HEAD AND NECK

BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ATROPHODERMA VERMICULATUM, ?LICHTENSTEIN-KNORR SYNDROME, BASAL CELL NEVUS SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, MECKEL SYNDROME 4, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, {PARKINSON DISEASE 8}, SENIOR-LOKEN SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, CINCA SYNDROME, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, DYSTONIA-11, MYOCLONIC, AMINOACYLASE 1 DEFICIENCY, GILLESPIE SYNDROME, CAMURATI-ENGELMANN DISEASE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), DEJERINE-SOTTAS DISEASE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FRONTOMETAPHYSEAL DYSPLASIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, PITT-HOPKINS SYNDROME, TOOTH AGENESIS, SELECTIVE, 7, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, JOUBERT SYNDROME 5, LOEYS-DIETZ SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SPINOCEREBELLAR ATAXIA 15, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, FOVEAL HYPOPLASIA 1, PARKINSON DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CHOANAL ATRESIA AND LYMPHEDEMA, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ADAMS-OLIVER SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MICROPHTHALMIA, SYNDROMIC 6, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, OHDO SYNDROME, X-LINKED, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, WAARDENBURG SYNDROME, TYPE 3, HERMANSKY-PUDLAK SYNDROME 2, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CHOROID PLEXUS PAPILLOMA, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, WEAVER SYNDROME, PALLISTER-HALL SYNDROME, FUMARASE DEFICIENCY, TIMOTHY SYNDROME, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, IMMUNODEFICIENCY 33, ?MYOPATHY, SCAPULOHUMEROPERONEAL, OTOPALATODIGITAL SYNDROME, TYPE I, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, COFFIN-SIRIS SYNDROME 4, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, WISKOTT-ALDRICH SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, DEAFNESS, AUTOSOMAL DOMINANT 64, WAARDENBURG SYNDROME, TYPE 1, EXUDATIVE VITREORETINOPATHY 4, DARIER DISEASE, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, TRABOULSI SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, WAGNER SYNDROME 1, ROBINOW SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, INCONTINENTIA PIGMENTI, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DEAFNESS, X-LINKED 5, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, LUJAN-FRYNS SYNDROME, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, ?IMMUNODEFICIENCY 37, HYPOBETALIPOPROTEINEMIA, CONGENITAL DISORDER OF DEGLYCOSYLATION, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, CRANIOSYNOSTOSIS 6, DEAFNESS, AUTOSOMAL RECESSIVE 68, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, WAARDENBURG SYNDROME, TYPE 2D, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, DIAMOND-BLACKFAN ANEMIA 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LOEYS-DIETZ SYNDROME 4, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

APOE, PEX14, EZH2, PARK7, APOB, CDK5, PDE4D, NGLY1, ACTB, IKBKG, GLI3, CAV1, KRIT1, AGT, PPARG, CTNNB1, LRRK2, SOX2, PRKAR1A, UBA1, CDH1, WNT5A, NLRP12, CDKN2A, IL1B, FH, EPS8, PROK2, SUFU, SMARCA4, BMPER, PIK3CA, BMP4, ACY1, S1PR2, SNAI2, EMD, DRD2, IGF1, CREBBP, WWOX, RBPJ, PTEN, ACTA1, SOX9, APOA2, GNAQ, ERBB3, GLI2, TUBA1A, AR, NOTCH1, THRA, MRPL44, LRP1, GATA2, EDNRA, CHRM3, MEF2C, EDA, LEP, AKT2, VCAN, IFNG, AIFM1, CCND1, MET, NFKBIA, STAT1, IRF8, GLIS3, EEF1A2, ITPR1, TGFB3, HSPD1, GJB1, TNFRSF1A, TMEM173, SYN1, PCNA, STAT3, DUSP6, INS, DNM1L, LRP6, EDN1, TGFBR1, ITGB3, DVL1, GJA1, TGFB2, EP300, SMAD4, ZIC1, DVL3, CEP290, CD40LG, HDAC6, LRP5, SH3TC2, NFKB2, VHL, PPP2R1A, TUBB, VPS35, BRCA1, AKT1, CCND2, SLC9A1, VDR, DDX58, ATXN1, AXIN2, TP53, LRP2, MED17, PAX6, LRPAP1, ASPH, EIF2B2, SNCA, EDAR, RPS19, NF1, F13A1, DIABLO, NOD2, BTK, ITGA6, RUNX2, PRKDC, FLNA, NGF, RAB23, PAX3, ALB, EIF2B1, TGFB1, STXBP1, PTPN11, PTPN14, SPG7, BCL10, WAS, PRKACA, CACNA1C, TCF4, PCNT, MED12, RBCK1, DNMT1, IL6, EDARADD, BDNF, GRIN2B, HRAS, EGFR, AP3B1, SMAD3, ATP2A2, NLRP3, PIK3R1, MMP1, MTOR, SHH

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, RETINITIS PIGMENTOSA-40, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, JOUBERT SYNDROME 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CARASIL SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ?RETINAL ARTERIES, TORTUOSITY OF, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, RENAL TUBULAR DYSGENESIS, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, GLANZMANN THROMBASTHENIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, GILLESPIE SYNDROME, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, HAY-WELLS SYNDROME, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, SEBASTIAN SYNDROME, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, BRACHYDACTYLY, TYPE E2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, RETINITIS PIGMENTOSA 13, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, DEAFNESS, AUTOSOMAL DOMINANT 17, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, ADAMS-OLIVER SYNDROME 2, RETINITIS PIGMENTOSA 45, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, FRAGILE X SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, CHERUBISM, MYOPATHY, DISTAL, TATEYAMA TYPE, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, CROUZON SYNDROME, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CHEDIAK-HIGASHI SYNDROME, {OROFACIAL CLEFT 6}, DANON DISEASE, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, CORNEAL DYSTROPHY, AVELLINO TYPE, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA 14, ?SPINOCEREBELLAR ATAXIA 26, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, LEOPARD SYNDROME 3, STORMORKEN SYNDROME, CORNEAL DYSTROPHY, CONGENITAL STROMAL, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, NOONAN SYNDROME 9, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, FRAXE, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MYOPATHY, TUBULAR AGGREGATE, 2, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, SEGAWA SYNDROME, RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, KNOBLOCH SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, FRAGILE X TREMOR/ATAXIA SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPSTEIN SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SED CONGENITA, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, COMPLEMENT FACTOR I DEFICIENCY, ADULT SYNDROME, HYPOBETALIPOPROTEINEMIA, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, LEOPARD SYNDROME 1, IMMUNODEFICIENCY 10, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, HERMANSKY-PUDLAK SYNDROME 7, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, MACULAR DYSTROPHY, PATTERNED, 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, ANGIOEDEMA, HEREDITARY, TYPE III, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, WERNER SYNDROME, FECHTNER SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, DEJERINE-SOTTAS DISEASE, LOEYS-DIETZ SYNDROME 5, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, RETINITIS PIGMENTOSA 38, CAPOS SYNDROME, VAN DER WOUDE SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, PARKINSON DISEASE 1, ?MENTAL RETARDATION, X-LINKED 100, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LIMB-MAMMARY SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, BETHLEM MYOPATHY 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, COMBINED SAP DEFICIENCY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, TANGIER DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, PHYTANIC ACID STORAGE DISEASE, FACTOR VII DEFICIENCY, SMITH-KINGSMORE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, RENAL ADYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, CUTIS LAXA, AD, LADD SYNDROME, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, MASA SYNDROME, CRASH SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, IMMUNODEFICIENCY 9, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 5, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, STROMME SYNDROME, TRIGONOCEPHALY 1, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, OCULODENTODIGITAL DYSPLASIA, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, BLEEDING DISORDER, PLATELET-TYPE, 15, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, JACKSON-WEISS SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, DYSTONIA-12, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, ?BARDET-BIEDL SYNDROME 11, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SENIOR-LOKEN SYNDROME-1, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, HERMANSKY-PUDLAK SYNDROME 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 6, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, TREACHER COLLINS SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, BRCA2, ADRA2B, CAV1, SHH, LAMA1, RASGRP2, CDK5, PRPF8, MPDZ, ATP2B3, GP1BA, P2RY12, ACTB, ITGB4, STIM1, GNAS, KRAS, IKBKG, GLI3, NPHP1, ALDOA, STAT1, MAG, AGT, TGFBI, MYO5A, PPARG, ATP1A2, AGTR1, PROS1, MFN2, SOX2, PRKAR1A, PHYH, ALB, CDH1, CLDN1, APOB, TNFRSF11A, LRPAP1, MYH7, COL18A1, STK11, COL6A1, CDKN2A, PDE10A, P4HB, EGR2, HGF, ITGA3, PRF1, CLASP1, TGFBR1, EPS8, SPTAN1, COL1A1, DNM2, DES, PIK3CA, TRIM32, PTPN11, BMP4, BLOC1S6, WAS, GFI1B, ARHGDIA, TGFBR2, IGF1, ADCY6, GATA3, COL2A1, CTNNB1, MUSK, KDM1A, ACTA1, DNM1, EDNRA, F7, TGFB2, ACVR1, FBLN5, ERBB3, CBL, PAX6, PTPRC, SERPINA1, CAPN3, ISG15, ORAI1, WRN, NOTCH1, NRAS, GP1BB, LRP1, PROC, CENPF, GATA2, FGFR1, PRKACG, SH3BP2, MMP1, SCARB2, TBXA2R, PIK3CD, VCAN, ABCA1, KIF5C, DOCK6, SMARCE1, ITGA6, CCND1, GNAQ, IFNG, KIF4A, KLC2, SPARC, HTT, FMR1, GP6, ITPR1, TGFB1, F2, MERTK, HSPD1, CDT1, TSHR, GSC, GP9, CREBBP, PSAP, RPS6KA3, TP63, DTNBP1, PDE6B, INS, ABCC8, JAM3, EZH2, BIN1, CTSD, SOS2, GATA1, CAV3, EDN1, TTR, RET, LYST, GNAI3, GJA1, SOX9, EP300, SMAD4, PDE11A, VWF, F12, KIF2A, HLA-DRB1, CHRM3, TGFB3, FLNA, EEF2, LEP, DMD, VHL, COL4A1, PPP2R1A, GRIN2B, RDX, HRAS, BRCA1, VPS11, ITGB2, PTHLH, AKT1, TUBB3, SLC9A1, ITPR2, AIP, IGF1R, ATXN1, APOA1, TP53, UBE3A, LRP2, ATP1A3, SPTBN2, DCTN1, ELN, IHH, CNGB1, KIF11, ITGA2B, SNCA, ATP2B2, TTN, PRKCG, EFNB1, PTEN, F13A1, PIK3R5, TH, BRAF, ACVRL1, TUBB4A, DLX5, RB1, SERPINC1, SMAD3, AR, DLG3, HTRA1, NGF, CD40LG, IL1B, HNRNPK, INPPL1, P2RX1, PIK3R2, RORC, NTRK1, IGF2, ENTPD1, GATA6, TBP, DDX58, MYH9, KIF22, PCLO, STXBP1, STAT3, MT-CO2, PCNA, CFI, INSR, CENPE, PLG, EFEMP2, SOS1, CTNNA1, LDLR, PDGFRB, ITCH, FGFR2, PLCG2, MECP2, IL6, PIK3R1, GATA4, DCN, L1CAM, BDNF, POLR1C, IRF6, CTCF, ACTN1, APC, SMC3, EDNRB, COL1A2, EGFR, LAMP2, AP3B1, PRKACA, CTSA, MYH11, BAG3, ATP2A2, HSPG2, ITGB3, ATIC, PDE4D, F10, HPS1, MTOR, PDGFB

ADAMS-OLIVER SYNDROME 5, BRANCHIOOTIC SYNDROME 1, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, MULLERIAN APLASIA AND HYPERANDROGENISM, PALLISTER-HALL SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPER-IGE RECURRENT INFECTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CORNELIA DE LANGE SYNDROME 4, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, RUBINSTEIN-TAYBI SYNDROME, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, QUESTION MARK EARS, ISOLATED, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, PAPILLORENAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, MYHRE SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, WATSON SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, RENAL ADYSPLASIA, LOEYS-DIETZ SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 39, NEUROFIBROMATOSIS-NOONAN SYNDROME, NOONAN SYNDROME 4, MELNICK-FRASER SYNDROME, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, MULTIPLE ENDOCRINE NEOPLASIA IIB, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PARIETAL FORAMINA 2, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, LADD SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAMURATI-ENGELMANN DISEASE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, ROBINOW SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, NEUROFIBROMATOSIS, TYPE 1, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

HGF, SMARCA4, ERBB3, SMAD4, PTEN, RAD21, DVL3, TGFB1, ROBO3, PAX2, AGT, SOX2, NOTCH1, EDN1, ITGA8, SOS1, NIPBL, FOXC2, DLX5, TP53, IRF8, WNT4, RET, GLI3, AKT1, GDNF, BMP4, ZBTB16, HOXA11, NF1, SMAD3, IGF1, CREBBP, FGF10, STAT3, ALX4, INS, EYA1, SHH

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, FAILURE OF TOOTH ERUPTION, PRIMARY, MICROPHTHALMIA, SYNDROMIC 6, {PARKINSON DISEASE 8}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DEAFNESS, AUTOSOMAL DOMINANT 11, HERMANSKY-PUDLAK SYNDROME 1, JOUBERT SYNDROME 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, DYSTONIA-11, MYOCLONIC, CARASIL SYNDROME, USHER SYNDROME, TYPE 1B, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, VELOCARDIOFACIAL SYNDROME, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, MANDIBULOACRAL DYSPLASIA, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, INCONTINENTIA PIGMENTI, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, ANGELMAN SYNDROME, MELNICK-FRASER SYNDROME, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PRADER-WILLI SYNDROME, HARTNUP DISORDER, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, NEUROFIBROMATOSIS, TYPE 1, LONG QT SYNDROME 1, KEPPEN-LUBINSKY SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, CULLER-JONES SYNDROME, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, BRACHYDACTYLY, TYPE E2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, DYSTONIA 9, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NICOLAIDES-BARAITSER SYNDROME, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, DEAFNESS, AUTOSOMAL DOMINANT 17, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?DYSTONIA 23, VAN DEN ENDE-GUPTA SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CRANIOSYNOSTOSIS, TYPE 2, DEAFNESS, X-LINKED 5, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, DYSTONIA-PARKINSONISM, X-LINKED, MYOCLONIC-ATONIC EPILEPSY, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, DYSAUTONOMIA, FAMILIAL, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, BRACHIOOTIC SYNDROME 3, {OROFACIAL CLEFT 6}, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, GLUTAMINE DEFICIENCY, CONGENITAL, ?RETINITIS PIGMENTOSA 67, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, WAARDENBURG SYNDROME, TYPE 4B, ATELOSTEOGENESIS, TYPE I, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, HOLOPROSENCEPHALY-7, BLAU SYNDROME, GLANZMANN THROMBASTHENIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?SPINOCEREBELLAR ATAXIA 26, DEAFNESS, AUTOSOMAL DOMINANT 23, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, LISSENCEPHALY 5, LEOPARD SYNDROME 3, PYCNODYSOSTOSIS, CORNEAL DYSTROPHY, CONGENITAL STROMAL, PSEUDOHYPOPARATHYROIDISM IC, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, DEAFNESS, AUTOSOMAL RECESSIVE 39, DEAFNESS, AUTOSOMAL RECESSIVE 37, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CINCA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, FRAXE, OPSISMODYSPLASIA, CYSTINOSIS, OCULAR NONNEPHROPATHIC, MALOUF SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, SEGAWA SYNDROME, RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CHAR SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, CLEFT PALATE, ISOLATED, MUSCULAR DYSTROPHY, CONGENITAL, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, DIGEORGE SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, NOONAN SYNDROME 10, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EPSTEIN SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CEROID LIPOFUSCINOSIS, NEURONAL, 3, MENTAL RETARDATION, X-LINKED 21/34, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, SENIOR-LOKEN SYNDROME 9, TUMOR PREDISPOSITION SYNDROME, FACTOR XIIIA DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEOPARD SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 7, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, POPLITEAL PTERYGIUM SYNDROME 1, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, FECHTNER SYNDROME, ?LICHTENSTEIN-KNORR SYNDROME, LOEYS-DIETZ SYNDROME 5, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 68, AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1, MENTAL RETARDATION, X-LINKED 63, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, USHER SYNDROME, TYPE 1G, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, LEPRECHAUNISM, OPITZ GBBB SYNDROME, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, VAN DER WOUDE SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, PARKINSONISM-DYSTONIA, INFANTILE, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, DUANE-RADIAL RAY SYNDROME, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, LIMB-MAMMARY SYNDROME, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, AXENFELD-RIEGER SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL RECESSIVE 42, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 89, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {BLEPHAROSPASM, PRIMARY BENIGN}, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, JERVELL AND LANGE-NIELSEN SYNDROME 1, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OCULOECTODERMAL SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, USHER SYNDROME, TYPE 1F, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, TANGIER DISEASE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, ?CHARGE SYNDROME, CHARGE SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, TYLOSIS WITH ESOPHAGEAL CANCER, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HAY-WELLS SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, RENAL ADYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, CUTIS LAXA, AD, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ?RETINITIS PIGMENTOSA 66, LADD SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, SPINOCEREBELLAR ATAXIA 5, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, HUTCHINSON-GILFORD PROGERIA, CORNELIA DE LANGE SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE VIII, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, EPISODIC ATAXIA, TYPE 2, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TRIGONOCEPHALY 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, DEAFNESS, AUTOSOMAL RECESSIVE 23, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, OCULODENTODIGITAL DYSPLASIA, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TUBEROUS SCLEROSIS 2, SPINOCEREBELLAR ATAXIA 6, MYOPATHY, DISTAL, TATEYAMA TYPE, IVIC SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, SPINOCEREBELLAR ATAXIA 13, WAARDENBURG SYNDROME, TYPE 2A, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SENIOR-LOKEN SYNDROME-1, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, PSORIASIS 14, PUSTULAR, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, HERMANSKY-PUDLAK SYNDROME 9, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), EXUDATIVE VITREORETINOPATHY 4, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 6, PARIETAL FORAMINA 1, LEUKOCYTE ADHESION DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, TREACHER COLLINS SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, TIETZ ALBINISM-DEAFNESS SYNDROME, MENTAL RETARDATION, X-LINKED 90, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DEAFNESS, AUTOSOMAL RECESSIVE 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ATELOSTEOGENESIS, TYPE III, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

CA2, APOE, LAMB1, CLN3, TSC2, GNAS, RPL5, KRIT1, LRRK2, SLC6A3, NLRP12, SCARF2, DNM2, WNK1, GFI1B, TGFBR2, CREBBP, P3H1, MAFB, SLC6A19, STXBP1, SOX2, APOA1, AR, P4HB, THRA, BUB1B, MTOR, TAF6, AIFM1, CBL, SMARCE1, CCND1, SUCLA2, ITPR1, HSPD1, ROR2, TP63, DUSP6, SMC3, CAV3, TUBG1, CTNNB1, SMAD4, CTSK, NDUFAF2, CD40LG, SLC2A1, CTSD, TUBB, MYO7A, AKT1, INPPL1, UBE3A, RHBDF2, HGF, TWIST1, KIF11, IL1B, IL1RN, NOD2, LRP5, TNFRSF11A, SLC9A1, PINK1, PIK3R2, NPHP1, PCDH15, GATA4, SPG7, RARS, MT-CO2, PTPN11, TFAP2B, PAK3, BDNF, GRIN2B, CTNS, SOX11, ACVRL1, EGFR, AP3B1, ALB, EXOC8, ACE, NDUFS2, FSHB, PARK7, APOB, TH, VPS11, MFN2, NEK2, PIK3CA, ACTN1, ITGA2B, GJA1, UBB, NPR2, PROK2, TGFBI, PRF1, S1PR2, ARHGDIA, MITF, DIAPH3, IKBKAP, SF3B4, SOX9, TGFB2, GNAQ, SERPINA1, ADCY6, NOTCH1, FGFR1, MEF2C, VCAN, MSX2, KIF5C, WWOX, EDN3, SYT2, GDNF, CACNA1A, RBPJ, RB1, FGF23, STAT3, BRAF, SNAP25, DMD, SHH, IGF1, KRT5, PTH1R, EEF2, HRAS, NDN, DRD2, ASCL1, ATXN1, ERBB3, TP53, IKBKB, ADRA2B, SNCA, GLI2, DYNC1H1, DLG3, CHRNE, PTS, ATP2A2, JAGN1, ITGB4, GNAL, DTNBP1, SPTLC1, CACNA1C, PARK2, PLG, KARS, DNMT1, IL6, DCN, PCSK9, PCNA, POLR1C, PDE4D, SLC6A1, SMAD3, HSPG2, NLRP3, CAST, LMNA, F2, SALL1, CDK6, IKBKG, EFTUD2, AGT, SEPT9, KCNJ6, LEP, CDK5, CDH1, WNT5A, STK11, SALL4, NOP56, CACNA1B, ACSL4, BMPER, JAG1, GRID2, GATA3, PRKACG, BAP1, NF1, ACTA1, DNM1, GRIP1, SMARCA4, RUNX1, ELN, LZTR1, PGK1, RBP3, GATA2, SNAP29, ABCA1, SNCAIP, MET, NFKBIA, IRF8, GLIS3, NR2F1, TMEM173, TSHR, RBP4, BIN1, RPS6KA3, ACVR1, TBX1, INS, DNM1L, ABCC8, ITGB3, SHANK3, PAX2, STAT1, SYN1, RORC, UQCC2, RDX, IL36RN, ITGB2, PTHLH, TUBB3, NGF, ITPR2, ALOX12B, DCTN1, RHO, RPS19, PTEN, F13A1, AHI1, SSR4, KCNQ1, STUB1, EIF2B1, TBP, MYH9, FGF10, TGFB1, WAS, SOS1, CYP1B1, ACD, ILDR1, GRM1, EDNRB, OCLN, HTRA1, BAG3, IRF6, TINF2, FLNB, PCLO, PDGFB, CAV1, COL1A1, TBX3, MYO5A, PPARG, AGTR1, OTX2, PRKAR1A, EDN1, TRAF3IP1, BTK, NEU1, BMP4, BLOC1S6, P2RY12, PTCH1, SMARCA2, DVL3, APOA2, KRAS, PAX6, GLUL, LRP1, CACNA1D, MID1, MEGF10, IFNG, HLA-DRB1, HTT, TGFBR1, EP300, TAF1, MYO6, ZBTB16, NLRP1, PTPRC, JAM3, PITX2, PAX8, TTR, RET, KCNJ11, CACNA1G, REN, IL1RAPL1, TGFB3, CHD7, GCK, SIX1, CCND2, IGF1R, SLC25A4, MPDZ, FERMT3, MUSK, CHRM3, DDOST, RUNX2, FLNA, SEMA3A, ATM, CASK, PRKACA, INSR, SERPINH1, DRD5, PLA2G6, SPTBN2, HACE1, KCNC3, MYH11, ATIC, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, CORNEAL DYSTROPHY, LATTICE TYPE I, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, REVESZ SYNDROME, IMMUNODEFICIENCY 15, OSTEOGENESIS IMPERFECTA, TYPE I, USHER SYNDROME, TYPE 1B, BASAL CELL NEVUS SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, GLUTAMINE DEFICIENCY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, BANNAYAN-RILEY-RUVALCABA SYNDROME, SHORT SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, MICROPHTHALMIA WITH COLOBOMA 5, WAARDENBURG SYNDROME, TYPE 4B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CUTIS LAXA, AD, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, CINCA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 11, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, HOLOPROSENCEPHALY-7, BLAU SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA-11, MYOCLONIC, FECHTNER SYNDROME, ?LICHTENSTEIN-KNORR SYNDROME, HUTCHINSON-GILFORD PROGERIA, DYSAUTONOMIA, FAMILIAL, HERMANSKY-PUDLAK SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, ?DYSTONIA 23, EPSTEIN SYNDROME, AURICULOCONDYLAR SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, FRONTOMETAPHYSEAL DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, CORNEAL DYSTROPHY, CONGENITAL STROMAL, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, LOEYS-DIETZ SYNDROME 3, MANDIBULOACRAL DYSPLASIA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, RENAL TUBULAR DYSGENESIS, CLEFT PALATE, ISOLATED, LEPRECHAUNISM, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HUNTINGTON DISEASE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, APLASIA OF LACRIMAL AND SALIVARY GLANDS, OSTEOGENESIS IMPERFECTA, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE III, DEAFNESS, AUTOSOMAL RECESSIVE 68, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, NEPHROTIC SYNDROME, TYPE 8, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, COWCHOCK SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, NEUROFIBROMATOSIS-NOONAN SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, OSTEOLYSIS, FAMILIAL EXPANSILE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MICROPHTHALMIA, SYNDROMIC 6, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, NEUROFIBROMATOSIS, FAMILIAL SPINAL, OTOPALATODIGITAL SYNDROME, TYPE I, TIETZ ALBINISM-DEAFNESS SYNDROME, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, DEAFNESS, AUTOSOMAL RECESSIVE 42, OPSISMODYSPLASIA, CYSTINOSIS, OCULAR NONNEPHROPATHIC, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?RETINITIS PIGMENTOSA 66, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, IVIC SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 89, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LONG QT SYNDROME 1, {BLEPHAROSPASM, PRIMARY BENIGN}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, WAARDENBURG SYNDROME, TYPE 2A, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, EMBERGER SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GRISCELLI SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, OCULOECTODERMAL SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 33, BRACHYDACTYLY, TYPE E2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, LEUKODYSTROPHY, HYPOMYELINATING, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, JERVELL AND LANGE-NIELSEN SYNDROME 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, MELNICK-NEEDLES SYNDROME, CLOVE SYNDROME, SOMATIC, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, CONGENITAL, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MACROCEPHALY/AUTISM SYNDROME, HERMANSKY-PUDLAK SYNDROME 9, CAMURATI-ENGELMANN DISEASE, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 18, DUANE-RADIAL RAY SYNDROME, DYSTONIA 9, TANGIER DISEASE, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, DEAFNESS, AUTOSOMAL DOMINANT 17, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MALOUF SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, OPITZ GBBB SYNDROME, TYPE I, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, WAGNER SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PARIETAL FORAMINA 1, INCONTINENTIA PIGMENTI, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DEAFNESS, X-LINKED 5, MUCKLE-WELLS SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, LEUKODYSTROPHY, HYPOMYELINATING, 9, NEUROFIBROMATOSIS, TYPE 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, CRANIOSYNOSTOSIS, TYPE 2, CORNEAL DYSTROPHY, AVELLINO TYPE, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ULNAR-MAMMARY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOCLONIC-ATONIC EPILEPSY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, SENIOR-LOKEN SYNDROME 9, MENTAL RETARDATION, X-LINKED 30/47, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, DEAFNESS, AUTOSOMAL RECESSIVE 2, LEOPARD SYNDROME 1, LOEYS-DIETZ SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, LOEYS-DIETZ SYNDROME 4, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

CA2, APOE, NEU1, CAV1, WNT5A, MPDZ, COL1A1, SALL1, MID1, MFN2, PGK1, IKBKG, CACNA1B, ACTN1, SMARCA4, APOA1, F2, TBX3, AGT, MYO5A, GCK, PPARG, CDK5, OTX2, PRKAR1A, SNCA, CDH1, GJA1, NLRP12, UBB, SALL4, NPR2, PROK2, DNM2, S1PR2, PIK3CA, TGFBI, GNAL, BMP4, BLOC1S6, SLC6A1, MITF, DRD2, CREBBP, ARHGDIA, GATA3, MAFB, NF1, ACTA1, AIFM1, DNM1, DVL3, TGFB2, ACVR1, KRAS, ERBB3, CBL, ELN, AR, GNAS, GLUL, DRD5, GATA2, NOD2, MEF2C, LEP, LMNA, VCAN, MSX2, KIF5C, MEGF10, IKBKAP, CCND1, MET, GNAQ, IFNG, STAT1, EDN3, HTT, DNM1L, SUCLA2, TGFBR1, EP300, GDNF, HSPD1, TMEM173, TSHR, RBP4, TNFRSF11A, STAT3, INS, JAM3, DMD, PTCH1, EDN1, TTR, GRIN2B, ITGB3, CACNA1G, TRAF3IP1, IGF1, AGTR1, KRT5, SHANK3, HLA-DRB1, CHRM3, TGFB3, FLNA, SYN1, RORC, SLC6A3, CHRNE, TUBB, RDX, HRAS, FERMT3, ITGB2, PTHLH, AKT1, TUBB3, NGF, INPPL1, MYO7A, IGF1R, ATXN1, RUNX1, TP53, IKBKB, DCTN1, PINK1, TWIST1, ITGA2B, RHO, IL1B, PTEN, F13A1, MUSK, ACVRL1, RUNX2, NLRP1, SLC2A1, KCNQ1, SLC9A1, STUB1, ALB, JAGN1, PIK3R2, TGFB1, STXBP1, PTPN11, ATM, GATA4, DTNBP1, MYH9, AP3B1, FGF10, RARS, WAS, PRKACA, INSR, PLG, PDGFB, SOS1, KARS, DNMT1, TINF2, IL6, PAK3, RBP3, DCN, ACD, PCNA, PLA2G6, ILDR1, CTNS, SOX11, SNAP25, EDNRB, EGFR, SPG7, OCLN, SMAD3, ALOX12B, ATP2A2, HSPG2, NLRP3, PIK3R1, PDE4D, CASK, SHH

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, CORNEAL DYSTROPHY, LATTICE TYPE I, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PARKINSON DISEASE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BLAU SYNDROME, GLANZMANN THROMBASTHENIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?SPINOCEREBELLAR ATAXIA 26, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, FECHTNER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 23, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, CORNELIA DE LANGE SYNDROME 3, LEOPARD SYNDROME 3, MYOPATHY, DISTAL, TATEYAMA TYPE, AURICULOCONDYLAR SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IA, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, SPINOCEREBELLAR ATAXIA 15, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 8, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CINCA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LOEYS-DIETZ SYNDROME 3, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, MELNICK-FRASER SYNDROME, NEPHROTIC SYNDROME, TYPE 8, MICROPHTHALMIA, SYNDROMIC 6, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, OPSISMODYSPLASIA, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, TYLOSIS WITH ESOPHAGEAL CANCER, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, SEGAWA SYNDROME, RECESSIVE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LONG QT SYNDROME 1, {BLEPHAROSPASM, PRIMARY BENIGN}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, SEBASTIAN SYNDROME, PAPILLORENAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, JERVELL AND LANGE-NIELSEN SYNDROME 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TIMOTHY SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ATAXIA-TELANGIECTASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SPINOCEREBELLAR ATAXIA 1, PSORIASIS 14, PUSTULAR, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, X-LINKED 21/34, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYHRE SYNDROME, MACROCEPHALY/AUTISM SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, DYSTONIA 9, TANGIER DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MENTAL RETARDATION, X-LINKED 63, DEAFNESS, AUTOSOMAL DOMINANT 17, DARIER DISEASE, EPSTEIN SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, LEUKOCYTE ADHESION DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, TREACHER COLLINS SYNDROME 3, CORNEAL DYSTROPHY, AVELLINO TYPE, WATSON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MENTAL RETARDATION, X-LINKED 30/47, TUMOR PREDISPOSITION SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, BRACHIOOTIC SYNDROME 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

MPDZ, HGF, CAV1, APOB, APOE, TH, GNAS, EFTUD2, ITGB3, AGT, CDK5, EDN1, NLRP12, BMP4, PROK2, TGFBI, WNK1, ACSL4, BMPER, ARHGDIA, SMAD4, IKBKAP, BAP1, SF3B4, RPS7, HTRA1, IL1RAPL1, APOA2, DRD2, ERBB3, NOTCH1, DRD5, FSHB, MTOR, NOD2, LEP, ABCA1, CCND1, TGFBR1, ITPR1, HSPD1, ZBTB16, RB1, FGF23, PCNA, STAT3, BRAF, INS, ABCC8, SMC3, GCK, CAV3, GRIN2B, KCNJ11, REN, EP300, IGF1, DVL3, PAX2, NDUFAF2, CD40LG, EEF2, CTSD, CHRNE, IL36RN, ITGB2, AKT1, TUBB3, INPPL1, SIX1, ATXN1, RUNX1, TP53, ADRA2B, KIF11, CDH1, SNCA, IL1B, TSHR, NF1, IL1RN, APOA1, PTEN, SLC2A1, KCNQ1, MYH11, NGF, RHBDF2, TUBG1, ATP2A2, TGFB1, STXBP1, PTPN11, ATM, MYH9, ITGB4, ACVR1, P2RY12, CACNA1C, PARK2, PITX2, DNMT1, IL6, PAK3, PCSK9, BDNF, POLR1C, GRM1, SNAP25, HRAS, EGFR, SPG7, SMAD3, ALB, HSPG2, NLRP3, ATIC, SHH

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, CORNEAL DYSTROPHY, LATTICE TYPE I, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, ?RETINITIS PIGMENTOSA 67, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, WAARDENBURG SYNDROME, TYPE 4B, HUTCHINSON-GILFORD PROGERIA, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, PAPILLORENAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EXUDATIVE VITREORETINOPATHY 4, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, RUBINSTEIN-TAYBI SYNDROME, FECHTNER SYNDROME, STICKLER SYNDROME, TYPE I, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, PARIETAL FORAMINA 2, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, WAARDENBURG SYNDROME, TYPE 2D, POLYMORPHOUS CORNEAL DYSTROPHY, MULTIPLE SYNOSTOSES SYNDROME 1, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, AURICULOCONDYLAR SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, TOOTH AGENESIS, SELECTIVE, 7, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, APLASIA OF LACRIMAL AND SALIVARY GLANDS, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CARPENTER SYNDROME 2, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LOEYS-DIETZ SYNDROME 3, HYPOBETALIPOPROTEINEMIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MOWAT-WILSON SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CRANIOFRONTONASAL DYSPLASIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, PARKINSON DISEASE 1, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, FRONTOMETAPHYSEAL DYSPLASIA, VELOCARDIOFACIAL SYNDROME, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ADAMS-OLIVER SYNDROME 3, NOONAN SYNDROME 9, BLEEDING DISORDER, PLATELET-TYPE, 15, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, MICROPHTHALMIA, SYNDROMIC 6, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SEBASTIAN SYNDROME, TARSAL-CARPAL COALITION SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, KEUTEL SYNDROME, MALOUF SYNDROME, WAARDENBURG SYNDROME, TYPE 3, HERMANSKY-PUDLAK SYNDROME 2, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SYMPHALANGISM, PROXIMAL, 1A, WAARDENBURG SYNDROME, TYPE 4C, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, WAARDENBURG SYNDROME, TYPE 2A, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CORNELIA DE LANGE SYNDROME 3, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, NOONAN SYNDROME 4, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, MUSCULAR DYSTROPHY, CONGENITAL, DIGEORGE SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, KINDLER SYNDROME, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MACROCEPHALY/AUTISM SYNDROME, EPISODIC ATAXIA, TYPE 6, TANGIER DISEASE, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, TUBEROUS SCLEROSIS 2, EPSTEIN SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, ?CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY, FRONTONASAL DYSPLASIA 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SPONDYLOCOSTAL DYSOSTOSIS 5, LOEYS-DIETZ SYNDROME 1, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, CRANIOSYNOSTOSIS, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, SMED STRUDWICK TYPE, ?FIBROMATOSIS, GINGIVAL, 1, CORNEAL DYSTROPHY, AVELLINO TYPE, CARNEY COMPLEX, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, RENAL ADYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 39, DEAFNESS, AUTOSOMAL RECESSIVE 37, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CRANIOSYNOSTOSIS 6, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, TIETZ ALBINISM-DEAFNESS SYNDROME, LADD SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, PARIETAL FORAMINA 1, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

APOE, MITF, F2, PAFAH1B1, MPDZ, NEK2, TWIST1, ACTN1, SLC1A3, AGT, ZIC1, SOX2, OTX2, PRKAR1A, UBA1, EDN1, APOB, SOX10, OVOL2, AKT2, NOG, HGF, NR2F1, CLASP1, GATA4, NPR2, PIK3CA, TGFBI, BMP4, SNAI2, GFI1B, DLL4, CREBBP, COL2A1, PHOX2A, PTEN, ACTA1, ACVR1, GNAQ, APOA1, PTPRC, NOTCH1, IL6, DAG1, FGFR1, MEF2C, LMNA, PIK3CD, MEGF8, MSX2, IKBKAP, CCND1, IFNG, EDN3, TGFBR1, EP300, TAF1, RBPJ, MYO6, WDPCP, FERMT1, TBX1, ACD, LRP6, SOS2, TUBG1, ITGB3, CTNNB1, IGF1, CDK5, GDNF, PAX2, LRP5, MYOC, PITX2, GRIN2B, AKT1, SMARCA4, PRKDC, WNT5A, FOXC2, LDLR, SOX18, EZH2, GLI3, CDH1, SNCA, ITCH, EFNB1, MYH2, ZEB2, ITGA6, RUNX2, FLNA, SEMA3A, HNRNPK, PAX3, TGFB1, CYP1B1, TBP, MYH9, FGF10, STAT3, KITLG, ENG, PLG, SOS1, CTNNA1, TP53, DNMT1, ALX4, COL4A3, PAK3, GATA6, INS, BDNF, PHOX2B, RET, TBX6, SMC3, EDNRB, LRP2, AP3B1, MGP, SMAD3, HSPG2, SHH

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, RETINITIS PIGMENTOSA-40, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, JOUBERT SYNDROME 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CARASIL SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ?RETINAL ARTERIES, TORTUOSITY OF, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, RENAL TUBULAR DYSGENESIS, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, GLANZMANN THROMBASTHENIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, GILLESPIE SYNDROME, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, HAY-WELLS SYNDROME, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, SEBASTIAN SYNDROME, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, BRACHYDACTYLY, TYPE E2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, RETINITIS PIGMENTOSA 13, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, DEAFNESS, AUTOSOMAL DOMINANT 17, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, ADAMS-OLIVER SYNDROME 2, RETINITIS PIGMENTOSA 45, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, FRAGILE X SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, CHERUBISM, MYOPATHY, DISTAL, TATEYAMA TYPE, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, CROUZON SYNDROME, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CHEDIAK-HIGASHI SYNDROME, {OROFACIAL CLEFT 6}, DANON DISEASE, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA 14, ?SPINOCEREBELLAR ATAXIA 26, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, LEOPARD SYNDROME 3, STORMORKEN SYNDROME, CORNEAL DYSTROPHY, CONGENITAL STROMAL, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, NOONAN SYNDROME 9, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, FRAXE, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MYOPATHY, TUBULAR AGGREGATE, 2, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, SEGAWA SYNDROME, RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, KNOBLOCH SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, FRAGILE X TREMOR/ATAXIA SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPSTEIN SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, AURICULOCONDYLAR SYNDROME 1, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, COMPLEMENT FACTOR I DEFICIENCY, ADULT SYNDROME, HYPOBETALIPOPROTEINEMIA, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, LEOPARD SYNDROME 1, IMMUNODEFICIENCY 10, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, HERMANSKY-PUDLAK SYNDROME 7, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, MACULAR DYSTROPHY, PATTERNED, 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, ANGIOEDEMA, HEREDITARY, TYPE III, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, WERNER SYNDROME, FECHTNER SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, DEJERINE-SOTTAS DISEASE, LOEYS-DIETZ SYNDROME 5, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, RETINITIS PIGMENTOSA 38, CAPOS SYNDROME, VAN DER WOUDE SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, PARKINSON DISEASE 1, ?MENTAL RETARDATION, X-LINKED 100, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LIMB-MAMMARY SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, BETHLEM MYOPATHY 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, COMBINED SAP DEFICIENCY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, TANGIER DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, PHYTANIC ACID STORAGE DISEASE, FACTOR VII DEFICIENCY, SMITH-KINGSMORE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, CORNEAL DYSTROPHY, AVELLINO TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, RENAL ADYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, CUTIS LAXA, AD, LADD SYNDROME, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, MASA SYNDROME, CRASH SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, IMMUNODEFICIENCY 9, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 5, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, COLE-CARPENTER SYNDROME 1, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, STROMME SYNDROME, TRIGONOCEPHALY 1, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, OCULODENTODIGITAL DYSPLASIA, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, BLEEDING DISORDER, PLATELET-TYPE, 15, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, JACKSON-WEISS SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, DYSTONIA-12, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, ?BARDET-BIEDL SYNDROME 11, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SENIOR-LOKEN SYNDROME-1, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SED CONGENITA, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, HERMANSKY-PUDLAK SYNDROME 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 6, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, TREACHER COLLINS SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, BRCA2, ADRA2B, CAV1, SHH, LAMA1, RASGRP2, CDK5, PRPF8, MPDZ, ATP2B3, P2RY12, ACTB, ITGB4, STIM1, GNAS, KRAS, IKBKG, GLI3, NPHP1, ALDOA, STAT1, MAG, AGT, TGFBI, MYO5A, PPARG, ATP1A2, AGTR1, PROS1, MFN2, SOX2, PRKAR1A, PHYH, ALB, CDH1, CLDN1, APOB, TNFRSF11A, LRPAP1, MYH7, COL18A1, STK11, COL6A1, CDKN2A, PDE10A, P4HB, EGR2, HGF, ITGA3, PRF1, CLASP1, TGFBR1, EPS8, SPTAN1, COL1A1, DNM2, DES, PIK3CA, TRIM32, PTPN11, BMP4, BLOC1S6, WAS, GFI1B, ARHGDIA, TGFBR2, IGF1, ADCY6, GATA3, COL2A1, CTNNB1, MUSK, KDM1A, ACTA1, DNM1, EDNRA, GP1BA, TGFB2, ACVR1, FBLN5, ERBB3, CBL, PAX6, PTPRC, SERPINA1, CAPN3, ISG15, ORAI1, WRN, NOTCH1, NRAS, GP1BB, LRP1, PROC, CENPF, GATA2, FGFR1, PRKACG, SH3BP2, MMP1, SCARB2, TBXA2R, PIK3CD, VCAN, ABCA1, KIF5C, DOCK6, SMARCE1, ITGA6, CCND1, GNAQ, IFNG, KIF4A, KLC2, SPARC, HTT, FMR1, GP6, ITPR1, TGFB1, F2, MERTK, HSPD1, CDT1, TSHR, GSC, GP9, CREBBP, PSAP, F7, RPS6KA3, TP63, DTNBP1, PDE6B, INS, ABCC8, JAM3, EZH2, BIN1, CTSD, SOS2, GATA1, CAV3, EDN1, TTR, RET, LYST, GNAI3, GJA1, SOX9, EP300, SMAD4, PDE11A, VWF, F12, KIF2A, HLA-DRB1, CHRM3, TGFB3, FLNA, EEF2, LEP, DMD, VHL, COL4A1, PPP2R1A, GRIN2B, RDX, HRAS, VPS11, ITGB2, PTHLH, AKT1, TUBB3, SLC9A1, ITPR2, AIP, IGF1R, ATXN1, APOA1, TP53, UBE3A, LRP2, ATP1A3, SPTBN2, DCTN1, ELN, IHH, CNGB1, KIF11, ITGA2B, SNCA, ATP2B2, TTN, PRKCG, EFNB1, PTEN, F13A1, PIK3R5, TH, BRAF, ACVRL1, TUBB4A, DLX5, RB1, SERPINC1, SMAD3, AR, DLG3, HTRA1, NGF, CD40LG, IL1B, HNRNPK, INPPL1, P2RX1, PIK3R2, NTRK1, IGF2, ENTPD1, GATA6, TBP, DDX58, MYH9, KIF22, PCLO, STXBP1, STAT3, MT-CO2, PCNA, CFI, INSR, CENPE, PLG, EFEMP2, SOS1, CTNNA1, LDLR, PDGFRB, ITCH, FGFR2, PLCG2, MECP2, IL6, PIK3R1, GATA4, DCN, L1CAM, BDNF, POLR1C, IRF6, CTCF, ACTN1, APC, SMC3, EDNRB, COL1A2, EGFR, LAMP2, AP3B1, PRKACA, CTSA, MYH11, BAG3, ATP2A2, HSPG2, ITGB3, ATIC, PDE4D, F10, HPS1, MTOR, PDGFB

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, PELGER-HUET ANOMALY, CAMURATI-ENGELMANN DISEASE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPER-IGE RECURRENT INFECTION SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, BARDET-BIEDL SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LAMB-SHAFFER SYNDROME, SHORT SYNDROME, GREENBERG SKELETAL DYSPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, VAN DER WOUDE SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, POPLITEAL PTERYGIUM SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), SPINOCEREBELLAR ATAXIA 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PARKINSON DISEASE 1, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, DEAFNESS, AUTOSOMAL RECESSIVE 37, ANGELMAN SYNDROME, DYSTONIA-11, MYOCLONIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, NICOLAIDES-BARAITSER SYNDROME, PERRAULT SYNDROME 5, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LEBER CONGENITAL AMAUROSIS 15, ?REYNOLDS SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, {OROFACIAL CLEFT 6}, ENCEPHALOPATHY, NEONATAL SEVERE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, CHOROID PLEXUS PAPILLOMA, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, PROTEUS SYNDROME, SOMATIC

ACTA1, SMARCA2, PAFAH1B1, IGF1, TULP1, DRD2, LBR, TGFB1, CHAT, MECP2, SOX5, PPP2R1A, BBS4, AKT1, NGF, PAK3, ATXN1, TP53, BDNF, GRIN2B, SYNGAP1, SNCA, MYO6, RELN, IRF6, STAT3, C10orf2, PIK3R1

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, THANATOPHORIC DYSPLASIA, TYPE II, ?LICHTENSTEIN-KNORR SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, BEARE-STEVENSON CUTIS GYRATA SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ACHONDROPLASIA, ?FIBROMATOSIS, GINGIVAL, 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 14, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, FECHTNER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, MYOPATHY, DISTAL, TATEYAMA TYPE, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, DEAFNESS, AUTOSOMAL RECESSIVE 68, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, TRICHOMEGALY, RUBINSTEIN-TAYBI SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 11, DIGEORGE SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LOEYS-DIETZ SYNDROME 3, CAPOS SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PARKINSON DISEASE 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CATSHL SYNDROME, VELOCARDIOFACIAL SYNDROME, NOONAN SYNDROME 9, RENAL TUBULAR DYSGENESIS, SHORT SYNDROME, ANGELMAN SYNDROME, IMMUNODEFICIENCY 19, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SEBASTIAN SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, DYSTONIA-12, TARSAL-CARPAL COALITION SYNDROME, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, LEOPARD SYNDROME 1, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LADD SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SYMPHALANGISM, PROXIMAL, 1A, SCHOPF-SCHULZ-PASSARGE SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PAPILLORENAL SYNDROME, EMBERGER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OSTEOGLOPHONIC DYSPLASIA, DUCHENNE MUSCULAR DYSTROPHY, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, DUANE-RADIAL RAY SYNDROME, TANGIER DISEASE, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, ODONTOONYCHODERMAL DYSPLASIA, EPSTEIN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, PSEUDOHYPOPARATHYROIDISM IA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, TREACHER COLLINS SYNDROME 3, CORNEAL DYSTROPHY, AVELLINO TYPE, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, NOONAN SYNDROME 7, MICROPHTHALMIA, SYNDROMIC 6, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CROUZON SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, WAARDENBURG SYNDROME, TYPE 2D, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LOEYS-DIETZ SYNDROME 4, IVIC SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, DLL4, FGFR1, CD3D, MEF2C, GNAS, KRIT1, AGT, GFAP, INSR, OTX2, PRKAR1A, EDN1, UBB, FGF17, NOG, LIPE, SALL4, CLASP1, PIK3CA, TGFBI, BMP4, S1PR2, SNAI2, PDGFRB, CREBBP, PRKACG, TGFBR2, ACTA1, ACE, TGFB2, KRAS, ERBB3, MAP2K2, ADCY6, IGF2, NOTCH1, LRP1, GATA2, ADCY1, CD3E, LEP, PIK3CD, CBL, SMARCE1, WWOX, CCND1, TGFBR1, ITPR1, ROR2, GSC, FGF23, RPS6KA3, FGF5, DUSP6, TBX1, INS, PDGFB, SOS2, CAV3, GRIN2B, SHOC2, EP300, IGF1, PAX2, CD40LG, DMD, SOX9, PPP2R1A, TUBB, HRAS, PLK4, AKT1, CCND2, KL, ITPR2, VDR, DDX58, APOA1, TP53, UBE3A, EGFR, ATP1A3, CDH1, SNCA, PRKCG, PTEN, FGFR3, RUNX2, NRAS, SLC9A1, PAX3, PIK3R2, TGFB1, PTPN11, GATA4, FIBP, MYH9, FGF10, STAT3, PRKACA, CD19, WNT10A, ADCY5, SOS1, CEP57, FGF3, DNMT1, FGFR2, BRAF, IL6, PAK3, PDGFRA, BDNF, POLR1C, KITLG, FGF20, LRP2, ATXN3, SMAD3, HSPG2, PIK3R1, MTOR, SHH

SUPRANUCLEAR PALSY, PROGRESSIVE, RETINITIS PIGMENTOSA-40, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 4A, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, {PARKINSON DISEASE 8}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 38, DEAFNESS, AUTOSOMAL DOMINANT 11, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CAMURATI-ENGELMANN DISEASE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, RENAL TUBULAR DYSGENESIS, WARSAW BREAKAGE SYNDROME, ATAXIA-TELANGIECTASIA-LIKE DISORDER, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED 102, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, LEBER OPTIC ATROPHY, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, CARPENTER SYNDROME, NEUROFIBROMATOSIS, TYPE 1, HEIMLER SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, LISSENCEPHALY 6, WITH MICROCEPHALY, SEBASTIAN SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ?JOUBERT SYNDROME 22, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, ?MECKEL SYNDROME 12, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, NOONAN SYNDROME 4, LEUKODYSTROPHY, HYPOMYELINATING, 6, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, ?AL-GAZALI-BAKALINOVA SYNDROME, RETINITIS PIGMENTOSA 45, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CRANIOSYNOSTOSIS, TYPE 2, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, KARTAGENER SYNDROME, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), XERODERMA PIGMENTOSUM, GROUP B, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, COLE DISEASE, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, GLUTAMINE DEFICIENCY, CONGENITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, OPTIC ATROPHY 1, ?CATARACT 43, BONE MARROW FAILURE SYNDROME 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CONE-ROD DYSTROPHY 18, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?SPINOCEREBELLAR ATAXIA 26, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, AMINOACYLASE 1 DEFICIENCY, MEIER-GORLIN SYNDROME 1, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, DEAFNESS, AUTOSOMAL RECESSIVE 37, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, {AUTISM, SUSCEPTIBILITY TO, 18}, ?PERRAULT SYNDROME 2, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ARTHROGRYPOSIS, DISTAL, TYPE 8, MULIBREY NANISM, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, COFFIN-SIRIS SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, OTOPALATODIGITAL SYNDROME, TYPE I, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BEHR SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, HEIMLER SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, FANCONI ANEMIA, COMPLEMENTATION GROUP C, NOONAN SYNDROME 8, MENTAL RETARDATION, X-LINKED 30/47, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, OPTIC ATROPHY PLUS SYNDROME, RETINITIS PIGMENTOSA 37, DEAFNESS, AUTOSOMAL DOMINANT 56, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EPSTEIN SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, ?HYDROLETHALUS SYNDROME 2, SPINOCEREBELLAR ATAXIA 17, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, MENTAL RETARDATION, X-LINKED 19, ?PRUNE BELLY SYNDROME, NIEMANN-PICK DISEASE TYPE C1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LEUKODYSTROPHY, HYPOMYELINATING, 9, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, AICARDI-GOUTIERES SYNDROME 6, DYSTONIA-1, TORSION, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, TUMOR PREDISPOSITION SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, XERODERMA PIGMENTOSUM, GROUP D, CEROID LIPOFUSCINOSIS, NEURONAL, 10, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, REVESZ SYNDROME, USHER SYNDROME, TYPE 1B, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, COCKAYNE SYNDROME, TYPE B, ?NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, WERNER SYNDROME, FECHTNER SYNDROME, ?BARDET-BIEDL SYNDROME 19, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3, GALACTOSEMIA, DIAMOND-BLACKFAN ANEMIA 6, ?MENTAL RETARDATION, X-LINKED 100, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FILS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, ?IMMUNODEFICIENCY 13, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 4B, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CHOROID PLEXUS PAPILLOMA, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, BURN-MCKEOWN SYNDROME, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, OSTEOGENESIS IMPERFECTA, TYPE IX, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, LOEYS-DIETZ SYNDROME 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, SMITH-MCCORT DYSPLASIA 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, ?SECKEL SYNDROME 8, SMITH-KINGSMORE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, WATSON SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 12, PALLISTER-HALL SYNDROME, BONE MARROW FAILURE SYNDROME 2, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), FRASER SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, HYPOPHOSPHATASIA, CHILDHOOD, SHORT SYNDROME, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, BARAITSER-WINTER SYNDROME 2, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AURICULOCONDYLAR SYNDROME 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOHYPOPARATHYROIDISM IA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, CHOROIDEREMIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, XERODERMA PIGMENTOSUM, GROUP C, MYOPATHY, DISTAL, TATEYAMA TYPE, CORPUS CALLOSUM AGENESIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, CORNELIA DE LANGE SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, DEAFNESS, AUTOSOMAL RECESSIVE 30, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, MACROCEPHALY/AUTISM SYNDROME, NEUROFIBROMATOSIS, TYPE 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, BLEEDING DISORDER, PLATELET-TYPE, 17, LISSENCEPHALY 3, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, CODAS SYNDROME, PARIETAL FORAMINA 1, LEUKOCYTE ADHESION DEFICIENCY, PERRY SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, WISKOTT-ALDRICH SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DEAFNESS, AUTOSOMAL RECESSIVE 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

CA2, MPDZ, BRCA2, TRIM32, CAV1, SQSTM1, PAFAH1B1, CDK5, PRPF8, PDE4D, SPTLC1, NOP56, CNBP, RAD21, ORC1, ACTB, ITGB4, KIF1C, PEX14, PGK1, IKBKG, CDT1, PEX6, SMARCA4, RPL5, MYO7A, ITGB3, KRIT1, ENPP1, CCNO, TUBB, PPARG, CTNNB1, LRRK2, TRAPPC2, PRKAR1A, ABCD1, UBA1, GALT, HARS2, RECQL4, MYH14, EIF4A3, SOS1, EEF1A2, IGHMBP2, MYO3A, ARFGEF2, LIPE, AR, PDE6D, SEPT9, DNAH8, DNM2, DES, PIK3CA, PTPN11, WNK1, GNAL, ACY1, GFI1B, ERCC2, ARHGDIA, OCRL, ALPL, MYH3, NRAS, ABCB6, LONP1, MRE11A, MYO6, RBPJ, KIF1A, PTEN, SMARCB1, ACTA1, DNM1, EIF2B2, NF2, MFN2, TNNT3, ACVR1, KRAS, APOA1, TUBB2B, TUBA1A, BRAF, KIF4A, NME1, TNC, WRN, PIGT, GCH1, ERCC3, IL6, MAPT, FANCC, SRP72, RYR1, CHM, TAF6, BCAP31, BAP1, GNAT1, GFM1, ABCA1, ABCA4, EXOSC8, KIF5C, MEGF10, STXBP1, CCND1, MET, IFNG, TPM2, TAP1, VPS33B, NR2E3, GNAS, IRF8, UNC45B, DNM1L, MYH8, TGFBR1, ITPR1, GMPPB, TAF1, HSPD1, DYNC2H1, SAMHD1, GTPBP3, SSR4, TUBGCP4, EFTUD2, ABCD4, SYN1, FANCA, TNNT2, PPIB, RAB18, PCNA, RPS6KA3, AGT, STAT3, VCP, PDE6B, INS, SNAP25, MYO5A, SOS2, TUBA8, CAV3, EDN1, BANF1, TECR, DDX3X, OAT, GNAI3, REN, SMARCA2, MT-ATP6, SMC3, AP4M1, SMAD4, SPAST, PDE11A, CLASP1, CBS, PEX19, KIF2A, HLA-DRB1, HDAC6, GRIP1, EEF2, CTDP1, ERCC5, CTSD, RAB33B, VHL, KIF1B, PEX5, SMARCAL1, EIF2B1, FLNA, MTOR, ITGB2, AKT1, TUBB3, GNAQ, TXNL4A, VDR, TSC2, ASCL1, KATNB1, DVL1, PARK2, KIF21A, TP53, UBE3A, EGFR, ATP5A1, DNAH5, DCTN1, ABCA12, DNA2, UNC119, CNGB1, KIF11, CDH1, RHO, DNAH1, TINF2, ATP2B2, NF1, NPC1, XPC, ATP13A2, PPP2R2B, CHRM3, DDOST, GALE, TUBB4A, SKIV2L, DYNC1H1, ERCC6, ADAR, POLR3B, POLA1, PRKDC, PEX1, ATP6V1B1, SMAD3, ISG15, DLG3, ABCA5, NGF, HINT1, MYH7, TUBG1, PAX3, ACTG1, ABCC6, ERCC6L2, JAGN1, PIK3R2, KIF22, NONO, ENTPD1, MSX2, ATM, DARS, TBP, CHD8, KIF14, AP3B1, IFT27, TGFB1, CASK, STAT1, WAS, TBCE, INSR, CENPE, ATRX, POLE, KIF7, BLM, PDE10A, TAP2, ATXN2, PAK3, ABCC9, GATA4, GPX4, RTEL1, OPA1, TOR1A, ITPA, GRIN2B, RIT1, ACTN1, PNP, ABCC8, HRAS, LAMA2, HACE1, CDK5RAP2, MYH9, DNAJC3, GLUL, NHP2, CDC6, ATR, DDX58, EXOC8, DDX11, RAB28, TRIM37, TUFM, RAB23, RARS, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CORNEAL DYSTROPHY, LATTICE TYPE I, BASAL CELL NEVUS SYNDROME, LIMB-MAMMARY SYNDROME, MACULAR DEGENERATION, EARLY-ONSET, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, TREACHER COLLINS SYNDROME 1, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, ACHONDROPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, ?STICKLER SYNDROME, TYPE V, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, ECTOPIA LENTIS, FAMILIAL, CORNEAL DYSTROPHY, AVELLINO TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, COENZYME Q10 DEFICIENCY, PRIMARY, 6, MELNICK-NEEDLES SYNDROME, ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HOLOPROSENCEPHALY-7, RENAL TUBULAR DYSGENESIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARASIL SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, GILLESPIE SYNDROME, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, PARIETAL FORAMINA 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, PORENCEPHALY 1, AURICULOCONDYLAR SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE II, DEAFNESS, AUTOSOMAL DOMINANT 56, SPINOCEREBELLAR ATAXIA 28, MULTIPLE SYNOSTOSES SYNDROME 1, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ?RETINAL ARTERIES, TORTUOSITY OF, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DUANE-RADIAL RAY SYNDROME, TRIGONOCEPHALY 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, PITT-HOPKINS SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RETT SYNDROME, CONGENITAL VARIANT, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, PCWH SYNDROME, SADDAN, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, RAINE SYNDROME, MEND SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, ALPORT SYNDROME, AUTOSOMAL DOMINANT, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), LANGER MESOMELIC DYSPLASIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, FOVEAL HYPOPLASIA 1, LOEYS-DIETZ SYNDROME 3, SPINOCEREBELLAR ATAXIA 36, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, FRANK-TER HAAR SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, ADAMS-OLIVER SYNDROME 3, MULTIPLE SYNOSTOSES SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, COFFIN-SIRIS SYNDROME 3, EHLERS-DANLOS SYNDROME, TYPE IV, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPOPHOSPHATEMIC RICKETS, AR, HOLOPROSENCEPHALY-2, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PRADER-WILLI SYNDROME, TARSAL-CARPAL COALITION SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, STICKLER SYNDROME, TYPE I, WAARDENBURG SYNDROME, TYPE 3, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BARAITSER-WINTER SYNDROME 1, HAY-WELLS SYNDROME, IVIC SYNDROME, MENTAL RETARDATION, X-LINKED 19, HYPOPHOSPHATASIA, CHILDHOOD, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SYMPHALANGISM, PROXIMAL, 1A, WAARDENBURG SYNDROME, TYPE 4C, SCHOPF-SCHULZ-PASSARGE SYNDROME, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, EMBERGER SYNDROME, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, CULLER-JONES SYNDROME, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ?OTOFACIOCERVICAL SYNDROME 2, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, KNOBLOCH SYNDROME 1, HOLOPROSENCEPHALY-9, MULLERIAN APLASIA AND HYPERANDROGENISM, OCULOECTODERMAL SYNDROME, LOEYS-DIETZ SYNDROME 1, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, CRANIOMETAPHYSEAL DYSPLASIA, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, QUESTION MARK EARS, ISOLATED, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SED CONGENITA, KNIEST DYSPLASIA, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, SPONDYLOPERIPHERAL DYSPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYHRE SYNDROME, MACROCEPHALY/AUTISM SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 53, MUENKE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, SERKAL SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, NICOLAIDES-BARAITSER SYNDROME, MICROPHTHALMIA, ISOLATED 3, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, ELLIS-VAN CREVELD SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, LIANG DISTAL MYOPATHY, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PARIETAL FORAMINA 1, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, GLAUCOMA 1A, PRIMARY OPEN ANGLE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, ROBINOW SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, DENTIN DYSPLASIA, TYPE II, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ?IMMUNODEFICIENCY 37, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, FIBROCHONDROGENESIS 2, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, CLOVE SYNDROME, SOMATIC, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, SMITH-MAGENIS SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, JACKSON-WEISS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DEAFNESS, X-LINKED 2, WOLCOTT-RALLISON SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, EPITHELIAL RECURRENT EROSION DYSTROPHY, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, ALEXANDER DISEASE, GELEOPHYSIC DYSPLASIA 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, CRANIOSYNOSTOSIS, TYPE 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, FRONTONASAL DYSPLASIA 2, ULNAR-MAMMARY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, ACROMICRIC DYSPLASIA, ADULT SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, MICROPHTHALMIA, SYNDROMIC 6, LERI-WEILL DYSCHONDROSTEOSIS, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, OSTEOGENESIS IMPERFECTA, TYPE XV, SCHNECKENBECKEN DYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 13, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, LADD SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, IRIS HYPOPLASIA AND GLAUCOMA, IRIDOGONIODYSGENESIS, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, HOLOPROSENCEPHALY-5, PALLISTER-HALL SYNDROME, RABSON-MENDENHALL SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 11, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, FAILURE OF TOOTH ERUPTION, PRIMARY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, PHEX, WNT5A, FOXC1, COL1A1, ICK, SALL1, ACTB, TAPT1, GNAS, GLI3, RAI1, MSX1, ARSE, EBP, F2, MAG, AGT, COL11A2, PPARG, CTNNB1, COL5A1, TRAPPC2, SOX2, PTHLH, CDH1, GJA1, SOX10, MYH7, PLG, SPG7, NOG, FGF3, SALL4, SIX3, WNT4, GDF5, NOP56, PIK3CA, TGFBI, SMARCA2, BMP4, PAX1, BMPER, JAG1, AFG3L2, DLL4, SMAD4, CREBBP, COL2A1, GAS1, RBPJ, SF3B4, DMP1, EVC, TCOF1, CHD7, GNAQ, RUNX1, GLI2, PAX6, SP7, IGF2, GRN, NOTCH1, MYCN, SMARCB1, BUB1B, MTOR, FGFR1, MEF2C, COL3A1, COL9A2, MSX2, CCND1, COMP, FBN2, PTH1R, SPARC, WNT1, TGFBR1, EP300, HGF, TBX3, ZBTB16, NKX3-2, RBP4, FGF23, RPS6KA3, TP63, DDR2, DEAF1, INS, LRP6, GFAP, PAX8, PTCH1, FAM20C, EDN1, TTR, GPC3, ARSB, BMP1, WNT7A, SUFU, IGF1, ZIC2, PAX2, INSR, COL17A1, SERPINI1, KRAS, YAP1, MYOC, PITX2, SOX9, VHL, ANKH, COL4A1, PPP2R1A, HES7, NDN, AKT1, SMARCA4, PRKDC, SHOX, FOXC2, IGF1R, ATXN1, HOXB1, TP53, COQ6, FBN1, SH3PXD2B, IHH, COL1A2, TNFRSF11B, CDKN1C, HOXA11, PTEN, FGFR3, DLX5, RUNX2, GSC, VDR, FLNA, HTRA1, NGF, IL1B, PAX3, DSPP, POU3F4, FOXG1, TGFB1, COL5A2, GATA6, VCP, RAX, FGF10, BCL10, STAT3, TCF4, TRPS1, WNT10A, SLC35D1, DNMT1, ALX4, COL4A3, GATA4, DCN, CACNA1S, SLC35A3, ALPL, COL18A1, TBX6, SOX11, TNC, HRAS, EGFR, EIF2AK3, SMAD3, TERT, HSPG2, COL7A1, GATA2, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, CAMURATI-ENGELMANN DISEASE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA WITH COLOBOMA 5, FEINGOLD SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, STICKLER SYNDROME, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, STICKLER SYNDROME, TYPE I, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MICROPHTHALMIA, SYNDROMIC 6, OSTEOGENESIS IMPERFECTA, TYPE XIII, WAARDENBURG SYNDROME, TYPE 2D, RUBINSTEIN-TAYBI SYNDROME 2, KEUTEL SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, ROBINOW SYNDROME, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, FIBROCHONDROGENESIS 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MARSHALL SYNDROME

ACE, TGFB2, BMP1, SOX9, IGF1, TGFB1, THRA, COL11A1, CDH1, CTNNB1, WNT5A, COL2A1, MYCN, TGFBR1, EP300, CHAT, ROR2, BMP4, SNAI2, MGP, CREBBP, WNT7A, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CORNEAL DYSTROPHY, LATTICE TYPE I, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA WITH COLOBOMA 5, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARASIL SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), WAARDENBURG SYNDROME, TYPE 2D, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOPHOSPHATASIA, INFANTILE, CORNEAL DYSTROPHY, CONGENITAL STROMAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PYCNODYSOSTOSIS, MULTIPLE SYNOSTOSES SYNDROME 1, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TOOTH AGENESIS, SELECTIVE, 7, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RETT SYNDROME, CONGENITAL VARIANT, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, SADDAN, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SPINOCEREBELLAR ATAXIA 21, PSEUDOHYPOPARATHYROIDISM IC, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), OSTEOGENESIS IMPERFECTA, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, RUBINSTEIN-TAYBI SYNDROME, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, CATSHL SYNDROME, CRANIOSYNOSTOSIS, TYPE 2, URBACH-WIETHE DISEASE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, MULTIPLE SYNOSTOSES SYNDROME 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MICROPHTHALMIA, SYNDROMIC 6, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, ACHONDROGENESIS IB, TARSAL-CARPAL COALITION SYNDROME, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, VAN MALDERGEM SYNDROME 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SYMPHALANGISM, PROXIMAL, 1A, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HYPOPHOSPHATEMIC RICKETS, AR, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, COLE-CARPENTER SYNDROME 1, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, AXENFELD-RIEGER SYNDROME, TYPE 1, PEROXISOME BIOGENESIS DISORDER 3B, LAMB-SHAFFER SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SCLEROSTEOSIS 1, BRACHYDACTYLY, TYPE E2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, QUESTION MARK EARS, ISOLATED, SPINOCEREBELLAR ATAXIA 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ALAGILLE SYNDROME, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, MEGALOCORNEA 1, X-LINKED, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, DEAFNESS, AUTOSOMAL RECESSIVE 53, MUENKE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, DEAFNESS, AUTOSOMAL DOMINANT 17, KEUTEL SYNDROME, EPSTEIN SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, DENTIN DYSPLASIA, TYPE II, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, VAN MALDERGEM SYNDROME 2, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PSEUDOHYPOPARATHYROIDISM IA, PEROXISOME BIOGENESIS DISORDER 11B, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PARIETAL FORAMINA 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, DISTAL, TATEYAMA TYPE, PHYTANIC ACID STORAGE DISEASE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, FECHTNER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, CORNEAL DYSTROPHY, AVELLINO TYPE, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, DEAFNESS, AUTOSOMAL DOMINANT 13, LADD SYNDROME, IRIS HYPOPLASIA AND GLAUCOMA, IRIDOGONIODYSGENESIS, TYPE 1, WAARDENBURG SYNDROME, TYPE 4C, DEJERINE-SOTTAS DISEASE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, BRACHYOLMIA TYPE 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC

DCHS1, PEX14, F2, APOB, MPDZ, COL1A1, GNAS, SOX5, ALPL, AGT, COL11A2, PPARG, LEP, CDK5, PTHLH, PHYH, EDN1, WNT5A, SOX10, FGF23, NOG, EGR2, PEX13, NPR2, GDF5, TGFBI, BMP4, BMPER, JAG1, SNAI2, COL13A1, CREBBP, ECM1, COL2A1, CTNNB1, ACTA1, WNT7A, FGFR3, SLC26A2, RUNX1, SP7, P4HB, THRA, RYR1, CHRM3, MEF2C, CHRDL1, MSX2, CCND1, IFNG, ATP6V1B1, SPARC, IMPAD1, TGFBR1, TNFRSF11A, STAT3, DDR2, AXIN2, INS, LRP6, GDF2, CAV3, ALDOA, BMP1, SOX9, IGF1, CTSK, PAX2, FOXC1, TGFB3, PITX2, PPP2R1A, FOXG1, AKT1, SEMA3A, INPPL1, FOXC2, ATXN1, APOA1, TP53, HGF, TWIST1, CDH1, IL1B, DMP1, TRPV4, ACVRL1, DLX5, RUNX2, SCYL1, HTRA1, NGF, DSPP, FAT4, TGFB1, PIK3R2, SOST, PEX12, MYH9, FGF10, EXT2, INSR, COL6A1, IL6, DCN, BDNF, GRIN2B, CHAT, HRAS, EGFR, EIF2AK3, MGP, SMAD3, HSPG2, PEX7, PDGFB, SHH

CORNEAL DYSTROPHY, LATTICE TYPE I, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, BLAU SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 23, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, BRACHIOOTIC SYNDROME 3, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, DEAFNESS, AUTOSOMAL RECESSIVE 68, DUANE-RADIAL RAY SYNDROME, MACULAR DYSTROPHY, RETINAL, 2, MENTAL RETARDATION, X-LINKED 12/35, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, PSEUDOHYPOPARATHYROIDISM IC, COLD-INDUCED SWEATING SYNDROME 2, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ?SECKEL SYNDROME 4, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 6, RUBINSTEIN-TAYBI SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, MELNICK-FRASER SYNDROME, NEPHROTIC SYNDROME, TYPE 8, COFFIN-SIRIS SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, AXENFELD-RIEGER SYNDROME, TYPE 1, DYSTONIA 9, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, IVIC SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, CORNELIA DE LANGE SYNDROME 3, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, ATAXIA-TELANGIECTASIA, COFFIN-SIRIS SYNDROME 4, QUESTION MARK EARS, ISOLATED, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, DEAFNESS, AUTOSOMAL RECESSIVE 70, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ALAGILLE SYNDROME 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HAJDU-CHENEY SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, COMPLEMENT FACTOR I DEFICIENCY, PAGET DISEASE OF BONE 3, DEAFNESS, AUTOSOMAL RECESSIVE 39, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LEUKOCYTE ADHESION DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, RETINITIS PIGMENTOSA 41, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

RPL5, THOC2, PARK7, SHH, PPARG, SMARCA4, TP53, IL1B, HNRNPK, EGFR, RUNX1, PTEN, AR, SMC3, SQSTM1, TGFB1, GNAS, NOTCH2, ATM, PROM1, SLC2A1, TGFBI, PITX2, HLA-DRB1, EDNRA, NOD2, CD3E, EDN1, HLA-B, MECP2, AKT2, ITGB2, CDH1, IL7R, BTK, PRKDC, GJA1, PTPRC, SIX1, APTX, CFI, IL6, IFNG, SALL4, STAT1, HTT, IRF8, HGF, EP300, HSPD1, AKT1, SMARCB1, BMP4, EXOSC3, S1PR2, RBPJ, ARHGDIA, RB1, TNFRSF11B, CREBBP, TNFRSF1A, STAT3, CLCF1, PNPT1, PTPN11, INS, JAM3, CENPJ, RORC, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], OSTEOGENESIS IMPERFECTA, TYPE I, CAMURATI-ENGELMANN DISEASE, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, GLUTAMINE DEFICIENCY, CONGENITAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, MICROPHTHALMIA WITH COLOBOMA 5, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, CEROID LIPOFUSCINOSIS, NEURONAL, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, COLE-CARPENTER SYNDROME 2, DYSTONIA-11, MYOCLONIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), LISSENCEPHALY 5, EPISODIC ATAXIA, TYPE 2, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RENAL TUBULAR DYSGENESIS, CEROID LIPOFUSCINOSIS, NEURONAL, 8, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, OSTEOGENESIS IMPERFECTA, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE III, OCULODENTODIGITAL DYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 63, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, DIAMOND-BLACKFAN ANEMIA 9, SHORT SYNDROME, ANGELMAN SYNDROME, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, LEBER OPTIC ATROPHY, MICROPHTHALMIA, SYNDROMIC 6, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, PITT-HOPKINS-LIKE SYNDROME 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SPINOCEREBELLAR ATAXIA 6, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, MEDNIK SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GRISCELLI SYNDROME, TYPE 1, TIMOTHY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, MYASTHENIC SYNDROME, CONGENITAL, 5, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, GABA-TRANSAMINASE DEFICIENCY, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, CHOROID PLEXUS PAPILLOMA, ?DYSTONIA 23, MYOTUBULAR MYOPATHY, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GALACTOSE EPIMERASE DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SESAME SYNDROME, BLOOM SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 3, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, PAGET DISEASE OF BONE 3, MYOCLONIC-ATONIC EPILEPSY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPISODIC ATAXIA, TYPE 6, PALLISTER-HALL SYNDROME, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

WNT7A, PEX14, SYT2, LAMB1, LRTOMT, SQSTM1, NGF, SEC24D, TH, QDPR, PTEN, DRD2, KCNJ10, PITX3, GLI3, GLUL, MYO5A, CACNA1A, PARK7, SLC1A3, AGT, TGFB1, DMD, SNCA, SLC6A3, PRKACA, CASK, CACNA1C, PARK2, COLQ, CACNA1B, BMP4, HNRNPK, AKT1, ALDH2, CLN3, BLM, VAMP1, GJA1, GALE, SNCAIP, ATP1A2, MET, TP53, UBE3A, MT-CYB, PITX2, BDNF, DVL1, COL1A1, DNM2, CHAT, AP1S1, CDH1, SLC6A1, PPT1, EGFR, RPS10, SYN1, GAD1, ALDH5A1, STXBP1, MUSK, ADCY6, SNAP29, SHH, CLN8, GCH1, NRXN1, DNM1L, SNAP25, PAH, ABAT, PIK3R1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, PEROXISOME BIOGENESIS DISORDER 5B, HYPER-IGE RECURRENT INFECTION SYNDROME, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, SHORT SYNDROME, ADENYLOSUCCINASE DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COENZYME Q10 DEFICIENCY, PRIMARY, 6, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GLUTARICACIDURIA, TYPE I, CEROID LIPOFUSCINOSIS NEURONAL 6, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, LATHOSTEROLOSIS, MUCOPOLYSACCHARIDOSIS IS, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, HYPOPHOSPHATASIA, INFANTILE, ?UROCANASE DEFICIENCY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, RENAL TUBULAR DYSGENESIS, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, GLUTAMINE DEFICIENCY, CONGENITAL, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PARKINSON DISEASE 20, EARLY-ONSET, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, SULFITE OXIDASE DEFICIENCY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, DIAMOND-BLACKFAN ANEMIA 9, ALKAPTONURIA, NEPHROTIC SYNDROME, TYPE 8, COFFIN-SIRIS SYNDROME 3, LEBER OPTIC ATROPHY, STRIATONIGRAL DEGENERATION, INFANTILE, JACKSON-WEISS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, MYOPATHY, DISTAL, TATEYAMA TYPE, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 14, PERRAULT SYNDROME 1, KAHRIZI SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, VITAMIN D-DEPENDENT RICKETS, TYPE I, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, CANAVAN DISEASE, PEROXISOME BIOGENESIS DISORDER 3B, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE IX, COFFIN-SIRIS SYNDROME 4, ETHYLMALONIC ENCEPHALOPATHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, NOONAN SYNDROME 10, GLYCEROL KINASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FOCAL FACIAL DERMAL DYSPLASIA 4, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, RESTRICTIVE DERMOPATHY, LETHAL, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), MUSCULAR DYSTROPHY, CONGENITAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IH/S, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, NIEMANN-PICK DISEASE, TYPE B, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NICOLAIDES-BARAITSER SYNDROME, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ALAGILLE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, GALACTOSE EPIMERASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 11B, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, GABA-TRANSAMINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED 72, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PHYTANIC ACID STORAGE DISEASE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, HYPOPHOSPHATASIA, CHILDHOOD, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, HYPOBETALIPOPROTEINEMIA, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, MACROCEPHALY/AUTISM SYNDROME, AGAMMAGLOBULINEMIA 3, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, 2-METHYLBUTYRYLGLYCINURIA, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 3, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, DYSAUTONOMIA, FAMILIAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

APOE, PEX14, CAV1, AMACR, APOB, CAV3, ADSL, ACADS, SRD5A3, ATP6V1B1, SUOX, AGT, GPT2, PPARG, RAB39B, ETHE1, HIBCH, PHYH, CTNNB1, IDUA, AKT2, LIPE, IBA57, PEX13, SPTAN1, DES, ABCD1, ASPM, JAG1, DLD, SMAD4, MTMR2, INPP5E, AUH, ARHGDIA, CPT2, IKBKAP, ACOX1, ETFDH, PEX5, SMARCA2, TNNT3, SMARCA4, UROC1, QDPR, CD79A, CYP26C1, GLUL, LMNB1, CCND1, LRP1, MTOR, FGFR1, HGD, ALDH6A1, COQ6, LEP, LMNA, PIK3CD, AGXT, HADHA, SCP2, GK, NR1I3, IFNG, SC5D, EEF1A2, EP300, HSPD1, GCDH, MT-CYB, RPS10, EEF2, FANCA, ALDH5A1, FGF23, STAT3, INS, PAM16, ALDH2, QARS, TTR, ALPL, OAT, SMPD1, SUFU, HSD17B10, CDK5, VWF, CBS, CYP27B1, STAT1, REN, CTSD, VHL, NUP62, PPP2R1A, BRCA1, AKT1, GALE, VDR, PPIB, TP53, TUBGCP4, NEFL, MPDZ, IL1B, GAD1, ACADSB, PTEN, ECHS1, LZTR1, INPPL1, PAH, ASNS, SMARCB1, PDSS2, HCCS, ALB, HSD17B4, PTPN11, PEX12, DARS, HADHB, MT-CO2, SYNJ1, ETFA, ABHD12, GLUD2, IL6, FANCC, PCNA, PEX19, TUFM, ASPA, PEX2, PEX7, EPM2A, DHFR, ABAT, PIK3R1

BARAITSER-WINTER SYNDROME 1, SUPRANUCLEAR PALSY, PROGRESSIVE, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, RETINITIS PIGMENTOSA-40, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, USHER SYNDROME, TYPE 1B, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 4A, NICOLAIDES-BARAITSER SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?CATARACT 43, BANNAYAN-RILEY-RUVALCABA SYNDROME, SHORT SYNDROME, MENTAL RETARDATION, X-LINKED 102, ADENYLOSUCCINASE DEFICIENCY, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, COCKAYNE SYNDROME, TYPE B, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIAMOND-BLACKFAN ANEMIA 6, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, DEAFNESS, AUTOSOMAL DOMINANT 11, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ZIMMERMANN-LABAND SYNDROME 2, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FECHTNER SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, CORNELIA DE LANGE SYNDROME 3, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, ?AL-GAZALI-BAKALINOVA SYNDROME, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), HYPOPHOSPHATASIA, INFANTILE, FRASER SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), GLYCOGEN STORAGE DISEASE XII, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, WARSAW BREAKAGE SYNDROME, ATAXIA-TELANGIECTASIA-LIKE DISORDER, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, LEUKODYSTROPHY, HYPOMYELINATING, 4, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, NIEMANN-PICK DISEASE TYPE C1, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, LEPRECHAUNISM, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, SPINOCEREBELLAR ATAXIA 15, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ?OPTIC ATROPHY 9, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PARKINSON DISEASE 1, ?MENTAL RETARDATION, X-LINKED 100, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LOEYS-DIETZ SYNDROME 3, BARAITSER-WINTER SYNDROME 2, FILS SYNDROME, OCCIPITAL HORN SYNDROME, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, {AUTISM, SUSCEPTIBILITY TO, 18}, ROTHMUND-THOMSON SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, LEBER OPTIC ATROPHY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ALTERNATING HEMIPLEGIA OF CHILDHOOD, FRAGILE X SYNDROME, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, DYSTONIA-12, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, CYSTINOSIS, OCULAR NONNEPHROPATHIC, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, OSTEOGENESIS IMPERFECTA, TYPE IX, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, CORPUS CALLOSUM AGENESIS, PEROXISOME BIOGENESIS DISORDER 4B, NEUROFIBROMATOSIS, TYPE 1, HEIMLER SYNDROME 2, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, HEIMLER SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, LISSENCEPHALY 6, WITH MICROCEPHALY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, COWCHOCK SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, BJORNSTAD SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, MEIER-GORLIN SYNDROME 1, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MILLER SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), INFANTILE CEREBELLAR-RETINAL DEGENERATION, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ARTS SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 8, ATAXIA-TELANGIECTASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, RETINITIS PIGMENTOSA 13, ?MECKEL SYNDROME 12, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, FRAGILE X TREMOR/ATAXIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, MACROCEPHALY/AUTISM SYNDROME, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, DEAFNESS, AUTOSOMAL DOMINANT 17, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, EPSTEIN SYNDROME, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, LIANG DISTAL MYOPATHY, CORNELIA DE LANGE SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, RETINITIS PIGMENTOSA 45, ?HYDROLETHALUS SYNDROME 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, SPINOCEREBELLAR ATAXIA 17, MYASTHENIC SYNDROME, CONGENITAL, 16, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MENTAL RETARDATION, X-LINKED 19, LISSENCEPHALY 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, RABSON-MENDENHALL SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, PEROXISOME BIOGENESIS DISORDER 11B, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, MEIER-GORLIN SYNDROME 4, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, CRANIOSYNOSTOSIS, TYPE 2, DEAFNESS, X-LINKED 5, SECKEL SYNDROME 1, DEAFNESS, X-LINKED 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LEUKODYSTROPHY, HYPOMYELINATING, 9, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, HYPOPHOSPHATASIA, CHILDHOOD, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, XERODERMA PIGMENTOSUM, GROUP D, WATSON SYNDROME, DYSTONIA-PARKINSONISM, X-LINKED, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, KARTAGENER SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 37, XERODERMA PIGMENTOSUM, GROUP C, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, DYSTONIA-1, TORSION, SPINOCEREBELLAR ATAXIA 12, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, DEAFNESS, AUTOSOMAL RECESSIVE 30, MENKES DISEASE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, ?SECKEL SYNDROME 8, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, BONE MARROW FAILURE SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, XERODERMA PIGMENTOSUM, GROUP B, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, CHOROID PLEXUS PAPILLOMA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ALEXANDER DISEASE, CODAS SYNDROME, PARIETAL FORAMINA 1, DEAFNESS, AUTOSOMAL RECESSIVE 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, COLE DISEASE, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TANGIER DISEASE, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

MPDZ, BRCA2, TOR1A, PAFAH1B1, PRPF8, PEX13, CNBP, ORC1, ACTB, KIF1C, PEX14, PGK1, BCAP31, RPL5, MYO7A, ALDOA, ATP6V1B2, ENPP1, GFAP, ATP1A2, ABCD1, DNAH5, RECQL4, MYH14, EIF4A3, IGHMBP2, CHD8, KIF7, KIF1B, ATP2B2, ERCC6, CHCHD10, DNAH8, DES, CDT1, WNK1, GFI1B, ERCC2, ABCA1, SPAST, ADSL, APOA2, ABCB6, PRKAG2, MRE11A, MYO6, DYNC2H1, KIF1A, PEX5, ACTA1, AIFM1, SMARCA2, ATRX, GRIP1, SMARCA4, APOA1, MEGF10, ABCA12, KIF4A, AR, DDX11, WRN, ERCC3, MAPT, SKIV2L, CASK, TAF6, SNIP1, PIK3CD, GFPT1, EXOSC8, KIF5C, TUBB2B, LONP1, CCND1, TAP1, UNC45B, FANCC, TUBG1, ITPR1, GMPPB, TAF1, HSPD1, RBPJ, DPYD, MT-CYB, ALPL, ABCD4, FANCA, TNNT2, ABCA5, RPS6KA3, COL4A3BP, STAT3, PDE6B, INS, ABCC8, SMC3, MT-CO1, BANF1, DDX3X, KIF14, PRPS1, MT-ATP6, CTNNB1, MYH3, CLASP1, CTNS, KIF2A, STAT1, HDAC6, TNNT3, CTDP1, PEX6, TUBB, BCS1L, PPP2R1A, SMARCAL1, PMPCA, BRCA1, AKT1, TUBB3, GALE, PRKDC, NDUFS1, KATNB1, VCP, TP53, PPIB, CDK5RAP2, ATP1A3, SLC25A4, DCTN1, TUBA1A, DNA2, CNGB1, KIF11, EIF2B2, SNCA, DNAH1, CDKN1C, HSPA9, ATIC, NF1, NPC1, XPC, ATP13A2, PPP2R2B, DDOST, DYNC1H1, DHODH, ADK, NHP2, ABCC6, PEX1, ATP6V1B1, ATXN2, MYH7, VPS13A, ACTG1, ERCC6L2, JAGN1, LAMA2, KIF22, ENTPD1, MSX2, ATM, DARS, TBP, MYO3A, ATP7A, TGFB1, SPTLC1, MT-CO2, FXN, INSR, CENPE, AKT3, POLE, FMR1, BLM, ABCA4, ABCC9, GATA4, MYH8, RTEL1, PCNA, ATP5A1, GRIN2B, PEX19, ACTN1, PTEN, KIF21A, ACO2, AMPD2, MYH9, DNAJC3, POLR3B, SMAD3, ATR, PIK3R1, TAP2, TUFM, RARS, SURF1

MULLERIAN APLASIA AND HYPERANDROGENISM, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA WITH COLOBOMA 5, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, PARAGANGLIOMAS 2, GILLESPIE SYNDROME, POLYMORPHOUS CORNEAL DYSTROPHY, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TOOTH AGENESIS, SELECTIVE, 7, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PITT-HOPKINS SYNDROME, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, PROGRESSIVE MYOCLONUS EPILEPSY WITH ATAXIA, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, PERRY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OLIGODONTIA-COLORECTAL CANCER SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, FOVEAL HYPOPLASIA 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LOEYS-DIETZ SYNDROME 3, ADAMS-OLIVER SYNDROME 3, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MICROPHTHALMIA, SYNDROMIC 6, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, WAARDENBURG SYNDROME, TYPE 3, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, SEGAWA SYNDROME, RECESSIVE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ?OSTEOGENESIS IMPERFECTA, TYPE XII, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, CLEFT PALATE, ISOLATED, LAMB-SHAFFER SYNDROME, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, DENTAL ANOMALIES AND SHORT STATURE, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, CATARACT 13 WITH ADULT I PHENOTYPE, CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE, ECTOPIA LENTIS, FAMILIAL, WAARDENBURG SYNDROME, TYPE 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, BRANCHIOOTIC SYNDROME 1, LOEYS-DIETZ SYNDROME 5, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, CRANIOSYNOSTOSIS, TYPE 2, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, ACROMICRIC DYSPLASIA, LADD SYNDROME, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, SERKAL SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

SOX9, EZH2, TGFB2, SHH, LRP6, SMARCA4, AXIN2, WNT4, TH, EP300, SMAD4, AR, SP7, STK11, P4HB, AKT1, TGFB1, GLI3, PAX2, COL1A1, SOX5, RUNX1, TGFB3, CDKN2A, TBX3, AGT, IGF1, PPARG, TCF4, NOTCH1, JAG1, CDH1, IHH, SOX2, KDM6A, CCND1, PAX8, OVOL2, DVL1, GCNT2, TP53, TACSTD2, PDGFRA, GATA4, PAX3, DCTN1, FBN1, TGFBR1, ASCL1, TBP, TWIST1, RBPJ, HRAS, GATA6, BMP4, PAX6, PRICKLE1, NOTCH3, RUNX2, TGFBR2, SMAD3, LTBP3, CREBBP, FGF10, STAT3, MSX2, DLX5, CTNNB1, EYA1, SDHAF2

BARAITSER-WINTER SYNDROME 1, SUPRANUCLEAR PALSY, PROGRESSIVE, STAR SYNDROME, USHER SYNDROME, TYPE 1B, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, DEAFNESS, AUTOSOMAL RECESSIVE 9, AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, NEPHRONOPHTHISIS 18, DEAFNESS, AUTOSOMAL DOMINANT 11, COLE-CARPENTER SYNDROME 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, BARDET-BIEDL SYNDROME 6, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, FECHTNER SYNDROME, HUTCHINSON-GILFORD PROGERIA, WARBURG MICRO SYNDROME 2, HERMANSKY-PUDLAK SYNDROME 1, BARDET-BIEDL SYNDROME 3, STROMME SYNDROME, APLASIA OF LACRIMAL AND SALIVARY GLANDS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, RUBINSTEIN-TAYBI SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 23, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MYOTUBULAR MYOPATHY, X-LINKED, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, USHER SYNDROME, TYPE 1G, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, BARDET-BIEDL SYNDROME 4, PARKINSON DISEASE 20, EARLY-ONSET, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, BARDET-BIEDL SYNDROME 7, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, MELNICK-FRASER SYNDROME, OCULOECTODERMAL SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, PARKINSON DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MARTSOLF SYNDROME, JACKSON-WEISS SYNDROME, SEBASTIAN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, MALOUF SYNDROME, WAARDENBURG SYNDROME, TYPE 3, HERMANSKY-PUDLAK SYNDROME 2, USHER SYNDROME, TYPE 1F, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LISSENCEPHALY 6, WITH MICROCEPHALY, EMBERGER SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, WIEDEMANN-STEINER SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, HERMANSKY-PUDLAK SYNDROME 9, ?MYASTHENIC SYNDROME, CONGENITAL, 18, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, CHUDLEY-MCCULLOUGH SYNDROME, EPSTEIN SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?SECKEL SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BRANCHIOOTIC SYNDROME 1, RETINITIS PIGMENTOSA 74, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, CATARACT 18, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BARDET-BIEDL SYNDROME 5, BARDET-BIEDL SYNDROME 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, LISSENCEPHALY 4 (WITH MICROCEPHALY), ECTOPIA LENTIS ET PUPILLAE, DEAFNESS, AUTOSOMAL RECESSIVE 37, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, CROUZON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, DYSTONIA-1, TORSION, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 2, BRACHYOLMIA TYPE 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, HERMANSKY-PUDLAK SYNDROME 7, AU-KLINE SYNDROME

CA2, APOE, FAM58A, CLN3, LMNA, TH, ACTB, CENPF, ATP6V1B1, MYO7A, MYO5A, CDK5, BBS4, CDH1, PAFAH1B1, EIF4A3, BBS1, NDRG1, CLASP1, DNM2, NOP56, BLOC1S6, BBS2, CREBBP, MYO6, ACTA1, DDC, SMARCA4, ERBB3, PCDH15, P4HB, LMNB1, MAPT, BUB1B, GATA2, SYNE1, OPHN1, PIK3CD, GTPBP3, MET, HTT, TUBG1, MKKS, HSPD1, TUBGCP4, BBS7, ARL6, SNAP25, EYA1, PCNA, SMC3, CEP83, CTNNB1, RAB3GAP2, SPTBN2, PPP2R1A, KRAS, SYN1, DMD, FYCO1, KIF1B, BRCA1, SMC1A, NDE1, KATNB1, DTNBP1, TP53, CDK5RAP2, DCTN1, HNRNPK, TOR1A, KIF11, SNCA, STXBP1, TRPV4, SNAP29, DYNC1H1, CENPJ, BBS5, AR, NGF, STUB1, PAX3, SYNJ1, ATM, TBP, LRPPRC, AP3B1, FGF10, PCLO, PRKACA, GPSM2, CENPE, FGFR2, ADAMTSL4, GRIN2B, OTOF, PAM16, HRAS, EGFR, MYH9, HSPG2, EXOC8, CASK, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, WEAVER SYNDROME, ?LICHTENSTEIN-KNORR SYNDROME, CORNELIA DE LANGE SYNDROME 3, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BARDET-BIEDL SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, HUTCHINSON-GILFORD PROGERIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, LARSEN SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, PERRY SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, ATELOSTEOGENESIS, TYPE I, ?SECKEL SYNDROME 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ?RETINITIS PIGMENTOSA 67, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BARAITSER-WINTER SYNDROME 1, GLYCOGEN STORAGE DISEASE II, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, FRONTOMETAPHYSEAL DYSPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, WIEDEMANN-STEINER SYNDROME, MELNICK-NEEDLES SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, HYPOBETALIPOPROTEINEMIA, BLEEDING DISORDER, PLATELET-TYPE, 15, RESTRICTIVE DERMOPATHY, LETHAL, MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE, CAMURATI-ENGELMANN DISEASE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, DEJERINE-SOTTAS DISEASE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, SECKEL SYNDROME 7, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, FRAXE, CHOROID PLEXUS PAPILLOMA, MALOUF SYNDROME, ATELOSTEOGENESIS, TYPE III, MANDIBULOACRAL DYSPLASIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE

APOB, PEX14, DNM2, CAV1, SLC9A1, TP53, APOE, SUFU, SERPINA1, ACTB, NEK2, TGFB1, CHAMP1, TAP1, TBP, CASC5, DAG1, NIN, STAT1, SYNE1, WAS, MT-CO2, MRPL44, BBS4, LMNA, CEP63, FLNA, SMC1A, CEP57, CTNNB1, PRKDC, DSP, GAA, LRPPRC, THRA, NFKBIA, PRX, ARL2BP, CLASP1, GATA4, DCTN1, EZH2, ACTN1, FLNB, HRAS, ASPM, GRIP1, LRP1, VPS35, RB1, ALB, GRID2, STAT3, DST, ITGA6, ACD, SMC3, CCND1

BARAITSER-WINTER SYNDROME 1, SUPRANUCLEAR PALSY, PROGRESSIVE, USHER SYNDROME, TYPE 1B, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, DEAFNESS, AUTOSOMAL RECESSIVE 9, AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, DEAFNESS, AUTOSOMAL DOMINANT 11, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, HERMANSKY-PUDLAK SYNDROME 1, BARDET-BIEDL SYNDROME 3, STROMME SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, HUNTINGTON DISEASE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, BARDET-BIEDL SYNDROME 4, PARKINSON DISEASE 20, EARLY-ONSET, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, BARDET-BIEDL SYNDROME 7, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, PERRY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PARKINSON DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JACKSON-WEISS SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, ?MICROHYDRANENCEPHALY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GRISCELLI SYNDROME, TYPE 1, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, ATAXIA-TELANGIECTASIA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?DYSTONIA, JUVENILE-ONSET, DUCHENNE MUSCULAR DYSTROPHY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 8, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HERMANSKY-PUDLAK SYNDROME 9, ?MYASTHENIC SYNDROME, CONGENITAL, 18, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, BARDET-BIEDL SYNDROME 6, RETINITIS PIGMENTOSA 74, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, CATARACT 18, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BARDET-BIEDL SYNDROME 5, BARDET-BIEDL SYNDROME 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, LISSENCEPHALY 4 (WITH MICROCEPHALY), DEAFNESS, AUTOSOMAL RECESSIVE 37, CROUZON SYNDROME, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, DYSTONIA-1, TORSION, LADD SYNDROME, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 2, BRACHYOLMIA TYPE 3, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 7

CA2, CLN3, BBS5, DNM2, NDE1, NGF, STUB1, PCLO, CDK5, ACTB, CENPF, MKKS, SYNJ1, MAPT, ATM, MYO5A, KRAS, DDC, AP3B1, BUB1B, CORO1A, EXOC8, PRKACA, CASK, FYCO1, GRIN2B, BBS4, OPHN1, SNCA, BRCA1, CDH1, PAFAH1B1, GTPBP3, SOS1, FGFR2, BBS1, MYO7A, DTNBP1, MET, TUBGCP4, TP53, NDRG1, BBS2, CLASP1, HTT, DCTN1, TH, TUBG1, TBP, OTOF, SNAP25, HRAS, EGFR, BBS7, BLOC1S6, ACTA2, ARL6, STXBP1, TRPV4, SYN1, AP4B1, TOR1A, SNAP29, DYNC1H1, MYO6, CTNNB1, DMD, PIK3R1

CORNEAL DYSTROPHY, LATTICE TYPE I, LEUKODYSTROPHY, HYPOMYELINATING, 4, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CORNEAL DYSTROPHY, AVELLINO TYPE, MACULAR DYSTROPHY, RETINAL, 2, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PAGET DISEASE OF BONE 3, BLAU SYNDROME, ANGELMAN SYNDROME, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, TUBEROUS SCLEROSIS 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, RETINITIS PIGMENTOSA 41, LEOPARD SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, CHOROID PLEXUS PAPILLOMA

TGFBI, EGFR, MECP2, NOD2, RUNX1, IFNG, IL1B, TP53, PROM1, CREBBP, IRF8, AR, HLA-B, HNRNPK, PTPRC, PTPN11, SQSTM1, HSPD1, IL7R, HRAS

CORNEAL DYSTROPHY, LATTICE TYPE I, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PERIODIC FEVER, FAMILIAL, SHORT SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CORNEAL DYSTROPHY, AVELLINO TYPE, DIAMOND-BLACKFAN ANEMIA 6, HAJDU-CHENEY SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PAGET DISEASE OF BONE 3, BLAU SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, TUBEROUS SCLEROSIS 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DUANE-RADIAL RAY SYNDROME, ALAGILLE SYNDROME 2, RETINITIS PIGMENTOSA 41, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?SECKEL SYNDROME 4, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IVIC SYNDROME, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MACULAR DYSTROPHY, RETINAL, 2

AR, SQSTM1, TGFB1, NOTCH2, ATM, RPL5, TGFBI, STAT3, HLA-B, HRAS, ITGB2, IFNG, SALL4, PROM1, IRF8, HSPD1, JAM3, TNFRSF1A, IL1B, CREBBP, NOD2, PTPRC, RBPJ, CENPJ, PIK3R1

ADAMS-OLIVER SYNDROME 5, BRANCHIOOTIC SYNDROME 1, DIGEORGE SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WEAVER SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, VELOCARDIOFACIAL SYNDROME, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, HYPOPHOSPHATASIA, CHILDHOOD, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CRANIOSYNOSTOSIS, TYPE 2, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, RUBINSTEIN-TAYBI SYNDROME 2, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, FOVEAL HYPOPLASIA 1, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, ADAMS-OLIVER SYNDROME 3, MELNICK-FRASER SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, DEAFNESS, AUTOSOMAL DOMINANT 23, STICKLER SYNDROME, TYPE I, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MICROPHTHALMIA, SYNDROMIC 6, BRACHIOOTIC SYNDROME 3, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, SPONDYLOCOSTAL DYSOSTOSIS 5, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, LOEYS-DIETZ SYNDROME 3, GILLESPIE SYNDROME, CORNELIA DE LANGE SYNDROME 1, PARIETAL FORAMINA 1, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, ROBINOW SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS

TBX1, ALPL, CTNNB1, PAX6, SMAD4, WNT5A, NOTCH1, GATA6, TBX3, RYR1, MEF2C, BMP4, LHX3, GJA1, MSX2, NIPBL, SIX1, CCND1, GATA4, SOX18, EZH2, EP300, TBX6, SOX11, EGFR, EYA1, SMAD3, TFAP2A, ALB, PIK3R1, COL2A1, INS, RBPJ, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CORNEAL DYSTROPHY, LATTICE TYPE I, HYPER-IGE RECURRENT INFECTION SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ?SPINOCEREBELLAR ATAXIA 26, PORENCEPHALY 1, ?RETINAL ARTERIES, TORTUOSITY OF, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TOOTH AGENESIS, SELECTIVE, 7, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RENAL TUBULAR DYSGENESIS, CLEFT PALATE, ISOLATED, JOHANSON-BLIZZARD SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, PARKINSON DISEASE 1, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, SEGAWA SYNDROME, RECESSIVE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, COLE-CARPENTER SYNDROME 1, ?DEAFNESS, X-LINKED 6, KNOBLOCH SYNDROME 1, CORNELIA DE LANGE SYNDROME 4, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, QUESTION MARK EARS, ISOLATED, BANNAYAN-RILEY-RUVALCABA SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, DARIER DISEASE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EHLERS-DANLOS SYNDROME, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE III, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, PEROXISOME BIOGENESIS DISORDER 11B, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ALEXANDER DISEASE, KOSAKI OVERGROWTH SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC