MOLECULAR BASIS

IMMUNODEFICIENCY 19, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, LEOPARD SYNDROME 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22

LCK, PDCD1, STAT1, B2M, CD3G, CD247, IFNG, HLA-DRB1, CD3E, HLA-DQB1, PTPN11, IFNGR1, CD3D, TRAC

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BURKITT LYMPHOMA, CAMURATI-ENGELMANN DISEASE, LOEYS-DIETZ SYNDROME 5, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AORTIC ANEURYSM, FAMILIAL THORACIC 9, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, LOEYS-DIETZ SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, AMELOGENESIS IMPERFECTA, TYPE IH, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MARFAN LIPODYSTROPHY SYNDROME, BRACHYDACTYLY, TYPE C, OSTEOGENESIS IMPERFECTA, TYPE II, MICROPHTHALMIA, SYNDROMIC 6, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MULTIPLE SYNOSTOSES SYNDROME 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMAGE SYNDROME, MACULAR DEGENERATION, EARLY-ONSET, DU PAN SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, EHLERS-DANLOS SYNDROME, TYPE 3, BRACHYDACTYLY, TYPE A1, C, GLANZMANN THROMBASTHENIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, RENAL ADYSPLASIA, DENTAL ANOMALIES AND SHORT STATURE, OSTEOGENESIS IMPERFECTA, TYPE IV, ACROMICRIC DYSPLASIA, CUTIS LAXA, AD, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, BRACHYDACTYLY, TYPE A2, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, QUEBEC PLATELET DISORDER, CHONDRODYSPLASIA, GREBE TYPE, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALAGILLE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, CORNEAL DYSTROPHY, CONGENITAL STROMAL, LOEYS-DIETZ SYNDROME 2, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, ECTOPIA LENTIS, FAMILIAL, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, BLEEDING DISORDER, PLATELET-TYPE, 17, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, GELEOPHYSIC DYSPLASIA 2, BRACHYDACTYLY, TYPE A1, D, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MYHRE SYNDROME, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}

TGFBR1, ACAN, ITGA8, MYC, FBLN1, COL1A1, TGFB1, NOTCH1, ITGB6, TGFB3, TGFB2, LTBP3, BMP2, LEMD3, LTBP2, BMP4, CDH1, FN1, FBLN5, EGFR, DCN, FBN1, ELN, GDF5, COL1A2, FBN2, UBQLN2, LTBP4, CDKN1C, BMPER, JAG1, GFI1B, TGFBR2, SMAD4, BMPR1B, ACVR1, ITGB3, EFEMP2, KDR, MFAP5, IGF1, ATN1, PLAU

BARAITSER-WINTER SYNDROME 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, RETINITIS PIGMENTOSA-40, USHER SYNDROME, TYPE 1B, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, 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, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ?NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, DEAFNESS, AUTOSOMAL DOMINANT 11, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BARAITSER-WINTER SYNDROME 2, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL 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}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, FRONTOTEMPORAL DEMENTIA, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LOEYS-DIETZ SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, RETINITIS PIGMENTOSA 45, OCULODENTODIGITAL DYSPLASIA, HYPERPROINSULINEMIA, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, AORTIC ANEURYSM, FAMILIAL THORACIC 8, PREMATURE OVARIAN FAILURE 7, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CONE-ROD DYSTROPHY 14, CONE DYSTROPHY-3, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, OGUCHI DISEASE-1, LONG QT SYNDROME 14, BURKITT LYMPHOMA, HYPERLIPOPROTEINEMIA, TYPE IB, INCONTINENTIA PIGMENTI, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BRACHYDACTYLY, TYPE A1, D, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LEBER CONGENITAL AMAUROSIS 13, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, ?DYSTONIA, JUVENILE-ONSET, CARDIOMYOPATHY, DILATED, 1NN, RETINITIS PIGMENTOSA 57, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE A2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1D, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 63, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DARIER DISEASE, HEMOCHROMATOSIS TYPE 1, PULMONARY HYPERTENSION, PRIMARY, 3, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LEBER CONGENITAL AMAUROSIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ATRIAL STANDSTILL 2, AORTIC ANEURYSM, FAMILIAL THORACIC 6, DEAFNESS, AUTOSOMAL DOMINANT 20/26, PSEUDOHYPOPARATHYROIDISM IA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, RETINITIS PIGMENTOSA 20, OMODYSPLASIA 1, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 9, ?FIBROMATOSIS, GINGIVAL, 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, PORETTI-BOLTSHAUSER SYNDROME, NOONAN SYNDROME 7, BLUE CONE MONOCHROMACY, HYPOBETALIPOPROTEINEMIA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?RETINITIS PIGMENTOSA 66, QUEBEC PLATELET DISORDER, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, SPERMATOGENIC FAILURE 8, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATRIAL FIBRILLATION, FAMILIAL, 6, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, DEAFNESS, AUTOSOMAL RECESSIVE 2, BOTHNIA RETINAL DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 1, CARDIOMYOPATHY, DILATED, 1U, TANGIER DISEASE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, ACROKERATOSIS VERRUCIFORMIS, PROTEUS SYNDROME, SOMATIC

CALM1, APOE, CAV1, APOB, RDH5, MYC, ACTB, GNAS, IKBKG, GNAT1, AGT, RLBP1, RHO, CDH1, GJA1, RYR2, RARS, RANBP2, BMP4, CLASP1, SLC24A1, DNM2, AKR1C4, ACSL4, TGFBR2, CREBBP, APOA2, GNAQ, APOA1, PLAU, NPPA, GUCY2D, RBP3, DAG1, LAMA1, OPN1LW, LEP, PSEN1, CCND1, AGRN, TGFBR1, ITPR1, PRKG1, SDC3, RBP4, STAT3, PDE6B, INS, BCO1, TTR, GPC3, CTNNB1, STAT1, BMP2, PPP2R1A, TUBB, MYO7A, NR3C1, AKT1, RPE65, GPC6, TUBB2A, LDLR, LRP2, CNGB1, SNCA, LRAT, PDE6G, ACTA2, RAF1, SLC9A3R1, DDOST, RB1, RDH11, ACTG1, ATP2A2, SAG, TGFB1, NR5A1, APOC2, SPTLC1, TUBA4A, SOS1, TP53, BRAF, IL6, DCN, APP, GUCA1A, SNAP25, EGFR, STRA6, OCLN, HTRA1, BMPR1B, HSPG2, RDH12, CASK, PDGFB

BARAITSER-WINTER SYNDROME 1, FACTOR V DEFICIENCY, CAMURATI-ENGELMANN DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, COMPLEMENT FACTOR D DEFICIENCY, MELNICK-NEEDLES SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOPATHY, DISTAL, 4, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, DANON DISEASE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, FRONTOMETAPHYSEAL DYSPLASIA, CORNEAL DYSTROPHY, CONGENITAL STROMAL, GLYCOGEN STORAGE DISEASE XII, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {GLIOMA SUSCEPTIBILITY 9}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL TUBULAR DYSGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, GLIOMA SUSCEPTIBILITY 1, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, HEMOPHILIA A, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, HYPERPROINSULINEMIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, BLEEDING DISORDER, PLATELET-TYPE, 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, DENYS-DRASH SYNDROME, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, BURKITT LYMPHOMA, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, FRAXE, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, COMBINED SAP DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYOPATHY, MYOFIBRILLAR, 5, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HETEROTOPIA, PERIVENTRICULAR, THROMBOCYTHEMIA 3, {MELANOMA, CUTANEOUS MALIGNANT, 3}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, OTOPALATODIGITAL SYNDROME, TYPE I, LI-FRAUMENI SYNDROME, ?DYSTONIA, JUVENILE-ONSET, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, PLATELET GLYCOPROTEIN IV DEFICIENCY, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {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}, SPINOCEREBELLAR ATAXIA 17, KRABBE DISEASE, ATYPICAL, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 5, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, FRASIER SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LYMPHEDEMA, HEREDITARY, ID, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?MYOPATHY, SCAPULOHUMEROPERONEAL, GLANZMANN THROMBASTHENIA, NEPHROTIC SYNDROME, TYPE 4, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LOEYS-DIETZ SYNDROME 4, PROTEUS SYNDROME, SOMATIC, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CALM1, ACTA1, SOD1, CD44, TGFB2, APP, SHH, PSAP, APOA1, MYC, VWF, SERPINA1, F8, F5, FLNC, ACTN4, IGF2, TGFB1, VEGFC, NOS3, FLNA, STAT1, TGFB3, ITGB3, AGT, HRG, TBP, LDLR, TUBA4A, ACTN1, PLG, IL2RA, ALB, AKT1, FN1, PROS1, CALR, ALDOA, F2, IGF1R, ERBB3, JAK2, WT1, ACTB, DCN, SPARC, HGF, ACTN2, CD36, TP53, A2M, ITGA2B, EGFR, CDK4, TTN, IFNG, IGF1, SERPING1, F13A1, POT1, POMC, HSPG2, CFD, CDH1, PIK3R1, SOX2, INS, LAMP2, SERPINE1, CTCF, PDGFB, MMP2

BARAITSER-WINTER SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 5, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, LEOPARD SYNDROME 3, ALEXANDER DISEASE, CAMURATI-ENGELMANN DISEASE, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TRIGONOCEPHALY 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TRICHOMEGALY, IMMUNODEFICIENCY 43, ?RENAL HYPODYSPLASIA/APLASIA 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, CLEFT PALATE, ISOLATED, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?MULTIPLE SYNOSTOSES SYNDROME 3, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HYPERPROINSULINEMIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, LIEBENBERG SYNDROME, SPINOCEREBELLAR ATAXIA 15, ?IMMUNODEFICIENCY 22, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, RETINITIS PIGMENTOSA 13, PARKINSON DISEASE 1, CATSHL SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, BLEEDING DISORDER, PLATELET-TYPE, 15, BEARE-STEVENSON CUTIS GYRATA SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, LONG QT SYNDROME 14, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OPSISMODYSPLASIA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LEGIUS SYNDROME, METACARPAL 4-5 FUSION, DEAFNESS, AUTOSOMAL RECESSIVE 89, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PAPILLORENAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, RETINITIS PIGMENTOSA 37, DUCHENNE MUSCULAR DYSTROPHY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, HARTSFIELD SYNDROME, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMMON VARIABLE IMMUNODEFICIENCY 1, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?DYSTONIA, JUVENILE-ONSET, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CARDIOMYOPATHY, DILATED, 1NN, MYOPIA 23, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, ELLIPTOCYTOSIS-2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, WAARDENBURG SYNDROME, TYPE 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, PANCREATIC CANCER/MELANOMA SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, NEUROFIBROMATOSIS, TYPE 1, ?FIBROMATOSIS, GINGIVAL, 1, CORNEAL DYSTROPHY, AVELLINO TYPE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, NOONAN SYNDROME 7, MICROPHTHALMIA, SYNDROMIC 6, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPHEROCYTOSIS, TYPE 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PSEUDOHYPOALDOSTERONISM, TYPE IIE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, QUEBEC PLATELET DISORDER, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MASA SYNDROME, CRASH SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LADD SYNDROME, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, BENT BONE DYSPLASIA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, SMITH-KINGSMORE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, EZH2, F2, PITX1, WNT5A, PRPF8, MYC, ACTB, CUL3, ACTN1, AGT, TGFBI, GFAP, ATP1A2, SNCA, CDH1, UBE2A, IL17RD, PLAU, B2M, FGF17, CDKN2A, HSPB1, FGF3, RAB7A, SPTAN1, SHOC2, PIK3CA, ACTN4, BMP4, PDGFRB, NRAS, NR2E3, IL2RG, CTNNB1, SF3B4, ERBB4, ACTA1, CSF2RB, RASA1, ERBB2, PLEC, ERBB3, MAP2K2, FGF9, PSMB8, IGF2, NOS3, SPTA1, MTOR, FGFR1, LEP, PIK3CD, JAK2, CBL, SMARCE1, CCND1, SPRED1, CD44, ITPR1, GLUD1, SPRY2, RB1, FGF23, BDNF, GRIN2A, RPS6KA3, FGF5, DUSP6, BRAF, INS, NFKB2, PAX3, NCF1, EDN1, GRIN2B, ITGB3, GJA1, IL2RA, ACE, SMAD4, VWF, SYNGAP1, PAX2, HLA-DRB1, DMD, PPP2R1A, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, INPPL1, VCP, RUNX1, TP53, EPS8, NEFL, IKBKB, HNRNPK, LRPAP1, FN1, CSNK1D, IL1B, UBQLN2, KCNQ2, EFNB1, AKAP9, NF1, FGFR3, MUSK, KIT, STAT3, RUNX2, LCK, RAF1, NGF, PRKCD, UBB, PPP2R5D, FBLN1, ACTG1, CSF1R, PIK3R2, NTRK1, PTPN11, SOS2, JAK3, ITGA2B, FGF10, TGFB1, SPRY4, SPTB, KITLG, PCNA, NOTCH1, PDGFB, SOS1, KARS, FGFR2, FGF16, IL6, CDKN1B, PHB, TNFAIP3, PDGFRA, L1CAM, LAMTOR2, APP, SPTBN2, HRAS, EGFR, ACTN2, NR0B2, HSPG2, ESR1, PIK3R1, KL, SERPINE1, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MACULAR DEGENERATION, EARLY-ONSET, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, CZECH DYSPLASIA, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?STICKLER SYNDROME, TYPE V, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, ECTOPIA LENTIS, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, ?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, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, MELNICK-NEEDLES SYNDROME, PORENCEPHALY 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA PRURIGINOSA, AMELOGENESIS IMPERFECTA, TYPE IIA2, RENAL TUBULAR DYSGENESIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MYOPATHY, DISTAL, 4, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, EHLERS-DANLOS SYNDROME, TYPE IV, LISSENCEPHALY 5, WAARDENBURG SYNDROME, TYPE 2D, ATRIAL SEPTAL DEFECT 6, FRONTOTEMPORAL DEMENTIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, PORENCEPHALY 1, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, AORTIC ANEURYSM, FAMILIAL THORACIC 9, PYCNODYSOSTOSIS, MULTIPLE SYNOSTOSES SYNDROME 1, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ACNE INVERSA, FAMILIAL, 3, ALZHEIMER DISEASE, TYPE 4, PEELING SKIN SYNDROME 4, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ADAMS-OLIVER SYNDROME 5, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, OSTEOGENESIS IMPERFECTA, TYPE IV, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, GLANZMANN THROMBASTHENIA, HYPERPROINSULINEMIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, RETICULATE ACROPIGMENTATION OF KITAMURA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, AMELOGENESIS IMPERFECTA, TYPE IA, BENIGN FAMILIAL HEMATURIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIDERMOLYSIS BULLOSA, PRETIBIAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, STICKLER SYNDROME, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, MYHRE SYNDROME, TARSAL-CARPAL COALITION SYNDROME, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ALPORT SYNDROME, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, COLE-CARPENTER SYNDROME 1, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, ?DEAFNESS, X-LINKED 6, KNOBLOCH SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MARFAN LIPODYSTROPHY SYNDROME, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, ACNE INVERSA, FAMILIAL, 1, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, HETEROTOPIA, PERIVENTRICULAR, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HYPOSPADIAS 1, X-LINKED, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, SPONDYLOPERIPHERAL DYSPLASIA, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, MACROCEPHALY/AUTISM SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, CAVITARY OPTIC DISC ANOMALIES, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, FRONTOMETAPHYSEAL DYSPLASIA, SPINOCEREBELLAR ATAXIA 17, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, FIBROCHONDROGENESIS 2, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BRACHYDACTYLY, TYPE B2, EPITHELIAL RECURRENT EROSION DYSTROPHY, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ERYTHROCYTOSIS, FAMILIAL, 2, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MYOPATHY, MYOFIBRILLAR, 5, GELEOPHYSIC DYSPLASIA 2, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, TRANSIENT BULLOUS OF THE NEWBORN, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, CARDIOMYOPATHY, DILATED, 1U, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, ACROMICRIC DYSPLASIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CUTIS LAXA, AD, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, CEROID LIPOFUSCINOSIS, NEURONAL, 10, NEPHROTIC SYNDROME, TYPE 12, DEAFNESS, AUTOSOMAL RECESSIVE 53, DEAFNESS, AUTOSOMAL DOMINANT 13, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, 46,XX SEX REVERSAL, TYPE 2, PICK DISEASE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, CEROID LIPOFUSCINOSIS, NEURONAL, 11, THROMBOCYTOPENIA 5, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MARSHALL SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PROTEUS SYNDROME, SOMATIC

KLKB1, LAMB1, WNT5A, COL1A1, PKD1, SERPINB6, COL3A1, F2, AGT, COL11A2, COL5A1, MMP19, CDH1, DDR2, SOX10, COL9A3, NOG, COL4A5, MMP1, COL10A1, BMP4, BMPER, SNAI2, COL4A2, DLL4, IGF1, CAPN3, COL13A1, COL2A1, CTSD, ERBB2, COL9A1, WNT7A, ACAN, FBLN5, ELN, VWF, COL8A2, AR, P4HB, GRN, NOTCH1, SPINT2, DAG1, COL6A1, LAMA1, PSEN1, COL9A2, NCSTN, CCND1, MMP13, IFNG, FBN2, SPARC, COL4A6, SOX9, IL6, STAT3, INS, ADAMTS18, COL7A1, CD44, APP, ITGB3, BMP1, CSTA, SMAD4, COL4A1, CTSK, ETV6, MMP20, CD40, PAX2, COL17A1, CD40LG, PSEN2, LAMA3, LAMB3, VHL, COL4A4, BMP2, AKT1, MMP2, ELANE, DVL1, COL18A1, TP53, EGFR, FBN1, HGF, NUP93, A2M, FN1, IL1B, PTEN, COL6A3, RUNX2, COL6A2, FLNA, NGF, COL25A1, FBLN1, LAMC2, AHSG, TGFB1, COL5A2, CXCR4, TBP, COL11A1, KITLG, PLG, DNMT1, COL4A3, DCN, FLNC, TLL1, ACTN1, MFAP5, COL1A2, LRP2, ACTN2, ADAM17, SMAD3, ADAM10, HSPG2, TUFM, PTPRF, SHH

COLE-CARPENTER SYNDROME 2, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, {PSORIASIS SUSCEPTIBILITY 1}, CHYLOMICRON RETENTION DISEASE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CRANIOLENTICULOSUTURAL DYSPLASIA, IMMUNODEFICIENCY 43, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}

HLA-C, B2M, TAP2, CALR, SEC24D, TAP1, HLA-B, TAPBP, SEC23A, SAR1B, BCAP31

LYSYL HYDROXYLASE 3 DEFICIENCY, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, BARAITSER-WINTER SYNDROME 1, FACTOR V DEFICIENCY, PROPERDIN DEFICIENCY, X-LINKED, CAMURATI-ENGELMANN DISEASE, {GLIOMA SUSCEPTIBILITY 9}, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ANEMIA, SIDEROBLASTIC, 4, MULTIPLE SULFATASE DEFICIENCY, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ?MYOFIBROMATOSIS, INFANTILE 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, GM1-GANGLIOSIDOSIS, TYPE II, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ECTOPIA LENTIS, FAMILIAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AMISH INFANTILE EPILEPSY 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, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, COENZYME Q10 DEFICIENCY, PRIMARY, 6, BLOOM SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MELNICK-NEEDLES SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, COLE-CARPENTER SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, COLE-CARPENTER SYNDROME 2, ?SPINOCEREBELLAR ATAXIA 26, WERNER SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {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}, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, DEAFNESS, AUTOSOMAL RECESSIVE 24, POROKERATOSIS 7, MULTIPLE TYPES, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OTOPALATODIGITAL SYNDROME, TYPE II, AORTIC ANEURYSM, FAMILIAL THORACIC 9, FRONTOMETAPHYSEAL DYSPLASIA, SALLA DISEASE, AGAMMAGLOBULINEMIA, X-LINKED 1, CORNEAL DYSTROPHY, CONGENITAL STROMAL, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, NEPHROTIC SYNDROME, TYPE 11, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, VON WILLEBRAND DISEASE, PLATELET-TYPE, IMMUNODEFICIENCY 43, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ECTOPIA LENTIS ET PUPILLAE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, NOONAN SYNDROME 4, ADAMS-OLIVER SYNDROME 5, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, IMMUNODEFICIENCY 23, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, BOHRING-OPITZ SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, ?FIBROMATOSIS, GINGIVAL, 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, C3 DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), BARAITSER-WINTER SYNDROME 2, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, AORTIC ANEURYSM, FAMILIAL THORACIC 8, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, CORNELIA DE LANGE SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, BLEEDING DISORDER, PLATELET-TYPE, 15, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, LONG QT SYNDROME 14, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, CHYLOMICRON RETENTION DISEASE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, EPIDERMAL NEVUS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FACTOR VII DEFICIENCY, COMMON VARIABLE IMMUNODEFICIENCY 1, PSEUDOHYPOPARATHYROIDISM IA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, STIFF SKIN SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, CHIME SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, KAHRIZI SYNDROME, WEAVER SYNDROME, BURKITT LYMPHOMA, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, RETINITIS PIGMENTOSA 59, HETEROTOPIA, PERIVENTRICULAR, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, KNOBLOCH SYNDROME 1, NESTOR-GUILLERMO PROGERIA SYNDROME, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, GM1-GANGLIOSIDOSIS, TYPE I, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MIRROR MOVEMENTS 2, OTOPALATODIGITAL SYNDROME, TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, XERODERMA PIGMENTOSUM, GROUP C, OSTEOGENESIS IMPERFECTA, TYPE II, BRACHYDACTYLY, TYPE E2, LI-FRAUMENI SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 6, COMPLEMENT FACTOR D DEFICIENCY, SPINOCEREBELLAR ATAXIA 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GLIOMA SUSCEPTIBILITY 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ALAGILLE SYNDROME, WIEDEMANN-STEINER SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, TYPE VIIC, MENTAL RETARDATION, X-LINKED 102, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HEMOPHILIA A, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, METACHROMATIC LEUKODYSTROPHY, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, PULMONARY HYPERTENSION, PRIMARY, 3, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CORNELIA DE LANGE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ?ATRIAL FIBRILLATION 15, INFANTILE MYOFIBROMATOSIS 1, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, WEILL-MARCHESANI-LIKE SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, PETERS-PLUS SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, POLYCYSTIC LIVER DISEASE, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, PANCREATIC CANCER/MELANOMA SYNDROME, HYPERPROINSULINEMIA, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), MARFAN LIPODYSTROPHY SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, HEMOPHILIA B, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, TREACHER COLLINS SYNDROME 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, DIAMOND-BLACKFAN ANEMIA 1, MYHRE SYNDROME, MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, PRADER-WILLI SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, ACROMICRIC DYSPLASIA, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, CONGENITAL DISORDER OF DEGLYCOSYLATION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, DYSAUTONOMIA, FAMILIAL, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, ?46XY SEX REVERSAL 5, NEPHROTIC SYNDROME, TYPE 12, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, GELEOPHYSIC DYSPLASIA 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IMMUNODEFICIENCY 36, EXOSTOSES, MULTIPLE, TYPE 2, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NONAKA MYOPATHY, ICHTHYOSIS, X-LINKED, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, APOE, RPL5, SEC23A, CAV1, PIGV, APOB, MYC, PIGW, RAD21, ACTB, GNAS, COL1A2, MSX1, EFTUD2, SLC35A1, F2, B3GLCT, ALG10, PMM2, MUC5B, MGAT2, NOTCH3, ALG3, PTHLH, ASXL1, CDH1, PROS1, SOX10, B2M, SLC17A5, ARSE, CDKN2A, ALG1, DPM2, NGLY1, PGAP1, DES, ALG2, MMP2, PIGL, ST3GAL5, RPS19, GFI1B, ATN1, SMAD4, PIGM, PIGG, RAD51, IKBKAP, RBPJ, PHC1, ERBB2, CALR, EIF2B2, GP1BA, ACAN, STT3A, PIGO, KRAS, ERBB3, CBL, EGFR, DPH1, F9, DPAGT1, P4HB, PIGT, NOS3, IL6, PROC, MTOR, PLOD3, MVD, COQ6, MOGS, ALG11, ACTN1, COL1A1, GFPT1, IFNG, ITGB2, ESR1, DHDDS, CCND1, MET, ADAMTS10, TAP1, AAAS, CD44, EP300, PRKG1, NUP107, ADAMTS2, SPRY2, ST3GAL3, ACTA2, STS, ALG6, SMC1A, ADAMTSL2, INS, MPDU1, SMC3, EZH2, ADAMTS18, MAN1B1, BANF1, POLR1C, DDX3X, CTNNB1, MUC1, IGF1, NUP62, VWF, GALNT3, STAT1, GMPPB, EEF2, NFKB2, ASCC1, COL4A1, BMP2, RDX, F10, BRCA1, C3, FN1, BIN1, AXIN1, CFTR, ATXN1, TP53, UBE3A, HLA-C, PGM3, NDN, HNRNPK, ADAMTS13, WRN, NUP93, A2M, AKT1, CSNK1D, JAG1, IL1B, ADAMTS17, HSPA9, ARSA, GNE, SEC24D, XRCC4, XPC, CFP, DDOST, BTK, ITGA6, F5, HRAS, STAT3, RUNX2, SUMF1, GLE1, PIGA, FLNA, NGF, PRKCD, CHEK2, MPI, FBLN1, ACTG1, DPM1, PRKCSH, TGFB1, RFT1, CENPE, ARSB, B4GALT1, NUP155, EXT2, F8, GLB1, NOTCH1, F7, TUSC3, SOS1, RANBP2, BLM, HERC2, CBX2, SRD5A3, NEU1, GMPPA, DCN, ADAMTSL4, FBN1, APP, POT1, CTCF, SERPINE1, MFAP5, DOLK, DNMT3B, GNRH1, SAR1B, RNF168, ADAM17, HSPG2, CFD, PDGFB, KDR, DHFR, ALG13, PIGN, PIK3R1

CORNEAL DYSTROPHY, LATTICE TYPE I, SUPRANUCLEAR PALSY, PROGRESSIVE, LONG QT SYNDROME 12, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 4A, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, ?STICKLER SYNDROME, TYPE V, XERODERMA PIGMENTOSUM, GROUP D, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, MIRROR MOVEMENTS 1, DUCHENNE MUSCULAR DYSTROPHY, SELECTIVE T-CELL DEFECT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, PULMONARY VENOOCCLUSIVE DISEASE 1, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, CARASIL SYNDROME, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, {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}, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, FRONTOTEMPORAL DEMENTIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MULTIPLE SYNOSTOSES SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, MUIR-TORRE SYNDROME, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, ALAGILLE SYNDROME 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MACULAR DYSTROPHY, RETINAL, 2, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, CORNELIA DE LANGE SYNDROME 1, BRUGADA SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, ADAMS-OLIVER SYNDROME 3, ATRIAL SEPTAL DEFECT 8, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, ATRIAL FIBRILLATION, FAMILIAL, 14, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, AORTIC ANEURYSM, FAMILIAL THORACIC 8, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, DEAFNESS, AUTOSOMAL RECESSIVE 36, BENIGN FAMILIAL HEMATURIA, IMMUNODEFICIENCY 44, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPLIT-HAND/FOOT MALFORMATION 6, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PARKINSON DISEASE 6, EARLY ONSET, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MYOPATHY, MYOFIBRILLAR, 5, NEUROFIBROMATOSIS, TYPE 1, ATRIAL FIBRILLATION, FAMILIAL, 6, BRACHYDACTYLY, TYPE A1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TIMOTHY SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NOONAN SYNDROME 4, HYPERPROINSULINEMIA, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, BRACHYDACTYLY, TYPE E2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, ATRIAL SEPTAL DEFECT 2, LEUKODYSTROPHY, HYPOMYELINATING, 6, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, SEIZURES, BENIGN NEONATAL, TYPE 2, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, ABLEPHARON-MACROSTOMIA SYNDROME, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, FRONTONASAL DYSPLASIA 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOPATHY, CENTRONUCLEAR, 3, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, MYASTHENIC SYNDROME, CONGENITAL, 16, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?DYSTONIA 23, NAIL-PATELLA SYNDROME, COLE-CARPENTER SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IA, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, PEROXISOME BIOGENESIS DISORDER 11B, BARBER-SAY SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MYOPATHY, DISTAL, TATEYAMA TYPE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, DEAFNESS, X-LINKED 2, PLASMA TRIGLYCERIDE LEVEL QTL, LOW, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, VENTRICULAR SEPTAL DEFECT 2, RENAL CYSTS AND DIABETES SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, IVIC SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ECTOPIA LENTIS ET PUPILLAE, SEGAWA SYNDROME, RECESSIVE, ROUSSY-LEVY SYNDROME, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, CURRARINO SYNDROME, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, 46,XX SEX REVERSAL, TYPE 2, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, HOLOPROSENCEPHALY-5, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, CARDIOMYOPATHY, DILATED, 1V, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, PANCREATIC AGENESIS 1, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, 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, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, CARNEY COMPLEX, TYPE 1, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, WATSON SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, VACTERL ASSOCIATION, X-LINKED, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MACHADO-JOSEPH DISEASE, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], LISSENCEPHALY 5, LEOPARD SYNDROME 3, SPHEROCYTOSIS, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, STORMORKEN SYNDROME, RETINITIS PIGMENTOSA 35, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, MIRROR MOVEMENTS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYXOMA, INTRACARDIAC, OSTEOGENESIS IMPERFECTA, TYPE XVII, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, CLEFT PALATE, ISOLATED, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, HEMOCHROMATOSIS, TYPE 2A, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIOMYOPATHY, DILATED, 1NN, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, HOLOPROSENCEPHALY-9, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ISCHIOCOXOPODOPATELLAR SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RETICULATE ACROPIGMENTATION OF KITAMURA, CARDIOMYOPATHY, DILATED, 1E, PANCREATIC AND CEREBELLAR AGENESIS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, SPHEROCYTOSIS, TYPE 2, LYMPHEDEMA, HEREDITARY, ID, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, VELOCARDIOFACIAL SYNDROME, NOONAN SYNDROME 9, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, ?RENAL HYPODYSPLASIA/APLASIA 2, PRIMARY PULMONARY HYPERTENSION, EPISODIC PAIN SYNDROME, FAMILIAL, 2, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?SPINOCEREBELLAR ATAXIA 41, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, TOOTH AGENESIS, SELECTIVE, 7, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, PSEUDOHYPOALDOSTERONISM, TYPE I, ACNE INVERSA, FAMILIAL, 1, STRIATONIGRAL DEGENERATION, INFANTILE, ARTHROGRYPOSIS, DISTAL, TYPE 8, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, OTOPALATODIGITAL SYNDROME, TYPE I, ALPHA-METHYLACETOACETIC ACIDURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, TARSAL-CARPAL COALITION SYNDROME, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, OPSISMODYSPLASIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, LEGIUS SYNDROME, METACARPAL 4-5 FUSION, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ADAMS-OLIVER SYNDROME 5, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, DYSTONIA 27, PALLISTER-HALL SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, HARTSFIELD SYNDROME, KNOBLOCH SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PICK DISEASE, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, VENTRICULAR SEPTAL DEFECT 3, {MELANOMA, CUTANEOUS MALIGNANT, 3}, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, COMMON VARIABLE IMMUNODEFICIENCY 1, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPONDYLOPERIPHERAL DYSPLASIA, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, APERT SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CAMURATI-ENGELMANN DISEASE, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 89, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, RETINITIS PIGMENTOSA 41, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, CARDIOMYOPATHY, HYPERTROPHIC, 11, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, CEREBELLOFACIODENTAL SYNDROME, FEBRILE SEIZURES, FAMILIAL, 3B, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 7, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, BRACHYDACTYLY, TYPE B2, EPITHELIAL RECURRENT EROSION DYSTROPHY, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, POROKERATOSIS 1, MULTIPLE TYPES, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, SECKEL SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, BRUGADA SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 16, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, PAPILLARY THYROID CARCINOMA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, AVASCULAR NECROSIS OF THE FEMORAL HEAD, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, HYPEREKPLEXIA HEREDITARY, ERYTHROCYTOSIS, FAMILIAL, 3, TUMOR PREDISPOSITION SYNDROME, CAPOS SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, TRANSPOSITION OF GREAT ARTERIES, DEXTRO-LOOPED 3, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, HYPERPARATHYROIDISM, NEONATAL, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, RETINITIS PIGMENTOSA 70, IMMUNODEFICIENCY 10, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, HERMANSKY-PUDLAK SYNDROME 7, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, MACULAR DYSTROPHY, PATTERNED, 2, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ECTOPIA LENTIS, FAMILIAL, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ?MENTAL RETARDATION, X-LINKED 100, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HETEROTAXY, VISCERAL, 5, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FECHTNER SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PORETTI-BOLTSHAUSER SYNDROME, ATRIAL SEPTAL DEFECT 9, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PARIETAL FORAMINA 2, DEJERINE-SOTTAS DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, LOEYS-DIETZ SYNDROME 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, IMMUNODEFICIENCY 43, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PRION DISEASE WITH PROTRACTED COURSE, TOENAIL DYSTROPHY, ISOLATED, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SPINOCEREBELLAR ATAXIA 21, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, PAROXYSMAL EXTREME PAIN DISORDER, ALPORT SYNDROME, AUTOSOMAL DOMINANT, CARDIOMYOPATHY, DILATED, 1HH, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OSTEOGENESIS IMPERFECTA, TYPE III, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, SPLENIC HYPOPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CENTRONUCLEAR MYOPATHY 5, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SICK SINUS SYNDROME 1, HAND-FOOT-UTERUS SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITT-HOPKINS SYNDROME, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, STIFF SKIN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, AXENFELD-RIEGER SYNDROME, TYPE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MENTAL RETARDATION, X-LINKED 19, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CHOROID PLEXUS PAPILLOMA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, CRANIOSYNOSTOSIS 3, EPISODIC ATAXIA, TYPE 6, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, ATRIAL SEPTAL DEFECT 5, MULTIPLE ENDOCRINE NEOPLASIA IIA, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, INFANTILE MYOFIBROMATOSIS 1, LEFT VENTRICULAR NONCOMPACTION 7, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, COFFIN-SIRIS SYNDROME 4, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, VISCERAL MYOPATHY, DEAFNESS, AUTOSOMAL RECESSIVE 35, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, BETHLEM MYOPATHY 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MEGALOCORNEA 1, X-LINKED, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, TANGIER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, TREACHER COLLINS SYNDROME 2, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, NASU-HAKOLA DISEASE, ?IMMUNODEFICIENCY 13, HOLOPROSENCEPHALY-7, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, KOSAKI OVERGROWTH SYNDROME, PARAMYOTONIA CONGENITA, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, AGAMMAGLOBULINEMIA 4, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, MAY-HEGGLIN ANOMALY, MARFAN LIPODYSTROPHY SYNDROME, PANCREATIC AGENESIS 2, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BRACHYDACTYLY, TYPE A1, D, SMED STRUDWICK TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, STICKLER SYNDROME, TYPE I, ?BLEEDING DISORDER, PLATELET-TYPE, 19, PORENCEPHALY 2, ATRIOVENTRICULAR SEPTAL DEFECT 5, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, FEINGOLD SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, OHDO SYNDROME, X-LINKED, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, MOHR-TRANEBJAERG SYNDROME, SPERMATOGENIC FAILURE 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, LONG QT SYNDROME-3, WAARDENBURG SYNDROME, TYPE 2D, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, SPINOCEREBELLAR ATAXIA 5, DIGEORGE SYNDROME, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, CZECH DYSPLASIA, IMMUNODEFICIENCY 21, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CULLER-JONES SYNDROME, GLUCOCORTICOID RESISTANCE, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, EPISODIC PAIN SYNDROME, FAMILIAL, 3, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, TUBULAR AGGREGATE, 1, ACNE INVERSA, FAMILIAL, 2, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, MENTAL RETARDATION, X-LINKED 99, ACNE INVERSA, FAMILIAL, 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DUANE-RADIAL RAY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, EPILEPSY, FAMILIAL TEMPORAL LOBE, 1, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SMITH-LEMLI-OPITZ SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HUNTINGTON DISEASE, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ATRIAL FIBRILLATION, FAMILIAL, 7, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, ATRIAL FIBRILLATION, FAMILIAL, 13, TATTON-BROWN-RAHMAN SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, PERRY SYNDROME, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, RUBINSTEIN-TAYBI SYNDROME, RIGHT ATRIAL ISOMERISM, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PYRUVATE KINASE DEFICIENCY, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LUJAN-FRYNS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, CATSHL SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, DYSTONIA-12, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SYNDACTYLY, TYPE V, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, SPLIT-HAND/FOOT MALFORMATION 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, HETEROTOPIA, PERIVENTRICULAR, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, CHOREA, HEREDITARY BENIGN, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, HUNTINGTON DISEASE-LIKE 1, WHIM SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, LI-FRAUMENI SYNDROME, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, RETINITIS PIGMENTOSA 13, ?MYOSCLEROSIS, CONGENITAL, GLIOMA SUSCEPTIBILITY 1, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, MYHRE SYNDROME, MACROCEPHALY/AUTISM SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, NEUROFIBROMATOSIS, TYPE 2, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PULMONARY HYPERTENSION, PRIMARY, 2, IMMUNODEFICIENCY 8, PCWH SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, CONE-ROD DYSTROPHY 10, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ELLIPTOCYTOSIS-2, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, LEUKOCYTE ADHESION DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, 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, THROMBOCYTOPENIA 4, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, UTERINE LEIOMYOMA, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, TIETZ ALBINISM-DEAFNESS SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MENTAL RETARDATION, X-LINKED 90, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MYOTONIC DYSTROPHY 2, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, CORNELIA DE LANGE SYNDROME 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ATRIAL FIBRILLATION, FAMILIAL, 10, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, LEUKEMIA, CHRONIC MYELOID, SOMATIC, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, HEMOCHROMATOSIS, TYPE 2B, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TCF12, CALM1, EZH2, LAMB1, FGFR1, HSPB1, SLC34A1, PKD1, CUL3, CIITA, GLI3, COL3A1, ATP6V1B1, SCN10A, PAFAH1B1, TRIP4, B2M, AKT2, NOG, EGR2, IL1B, RAB7A, ADRB2, TRIM32, NCF4, POR, ATN1, ACTC1, CREBBP, PTEN, NF2, SCN4A, F13A1, KL, APOA1, HAMP, COL6A2, P4HB, CD79A, GNAS, SCN2A, DAG1, GDNF, MTOR, LAMA1, BLK, LEP, CITED2, AIFM1, TUBB2B, NCSTN, CCND1, JAK2, AP2S1, SPARC, AP1S2, HNF4A, MIB1, CNTN5, VEGFC, T, GPD1, ADRB3, DUSP6, DNMT3A, TNC, ACVR1B, TBX1, CAV3, TUBG1, HFE2, CTNNB1, IL2RA, GRIN2A, HNF1B, AP4M1, SMAD4, TAF1, HDAC6, CTDP1, PITX2, PQBP1, NUP62, PPP2R1A, HES7, AKT1, INPPL1, AIP, SEMA4A, KCNA2, KCNQ3, DIAPH1, HNRNPK, HGF, TWIST1, CSNK1D, PEX13, EFNB1, RAF1, PAX4, IL17RD, PINK1, NOTCH1, PIK3R2, COL5A2, CXCR4, SOS2, GATA4, LRPAP1, SPRY4, STAT3, NKX2-1, PTPN11, SMARCA2, COL4A3, PAK3, ANK3, BDNF, CALR, TBP, CD36, EPS8, ATXN3, PDX1, POLR3B, PNPLA2, NR3C1, SPTB, PAX8, ACE, FGF5, WNT10B, CTNNA1, DNM2, KMT2A, MMP1, ACTB, SEMA3E, PIK3CA, PSEN1, GFAP, ASCC1, CDK4, UBE2A, UBB, COL6A1, MYO1E, COL4A5, SPTAN1, BMPER, CYCS, TGFBI, CDC73, GFI1B, CACNB4, EMD, MITF, PSENEN, CAPN3, IL2RG, RYR2, SF3B4, TGFBR2, COL9A1, ANGPTL4, SHOC2, BLMH, SCN11A, HOXB1, MAP2K2, NPPA, CYP7B1, NME1, ACTN1, IL12B, VWF, PKLR, MYCN, ERCC3, CBS, CORO1A, PITX1, MEF2C, NR2F2, HOXA13, CFL2, VCAN, FSHR, PRKACG, SPRED1, SOX9, PRKG1, BAP1, GDF1, SDC3, FGF23, GPHN, BRAF, DMD, MC4R, NCF1, STIM1, COL18A1, ALPL, ITGA8, BLNK, IGF1, TREM2, PLEC, RASA1, FLT4, SMAD9, MEF2A, CTCF, NFKB2, COL4A4, TNFAIP3, BMP2, EDNRB, SMC1A, SCN4B, SOX2, VDR, ASCL1, FIBP, ERBB3, TP53, EGFR, RB1CC1, LRP2, IKBKB, SCNN1G, SNCA, KCNQ2, AKAP9, NF1, KIF4A, ESRRB, TUBB4A, KIT, BCR, SCYL1, AGPAT2, USH2A, AR, DLG3, ZAP70, NODAL, PPP2R5D, PAX3, ACTG1, NR5A1, ITGB4, PIP5K1C, DVL1, SPEG, STAT1, APPL1, TSC1, TUBA4A, CACNA1C, IGF1R, NOS3, PLG, KARS, LGI1, ACTN4, IL6, PHB, DCN, ADAMTSL4, NEFL, MAPT, SMAD3, HSPG2, ESR1, DDX58, CFC1, SERPINE1, POU3F4, ATIC, PDE4D, F2, SPTA1, MED13L, IGBP1, EFTUD2, MAG, AGT, CDK5, UBQLN2, ESPN, CDH1, WNT5A, PLAU, FGF17, EGLN1, FGF3, SALL4, SIM1, MYC, COL10A1, CACNA1B, WNT1, JAG1, TBK1, GRID2, COL2A1, RBPJ, ERBB4, ACTA1, DNM1, GRIP1, SMARCA4, RUNX1, CBL, TWIST2, MYH14, SMARCE1, IGF2, NOTCH2, PTF1A, MYF6, CAD, GATA2, KIF5A, SCNN1A, CHRDL1, NTRK1, COL1A2, DCX, PLOD3, PSMB8, ITGA6, MET, NFKBIA, POLR1D, CD44, ERCC5, NR2F1, TNFRSF1A, SPRY2, GSC, IRF8, BIN1, PMVK, RPS6KA3, WAS, ALX4, INS, CDON, SCN2B, COL7A1, KCNA5, ITGB3, ACAT1, ITPR1, PITX3, PAX2, LMX1B, HLA-DRB1, YAP1, SYN1, CNTN1, SNTA1, VHL, USP9X, GRIN2B, RDX, BRCA1, ITGB2, PTHLH, FN1, TUBB3, TYROBP, FOXC2, MNX1, FBN1, DCTN1, IHH, SCN1A, ITGA2B, RHO, SYNGAP1, AQP2, FGFR3, FBLN1, SLC9A3R1, STAT2, SOX10, RBP4, SCN3B, NRAS, PRKCD, STUB1, DHCR7, CSF1R, STXBP1, MED25, JAK3, PRPF4, GFRA1, MYH9, FGF10, TGFB1, ERCC4, ACVR1, KITLG, TCF4, SOS1, SCN5A, FGF16, TIMM8A, ZHX2, FOXD3, GATA6, CACNA1S, LAMTOR2, APP, SEMA3A, HRAS, ACTN2, OCLN, HTRA1, BAG3, TINF2, PTPRF, CASK, PDGFB, DLL4, CAV1, STX1B, POLR1A, PRPF8, COL1A1, MPZ, CNBP, PABPN1, ROBO3, COL9A2, TUBB1, SLC1A3, PPARG, COL5A1, OTX2, PRKAR1A, NEUROG3, EIF2B2, BTK, COL6A3, CDKN2A, BMP4, CLASP1, MMP2, SCN8A, TFRC, SNAI2, ERCC2, PDGFRB, HOXD13, ARHGDIA, CNTNAP1, COL9A3, ERBB2, PTCH1, WNT7A, APOA2, KRAS, GLI2, PAX6, NKX2-5, CACNA1D, LHX3, MECOM, HS6ST1, AGRN, PROM1, HTT, ZIC3, COL4A2, TGFBR1, EP300, PSEN2, RAD51, PCBD1, PCNA, GLUD1, DTNBP1, PTPRC, LRP6, BMPR2, PLIN1, EDN1, RET, KCNJ11, CACNA1G, GJA1, CSF2RB, MYH3, COL4A1, ZIC2, COL17A1, SCN1B, CASR, MYOC, GCK, POLR2F, TH, CCND2, CNTN2, TUBB2A, PRKDC, MRPL3, PLK4, VCP, TRPC3, MED12, ATP1A3, MED17, MPDZ, TUBA1A, ITCH, DNMT3B, MUSK, FGF9, SHANK3, DLX5, RUNX2, SUMF1, LCK, FLNA, MYH11, NGF, BMPR1B, FLNC, PRNP, ATM, BRF1, TBX4, NFKB1, PRKACA, INSR, POMC, AKT3, SCN9A, MSH2, FGFR2, PLCG2, CDKN1B, PDGFRA, L1CAM, UNC119, SPTBN2, FGF20, DCC, FASLG, ANK1, IFT80, GNRH1, NR0B2, ADAM10, ATR, ANK2, PIK3R1, KDR, RYR1, SHH

?GLYCOGEN STORAGE DISEASE XV, GLYCOGEN STORAGE DISEASE IV, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, ?SPINOCEREBELLAR ATAXIA 26, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, GLYCOGEN STORAGE DISEASE X, POLYGLUCOSAN BODY DISEASE, ADULT FORM, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, CLEFT PALATE, ISOLATED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, GLYCOGEN STORAGE DISEASE VI, HYPERPROINSULINEMIA, POLYGLUCOSAN BODY MYOPATHY 2, GLYCOGEN STORAGE DISEASE II, HUNTINGTON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, FRUCTOSE INTOLERANCE, LONG QT SYNDROME 15, GLYCOGEN STORAGE DISEASE IXC, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?BLEEDING DISORDER, PLATELET-TYPE, 19, PYRUVATE KINASE DEFICIENCY, MUSCLE GLYCOGENOSIS, GLUCOCORTICOID RESISTANCE, MYHRE SYNDROME, MCARDLE DISEASE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 8, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, LONG QT SYNDROME 14, CITRULLINEMIA, ADULT-ONSET TYPE II, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, GLYCOGEN STORAGE DISEASE 0, MUSCLE, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, OPSISMODYSPLASIA, GLYCOGEN STORAGE DISEASE XII, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPOMYELINATION, GLOBAL CEREBRAL, GLYCOGEN STORAGE DISEASE VII, ?GLYCOGEN STORAGE DISEASE XIII, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4

CALM1, NCF1, TUBG1, ALDOA, AGL, GBE1, ALDOB, PHKB, PPP2R5D, SMAD4, PHKA2, SLC25A12, PGAM2, PYGL, PHKG2, PGK1, PKLR, GYS1, PYGM, EEF2, CORO1A, PRKACG, NHLRC1, PPP2R1A, PGM1, GYG1, SLC25A1, INPPL1, UBB, EPM2A, LIPE, HTT, FBP1, PFKM, ENO3, PHKA1, PRKACA, HK1, SLC25A13, NR3C1, TPI1, GAA, SPATA5, INS, PC, GCK

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ?STICKLER SYNDROME, TYPE V, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ECTOPIA LENTIS, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, 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, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, EPIDERMOLYSIS BULLOSA PRURIGINOSA, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PORENCEPHALY 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, TOENAIL DYSTROPHY, ISOLATED, CZECH DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE IV, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, VON WILLEBRAND DISEASE, TYPE 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSTONIA 27, EHLERS-DANLOS SYNDROME, TYPE 3, BENIGN FAMILIAL HEMATURIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, FUHRMANN SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIDERMOLYSIS BULLOSA, PRETIBIAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, BETHLEM MYOPATHY 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, SPLIT-HAND/FOOT MALFORMATION 1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 56, ?DEAFNESS, X-LINKED 6, KNOBLOCH SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, OSTEOGENESIS IMPERFECTA, TYPE II, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AVASCULAR NECROSIS OF THE FEMORAL HEAD, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL RECESSIVE 24, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, EHLERS-DANLOS SYNDROME, TYPE IV, ALPORT SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, GELEOPHYSIC DYSPLASIA 2, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, TRANSIENT BULLOUS OF THE NEWBORN, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PORENCEPHALY 2, GLANZMANN THROMBASTHENIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, RENAL ADYSPLASIA, {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}, ACROMICRIC DYSPLASIA, HYPOBETALIPOPROTEINEMIA, AMELOGENESIS IMPERFECTA, TYPE IH, MARFAN LIPODYSTROPHY SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PSEUDOACHONDROPLASIA, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, WEILL-MARCHESANI SYNDROME 2, DOMINANT, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

CD44, APOB, COL18A1, ITGB3, JAM3, ITGA8, WNT7A, COL1A1, DLX5, COL5A2, COL4A6, VWF, TGFB1, MMP2, COL3A1, ITGB6, F2, DAG1, COL6A1, LAMA1, COL4A4, COL7A1, RDX, NOS3, COL9A3, ITGB2, ITGA2B, FN1, AGRN, CALR, COL6A2, COL2A1, COL4A3, COMP, ITGA3, RUNX2, DCN, COL4A1, FBN1, COL10A1, KDR, COL1A2, COL5A1, CDH1, MFAP5, FASLG, ITGA7, GFI1B, COL4A2, COL9A2, COL8A2, HSPG2, COL13A1, COL9A1, ITGA6, COL6A3, TNC, COL4A5, ANXA5

CORNEAL DYSTROPHY, LATTICE TYPE I, MACULAR DEGENERATION, EARLY-ONSET, CAMURATI-ENGELMANN DISEASE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, MICROPHTHALMIA, SYNDROMIC 6, ECTOPIA LENTIS, FAMILIAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, WAARDENBURG SYNDROME, TYPE 2D, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LOEYS-DIETZ SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, LYMPHEDEMA, HEREDITARY, IA, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, BRACHYDACTYLY, TYPE C, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, ADAMS-OLIVER SYNDROME 5, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DU PAN SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, EHLERS-DANLOS SYNDROME, TYPE 3, BRACHYDACTYLY, TYPE A1, C, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE SYNOSTOSES SYNDROME 2, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, BURKITT LYMPHOMA, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, BRACHYDACTYLY, TYPE A1, D, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, CHONDRODYSPLASIA, GREBE TYPE, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, OSTEOGENESIS IMPERFECTA, TYPE II, ALAGILLE SYNDROME, DENTAL ANOMALIES AND SHORT STATURE, BRACHYDACTYLY, TYPE A2, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 17, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, IMAGE SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, QUEBEC PLATELET DISORDER, AMELOGENESIS IMPERFECTA, TYPE IH, MARFAN LIPODYSTROPHY SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4

GDF5, ACAN, ITGA8, MYC, FBLN1, FLT4, TGFB1, NOTCH1, ITGB6, TGFB3, TGFB2, AGT, TGFBI, SNAI2, COL1A1, LEMD3, LTBP2, ATN1, CDH1, BMP2, FBLN5, CCND1, NR0B1, EGFR, DCN, FBN1, ELN, TGFBR1, COL1A2, LOXL1, FBN2, UBQLN2, BMP4, LTBP4, CDKN1C, BMPER, JAG1, GFI1B, RUNX2, SMAD4, LTBP3, BMPR1B, ACVR1, ITGB3, EFEMP2, KDR, MFAP5, IGF1, FN1, TGFBR2, PLAU

RETINITIS PIGMENTOSA-40, HYPER-IGE RECURRENT INFECTION SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), JOUBERT SYNDROME 9, NEPHRONOPHTHISIS 18, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, DYSAUTONOMIA, FAMILIAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MANDIBULOACRAL DYSPLASIA, CARDIOMYOPATHY, DILATED, 1E, RENAL TUBULAR DYSGENESIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, BRUGADA SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, HYPERCHLORHIDROSIS, ISOLATED, ?SECKEL SYNDROME 4, JOUBERT SYNDROME 6, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, PEUTZ-JEGHERS SYNDROME, ?OPTIC ATROPHY 9, CATARACT 16, MULTIPLE TYPES, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, JOUBERT SYNDROME 15, LONG QT SYNDROME 15, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MYOPATHY, MYOFIBRILLAR, 5, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, JOUBERT SYNDROME 24, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, KLEEFSTRA SYNDROME, ?JOUBERT SYNDROME 22, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, HYPOSPADIAS 1, X-LINKED, LEUKODYSTROPHY, HYPOMYELINATING, 6, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, NICOLAIDES-BARAITSER SYNDROME, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, BARDET-BIEDL SYNDROME 17, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, RETINITIS PIGMENTOSA 45, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, LEUKODYSTROPHY, HYPOMYELINATING, 10, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, JOUBERT SYNDROME 13, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, ?CRANIOECTODERMAL DYSPLASIA 4, SPINOCEREBELLAR ATAXIA 11, CHEDIAK-HIGASHI SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ANEMIA, SIDEROBLASTIC, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, ?RETINITIS PIGMENTOSA 67, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?SECKEL SYNDROME 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, MECKEL SYNDROME 2, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ?SPINOCEREBELLAR ATAXIA 26, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SPHEROCYTOSIS, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, RETINITIS PIGMENTOSA 58, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, OROFACIODIGITAL SYNDROME IV, ATAXIA-TELANGIECTASIA, ?PERRAULT SYNDROME 2, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, NOONAN SYNDROME 9, EPISODIC PAIN SYNDROME, FAMILIAL, 2, JOUBERT SYNDROME 5, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, MALOUF SYNDROME, EPIDERMAL NEVUS, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, JOUBERT SYNDROME 10, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, COACH SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, QUESTION MARK EARS, ISOLATED, EVEN-PLUS SYNDROME, ?MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE, MECKEL SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, RUBINSTEIN-TAYBI SYNDROME 2, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, MECKEL SYNDROME 7, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MECKEL SYNDROME 3, ?MYASTHENIC SYNDROME, CONGENITAL, 18, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, DEAFNESS, AUTOSOMAL RECESSIVE 89, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, MACULAR DEGENERATION, X-LINKED ATROPHIC, BARDET-BIEDL SYNDROME 5, HYPERPROINSULINEMIA, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, RETINITIS PIGMENTOSA 11, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, NEPHRONOPHTHISIS 11, ?RETINITIS PIGMENTOSA 51, SENIOR-LOKEN SYNDROME 9, HEART-HAND SYNDROME, SLOVENIAN TYPE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, ACROKERATOSIS VERRUCIFORMIS, HERMANSKY-PUDLAK SYNDROME 7, BARDET-BIEDL SYNDROME 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, SENIOR-LOKEN SYNDROME 4, MENTAL RETARDATION, X-LINKED 102, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, RETINITIS PIGMENTOSA 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), DARIER DISEASE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ?BARDET-BIEDL SYNDROME 19, SENIOR-LOKEN SYNDROME 5, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, NEPHRONOPHTHISIS 2, INFANTILE, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, NEPHRONOPHTHISIS 12, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, BARDET-BIEDL SYNDROME 7, MECKEL SYNDROME 10, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, DIAMOND-BLACKFAN ANEMIA 6, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, SICK SINUS SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MECKEL SYNDROME 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, SENIOR-LOKEN SYNDROME 6, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CHOROID PLEXUS PAPILLOMA, CRANIOECTODERMAL DYSPLASIA 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, NEPHRONOPHTHISIS 3, COFFIN-SIRIS SYNDROME 4, ?DYSTONIA, JUVENILE-ONSET, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, MYOTONIC DYSTROPHY 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, JOUBERT SYNDROME 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, [PREMATURE CHROMATID SEPARATION TRAIT], NEPHRONOPHTHISIS 15, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MCKUSICK-KAUFMAN SYNDROME, BARDET-BIEDL SYNDROME 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MYHRE SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), OROFACIODIGITAL SYNDROME I, ?MECKEL SYNDROME 8, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PALLISTER-HALL SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, LONG QT SYNDROME-3, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RETINITIS PIGMENTOSA 71, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, RITSCHER-SCHINZEL SYNDROME 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ALSTROM SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, ?OROFACIODIGITAL SYNDROME XIV, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, BARDET-BIEDL SYNDROME 6, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SENIOR-LOKEN SYNDROME 8, BARDET-BIEDL SYNDROME 3, SPINOCEREBELLAR ATAXIA 28, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, AURICULOCONDYLAR SYNDROME 3, RUBINSTEIN-TAYBI SYNDROME, BARDET-BIEDL SYNDROME 16, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, BARDET-BIEDL SYNDROME 8, BARDET-BIEDL SYNDROME 4, PERRY SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, ?MECKEL SYNDROME 9, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, JOUBERT SYNDROME 2, CITRULLINEMIA, ADULT-ONSET TYPE II, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), ACHONDROGENESIS, TYPE IA, ?MICROHYDRANENCEPHALY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, NEPHRONOPHTHISIS 13, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, MENTAL RETARDATION, X-LINKED 41, SENIOR-LOKEN SYNDROME-1, ?BARDET-BIEDL SYNDROME 18, IMMUNODEFICIENCY 33, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BARDET-BIEDL SYNDROME 12, LI-FRAUMENI SYNDROME, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SECKEL SYNDROME 5, RESTRICTIVE DERMOPATHY, LETHAL, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, CRANIOECTODERMAL DYSPLASIA 3, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, JOUBERT SYNDROME 8, PERRAULT SYNDROME 5, BARDET-BIEDL SYNDROME 13, IMMUNODEFICIENCY 8, {PARKINSON DISEASE 18}, JOUBERT SYNDROME 7, NEPHRONOPHTHISIS 4, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, CRANIOECTODERMAL DYSPLASIA 2, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, RETINITIS PIGMENTOSA 74, GRISCELLI SYNDROME, TYPE 1, PANCREATIC CANCER/MELANOMA SYNDROME, MECKEL SYNDROME 5, ANDROGEN INSENSITIVITY, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, THROMBOCYTOPENIA 4, ?RETINITIS PIGMENTOSA 23, JOUBERT SYNDROME 18, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, BARDET-BIEDL SYNDROME 9, DIAMOND-BLACKFAN ANEMIA 7, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ATRIAL FIBRILLATION, FAMILIAL, 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

CALM1, MPDZ, TMEM216, EDNRA, PAFAH1B1, TCTN3, LMNA, PRPF31, LZTFL1, TUBA4A, ACTB, FAS, NEK2, IKBKG, CNGB1, ANK2, RPL5, TUBB1, DDX3X, MYO5A, PPARG, CTNNB1, AGTR1, CCT5, CSNK1D, UBA1, NPHP4, EDN1, PKD1, KISS1R, STK11, CDKN2A, BBIP1, DST, NDRG1, PDE6D, TRIP11, CDK5RAP2, MYC, SMARCA4, NOP56, CYCS, TTC8, GFI1B, AFG3L2, ERBB2, MKS1, CREBBP, CYC1, PRKAG2, EIF4G1, IKBKAP, RBPJ, SPAST, VRK1, RASA1, CC2D2A, WDR34, PLEC, TP53, TUBB2B, TUBA1A, CEP135, TBK1, AR, BBS10, MRPS22, PIGT, NOS3, PAXIP1, SMARCB1, MRPL44, BUB1B, BBS9, CORO1A, KIF5A, MEF2C, LEP, SDCCAG8, IFT80, GFM1, GFPT1, CEP152, B9D2, NR1I3, CRYAB, NFKBIA, EFTUD2, SUCLA2, SLC25A13, C2CD3, CCDC22, EP300, MKKS, HSPD1, DYNC2H1, TUBGCP4, ARL6, RB1, BBS2, HCFC1, STAT3, IQCB1, AHI1, PDE6B, INS, SNAP25, BBS1, CEP83, ACO2, GDI1, BBS12, APP, LYST, TRAF3IP1, SMARCA2, TTC21B, GLI3, INPP5E, CEP41, SMAD4, TTBK2, MRPS16, CEP290, ZNF513, HDAC6, EEF2, CTDP1, DMD, NFKB1, VHL, CEP164, PPP2R1A, TUBB, PYCR2, HRAS, PLK4, TCTN1, AKT1, AKAP9, NDE1, TUBB2A, NPHP3, BRCA1, MRPL3, SCN10A, DTNBP1, KARS, NPHS1, TMEM67, HARS2, DCTN1, TSG101, ARL6IP1, TCTN2, RPGRIP1L, RHO, RP2, IFT140, HSPA9, WDR19, TUBB3, STXBP1, TSFM, ALMS1, POMC, POLG2, AXIN1, TUBB4A, DYNC1H1, CENPJ, AGPAT2, IFT122, BBS5, DLG3, INVS, MTFMT, BBS7, TUBG1, ATR, FLNC, B9D1, NPHP1, MED25, SCN5A, FTH1, IFT27, CASK, IFT43, GLUD1, PRKACA, IFT172, PCNT, CEP57, UQCRC2, PPARGC1B, ATM, RPGR, ACTN4, WDR60, CA12, RPL11, THRA, OFD1, CNBP, BBS4, CLASP1, GRIN2B, SLC9A3R1, MEF2A, SMC3, POLR2F, POLG, ANK1, ACTN2, ARL13B, POLR3B, SMAD3, ATP2A2, ANK3, EXOC8, ESR1, SOS2, C10orf2, CEP63, TUFM, WDR35, ATIC

BARAITSER-WINTER SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 5, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, TYPE 3, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, LONG QT SYNDROME 15, ?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, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, CLEFT PALATE, ISOLATED, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TREACHER COLLINS SYNDROME 2, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, LEOPARD SYNDROME 3, ALEXANDER DISEASE, CAMURATI-ENGELMANN DISEASE, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TRIGONOCEPHALY 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, VON WILLEBRAND DISEASE, TYPE 1, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, GLIOMA SUSCEPTIBILITY 1, ?MULTIPLE SYNOSTOSES SYNDROME 3, AMYOTROPHIC LATERAL SCLEROSIS 19, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, LIEBENBERG SYNDROME, SPINOCEREBELLAR ATAXIA 15, ?IMMUNODEFICIENCY 22, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MACROCEPHALY/AUTISM SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ENDOCRINE-CEREBROOSTEODYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, PARKINSON DISEASE 1, CATSHL SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, BLEEDING DISORDER, PLATELET-TYPE, 15, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, LONG QT SYNDROME 14, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, LEFT VENTRICULAR NONCOMPACTION 7, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, MYOPATHY, MYOFIBRILLAR, 5, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, METACARPAL 4-5 FUSION, DEAFNESS, AUTOSOMAL RECESSIVE 89, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, IMMUNODEFICIENCY 36, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PAPILLORENAL SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, DUCHENNE MUSCULAR DYSTROPHY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, HARTSFIELD SYNDROME, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, HYPOCHONDROPLASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, KAPPA LIGHT CHAIN DEFICIENCY, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMMON VARIABLE IMMUNODEFICIENCY 1, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CARDIOMYOPATHY, DILATED, 1NN, MYOPIA 23, AUTOSOMAL RECESSIVE, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, ELLIPTOCYTOSIS-2, QUEBEC PLATELET DISORDER, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, MUENKE SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, {PARKINSON DISEASE 18}, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, TUBEROUS SCLEROSIS 2, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, RETINITIS PIGMENTOSA 13, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, WAARDENBURG SYNDROME, TYPE 3, 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, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, PANCREATIC CANCER/MELANOMA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?FIBROMATOSIS, GINGIVAL, 1, CORNEAL DYSTROPHY, AVELLINO TYPE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NOONAN SYNDROME 7, MICROPHTHALMIA, SYNDROMIC 6, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPHEROCYTOSIS, TYPE 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PSEUDOHYPOALDOSTERONISM, TYPE IIE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BENT BONE DYSPLASIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MASA SYNDROME, CRASH SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LADD SYNDROME, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, SMITH-KINGSMORE SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PREMATURE AGING SYNDROME, PENTTINEN TYPE, BARAITSER-WINTER SYNDROME 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, EZH2, F2, PITX1, SPTA1, PRPF8, MYC, LAMTOR2, PRKACA, ACTB, CUL3, ACTN1, AGT, TGFBI, IGKC, PPARG, ATP1A2, SNCA, CDH1, UBE2A, IL17RD, HNRNPK, PLAU, UBB, STK11, FGF17, CDKN2A, VARS2, FGF3, NF1, RAB7A, SPTAN1, SHOC2, PIK3CA, ACTN4, BMP4, CDC73, ERBB2, PRKAG2, SOX2, IL2RG, SF3B4, RAF1, ACTA1, CSF2RB, RASA1, PLEC, RUNX1, MAP2K2, FGF9, PSMB8, IGF2, SQSTM1, NOS3, SKIV2L, FGFR1, LEP, AKT2, JAK2, EIF4G1, CBL, GFAP, SMARCE1, CCND1, SPRED1, ICK, POLR1D, MIB1, HSPB1, ITPR1, GLUD1, SPRY2, FGF23, BDNF, GRIN2A, RPS6KA3, FGF5, DUSP6, BRAF, INS, NFKB2, PAX3, NCF1, EDN1, CD44, ITGB3, GJA1, IL2RA, ACE, SMAD4, VWF, SPTBN2, PAX2, HLA-DRB1, HDAC6, PDGFRB, DMD, PPP2R1A, GRIN2B, HES7, FOXP3, FGF20, PLK4, AKT1, CCND2, KRAS, VCP, ERBB3, KARS, EPS8, NEFL, IKBKB, PPP2R5D, LRPAP1, FN1, CSNK1D, ERBB4, UBQLN2, KCNQ2, EFNB1, AKAP9, PTEN, FGFR3, MUSK, TSC1, KIT, STAT3, RUNX2, LCK, NRAS, NGF, PRKCD, STUB1, FBLN1, ACTG1, CSF1R, FLNC, PIK3R2, NTRK1, PTPN11, SOS2, JAK3, ITGA2B, FGF10, TGFB1, SPRY4, SPTB, KITLG, PCNA, INSR, NOTCH1, PDGFB, SOS1, TP53, FGFR2, FGF16, IL6, CDKN1B, PHB, TNFAIP3, PDGFRA, L1CAM, STRADA, APP, SYNGAP1, HRAS, EGFR, ACTN2, NR0B2, HSPG2, ESR1, PIK3R1, KL, SERPINE1, MTOR, SHH

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, SUPRANUCLEAR PALSY, PROGRESSIVE, ANDERSEN SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, EPISODIC ATAXIA, TYPE 5, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ?LICHTENSTEIN-KNORR SYNDROME, RETINAL CONE DYSTROPHY 3B, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FRASER SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, EPILEPSY, PROGRESSIVE MYOCLONIC 7, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, SHORT SYNDROME, LONG QT SYNDROME 13, MIRROR MOVEMENTS 1, SENIOR-LOKEN SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, PARKINSON DISEASE 1, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, SPINOCEREBELLAR ATAXIA 14, LONG QT SYNDROME 15, ZIMMERMANN-LABAND SYNDROME 1, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, CAMURATI-ENGELMANN DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ATRIAL FIBRILLATION, FAMILIAL, 9, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, LEOPARD SYNDROME 3, FRONTOTEMPORAL DEMENTIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OTOPALATODIGITAL SYNDROME, TYPE II, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, EPISODIC ATAXIA/MYOKYMIA SYNDROME, EPISODIC ATAXIA, TYPE 2, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, PSEUDOHYPOPARATHYROIDISM IA, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, GLUTAMINE DEFICIENCY, CONGENITAL, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ATRIAL FIBRILLATION, FAMILIAL, 3, HUNTINGTON DISEASE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, TIMOTHY SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 7, OSTEOGENESIS IMPERFECTA, TYPE IV, BARTTER SYNDROME, TYPE 2, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HYPERPROINSULINEMIA, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ANDROGEN INSENSITIVITY, AORTIC ANEURYSM, FAMILIAL THORACIC 8, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, PARKINSONISM-DYSTONIA, INFANTILE, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, BRUNNER SYNDROME, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, TEMPLE-BARAITSER SYNDROME, PRIMARY PULMONARY HYPERTENSION, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, BLEEDING DISORDER, PLATELET-TYPE, 15, OSSEOUS HETEROPLASIA, PROGRESSIVE, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, 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, BURKITT LYMPHOMA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SPINOCEREBELLAR ATAXIA 6, EPIDERMAL NEVUS, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, DEAFNESS, AUTOSOMAL RECESSIVE 30, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, SPINOCEREBELLAR ATAXIA 13, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, {BLEPHAROSPASM, PRIMARY BENIGN}, KEPPEN-LUBINSKY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, SEIZURES, BENIGN NEONATAL, TYPE 2, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, PARKINSON DISEASE 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, DEAFNESS, AUTOSOMAL DOMINANT 2A, SHORT QT SYNDROME 2, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, HETEROTOPIA, PERIVENTRICULAR, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, NOONAN SYNDROME 4, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, ATAXIA-TELANGIECTASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, OTOPALATODIGITAL SYNDROME, TYPE I, LEFT VENTRICULAR NONCOMPACTION 7, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, OSTEOGENESIS IMPERFECTA, TYPE II, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, JERVELL AND LANGE-NIELSEN SYNDROME 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPOSPADIAS 1, X-LINKED, LONG QT SYNDROME 12, GLIOMA SUSCEPTIBILITY 1, SPINOCEREBELLAR ATAXIA 19, AURICULOCONDYLAR SYNDROME 1, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CLOVE SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, PULMONARY HYPERTENSION, PRIMARY, 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, EPISODIC ATAXIA, TYPE 6, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPOKALEMIC PERIODIC PARALYSIS 1, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, BECKER MUSCULAR DYSTROPHY, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, FRONTOMETAPHYSEAL DYSPLASIA, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, GABA-TRANSAMINASE DEFICIENCY, CARDIOMYOPATHY, DILATED, 1NN, ALAGILLE SYNDROME 2, VOHWINKEL SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ATRIAL FIBRILLATION, FAMILIAL, 12, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, IMMUNODEFICIENCY 11, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, ?DYSTONIA 23, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GALACTOSE EPIMERASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SESAME SYNDROME, LISSENCEPHALY 5, RIPPLING MUSCLE DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, SICK SINUS SYNDROME 2, ESCOBAR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, JOUBERT SYNDROME 5, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SEGAWA SYNDROME, RECESSIVE, PAPILLARY THYROID CARCINOMA, PAGET DISEASE OF BONE 3, LEUKEMIA, CHRONIC MYELOID, SOMATIC, MYOCLONIC-ATONIC EPILEPSY, DEAFNESS, AUTOSOMAL RECESSIVE 37, NOONAN SYNDROME 7, BRUGADA SYNDROME 9, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, HYPEREKPLEXIA HEREDITARY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, SPINOCEREBELLAR ATAXIA 42, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, DEJERINE-SOTTAS DISEASE, IMMUNODEFICIENCY 36, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, CARDIOMYOPATHY, DILATED, 1U, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CHRNA4, LAMB1, STX1B, NCF1, MYC, KCNJ6, CHRNG, SQSTM1, PIK3CA, PSEN1, MAPT, AP2S1, ACTN2, KRIT1, AGT, GNAI3, ARHGEF9, SLC6A3, CSNK1D, EDN1, KCNH2, CTNNB1, RYR2, MYO3A, KCNA1, TGFBR1, SPTAN1, COL1A1, CACNA1B, PRKCG, CACNB4, ERBB2, ADCY6, PRKACG, MYO6, MAOA, KIF1A, STXBP1, SOX9, KCNH1, GRIP1, DRD2, ERBB3, COPA, GABRA1, PEX5, CHRNA2, DNAJC5, GNAS, NOTCH2, GLUL, KCNJ1, DAG1, CACNA1D, ADCY1, ACTN1, ABAT, KCND3, ALDH2, SLC9A1, KIF5C, CBL, CHRND, CCND1, KCNV2, KLC2, SUCLA2, HTT, MIB1, ITPR1, PRKG1, CACNA1A, GJB1, HCN1, CASR, GAD1, ALDH5A1, GNB4, STX11, RPS6KA3, GPHN, ADCY5, BRAF, INS, SNAP25, KCNC1, SNTA1, MT-CO1, KCNA5, CAV3, FLNC, KCNJ11, CACNA1G, PPARG, GJA1, KCNN4, LDHA, MEF2A, CEP290, KCNMB1, FLNA, SYN1, KCNB1, DMD, KCNJ5, PPP2R1A, GRIN2B, CHRNA1, KCNQ4, MTOR, NR3C1, AKT1, AKAP9, KCNMA1, GALE, KCNA2, POLR2F, PRKCD, TP53, SEC63, EPS8, NEFL, RAF1, GJB2, LRPAP1, ITGA7, RHO, KCNQ2, ERBB4, MUSK, POMC, TH, KCNC3, SLC5A7, GABRG2, HRAS, BCR, GRIN2A, AR, DLG3, KCNQ1, NGF, KCNQ3, HCCS, CHRNE, GRIK2, KCNJ10, TGFB1, AP4M1, ATM, GNAL, CFTR, CASK, PLCB1, ANK2, PRKACA, CACNA1C, CARD11, SOS1, PITX2, DRD5, ADRB2, ABCC9, CACNA1S, KCNK3, BDNF, APP, CHAT, KCNJ2, ABCC8, SLC6A1, DCC, EGFR, SNCA, SORT1, GNRH1, SLC1A3, STX16, ALB, ESR1, CAST, HCN4, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, FRASER SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, LONG QT SYNDROME 13, SENIOR-LOKEN SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLUCOCORTICOID RESISTANCE, MYOPIA 23, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA 14, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ATRIAL FIBRILLATION, FAMILIAL, 9, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, LEOPARD SYNDROME 3, FRONTOTEMPORAL DEMENTIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, PSEUDOHYPOPARATHYROIDISM IA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, COFFIN-LOWRY SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, JOUBERT SYNDROME 5, BLEEDING DISORDER, PLATELET-TYPE, 15, OSSEOUS HETEROPLASIA, PROGRESSIVE, GLIOMA SUSCEPTIBILITY 1, LONG QT SYNDROME 14, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, EPIDERMAL NEVUS, LONG QT SYNDROME 15, MYOPATHY, DISTAL, TATEYAMA TYPE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {BLEPHAROSPASM, PRIMARY BENIGN}, KEPPEN-LUBINSKY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TIMOTHY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, DEAFNESS, AUTOSOMAL RECESSIVE 30, DUCHENNE MUSCULAR DYSTROPHY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARDIOMYOPATHY, DILATED, 1NN, AURICULOCONDYLAR SYNDROME 1, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, DYSTONIA 25, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, ESCOBAR SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PAPILLARY THYROID CARCINOMA, PAGET DISEASE OF BONE 3, LEUKEMIA, CHRONIC MYELOID, SOMATIC, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, DEAFNESS, AUTOSOMAL RECESSIVE 37, NOONAN SYNDROME 7, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, IMMUNODEFICIENCY 36, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, CARDIOMYOPATHY, DILATED, 1U, SMITH-KINGSMORE SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC

CALM1, CAV3, KCNJ5, ERBB2, DLG3, SQSTM1, GNAI3, NGF, GJA1, ERBB3, GNB4, GABRA1, CHRND, CEP290, CHRNG, NR3C1, DRD2, PIK3R2, KCNMA1, PSEN1, ATM, CACNA1C, AP2S1, DRD5, CASR, GRIN2B, DMD, GRIP1, PLCB1, ESR1, KCNJ10, ARHGEF9, CHRNE, CHRNA1, AP4M1, MTOR, AKT1, AKAP9, CTNNB1, RHO, CBL, KCNJ6, GRIN2A, PRKACG, MYO3A, PRKCD, ADRB2, MYO6, NEFL, TGFBR1, GNAS, RAF1, CHRNA4, MYC, LRPAP1, ITPR1, GRIK2, MEF2A, ACTN1, KCNJ2, HRAS, GNAL, ERBB4, EGFR, ACTN2, DAG1, PRKCG, PRKACA, GNRH1, MUSK, CHRNA2, ADCY6, RPS6KA3, BRAF, GPHN, ADCY1, ADCY5, GABRG2, BCR, CASK, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, SUPRANUCLEAR PALSY, PROGRESSIVE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, LONG QT SYNDROME 12, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, FRASER SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, LONG QT SYNDROME 13, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PARKINSON DISEASE 1, MYOPIA 23, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA 14, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ATRIAL FIBRILLATION, FAMILIAL, 9, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, LEOPARD SYNDROME 3, ?DYSTONIA 23, FRONTOTEMPORAL DEMENTIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EPISODIC ATAXIA, TYPE 2, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, PSEUDOPSEUDOHYPOPARATHYROIDISM, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, PSEUDOHYPOPARATHYROIDISM IA, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, GLUTAMINE DEFICIENCY, CONGENITAL, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, HUNTINGTON DISEASE, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CARDIOMYOPATHY, DILATED, 1NN, TIMOTHY SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, IMMUNODEFICIENCY 36, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, PARKINSONISM-DYSTONIA, INFANTILE, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, BRUNNER SYNDROME, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, JOUBERT SYNDROME 5, BLEEDING DISORDER, PLATELET-TYPE, 15, OSSEOUS HETEROPLASIA, PROGRESSIVE, GLIOMA SUSCEPTIBILITY 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, 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, BURKITT LYMPHOMA, LONG QT SYNDROME 15, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, AXENFELD-RIEGER SYNDROME, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SPINOCEREBELLAR ATAXIA 6, EPIDERMAL NEVUS, SENIOR-LOKEN SYNDROME 6, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {BLEPHAROSPASM, PRIMARY BENIGN}, KEPPEN-LUBINSKY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, 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, PARKINSON DISEASE 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, ATAXIA-TELANGIECTASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, LEFT VENTRICULAR NONCOMPACTION 7, DEAFNESS, AUTOSOMAL RECESSIVE 30, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, AURICULOCONDYLAR SYNDROME 1, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, CLOVE SYNDROME, SOMATIC, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, EPISODIC ATAXIA, TYPE 6, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, MYOCLONIC-ATONIC EPILEPSY, BECKER MUSCULAR DYSTROPHY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, ALAGILLE SYNDROME 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, IMMUNODEFICIENCY 11, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GALACTOSE EPIMERASE DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GABA-TRANSAMINASE DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, LISSENCEPHALY 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, ESCOBAR SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PAPILLARY THYROID CARCINOMA, PAGET DISEASE OF BONE 3, LEUKEMIA, CHRONIC MYELOID, SOMATIC, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, DEAFNESS, AUTOSOMAL RECESSIVE 37, NOONAN SYNDROME 7, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, EPISODIC ATAXIA, TYPE 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, SPINOCEREBELLAR ATAXIA 42, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LOEYS-DIETZ SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, CARDIOMYOPATHY, DILATED, 1U, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CHRNA4, LAMB1, PLCB1, NCF1, MYC, KCNJ6, CHRNG, SQSTM1, PIK3CA, PSEN1, AP2S1, SLC1A3, AGT, GNAI3, ARHGEF9, SLC6A3, RHO, ALB, EDN1, CTNNB1, MYO3A, ERBB4, CSNK1D, ADRB2, CACNA1B, CACNB4, ERBB2, ADCY6, PRKACG, MAOA, KIF1A, RAF1, GRIP1, DRD2, ERBB3, COPA, GABRA1, CHRNA2, DNAJC5, GNAS, NOTCH2, GLUL, DAG1, CACNA1D, ADCY1, ACTN1, ABAT, CBL, CHRND, HTT, MIB1, ITPR1, CACNA1A, MYO6, CASR, GAD1, ALDH5A1, GNB4, RPS6KA3, GPHN, ADCY5, BRAF, SNAP25, ALDH2, CAV3, TGFBR1, CACNA1G, PPARG, GJA1, MEF2A, CEP290, KLC2, SYN1, DMD, KCNJ5, PPP2R1A, GRIN2B, CHRNA1, HRAS, AKT1, AKAP9, KCNMA1, GALE, CFTR, TP53, EGFR, NEFL, LRPAP1, ACTN2, SNTA1, SNCA, PRKCG, STXBP1, MUSK, POMC, SLC5A7, GABRG2, BCR, GRIN2A, DLG3, CHRNE, NGF, PRKCD, HCCS, GRIK2, KCNJ10, TGFB1, AP4M1, ATM, GNAL, CARD11, CASK, STX1B, PRKACA, CACNA1C, PITX2, DRD5, BDNF, APP, CHAT, KCNJ2, SLC6A1, EPS8, ITGA7, MAPT, GNRH1, STX16, NR3C1, ESR1, PIK3R1, MTOR, CAST

LOEYS-DIETZ SYNDROME 1, MENTAL RETARDATION, X-LINKED 30/47, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MAY-HEGGLIN ANOMALY, 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, IMMUNODEFICIENCY 33, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLUCOCORTICOID RESISTANCE, SEBASTIAN SYNDROME, SHORT SYNDROME, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, IMMUNODEFICIENCY 19, FECHTNER SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, MACROCEPHALY/AUTISM SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, LYMPHOPROLIFERATIVE SYNDROME 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, WISKOTT-ALDRICH SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, DEAFNESS, AUTOSOMAL DOMINANT 17, EPSTEIN SYNDROME, EPIDERMAL NEVUS, ESTROGEN RESISTANCE, RABSON-MENDENHALL SYNDROME, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CLEFT PALATE, ISOLATED, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, TAB2, ITK, CD3D, CBL, ACTG1, TBK1, ISG15, PIK3R2, IKBKG, PTPN11, HLA-DRB1, CD3G, MYH9, BCL10, NFKB1, ESR1, CD3E, INSR, AKT1, PAK3, TRAC, B2M, CARD11, CD247, NFKBIA, ITCH, HLA-DQB1, PCNA, TGFBR1, PIK3CA, TNFRSF1A, EGFR, UBB, PTEN, ZAP70, IRF8, NR3C1, WAS, PIK3R1, PTPRC, IKBKB, MALT1

BARAITSER-WINTER SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, CLEFT PALATE, ISOLATED, MYHRE SYNDROME, 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, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, NAXOS DISEASE, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, WAARDENBURG SYNDROME, TYPE 3, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, ALEXANDER DISEASE, CAMURATI-ENGELMANN DISEASE, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PAPILLARY THYROID CARCINOMA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TRIGONOCEPHALY 1, ESTROGEN RESISTANCE, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TRICHOMEGALY, MACULAR DYSTROPHY, PATTERNED, 2, ?RENAL HYPODYSPLASIA/APLASIA 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?MULTIPLE SYNOSTOSES SYNDROME 3, AMYOTROPHIC LATERAL SCLEROSIS 19, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, CRANIOFRONTONASAL DYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, LIEBENBERG SYNDROME, SPINOCEREBELLAR ATAXIA 15, ?IMMUNODEFICIENCY 22, LOEYS-DIETZ SYNDROME 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MACROCEPHALY/AUTISM SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, CATARACT 16, MULTIPLE TYPES, PARKINSON DISEASE 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CATSHL SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, BLEEDING DISORDER, PLATELET-TYPE, 15, DIAMOND-BLACKFAN ANEMIA 6, BEARE-STEVENSON CUTIS GYRATA SYNDROME, SMITH-KINGSMORE SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, LONG QT SYNDROME 14, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, APERT SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, BENT BONE DYSPLASIA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, {MELANOMA, CUTANEOUS MALIGNANT, 2}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, METACARPAL 4-5 FUSION, SPLIT-HAND/FOOT MALFORMATION 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, DUCHENNE MUSCULAR DYSTROPHY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, DEAFNESS, AUTOSOMAL RECESSIVE 89, HARTSFIELD SYNDROME, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMMON VARIABLE IMMUNODEFICIENCY 1, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CARDIOMYOPATHY, DILATED, 1NN, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, MYOPIA 23, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NEUROFIBROMATOSIS, TYPE 1, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, ELLIPTOCYTOSIS-2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY, MYOFIBRILLAR, 4, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, RETINITIS PIGMENTOSA 13, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ATRIAL FIBRILLATION, FAMILIAL, 6, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, 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, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?FIBROMATOSIS, GINGIVAL, 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, CORNEAL DYSTROPHY, AVELLINO TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, NOONAN SYNDROME 7, THROMBOCYTOPENIA 4, MICROPHTHALMIA, SYNDROMIC 6, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, PSEUDOHYPOALDOSTERONISM, TYPE IIE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPHEROCYTOSIS, TYPE 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MASA SYNDROME, CRASH SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CARDIOMYOPATHY, DILATED, 1II, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PREMATURE AGING SYNDROME, PENTTINEN TYPE, BARAITSER-WINTER SYNDROME 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, SLC34A1, EZH2, CAV1, NFKB1, SPTA1, PRPF8, CTNNA1, MYC, PRKACA, ACTB, CUL3, PIK3CA, ACTN1, ANK2, RPL5, F2, AGT, TGFBI, GFAP, ATP1A2, CDK5, ARHGEF9, SNCA, MUSK, EDN1, GJA1, IL17RD, NEB, UBB, PITX1, FGF17, CDKN2A, HSPB1, FGF3, ERBB4, RAB7A, SPTAN1, SHOC2, CYCS, ACTN4, NCF4, BMP4, NF1, ERBB2, NGF, PRKACG, IL2RG, CTNNB1, SF3B4, LDB3, ACTA1, CSF2RB, RASA1, F13A1, KRAS, RUNX1, MAP2K2, NPPA, PSMB8, IGF2, NOS3, MTOR, FGFR1, LEP, AKT2, JAK2, CBL, SMARCE1, CCND1, SPRED1, KARS, STAT1, JUP, NRAS, CRYAB, NCF2, ITPR1, GLUD1, GDNF, SPRY2, FGF23, LAMTOR2, GRIN2A, RPS6KA3, FGF5, DUSP6, BRAF, INS, NFKB2, PAX3, NCF1, CD44, ITGB3, UBE2A, IL2RA, ACE, EP300, SMAD4, VWF, SPTBN2, PAX2, PPP2R1A, HLA-DRB1, PDGFRB, SYN1, DMD, KL, GRIN2B, HES7, CDKN1B, FGF20, PLK4, ITGB2, AKT1, CYBA, CCND2, PLEC, ITPR2, DDX58, ERBB3, DIAPH1, EPS8, NEFL, IKBKB, HNRNPK, LRPAP1, FN1, CSNK1D, SYNGAP1, UBQLN2, KCNQ2, EFNB1, AKAP9, PTEN, FGFR3, FGF9, TSC1, DLX5, KIT, STAT3, RUNX2, LCK, RAF1, DLG3, SMAD3, CYBB, PRKCD, PPP2R5D, FBLN1, ACTG1, CSF1R, PIK3R2, NTRK1, PTPN11, SOS2, JAK3, ITGA2B, VCP, FGF10, TGFB1, SPRY4, ESR1, KITLG, PCNA, INSR, NOTCH1, AKT3, PDGFB, SOS1, TP53, FGFR2, FGF16, PAK3, PHB, TNFAIP3, PDGFRA, L1CAM, BDNF, APP, MEF2A, APC, HRAS, EGFR, ACTN2, ITK, PLAU, NR0B2, NR3C1, HSPG2, SPTB, CDH1, PIK3R1, KDR, SERPINE1, SHH

BARAITSER-WINTER SYNDROME 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, THANATOPHORIC DYSPLASIA, TYPE II, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, EPISODIC PAIN SYNDROME, FAMILIAL, 3, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LISSENCEPHALY 5, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, SPHEROCYTOSIS, TYPE 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, MENTAL RETARDATION, X-LINKED 99, TRIGONOCEPHALY 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 1E, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, BRUGADA SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 16, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, BRUGADA SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, PAROXYSMAL EXTREME PAIN DISORDER, ATRIAL FIBRILLATION, FAMILIAL, 13, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, BENT BONE DYSPLASIA SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ATRIAL FIBRILLATION, FAMILIAL, 14, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, SPHEROCYTOSIS, TYPE 2, EHLERS-DANLOS SYNDROME, TYPE 3, ?MENTAL RETARDATION, X-LINKED 100, CATSHL SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, EPISODIC PAIN SYNDROME, FAMILIAL, 2, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, SICK SINUS SYNDROME 1, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, LONG QT SYNDROME 14, PSEUDOHYPOALDOSTERONISM, TYPE I, JACKSON-WEISS SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, SADDAN, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, EPIDERMAL NEVUS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, LISSENCEPHALY 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, BEARE-STEVENSON CUTIS GYRATA SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, DEAFNESS, AUTOSOMAL DOMINANT 56, NOONAN SYNDROME 4, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LI-FRAUMENI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VISCERAL MYOPATHY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ELLIPTOCYTOSIS-2, LEUKODYSTROPHY, HYPOMYELINATING, 6, APERT SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, HYPOKALEMIC PERIODIC PARALYSIS 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SEIZURES, BENIGN NEONATAL, TYPE 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, NICOLAIDES-BARAITSER SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 24, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, MYASTHENIC SYNDROME, CONGENITAL, 16, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, DEAFNESS, AUTOSOMAL DOMINANT 20/26, PARAMYOTONIA CONGENITA, FEBRILE SEIZURES, FAMILIAL, 3B, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 7, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, LYMPHEDEMA, HEREDITARY, ID, ?FIBROMATOSIS, GINGIVAL, 1, GLANZMANN THROMBASTHENIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, DEAFNESS, AUTOSOMAL RECESSIVE 39, CROUZON SYNDROME, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, LONG QT SYNDROME-3, MASA SYNDROME, CRASH SYNDROME, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, ATRIAL FIBRILLATION, FAMILIAL, 10, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

CALM1, DNM1, TUBB2A, DNM2, LAMB1, TUBA4A, TUBB2B, FGFR3, CNTN2, CDK5, KCNQ3, SMARCA2, SCNN1G, PAFAH1B1, ACTG1, SLC9A3R1, ACTB, TNC, VEGFC, NOTCH1, SCN1B, SCN5A, RPS6KA3, AP2S1, ITGA2B, SCN2A, DLG3, CNTN1, LAMA1, SPTA1, USP9X, LRP2, RDX, SCN8A, SCN10A, SCN9A, AKT1, SCN4B, BIN1, SCN4A, SOS1, KIF4A, FGFR2, FGFR1, F2, PLK4, VCP, TP53, SCN11A, CLASP1, SCNN1A, L1CAM, ITGB2, SPTAN1, MAP2K2, GRIN2B, SCN1A, KDR, SPTBN2, CDH1, HRAS, ANK3, TUBA1A, EGFR, ANK1, HGF, SDC3, KCNQ2, TUBB3, MYH11, SCN3B, NGF, TUBB1, DCX, SPTB, ITGB3, TUBB4A, CNTNAP1, CTNNB1, SCN2B, ANK2, USH2A

?GLYCOGEN STORAGE DISEASE XV, GM1-GANGLIOSIDOSIS, TYPE III, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, LACTASE DEFICIENCY, CONGENITAL, CLEFT PALATE, ISOLATED, GM1-GANGLIOSIDOSIS, TYPE I, POLYGLUCOSAN BODY MYOPATHY 2, GM1-GANGLIOSIDOSIS, TYPE II, MCARDLE DISEASE, FRUCTOSE INTOLERANCE, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IS, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, BURKITT LYMPHOMA, ATRIOVENTRICULAR SEPTAL DEFECT 4, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS IH, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, MUCOPOLYSACCHARIDOSIS IH/S, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, GLYCOGEN STORAGE DISEASE 0, MUSCLE, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), VENTRICULAR SEPTAL DEFECT 1, RETINITIS PIGMENTOSA 73, [FRUCTOSURIA], MUCOPOLYSACCHARIDOSIS IVA, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY)

NEU1, GLB1, LCT, ALDOB, MYC, SMAD4, NHLRC1, GNS, GYS1, GUSB, IDS, PYGM, GYG1, IDUA, UBB, HGSNAT, NAGLU, GATA4, SGSH, GALNS, KHK, ARSB, EPM2A

CORNEAL DYSTROPHY, LATTICE TYPE I, PREMATURE OVARIAN FAILURE 7, SUPRANUCLEAR PALSY, PROGRESSIVE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, FACTOR V DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, OTOPALATODIGITAL SYNDROME, TYPE II, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, HERMANSKY-PUDLAK SYNDROME 1, MYOPIA 6, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, COLE-CARPENTER SYNDROME 2, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, {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, FRONTOTEMPORAL DEMENTIA, HYPER-IGE RECURRENT INFECTION SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, ACHROMATOPSIA 7, SALLA DISEASE, EXOSTOSES, MULTIPLE, TYPE 1, SENIOR-LOKEN SYNDROME 6, MANDIBULOACRAL DYSPLASIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {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, WARSAW BREAKAGE SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ECTOPIA LENTIS ET PUPILLAE, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, LEUKODYSTROPHY, HYPOMYELINATING, 11, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, BOHRING-OPITZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, JOUBERT SYNDROME 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, IMMUNODEFICIENCY, COMMON VARIABLE, 12, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, C3 DEFICIENCY, SPINOCEREBELLAR ATAXIA 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, AORTIC ANEURYSM, FAMILIAL THORACIC 8, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY, COMMON VARIABLE, 13, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, CATARACT 16, MULTIPLE TYPES, IMMUNODEFICIENCY 44, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, OVARIAN HYPERSTIMULATION SYNDROME, DIAMOND-BLACKFAN ANEMIA 4, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, SELECTIVE T-CELL DEFECT, HARTNUP DISORDER, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, HAY-WELLS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, LYSYL HYDROXYLASE 3 DEFICIENCY, KAHRIZI SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, RETINITIS PIGMENTOSA 59, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], CITRULLINEMIA, TYPE II, NEONATAL-ONSET, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, BRACHYDACTYLY, TYPE E2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, WIEDEMANN-STEINER SYNDROME, ATRIAL SEPTAL DEFECT 2, LEUKODYSTROPHY, HYPOMYELINATING, 6, EHLERS-DANLOS SYNDROME, TYPE VIIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, HYPOTRICHOSIS 12, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, POROKERATOSIS 3, MULTIPLE TYPES, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, WEILL-MARCHESANI-LIKE SYNDROME, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, LATERAL MENINGOCELE SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, GLANZMANN THROMBASTHENIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, NOONAN SYNDROME 7, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, INFANTILE CEREBELLAR-RETINAL DEGENERATION, QUEBEC PLATELET DISORDER, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, PICK DISEASE, XERODERMA PIGMENTOSUM, GROUP B, 2-METHYLBUTYRYLGLYCINURIA, HYPOMYELINATION, GLOBAL CEREBRAL, DIAMOND-BLACKFAN ANEMIA 3, RIDDLE SYNDROME, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, MULTIPLE FIBROADENOMAS OF THE BREAST, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ANEMIA, SIDEROBLASTIC, 4, AORTIC ANEURYSM, FAMILIAL THORACIC 4, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, BONE MARROW FAILURE SYNDROME 1, CORNEAL DYSTROPHY, AVELLINO TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, COMPLEMENT FACTOR D DEFICIENCY, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, SPINOCEREBELLAR ATAXIA 14, ?SPINOCEREBELLAR ATAXIA 26, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, HYPOTRICHOSIS 11, LEOPARD SYNDROME 3, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, NEPHROTIC SYNDROME, TYPE 11, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CARDIOMYOPATHY, DILATED, 1NN, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, GM1-GANGLIOSIDOSIS, TYPE I, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, ?DIAMOND-BLACKFAN ANEMIA 12, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, OLIGODONTIA-COLORECTAL CANCER SYNDROME, DIAMOND-BLACKFAN ANEMIA 8, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, HEMOPHILIA A, DENYS-DRASH SYNDROME, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYOPATHY, MYOFIBRILLAR, 1, FRAXE, CHIME SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, MALOUF SYNDROME, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, SEGAWA SYNDROME, RECESSIVE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ADAMS-OLIVER SYNDROME 5, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, LACTASE DEFICIENCY, CONGENITAL, EVEN-PLUS SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, KNOBLOCH SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, MUSCULAR DYSTROPHY, CONGENITAL, MARFAN LIPODYSTROPHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 5, DEAFNESS, AUTOSOMAL DOMINANT 6/14/38, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COMMON VARIABLE IMMUNODEFICIENCY 1, SPINOCEREBELLAR ATAXIA 1, GELEOPHYSIC DYSPLASIA 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, NOONAN SYNDROME 10, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, 46XY SEX REVERSAL 3, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, IMMUNODEFICIENCY 23, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, PULMONARY HYPERTENSION, PRIMARY, 3, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 24, SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, EXOSTOSES, MULTIPLE, TYPE 2, CORNEAL FLECK DYSTROPHY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, DEAFNESS, AUTOSOMAL DOMINANT 20/26, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ICHTHYOSIS, X-LINKED, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, POLYCYSTIC LIVER DISEASE, KOSAKI OVERGROWTH SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, HYPERPROINSULINEMIA, ASPARAGINE SYNTHETASE DEFICIENCY, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, LEUKODYSTROPHY, HYPOMYELINATING, 9, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, ?OLMSTED SYNDROME, X-LINKED, PAPILLARY THYROID CARCINOMA, VON WILLEBRAND DISEASE, PLATELET-TYPE, POROKERATOSIS 7, MULTIPLE TYPES, 3MC SYNDROME 1, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, HEART-HAND SYNDROME, SLOVENIAN TYPE, TUMOR PREDISPOSITION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, GRISCELLI SYNDROME, TYPE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, XERODERMA PIGMENTOSUM, GROUP D, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, CEROID LIPOFUSCINOSIS, NEURONAL, 10, RETINITIS PIGMENTOSA 70, PULMONARY VENOOCCLUSIVE DISEASE 2, HERMANSKY-PUDLAK SYNDROME 7, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, REVESZ SYNDROME, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CAMURATI-ENGELMANN DISEASE, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, PERLMAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, ?OPTIC ATROPHY 9, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, COENZYME Q10 DEFICIENCY, PRIMARY, 6, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, 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, WERNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DEAFNESS, AUTOSOMAL RECESSIVE 24, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, 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, LOEYS-DIETZ SYNDROME 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, DIAMOND-BLACKFAN ANEMIA 9, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?CATARACT 41, OSTEOGENESIS IMPERFECTA, TYPE III, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPLENIC HYPOPLASIA, USHER SYNDROME TYPE 3B, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 13, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FILS SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, CHYLOMICRON RETENTION DISEASE, LIMB-MAMMARY SYNDROME, STIFF SKIN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, ?DIAMOND-BLACKFAN ANEMIA 11, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DIAMOND-BLACKFAN ANEMIA 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, IMMUNODEFICIENCY 11, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CHOROID PLEXUS PAPILLOMA, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, DEAFNESS, AUTOSOMAL RECESSIVE 39, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, POLYCYTHEMIA VERA, SOMATIC, COLE-CARPENTER SYNDROME 1, BURKITT LYMPHOMA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, RETINITIS PIGMENTOSA 74, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, PRADER-WILLI SYNDROME, XERODERMA PIGMENTOSUM, GROUP C, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, MIRROR MOVEMENTS 1, VENTRICULAR SEPTAL DEFECT 1, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COENZYME Q10 DEFICIENCY, PRIMARY, 1, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMINOGLYCINURIA, DIGENIC, LOEYS-DIETZ SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ?ATRIAL FIBRILLATION 15, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FACTOR VII DEFICIENCY, BARDET-BIEDL SYNDROME 2, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, MYOPATHY, MYOFIBRILLAR, 2, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, MYHRE SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, {PARKINSON DISEASE 17}, NEPHROTIC SYNDROME, TYPE 4, MASP2 DEFICIENCY, ACROMICRIC DYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, CONGENITAL DISORDER OF DEGLYCOSYLATION, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, ?46XY SEX REVERSAL 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, MOHR-TRANEBJAERG SYNDROME, SPERMATOGENIC FAILURE 8, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, C4A DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, STAR SYNDROME, PROPERDIN DEFICIENCY, X-LINKED, HYPERPARATHYROIDISM 1, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 6, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, TREACHER COLLINS SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, MICROPHTHALMIA WITH COLOBOMA 5, ADENYLOSUCCINASE DEFICIENCY, 3-M SYNDROME 1, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, GLUCOCORTICOID RESISTANCE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, CORNELIA DE LANGE SYNDROME 3, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ALBINISM, OCULOCUTANEOUS, TYPE III, BARDET-BIEDL SYNDROME 3, ?HYPERPROLACTINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, PETERS-PLUS SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, NESTOR-GUILLERMO PROGERIA SYNDROME, ADULT SYNDROME, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, ?PARKINSONISM WITH SPASTICITY, X-LINKED, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, SPINOCEREBELLAR ATAXIA 36, COWCHOCK SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CITRULLINEMIA, ADULT-ONSET TYPE II, JACKSON-WEISS SYNDROME, MIRROR MOVEMENTS 2, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, WEAVER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, THROMBOCYTHEMIA 3, CHOREA, HEREDITARY BENIGN, CORNELIA DE LANGE SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, NIEMANN-PICK DISEASE, TYPE C2, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLIOMA SUSCEPTIBILITY 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, THYROID DYSHORMONOGENESIS 3, ?MYOFIBROMATOSIS, INFANTILE 2, ECTOPIA LENTIS, FAMILIAL, PULMONARY HYPERTENSION, PRIMARY, 2, METACHROMATIC LEUKODYSTROPHY, {PARKINSON DISEASE 18}, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, LISSENCEPHALY 3, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, INFANTILE MYOFIBROMATOSIS 1, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, SPONDYLOCOSTAL DYSOSTOSIS 5, GRISCELLI SYNDROME, TYPE 1, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, HEMOPHILIA B, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, GM1-GANGLIOSIDOSIS, TYPE II, DIAMOND-BLACKFAN ANEMIA 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, CEROID LIPOFUSCINOSIS, NEURONAL, 2, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GM1-GANGLIOSIDOSIS, TYPE III, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, THROMBOCYTOPENIA 4, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, NEPHROTIC SYNDROME, TYPE 12, TIETZ ALBINISM-DEAFNESS SYNDROME, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, CALCIUM OXALATE UROLITHIASIS, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, CARDIOMYOPATHY, DILATED, 1II, ?MYOPATHY, SCAPULOHUMEROPERONEAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, 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, NONAKA MYOPATHY, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CALM1, APOE, RPL5, ADAMTS13, SNRPE, PLOD3, PROS1, HSPB1, TSC2, NGLY1, PIGW, GP1BA, GNAS, CIITA, ATP6V1B1, KIF11, ADAMTS18, ALG3, CDC6, LCT, B2M, SLC17A5, RANBP2, PIGO, RAB7A, FAM58A, NCF4, ARSE, RPS19, GFI1B, ATN1, CREBBP, RPS24, SLC6A19, PTEN, ECHS1, AXIN2, DHDDS, HAMP, F9, P4HB, PAXIP1, CBS, MTOR, MGAT2, ALG11, GRIN2B, IFNG, AIFM1, TUBB2B, CCND1, JAK2, EFTUD2, AAAS, ITPR1, GALNT3, HSPD1, RPS10, TP63, DNMT3A, SMC3, CP, BANF1, TUBG1, CTNNB1, SERPINC1, SCO2, SMAD4, PRKG1, CEP290, CD40LG, LEP, NKX2-1, CTSD, COLQ, NUP62, PPP2R1A, AKT1, LHB, UBE3A, EZH2, A2M, IL1B, ACTA2, HSPA9, GNE, RAF1, XRCC4, XPC, CFP, EIF2B1, ASNS, MASP1, HNRNPK, CD59, EIF2B5, PIGL, PTPN11, GMPPA, RPL21, RPS26, RARS, STXBP1, MT-CO2, SOD1, GATA4, CALR, PRPF4, CTCF, ATF6, GHRL, EGFR, UCP1, NR3C1, EXOC8, FSHB, SEC23A, PARK7, APOB, MMP1, ACTB, COL1A2, B3GLCT, GFAP, CCT5, CTPS1, REN, HCFC1, WT1, PGAP1, DES, CYCS, TGFBI, SOS1, CDC73, MBTPS2, BBS2, ARHGDIA, ERBB2, NR5A1, CYC1, MVD, IKBKAP, CUL7, SF3B4, SHOC2, ACAN, MMP2, PLAU, SERPINA1, PIGM, MPI, IL12B, NOTCH1, MYCN, ERCC3, SMAD9, EDNRA, NR2F2, RPS29, EXOSC8, KIF5C, ESR1, FSHR, MAFB, SPINT2, ADAMTS10, PIKFYVE, MEN1, HARS, BAP1, HGF, TAZ, FANCA, STS, RB1, FGF23, STAT3, BRAF, SNAP25, PIGA, UCHL1, DPH1, IGF1, SRP72, GMPPB, EEF2, NFKB2, BMP2, HRAS, NDN, SMC1A, PCSK1, ATXN1, ERBB3, TP53, HLA-C, IKBKB, AQP2, PRKCG, SEC24D, TUBB4A, MYH6, VDR, AR, DLG3, PPP2R5D, FBLN1, ACTG1, ASXL1, PRKCSH, TGFB1, FTH1, CARD11, EIF2AK3, SPTLC1, APPL1, TBCE, ZBTB16, PLG, BLM, DNMT1, ACTN4, IL6, PHB, DCN, B4GALT1, ADAMTSL4, POLR1C, APC, TUFM, PMPCA, ADAMTS17, ADAM17, EPOR, SMAD3, HSPG2, EXT2, F10, SERPINE1, SKIV2L, LMNA, F2, PAFAH1B1, ADSL, RAD21, F7, FAS, SERPINB6, IKBKG, MUC1, CAV1, AGT, PMM2, TAF6, CDK5, CDH1, IKZF1, ALG1, RPL15, MYC, NOP56, ST3GAL5, SIL1, JAG1, GFPT1, SERPING1, RBPJ, ERBB4, ACTA1, F5, SMARCA4, RUNX1, CBL, LZTR1, IGF2, NOS3, PARN, MAPT, KIF5A, MOGS, ACTN1, ABCA1, PROC, ITGA6, MET, ACO2, RPS17, CD44, SLC35A1, C3, RUNX2, TNFRSF1A, ADAMTS2, SPRY2, ST3GAL3, TSHR, ALG6, SLC25A13, RPS6KA3, ACVR1, INS, PAM16, TYRP1, HAX1, FASLG, DIS3L2, RPSA, EEF1A2, ITGB3, MUC5B, TNPO3, HSD17B10, EXT1, STAT1, TXN2, VHL, ASCC1, COL4A1, ARL6, TG, RDX, FKBP14, BRCA1, ITGB2, FN1, TUBB3, BIN1, COQ2, FOXC2, FBN1, DCTN1, FECH, KISS1R, RHO, DPM2, TSHB, ACADSB, RPS7, STAT2, BTK, SSR4, SMARCB1, PRKCD, CHEK2, DPM1, EIF2B4, CENPE, TBP, AP3B1, FGF10, ADAMTSL2, KITLG, POLE, HERC2, TIMM8A, CBX2, ATP6AP2, MSX1, RPL26, STX11, APP, TNC, MFAP5, COQ6, CDK4, ACTN2, ZAP70, SLC25A12, PRLR, TINF2, DHFR, ALG13, PDGFB, ISCU, TPP1, PIGV, MAN1B1, COL1A1, DNAJC19, POT1, F8, SRD5A3, PIGT, TAP1, TUBB1, DDX3X, RAB27A, MYO5A, PPARG, AGTR1, ARHGEF9, PTHLH, EIF2B2, SOX10, CDKN2A, RPS14, MASP2, NEU1, ALG2, BMP4, ERCC2, PDGFRB, CD40, PIGG, DNMT3B, MITF, ACE, SDHD, STT3A, KRAS, PAX6, WFS1, WRN, LPIN1, ARSA, AKT2, ARFGEF2, EIF4G1, COPA, DDX11, ALG10, C4A, YARS, CRYAB, TGFBR1, EP300, RAD51, NUP107, CLPB, NOTCH3, SART3, PCBD1, PCNA, ACADVL, PTPRC, CFB, EDN1, GJA1, BCS1L, RPS28, VWF, MC2R, CASR, NUP155, VPS35, TH, EIF2AK4, TUBB2A, PRKDC, PLK4, DTNBP1, SEC63, DOLK, PGM3, SLC25A4, TUBA1A, NUP93, PHC1, ARSB, DNAJC3, XRCC3, ACADM, NPC2, DDOST, NR2F1, SUMF1, SAR1B, LCK, GLE1, RFT1, FLNA, TUBA4A, NGF, RNF168, PDHA1, RPL35A, ATM, GLB1, IRF3, NFKB1, CFD, FXN, INSR, POMC, TUSC3, EIF2B3, FGFR2, PACS1, CDKN1B, RPL11, ATP5A1, DPAGT1, TBX6, DCC, EXOSC3, MPDU1, GNRH1, COL4A3BP, CFTR, MYH11, ATR, GOSR2, PIK3R1, KDR, HFE, PIGN, SHH