMITIVE RENAL TUBULE SYNDROMERENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA, INCLUDED		AGTR1 ; AGT ; ACE ; REN
RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA
268040 RETINOHEPATOENDOCRINOLOGIC SYNDROME;;RHE SYNDROME
#268130 REVESZ SYNDROME;;EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE		TINF2
RHEUMATIC FEVER-RELATED ANTIGENRHEUMATIC FEVER, ACUTE, SUSCEPTIBILITY TO, INCLUDED
RHIZOMELIC SYNDROME
#268300 ROBERTS SYNDROME; RBS;;LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE		ESCO2
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE		ROR2
#268400 ROTHMUND-THOMSON SYNDROME; RTS;;POIKILODERMA ATROPHICANS AND CATARACT		RECQL4
268500 ROWLEY-ROSENBERG SYNDROME;;GROWTH RETARDATION, PULMONARY HYPERTENSION, AND AMINO ACIDURIA
SANDHOFF DISEASE		HEXB
SC PHOCOMELIA SYNDROME		ESCO2
#269150 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME;;SGS		SETBP1
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2		BSCL2
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV
INFANTILE SIALIC ACID STORAGE DISORDER		SLC17A5
#270100 HETEROTAXY, VISCERAL, 5, AUTOSOMAL; HTX5;;SITUS INVERSUS VISCERUM; SIV		IV ; NODAL
#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
SONODA SYNDROME
SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES
%271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1; SEMDJL1;;SEMDJL
271950 SUBAORTIC STENOSIS, MEMBRANOUS
271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME;;ONAT SYNDROME
%272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION;;FILIPPI SYNDROME
TACHYCARDIA, HYPERTENSION, MICROPHTHALMIA, AND HYPERGLYCINURIA
#273395 TETRAAMELIA, AUTOSOMAL RECESSIVE		WNT3
TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, ANDOTHER ABNORMALITIES
INFANTILE SYMMETRICAL THALAMIC DEGENERATION
THROMBASTHENIA OF GLANZMANN AND NAEGELI		ITGB3 ; ITGA2B
#274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR;;TAR SYNDROME;;CHROMOSOME 1Q21.1 DELETION SYNDROME, 200-KB		RBM8A
THROMBOXANE A SYNTHASE 1		TBXAS1
THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY
274210 THYMIC APLASIA WITH FETAL DEATH
274230 THYMOMA, FAMILIAL;;THYMIC NEOPLASIA		THM
%275000 GRAVES DISEASE;;GRD;;THYROTOXICOSIS;;HYPERTHYROIDISM, AUTOIMMUNEGRAVES DISEASE, SUSCEPTIBILITY TO, 1, INCLUDED; GRD1, INCLUDED
#275210 RESTRICTIVE DERMOPATHY, LETHAL;;TIGHT SKIN CONTRACTURE SYNDROME, LETHAL;;HYPERKERATOSIS-CONTRACTURE SYNDROME;;FETAL HYPOKINESIA SEQUENCE DUE TO RESTRICTIVE DERMOPATHY		LMNA ; ZMPSTE24
TRYPTOPHANURIA WITH DWARFISM
#276300 MISMATCH REPAIR CANCER SYNDROME;;MMRCS;;MISMATCH REPAIR DEFICIENCY;;MMR DEFICIENCY;;CHILDHOOD CANCER SYNDROME;;BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTPS1;;BTP1 SYNDROME;;TURCOT SYNDROME		MSH2 ; MSH6 ; MLH1 ; PMS2
TYROSINEMIA, TYPE I		FAH
ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS
#276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS;;VACTERL-HVATER ASSOCIATION WITH HYDROCEPHALUS, INCLUDED;;VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, INCLUDED		PTEN
VASCULAR HYALINOSIS
RIGHT VENTRICULAR HYPOPLASIA, ISOLATED
VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		GGCX
#277460 VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED;;ATAXIA, FRIEDREICH-LIKE, WITH SELECTIVE VITAMIN E DEFICIENCY; AVED;;FRIEDREICH-LIKE ATAXIA		TTPA
VON WILLEBRAND DISEASE, RECESSIVE FORM		VWF
WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE		ADAMTS10
#277700 WERNER SYNDROME; WRN		WRN
WHITE FORELOCK WITH MALFORMATIONS
277970 WISKOTT-ALDRICH SYNDROME
LYSOSOMAL ACID LIPASE DEFICIENCY		LIPA
WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARS
#278250 WRINKLY SKIN SYNDROME; WSS		ATP6V0A2
#280000 COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTALRETARDATION, AND EAR ANOMALIES SYNDROME; CHIME;;CHIME SYNDROME;;ZUNICH NEUROECTODERMAL SYNDROME		PIGL
#300000 OPITZ GBBB SYNDROME, X-LINKED;;OPITZ GBBB SYNDROME, TYPE I; GGGB1;;OPITZ SYNDROME; OS;;OPITZ SYNDROME, X-LINKED; OSX;;OPITZ-G SYNDROME, TYPE I; OGS1;;OPITZ BBBG SYNDROME, TYPE I; BBBG1;;HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS;;HYPERTELORISM-HYPOSPADIAS SYNDROME;;TELECANTHUS-HYPOSPADIAS SYNDROME		MID1
#300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED;;IPOX;;CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION; CIIP;;CIIP, X-LINKED; CIIPX;;INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRALNERVOUS SYSTEM INVOLVEMENTCONGENITAL SHORT BOWEL SYNDROME, INCLUDED; CSBS, INCLUDED		FLNA
#300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT;;HETEROTOPIA, FAMILIAL NODULAR;;PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1;;NODULAR HETEROTOPIA, BILATERAL PERIVENTRICULAR; NHBP; BPNHHETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA,INCLUDED		FLNA
MENTAL RETARDATION, X-LINKED, SYNDROMIC 13		MECP2
#300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2;;OCULOFACIOCARDIODENTAL SYNDROME;;OFCD SYNDROME;;MICROPHTHALMIA, CATARACTS, RADICULOMEGALY, AND SEPTAL HEART DEFECTS;;ANOP2, FORMERLY;;MAA2, FORMERLY		BCOR
ALPORT SYNDROME - INTELLECTUAL DEFICIT - MIDFACE HYPOPLASIA - ELLIPTOCYTOSIS
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2		OFD1
#300215 LISSENCEPHALY, X-LINKED, 2; LISX2;;LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA; XLAG;;XLISGHYDRANENCEPHALY AND ABNORMAL GENITALIA, INCLUDED		ARX
COATS DISEASE		CTD
#300257 DANON DISEASE;;VACUOLAR CARDIOMYOPATHY AND MYOPATHY, X-LINKED;;PSEUDOGLYCOGENOSIS II;;ANTOPOL DISEASE;;LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY,FORMERLY;;GLYCOGEN STORAGE DISEASE IIB; GSD2B, FORMERLY;;GSD IIB, FORMERLY		LAMP2
ROIFMAN SYNDROME
%300261 ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME; MRXSA;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARMFIELD TYPE
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
HYPOMELANOSIS OF ITO		HMI
OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS		AMER1
#300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD;;BECKER MUSCULAR DYSTROPHY;;MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE		DMD
CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA,AND MICROGNATHIA		IGBP1
EHLERS-DANLOS SYNDROME WITH PERIVENTRICULAR HETEROTOPIA		FLNA
NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS		AVPR2
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 2, X-LINKED
#300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS		FMR1
FRAGILE X MENTAL RETARDATION SYNDROME		FMR1
PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY		PRPS1
#300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM;;SCAPULOPERONEAL MYOPATHY, FHL1-RELATED		FHL1
#300696 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMAEMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, INCLUDED; EDMD6, INCLUDED		FHL1
SYNDACTYLY - TELECANTHUS - ANOGENITAL AND RENAL MALFORMATIONS		FAM58A
%300712 CRANIOFACIOSKELETAL SYNDROME
#300718 MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET		FHL1
#300751 ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA;;ANEMIA, HYPOCHROMIC; ANH1;;ANEMIA, HEREDITARY SIDEROBLASTIC;;HEREDITARY IRON-LOADING ANEMIA		ALAS2
#300755 AGAMMAGLOBULINEMIA, X-LINKED; XLA;;BRUTON-TYPE AGAMMAGLOBULINEMIA;;AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1; AGMX1;;IMMUNODEFICIENCY 1; IMD1HYPOGAMMAGLOBULINEMIA, X-LINKED, INCLUDED		BTK
#300842 MCLEOD SYNDROME; MCLDS;;MCLEOD PHENOTYPE;;NEUROACANTHOCYTOSIS, MCLEOD TYPEMCLEOD SYNDROME WITH CHRONIC GRANULOMATOUS DISEASE, INCLUDED		XK
#300845 MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM,AND FACIAL DYSMORPHISM; MYMY4;;CHROMOSOME XQ28 DELETION SYNDROME, 3.4-KB;;SYNDROMIC MOYAMOYA DISEASE
#300855 OGDEN SYNDROME; OGDNS;;N-TERMINAL ACETYLTRANSFERASE DEFICIENCY; NATD		NAA10
#300867 KABUKI SYNDROME 2; KABUK2		KDM6A
#300868 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2		PIGA
#300886 MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		CLIC2
#300887 APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES; APLCC		COX7B
WISKOTT-ALDRICH SYNDROME		WAS
#301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX;;ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE;;ATR-X SYNDROME;;ATR, NONDELETION TYPE		ATRX
#301050 ALPORT SYNDROME, X-LINKED; ATS;;NEPHROPATHY AND DEAFNESS, X-LINKED		COL4A5
FABRY DISEASE		GLA
BRANCHIAL ARCH SYNDROME, X-LINKED
CARDIOMYOPATHY, DILATED, 3B		DMD
#302060 BARTH SYNDROME; BTHS;;CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA;;3-@METHYLGLUTACONIC ACIDURIA, TYPE II; MGCA2;;MGA, TYPE II; MGA2		TAZ
%302380 CATEL-MANZKE SYNDROME;;HYPERPHALANGY-CLINODACTYLY OF INDEX FINGER WITH PIERRE ROBIN SYNDROME;;PIERRE ROBIN SYNDROME WITH HYPERPHALANGY AND CLINODACTYLY;;INDEX FINGER ANOMALY WITH PIERRE ROBIN SYNDROME;;PALATODIGITAL SYNDROME, CATEL-MANZKE TYPE;;MICROGNATHIA DIGITAL SYNDROME
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,
CHARGE-LIKE SYNDROME, X-LINKED		TBX22
#303600 COFFIN-LOWRY SYNDROME; CLS		RPS6KA3
%304050 AICARDI SYNDROME; AIC;;CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY		AIC
#304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2;;OPD II SYNDROME;;OPD SYNDROME 2;;CRANIOORODIGITAL SYNDROME;;FACIOPALATOOSSEOUS SYNDROME; FPO		FLNA
#304150 OCCIPITAL HORN SYNDROME; OHS;;CUTIS LAXA, X-LINKED, FORMERLY;;EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY;;EDS IX, FORMERLY;;EDS9, FORMERLY		ATP7A
#305100 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED;;ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED; ECTD1;;XLHED;;ECTODERMAL DYSPLASIA, ANHIDROTIC, X-LINKED; EDA;;EDA1;;ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1; HED1;;ECTODERMAL DYSPLASIA 1; ED1;;CHRIST-SIEMENS-TOURAINE SYNDROME;;CST SYNDROME		EDA
EHLERS-DANLOS SYNDROME, TYPE V
ENDOCARDIAL FIBROELASTOSIS
#305450 OPITZ-KAVEGGIA SYNDROME; OKS;;FG SYNDROME 1; FGS1;;FG SYNDROME; FGS;;MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA,AND PARTIAL AGENESIS OF CORPUS CALLOSUM;;KELLER SYNDROME		MED12
#305600 FOCAL DERMAL HYPOPLASIA; FDH;;FODH; DHOF;;GOLTZ SYNDROME;;GOLTZ-GORLIN SYNDROME		PORCN
FRONTOMETAPHYSEAL DYSPLASIA		FLNA
MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED
HEMOPHILIA A		F8
HEMOPHILIA A WITH VASCULAR ABNORMALITY
HEMOPHILIA B		F9
HETEROTAXY, VISCERAL, 1, X-LINKED		ZIC3
HYPOPARATHYROIDISM, X-LINKED		HPT
#308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMBDEFECTS;;CHILD SYNDROME;;ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS,ESPECIALLY ABSENCE DEFORMITY OF LIMBS		NSDHL
#308300 INCONTINENTIA PIGMENTI; IP;;INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE;;BLOCH-SULZBERGER SYNDROME;;INCONTINENTIA PIGMENTI, TYPE II, FORMERLY; IP2, FORMERLY		IKBKG
MELNICK-NEEDLES SYNDROME		FLNA
MENKES DISEASE		ATP7A
#309500 RENPENNING SYNDROME 1; RENS1;;MENTAL RETARDATION, X-LINKED, RENPENNING TYPE;;SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME; SHS;;GOLABI-ITO-HALL SYNDROME;;MENTAL RETARDATION, X-LINKED, WITH SPASTIC DIPLEGIA;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 3; MRXS3;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 8; MRXS8;;MENTAL RETARDATION, X-LINKED 55; MRX55		PQBP1
#309520 LUJAN-FRYNS SYNDROME;;MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS		MED12
MICROPHTHALMIA, SYNDROMIC 1		MAA
MICROPHTHALMIA, SYNDROMIC 7		HCCS
#309900 MUCOPOLYSACCHARIDOSIS TYPE II;;MPS II; MPS2;;HUNTER SYNDROME;;IDURONATE 2-SULFATASE DEFICIENCY;;IDS DEFICIENCY;;SULFOIDURONATE SULFATASE DEFICIENCY;;SIDS DEFICIENCY		IDS
MUSCULAR DYSTROPHY, CARDIAC TYPE
MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL
MUSCULAR DYSTROPHY, DUCHENNE TYPE		DMD
EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED		EMD
NORRIE DISEASE		NDP
#311200 OROFACIODIGITAL SYNDROME I; OFD1;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE I;;OFDS I;;PAPILLON-LEAGE AND PSAUME SYNDROME		OFD1
#311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO;;ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY;;OTC DEFICIENCYVALPROATE SENSITIVITY, INCLUDED		OTC
TARP SYNDROME		RBM10
%312150 MULTIPLE PTERYGIUM SYNDROME, X-LINKED;;PTERYGIUM SYNDROME, MULTIPLE, X-LINKED
RETINAL DYSPLASIA, PRIMARY		PRD
RETT SYNDROME		MECP2
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1		GPC3
THORACOABDOMINAL SYNDROME		THAS
THROMBOCYTOPENIA 1		WAS
TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA		TKCR
TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY
#314390 VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX;;VACTERL-H, X-LINKED		ZIC3
CARDIAC VALVULAR DYSPLASIA, X-LINKED		FLNA
CYCLIC VOMITING SYNDROME
#520000 DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD;;DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED;;BALLINGER-WALLACE SYNDROME;;DIABETES MELLITUS, TYPE II, WITH DEAFNESS;;NONINSULIN-DEPENDENT DIABETES MELLITUS WITH DEAFNESS;;NIDDM WITH DEAFNESS
KEARNS-SAYRE SYNDROME
LEBER OPTIC ATROPHY
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES
#600001 PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD;;PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITALHEART DISEASE		GATA6
600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL ANDRADIAL DEFECTS
#600142 CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CARASIL;;MAEDA SYNDROME;;SUBCORTICAL VASCULAR ENCEPHALOPATHY, PROGRESSIVE;;CEREBROVASCULAR DISEASE WITH THIN SKIN, ALOPECIA, AND DISC DISEASE		HTRA1
SACRAL DEFECT WITH ANTERIOR MENINGOCELE		VANGL1
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL		TEK
LOWRY-MACLEAN SYNDROME
%600268 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS;;OCULOECTODERMAL SYNDROME; OES
ATRIOVENTRICULAR SEPTAL DEFECT		GJA1
ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY
CODAS SYNDROME
#600376 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED,INCLUDED		ACVRL1
#600383 MESOMELIA-SYNOSTOSES SYNDROME;;CHROMOSOME 8Q13 DELETION SYNDROME;;MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFERTYPE;;MESOMELIC DYSPLASIA, SYNDROMIC
ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS
#600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR;;ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROMECHROMOSOME 2Q37 DELETION SYNDROME, INCLUDED		HDAC4 ; BDMR
ARTERIAL DISSECTION WITH LENTIGINOSIS
600460 CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY;;CCGE;;ACROCARDIOFACIAL SYNDROME; ACFS
#600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1		CHRNA4
HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS
600643 CAROLI DISEASE, ISOLATED
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE		CPT2
#600721 D-2-@HYDROXYGLUTARIC ACIDURIA 1;;D2HGA;;D2HGA1		D2HGDH
CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL		PBCRA1
#600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6		PRKAG2
BUDD-CHIARI SYNDROMEMEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA, INCLUDED
CARDIOMYOPATHY, DILATED, 1B		CMD1B
FANCONI ANEMIA, COMPLEMENTATION GROUP E		FANCE
WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED		ANK2
#600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS;;MARDEN-WALKER-LIKE SYNDROME WITHOUT PSYCHOMOTOR RETARDATION;;BLEPHAROPHIMOSIS, ARACHNODACTYLY, AND CONGENITAL CONTRACTURES		SCARF2
REFSUM DISEASE WITH INCREASED PIPECOLIC ACIDEMIA
ACHONDROGENESIS, TYPE IB		SLC26A2
CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2		RYR2
PORTAL VEIN, CAVERNOUS TRANSFORMATION OF
TIMOTHY SYNDROME		CACNA1C
LATERALITY DEFECTS, AUTOSOMAL DOMINANT
HARROD SYNDROME
FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION
BRUGADA SYNDROME 1		SCN5A
#601154 CARDIOMYOPATHY, DILATED, 1E; CMD1E;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2; CDCD2		SCN5A
TRISOMY 18-LIKE SYNDROME
CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION,AND LETHAL CONGENITAL HEART DISEASE
MICROPHTHALMIA, SYNDROMIC 9		STRA6
NAXOS DISEASE		JUP
#601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS;;NOONAN-NEUROFIBROMATOSIS SYNDROME;;NEUROFIBROMATOSIS WITH NOONAN PHENOTYPE		NF1
PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS
601347 MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY
ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA
MICROPHTHALMIA, SYNDROMIC 8
MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS,AND HYPOSEGMENTED LUNGS
%601357 BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY; ACLH;;BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS
#601358 NICOLAIDES-BARAITSER SYNDROME; NCBRS;;SPARSE HAIR AND MENTAL RETARDATION;;NBS		SMARCA2
DISTAL MONOSOMY 10P
STROKE, ISCHEMIC
ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE
#601378 CRISPONI SYNDROME;;MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY,HYPERTHERMIA, AND SUDDEN DEATH
RETINITIS PIGMENTOSA 18		PRPF3
#601419 MYOPATHY, MYOFIBRILLAR, 1; MFM1;;MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED;;DESMINOPATHY, PRIMARY;;DESMIN-RELATED MYOPATHY; DRM;;INCLUSION BODY MYOPATHY 1, AUTOSOMAL DOMINANT, FORMERLY; IBM1, FORMERLY;;CARDIOMYOPATHY, DILATED, 1F AND LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE1D, FORMERLY;;CMD1F AND LGMD1D, FORMERLY;;CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT AND MUSCULAR DYSTROPHY;CDCD3, FORMERLY		DES
DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS
PATENT DUCTUS VENOSUS
CARDIOMYOPATHY, DILATED, 1C; CMD1C		CMD1C ; LDB3
#601494 CARDIOMYOPATHY, DILATED, 1D; CMD1D;;LEFT VENTRICULAR NONCOMPACTION 6, INCLUDED; LVNC6, INCLUDED		TNNT2
RIEGER SYNDROME, TYPE 2		RIEG2
#601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS;;NAVAJO BRAINSTEM SYNDROMEBOSLEY-SALIH-ALORAINY SYNDROME, INCLUDED; BSAS, INCLUDED		HOXA1
#601559 STUVE-WIEDEMANN SYNDROME;;STWS; SWS;;SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;;SCHWARTZ-JAMPEL SYNDROME, NEONATAL;;STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME		LIFR
%601612 LUNG AGENESIS, CONGENITAL HEART DEFECTS, AND THUMB ANOMALIES SYNDROME;LACHT;;MARDINI-NYHAN ASSOCIATION
BARTTER SYNDROME, ANTENATAL, TYPE 1		SLC12A1
#601718 RETINITIS PIGMENTOSA 19; RP19		ABCA4
#601776 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE;;ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME;;EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY; EDS6B, FORMERLY;;ADDUCTED THUMB-CLUBFOOT SYNDROME; ATCS;;DUNDAR SYNDROME;;ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS		CHST14
#601803 PALLISTER-KILLIAN SYNDROME; PKS;;TETRASOMY 12P, MOSAIC;;ISOCHROMOSOME 12P SYNDROMEHEXASOMY 12P, MOSAIC, INCLUDED
#601808 CHROMOSOME 18Q DELETION SYNDROME;;CHROMOSOME 18Q- SYNDROME;;18Q- SYNDROME
EXUDATIVE VITREORETINOPATHY 4		LRP5
BILIRUBIN, ELEVATED CONCENTRATIONS OF, IN SERUM
PROTEIN KINASE, LYSINE-DEFICIENT 4		WNK4
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME		FASLG ; FAS
#601894 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2; GFND2;;GLOMERULAR NEPHRITIS, FAMILIAL, WITH FIBRONECTIN DEPOSITS;;FIBRONECTIN GLOMERULOPATHY		FN1
%601927 LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES;;IRONS-BIANCHI SYNDROME;;LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND CHARACTERISTIC FACIES
HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION
FRIEDREICH ATAXIA 2		FRDA2
CHLORIDE CHANNEL, KIDNEY, B		CLCNKB
TRIMETHYLAMINURIA		FMO3
%602086 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 3; ARVC3		ARVD3
%602087 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 4; ARVC4		ARVD4
NEPHRONOPHTHISIS 2		INVS
#602089 HEMANGIOMA, CAPILLARY INFANTILE;;HCI;;HEMANGIOMA, HEREDITARY CAPILLARY		FLT4 ; KDR
%602248 MALIGNANT ATROPHIC PAPULOSIS;;DEGOS DISEASE;;PAPULOSIS, MALIGNANT ATROPHIC
PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES
#602390 HEMOCHROMATOSIS, TYPE 2A; HFE2AHEMOCHROMATOSIS, TYPE 2, INCLUDED; HFE2, INCLUDED;;HEMOCHROMATOSIS, JUVENILE, INCLUDED; JH, INCLUDED		HFE2
#602398 DESMOSTEROLOSIS		DHCR24
#602473 ENCEPHALOPATHY, ETHYLMALONIC; EE		ETHE1
MIGRAINE, FAMILIAL HEMIPLEGIC, 2		ATP1A2
#602482 AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3;;AXENFELD-RIEGER ANOMALY WITH OR WITHOUT CARDIAC DEFECTS AND/OR SENSORINEURALHEARING LOSS;;ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS;;ANTERIOR CHAMBER CLEAVAGE SYNDROME;;RIEGER SYNDROME, TYPE 3AXENFELD ANOMALY, INCLUDED;;RIEGER ANOMALY, INCLUDED;;AXENFELD-RIEGER ANOMALY, INCLUDED		FOXC1
#602501 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP;;MACROCEPHALY-CAPILLARY MALFORMATION; MCM;;MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME;;MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA; MCMTC;;MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA		PIK3CA
GRANGE SYNDROME
#602535 MARSHALL-SMITH SYNDROME; MRSHSS		NFIX
#602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC;;MUSCULAR DYSTROPHY, CONGENITAL, WITH MITOCHONDRIAL STRUCTURAL ABNORMALITIES		CHKB
DISTAL MONOSOMY 13Q
CRANIOMICROMELIC SYNDROME
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL
DYSTROPHIA MYOTONICA 2		CNBP
#602772 RETINITIS PIGMENTOSA 25; RP25		EYS
#602782 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME;;HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC,AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS;;HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,HEART ANOMALIES, AND HYPOGONADISM WITH OR WITHOUT HEARING LOSS;;H SYNDROME;;PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS;PHID;;HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS;HJCD;;FAISALABAD HISTIOCYTOSIS;;ROSAI-DORFMAN DISEASE, FAMILIAL;;SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY; SHML		SLC29A3
CEREBRAL CAVERNOUS MALFORMATIONS 2		CCM2
#603285 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3		PDCD10
#603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT		PIK3R2 ; PIK3CA ; AKT3
HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARINGLOSS
BLEPHAROPHIMOSIS-INTELLECTUAL DEFICIT SYNDROME, SBBYS TYPE		KAT6B
POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2		KCNE2
#603813 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH;;HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1, FORMERLY; ARH1, FORMERLY;;FHCB1, FORMERLY;;HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2, FORMERLY; ARH2, FORMERLY;;FHCB2, FORMERLY		LDLRAP1
#603829 VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITYTO;;VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1; VF1		SCN5A
#603830 LONG QT SYNDROME 3; LQT3LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;;LONG QT SYNDROME 3/6, DIGENIC, INCLUDED; LQT3/6, DIGENIC, INCLUDED		SCN5A
#603903 SICKLE CELL ANEMIA		HBB
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA		CASP10
#604145 CARDIOMYOPATHY, DILATED, 1G; CMD1G		TTN
#604169 LEFT VENTRICULAR NONCOMPACTION 1; LVNC1;;LEFT VENTRICULAR NONCOMPACTION WITH OR WITHOUT CONGENITAL HEART DEFECTS		DTNA
ATPASE DEFICIENCY, NUCLEAR-ENCODED		ATPAF2
#604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E		SGCB
CARNEY TRIAD
ACERULOPLASMINEMIAHYPOCERULOPLASMINEMIA, INCLUDED		CP
SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS		MIF
#604308 MASS SYNDROME;;MASS PHENOTYPE;;OVERLAP CONNECTIVE TISSUE DISEASE; OCTD		FBN1
BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3		PPP1R3A ; PPARG
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASEDEFICIENCY		SCO2
PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES
#604393 LEBER CONGENITAL AMAUROSIS 4; LCA4RETINITIS PIGMENTOSA, JUVENILE, AIPL1-RELATED, INCLUDED;;CONE-ROD DYSTROPHY, AIPL1-RELATED, INCLUDED		AIPL1
#604400 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 5; ARVC5		TMEM43 ; RPSA
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL		MPL
#604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B;;PFHBIB		TRPM4
#604765 CARDIOMYOPATHY, DILATED, 1I; CMD1I		DES
#604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH ORWITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1;;VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC; VTSIP		RYR2
#604901 NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC		CIRH1A
OKAMOTO SYNDROME
#605021 MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME;;EIM		TBC1D24
#605039 BOHRING-OPITZ SYNDROME; BOPS;;C-LIKE SYNDROME;;OPITZ TRIGONOCEPHALY-LIKE SYNDROME;;BOHRING SYNDROME		ASXL1
#605115 HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATIONIN PREGNANCY		NR3C2
FRONTOOCULAR SYNDROME
#605362 CARDIOMYOPATHY, DILATED, 1J; CMD1J;;CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMALDOMINANT		EYA4
PARAGANGLIOMAS 3		SDHC
#605376 HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2;;HTX		CFC1
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY		SNCA ; PARK4
%605549 CONE-ROD DYSTROPHY 8; CORD8		CORD8
WOOLLY HAIR-PALMOPLANTAR KERATODERMA-DILATED CARDIOMYOPATHY SYNDROME		DSP
#605711 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1;;MMDS		NFU1
#605714 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED;;AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED;;AMYLOIDOSIS, HEREDITARY, WITH CEREBRAL HEMORRHAGE, DUTCH VARIANT;HCHWAD;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT		APP
%605735 BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12;;PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1 DEFICIENCY, PLATELET;;PGHS1 DEFICIENCY;;PLATELET CYCLOOXYGENASE 1 DEFICIENCY;;PLATELET COX1 DEFICIENCY
SPONDYLO-OCULAR SYNDROME
#606003 TRANSALDOLASE DEFICIENCY		TALDO1
#606054 PROPIONIC ACIDEMIA;;PROPIONYL-COA CARBOXYLASE DEFICIENCY;;PCC DEFICIENCY;;GLYCINEMIA, KETOTIC;;HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA;;KETOTIC HYPERGLYCINEMIA		PCCB ; PCCA
SENER SYNDROME
#606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3;;NEUROFERRITINOPATHY;;BASAL GANGLIA DISEASE, ADULT-ONSET		FTL
#606170 GENITOPATELLAR SYNDROME; GTPTS;;ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM,AND MENTAL RETARDATION		KAT6B
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2		CRELD1
#606232 CHROMOSOME 22Q13.3 DELETION SYNDROME;;TELOMERIC 22Q13 MONOSOMY SYNDROME;;PHELAN-MCDERMID SYNDROME		SHANK3
#606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY;;EDS DUE TO TNX DEFICIENCY;;TNX DEFICIENCY		TNXB
606519 PHACE ASSOCIATION;;PHACES ASSOCIATION
#606685 CARDIOMYOPATHY, DILATED, 1L; CMD1L		SGCD
LYMPHANGIOLEIOMYOMATOSIS		TSC1 ; TSC2
DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA		ADCY5
LIPODYSTROPHY WITH CONGENITAL CATARACTS AND NEURODEGENERATION
#606763 CILIARY DYSKINESIA, PRIMARY, 2; CILD2;;CILIARY DYSKINESIA, PRIMARY, 2, WITH OR WITHOUT SITUS INVERSUS		DNAAF3 ; CILD2
#606764 GASTROINTESTINAL STROMAL TUMOR; GIST		KIT ; SDHC ; SDHB ; PDGFRA
CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS
CARNEY-STRATAKIS SYNDROME		SDHD ; SDHC ; SDHB
HURLER SYNDROME		IDUA
HURLER-SCHEIE SYNDROME		IDUA
SCHEIE SYNDROME		IDUA
#607155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I;;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED		FKRP
CLOVERLEAF SKULL - MULTIPLE CONGENITAL ANOMALIES
#607323 DUANE-RADIAL RAY SYNDROME; DRRS;;OKIHIRO SYNDROME;;DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS;;DR SYNDROME;;ACRORENOOCULAR SYNDROME		SALL4
#607330 LATHOSTEROLOSIS;;STEROL C5-DESATURASE DEFICIENCY;;SC5D DEFICIENCY		SC5D
BARTTER SYNDROME, TYPE 3		CLCNKB
PATENT ARTERIAL DUCT
#607426 COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1;;COQ10 DEFICIENCY, PRIMARY, 1;;UBIQUINONE DEFICIENCY 1;;COENZYME Q DEFICIENCY 1;;COQ DEFICIENCY 1		COQ2
#607450 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8; ARVC8		DSP
#607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO;;SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMALRECESSIVESPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED; SCAE, INCLUDED		POLG
#607482 CARDIOMYOPATHY, DILATED, 1M; CMD1M		CSRP3
#607487 CARDIOMYOPATHY, DILATED, 1N; CMD1N		TCAP
ATRIAL FIBRILLATION, FAMILIAL, 3		KCNQ1
#607595 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE;;INFANTILE HEMIPARESIS;;RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY,AUTOSOMAL DOMINANTBRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY, INCLUDED;;LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY, INCLUDED		COL4A1
LETHAL CONGENITAL CONTRACTURE SYNDROME 2		ERBB3
NIEMANN-PICK DISEASE, TYPE B		SMPD1
NIEMANN-PICK DISEASE, TYPE C2		NPC2
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS		CLDN1
#607655 SKIN FRAGILITY-WOOLLY HAIR SYNDROME; SFWHS		DSP
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC		PDGFRA
#607721 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR; NSLH		SHOC2
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1		HSD3B7
#607812 CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD;;BOYADJIEV-JABS SYNDROME		SEC23A
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME		SOX18
MITRAL VALVE PROLAPSE, MYXOMATOUS 2		MMVP2
#607832 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3;;GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 3, SUSCEPTIBILITY TO		CD2AP
#607872 CHROMOSOME 1P36 DELETION SYNDROME;;MONOSOMY 1P36 SYNDROME
#607921 RETINITIS PIGMENTOSA 30; RP30		FSCN2
#607941 ATRIAL SEPTAL DEFECT 2; ASD2		GATA4
GAUCHER DISEASE, PERINATAL LETHAL		GBA
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH ANDGASTROESOPHAGEAL REFLUX
#608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D;;DUCHENNE-LIKE AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, TYPE 2; DMDA2;;ADHALINOPATHY, PRIMARY		SGCA
608227 CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRALNEURAL TUBE DEFECTS, AND GROWTH AND DEVELOPMENTAL RETARDATION
#608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1;;CORONARY ARTERY DISEASE WITH MYOCARDIAL INFARCTION
WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT		FBN1
#608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION;;CMAVMCAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION, INCLUDED		RASA1
ANGIO-OSTEOHYPERTROPHIC SYNDROME		RASA1
#608358 MYOPATHY, MYOSIN STORAGE;;MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT		MYH7
#608363 CHROMOSOME 22Q11.2 DUPLICATION SYNDROME;;CHROMOSOME 22Q11.2 MICRODUPLICATION SYNDROME
#608380 RETINITIS PIGMENTOSA 26; RP26		CERKL
VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, ANDGROWTH DEFICIENCY
#608454 KNOBLOCH SYNDROME 2; KNO2		ADAMTS18
#608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK; CDG1K;;CDG IK; CDGIK		ALG1
%608545 LARSEN-LIKE SYNDROME;;LRSL
#608553 LEBER CONGENITAL AMAUROSIS 9; LCA9		NMNAT1 ; LCA9
#608567 SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1;;SINUS RHYTHM, CONGENITAL ABSENCE OF;;SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE;;SICK SINUS SYNDROME, CONGENITAL;;SINUS BRADYCARDIA SYNDROME, FAMILIAL		SCN5A
#608569 CARDIOMYOPATHY, DILATED, 1O; CMD1O;;CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA		ABCC9
608571 ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY
BURN-MCKEOWN SYNDROME
STEVENS-JOHNSON SYNDROME
ATRIAL FIBRILLATION, FAMILIAL, 1
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1
HYPERTENSION, DIASTOLIC, RESISTANCE TO
AUTISM, SUSCEPTIBILITY TO, 4
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY		DDC
#608644 CILIARY DYSKINESIA, PRIMARY, 3; CILD3;;CILIARY DYSKINESIA, PRIMARY, 3, WITH OR WITHOUT SITUS INVERSUS		DNAH5
#608688 AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY;;ATIC DEFICIENCY;;AICA-RIBOSURIA DUE TO ATIC DEFICIENCY		ATIC
WEGENER GRANULOMATOSIS
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA
#608751 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8;;CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 1		MYL3
#608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10;;CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2		MYL2
COG7-CDG SYNDROME		COG7
#608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE; CDG1E;;CDG IE; CDGIE		DPM1
SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME		TSPYL1
#608808 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1;;D-TGA		MED13L
#608810 MYOPATHY, MYOFIBRILLAR, 2, MFM2;;MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED;;MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE CRYAB GENE;;ALPHA-B CRYSTALLINOPATHY		CRYAB
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL		CPT2
#608837 CARNEY COMPLEX VARIANT		MYH8
#608967 LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A;;AORTIC ANEURYSM, FAMILIAL THORACIC 5; AAT5		TGFBR1
MEACHAM SYNDROME		WT1
MARFANOID HABITUS WITH SITUS INVERSUS
#609015 TRIFUNCTIONAL PROTEIN DEFICIENCY;;MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCYTRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY, INCLUDED		HADHB ; HADHA
#609016 LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY;;LCHAD DEFICIENCY		HADHA
#609029 EMANUEL SYNDROME;;SUPERNUMERARY DER(22)T(11;22) SYNDROME
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9		PKP2
PIERSON SYNDROME		LAMB2
#609053 FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI		FANCI
#609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURGSYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH;;WAARDENBURG-SHAH SYNDROME, NEUROLOGIC VARIANT		SOX10
#609152 HYPERTHYROIDISM, NONAUTOIMMUNE;;HYPERTHYROIDISM, CONGENITAL NONAUTOIMMUNE;;HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOSOMAL DOMINANT;;TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT		TSHR
LOEYS-DIETZ SYNDROME, TYPE 1A LOEYS-DIETZ AORTIC ANEURYSM SYNDROME		TGFBR1
MYOTILINOPATHY		MYOT
KANZAKI DISEASE		NAGA
#609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3; PEOA3;;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 3		C10ORF2
#609308 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; LGMD2K		POMT1
#609338 CAROTID INTIMAL MEDIAL THICKNESS 1;;CIMT1;;INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY		PPARG
CHROMOSOME 3Q29 DELETION SYNDROME
609438 MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIALBLOCK
MYOPATHY, MYOFIBRILLAR, ZASP-RELATED		LDB3
EYE DEFECTS - ARACHNODACTYLY - CARDIOPATHY
MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET
#609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMASYNDROME;;CEDNIK SYNDROME		SNAP29
#609620 SHORT QT SYNDROME 1; SQT1		KCNH2
#609621 SHORT QT SYNDROME 2; SQT2		KCNQ1
#609622 SHORT QT SYNDROME 3; SQT3		KCNJ2
#609625 CHROMOSOME 10Q26 DELETION SYNDROME;;TERMINAL CHROMOSOME 10Q26 DELETION SYNDROME
MAJEED SYNDROME		LPIN2
EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC		DSP
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS
CUTANEOUS LEUKOCYTOCLASTIC ANGIITIS
#609909 CARDIOMYOPATHY, DILATED, 1P; CMD1P		PLN
#609923 RETINITIS PIGMENTOSA 31; RP31		TOPORS
#609942 NOONAN SYNDROME 3; NS3		KRAS
609945 BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
#610015 GLUTAMINE DEFICIENCY, CONGENITAL;;GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC		GLUL
GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT
#610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4; PEOA4;;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 4		POLG2
HEART-HAND SYNDROME, SLOVENIAN TYPE		LMNA
#610168 LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B		TGFBR2
#610193 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 10; ARVC10		DSG2
#610198 3-@METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5;;CARDIOMYOPATHY, DILATED, WITH ATAXIA; DCMA;;MGA, TYPE V; MGA5		DNAJC19
#610205 ALAGILLE SYNDROME 2; ALGS2		NOTCH2
#610253 KLEEFSTRA SYNDROME;;CHROMOSOME 9Q34.3 DELETION SYNDROME;;9Q- SYNDROME;;9Q SUBTELOMERIC DELETION SYNDROME		EHMT1
GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY		PIGM
RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL
#610359 RETINITIS PIGMENTOSA 33; RP33		SNRNP200
#610380 LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B;;AORTIC ANEURYSM, FAMILIAL THORACIC 3; AAT3;;MARFAN SYNDROME, TYPE II, FORMERLY		TGFBR2
#610443 KOOLEN-DE VRIES SYNDROME; KDVS;;CHROMOSOME 17Q21.31 DELETION SYNDROME;;MICRODELETION 17Q21.31 SYNDROME		KANSL1
#610448 CHILBLAIN LUPUS 1; CHBL1		TREX1
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2		PDE11A
#610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 11; ARVC11ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILDPALMOPLANTAR KERATODERMA AND WOOLLY HAIR, INCLUDED		DSC2
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1		PRKAR1A
#610498 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2;;CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS		MRPS16
#610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3;;ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;;CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS		TSFM
#610536 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA;;MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY; MFDM;;GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY,AND CLEFT PALATE		EFTUD2
CHROMOSOME 16P13.3 DELETION SYNDROME
#610599 RETINITIS PIGMENTOSA 36; RP36		PRCD
#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
%610655 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4; HHT4
#610682 OSTEOGENESIS IMPERFECTA, TYPE VII; OI7;;OI, TYPE VII;;OSTEOGENESIS IMPERFECTA, TYPE IIB, FORMERLY; OI2B, FORMERLY		CRTAP
#610733 NOONAN SYNDROME 4; NS4		SOS1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM		DOLK
#610773 MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY;;MPCD		SLC25A3
#610832 FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN		PALB2
MITRAL VALVE PROLAPSE, MYXOMATOUS 3
#610842 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTORDEFICIENCY;;PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		GGCX
#610883 POTOCKI-LUPSKI SYNDROME; PTLS;;CHROMOSOME 17P11.2 DUPLICATION SYNDROME
#610965 XFE PROGEROID SYNDROME;;XPF-ERCC1 PROGEROID SYNDROME		ERCC4
#610984 COMPLEMENT FACTOR I DEFICIENCY; CFID;;COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY;;C3 INACTIVATOR DEFICIENCY		CFI
#611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE;;PMSE SYNDROME		STRADA
#611126 ACYL-COA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF;;ACAD9 DEFICIENCY;;MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY		ACAD9
#611134 MECKEL SYNDROME, TYPE 4; MKS4;;MECKEL-GRUBER SYNDROME, TYPE 4MECKEL-LIKE CEREBRORENODIGITAL SYNDROME, INCLUDED		CEP290
#611174 HAMAMY SYNDROME; HMMS;;HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION,AND BONE FRAGILITY		IRX5
#611283 ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY;;IBD DEFICIENCY;;ACYL-COA DEHYDROGENASE FAMILY, MEMBER 8, DEFICIENCY OF;;ACAD8 DEFICIENCY		ACAD8
#611363 ATRIAL SEPTAL DEFECT 4; ASD4		TBX20
MUNGAN SYNDROME
#611407 CARDIOMYOPATHY, DILATED, 1W; CMD1W		VCL
CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY		SERPINA6
#611493 ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4		KCNE2
#611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12;;ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 12; ARVC12		JUP
#611553 NOONAN SYNDROME 5; NS5		RAF1
#611554 LEOPARD SYNDROME 2		RAF1
#611556 GLYCOGEN STORAGE DISEASE 0, MUSCLE;;GSD 0B; GSD0B;;MUSCLE GLYCOGEN STORAGE DISEASE 0;;MUSCLE GLYCOGEN SYNTHASE DEFICIENCY		GYS1
CARDIOMYOPATHY, DILATED, 1X		FKTN
MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY		TTN
#611719 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5		MRPS22
#611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS;HANAC		COL4A1
KAWASAKI DISEASE
#611777 BRUGADA SYNDROME 2; BRGDA2		GPD1L
#611788 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6;;FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRISFLOCCULI		ACTA2
#611818 LONG QT SYNDROME 9; LQT9;;LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED		CAV3
#611819 LONG QT SYNDROME 10; LQT10		SCN4B
#611820 LONG QT SYNDROME 11; LQT11		AKAP9
CHROMOSOME 22Q11.2 DELETION SYNDROME, DISTAL
#611875 BRUGADA SYNDROME 3; BRGDA3		CACNA1C
#611876 BRUGADA SYNDROME 4; BRGDA4		CACNB2
#611878 CARDIOMYOPATHY, DILATED, 1Y; CMD1Y		TPM1
#611879 CARDIOMYOPATHY, DILATED, 1Z; CMD1Z		TNNC1
#611880 CARDIOMYOPATHY, DILATED, 2A; CMD2A;;CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE;;CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE		TNNI3
CILIARY DYSKINESIA, PRIMARY, 7; CILD7		DNAH11
16P11.2 MICRODELETION SYNDROME
IMMUNODEFICIENCY, GONADAL DYSGENESIS, AND PULMONARY FIBROSIS
#611936 CHROMOSOME 3Q29 DUPLICATION SYNDROME;;MICRODUPLICATION 3Q29 SYNDROME
#611938 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2;;VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC; VTSIP		CASQ2
611961 STEVENSON-CAREY SYNDROME
HUNTER-MACDONALD SYNDROME
CHROMOSOME 15Q13.3 MICRODELETION SYNDROME
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11		ACTC1
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12		CSRP3
#612158 CARDIOMYOPATHY, DILATED, 1AA; CMD1AA		ACTN2
#612199 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS; CRMCC;;COATS PLUS SYNDROME		CTC1
ATRIAL FIBRILLATION, FAMILIAL, 6		NPPA
#612240 ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7		KCNA5
#612304 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; THPH4;;PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE;;PROC DEFICIENCY, AUTOSOMAL RECESSIVE		PROC
#612347 JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2		KCNE1
HEPARIN COFACTOR II DEFICIENCY		SERPIND1
HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY,
#612394 BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS;;LYSYL HYDROXYLASE 3 DEFICIENCY;;LH3 DEFICIENCY		PLOD3
#612444 CILIARY DYSKINESIA, PRIMARY, 9; CILD9;;CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS		DNAI2
#612474 CHROMOSOME 1Q21.1 DELETION SYNDROME, 1.35-MB
#612475 CHROMOSOME 1Q21.1 DUPLICATION SYNDROME
#612513 CHROMOSOME 2P16.1-P15 DELETION SYNDROME
#612518 CILIARY DYSKINESIA, PRIMARY, 10; CILD10		DNAAF2
#612528 DIAMOND-BLACKFAN ANEMIA 5; DBA5		RPL35A
#612541 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4DURSUN SYNDROME, INCLUDED;;PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT,INCLUDED		G6PC3
#612561 DIAMOND-BLACKFAN ANEMIA 6; DBA6;;AASE-SMITH SYNDROME II;;AASE SYNDROME		RPL5
#612562 DIAMOND-BLACKFAN ANEMIA 7; DBA7		RPL11
#612572 RETINITIS PIGMENTOSA 46; RP46;;RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE, IDH3B-RELATED		IDH3B
#612582 CHROMOSOME 6PTER-P24 DELETION SYNDROME
#612626 CHROMOSOME 15Q26-QTER DELETION SYNDROME;;DRAYER SYNDROME
#612713 KAHRIZI SYNDROME; KHRZ;;MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE		SRD5A3
%612726 HARDIKAR SYNDROME
HYPOGLOSSIA WITH SITUS INVERSUS
#612794 ATRIAL SEPTAL DEFECT 5; ASD5		ACTC1
#612838 BRUGADA SYNDROME 5; BRGDA5CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED		SCN1B
6Q25 MICRODELETION SYNDROME
#612877 CARDIOMYOPATHY, DILATED, 1BB; CMD1BB		DSG2
#612918 CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMALNEVI;;CLOVE SYNDROME;;CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMALNEVI, AND SKELETAL/SPINAL ABNORMALITIES;;CLOVES SYNDROME		PIK3CA
#612922 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2;;AHUS, SUSCEPTIBILITY TO, 2
#612923 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS3;;AHUS, SUSCEPTIBILITY TO, 3
#612924 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS4;;AHUS, SUSCEPTIBILITY TO, 4
#612925 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5;;AHUS, SUSCEPTIBILITY TO, 5
#612926 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6; AHUS6;;AHUS, SUSCEPTIBILITY TO, 6
#612937 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IO; CDG1O;;CDG IO; CDGIO;;CDG1(DPM3)		DPM3
#612938 GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLYDEATH; GDFD		FTO
%612946 HADZISELIMOVIC SYNDROME;;MICROCEPHALY-FACIOCARDIOSKELETAL SYNDROME
#612954 MYOPATHY, MYOFIBRILLAR 6, MFM6;;MYOPATHY, MYOFIBRILLAR, BAG3-RELATED		BAG3
#612955 LONG QT SYNDROME 12; LQT12		SNTA1
#612956 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2		DPP6
#612998 EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4;;EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES		SYNE1
#612999 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5		SYNE2
%613001 ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL
#613026 CHROMOSOME 19Q13.11 DELETION SYNDROME
DURSUN SYNDROME
#613087 ATRIAL SEPTAL DEFECT 6; ASD6		TLL1
CLAPO SYNDROME
#613122 CARDIOMYOPATHY, DILATED, 1CC; CMD1CC		NEXN
#613153 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5; MDDGA5;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED		FKRP
#613155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1; MDDGB1;;MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED		POMT1
#613156 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2; MDDGB2;;MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED		POMT2
#613158 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2;;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2N; LGMD2N;;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED		POMT2
#613159 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1		XPNPEP3
#613177 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC; ARCL1C;;CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES;;URBAN-RIFKIN-DAVIS SYNDROME; URDS		LTBP4
#613179 PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY;;NUCLEOSIDE PHOSPHORYLASE DEFICIENCY		PNP
#613193 CILIARY DYSKINESIA, PRIMARY, 13; CILD13;;CILIARY DYSKINESIA, PRIMARY, 13, WITH OR WITHOUT SITUS INVERSUS		DNAAF1
#613205 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED;;MDCL		LMNA
#613224 NOONAN SYNDROME 6; NS6		NRAS
#613225 FACTOR XIII, A SUBUNIT, DEFICIENCY OF		F13A1
#613243 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13; CMH13		TNNC1
#613251 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14; CMH14		MYH6
#613252 CARDIOMYOPATHY, DILATED, 1EE; CMD1EE		MYH6
#613254 TUBEROUS SCLEROSIS 2; TSC2TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDED		TSC2
#613255 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15; CMH15		VCL
#613286 CARDIOMYOPATHY, DILATED, 1FF; CMD1FF		TNNI3
#613327 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4;;BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 4, WITH MUSCULARDYSTROPHY;;LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 4, WITH MUSCULARDYSTROPHY		PTRF
#613355 CHROMOSOME 17Q23.1-Q23.2 DELETION SYNDROME
#613390 FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO		RAD51C
#613398 WARSAW BREAKAGE SYNDROME; WABS		DDX11
#613404 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2		VIPAS39
#613406 CHROMOSOME 15Q24 DELETION SYNDROMECHROMOSOME 15Q24 DUPLICATION SYNDROME, INCLUDED
CARDIOMYOPATHY, DILATED, 1R; CMD1R		ACTC1
#613426 CARDIOMYOPATHY, DILATED, 1S; CMD1SLEFT VENTRICULAR NONCOMPACTION 5, INCLUDED; LVNC5, INCLUDED		MYH7
#613457 CHROMOSOME 14Q11-Q22 DELETION SYNDROME
#613458 CHROMOSOME 16P13.3 DUPLICATION SYNDROME
#613471 REYNOLDS SYNDROME;;PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA		LBR
#613507 GLYCOGEN STORAGE DISEASE XV; GSD15;;GSD XV;;GLYCOGENIN DEFICIENCY;;GYG1 DEFICIENCY		GYG1
#613561 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2		YARS2
%613576 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2; EDSS2
#613582 RETINITIS PIGMENTOSA 57; RP57		PDE6G
#613604 CHROMOSOME 16P12.2-P11.2 DELETION SYNDROME, 7.1- TO 8.7-MB
#613611 CHOANAL ATRESIA AND LYMPHEDEMA		PTPN14
613623 AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA
#613673 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; CDAN4		KLF1
#613675 CHROMOSOME 17Q11.2 DELETION SYNDROME, 1.4-MB;;NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME;;NF1 MICRODELETION SYNDROMENF1 MICRODUPLICATION SYNDROME, INCLUDED
#613679 PROTHROMBIN DEFICIENCY, CONGENITAL;;HYPOPROTHROMBINEMIADYSPROTHROMBINEMIA, INCLUDED		F2
%613680 MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIACAND GENITOURINARY MALFORMATIONS
#613688 LONG QT SYNDROME 2; LQT2LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;;LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED		KCNH2
#613690 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7		TNNI3
#613693 LONG QT SYNDROME 6; LQT6LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 3/6, DIGENIC, INCLUDED; LQT3/6, DIGENIC, INCLUDED		KCNE2
#613694 CARDIOMYOPATHY, DILATED, 1U; CMD1U		PSEN1
#613695 LONG QT SYNDROME 5; LQT5LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;;LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED		KCNE1
CARDIOMYOPATHY, DILATED, 1V		PSEN2
DISTAL 7Q11.23 MICRODELETION SYNDROME
HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY		AHCY
#613759 INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, ANDCARDIOVASCULAR MALFORMATIONS;;FADD DEFICIENCY		FADD
#613780 AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7;;AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM		MYLK
#613792 CHROMOSOME 3PTER-P25 DELETION SYNDROME;;3P- SYNDROME
#613795 LOEYS-DIETZ SYNDROME, TYPE 3; LDS3;;ANEURYSMS-OSTEOARTHRITIS SYNDROME;;LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS;;LOEYS-DIETZ SYNDROME, TYPE 1C, FORMERLY; LDS1C, FORMERLY		SMAD3
#613812 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3		CYP7B1
#613834 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME;;MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTICANEURYSM, AND VASCULOPATHY		ACTA2
#613838 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16; CMH16		MYOZ2
#613845 HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS;;HUPRA SYNDROME		SARS2
#613849 OSTEOGENESIS IMPERFECTA, TYPE XII; OI12;;OI, TYPE XII		SP7
#613873 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17; CMH17		JPH2
#613874 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18; CMH18		PLN
#613875 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19; CMH19		CALR3
#613876 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20; CMH20		NEXN
#613877 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4; FPLD4;;LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS		PLIN1
#613881 CARDIOMYOPATHY, DILATED, 1HH; CMD1HH		BAG3
#613884 CHROMOSOME 13Q14 DELETION SYNDROME;;CHROMOSOME 13Q DELETION SYNDROME
BETA-THALASSEMIA		LCRB ; HBB
#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
#614017 CILIARY DYSKINESIA, PRIMARY, 16; CILD16;;CILIARY DYSKINESIA, PRIMARY, 16, WITH OR WITHOUT SITUS INVERSUS		DNAL1
%614021 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3
#614022 ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10		SCN5A
#614025 HEPATIC LIPASE DEFICIENCY;;LIPC DEFICIENCY;;HL DEFICIENCY		LIPC
#614038 LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA;;EMBERGER SYNDROME		GATA2
#614049 ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11		GJA5
#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
#614080 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1		PIGN
#614089 ATRIAL SEPTAL DEFECT 3; ASD3		MYH6
#614096 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8;;CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE		AARS2
#614099 CRANIOECTODERMAL DYSPLASIA 3; CED3		IFT43
%614100 CUTIS LAXA, NEONATAL, WITH MARFANOID PHENOTYPE;;CUTIS LAXA-MARFANOID SYNDROME
#614114 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2		CEP57
#614132 CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATIONSYNDROME; CFSMR;;TMCO1 DEFECT SYNDROME		TMCO1
#614180 RETINITIS PIGMENTOSA 61; RP61		CLRN1
#614185 GELEOPHYSIC DYSPLASIA 2; GPHYSD2		FBN1
#614224 RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS;RAMSVPS		IGFBP7
%614261 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP
614262 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG
#614299 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2; MMDS2		BOLA3
#614300 HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY		ADK
#614302 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7		TMEM43
#614325 PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2		NRXN1
#614328 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL; NISBD		ADAM17
DENGUE FEVER
#614380 COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD;;C4A DEFICIENCY		C4A
%614407 MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECTSYNDROME; MCHCCD;;ZAKI-GLEESON SYNDROME
#614424 JOUBERT SYNDROME 14; JBTS14		TMEM237
#614429 VENTRICULAR SEPTAL DEFECT 1; VSD1		GATA4
#614431 VENTRICULAR SEPTAL DEFECT 2; VSD2		CITED2
#614432 VENTRICULAR SEPTAL DEFECT 3; VSD3		NKX2-5
#614435 HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2		NKX2-5
#614437 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B		EFEMP2
#614458 THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHYTYPE); THMD5;;ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY		TPK1
#614462 PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD		LIAS
#614473 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2		ABCC6
#614474 ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5		GATA6
#614475 ATRIAL SEPTAL DEFECT 9; ASD9		GATA6
#614483 PORENCEPHALY 2; POREN2		COL4A2
#614491 PSEUDOHYPOALDOSTERONISM, TYPE IIB; PHA2B		WNK4
#614492 PSEUDOHYPOALDOSTERONISM, TYPE IIC; PHA2C		WNK1
#614495 PSEUDOHYPOALDOSTERONISM, TYPE IID; PHA2D;;FAMILIAL HYPERKALEMIC HYPERTENSION; FHHT		KLHL3
#614496 PSEUDOHYPOALDOSTERONISM, TYPE IIE; PHA2E		CUL3
#614498 RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL; RMFSL		BRAT1
#614501 PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM;PMRED		SNIP1
#614526 CHROMOSOME 17Q12 DUPLICATION SYNDROME
#614527 CHROMOSOME 17Q12 DELETION SYNDROME
#614582 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		MRPL3
#614651 COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2		PDSS1
#614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6;;HSAN VI		DST
#614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5		COQ9
#614672 CARDIOMYOPATHY, DILATED, 2B; CMD2B		GATAD1
%614676 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 21; CMH21
#614679 CILIARY DYSKINESIA, PRIMARY, 17; CILD17;;CILIARY DYSKINESIA, PRIMARY, 17, WITH OR WITHOUT SITUS INVERSUS		CCDC103
%614684 HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES
#614702 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10;;CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS		MTO1
#614749 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2		PIGO
#614779 HETEROTAXY, VISCERAL, 6, AUTOSOMAL; HTX6		CCDC11
#614815 JOUBERT SYNDROME 18; JBTS18		TCTN3
#614816 LOEYS-DIETZ SYNDROME, TYPE 4; LDS4;;ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETALMANIFESTATIONS		TGFB2
#614819 WEILL-MARCHESANI SYNDROME 3; WMS3		LTBP2
#614823 AORTIC VALVE DISEASE 2; AOVD2;;BICUSPID AORTIC VALVE;;AORTIC VALVE STENOSIS		SMAD6
#614844 NEPHRONOPHTHISIS 14; NPHP14JOUBERT SYNDROME 19, INCLUDED; JBTS19, INCLUDED		ZNF423
#614857 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE; MAHCJ		ABCD4
#614868 T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS; TIIAC;;STK4 DEFICIENCY;;MST1 DEFICIENCY		STK4
#614874 CILIARY DYSKINESIA, PRIMARY, 18; CILD18;;CILIARY DYSKINESIA, PRIMARY, 18, WITH OR WITHOUT SITUS INVERSUS		HEATR2
#614876 PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 9, INCLUDED;CG9, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP D, INCLUDED;CGD, INCLUDED		PEX16
#614896 SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD		CACNA1D
#614900 DIAMOND-BLACKFAN ANEMIA 11; DBA11		RPL26
#614916 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4		CALM1
#614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT; CDG1T;;CDG IT; CDGIT		PGM1
#614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15		MTFMT
#614976 CARPENTER SYNDROME 2; CRPT2		MEGF8
#614980 CONGENITAL HEART DISEASE, MULTIPLE TYPES, 2; CHTD2		TAB2
#615057 BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME; BPIDS;;BPID SYNDROME;;BLEPHAROPHIMOSIS-PTOSIS-MENTAL RETARDATION SYNDROME		UBE3B
#615067 CILIARY DYSKINESIA, PRIMARY, 20; CILD20;;CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS		CCDC114
#615084 MITOCHONDRIAL DNA DEPLETION SYNDROME 11; MTDPS11		MGME1
%615102 TYSHCHENKO SYNDROME
#615147 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS		RBP4
#615184 CARDIOMYOPATHY, DILATED, 1II; CMD1II		CRYAB
48,XXYY SYNDROME
PORPHYRIA CUTANEA TARDA		UROD ; HFE
AUTOSOMAL RECESSIVE AMELIA
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME		CEP57 ; BUB1B
VEIN OF GALEN ANEURYSM
FETAL LEFT VENTRICULAR ANEURYSM
INTRACRANIAL ANEURYSMS - MULTIPLE CONGENITAL ANOMALIES
ANIRIDIA - PTOSIS - INTELLECTUAL DEFICIT - FAMILIAL OBESITY
SHORT STATURE - HEART DEFECT - CRANIOFACIAL ANOMALIES
PENTASOMY X
BARDET-BIEDL SYNDROME		MKKS ; SDCCAG8 ; WDPCP ; BBS5 ; BBS1 ; TRIM32 ; BBS2 ; ARL6 ; BBS4 ; CEP290 ; BBS12 ; LZTFL1 ; BBS10 ; MKS1 ; BBS7 ; BBS9 ; TTC8
ANOPHTHALMIA - MEGALOCORNEA - CARDIOPATHY - SKELETAL ANOMALIES
AORTIC ARCH DEFECTS
PULMONARY AORTIC STENOSIS OBSTRUCTIVE UROPATHY
ATAXIA - PHOTOSENSITIVITY - SHORT STATURE
BLACKFAN-DIAMOND ANEMIA		RPS24 ; RPS26 ; RPL35A ; RPL11 ; GATA1 ; RPS19 ; RPL26 ; RPS7 ; RPL5 ; RPS10 ; RPS17
BOTULISM
BRACHYDACTYLY - MESOMELIA - INTELLECTUAL DEFICIT - HEART DEFECTS
FEINGOLD SYNDROME		MYCN ; MIR17HG
COMPLETE ATRIOVENTRICULAR CANAL		GATA4 ; GATA6 ; CRELD1
CHRONIC MUCOCUTANEOUS CANDIDIASIS		IL17F ; IL17RA ; CLEC7A ; STAT1 ; CARD9 ; ICAM1
CARDIOMYOPATHY - CATARACT - HIP SPINE DISEASE
HEART-HAND SYNDROME TYPE 2
CARNEY COMPLEX		PRKAR1A
MICROCEPHALY - INTELLECTUAL DEFICIT - PHALANGEAL AND NEUROLOGICAL ANOMALIES
CATARACT - INTELLECTUAL DEFICIT - ANAL ATRESIA - URINARY DEFECTS
NIGHT BLINDNESS - SKELETAL ANOMALIES - DYSMORPHISM
DRUG RASH WITH EOSINOPHILIA AND SYSTEMIC SYMPTOMS
CAMPOMELIC DYSPLASIA		SOX9
LETHAL CHONDRODYSPLASIA, MOERMAN TYPE
LETHAL RECESSIVE CHONDRODYSPLASIA
DESBUQUOIS SYNDROME		CANT1
CHOROIDEREMIA - HYPOPITUITARISM
COFFIN-SIRIS SYNDROME		ARID1B ; ARID1A ; SMARCB1 ; SMARCA4
COGAN SYNDROME
INTERAURICULAR COMMUNICATION
SHORT RIB-POLYDACTYLY SYNDROME
CRANIOSYNOSTOSIS - SYNOSTOSES - HYPERTENSIVE NEPHROPATHY
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY		RBM20 ; PLN ; SCN5A ; VCL ; ACTC1 ; MYBPC3 ; TMPO ; SDHA ; SGCD ; MYPN ; PSEN1 ; MYH6 ; MYH7 ; TNNC1 ; TTN ; GATAD1 ; DSG2 ; DOLK ; ACTN2 ; TXNRD2 ; BAG3 ; TNNI3 ; NEXN ; TNNT2 ; TAZ ; PSEN2 ; DES ; FKTN ; ABCC9 ; CSRP3 ; TPM1 ; TCAP ; DMD ; FHL2 ; LDB3
CURRARINO TRIAD		MNX1
DANDY WALKER - FACIAL HEMANGIOMA
CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY
KNOBLOCH SYNDROME		COL18A1 ; ADAMTS18
COMMON VARIABLE IMMUNODEFICIENCY
DISTAL MONOSOMY 17Q
DELETION 4Q
FEBRILE INFECTION-RELATED EPILEPSY SYNDROME
DISTAL MONOSOMY 9P
NEUTRAL LIPID STORAGE DISEASE
DIPROSOPIA
NON-DISTAL TRISOMY 10Q
TRISOMY 12P
WOOLLY HAIR		KRT71 ; KRT74 ; LIPH ; LPAR6
MOSAIC TRISOMY 14
DISTAL TRISOMY 14Q
DISTAL TRISOMY 15Q
DISTAL TRISOMY 18Q
6Q16 DELETION SYNDROME		SIM1
CRANIOSYNOSTOSIS - HYDROCEPHALUS - CHIARI I MALFORMATION - RADIOULNAR SYNOSTOSIS
TRISOMY 4P
DUPLICATION 4Q
DISTAL TRISOMY 6P
TRISOMY 8Q
THORACO-ABDOMINAL ENTERIC DUPLICATION
NON-RHIZOMELIC CHONDRODYSPLASIA PUNCTATA
WOUND BOTULISM
INFANT BOTULISM
CHURG-STRAUSS SYNDROME
MELORHEOSTOSIS WITH OSTEOPOIKILOSIS		LEMD3
SYSTEMIC CAPILLARY LEAK SYNDROME
ECTOPIA LENTIS SYNDROME		FBN1 ; ADAMTSL4
ECTRODACTYLY - SPINA BIFIDA - CARDIOPATHY
PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE		PDE11A ; PRKAR1A ; PDE8B
AMINOPTERIN/METHOTREXATE EMBRYOFETOPATHY
INDOMETHACIN EMBRYOFETOPATHY
COCKAYNE SYNDROME
COCAINE EMBRYOFETOPATHY
FETAL HYDANTOIN SYNDROME		EPHX1
FETAL TRIMETHADIONE SYNDROME
EMBRYOFETOPATHY DUE TO ORAL ANTICOAGULANT THERAPY
FETAL ALCOHOL SYNDROME
FETAL MINOXIDIL SYNDROME
METHIMAZOLE EMBRYOFETOPATHY
DIABETIC EMBRYOPATHY
SHOULDER AND THORAX DEFORMITY - CONGENITAL HEART DISEASE
ERYTHROMELALGIA		SCN9A
FACES SYNDROME
FACIO-SKELETAL-GENITAL SYNDROME, RIPPBERGER TYPE
CORNELIA DE LANGE SYNDROME		SMC1A ; HDAC8 ; SMC3 ; NIPBL ; RAD21
LARYNGO-TRACHEO-ESOPHAGEAL CLEFT - PULMONARY HYPOPLASIA
COWDEN SYNDROME		AKT1 ; SDHD ; PIK3CA ; SDHB ; KLLN ; PTEN
MULTIPLE NON-OSSIFYING FIBROMATOSIS
MULTIFOCAL MUSCULAR FIBROSIS - OBSTRUCTED VESSELS
NARCOLEPSY-CATAPLEXY		HLA-DQB1 ; HLA-DRB1 ; MOG ; HCRT
CUTIS LAXA
GRIX-BLANKENSHIP-PETERSON SYNDROME
CYSTIC HAMARTOMA OF LUNG AND KIDNEY
DIFFUSE NEONATAL HEMANGIOMATOSIS
CYSTINOSIS		CTNS
HIRSCHSPRUNG DISEASE - GANGLIONEUROBLASTOMA
NEURONAL CEROID LIPOFUSCINOSIS
HOLOACARDIUS AMORPHUS
HOLOPROSENCEPHALY - CAUDAL DYSGENESIS
HYDROCEPHALY - LOW INSERTION UMBILICUS
HYDROLETHALUS		KIF7 ; HYLS1
CONGENITAL HYDRONEPHROSIS
XERODERMA PIGMENTOSUM/COCKAYNE SYNDROME COMPLEX		ERCC2 ; ERCC3 ; ERCC5
DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS		CTGF ; IRF5 ; HLA-DRB1 ; CAV1
LIMITED CUTANEOUS SYSTEMIC SCLEROSIS		CTGF ; IRF5 ; HLA-DRB1 ; CAV1
JOUBERT SYNDROME WITH OCULAR DEFECT		CEP41 ; AHI1 ; TMEM237 ; KIF7 ; TMEM231
JOUBERT SYNDROME WITH RENAL DEFECT		NPHP1 ; ATXN10 ; TMEM237 ; RPGRIP1L ; TCTN2
DERMATOMYOSITIS
HYPOGONADISM - MITRAL VALVE PROLAPSE - INTELLECTUAL DEFICIT
FAMILIAL ISOLATED HYPOPARATHYROIDISM
HYPOPLASTIC LEFT HEART SYNDROME		GJA1 ; NKX2-5
CONGENITAL UNILATERAL PULMONARY HYPOPLASIA
HUGHES-STOVIN SYNDROME
DYSMORPHISM - SHORT STATURE - DEAFNESS - DISORDER OF SEX DEVELOPMENT
FOODBORNE BOTULISM
PTOSIS - UPPER OCULAR MOVEMENT LIMITATION - ABSENCE OF LACRIMAL PUNCTUM
8Q12 MICRODUPLICATION SYNDROME
AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS		HES7 ; DLL3 ; LFNG ; MESP2
JOUBERT SYNDROME WITH OCULORENAL DEFECT		ZNF423 ; TMEM216 ; TMEM237 ; CC2D2A ; CEP290 ; TMEM138
KABUKI SYNDROME		KMT2D ; KDM6A
KALLMANN SYNDROME - HEART DISEASE
ISOLATED KLIPPEL-FEIL SYNDROME		MEOX1 ; GDF3 ; GDF6
ANGIO-OSTEOHYPERTROPHIC SYNDROME
KOUSSEFF SYNDROME
1Q44 MICRODELETION SYNDROME
CONGENITAL PRIMARY LYMPHEDEMA
INTRACRANIAL ARTERIOVENOUS MALFORMATION
SYSTEMIC MASTOCYTOSIS
MEDEIRA-DENNIS-DONNAI SYNDROME
MEGALENCEPHALY
TRANSVERSE LIMB DEFICIENCY - HEMANGIOMA
LOWER LIMB DEFICIENCY - HYPOSPADIAS
2Q31.1 MICRODELETION SYNDROME
6P22 MICRODELETION SYNDROME
8P11.2 DELETION SYNDROME		ANK1
8P23.1 MICRODELETION SYNDROME		GATA4
8P23.1 MICRODUPLICATION SYNDROME
MICROCEPHALY - SEIZURES - INTELLECTUAL DEFICIT - HEART DISEASE
MICROCORNEA - CORECTOPIA - MACULAR HYPOPLASIA
19P13.12 MICRODELETION SYNDROME
MICROPHTHALMIA - MICROTIA - FETAL AKINESIA
MIDAS SYNDROMEMICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME		HCCS ; COX7B
MOYAMOYA DISEASE		RNF213 ; ACTA2
EMERY-DREIFUSS MUSCULAR DYSTROPHY
LINEAR VERRUCOUS NEVUS SYNDROME
15Q14 MICRODELETION SYNDROME
16P13.11 MICRODELETION SYNDROME
16P13.11 MICRODUPLICATION SYNDROME
16Q24.3 MICRODELETION SYNDROME		ANKRD11
TRISOMY 17P
20P12.3 MICRODELETION SYNDROME		BMP2
TRISOMY 20P
DISTAL 22Q11.2 MICRODUPLICATION SYNDROME
TRISOMY 1Q
3M SYNDROME		OBSL1 ; CCDC8 ; CUL7
DUCHENNE AND BECKER MUSCULAR DYSTROPHY
GELEOPHYSIC DYSPLASIA		FBN1 ; ADAMTSL2
THANATOPHORIC DYSPLASIA
MYCOPHENOLATE MOFETIL EMBRYOPATHY
FACIOSCAPULOHUMERAL DYSTROPHY		SMCHD1 ; SLC25A4 ; FRG1 ; DUX4
ARTHROGRYPOSIS - RENAL DYSFUNCTION - CHOLESTASIS		VIPAS39 ; VPS33B
OCHOA SYNDROME		LRIG2 ; HPSE2
OCULO-CEREBRO-ACRAL SYNDROME
OCULODENTODIGITAL DYSPLASIA		GJA1
OCULO-SKELETAL-RENAL SYNDROME
JOUBERT SYNDROME WITH OROFACIODIGITAL DEFECT		TCTN3 ; OFD1 ; TMEM216 ; KIF7
10Q22.3Q23.3 MICRODELETION SYNDROME
10Q22.3Q23.3 MICRODUPLICATION SYNDROME
SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS
JUVENILE CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS
PACHYDERMOPERIOSTOSIS		HPGD ; SLCO2A1
STIFF SKIN SYNDROME		FBN1
PENOSCROTAL TRANSPOSITION
CONGENITAL PERICARDIUM ANOMALY
PERICARDIAL AND DIAPHRAGMATIC DEFECT
SERPENTINE FIBULA - POLYCYSTIC KIDNEYS
SHORT STATURE - MICROCEPHALY - HEART DEFECT
SHORT STATURE - WEBBED NECK - HEART DISEASE
EHLERS-DANLOS SYNDROME, CLASSIC TYPE
PHAKOMATOSIS PIGMENTOVASCULARIS
PILOTTO SYNDROME
CONGENITAL RUBELLA SYNDROME
POEMS SYNDROME
REACTIVE ARTHRITIS
POLYNEUROPATHY - HEPATOSPLENOMEGALY - HYPERPIGMENTATION
POLYNEUROPATHY - INTELLECTUAL DEFICIT - ACROMICRIA - PREMATURE MENOPAUSE
FETAL PARVOVIRUS SYNDROME
CHRONIC INTESTINAL PSEUDO-OBSTRUCTION		FLNA
PSEUDO-ZELLWEGER SYNDROME
BARAITSER-WINTER SYNDROME		ACTG1 ; ACTB
DYSTROPHIC EPIDERMOLYSIS BULLOSA
RENAL TUBULAR DYSGENESIS
INTELLECTUAL DEFICIT - MICROCEPHALY - PHALANGEAL - FACIAL ABNORMALITIES
ROBERTS SYNDROME		ESCO2
SENIOR-LOKEN SYNDROME		NPHP4 ; INVS ; CEP164 ; SDCCAG8 ; NPHP1 ; NPHP3 ; IQCB1 ; CEP290
INFANTILE SPASMS - BROAD THUMBS
CONGENITAL PULMONARY VEINS STENOSIS
LUJO HEMORRHAGIC FEVER
EBOLA HEMORRHAGIC FEVER
RIFT VALLEY FEVER
STERNAL MALFORMATION - VASCULAR DYSPLASIA
MULTIPLE OSTEOCHONDROMAS		EXT2 ; EXT1
DEAFNESS - ONYCHODYSTROPHY
HIS BUNDLE TACHYCARDIA
CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA		RYR2 ; CALM1 ; TRDN ; CASQ2
THALIDOMIDE EMBRYOPATHY
THOMAS SYNDROME
ESSENTIAL THROMBOCYTHEMIA		JAK2 ; MPL ; TET2 ; TP53
WALDENSTRÖM MACROGLOBULINEMIA
THROMBOCYTOPENIA - ROBIN SEQUENCE
TORRES-AYBAR SYNDROME
TRACHEAL AGENESIS
TREFT-SANBORN-CAREY SYNDROME
TRIPLOIDY
TRISOMY 13
TRISOMY 18
HEMORRHAGIC FEVER - RENAL SYNDROME
UMBILICAL CORD ULCERATION - INTESTINAL ATRESIA
VIRAL HEMORRHAGIC FEVER
VACTERL WITH HYDROCEPHALUS		FANCB
VAN REGEMORTER-PIERQUIN-VAMOS SYNDROME
FAMILIAL MEDITERRANEAN FEVER		MEFV
WEAVER SYNDROME		EZH2 ; NSD1
WEILL-MARCHESANI SYNDROME		FBN1 ; ADAMTS17 ; LTBP2 ; ADAMTS10
WHIPPLE DISEASE
WOLFRAM SYNDROME		WFS1 ; CISD2
GM1 GANGLIOSIDOSIS
GAUCHER DISEASE
ERDHEIM-CHESTER DISEASE
HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY
SCHNITZLER SYNDROME
CONGENITAL ADRENAL HYPERPLASIA
CONGENITAL HYPOTHYROIDISM
JOUBERT SYNDROME		CEP41 ; TCTN1 ; TMEM67 ; ARL13B ; TMEM237 ; KIF7 ; INPP5E ; TMEM231 ; C5ORF42
KALLMANN SYNDROME		FGF8 ; WDR11 ; HS6ST1 ; KAL1 ; PROK2 ; SEMA3A ; NSMF ; FGFR1 ; PROKR2 ; CHD7
NODULAR REGENERATIVE HYPERPLASIA OF THE LIVER
PRIMARY EFFUSION LYMPHOMA
LEOPARD SYNDROME		PTPN11 ; RAF1 ; BRAF
ALAGILLE SYNDROME
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY		BSCL2 ; AGPAT2 ; CAV1
LYELL SYNDROME
TUMORAL CALCINOSIS
WYBURN-MASON SYNDROME
COBB SYNDROME
LEGIONELLOSIS
CUSHING SYNDROME
MARFAN SYNDROME
MECKEL SYNDROME		IFT88 ; TMEM216 ; WDPCP ; CC2D2A ; RPGRIP1 ; CEP290 ; B9D1 ; TMEM231 ; MKS1 ; TMEM67 ; B9D2 ; RPGRIP1L ; TCTN2
22Q11.2 DELETION SYNDROME		HIRA ; GP1BB ; COMT ; TBX1 ; UFD1L ; ARVCF
MICROPHTHALMIA, LENZ TYPE		BCOR
MUCOLIPIDOSIS TYPE 3		GNPTG ; GNPTAB
MUCOPOLYSACCHARIDOSIS TYPE 1
MUCOPOLYSACCHARIDOSIS TYPE 4
RHOMBENCEPHALOSYNAPSIS
X-LINKED CENTRONUCLEAR MYOPATHY		MAMLD1 ; MTM1
ISOLATED 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY		MCCC2 ; MCCC1
LOEYS-DIETZ SYNDROME TYPE 1		TGFBR2 ; TGFBR1
INIENCEPHALY
NEUROFIBROMATOSIS TYPE 1		NF1
SCHISIS ASSOCIATION
NOONAN SYNDROME		PTPN11 ; CBL ; SOS1 ; NF1 ; RAF1 ; NRAS ; KRAS ; KAT6B ; BRAF
LCAT DEFICIENCY
MULTIPLE ENDOCRINE NEOPLASIA TYPE 2
NEPHROBLASTOMA		DIS3L2 ; POU6F2 ; H19 ; WT1
OSTEOGENESIS IMPERFECTA
CUTANEOUS MASTOCYTOSIS
AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS		TNFSF11 ; CLCN7 ; OSTM1 ; SNX10 ; TNFRSF11A ; TCIRG1
PELIZAEUS-MERZBACHER DISEASE
FAMILIAL THROMBOCYTOSIS		JAK2 ; MPL ; THPO
MICROSCOPIC POLYANGIITIS
RELAPSING POLYCHONDRITIS
POLYMYOSITIS
HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY		PROS1
HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY		PROC
BRAIN MALFORMATION - CONGENITAL HEART DISEASE - POSTAXIAL POLYDACTYLY
PSEUDOHYPOALDOSTERONISM TYPE 2
PSEUDOXANTHOMA ELASTICUM		ABCC6
HENOCH-SCHÖNLEIN PURPURA
POLYARTERITIS NODOSA
FAMILIAL LONG QT SYNDROME		CALM2 ; CALM1
RABIES
INFANTILE REFSUM DISEASE		PEX19 ; PEX2 ; PEX12 ; PEX10 ; PEX14 ; PEX16 ; PEX5 ; PEX13 ; PEX1 ; PEX3 ; PEX6 ; PEX11B ; PEX26
REFSUM DISEASE		PHYH ; PEX7
RENDU-OSLER-WEBER DISEASE		ENG ; SMAD4 ; ACVRL1
AXENFELD-RIEGER SYNDROME		FOXC1 ; PITX2
RUBINSTEIN-TAYBI SYNDROME		EP300 ; CREBBP
FAMILIAL PARTIAL LIPODYSTROPHY DUE TO AKT2 MUTATIONS		AKT2
RETINITIS PIGMENTOSA		LRAT ; PRCD ; MERTK ; RPGR ; RP2 ; RP1 ; RP9 ; PRPF6 ; CERKL ; ARL6 ; TULP1 ; RP1L1 ; SEMA4A ; GUCA1B ; USH2A ; PRPH2 ; IDH3B ; IMPG2 ; ABCA4 ; ROM1 ; SPATA7 ; CLRN1 ; FAM161A ; RHO ; PRPF31 ; CRX ; PRPF8 ; CNGA1 ; DHDDS ; CNGB1 ; SAG ; NR2E3 ; NRL ; EYS ; AIPL1 ; RGR ; MAK ; KLHL7 ; RPE65 ; C2ORF71 ; FSCN2 ; SNRNP200 ; ZNF513 ; CYP4V2 ; PDE6B ; C8ORF37 ; CA4 ; TOPORS ; PRPF3 ; RLBP1 ; TTC8 ; RBP3 ; IMPDH1 ; BEST1 ; PROM1 ; RDH12 ; PDE6A ; OFD1 ; PDE6G ; CRB1
HEMOCHROMATOSIS TYPE 2		HAMP ; HFE2
SAPHO SYNDROME
HERMANSKY-PUDLAK SYNDROME
SCLERODERMA
TUBEROUS SCLEROSIS		TSC1 ; TSC2
MIXED CONNECTIVE TISSUE DISEASE
ANTISYNTHETASE SYNDROME
SILVER-RUSSELL SYNDROME
SOTOS SYNDROME		NSD1 ; NFIX
ISOLATED SPINA BIFIDA
STICKLER SYNDROME
ADULT STILL'S DISEASE
SCRUB TYPHUS
FANCONI ANEMIA		FANCL ; FANCA ; SLX4 ; BRCA2 ; BRIP1 ; FANCB ; FANCG ; FANCF ; FANCI ; FANCD2 ; FANCC ; FANCE ; FANCM ; PALB2 ; RAD51C
FIBRONECTIN GLOMERULOPATHY		FN1
CONGENITAL TOXOPLASMOSIS
TREACHER-COLLINS SYNDROME		TCOF1 ; POLR1D ; POLR1C
TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY		TPI1
FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT		SCN5A ; TRPM4 ; NKX2-5
TURNER SYNDROME
USHER SYNDROME
MYOPATHY DUE TO CALSEQUESTRIN AND SERCA1 PROTEIN OVERLOAD
AORTIC DILATATION - JOINT HYPERMOBILITY - ARTERIAL TORTUOSITY		TGFBR2
OBESITY - COLITIS - HYPOTHYROIDISM - CARDIAC HYPERTROPHY - DEVELOPMENTAL DELAY
WAARDENBURG SYNDROME TYPE 2		SOX10 ; TYR ; MITF ; SNAI2
TETRASOMY X
ERYTHEMA ELEVATUM DIUTINUM
AUTOIMMUNE HEMOLYTIC ANEMIA, WARM TYPE
MIXED-TYPE AUTOIMMUNE HEMOLYTIC ANEMIA
DRUG-INDUCED AUTOIMMUNE HEMOLYTIC ANEMIA
VON WILLEBRAND DISEASE
AUTOSOMAL DOMINANT CUTIS LAXA		ELN ; FBLN5
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1		FBLN5 ; EFEMP2
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2		ATP6V0A2 ; PYCR1
BRITTLE CORNEA SYNDROME		PRDM5 ; ZNF469
PRIMARY INTESTINAL LYMPHANGIECTASIA
WISKOTT-ALDRICH SYNDROME		WAS ; WIPF1
STICKLER SYNDROME TYPE 1		COL2A1
XERODERMA PIGMENTOSUM
ZELLWEGER SYNDROME		PEX19 ; PEX2 ; PEX12 ; PEX10 ; PEX14 ; PEX16 ; PEX5 ; PEX13 ; PEX1 ; PEX3 ; PEX6 ; PEX11B ; PEX26
AARSKOG-SCOTT SYNDROME		FGD1
LYME DISEASE
ACHONDROGENESIS
THANATOPHORIC DWARFISM TYPE II		FGFR3
JUVENILE DERMATOMYOSITIS
HAMEL CEREBRO-PALATO-CARDIAC SYNDROME		PQBP1
X-LINKED INTELLECTUAL DEFICIT, GOLABI-ITO-HALL TYPE		PQBP1
SEVERE INTELLECTUAL DEFICIT - EPILEPSY - ANAL ANOMALIES - DISTAL PHALANGEAL HYPOPLASIA
ACALVARIA
ANGIOMA SERPIGINOSUM
ACROOSTEOLYSIS DOMINANT TYPE		NOTCH2
ACRO-PECTORO-RENAL DYSPLASIA
MOSAIC TRISOMY 8
DISTAL MONOSOMY 19P13.3
KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION		EHMT1
48,XXXY SYNDROME
49,XXXXY SYNDROME
BROWN-VIALETTO-VAN LAERE SYNDROME		SLC52A3 ; SLC52A2
ADAMS-OLIVER SYNDROME		DOCK6 ; EOGT ; RBPJ ; ARHGAP31
VON HIPPEL ANOMALY
PAGOD SYNDROME
TYPHOID
MOSAIC TRISOMY 9
LASSA FEVER
NIPAH VIRUS DISEASE
MARBURG HEMORRHAGIC FEVER
CRIMEAN-CONGO HEMORRHAGIC FEVER
YELLOW FEVER
EOSINOPHILIC GRANULOMA
CUSHING SYNDROME DUE TO ECTOPIC ACTH SECRETION