MOLECULAR BASIS

BARAITSER-WINTER SYNDROME 1, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, EPISODIC ATAXIA, TYPE 5, HYPER-IGE RECURRENT INFECTION SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 20, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, LEIOMYOMATOSIS AND RENAL CELL CANCER, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONE-ROD DYSTROPHY, X-LINKED, 3, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BARAITSER-WINTER SYNDROME 2, SPINOCEREBELLAR ATAXIA 14, ?SPINOCEREBELLAR ATAXIA 26, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ATRIAL FIBRILLATION, FAMILIAL, 9, ?DYSTONIA 23, FRONTOTEMPORAL DEMENTIA, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, 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, MYXOMA, INTRACARDIAC, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MOYAMOYA 6 WITH ACHALASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, IMMUNODEFICIENCY 36, AORTIC ANEURYSM, FAMILIAL THORACIC 8, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PEUTZ-JEGHERS SYNDROME, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, NOONAN SYNDROME 9, COFFIN-SIRIS SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, ?SPINOCEREBELLAR ATAXIA 41, GLIOMA SUSCEPTIBILITY 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, AURICULOCONDYLAR SYNDROME 2, LONG QT SYNDROME 13, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, BURKITT LYMPHOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, EPIDERMAL NEVUS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, KEPPEN-LUBINSKY SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LOEYS-DIETZ SYNDROME 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, FUMARASE DEFICIENCY, TIMOTHY SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, NOONAN SYNDROME 4, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARDIOMYOPATHY, DILATED, 1NN, AURICULOCONDYLAR SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CLOVE SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, 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, HYPOKALEMIC PERIODIC PARALYSIS 1, 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, {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, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, ATRIAL STANDSTILL 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 11, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, DEAFNESS, AUTOSOMAL DOMINANT 20/26, POLYCYSTIC LIVER DISEASE, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, 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}, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LONG QT SYNDROME 14, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MENTAL RETARDATION, X-LINKED 90, PICK DISEASE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, PARKINSON DISEASE, JUVENILE, TYPE 2, RETINAL CONE DYSTROPHY 4, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATRIAL FIBRILLATION, FAMILIAL, 6, DIAMOND-BLACKFAN ANEMIA 1, CARDIOMYOPATHY, DILATED, 1U, 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, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, OVARIAN HYPERSTIMULATION SYNDROME, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, MPDZ, CACNA2D4, ADCY1, PDE4D, MYC, ACTB, GNAS, CACNA1B, PSEN1, AGT, KCNJ6, PRKAR1A, EDN1, BTK, STK11, FH, NPR2, ADRB2, PIK3CA, BMP4, PRKCG, CACNB4, HNRNPA1, ADCY6, PRKAG2, PRKACG, SMARCB1, KRAS, TRPC3, TUBA1A, NPPA, DRD2, NOS3, CABP4, CACNA1D, EDNRA, MEF2C, PIK3CD, FSHR, CCND1, CACNA1F, TJP2, GP6, ITPR1, PRKG1, RUNX2, CASR, RYR1, RPS6KA3, STAT3, ADCY5, SOS2, PLIN1, TGFBR1, GNAI3, EEF2, MYLK, SYN1, DMD, KCNJ5, PPP2R1A, GRIN2B, FOXP3, AKT1, GNAQ, ITPR2, CFTR, PARK2, TP53, EPS8, AXIN1, MAP2K2, RPS19, ATIC, RAF1, ECHS1, PIK3R5, STAT2, RYR2, GUCY1A3, MYH6, NRAS, DLG3, KCNMA1, GNAO1, ACTG1, PIK3R2, PRKCSH, ATM, CASK, PLCB1, PRKACA, CACNA1C, MYLK2, SOS1, ACTN4, IL6, ZHX2, CACNA1S, FLNC, MEF2A, KCNJ2, HRAS, EGFR, ACTN2, PIK3R1, SERPINE1, MTOR, PLCB4

CORNEAL DYSTROPHY, LATTICE TYPE I, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, BARAITSER-WINTER SYNDROME 1, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CORTICAL MALFORMATIONS, OCCIPITAL, CZECH DYSPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, ATELOSTEOGENESIS, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, CORNEAL DYSTROPHY, AVELLINO TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, MELNICK-NEEDLES SYNDROME, CARDIOMYOPATHY, DILATED, 1JJ, PORENCEPHALY 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA PRURIGINOSA, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, SPINOCEREBELLAR ATAXIA 14, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, GILLESPIE SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, AMELOGENESIS IMPERFECTA, TYPE IA, MIYOSHI MUSCULAR DYSTROPHY 1, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, 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, PSEUDOACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CORNEAL DYSTROPHY, CONGENITAL STROMAL, ?REYNOLDS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?STEEL SYNDROME, ESTROGEN RESISTANCE, {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}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OSTEOGENESIS IMPERFECTA, TYPE XVII, ?BARDET-BIEDL SYNDROME 11, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, KNOBLOCH SYNDROME 1, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ADAMS-OLIVER SYNDROME 5, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, TOENAIL DYSTROPHY, ISOLATED, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, DILATED, 1NN, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, 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, LOEYS-DIETZ SYNDROME 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}, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, OPITZ GBBB SYNDROME, TYPE I, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, FOVEAL HYPOPLASIA 1, PARKINSON DISEASE 1, NEPHROTIC SYNDROME, TYPE 8, BENIGN FAMILIAL HEMATURIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, LONG QT SYNDROME 14, EPIDERMOLYSIS BULLOSA, PRETIBIAL, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, AURICULOCONDYLAR SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, BURKITT LYMPHOMA, LONG QT SYNDROME 15, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, BETHLEM MYOPATHY 1, DEAFNESS, AUTOSOMAL DOMINANT 13, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, STICKLER SYNDROME, TYPE I, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 5, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, IMMUNODEFICIENCY 36, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PELGER-HUET ANOMALY, MENTAL RETARDATION, X-LINKED 46, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 56, ?DEAFNESS, X-LINKED 6, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, HYPERPROINSULINEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, INFANTILE MYOFIBROMATOSIS 1, RENAL TUBULAR DYSGENESIS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, HETEROTOPIA, PERIVENTRICULAR, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ?MYOSCLEROSIS, CONGENITAL, GLIOMA SUSCEPTIBILITY 1, VISCERAL MYOPATHY, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, MACROCEPHALY/AUTISM SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 53, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, WAARDENBURG SYNDROME, TYPE 2D, 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}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, 46,XX SEX REVERSAL, TYPE 2, HEMOCHROMATOSIS TYPE 1, ATAXIA-OCULOMOTOR APRAXIA 3, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, WAGNER SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DILATED CARDIOMYOPATHY 1DD, FIBROCHONDROGENESIS 2, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, DISTAL, TATEYAMA TYPE, KOSAKI OVERGROWTH SYNDROME, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, RIPPLING MUSCLE DISEASE, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, TRANSIENT BULLOUS OF THE NEWBORN, LYMPHEDEMA, HEREDITARY, ID, SMED STRUDWICK TYPE, ?FIBROMATOSIS, GINGIVAL, 1, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, RENAL ADYSPLASIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE A2, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, AVASCULAR NECROSIS OF THE FEMORAL HEAD, 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}, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, AMELOGENESIS IMPERFECTA, TYPE IH, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, VESICOURETERAL REFLUX 8, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, METHYLMALONIC ACIDURIA, MUT(0) TYPE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, THROMBOCYTOPENIA 5, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, PIERSON SYNDROME, PROTEUS SYNDROME, SOMATIC, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME, MARSHALL SYNDROME

CALM1, COL10A1, CAV1, SMAD3, MYC, MID1, ACTB, LBR, IGBP1, COL3A1, ITGB6, LAMB1, AGT, A2M, COL11A2, CDK5, SPARC, CDH1, DDR2, SOX10, F2, AKT2, HGF, ITGA3, COL4A5, SPTAN1, LAMB2, ADRB2, TRIM32, VEGFC, PIK3CA, TGFBI, SERPINH1, PDGFRA, SNAI2, ARHGDIA, TNXB, CD40, COL2A1, CTNNB1, RAF1, ACE, RASA1, ERBB2, ACAN, MYOC, LAMA4, PAX6, EGFR, COL6A2, IGF2, FLT4, NOS3, IL6, DAG1, COL6A1, MTOR, LAMA1, MEF2C, COL1A2, PIK3CD, TPM1, COL1A1, CBL, COL18A1, CCND1, MET, COMP, CD40LG, COL4A6, RELN, DCN, TGFBR1, TAF1, COL5A1, ARHGEF6, SPRY2, TNNT2, STAT3, BRAF, INS, TNC, LAMB3, COL7A1, CD44, CAV3, EDN1, FLNC, ITGB3, ITGA8, SOX9, DYSF, IGF1, COL4A4, VWF, PRKG1, COL17A1, MYLK, PDGFRB, LAMA3, DMD, VHL, COL4A1, GRIN2B, BMP2, EDNRB, FN1, CCND2, MMP2, PRKDC, IGF1R, MUT, DIAPH1, LRP2, RB1CC1, COL27A1, ACTN2, LAMC3, AKT1, SNCA, COL6A3, IL1B, PRKCG, EFNB1, PTEN, MUSK, PIK3R5, ITGA6, PLG, MYH6, PFKM, FLNA, MYH11, BIN1, PRKCD, COL25A1, TUBG1, ACTG1, LAMC2, MYLK2, PIK3R2, TGFB1, LAMA2, COL5A2, CXCR4, SOS2, THBS4, ITGA2B, VCAN, COL11A1, ITGB4, NEB, VPS11, SERPINE1, INSR, NOTCH1, AKT3, PDGFB, SOS1, TP53, ACTN4, COL4A3, PAK3, PIP5K1C, COL4A2, APP, CD36, ACTN1, FLNB, HRAS, ETV6, GJA1, ITGA7, CALR, HTRA1, ALB, HSPG2, ESR1, TGFBR2, PIK3R1, KDR, MTRR, SHH

MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, AMYOTROPHIC LATERAL SCLEROSIS 20, OTOPALATODIGITAL SYNDROME, TYPE II, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, 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, ?IMMUNODEFICIENCY 39, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MACULAR DYSTROPHY, RETINAL, 2, ADAMS-OLIVER SYNDROME 5, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, EHLERS-DANLOS SYNDROME, TYPE 3, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, ATRIAL SEPTAL DEFECT 9, ANGELMAN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, KAPPA LIGHT CHAIN DEFICIENCY, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ?TETRA-AMELIA SYNDROME, VENTRICULAR SEPTAL DEFECT 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HOLT-ORAM SYNDROME, HAY-WELLS SYNDROME, BRACHYDACTYLY, TYPE A1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, EMBERGER SYNDROME, CULLER-JONES SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ATRIAL SEPTAL DEFECT 2, BRACHYDACTYLY, TYPE A2, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, {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, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, EXUDATIVE VITREORETINOPATHY 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CRANIOSYNOSTOSIS, TYPE 2, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ?FIBROMATOSIS, GINGIVAL, 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, DYSTONIA-PARKINSONISM, X-LINKED, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?CARDIOMYOPATHY, DILATED, 2A, DEAFNESS, AUTOSOMAL RECESSIVE 39, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DYSAUTONOMIA, FAMILIAL, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, OSTEOGENESIS IMPERFECTA, TYPE XV, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, FOCAL DERMAL HYPOPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT FACTOR D DEFICIENCY, MELNICK-NEEDLES SYNDROME, GLANZMANN THROMBASTHENIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PSEUDOHYPOPARATHYROIDISM IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CARDIOMYOPATHY, DILATED, 1NN, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, HOLOPROSENCEPHALY-9, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RETICULATE ACROPIGMENTATION OF KITAMURA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, NOONAN SYNDROME 9, IMMUNODEFICIENCY 19, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, LONG QT SYNDROME 14, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, 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, TARSAL-CARPAL COALITION SYNDROME, FRAXE, DYSTONIA 9, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, SYMPHALANGISM, PROXIMAL, 1A, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ?IMMUNODEFICIENCY 25, CLEFT PALATE, ISOLATED, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, SPONDYLOPERIPHERAL DYSPLASIA, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 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}, 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, PULMONARY HYPERTENSION, PRIMARY, 3, ?IMMUNODEFICIENCY 22, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CORNEAL FLECK DYSTROPHY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, HYPERPROINSULINEMIA, 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, AVASCULAR NECROSIS OF THE FEMORAL HEAD, LYMPHEDEMA, HEREDITARY, ID, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, ADULT SYNDROME, ?PARKINSONISM WITH SPASTICITY, X-LINKED, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, LOEYS-DIETZ SYNDROME 4, LEOPARD SYNDROME 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, IMMUNODEFICIENCY 15, CAMURATI-ENGELMANN DISEASE, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, WAARDENBURG SYNDROME, TYPE 3, DEJERINE-SOTTAS DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AORTIC VALVE DISEASE 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, IMMUNODEFICIENCY 43, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, SPLIT-HAND/FOOT MALFORMATION 6, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, RETINITIS PIGMENTOSA 38, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FILS SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {GLIOBLASTOMA 3}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, AXENFELD-RIEGER SYNDROME, TYPE 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LIMB-MAMMARY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LISSENCEPHALY 3, SERKAL SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, BURKITT LYMPHOMA, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, LOEYS-DIETZ SYNDROME 5, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, ODONTOONYCHODERMAL DYSPLASIA, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, [PREMATURE CHROMATID SEPARATION TRAIT], AYME-GRIPP SYNDROME, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46XY SEX REVERSAL 6, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, LADD SYNDROME, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, RETINITIS PIGMENTOSA 41, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, BRACHYDACTYLY, TYPE B1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, HYPERPARATHYROIDISM 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CZECH DYSPLASIA, IMMUNODEFICIENCY 21, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, GLUCOCORTICOID RESISTANCE, BARAITSER-WINTER SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, STICKLER SYNDROME, TYPE I, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TRIGONOCEPHALY 1, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IC, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, 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, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, HYPERFERRITINEMIA-CATARACT SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 4, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, CROUZON SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYOPATHY, DISTAL, TATEYAMA TYPE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, SCHOPF-SCHULZ-PASSARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, THROMBOCYTHEMIA 3, CHOREA, HEREDITARY BENIGN, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, IMMUNODEFICIENCY 33, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, SED CONGENITA, KNIEST DYSPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), 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, CALCIUM OXALATE UROLITHIASIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CHOROID PLEXUS PAPILLOMA, INFANTILE MYOFIBROMATOSIS 1, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, PANCREATIC CANCER/MELANOMA SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CATARACT 21, MULTIPLE TYPES, ?MYOPATHY, SCAPULOHUMEROPERONEAL, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, TIETZ ALBINISM-DEAFNESS SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 7, SMITH-KINGSMORE SYNDROME

CALM1, SOD1, BRCA2, EZH2, CAV1, FGFR1, CD3D, CTNNA1, MYC, MAP3K1, ACTB, GNAS, KRAS, IKBKG, GFI1, COL1A2, MSX1, SMARCA4, RPL5, FTL, TERT, IGKC, PPARG, LEP, OTX2, ALB, CDH1, WNT5A, CFD, B2M, AKT2, CDKN2A, NOG, EGR2, HGF, BMP4, RAB7A, TGFBR1, COL1A1, MERTK, NFKBIA, PIK3CA, TGFBI, SOS1, NOTCH1, PRF1, TGFBR2, HNRNPA1, PDGFRB, SMAD4, ADCY6, IKBKAP, MSX2, COL2A1, IL2RG, RAF1, BCKDHA, ACTA1, WNT7A, TGFB2, ACVR1, CNTN2, RUNX1, GLI2, TUBA1A, EGFR, FGF9, CREBBP, WRN, NOS3, THRA, CD3G, BUB1B, CIITA, MTOR, ADCY1, CD3E, EDA, TAF6, MECP2, PIK3CD, FZD4, IFNG, MRE11A, CBL, PRKACG, CCND1, CD247, JAK2, PROM1, PIKFYVE, NKX2-1, WNT3, WNT1, MEN1, ITPR1, VEGFC, HSPD1, ROR2, SPRY2, ACTA2, WNT10A, GSC, TNFRSF11A, IRF8, TP63, ADCY5, AXIN2, PTPRC, INS, LRP6, IRF7, PAX8, GATA1, CAV3, CD44, ITGB3, AGL, SHH, CTNNB1, IL2RA, CSF2RB, EP300, IGF1, DVL3, TAF1, PAX2, HLA-DRB1, TGFB3, FLNA, CASR, NFKB2, PPP2R1A, BMP2, FOXP3, TNFRSF1A, BRCA1, ITGB2, AKT1, CCND2, FZD6, TRAC, TBX5, CFTR, TNFRSF13C, UQCRC2, HLA-DQB1, SLC25A4, IKBKB, CD40, SLC9A3R1, IHH, T, GLI3, POLD1, FN1, CSNK1D, GATA6, IL1B, MITF, PTEN, MUSK, PIK3R5, MAF, AXIN1, ITGA6, PLG, RUNX2, RB1, USH2A, LCK, NRAS, SLC2A1, ZAP70, NGF, CD40LG, CHEK2, PAX3, ACTG1, ATR, CSF1R, PIK3R2, TGFB1, PRKCSH, PTPN11, ATM, SOS2, JAK3, TBP, DVL1, FGF10, IRF3, STAT1, NFKB1, STAT3, MT-CO2, INSR, HLA-B, POMC, AKT3, PDGFB, POLE, PITX2, TP53, DNMT1, CXCR4, FGFR2, IL6, ATP6AP2, ZHX2, GATA4, PDGFRA, PCNA, SERPINA1, SMAD6, ACTN1, APC, HRAS, GDNF, HLA-C, CDK4, ACTN2, WNT4, PRKACA, CALR, SMAD3, ADAM10, NR3C1, HSPG2, ESR1, TNNI3, WNT10B, KDR, SERPINE1, PORCN, GATA2, PIK3R1, MMP2

CORNEAL DYSTROPHY, LATTICE TYPE I, SUPRANUCLEAR PALSY, PROGRESSIVE, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, ?NEUTROPHILIA, HEREDITARY, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, 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, ?IMMUNODEFICIENCY 39, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DYSTONIA-11, MYOCLONIC, CANDIDIASIS, FAMILIAL, 9, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, {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}, CATSHL SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, FRONTOTEMPORAL DEMENTIA, POROKERATOSIS 7, MULTIPLE TYPES, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?STEEL SYNDROME, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, 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}, TRICHOMEGALY, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ADAMS-OLIVER SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, HYPERPROINSULINEMIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, C3 DEFICIENCY, SPINOCEREBELLAR ATAXIA 15, GILLESPIE SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, BENIGN FAMILIAL HEMATURIA, IMMUNODEFICIENCY 44, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, LONG QT SYNDROME 14, EPIDERMOLYSIS BULLOSA, PRETIBIAL, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, HAY-WELLS SYNDROME, BRACHYDACTYLY, TYPE A1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, LYSYL HYDROXYLASE 3 DEFICIENCY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NOONAN SYNDROME 4, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, 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, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, SEGAWA SYNDROME, RECESSIVE, DEAFNESS, AUTOSOMAL RECESSIVE 39, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, DEAFNESS, AUTOSOMAL DOMINANT 13, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, QUEBEC PLATELET DISORDER, AMELOGENESIS IMPERFECTA, TYPE IH, PICK DISEASE, HETEROTOPIA, PERIVENTRICULAR, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, MULTIPLE FIBROADENOMAS OF THE BREAST, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, AORTIC ANEURYSM, FAMILIAL THORACIC 4, CORTICAL MALFORMATIONS, OCCIPITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, MUIR-TORRE SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, EPIDERMOLYSIS BULLOSA PRURIGINOSA, BLAU SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LISSENCEPHALY 5, WAARDENBURG SYNDROME, TYPE 2D, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEIER-GORLIN SYNDROME 5, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, CLEFT PALATE, ISOLATED, CARDIOMYOPATHY, DILATED, 1NN, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RETICULATE ACROPIGMENTATION OF KITAMURA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, DYSTONIA 27, CHOANAL ATRESIA AND LYMPHEDEMA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, ?RENAL HYPODYSPLASIA/APLASIA 2, JOUBERT SYNDROME 5, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PSEUDOHYPOALDOSTERONISM, TYPE I, 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, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, TARSAL-CARPAL COALITION SYNDROME, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, OPSISMODYSPLASIA, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, METACARPAL 4-5 FUSION, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, EVEN-PLUS SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, HARTSFIELD SYNDROME, KNOBLOCH SYNDROME 1, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 3}, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPINOCEREBELLAR ATAXIA 27, SPONDYLOPERIPHERAL DYSPLASIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, 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}, 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, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, HYPOTRICHOSIS 8, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, TRANSIENT BULLOUS OF THE NEWBORN, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, LYMPHEDEMA, HEREDITARY, ID, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADULT SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, DEAFNESS, AUTOSOMAL RECESSIVE 53, GLYCOGEN STORAGE DISEASE 0, MUSCLE, TUMOR PREDISPOSITION SYNDROME, FACTOR XIIIA DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, LEOPARD SYNDROME 1, LOEYS-DIETZ SYNDROME 4, IMMUNODEFICIENCY 15, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, SADDAN, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPLENIC HYPOPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FANCONI RENOTUBULAR SYNDROME 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AXENFELD-RIEGER SYNDROME, TYPE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, SENIOR-LOKEN SYNDROME 6, LIMB-MAMMARY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LISSENCEPHALY 3, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, COLE-CARPENTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, WAGNER SYNDROME 1, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, BETHLEM MYOPATHY 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PEUTZ-JEGHERS SYNDROME, WISKOTT-ALDRICH SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, ODONTOONYCHODERMAL DYSPLASIA, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, KOSAKI OVERGROWTH SYNDROME, FIBROCHONDROGENESIS 2, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, 46,XX SEX REVERSAL, TYPE 2, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PORENCEPHALY 2, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, SPINOCEREBELLAR ATAXIA 12, LADD SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, SPERMATOGENIC FAILURE 8, APERT SYNDROME, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MARSHALL SYNDROME, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, THANATOPHORIC DYSPLASIA, TYPE II, MULTIPLE SULFATASE DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ?HYPERPROLACTINEMIA, GLUCOCORTICOID RESISTANCE, CARDIOMYOPATHY, DILATED, 1JJ, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, VESICOURETERAL REFLUX 8, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TRIGONOCEPHALY 1, RUBINSTEIN-TAYBI SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, 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, PREMATURE OVARIAN FAILURE 7, HYPERFERRITINEMIA-CATARACT SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, AMELOGENESIS IMPERFECTA, TYPE IA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPLIT-HAND/FOOT MALFORMATION 1, SCHOPF-SCHULZ-PASSARGE SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, ?DEAFNESS, X-LINKED 6, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, THROMBOCYTHEMIA 3, IMMUNODEFICIENCY 33, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, STICKLER SYNDROME, TYPE II, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?MYOSCLEROSIS, CONGENITAL, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?MYOFIBROMATOSIS, INFANTILE 2, {LEPROSY, SUSCEPTIBILITY TO}, PCWH SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, EHLERS-DANLOS SYNDROME, TYPE IV, CHOROID PLEXUS PAPILLOMA, AGAMMAGLOBULINEMIA 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INFANTILE MYOFIBROMATOSIS 1, VON WILLIBRAND DISEASE, TYPE 3, 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, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MISMATCH REPAIR CANCER SYNDROME, THROMBOCYTOPENIA 4, NEPHROTIC SYNDROME, TYPE 12, MECKEL SYNDROME 4, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, IMMUNODEFICIENCY, COMMON VARIABLE, 3, HEMOCHROMATOSIS, TYPE 2B, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CALM1, SLC34A1, IHH, LAMB1, LAMA1, WNT5A, CDK5, SMAD3, MYC, PRPH, BLK, ACTB, FAS, IGBP1, IKBKG, G6PC, COL3A1, MAPT, ITGB6, MMP1, FTL, F2, MAG, AGT, TP63, COL11A2, PPARG, LEP, COL5A1, ARHGEF9, OTX2, IGF2, ACAN, CDH1, BTK, GJA1, G6PC3, HCFC1, PLAU, UBB, KISS1R, STK11, WNT10A, PTPN14, NOG, FGF3, HGF, ITGA3, ITCH, COL4A5, COL2A1, TGFBR1, TGFB2, RAF1, CDC6, PROK2, COL1A1, SHOC2, PIK3CA, TGFBI, ITGA8, NOTCH1, PRF1, PDGFRA, JAG1, SNAI2, LAMC2, TNXB, SMAD4, TBK1, CD79B, TUBG1, SOX2, IL2RG, RBPJ, COL10A1, ERBB4, PLOD3, ACTA1, CSF2RB, EDNRA, ERBB2, COL27A1, F13A1, KRAS, LAMA4, RUNX1, PAX6, VWF, FGF9, PIK3R5, DRD2, SP7, IFNAR2, CDK6, PIK3R2, COL4A3, DAG1, COL6A1, MTOR, FGFR1, MVD, SCNN1A, COL7A1, PAX2, PKD1, GHR, PIK3CD, BAP1, VCAN, COMP, CALR, ESR1, CBL, GFAP, ITGA6, CCND1, MET, JAK2, STAT1, COL4A6, NRAS, GNAS, RELN, COL4A2, MIB1, ITPR1, VEGFC, HSPD1, TLR2, SPRY2, NOTCH3, PPP2R2B, NLRP1, LAMB3, FGF23, CREBBP, RPS6KA3, FGF5, DDR2, DUSP6, INS, TNC, IRF7, SOS2, GNB4, EDN1, CD44, ITGB3, SHH, CTNNB1, IL2RA, WNT7A, BLNK, SERPINH1, EP300, IGF1, COL4A1, TUBA1A, FLT4, C3, CEP290, INSR, COL17A1, GYS1, MMP2, PDGFRB, CASR, MYOC, LAMA3, HRG, SOX9, VHL, COL4A4, PPP2R1A, GRIN2B, BMP2, FGF20, BRCA1, AKT1, CCND2, BIN1, LPAR6, PRKDC, TSC2, FOXC2, ABCB11, IGF1R, COL18A1, WAS, TP53, EGFR, RB1CC1, AKT2, EPOR, IKBKB, CYCS, MAP2K2, RPSA, ACTN2, NUP93, LAMC3, FN1, RHO, FGF17, IL1B, HSPA9, EFNB1, PTEN, FGFR3, HAMP, TH, TSC1, NOD2, STAT2, INPPL1, DLX5, COL6A3, KIT, STAT3, RUNX2, SUMF1, RB1, LCK, CSF3R, COL6A2, FLNA, FGF14, NR0B2, NGF, PRKCD, PPP2R5D, IL7R, NR3C1, CSF1R, NOS3, NR5A1, TGFB1, P4HB, PTPN11, CXCR4, THBS4, ITGA2B, COL11A1, ITGB4, IRF3, NFKB1, CR2, KITLG, PCNA, APOE, CD19, IL17RC, AKT3, TBXA2R, SOS1, PITX2, MSH2, FGFR2, FGF16, IL6, COL5A2, T, PIK3R1, CDKN1B, JAK3, DCN, L1CAM, BDNF, APP, CD36, ACTN1, FOXF1, EDNRB, LAMA2, COL1A2, FASLG, CDK4, ITGA7, CD40, COL25A1, GNRH1, PLG, MYH11, ADAM10, ALB, HSPG2, FGF10, PRLR, TGFBR2, HRAS, PDGFB, KDR, LAMB2, SERPINE1, SOX10, ATIC

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, GLUCOCORTICOID RESISTANCE, ?IMMUNODEFICIENCY 39, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, BARAITSER-WINTER SYNDROME 2, BLAU SYNDROME, FECHTNER SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, CATARACT 21, MULTIPLE TYPES, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, IMMUNODEFICIENCY 19, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, LONG QT SYNDROME 14, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SEBASTIAN SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, LONG QT SYNDROME 15, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, IMMUNODEFICIENCY 36, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, 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, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, 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}, {LEPROSY, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL DOMINANT 17, EPSTEIN SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, INFANTILE MYOFIBROMATOSIS 1, AYME-GRIPP SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, MAY-HEGGLIN ANOMALY, WOLCOTT-RALLISON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, RETINITIS PIGMENTOSA 11, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AICARDI-GOUTIERES SYNDROME 6, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, OSTEOLYSIS, FAMILIAL EXPANSILE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, QUEBEC PLATELET DISORDER, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, ATAXIA-OCULOMOTOR APRAXIA 3, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 2, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CD3D, PRPF31, MFN2, FAS, CDK6, IRF7, CDK5, CDH1, APOB, BTK, B2M, AKT2, TFRC, APRT, PIK3CA, PRF1, GFI1B, TGFBR2, TBK1, IL2RG, PDGFRB, DNM1, IFIH1, RUNX1, PLAU, CREBBP, ISG15, IFNAR2, IL12B, CD3G, MTOR, CD3E, PIK3CD, IFNG, CBL, CCND1, NFKBIA, CD40LG, IRF8, TGFBR1, HSPD1, TNFRSF1A, SH2D1A, TNFRSF11A, STAT3, TYK2, IFNGR1, TAB2, CD44, DDX3X, GJA1, IL2RA, ADAR, CD40, STAT1, BRCA1, AKT1, CCND2, CFTR, APOA1, TP53, FASLG, CASP8, CDK4, IL1B, EIF2AK4, PIK3R5, MAF, NOD2, STAT2, TLR2, RB1, LCK, IFNGR2, PRKCD, ACTG1, PIK3R2, TGFB1, PTPN11, CXCR4, JAK3, DDX58, EIF2AK3, BCL10, IRF3, NFKB1, CD46, HLA-B, AKT3, FADD, FCGR2B, PTPRC, IL6, CDKN1B, TNFAIP3, PCNA, HRAS, EGFR, MYH9, NR3C1, ESR1, JAK2, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, REVESZ SYNDROME, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ADAMS-OLIVER SYNDROME 6, 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}, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ?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, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, TUMOR PREDISPOSITION SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, MYOTUBULAR MYOPATHY, X-LINKED, 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, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, FRONTOMETAPHYSEAL DYSPLASIA, ?CATARACT 45, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {GLIOMA SUSCEPTIBILITY 9}, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, TRICHOMEGALY, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MACULAR DYSTROPHY, PATTERNED, 2, SPINOCEREBELLAR ATAXIA 27, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, HUNTINGTON DISEASE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?MULTIPLE SYNOSTOSES SYNDROME 3, AMYOTROPHIC LATERAL SCLEROSIS 19, MULTIPLE ENDOCRINE NEOPLASIA IIA, 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}, BENT BONE DYSPLASIA SYNDROME, GLANZMANN THROMBASTHENIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RETICULATE ACROPIGMENTATION OF KITAMURA, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CEREBRAL CAVERNOUS MALFORMATIONS-2, MACROCEPHALY/AUTISM SYNDROME, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PARKINSON DISEASE 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CATSHL SYNDROME, URBACH-WIETHE DISEASE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LONG QT SYNDROME 14, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, WHIM SYNDROME, 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, LONG QT SYNDROME 15, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BARAITSER-WINTER SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LADD SYNDROME, SEGAWA SYNDROME, RECESSIVE, MENTAL RETARDATION, X-LINKED 19, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, ?RENAL HYPODYSPLASIA/APLASIA 2, 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, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, LYMPHEDEMA, HEREDITARY, IA, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CLEFT PALATE, ISOLATED, ATRIAL SEPTAL DEFECT 5, HYPERPROINSULINEMIA, MIRROR MOVEMENTS 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RENAL TUBULAR DYSGENESIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NEPHROTIC SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, KAPPA LIGHT CHAIN DEFICIENCY, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, HETEROTOPIA, PERIVENTRICULAR, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GLIOMA SUSCEPTIBILITY 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ALAGILLE SYNDROME, AURICULOCONDYLAR SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, 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, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DEAFNESS, AUTOSOMAL RECESSIVE 24, 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, CARDIOMYOPATHY, DILATED, 1NN, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PULMONARY HYPERTENSION, PRIMARY, 3, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, PSEUDOHYPOPARATHYROIDISM IA, CARDIOMYOPATHY, HYPERTROPHIC, 11, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, DYSTONIA-11, MYOCLONIC, BLEEDING DISORDER, PLATELET-TYPE, 11, MYOPATHY, DISTAL, TATEYAMA TYPE, KOSAKI OVERGROWTH SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, 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, 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, LYMPHEDEMA, HEREDITARY, ID, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, MYOPIA 23, AUTOSOMAL RECESSIVE, CORNEAL DYSTROPHY, AVELLINO TYPE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, METACARPAL 4-5 FUSION, PAPILLARY THYROID CARCINOMA, RENAL ADYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, QUEBEC PLATELET DISORDER, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, 46,XX SEX REVERSAL, TYPE 2, NEPHROTIC SYNDROME, TYPE 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, DRD2, MPDZ, DLL4, CAV1, ADCY1, RASGRP2, CTNNA1, MYC, POT1, ACTB, FAS, GNAS, ACTN1, F2, KRIT1, AGT, IGKC, GNAI3, OTX2, CDH1, PLAU, UBB, AKT2, FGF3, TGFBR1, EPS8, SPTAN1, ADRB2, DNM2, PIK3CA, TGFBI, DUSP6, JAG1, ERBB2, ACTC1, IGF1, ADCY6, ECM1, RBPJ, ERBB4, ACTA1, SOX9, ACVR1, KRAS, RUNX1, MAP2K2, FGF9, POMC, NME1, ACTN4, IGF2, NOS3, MTOR, EDNRA, MEF2C, LEP, PIK3CD, CBL, CCND1, MET, HTT, GP6, VEGFC, BAP1, SPRY2, FGF23, GRIN2A, RPS6KA3, FGF5, ADCY5, BRAF, INS, JAM3, GFAP, FCGR2A, CAV3, EDN1, RET, ITGB3, CTNNB1, NRAS, SMAD4, FLT4, PAX2, CCM2, PDGFRB, GRIN2B, HES7, FOXP3, FGF20, ITGB2, RDX, FN1, CCND2, GNAQ, AXIN1, FGFR1, FOXC2, IGF1R, ATXN1, PRKCD, TP53, NPHS1, EGFR, NCF2, SIPA1L3, IKBKB, SLC9A3R1, HGF, A2M, AKT1, SNCA, FGF17, PRKCG, EFNB1, PTEN, FGFR3, MUSK, PIK3R5, TH, GNRH1, PLG, KIT, RUNX2, LCK, RAF1, FLNA, FGF14, NGF, GNAO1, HTR1A, ACTG1, CSF1R, PIK3R2, TGFB1, PLCE1, PTPN11, CXCR4, PIP5K1C, ITGA2B, LRPAP1, CFTR, FGF10, PCLO, PLCB1, STAT3, KITLG, INSR, NOTCH1, AKT3, PDGFB, SPRY4, FGFR2, FGF16, TINF2, IL6, PIK3R1, ZHX2, PDGFRA, BDNF, APP, HRAS, DCC, LRP2, ACTN2, ADA, SMAD3, ADAM10, HSPG2, ESR1, PLCB4, KDR, SERPINE1, SHH

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, TYPE 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, ATELOSTEOGENESIS, TYPE I, SELECTIVE T-CELL DEFECT, 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, LYMPHEDEMA, HEREDITARY, IA, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLUCOCORTICOID RESISTANCE, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, DYSTONIA-11, MYOCLONIC, 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, CATSHL SYNDROME, LEOPARD SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, THROMBOCYTOPENIA 5, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, {LEPROSY, SUSCEPTIBILITY TO}, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, AORTIC VALVE DISEASE 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, TRICHOMEGALY, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, ?RENAL HYPODYSPLASIA/APLASIA 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, PAPILLARY THYROID CARCINOMA, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?MULTIPLE SYNOSTOSES SYNDROME 3, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, AMYOTROPHIC LATERAL SCLEROSIS 19, MICROPHTHALMIA WITH COLOBOMA 5, MULTIPLE ENDOCRINE NEOPLASIA IIA, 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, LARSEN SYNDROME, HYPOCHONDROPLASIA, LIEBENBERG SYNDROME, RETICULATE ACROPIGMENTATION OF KITAMURA, SPINOCEREBELLAR ATAXIA 15, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CROUZON SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PARKINSON DISEASE 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 3, OVARIAN HYPERSTIMULATION SYNDROME, LONG QT SYNDROME 14, NEPHROTIC SYNDROME, TYPE 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BRACHYDACTYLY, TYPE E2, 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, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MULTIPLE ENDOCRINE NEOPLASIA 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LADD SYNDROME, SEGAWA SYNDROME, RECESSIVE, LEFT VENTRICULAR NONCOMPACTION 7, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PAPILLORENAL SYNDROME, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, INFANTILE NEUROAXONAL DYSTROPHY 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, HETEROTOPIA, PERIVENTRICULAR, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, IMMUNODEFICIENCY 33, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SPINOCEREBELLAR ATAXIA 27, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GLIOMA SUSCEPTIBILITY 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ALAGILLE SYNDROME, BRACHYDACTYLY, TYPE A2, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, MYOTONIC DYSTROPHY 2, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CARDIOMYOPATHY, DILATED, 1NN, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SPINOCEREBELLAR ATAXIA 17, BLEEDING DISORDER, PLATELET-TYPE, 11, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, INCONTINENTIA PIGMENTI, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, KOSAKI OVERGROWTH SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, HYPERPROINSULINEMIA, 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}, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, 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, LYMPHEDEMA, HEREDITARY, ID, NEUROFIBROMATOSIS, TYPE 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, METACARPAL 4-5 FUSION, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, PAGET DISEASE OF BONE 3, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 39, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NOONAN SYNDROME 7, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, MACROCEPHALY/AUTISM SYNDROME, TUMOR PREDISPOSITION SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PSEUDOHYPOALDOSTERONISM, TYPE IIE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, MENTAL RETARDATION, X-LINKED 30/47, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, NEPHROTIC SYNDROME, TYPE 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, BENT BONE DYSPLASIA SYNDROME, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ATELOSTEOGENESIS, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, LRPAP1, SQSTM1, NFKB1, RASGRP2, GNB4, ADRB2, CNBP, PRKACA, CUL3, IKBKG, KRIT1, GRIN2B, GFAP, LEP, CDK5, ARHGEF9, OTX2, PTHLH, SNCA, CDH1, PITX1, AKT2, CDKN2A, FGF3, ERBB4, RAB7A, TGFBR1, SPTAN1, TH, PLA2G6, PIK3CA, ACTN4, PRKCG, JAG1, ARHGDIA, ERBB2, IGF1, TBK1, PRKACG, RBPJ, NF1, ACTA1, RASA1, ECHS1, KRAS, ERBB3, FSHR, MAP2K2, LHX3, FGF9, CD40, NME1, PLCG2, PLCE1, FLT4, NOS3, MTOR, FGFR1, SCARB2, PIK3CD, BAP1, ZHX2, CBL, CCND1, MET, GNAS, AVPR2, GP6, ITPR1, GLUD1, VEGFC, BCR, SPRY2, FGF23, GRIN2A, FGF5, DUSP6, BRAF, INS, PAX8, NCF1, EDN1, MIB1, ALDOA, GJA1, NRAS, SMAD4, ETV6, PAX2, PFKM, PDGFRB, HES7, ACVR1, MEN1, BMP2, FGF20, VPS11, FN1, CCND2, DRD2, FOXC2, IGF1R, RUNX1, TP53, EGFR, IKBKB, HGF, A2M, AKT1, RHO, FGF17, IL1B, HSPA9, EFNB1, TUBB3, PTEN, FGFR3, MUSK, PIK3R5, GNRH1, CHRM3, PLG, KIT, TLR2, LCK, RAF1, FLNA, FGF14, ZAP70, NGF, PRKCD, PTS, CSF1R, PIK3R2, TGFB1, PTPN11, CXCR4, SOS2, TBP, FGF10, SPRY4, STAT3, KITLG, INSR, NOTCH1, AKT3, PDGFB, SOS1, FGFR2, FGF16, IL6, PAK3, PDGFRA, BDNF, APP, RET, SYNGAP1, SERPINE1, HRAS, FASLG, ACTN2, SMAD6, NR0B2, ADAM10, NR3C1, ESR1, PIK3R1, KDR, FLNB, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ACNE INVERSA, FAMILIAL, 3, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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}, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EXUDATIVE VITREORETINOPATHY 4, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, BURKITT LYMPHOMA, SPINOCEREBELLAR ATAXIA 14, CARASIL SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, 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, WAARDENBURG SYNDROME, TYPE 2D, FRONTOTEMPORAL DEMENTIA, HEMOCHROMATOSIS TYPE 1, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FRONTOMETAPHYSEAL DYSPLASIA, MULTIPLE SYNOSTOSES SYNDROME 1, ANEMIA, SIDEROBLASTIC, 4, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, ESTROGEN RESISTANCE, ALZHEIMER DISEASE, TYPE 4, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, DIAPHANOSPONDYLODYSOSTOSIS, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BRACHYDACTYLY, TYPE C, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, GLIOMA SUSCEPTIBILITY 1, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, OSTEOGENESIS IMPERFECTA, TYPE IV, HOLOPROSENCEPHALY-9, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, DU PAN SYNDROME, HYPERPROINSULINEMIA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MISMATCH REPAIR CANCER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, DIAMOND-BLACKFAN ANEMIA 8, SYMPHALANGISM, PROXIMAL, 1A, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, BRACHYDACTYLY, TYPE A1, C, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, NAXOS DISEASE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, DENYS-DRASH SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, OVARIAN HYPERSTIMULATION SYNDROME, PITT-HOPKINS SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], ACROCAPITOFEMORAL DYSPLASIA, LEBER CONGENITAL AMAUROSIS 17, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TARSAL-CARPAL COALITION SYNDROME, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, VENTRICULAR SEPTAL DEFECT 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WAARDENBURG SYNDROME, TYPE 3, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, FACTOR X DEFICIENCY, JACKSON-WEISS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, BRACHYDACTYLY, TYPE A1, D, LADD SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, BRACHYDACTYLY, TYPE A1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, SERKAL SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, CULLER-JONES SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, LOEYS-DIETZ SYNDROME 5, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BLEEDING DISORDER, PLATELET-TYPE, 15, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, HETEROTOPIA, PERIVENTRICULAR, ?DYSTONIA, JUVENILE-ONSET, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, SED CONGENITA, KNIEST DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, ATRIAL SEPTAL DEFECT 2, GELEOPHYSIC DYSPLASIA 2, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), AVASCULAR NECROSIS OF THE FEMORAL HEAD, MACROCEPHALY/AUTISM SYNDROME, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, {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}, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, CALCIUM OXALATE UROLITHIASIS, ECTOPIA LENTIS, FAMILIAL, WAARDENBURG SYNDROME, TYPE 1, PULMONARY VENOOCCLUSIVE DISEASE 1, ODONTOONYCHODERMAL DYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 24, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, SPLIT-HAND/FOOT MALFORMATION 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, TUBEROUS SCLEROSIS-1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, EXUDATIVE VITREORETINOPATHY 1, OSTEOGENESIS IMPERFECTA, TYPE III, MYHRE SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, DEAFNESS, AUTOSOMAL DOMINANT 20/26, BARAITSER-WINTER SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, [BONE MINERAL DENSITY VARIABILITY 1], SPONDYLOCOSTAL DYSOSTOSIS 5, POLYCYSTIC LIVER DISEASE, FRASIER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, ALPHA-FETOPROTEIN DEFICIENCY, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, 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, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, HAY-WELLS SYNDROME, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MUIR-TORRE SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, OLIGODONTIA-COLORECTAL CANCER SYNDROME, NEPHROTIC SYNDROME, TYPE 4, CARDIOMYOPATHY, DILATED, 1U, LEUKEMIA, CHRONIC MYELOID, SOMATIC, ACROMICRIC DYSPLASIA, ADULT SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, MICROPHTHALMIA, SYNDROMIC 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, SPINOCEREBELLAR ATAXIA 12, OSTEOGENESIS IMPERFECTA, TYPE XV, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MENTAL RETARDATION, X-LINKED 90, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PALLISTER-HALL SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, NEPHROTIC SYNDROME, TYPE 6, BRACHYDACTYLY, TYPE A2, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

MPDZ, WNT5A, CTNNA1, MYC, ACTB, GDF6, PSEN1, MLH1, GRIN2B, CDK5, OTX2, PTHLH, PTPRO, CDH1, FRZB, PLG, NOG, WT1, ERBB4, COL1A1, GDF5, BMP4, BMPER, PRKCG, SNAI2, TGFBR2, COL2A1, RPS7, ACTA1, WNT7A, NF2, ERBB2, TGFB2, ACVR1, SOX2, ERBB3, GLI2, FGF9, ACTN1, NOS3, FGFR1, EDA, COL1A2, FZD4, FSHR, CCND1, JUP, TGFBR1, EP300, RUNX2, ROR2, T, PPP2R2B, GSC, TP63, AXIN2, INS, BMPR2, CD44, CTNNB1, SOX9, YAP1, SMAD4, NLGN3, DVL3, PAX2, TJP2, TGFB3, FLNA, PITX2, VHL, KIF1B, PPP2R1A, BMP2, RDX, F10, BRCA1, ITGB2, AKT1, CCND2, FZD6, AXIN1, DVL1, RUNX1, TP53, NPHS1, FBN1, IHH, GLI3, CSNK1D, PSTPIP1, HSPA9, PTEN, MUSK, STAT3, BCR, DLG3, HTRA1, NGF, PAX3, ACTG1, NR3C1, WNT3, TGFB1, GATA4, FGF10, AFP, ESR1, TCF4, NOTCH1, WNT10A, DNMT1, LRP5, CTNNA3, WNT1, PCNA, APP, TBX6, APC, CRB2, EGFR, ACTN2, WNT4, GNRH1, SMAD3, BMPR1B, TSC1, WNT10B, KDR, SERPINE1, PORCN, SHH

MULTIPLE FIBROADENOMAS OF THE BREAST, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, CARDIOFACIOCUTANEOUS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ?HYPERPROLACTINEMIA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PREMATURE OVARIAN FAILURE 7, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, SHORT SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OPSISMODYSPLASIA, VENTRICULAR SEPTAL DEFECT 1, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, SEGAWA SYNDROME, RECESSIVE, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, POLYCYTHEMIA VERA, SOMATIC, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GLIOMA SUSCEPTIBILITY 1, SPERMATOGENIC FAILURE 8, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, 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, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, GALACTOSEMIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 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}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?FIBROMATOSIS, GINGIVAL, 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, OSTEOLYSIS, FAMILIAL EXPANSILE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, THROMBOCYTOPENIA 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NRAS, ERBB2, NGF, LHB, MAP2K2, ADRB2, NR3C1, AKT3, ETV6, BCL10, PIK3R2, INSR, STAT1, KRAS, CCND1, GCK, NFKB1, STAT3, LEP, POMC, AKT2, MTOR, GALT, CCND2, CTNNB1, INPPL1, SOS1, ESR1, PIK3CD, IL6, ERBB3, JAK2, PRKCD, GATA4, IGF2, CD40, TH, APP, NR5A1, PIK3CA, TP53, AKT1, HRAS, EGFR, SPRY2, POR, TSHR, GNRH1, RAF1, TNFRSF11A, PIK3R5, PRLR, STAT2, PIK3R1, INS, ERBB4, SOS2

CORNEAL DYSTROPHY, LATTICE TYPE I, HYPER-IGE RECURRENT INFECTION SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?NEUTROPHILIA, HEREDITARY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, CORNEAL DYSTROPHY, AVELLINO TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, STICKLER SYNDROME, TYPE I, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, OTOPALATODIGITAL SYNDROME, TYPE II, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 19, CZECH DYSPLASIA, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HAJDU-CHENEY SYNDROME, C3 DEFICIENCY, 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, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ADAMS-OLIVER SYNDROME 3, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BURKITT LYMPHOMA, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, KAPPA LIGHT CHAIN DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, HYPOSPADIAS 1, X-LINKED, VISCERAL MYOPATHY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AVASCULAR NECROSIS OF THE FEMORAL HEAD, 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, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY, COMMON VARIABLE, 5, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ALAGILLE SYNDROME 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ANDROGEN INSENSITIVITY, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), 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, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, VON WILLEBRAND DISEASE, PLATELET-TYPE, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, QUEBEC PLATELET DISORDER, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, HETEROTOPIA, PERIVENTRICULAR, IMMUNODEFICIENCY, COMMON VARIABLE, 3, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

LCK, FASLG, CSF2RB, CSF1R, ITGB3, MYH11, IL7R, IL2RA, CSF3R, MYC, CD8A, IGF1, GP9, GP1BA, PIK3CA, FLT4, ZAP70, NOTCH2, CXCR4, CR2, HLA-DRB1, F2, IL11RA, AGT, IGKC, CD19, KITLG, CD44, LEP, PRF1, HLA-B, POMC, FLNA, C3, IL1RN, AKT1, FN1, MMP1, IFNG, CALR, GP1BB, B2M, PTPRC, ITGA6, THPO, CBL, JAK2, IGHM, ITGA3, TFRC, CD46, EPOR, PCNA, IL31RA, APP, IL6, KDR, CD36, CD3G, TGFBI, ITGA2B, AR, CD3E, MS4A1, HLA-C, CD3D, PLAU, CCND2, NHP2, IL1B, SMAD3, CD59, CD40, STAT3, RBPJ, COL2A1, PTPN11, KIT, CD81, ERBB2, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SUPRANUCLEAR PALSY, PROGRESSIVE, IMMUNODEFICIENCY 15, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, ?FIBROMATOSIS, GINGIVAL, 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, HUTCHINSON-GILFORD PROGERIA, ATELOSTEOGENESIS, TYPE I, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, 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, ENDOCRINE-CEREBROOSTEODYSPLASIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, LIMB-MAMMARY SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, 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, ?DYSTONIA 23, FRONTOTEMPORAL DEMENTIA, ALEXANDER DISEASE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, AURICULOCONDYLAR SYNDROME 3, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, FRONTOMETAPHYSEAL DYSPLASIA, EPISODIC ATAXIA, TYPE 2, LOEYS-DIETZ SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, ALZHEIMER DISEASE, TYPE 4, TRIGONOCEPHALY 1, AORTIC VALVE DISEASE 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {GLIOMA SUSCEPTIBILITY 9}, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, TRICHOMEGALY, RUBINSTEIN-TAYBI SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, ACNE INVERSA, FAMILIAL, 3, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, MANDIBULOACRAL DYSPLASIA, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, LI-FRAUMENI SYNDROME, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ?MULTIPLE SYNOSTOSES SYNDROME 3, TIMOTHY SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LOEYS-DIETZ SYNDROME 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}, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SPINOCEREBELLAR ATAXIA 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, HYPOCHONDROPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MACROCEPHALY/AUTISM SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, EHLERS-DANLOS SYNDROME, TYPE 3, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, CATARACT 16, MULTIPLE TYPES, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, CATSHL SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, NOONAN SYNDROME 9, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, SPINOCEREBELLAR ATAXIA 27, SHORT SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, BLEEDING DISORDER, PLATELET-TYPE, 15, BEARE-STEVENSON CUTIS GYRATA SYNDROME, LONG QT SYNDROME 14, PITT-HOPKINS SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MALOUF SYNDROME, 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, BURKITT LYMPHOMA, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, AXENFELD-RIEGER SYNDROME, TYPE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, NEUROCUTANEOUS MELANOSIS, SOMATIC, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, HOLT-ORAM SYNDROME, ROBINOW SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, METACARPAL 4-5 FUSION, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, HAY-WELLS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, LOEYS-DIETZ SYNDROME 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, CONE-ROD DYSTROPHY, X-LINKED, 3, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, DEJERINE-SOTTAS DISEASE, HETEROTOPIA, PERIVENTRICULAR, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, HUNTINGTON DISEASE, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 33, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, ?MYOPATHY, SCAPULOHUMEROPERONEAL, OTOPALATODIGITAL SYNDROME, TYPE I, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, COMMON VARIABLE IMMUNODEFICIENCY 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, QUESTION MARK EARS, ISOLATED, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CARDIOMYOPATHY, DILATED, 1NN, MYOPIA 23, AUTOSOMAL RECESSIVE, SELECTIVE T-CELL DEFECT, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, PAPILLARY THYROID CARCINOMA, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, QUEBEC PLATELET DISORDER, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HYPOKALEMIC PERIODIC PARALYSIS 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {LEPROSY, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, HEMOCHROMATOSIS TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SPLIT-HAND/FOOT MALFORMATION 4, {PARKINSON DISEASE 18}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ATAXIA-TELANGIECTASIA, SPINOCEREBELLAR ATAXIA 6, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPINOCEREBELLAR ATAXIA 17, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, 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, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 5, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, INCONTINENTIA PIGMENTI, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {MELANOMA, CUTANEOUS MALIGNANT, 3}, 46XY SEX REVERSAL 6, HYPERPROINSULINEMIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, THROMBOCYTOPENIA 5, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, AMYOTROPHIC LATERAL SCLEROSIS 19, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, LYMPHEDEMA, HEREDITARY, ID, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, NEUROFIBROMATOSIS, TYPE 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, PAGET DISEASE OF BONE 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, ADULT SYNDROME, NOONAN SYNDROME 7, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, 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}, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LADD SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, HEART-HAND SYNDROME, SLOVENIAN TYPE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PICK DISEASE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, APERT SYNDROME, RETINAL CONE DYSTROPHY 4, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, SPINOCEREBELLAR ATAXIA 42, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CARDIOMYOPATHY, DILATED, 1II, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, CARDIOMYOPATHY, DILATED, 1U, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, LOEYS-DIETZ SYNDROME 4, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, 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, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ATELOSTEOGENESIS, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, SLC34A1, CAV1, NFKB1, RASGRP2, HSPB1, MPDZ, MYC, POT1, MEF2C, FAS, SQSTM1, IKBKG, CACNA1B, PSEN1, CACNA2D4, NTF3, AGT, GFAP, PPARG, INSR, CDK5, SOX2, CDH1, WNT5A, FGF17, FGF3, ERBB4, RAB7A, EPS8, ADRB2, PIK3CA, NF1, HSPA9, CACNB4, PDGFRB, CREBBP, EIF4G1, PRKACG, CTNNB1, RAF1, ACTA1, ACE, RASA1, LDHA, TGFB2, ECHS1, KRAS, ERBB3, MAP2K2, FGF9, CD40, SP7, ERBB2, ZAP70, NOS3, MAPT, CACNA1D, EDNRA, SCNN1A, LEP, ACTN1, AKT2, PAK3, MECOM, TBX5, CCND1, MAP3K1, CRYAB, CACNA1F, TJP2, ICK, HTT, PDGFRA, TGFBR1, ITPR1, VEGFC, HSPD1, TLR2, TNFRSF1A, SPRY2, FGF23, BDNF, RPS6KA3, FGF5, DUSP6, BRAF, INS, PITX2, SOS2, CD44, TAB2, EDN1, FLNC, ITGB3, CACNA1G, GJA1, SMAD4, DVL3, F13A1, ETV6, PAX2, STAT1, TGFB3, CACNA1A, NFKB2, HES7, ACVR1, PPP2R1A, GRIN2B, BMP2, FGF20, BRCA1, AKT1, KCNMA1, ELANE, PRKDC, TSC2, FGFR1, PLK4, CFTR, ATXN1, RUNX1, TP53, EGFR, IKBKB, PLAU, LRPAP1, T, A2M, FN1, IL1B, PRKCG, PTEN, FGFR3, GNRH1, STAT2, AXIN1, PLG, STAT3, RUNX2, NRAS, FLNA, FGF14, NR0B2, NGF, PRKCD, HNRNPK, NR3C1, EIF2B1, AQP2, NTRK1, ATM, LMNA, TBP, FGF10, TGFB1, SPRY4, TP63, PRKACA, CACNA1C, TCF4, NOTCH1, AKT3, SOS1, EGR2, FGFR2, FGF16, IL6, PIK3R1, CDKN1B, RPL11, DCN, CACNA1S, PCNA, APP, MEF2A, FLNB, HRAS, FASLG, CDK4, ACTN2, SMAD6, SMAD3, ALB, ESR1, TGFBR2, PDGFB, SERPINE1, SHH

CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PARKINSON DISEASE 1, MYOPIA 23, AUTOSOMAL RECESSIVE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, SPINOCEREBELLAR ATAXIA 14, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THRYOID DYSHORMONOGENESIS 6, AURICULOCONDYLAR SYNDROME 3, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ATAXIA-TELANGIECTASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THYROID DYSHORMONOGENESIS 2A, HYPERPROINSULINEMIA, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CAPOS SYNDROME, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PSEUDOHYPOPARATHYROIDISM IC, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, LOEYS-DIETZ SYNDROME 3, DENYS-DRASH SYNDROME, AURICULOCONDYLAR SYNDROME 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, LONG QT SYNDROME 14, ALTERNATING HEMIPLEGIA OF CHILDHOOD, DYSTONIA-12, OSSEOUS HETEROPLASIA, PROGRESSIVE, EPIDERMAL NEVUS, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HYPOMAGNESEMIA 2, RENAL, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NOONAN SYNDROME 4, CHOREA, HEREDITARY BENIGN, {MELANOMA, CUTANEOUS MALIGNANT, 2}, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLIOMA SUSCEPTIBILITY 1, AURICULOCONDYLAR SYNDROME 1, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, BRACHYDACTYLY, TYPE A2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {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}, THYROID DYSHORMONOGENESIS 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SPINOCEREBELLAR ATAXIA 17, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, THYROID DYSHORMONOGENESIS 4, PANCREATIC CANCER/MELANOMA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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}, PENDRED'S SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NEPHROTIC SYNDROME, TYPE 4, HYPERPROLINEMIA, TYPE I, PAPILLARY THYROID CARCINOMA, THYROID DYSHORMONOGENESIS 5, THYROID DYSHORMONOGENESIS 1, MENTAL RETARDATION, X-LINKED 90, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, APOE, LRPAP1, DLG3, PPARG, SLC5A5, KCNMA1, ITPR1, IGF1, ADCY6, GNAS, PRODH, ATM, CREBBP, TBP, IL6, AGT, MTOR, PLCB1, POU1F1, PRKACA, LEP, DUOX2, SNCA, AKT1, BMP2, GNAQ, ITPR2, SOS1, PAX8, CDKN2A, ATP1A2, SLC26A4, AGRN, TG, WT1, ATP1A3, HCFC1, PRKCG, HNF1B, DUOXA2, IYD, EDN1, HRAS, LRP2, TSHB, TSHR, RB1, CFTR, SMAD3, NKX2-1, SLC9A3R1, FXYD2, ADCY1, ADCY5, TPO, PRKACG, INS, PLCB4

VENTRICULAR SEPTAL DEFECT 3, BARAITSER-WINTER SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?LICHTENSTEIN-KNORR SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, LONG QT SYNDROME 15, LI-FRAUMENI SYNDROME, MYOTONIC DYSTROPHY 1, GLUCOCORTICOID RESISTANCE, MYOPIA 23, AUTOSOMAL RECESSIVE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, SPINOCEREBELLAR ATAXIA 14, CARDIOFACIOCUTANEOUS SYNDROME, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, AMYOTROPHIC LATERAL SCLEROSIS 19, 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, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), AURICULOCONDYLAR SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, AORTIC VALVE DISEASE 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LOEYS-DIETZ SYNDROME 3, HAJDU-CHENEY SYNDROME, SPLENIC HYPOPLASIA, CAPOS SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 18, AORTIC ANEURYSM, FAMILIAL THORACIC 8, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, EHLERS-DANLOS SYNDROME, TYPE 3, PARKINSON DISEASE 1, UTERINE LEIOMYOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, HYPOPLASTIC LEFT HEART SYNDROME 2, LONG QT SYNDROME 14, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, DYSTONIA 9, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, EPIDERMAL NEVUS, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, IMMUNODEFICIENCY 36, SERKAL SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HYPOMAGNESEMIA 2, RENAL, EMBERGER SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, NOONAN SYNDROME 4, CHOREA, HEREDITARY BENIGN, BANNAYAN-RILEY-RUVALCABA SYNDROME, ATAXIA-TELANGIECTASIA, DYSTONIA-12, RUBINSTEIN-TAYBI SYNDROME 2, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOSPADIAS 1, X-LINKED, GLIOMA SUSCEPTIBILITY 1, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, AURICULOCONDYLAR SYNDROME 1, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, 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, ?MYOFIBROMATOSIS, INFANTILE 2, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, VENTRICULAR SEPTAL DEFECT 1, DARIER DISEASE, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ALAGILLE SYNDROME 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, SPINOCEREBELLAR ATAXIA 17, OHDO SYNDROME, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, PARKINSON DISEASE 4, INFANTILE MYOFIBROMATOSIS 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, OPITZ-KAVEGGIA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, 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, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LATERAL MENINGOCELE SYNDROME, ANDROGEN INSENSITIVITY, LUJAN-FRYNS SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, PAPILLARY THYROID CARCINOMA, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, ALLAN-HERNDON-DUDLEY SYNDROME, MACROCEPHALY/AUTISM SYNDROME, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, IMMUNODEFICIENCY 21, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NEPHROTIC SYNDROME, TYPE 3, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 2, ACROKERATOSIS VERRUCIFORMIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, F2, APPL1, MYC, ACTB, PLCD1, PPARG, EDN1, AKT2, ERBB4, MED13L, PIK3CA, BMP4, WNT4, IGF1, CREBBP, PRKACG, PTEN, ACE, SMARCA4, MAP2K2, NKX2-5, AR, PLCE1, NOTCH1, THRA, GATA2, ATP1A2, PIK3CD, STAT2, SLC9A1, CCND1, NKX2-1, EP300, PRKG1, NOTCH3, RB1, FXYD2, SOS2, ITGB3, CTNNB1, HNF1B, SMAD4, DVL3, STAT1, SYN1, BRCA1, NR3C1, AKT1, KRAS, ITPR2, MED12, DYRK1A, MED17, LRPAP1, GLI3, SNCA, IL1B, PRKCG, RAF1, PIK3R5, PLN, MYH6, NRAS, SLC2A1, KCNMA1, HNRNPK, ACTG1, ATR, PIK3R2, ATM, GATA4, TBP, DMPK, PLCB1, STAT3, PRKACA, NOTCH2, AKT3, SOS1, TP53, PLCG2, IL6, ATP1A3, SMAD6, HRAS, SLC16A2, SMAD3, ATP2A2, ESR1, PIK3R1, MTOR, PLCB4

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, DIHYDROPYRIMIDINURIA, GALACTOSE EPIMERASE DEFICIENCY, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, GABA-TRANSAMINASE DEFICIENCY, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, NAXOS DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ?FANCONI RENOTUBULAR SYNDROME 3, PAPILLARY THYROID CARCINOMA, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, LEOPARD SYNDROME 3, BETA-UREIDOPROPIONASE DEFICIENCY, BURKITT LYMPHOMA, 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, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, MICROPHTHALMIA, ISOLATED 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, EPILEPSY, PYRIDOXINE-DEPENDENT, {GLIOMA SUSCEPTIBILITY 9}, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, SJOGREN-LARSSON SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

TUBA8, MLYCD, ECHS1, MYC, POT1, ALDH7A1, CAD, ABAT, ALDH6A1, ALDH3A2, HIBCH, ALDH2, HADHA, DPYS, GALE, SMS, VCP, EHHADH, JUP, ALDH1A3, HGF, DPYD, GAD1, GFPT1, UPB1, ACADM, CPS1, BRAF, TUFM, HADHB

DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ACHONDROPLASIA, ?NEUTROPHILIA, HEREDITARY, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 39, CEROID LIPOFUSCINOSIS NEURONAL 6, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DYSAUTONOMIA, FAMILIAL, SICKLE CELL ANEMIA, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, CHOANAL ATRESIA AND LYMPHEDEMA, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, COFFIN-LOWRY SYNDROME, CORNEA PLANA CONGENITA, RECESSIVE, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, JOUBERT SYNDROME 5, ATRIAL SEPTAL DEFECT 8, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, INCONTINENTIA PIGMENTI, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HYPERPROINSULINEMIA, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, 46XY SEX REVERSAL 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CARDIOMYOPATHY, HYPERTROPHIC, 25, C2 DEFICIENCY, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, ATRIAL SEPTAL DEFECT 9, BENIGN FAMILIAL HEMATURIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, EPIDERMOLYSIS BULLOSA, PRETIBIAL, BURKITT LYMPHOMA, PRADER-WILLI SYNDROME, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HOLT-ORAM SYNDROME, NEUROFIBROMATOSIS, TYPE 1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PARKINSON DISEASE 4, LUSCAN-LUMISH SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, HYPOSPADIAS 1, X-LINKED, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, UV-SENSITIVE SYNDROME 2, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, 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}, ABLEPHARON-MACROSTOMIA SYNDROME, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTONASAL DYSPLASIA 2, MECONIUM ILEUS, TUBEROUS SCLEROSIS-1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, FRAGILE X SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIC, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, ?CARDIOMYOPATHY, DILATED, 2A, NOONAN SYNDROME 7, DEAFNESS, AUTOSOMAL RECESSIVE 29, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, CURRARINO SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, MARFAN LIPODYSTROPHY SYNDROME, SYMPHALANGISM, PROXIMAL, 1A, XERODERMA PIGMENTOSUM, GROUP B, SPINOCEREBELLAR ATAXIA 11, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, CARDIOMYOPATHY, DILATED, 1V, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, SPONDYLOCOSTAL DYSOSTOSIS 5, MULTIPLE FIBROADENOMAS OF THE BREAST, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLUCOCORTICOID DEFICIENCY 2, OPTIC ATROPHY 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, ?SECKEL SYNDROME 6, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, NEMALINE MYOPATHY 5, AMISH TYPE, KABUKI SYNDROME 2, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, PERIODIC FEVER, FAMILIAL, CONGENITAL DISORDER OF DEGLYCOSYLATION, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, CINCA SYNDROME, SOTOS SYNDROME 1, RENAL TUBULAR DYSGENESIS, ?SPINOCEREBELLAR ATAXIA 41, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, PSEUDOHYPOALDOSTERONISM, TYPE I, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, SEGAWA SYNDROME, RECESSIVE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, IMMUNODEFICIENCY 36, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, ?INFANTILE LIVER FAILURE SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 56, CRIGLER-NAJJAR SYNDROME, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, CATARACT 5, MULTIPLE TYPES, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 2}, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ROBINOW SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, BRACHYDACTYLY, TYPE B2, PENDRED'S SYNDROME, TRANSIENT BULLOUS OF THE NEWBORN, BRANCHIOOCULOFACIAL SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, RETINITIS PIGMENTOSA 11, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, 3MC SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ERYTHROCYTOSIS, FAMILIAL, 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, FAILURE OF TOOTH ERUPTION, PRIMARY, SJOGREN-LARSSON SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, PSEUDOACHONDROPLASIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SPHEROCYTOSIS, TYPE 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, DIARRHEA 6, LONG QT SYNDROME 13, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), LYMPHEDEMA, HEREDITARY, IA, PARTINGTON SYNDROME, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, ANGIOEDEMA, HEREDITARY, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, WAARDENBURG SYNDROME, TYPE 3, METATROPIC DYSPLASIA, PARIETAL FORAMINA 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, HARTSFIELD SYNDROME, PNEUMOTHORAX, PRIMARY SPONTANEOUS, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MELNICK-FRASER SYNDROME, GREENBERG SKELETAL DYSPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, VAN DER WOUDE SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PHELAN-MCDERMID SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SICK SINUS SYNDROME 1, OOCYTE MATURATION DEFECT 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, [BOMBAY PHENOTYPE], CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, PAPILLORENAL SYNDROME, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, ATRIAL SEPTAL DEFECT 5, IMMUNODEFICIENCY 14, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MEIER-GORLIN SYNDROME 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATRIAL FIBRILLATION 15, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, OPITZ-KAVEGGIA SYNDROME, FRASIER SYNDROME, AGAMMAGLOBULINEMIA 4, 46,XX SEX REVERSAL, TYPE 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, GILLESPIE SYNDROME, MYHRE SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CUTIS LAXA, AD, BRACHYDACTYLY, TYPE A1, SPERMATOGENIC FAILURE 7, STEATOCYSTOMA MULTIPLEX, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, 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, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, LONG QT SYNDROME-3, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, THROMBOCYTOPENIA 5, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MARSHALL SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, LYMPHEDEMA, HEREDITARY, ID, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, IMMUNODEFICIENCY 21, HEPATIC LIPASE DEFICIENCY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, GLUCOCORTICOID RESISTANCE, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), [EOSINOPHIL PEROXIDASE DEFICIENCY], TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, HUNTINGTON DISEASE, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, CONE-ROD DYSTROPHY, RETINITIS PIGMENTOSA, JUVENILE, LEBER CONGENITAL AMAUROSIS 4, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, UV-SENSITIVE SYNDROME 1, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, MENTAL RETARDATION, X-LINKED 46, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, FUMARASE DEFICIENCY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, HUNTINGTON DISEASE-LIKE 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, PLATELET GLYCOPROTEIN IV DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, EPISODIC ATAXIA, TYPE 6, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ECTOPIA LENTIS, FAMILIAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {PARKINSON DISEASE 18}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, DENTIN DYSPLASIA, TYPE II, RENPENNING SYNDROME, SPERMATOGENIC FAILURE 10, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, CARDIOMYOPATHY, HYPERTROPHIC, 17, 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, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, ATAXIA-OCULOMOTOR APRAXIA 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, IMMUNODEFICIENCY 46, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, SUPRANUCLEAR PALSY, PROGRESSIVE, RETINITIS PIGMENTOSA-40, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, DEAFNESS, AUTOSOMAL DOMINANT 4A, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, AICARDI-GOUTIERES SYNDROME 7, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LONG QT SYNDROME 15, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 38, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, KERATOSIS PALMOPLANTARIS STRIATA I, AD, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, CARASIL SYNDROME, DANON DISEASE, CORNELIA DE LANGE SYNDROME 5, BRACHIOOTIC SYNDROME 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 10, MULTIPLE SYNOSTOSES SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, ?REYNOLDS SYNDROME, ?STEEL SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, INSOMNIA, FATAL FAMILIAL, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MICROPHTHALMIA, SYNDROMIC 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, LARSEN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, C3 DEFICIENCY, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ?OPTIC ATROPHY 9, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, NAXOS DISEASE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, LYSYL HYDROXYLASE 3 DEFICIENCY, PARAGANGLIOMAS 3, IMMUNODEFICIENCY 12, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, CULLER-JONES SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, RETINITIS PIGMENTOSA 59, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?WEBB-DATTANI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, WIEDEMANN-STEINER SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ELLIPTOCYTOSIS-2, EIKEN SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOKALEMIC PERIODIC PARALYSIS 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HMG-COA SYNTHASE-2 DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, NAIL-PATELLA SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, IMAGE SYNDROME, BARBER-SAY SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, HYPERALDOSTERONISM, FAMILIAL, TYPE III, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, CORTICAL MALFORMATIONS, OCCIPITAL, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, KARTAGENER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, OSTEOLYSIS, FAMILIAL EXPANSILE, STICKLER SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), AMELOGENESIS IMPERFECTA, TYPE IH, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HOLOPROSENCEPHALY-5, DIAMOND-BLACKFAN ANEMIA 3, IMMUNODEFICIENCY 24, [ECULIZUMAB, POOR RESPONSE TO], EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, ?MIRROR MOVEMENTS 3, AORTIC ANEURYSM, FAMILIAL THORACIC 4, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, CONE-ROD DYSTROPHY, X-LINKED, 3, NIJMEGEN BREAKAGE SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TREACHER COLLINS SYNDROME 2, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, ARTHROGRYPOSIS, DISTAL, TYPE 8, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, PERRAULT SYNDROME 4, PYCNODYSOSTOSIS, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, PULMONARY HYPERTENSION, PRIMARY, 2, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, BRACHYDACTYLY, TYPE C, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SHPRINTZEN-GOLDBERG SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CARDIOMYOPATHY, DILATED, 1NN, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, CILIARY DYSKINESIA, PRIMARY, 33, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, HEMOCHROMATOSIS, TYPE 2B, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, BRACHYDACTYLY, TYPE A1, C, CRANIOSYNOSTOSIS, TYPE 2, NOONAN SYNDROME 9, DENYS-DRASH SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, SEBASTIAN SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, TARSAL-CARPAL COALITION SYNDROME, FRAXE, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BEHR SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, CORNEAL DYSTROPHY, AVELLINO TYPE, METACARPAL 4-5 FUSION, CORTISONE REDUCTASE DEFICIENCY 2, LI-FRAUMENI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, RETINITIS PIGMENTOSA 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, KNOBLOCH SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, VENTRICULAR SEPTAL DEFECT 3, {MELANOMA, CUTANEOUS MALIGNANT, 3}, IMMUNODEFICIENCY 30, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, PRIMARY LATERAL SCLEROSIS, JUVENILE, NOONAN SYNDROME 10, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MENTAL RETARDATION, X-LINKED 19, BRANCHIOOTIC SYNDROME 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ICHTHYOSIS WITH CONFETTI, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEUKODYSTROPHY, HYPOMYELINATING, 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, {OROFACIAL CLEFT 6}, VON WILLEBRAND DISEASE, PLATELET-TYPE, ?PARKINSONISM WITH SPASTICITY, X-LINKED, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, SENIOR-LOKEN SYNDROME 9, HYPEREKPLEXIA HEREDITARY, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CARDIOMYOPATHY, DILATED, 1U, CEROID LIPOFUSCINOSIS, NEURONAL, 10, PULMONARY VENOOCCLUSIVE DISEASE 2, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, BASAL CELL NEVUS SYNDROME, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, WAARDENBURG SYNDROME, TYPE 4A, ?OSTEOGENESIS IMPERFECTA, TYPE X, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, LOEYS-DIETZ SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, IMMUNODEFICIENCY 43, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, TOENAIL DYSTROPHY, ISOLATED, SPINOCEREBELLAR ATAXIA 21, CARDIOMYOPATHY, DILATED, 1HH, SPINOCEREBELLAR ATAXIA 23, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSON DISEASE 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {BLEPHAROSPASM, PRIMARY BENIGN}, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MYOTONIC DYSTROPHY 1, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, ?CHARGE SYNDROME, CHARGE SYNDROME, JOUBERT SYNDROME 4, COMPLEMENT FACTOR H DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, NASU-HAKOLA DISEASE, ALPORT SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, [PREMATURE CHROMATID SEPARATION TRAIT], OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, 46XY SEX REVERSAL 6, MAY-HEGGLIN ANOMALY, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AMINOACYLASE 1 DEFICIENCY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PORENCEPHALY 2, VON WILLIBRAND DISEASE, TYPE 3, ACROMICRIC DYSPLASIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 12, NEPHROTIC SYNDROME, TYPE 3, PARAGANGLIOMAS 4, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, RETINITIS PIGMENTOSA 41, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, IMMUNODEFICIENCY 9, RETINITIS PIGMENTOSA 60, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 37, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, DILATED, 1JJ, INTERSTITIAL LUNG AND LIVER DISEASE, ZIMMERMANN-LABAND SYNDROME 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MYOPATHY, DISTAL, 4, STICKLER SYNDROME, TYPE I, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, BARDET-BIEDL SYNDROME 3, SPINOCEREBELLAR ATAXIA 28, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, CALCIFICATION OF JOINTS AND ARTERIES, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, TOOTH AGENESIS, SELECTIVE, 7, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, LEBER OPTIC ATROPHY AND DYSTONIA, BIRT-HOGG-DUBE SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ?SPASTIC PARAPLEGIA 63, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, MUCKLE-WELLS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MULTIPLE ENDOCRINE NEOPLASIA 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, IVIC SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, WEAVER SYNDROME, PACHYONYCHIA CONGENITA 2, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, GLYCINE ENCEPHALOPATHY, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, CORNELIA DE LANGE SYNDROME 3, SED CONGENITA, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, {LEPROSY, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 4, DEAFNESS, AUTOSOMAL RECESSIVE 24, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LISSENCEPHALY 3, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INFANTILE MYOFIBROMATOSIS 1, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, VENTRICULAR SEPTAL DEFECT 2, DIABETES INSIPIDUS, NEPHROGENIC, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, CILIARY DYSKINESIA, PRIMARY, 16, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TIETZ ALBINISM-DEAFNESS SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 7, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RETINAL CONE DYSTROPHY 4, ATAXIA-OCULOMOTOR APRAXIA 3, KABUKI SYNDROME 1, ATRIAL FIBRILLATION, FAMILIAL, 10, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, ATELOSTEOGENESIS, TYPE III, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, VERHEIJ SYNDROME, FACTOR V DEFICIENCY, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, MIRROR MOVEMENTS 1, {PARKINSON DISEASE 8}, C8 DEFICIENCY, TYPE II, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LONG QT SYNDROME 12, ODONTOONYCHODERMAL DYSPLASIA, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, DYSKERATOSIS CONGENITA, X-LINKED, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, PORENCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, MANDIBULOACRAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, SPINOCEREBELLAR ATAXIA 27, IMMUNODEFICIENCY 35, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, VAN BUCHEM DISEASE, TYPE 2, BRUGADA SYNDROME 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, BOHRING-OPITZ SYNDROME, WRINKLY SKIN SYNDROME, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MENTAL RETARDATION, X-LINKED 102, CATARACT 16, MULTIPLE TYPES, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SPLIT-HAND/FOOT MALFORMATION 6, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, DOWLING-DEGOS DISEASE 1, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SPEECH-LANGUAGE DISORDER-1, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CRANIOSYNOSTOSIS 3, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, WAARDENBURG SYNDROME, TYPE 4C, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, PELGER-HUET ANOMALY, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, RETINITIS PIGMENTOSA 13, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, ATRIAL SEPTAL DEFECT 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AGAMMAGLOBULINEMIA 1, BRACHYDACTYLY, TYPE A2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, IMMUNODEFICIENCY, COMMON VARIABLE, 13, MYOPATHY, MYOFIBRILLAR, 4, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, MEIER-GORLIN SYNDROME 2, POROKERATOSIS 3, MULTIPLE TYPES, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, [GILBERT SYNDROME], DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MYOPIA 6, PARKINSON DISEASE 6, EARLY ONSET, MYASTHENIC SYNDROME, CONGENITAL, 16, HYPERLYSINEMIA, SMITH-MAGENIS SYNDROME, MENTAL RETARDATION, X-LINKED 72, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT, TARP SYNDROME, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE XVII, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DEAFNESS, AUTOSOMAL DOMINANT 13, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, UROFACIAL SYNDROME 1, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2, IMMUNODEFICIENCY 20, HETEROTOPIA, PERIVENTRICULAR, PARKINSON DISEASE 21, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, ?RETINITIS PIGMENTOSA 67, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BONE MARROW FAILURE SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, COMPLEMENT FACTOR D DEFICIENCY, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, MACHADO-JOSEPH DISEASE, DEAFNESS, AUTOSOMAL DOMINANT 23, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, ALBINISM, OCULOCUTANEOUS, TYPE III, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DUANE-RADIAL RAY SYNDROME, MYXOMA, INTRACARDIAC, EPIDERMOLYTIC HYPERKERATOSIS, DEAFNESS, AUTOSOMAL RECESSIVE 37, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, {AUTISM, SUSCEPTIBILITY TO, 18}, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, THYROID DYSHORMONOGENESIS 2A, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, CARDIOMYOPATHY, DILATED, 1E, OLIGODONTIA-COLORECTAL CANCER SYNDROME, DIAMOND-BLACKFAN ANEMIA 8, CARDIOMYOPATHY, HYPERTROPHIC, 12, VELOCARDIOFACIAL SYNDROME, PRIMARY PULMONARY HYPERTENSION, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, IMMUNODEFICIENCY 19, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, COFFIN-SIRIS SYNDROME 3, STRIATONIGRAL DEGENERATION, INFANTILE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), CYLINDROMATOSIS, FAMILIAL, EPIDERMAL NEVUS, HYPOMAGNESEMIA 6, RENAL, VAN DEN ENDE-GUPTA SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ?OSTEOGENESIS IMPERFECTA, TYPE XII, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?IMMUNODEFICIENCY 25, EVEN-PLUS SYNDROME, [BONE MINERAL DENSITY VARIABILITY 1], LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, ACNE INVERSA, FAMILIAL, 1, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, KINDLER SYNDROME, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 57, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPONDYLOPERIPHERAL DYSPLASIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, DYSTONIA 25, 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}, ANDERSEN SYNDROME, MICROPHTHALMIA, ISOLATED 8, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, EPSTEIN SYNDROME, 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, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, DEAFNESS, AUTOSOMAL RECESSIVE 53, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, C4A DEFICIENCY, CEREBELLOFACIODENTAL SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, SESAME SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, IMMUNODEFICIENCY 42, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, CHONDRODYSPLASIA, GREBE TYPE, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, DEAFNESS, AUTOSOMAL DOMINANT 25, ATRIAL FIBRILLATION, FAMILIAL, 6, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, XERODERMA PIGMENTOSUM, GROUP D, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY 15, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, PEUTZ-JEGHERS SYNDROME, COCKAYNE SYNDROME, TYPE B, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, FECHTNER SYNDROME, ?ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, LEBER CONGENITAL AMAUROSIS 9, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OPSISMODYSPLASIA, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, DIGEORGE SYNDROME, MEVALONIC ACIDURIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, LEPRECHAUNISM, CD8 DEFICIENCY, FAMILIAL, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, FOVEAL HYPOPLASIA 1, PARKINSONISM-DYSTONIA, INFANTILE, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 9, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, AURICULOCONDYLAR SYNDROME 2, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, LIMB-MAMMARY SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, OHDO SYNDROME, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, BRACHYDACTYLY, TYPE A1, D, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, POLYCYTHEMIA VERA, SOMATIC, TOOTH AGENESIS, SELECTIVE, 3, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PARKINSON DISEASE, JUVENILE, TYPE 2, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, LEUKODYSTROPHY, HYPOMYELINATING, 12, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, DEAFNESS, AUTOSOMAL RECESSIVE 70, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, PROUD SYNDROME, ALAGILLE SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 2, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ATRIOVENTRICULAR SEPTAL DEFECT 5, RENAL ADYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, ACNE INVERSA, FAMILIAL, 2, LONG QT SYNDROME 1, SPERMATOGENIC FAILURE 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, KEPPEN-LUBINSKY SYNDROME, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HETEROTAXY, VISCERAL, 5, SPINOCEREBELLAR ATAXIA 5, EMBERGER SYNDROME, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ADAMS-OLIVER SYNDROME 6, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, WELANDER DISTAL MYOPATHY, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, EPISODIC ATAXIA, TYPE 2, STROMME SYNDROME, SINGLETON-MERTEN SYNDROME 1, ACNE INVERSA, FAMILIAL, 3, {GLIOMA SUSCEPTIBILITY 9}, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, TRIGONOCEPHALY 1, MENTAL RETARDATION, X-LINKED 29 AND OTHERS, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, GLIOMA SUSCEPTIBILITY 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, SPINOCEREBELLAR ATAXIA 36, AMELOGENESIS IMPERFECTA, TYPE IA, URBACH-WIETHE DISEASE, COWCHOCK SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MIRROR MOVEMENTS 2, HOLOPROSENCEPHALY-2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SPINOCEREBELLAR ATAXIA 6, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, PANCREATIC AGENESIS 1, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, RETINITIS PIGMENTOSA 1, CRIGLER-NAJJAR SYNDROME, TYPE II, CORNELIA DE LANGE SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, QUESTION MARK EARS, ISOLATED, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, AGAMMAGLOBULINEMIA 2, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, MACROCEPHALY/AUTISM SYNDROME, NEUROFIBROMATOSIS, TYPE 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, 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, ?MYOFIBROMATOSIS, INFANTILE 2, DARIER DISEASE, PCWH SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, GLYCOGEN STORAGE DISEASE X, WILSON-TURNER SYNDROME, ?SPERMATOGENIC FAILURE 13, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ALEXANDER DISEASE, CATARACT 21, MULTIPLE TYPES, PROPERDIN DEFICIENCY, X-LINKED, TREACHER COLLINS SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, NEPHROTIC SYNDROME, TYPE 12, MENTAL RETARDATION, X-LINKED 90, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, RETINITIS PIGMENTOSA 70, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, AMYOTROPHIC LATERAL SCLEROSIS 20, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, SELECTIVE T-CELL DEFECT, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 1, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DYSTONIA-11, MYOCLONIC, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, CANDIDIASIS, FAMILIAL, 9, {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}, FRONTOTEMPORAL DEMENTIA, POROKERATOSIS 7, MULTIPLE TYPES, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, BRUCK SYNDROME 2, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MACULAR DYSTROPHY, RETINAL, 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADAMS-OLIVER SYNDROME 5, ATRIAL FIBRILLATION, FAMILIAL, 3, BECKWITH-WIEDEMANN SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, IMMUNODEFICIENCY 44, BRUNNER SYNDROME, OVARIAN HYPERSTIMULATION SYNDROME, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, NOONAN SYNDROME 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, LIANG DISTAL MYOPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 6, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, RETINITIS PIGMENTOSA 45, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MYOPATHY, DISTAL, TATEYAMA TYPE, PLEUROPULMONARY BLASTOMA, COENZYME Q10 DEFICIENCY, PRIMARY, 3, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, DYSTONIA-PARKINSONISM, X-LINKED, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 39, IMMUNODEFICIENCY, COMMON VARIABLE, 4, OSTEOGENESIS IMPERFECTA, TYPE XV, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, PICK DISEASE, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, BRACHYOLMIA TYPE 3, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ANEMIA, SIDEROBLASTIC, 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, ATELOSTEOGENESIS, TYPE I, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, WAARDENBURG SYNDROME, TYPE 2D, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, CORNEAL DYSTROPHY, CONGENITAL STROMAL, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MEIER-GORLIN SYNDROME 5, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, RENAL CYSTS AND DIABETES SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FOLATE MALABSORPTION, HEREDITARY, RETICULATE ACROPIGMENTATION OF KITAMURA, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, TOOTH AGENESIS, SELECTIVE, 4, BROOKE-SPIEGLER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, LONG QT SYNDROME 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, SADDAN, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, DYSTONIA 9, MYELOPEROXIDASE DEFICIENCY, STICKLER SYNDROME, TYPE II, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, TROYER SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, OPTIC ATROPHY PLUS SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CLEFT PALATE, ISOLATED, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, LACTASE PERSISTENCE/NONPERSISTENCE, AVASCULAR NECROSIS OF THE FEMORAL HEAD, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, DEAFNESS, AUTOSOMAL DOMINANT 64, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 2, IMMUNODEFICIENCY 11, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTRICHOSIS 8, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, C1Q DEFICIENCY, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, COMPLEMENT FACTOR I DEFICIENCY, PAPILLARY THYROID CARCINOMA, HYPOBETALIPOPROTEINEMIA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, AICARDI-GOUTIERES SYNDROME 6, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, NEUROCUTANEOUS MELANOSIS, SOMATIC, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, LOEYS-DIETZ SYNDROME 4, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, ACROKERATOSIS VERRUCIFORMIS, REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, POPLITEAL PTERYGIUM SYNDROME 1, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PARKINSON DISEASE 19, JUVENILE-ONSET, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DEJERINE-SOTTAS DISEASE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AORTIC VALVE DISEASE 2, DEAFNESS, AUTOSOMAL RECESSIVE 68, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PRION DISEASE WITH PROTRACTED COURSE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, GIANT AXONAL NEUROPATHY-1, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPLENIC HYPOPLASIA, USHER SYNDROME TYPE 3B, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DIAMOND-BLACKFAN ANEMIA 6, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ENCEPHALOPATHY, NEONATAL SEVERE, FILS SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HYPOPLASTIC LEFT HEART SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, CHYLOMICRON RETENTION DISEASE, STIFF SKIN SYNDROME, {GLIOBLASTOMA 3}, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, AXENFELD-RIEGER SYNDROME, TYPE 1, SENIOR-LOKEN SYNDROME 6, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, C8 DEFICIENCY, TYPE I, JERVELL AND LANGE-NIELSEN SYNDROME 1, {PSORIASIS SUSCEPTIBILITY 1}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, PARAGANGLIOMAS 5, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, VITAMIN D-DEPENDENT RICKETS, TYPE I, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, LEFT VENTRICULAR NONCOMPACTION 7, COFFIN-SIRIS SYNDROME 4, DEAFNESS, AUTOSOMAL RECESSIVE 35, CRYOHYDROCYTOSIS, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, NIEMANN-PICK DISEASE, TYPE B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, CORNELIA DE LANGE SYNDROME 1, {EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO}, {EPILEPSY, IDIOPATHIC GENERALIZED, 10}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, EHLERS-DANLOS SYNDROME, TYPE 3, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, FAMILIAL MEDITERRANEAN FEVER, AD, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, NEPHROTIC SYNDROME, TYPE 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, MASP2 DEFICIENCY, MYOCLONUS, FAMILIAL CORTICAL, CEREBROOCULOFACIOSKELETAL SYNDROME 4, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, SORSBY FUNDUS DYSTROPHY, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MASA SYNDROME, CRASH SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HUNTINGTON DISEASE-LIKE 2, BRACHYDACTYLY, TYPE B1, ACHROMATOPSIA 7, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, FRASER SYNDROME, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, CEREBROCOSTOMANDIBULAR SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, VESICOURETERAL REFLUX 8, HERMANSKY-PUDLAK SYNDROME 1, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, ?HYPERPROLACTINEMIA, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, AGAMMAGLOBULINEMIA, X-LINKED 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOHYPOPARATHYROIDISM IC, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, DU PAN SYNDROME, LIEBENBERG SYNDROME, DIGITAL CLUBBING, ISOLATED CONGENITAL, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, HYPERFERRITINEMIA-CATARACT SYNDROME, PYRUVATE KINASE DEFICIENCY, LUJAN-FRYNS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, CATSHL SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, JACKSON-WEISS SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, KOOLEN-DE VRIES SYNDROME, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, PARIETAL FORAMINA 1, FACTOR X DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, SPLIT-HAND/FOOT MALFORMATION 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SCHOPF-SCHULZ-PASSARGE SYNDROME, SHORT QT SYNDROME 2, ?DEAFNESS, X-LINKED 6, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, TREMOR, HEREDITARY ESSENTIAL, 4, CHOREA, HEREDITARY BENIGN, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SENIOR-LOKEN SYNDROME-1, CEREBRAL AMYLOID ANGIOPATHY, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, BALLER-GEROLD SYNDROME, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, KNIEST DYSPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, HYPERPARATHYROIDISM, NEONATAL, THYROID DYSHORMONOGENESIS 3, CALCIUM OXALATE UROLITHIASIS, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, PARKINSON DISEASE 20, EARLY-ONSET, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ANGIOEDEMA, HEREDITARY, TYPES I AND II, NEPHROTIC SYNDROME, TYPE 6, WOLCOTT-RALLISON SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, PAGET DISEASE OF BONE 3, MENTAL RETARDATION, X-LINKED 58, DEAFNESS, AUTOSOMAL RECESSIVE 84A, THROMBOCYTOPENIA 4, UTERINE LEIOMYOMA, CARDIOMYOPATHY, HYPERTROPHIC, 7, MECKEL SYNDROME 4, MYOTONIC DYSTROPHY 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TCF12, CALM1, TSC2, RPL5, PHOX2B, LRPAP1, LAMB1, BCKDHB, SQSTM1, PITX1, RASGRP2, HSPB1, UCP1, NGLY1, PKD1, CD3E, GP1BA, LBR, CUL3, WNT5A, IGF2R, TWIST1, COL3A1, CR2, ATP6V1B1, NDUFS2, FTL, PHEX, KRIT1, POR, TUBA1A, DOCK7, LRRK2, ITGA8, HBB, SLC6A3, CASR, PTPRO, PCYT1A, CDC6, PAFAH1B1, KDM6A, POLE, B2M, AKT2, CHD8, PLCE1, NOG, VARS2, DST, ITGA3, IL1B, RAB7A, JPH1, PNPT1, GAS8, HPGD, FZD4, WNK1, SGCG, PDGFRA, GFI1B, C1QB, ATN1, HPSE2, CYP2C19, CREBBP, PTPRQ, TNNT1, BCKDHA, RPS24, MRPL3, DYNC2H1, NONO, ALS2, VLDLR, TPM1, LAMP2, KL, NFKB2, ERBB3, COPA, SOX2, CALCR, ISG15, ERBB2, NDUFA1, CD79A, GNAS, MT-ND4, COMP, DNMT3A, THRA, CARD9, CBS, BUB1B, CIITA, SKIV2L, TNNI3, CFP, MT-ND6, TAF6, SDC3, TNXB, PIK3CD, STAT2, MYLK, ARHGDIA, IFNG, MRE11A, AIFM1, STT3A, IFNGR1, NCSTN, CCND1, TALDO1, C4A, JAK2, TPM2, EFTUD2, SPARC, SHANK3, AP1S2, HNF4A, VPS33B, MIB1, ITPR1, GALNT3, HSPD1, ROR2, FUS, HTT, NOL3, NKX2-5, EZH2, ATP6V1B2, GAD1, RYR1, PPP2R2B, PGAM2, SUCLG1, RAG2, CHD7, ADRB3, TP63, DUSP6, CYB5R3, TYK2, RNF216, SMC3, NDUFS7, IGKC, MT-CO1, GATA1, TBX1, CAV3, BANF1, TCIRG1, ALDOA, AGL, KCNJ6, CTNNB1, IL2RA, NDUFS3, HNF1B, NDUFA12, BCS1L, NLGN3, CTSK, CSF2RB, PDYN, CLASP1, GDNF, CEP290, ATXN3, TRAPPC2, IGHM, HDAC6, SLC2A1, LAMA3, ARG1, CHRNA1, PQBP1, HSF4, GLDC, GP6, CASQ2, FGF14, HES7, TNFRSF13C, NDUFA2, SSR4, RFXAP, DDR2, RIPK4, TAPBP, AIP, PPIB, UBA1, RAD51, GNAO1, DIAPH1, BRIP1, TNFRSF4, DYRK1A, NHP2, HOXA11, LIPE, PINK1, HGF, MYH14, CNGB1, KIF11, RECQL4, CSNK1D, DNAH1, PEX13, PDE6G, FANCA, HSPA9, ORC1, EFNB1, KAT6A, RAF1, ECHS1, BCR, HAMP, CRYAB, NOD2, SDHA, ZEB2, PER2, TNFRSF13B, EYA1, POLA1, DAG1, PER3, EIF2B1, ZFPM2, IRF8, TNFRSF11A, SLC9A1, MASP1, IKZF1, ZNF423, SLC46A1, HTR1A, INPPL1, LAMC2, NPHP1, LAMA2, AP4M1, CXCR4, SOS2, GATA4, PTPN14, SPG7, RARS, UQCRC2, STAT3, MT-CO2, IGLL1, SOD1, DNAL4, WNT10A, SCARF2, SDHD, LHB, RASA1, PTPRC, COL4A3, COL5A2, SALL4, PAK3, ANK3, FCGR3A, HLA-DQB1, BDNF, SNRPB, FH, CALR, POT1, TBP, MEF2A, PSENEN, ATF6, GHRL, COL1A2, EPS8, CDSN, POLR3B, CSRP3, PNPLA2, ALB, FGF10, TSC1, ADCY1, HRAS, PAX4, NEFH, FGF5, ACTG2, SGCA, DMPK, WNT10B, TUBA8, FSHB, PEX14, SEC23A, PARK7, DSP, SPRY4, APOB, LARS, MMP1, MAP2K2, ADRB2, VPS11, F5, DDC, GRN, RPS7, PSEN1, LAMC3, JPH3, PHF8, DPH1, ST3GAL3, GFAP, COX6A1, MFN2, NLRC4, RANBP2, BMP4, AKR1C2, WNT7A, ACAN, ITGA2B, BMP2, NDUFB3, TAF4B, PRKDC, KMT2A, NDUFS4, SLC26A4, MYO1E, WT1, ERBB4, COL4A5, IKBKG, SPTAN1, PROK2, DNAH8, GDF5, DES, MT-CO3, NBN, PCNT, PRF1, ACY1, CDC73, TYROBP, CD3D, MBL2, AGRN, MITF, KCNMB1, MYH3, CAPN3, HSD11B1, CYC1, MVD, NR2E3, UQCRB, CLDN19, NKX2-1, IL2RG, MT-ND3, MAOA, PLCB1, SF3B4, SBF1, SGCD, EPX, SOX9, SLCO1B1, LDHA, PLS3, DNAI2, CNTN2, TRPC3, GABRA1, HLA-C, NPPA, GABRD, ADCY6, SLC17A8, SP7, P4HB, PDE8B, IL12B, ZIC2, NOTCH1, CYP1B1, MYCN, MYO5A, CABP4, PIGT, SRP72, WAS, EDNRA, PRKAG2, MEF2C, NR2F2, CYBB, SCARB2, EGR2, MYBPC3, CFL2, VCAN, ST14, PAX9, MSX2, C5, NLRP3, FSHR, HDAC8, MAFB, C2, CD247, RBM10, FUT2, COL4A6, PIKFYVE, TIMP3, LIPC, KAT6B, GPX4, MEN1, A2M, FGFR3, HARS, CACNA1A, TIA1, CDKN3, IGFBP7, ACTA2, TNC, PRKG1, RB1, AICDA, PLOD2, TAP2, GPHN, IL17RA, RARB, BRAF, SNAP25, GCK, MALT1, RFX5, SRD5A2, NCF1, SMAD6, ALPL, TSG101, DNM1, MT-ATP6, COX7B, ADAR, GRIN2B, KCNJ5, KRT5, F13A1, FLT4, SMAD9, F12, KIF2A, CTCF, KLC2, EEF2, SART3, AASS, UGT1A4, PLCB4, COL4A4, TNFAIP3, COL1A1, ALDH3A2, CRB2, HOXC13, NDN, NR1I3, TNFRSF11B, AKAP9, DRD2, KANSL1, EIF4G1, PCSK1, FGFR1, FOXP1, DVL1, PARK2, APOA1, RAG1, EGFR, RB1CC1, HCFC1, WNT4, LRP2, IKBKB, CYCS, IL31RA, PRKCD, SKI, LHX4, SNTA1, MET, AQP2, SNCA, PSTPIP1, HAX1, KCNQ2, CHEK2, EIF2AK4, NF1, TJP2, QDPR, DSG2, MAF, USH2A, IL12RB1, ESRRB, TUBB2A, ITGA6, DYNC1H1, TSPAN7, UMOD, MPDZ, SCYL1, TCAP, NDUFV1, POLD1, JUP, MYH6, BARD1, AR, DLG3, CHRNE, C8A, SETX, NODAL, PTS, PDHX, IL7R, XPR1, TRAC, ACTG1, ATP2A2, JAGN1, ASCL1, PRKCSH, RORC, ITGB4, IFNAR2, TYMP, PRPF6, FTH1, KMT2D, DDX58, EIF2AK3, SPTLC1, STAT1, APPL1, EXOC8, MAP3K1, CACNA1C, ATXN1, SLC34A1, NOTCH2, PLG, TNPO3, EFEMP2, TAF2, BLM, DNMT1, FCGR2B, ACTN4, EPM2A, LRP5, NDUFB11, PIK3R1, PHB, PAXIP1, DCN, PCSK9, PCNA, SERPINA1, NEFL, POLR1C, GATAD2B, ACTN1, APC, PDE4D, PMPCA, PDE3A, CD8A, AP2S1, AXIN2, DRD3, ADA, DSPP, ALOXE3, PROM1, SMAD3, TUBB8, SLC25A20, ADAM17, HSPG2, CFD, SURF1, F10, BGLAP, SERPINE1, MTOR, PDX1, DICER1, PEX5, DYRK1B, C3AR1, SEPT12, F2, LAMA1, SPTA1, KCNJ10, CTNNA1, PRPF31, IGBP1, SALL1, TPI1, RAD21, CST3, IFIH1, AKT3, FAS, CDK6, NDUFA9, CENPF, GFI1, MSX1, PLCD1, DEAF1, MUC1, ACTN2, CYBA, MAG, AGT, SEPT9, MCM6, GNAI3, LEP, CDK5, CTNNA3, NOTCH3, PPP1R3A, KDM1A, DNAH5, CDH1, MED25, SMN2, EIF4A3, SOS1, NEB, FRZB, NCF2, STK11, CITED2, EGLN1, PRPF8, FMR1, IL21R, ITCH, BCOR, COL2A1, ARX, FBP1, LAMB2, TTBK2, COL10A1, GATA2, NOP56, COX8A, PIK3CA, PTPN11, HOXD10, GNAL, RYR2, WNT1, PRKCG, JAG1, HNRNPA1, GFPT1, C1QC, CD59, CNBP, FZD6, GRID2, HK1, ECM1, GATA3, TFRC, PRKACG, RBPJ, CTSD, LDB3, ARNT2, ACTA1, VRK1, NPHS1, ACTB, GRIP1, SMARCA4, C1QA, RUNX1, CBL, TWIST2, LZTR1, FIBP, ABCB11, STUB1, AIPL1, SMARCE1, IGF2, DSC2, PGK1, NOS3, CTPS1, DCLRE1C, APTX, MAPT, CAD, IL21, MLH1, ERCC6, ACVRL1, SCNN1A, EDA, CEL, ATP1A2, NTRK1, RAI1, HNRNPK, KRT1, MSH6, HRG, ABCA1, TNNT2, DCX, PLOD3, ORAI1, TUBB4A, LMNA, MMP13, GNAQ, CACNA1F, ACP5, ANLN, KIT, MPC1, MCPH1, SFTPA2, SUCLA2, EEF1A2, TUBB1, C3, ERCC5, DNAI1, TNFRSF1A, TUBB2B, TMEM173, SLC5A7, SPRY2, TBX3, GUCY2C, ESR1, GSC, SMC1A, POLR1D, CLDN16, RPS6KA3, DKC1, ERCC8, VCP, AIRE, ALX4, INS, DNM1L, CDON, PIK3R2, TYRP1, CYLD, COL7A1, TINF2, FCGR2A, GNB4, CD44, ITGB3, MT-CYB, SMPD1, RPS14, GLI3, HSD17B10, GPC3, PDE11A, FOXP2, SLC22A5, PPM1D, VEGFC, PAX2, LMX1B, TSHB, HLA-DRB1, TLR2, KRAS, FLNA, SYN1, CNTN1, TGFB1, VHL, OTX2, IL10RB, RAPSN, ARL6, TG, RDX, FKBP14, BRCA1, ITGB2, NR3C1, FN1, CNNM2, KCNMA1, ITPR2, FLNB, FHL1, DIABLO, FOXC2, KLF1, COL18A1, MNX1, KERA, TUBGCP4, FBN1, THBS4, ALDH1A3, ACO2, MT-ND1, NR5A1, DCTN1, COL25A1, RPSA, UQCRQ, ORC4, DBT, EIF2B2, RHO, FGF17, PDE6B, TERT, TTN, TSHR, RPS19, MYC, ATIC, PTEN, PNKP, TRPV4, PAX3, SLC9A3R1, CLEC7A, LARS2, CFH, CFTR, BTK, GABRG2, GPD1, AHI1, PFKM, GRIN2A, ASXL1, CORO1A, KCNQ1, SMARCB1, PDSS2, MYH7, KRT17, DHCR7, CETP, CSF1R, WNT3, DNM2, BCL10, CASP10, CENPE, JAK3, FGF9, PRPF4, PCBD1, MYH9, COL11A1, CLDN1, REN, DMD, ACVR1, KITLG, APOE, TCF4, IL17RC, TFG, KISS1, FADD, CFB, RP1, ATM, PDE10A, FGF16, NDUFA10, ATP6AP2, ZHX2, NUP62, GATA6, HPCA, CACNA1S, TBX5, STX11, KIF5A, SGCB, APP, GRM1, PTH1R, MT-ND4L, ABCC8, EDNRB, CLDN14, CDK4, KRT10, CD27, OCLN, HTRA1, SERPING1, IRF6, HMGA2, CD46, TGFBR2, CASP8, TPO, C8B, HMGCS2, TUFM, PTPRF, NSD1, PDGFB, RPS10, DSG1, BRCA2, NEU1, CAV1, NF2, POLR1A, IGSF1, TAB2, APRT, PRKAR1A, PRPH, TUBA4A, PABPN1, NDUFA11, NT5E, ERCC1, CDT1, BCAP31, ITGB6, TAP1, NKX3-2, DDX3X, SLC1A3, MPO, IRF7, PPARG, INSR, COL5A1, PIK3R5, ARHGEF9, DTNBP1, SERPINB6, PTHLH, SYNJ1, GAN, KISS1R, ELN, TRAF3IP1, SOX10, MEFV, PAX8, COL27A1, IL10RA, CDKN2A, ARFGEF2, KCNN4, COX6B1, MRAP, NCF4, MYL3, MASP2, SDHC, KMT2C, UGT1A1, SUFU, NDUFS8, CACNB4, S1PR2, TGM1, CD3G, TRIM32, SERPINH1, NEUROG3, PIP5K1C, NFKBIA, GLUD1, SIX3, ERCC2, SNAI2, UNG, PDGFRB, SMAD4, CD40, IKBKAP, EMD, POU1F1, TUBG1, NDUFB9, MT-ND2, LRP6, SETD2, PHOX2A, DLL4, ANXA5, PTCH1, CATSPER1, DVL3, APOA2, DGKE, TAF1, SETD5, TP53, GLI2, PAX6, POMC, FLCN, DNAJC5, PACS1, WRN, AGTR1, ETV6, IDH1, CPOX, IL6, COL6A1, LPIN1, PITX3, TPM3, GHSR, MYH2, SDHB, TARDBP, SOX5, CACNA1B, CEP63, LHX3, XRCC4, PTCH2, ALDH2, HELLS, CDKN1B, MECOM, SPG20, DHDDS, COL11A2, ABCC2, UCHL1, RPL11, NR0B1, STX16, PRX, CD40LG, IFNGR2, PPP1R15B, PRLR, RELN, DDOST, COL4A2, TGFBR1, EP300, PSEN2, SLC4A1, SH2D1A, ATP6V0A2, ARHGEF6, VDR, MYO6, UBB, CD36, ZBTB16, FGF3, IGF1, NLRP1, ITK, OPA1, CYP24A1, CTDP1, FERMT1, RFXANK, ADCY5, SEC23B, MFAP5, CACNA2D4, JAM3, GDF2, BMPR2, PLIN1, SFTPA1, EDN1, RET, KCNJ11, SGCE, CACNA1G, GNA11, GJA1, SMARCA2, PUF60, AHSG, TBK1, COL4A1, INF2, VWF, SPTBN2, MECP2, MVK, PPP2R1A, KPTN, TGFB3, TGFB2, DNAJC6, MYOC, CTLA4, LAMB3, TUBB, NUP155, NRAS, CD81, FOXP3, POLR2F, SIX1, BLNK, PLAU, IL1RN, LAMA4, BAG3, CCND2, MMP2, ELANE, DNAH11, DCC, NDUFS1, IHH, PLK4, IGF1R, CFI, HOXB1, LDLR, SEC63, FASLG, NDUFS6, SLC25A4, ICOS, AXIN1, FGF23, CHRNA4, POMT1, AVPR2, AMPD2, NUP93, AKT1, PEX19, CYP27B1, CDKN1C, DNMT3B, TUBB3, MUSK, MED12, TFAP2A, TH, ACTC1, CHRM3, PLN, LPAR6, ERLIN2, ZAP70, NR2F1, NMNAT1, SUMF1, EPOR, SCO2, LCK, CSF3R, ACE, NME1, CRBN, DNAJC13, MYH11, BIN1, HCCS, ATR, HSD17B4, NGF, PRNP, PDHA1, ENTPD1, SCN5A, BRF1, IRF3, HLA-B, NFKB1, CHKB, POLR3A, DLX5, CD19, SERPINC1, CARD11, PKLR, ATRX, TBXA2R, TGFBI, NDUFV2, PITX2, JPH2, MSH2, COL17A1, FGFR2, PLCG2, SPAST, DRD5, T, UBE3A, MARS, HOXA2, GCH1, COX4I2, L1CAM, MT-ND5, ATP5A1, FLNC, ERCC3, TBX6, NTF3, FOXF1, HFE, FGF20, HACE1, NEK2, ANK1, ITGA7, AFG3L2, DNAJC3, PRKACA, GNRH1, RUNX2, SAR1B, NR0B2, ADAM10, BMPR1B, DNAL1, ANK2, RAB39B, SHH, KDR, MTRR, PORCN, CACNA1D, PKP2