CARDIOVASCULAR

PARKINSON DISEASE 4, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TIMOTHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LONG QT SYNDROME 13, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, HYPERALDOSTERONISM, FAMILIAL, TYPE III, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, GLUCOCORTICOID RESISTANCE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, MYHRE SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NOONAN SYNDROME 9, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CLOVE SYNDROME, SOMATIC, CARDIOFACIOCUTANEOUS SYNDROME, LONG QT SYNDROME 14, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ANDERSEN SYNDROME, SUPRAVALVAR AORTIC STENOSIS, VENTRICULAR TACHYCARDIA, IDIOPATHIC, AURICULOCONDYLAR SYNDROME 3, LOEYS-DIETZ SYNDROME 3, AORTIC VALVE DISEASE 2, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, NRAS, APP, F2, KRAS, NOS2, SMAD4, PRKACA, PIK3R2, GNAS, NOS3, MTOR, KCNJ5, CACNA1C, SNCA, AKT3, EDN1, SOS1, CFTR, MAP2K2, SMAD6, PIK3CA, AKT1, HRAS, EGFR, SPRY2, RAF1, SMAD3, NR3C1, ESR1, ADCY5, GNAI2, SOS2

LOEYS-DIETZ SYNDROME 1, BARAITSER-WINTER SYNDROME 1, WOLFF-PARKINSON-WHITE SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, CARDIOMYOPATHY, HYPERTROPHIC 6, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, CARDIOMYOPATHY, DILATED, 1NN, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, POLYCYSTIC LIVER DISEASE, TIMOTHY SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MOYAMOYA 6 WITH ACHALASIA, NOONAN SYNDROME 4, CARDIOMYOPATHY, DILATED, 3B, ATRIAL FIBRILLATION, FAMILIAL, 9, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LONG QT SYNDROME 13, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AORTIC ANEURYSM, FAMILIAL THORACIC 8, HYPERALDOSTERONISM, FAMILIAL, TYPE III, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, NOONAN SYNDROME 9, COFFIN-SIRIS SYNDROME 3, BARAITSER-WINTER SYNDROME 2, CLOVE SYNDROME, SOMATIC, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?DYSTONIA 23, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ANDERSEN SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BECKER MUSCULAR DYSTROPHY, SUPRAVALVAR AORTIC STENOSIS, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 7, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MALFORMATION OF THE HEART, ATRIAL FIBRILLATION, FAMILIAL, 6, COFFIN-LOWRY SYNDROME, MYXOMA, INTRACARDIAC, ATRIAL STANDSTILL 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DIAMOND-BLACKFAN ANEMIA 1, CARDIOMYOPATHY, DILATED, 1U, RENAL TUBULAR DYSGENESIS, LONG QT SYNDROME 14, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

PLIN1, CALM1, NRAS, ACTB, SMARCB1, PDE4D, MAP2K2, NPPA, ACTG1, PRKACA, PIK3CA, FLNC, PRKCSH, PRKG1, PIK3R2, MEF2A, MYLK, AGT, RYR1, EDNRA, KCNJ5, CACNA1C, PRKAR1A, NOS3, MYLK2, MTOR, AKT1, KRAS, RYR2, SOS1, ACTN4, GUCY1A3, CFTR, PSEN1, CACNB2, CACNA1S, GNAS, TGFBR1, CACNA1B, KCNJ2, EDN1, HRAS, EGFR, ACTN2, RPS19, CACNA1D, RAF1, ECHS1, RPS6KA3, PRKAG2, ADCY5, SOS2, GNAI2, MYH6, DMD, ATIC

ADAMS-OLIVER SYNDROME 5, BARAITSER-WINTER SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PARKINSON DISEASE 4, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ATRIAL SEPTAL DEFECT 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VENTRICULAR SEPTAL DEFECT 3, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, LOEYS-DIETZ SYNDROME 3, HAJDU-CHENEY SYNDROME, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, LONG QT SYNDROME 15, AORTIC ANEURYSM, FAMILIAL THORACIC 8, COFFIN-SIRIS SYNDROME 4, LATERAL MENINGOCELE SYNDROME, MYOTONIC DYSTROPHY 1, EHLERS-DANLOS SYNDROME, TYPE 3, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, MYHRE SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, NOONAN SYNDROME 9, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, RENAL TUBULAR DYSGENESIS, CLOVE SYNDROME, SOMATIC, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIOFACIOCUTANEOUS SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, LONG QT SYNDROME 14, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ATRIOVENTRICULAR SEPTAL DEFECT 4, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SERKAL SYNDROME, AORTIC VALVE DISEASE 2, PALLISTER-HALL SYNDROME, OCULOECTODERMAL SYNDROME, SUPRAVALVAR AORTIC STENOSIS, TUBEROUS SCLEROSIS 2, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, BARAITSER-WINTER SYNDROME 2, AU-KLINE SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, RUBINSTEIN-TAYBI SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LUJAN-FRYNS SYNDROME, ALAGILLE SYNDROME 2, ROBINOW SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, ACE, ACTB, ATP1B1, SMARCA4, NRAS, HNRNPK, MAP2K2, NKX2-5, PTEN, ACTG1, CREBBP, DVL3, PIK3R2, GLI3, NOTCH1, THRA, F2, DMPK, PPARG, PRKACA, PIK3CA, NOTCH2, AKT3, AKT1, KRAS, SOS1, TSC2, BRCA1, MED12, STAT1, GATA4, NKX2-1, MED13L, SMAD6, PRKG1, EDN1, HRAS, SNCA, WNT4, NOTCH3, RAF1, SMAD3, SMAD4, NR3C1, ESR1, PLN, MYH6, MTOR, SOS2

BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, 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, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, WERNER SYNDROME, STICKLER SYNDROME, TYPE I, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SUPRAVALVAR AORTIC STENOSIS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LOEYS-DIETZ SYNDROME 3, AORTIC VALVE DISEASE 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, 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, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, ATRIOVENTRICULAR SEPTAL DEFECT 4, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?TETRA-AMELIA SYNDROME, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, OSTEOGENESIS IMPERFECTA, TYPE I, NON-IMMUNE HYDROPS FETALIS, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, AYME-GRIPP SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, VENTRICULAR SEPTAL DEFECT 1, HEMOCHROMATOSIS TYPE 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 6, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HAY-WELLS SYNDROME, HETEROTOPIA, PERIVENTRICULAR, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?CARDIOMYOPATHY, DILATED, 2A, DYSAUTONOMIA, FAMILIAL, PALLISTER-HALL SYNDROME, APERT SYNDROME, SERKAL SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LOEYS-DIETZ SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC, 7, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, BRCA2, CAV1, TNNI3, WNT5A, COL1A1, MT-CO2, ACTB, GNAS, COL1A2, RPL5, PPARG, PLG, PIK3CA, WNT4, CREBBP, GNAI2, TGFBR2, ACTA1, TGFB2, KRAS, WRN, NOS3, THRA, MTOR, FGFR1, TAF6, JAK2, CBL, IKBKAP, IFNG, NKX2-1, TGFBR1, GDNF, ROR2, SPRY2, ACTA2, TP63, ADCY5, LRP6, SOS2, GATA1, CAV3, CALR, AGL, SMAD4, DVL3, MECP2, STAT1, TGFB3, BMP2, BRCA1, AKT1, SMARCA4, TBX5, CFTR, SLC25A4, RAF1, GLI3, FN1, TERT, PTEN, MAF, COL2A1, NRAS, FLNA, FZD6, NOS2, ACTG1, PIK3R2, TGFB1, PRKCSH, PTPN11, GATA4, PRKACA, GATA5, HLA-B, NOTCH1, AKT3, SOS1, FGFR2, GATA6, PDGFRA, SMAD6, HRAS, EGFR, ACTN2, SELE, SMAD3, NR3C1, ESR1, PAX8, WNT3

?DYSTONIA 23, PARKINSON DISEASE 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, DILATED, 1NN, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PRIMARY PULMONARY HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CLOVE SYNDROME, SOMATIC, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEOPARD SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, AMYLOIDOSIS, FINNISH TYPE, SUPRAVALVAR AORTIC STENOSIS, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PULMONARY VENOOCCLUSIVE DISEASE 1, AORTIC ANEURYSM, FAMILIAL THORACIC 7, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TIMOTHY SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, MYXOMA, INTRACARDIAC, ATRIAL STANDSTILL 2, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LONG QT SYNDROME 14, RENAL TUBULAR DYSGENESIS, MOYAMOYA 6 WITH ACHALASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, PLIN1, SOX9, EPHX1, NOS2, NPPA, AGTR1, GNAS, CACNA1B, NOS3, KCNMB1, AGT, CACNA1D, EDNRA, PRKACA, CACNA1C, PIK3CA, SNCA, MYLK2, PRKAR1A, EDN1, SOS1, ACTN4, GNAI2, CFTR, MYLK, CACNA1S, MAP2K2, PRKG1, AKT1, HRAS, EGFR, ACTN2, ACTA2, RAF1, MYH11, GSN, BRAF, ADCY5, GUCY1A3, MTOR, BMPR2

?DYSTONIA 23, PARKINSON DISEASE 4, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, NOONAN SYNDROME 9, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CARDIOFACIOCUTANEOUS SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TUBEROUS SCLEROSIS 2, AORTIC VALVE DISEASE 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, NRAS, APP, KRAS, MAP2K2, GNAS, TGFB1, MEF2A, NOS3, CACNA1D, EDNRA, PRKACA, CACNA1C, BMP2, SNCA, MTOR, EDN1, SOS1, CFTR, IFNG, CACNA1S, SMAD6, CACNA1B, AKT1, HRAS, EGFR, ACTN2, RAF1, ECHS1, NR3C1, ADCY5, GNAI2, RYR1, SOS2

ADAMS-OLIVER SYNDROME 5, LOEYS-DIETZ SYNDROME 1, WOLFF-PARKINSON-WHITE SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, POLYCYTHEMIA VERA, SOMATIC, CARDIOMYOPATHY, DILATED, 1NN, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, AORTIC ANEURYSM, FAMILIAL THORACIC 4, ESSENTIAL HYPERTENSION, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, SUPRAVALVAR AORTIC STENOSIS, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLYCOGEN STORAGE DISEASE IA, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, TUBEROUS SCLEROSIS-1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, NOONAN SYNDROME 9, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CLOVE SYNDROME, SOMATIC, NOONAN SYNDROME 7, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEOPARD SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE 0, MUSCLE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, LOEYS-DIETZ SYNDROME 3, AORTIC VALVE DISEASE 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYXOMA, INTRACARDIAC, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, RUBINSTEIN-TAYBI SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LONG QT SYNDROME 14, AU-KLINE SYNDROME, THROMBOCYTHEMIA 3, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, NRAS, TGFBR1, APP, MYH11, KRAS, ERBB3, TSC2, HNRNPK, FLNC, PIK3R2, G6PC, NOS3, GYS1, PCK1, FGFR1, PRKAG2, PRKACA, PPP1R3A, PRKAR1A, NOTCH1, BRCA1, SOS1, AKAP9, G6PC3, PLIN1, ESR1, CBL, AKT3, CFTR, JAK2, PDE3A, FBP1, MAP2K2, SMAD6, PIK3CA, AKT1, HRAS, EGFR, SPRY2, RAF1, SMAD3, CREBBP, TSC1, BRAF, SF3B4, MTOR, SOS2

NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LYMPHEDEMA, HEREDITARY, IA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, 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, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AORTIC VALVE DISEASE 2, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, SADDAN, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, DILATED, 1NN, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ESSENTIAL HYPERTENSION, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, ADAMS-OLIVER SYNDROME 3, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EVEN-PLUS SYNDROME, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, LEFT VENTRICULAR NONCOMPACTION 7, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ALAGILLE SYNDROME, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MYOTONIC DYSTROPHY 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?PRUNE BELLY SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, WATSON SYNDROME, NOONAN SYNDROME 7, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, PSEUDOHYPOALDOSTERONISM, TYPE 2, MYHRE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, NRAS, RASA1, TGFBR1, FLNA, APP, ECHS1, KRAS, ERBB3, CBL, MAP2K2, SMAD4, NOTCH1, NME1, CUL3, FOXC2, FLT4, TGFB1, PIK3R2, PTPN11, FLNB, MTOR, SNCA, FGFR1, ESR1, PRKACA, BMP2, NOS3, AKT3, AKT1, FN1, GJA1, SOS1, RAF1, FGFR2, ACTN4, PLG, GNB3, FGF23, PDGFRA, GNAS, AVPR2, NOS2, MIB1, RET, ACTN2, PIK3CA, EDN1, HRAS, EGFR, SPRY2, JAG1, HSPA9, SMAD6, NF1, HES7, FGFR3, CNBP, NR3C1, BRAF, CHRM3, SOS2, GNAI2, RBPJ, PTEN, PAX8

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, NON-IMMUNE HYDROPS FETALIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BARAITSER-WINTER SYNDROME 1, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LOEYS-DIETZ SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, CARDIOMYOPATHY, DILATED, 1U, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DENYS-DRASH SYNDROME, ERYTHROCYTOSIS, FAMILIAL, 2, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, HAY-WELLS SYNDROME, ?TETRA-AMELIA SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, MELNICK-NEEDLES SYNDROME, NAXOS DISEASE, MYHRE SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ATRIAL SEPTAL DEFECT 2, CARASIL SYNDROME, GELEOPHYSIC DYSPLASIA 2, STICKLER SYNDROME, TYPE I, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OSTEOGENESIS IMPERFECTA, TYPE II, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, MARFAN LIPODYSTROPHY SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, POLYCYSTIC LIVER DISEASE, LOEYS-DIETZ SYNDROME 2, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TUBEROUS SCLEROSIS-1, PULMONARY VENOOCCLUSIVE DISEASE 1, SERKAL SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, LOEYS-DIETZ SYNDROME 1, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, ROBINOW SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, APP, TGFB2, HTRA1, FZD6, ERBB3, NOS2, SMAD4, ACTG1, NOTCH1, DVL3, WNT3, TGFB1, FLNA, PSEN1, COL1A1, GATA4, TGFB3, LRP5, VHL, TP63, NOS3, GATA5, BMP2, COL1A2, BRCA1, AKT1, SOX2, ESR1, WNT5A, FGFR1, ADD1, CTNNA3, KIF1B, WT1, JUP, ROR2, FBN1, TGFBR1, GLI3, PTEN, CRB2, EGFR, ACTN2, HSPA9, ACTB, TGFBR2, SMAD3, NR3C1, TSC1, COL2A1, PLG, WNT4, BMPR2

LOEYS-DIETZ SYNDROME 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, DILATED, 1NN, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CARNEY COMPLEX, TYPE 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, OCULOECTODERMAL SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPERTENSION AND BRACHYDACTYLY SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NOONAN SYNDROME 9, CLOVE SYNDROME, SOMATIC, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, LONG QT SYNDROME 14, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEOPARD SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SUPRAVALVAR AORTIC STENOSIS, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LOEYS-DIETZ SYNDROME 2, AORTIC VALVE DISEASE 2, MYXOMA, INTRACARDIAC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, FRAGILE X SYNDROME, COFFIN-LOWRY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, KRAS, PIK3R2, GNAS, MTOR, PPARG, PRKACA, PRKAR1A, BRCA1, AKT1, AKT3, CFTR, FMR1, LRP2, PDE3A, SMAD6, PIK3CA, SOS1, HRAS, EGFR, TGFBR2, NR3C1, RPS6KA3, BRAF, ESR1, ADCY5, GNAI2, RAF1, SOS2

{MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, 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, NEUROFIBROMATOSIS-NOONAN SYNDROME, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, LOEYS-DIETZ SYNDROME 3, AORTIC VALVE DISEASE 2, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUSCULAR DYSTROPHY, CONGENITAL, ESSENTIAL HYPERTENSION, EHLERS-DANLOS SYNDROME, TYPE 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HOLT-ORAM SYNDROME, ROBINOW SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, ?DYSTONIA 23, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, NOONAN SYNDROME 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CLOVE SYNDROME, SOMATIC, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {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, HEMOCHROMATOSIS TYPE 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, MALOUF SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, LIPOPROTEIN LIPASE DEFICIENCY, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HAY-WELLS SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HETEROTOPIA, PERIVENTRICULAR, WATSON SYNDROME, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, HEART-HAND SYNDROME, SLOVENIAN TYPE, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, ACE, EDN1, RASA1, SMAD6, CAV1, APP, SMAD3, SOX2, GJA1, ERBB3, NRAS, MAP2K2, SMAD4, PTEN, NOTCH1, DVL3, FLNC, WNT5A, TGFB1, CACNA1B, NOS3, PPARG, LPL, GATA5, STAT1, FGFR2, NOS2, TGFB2, AGT, NTRK1, CACNA1D, EDNRA, ESR1, FGF23, TGFB3, CACNA1C, BMP2, PSEN1, TBX5, ECHS1, AKT1, FN1, KRAS, HNRNPK, TSC2, BRCA1, AKT3, LMNA, RPL11, TAB2, CRYAB, CACNA1S, RAF1, PDGFRA, TGFBR1, SPRY2, PIK3CA, SOS1, HRAS, MAX, EGFR, ACTN2, SELE, HSPA9, PRKACA, FGFR1, MEF2A, TGFBR2, HES7, F13A1, CREBBP, NR3C1, RPS6KA3, TP63, CFTR, CACNB2, BRAF, PLG, FLNA, FLNB, NF1, SOS2, FGFR3

?DYSTONIA 23, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, CARDIOMYOPATHY, DILATED, 1NN, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TIMOTHY SYNDROME, MOYAMOYA 6 WITH ACHALASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LONG QT SYNDROME 13, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DONNAI-BARROW SYNDROME, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, CARDIAC VALVULAR DYSPLASIA, X-LINKED, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, FRONTOMETAPHYSEAL DYSPLASIA, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, HYPERALDOSTERONISM, FAMILIAL, TYPE III, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, AORTIC VALVE DISEASE 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HETEROTOPIA, PERIVENTRICULAR, CARDIOMYOPATHY, DILATED, 1U, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

CALM1, SOX9, APP, FLNA, PDE4D, SMAD4, PRKACA, NOS1AP, GNAS, CACNA1B, NOS3, CFTR, CACNA1D, KCNJ5, CACNA1C, PSEN1, AKAP9, RYR2, GNAI2, GNB3, SMAD6, PRKG1, LRP2, ACTN2, RAF1, ADCY5, GUCY1A3, RYR1

ADAMS-OLIVER SYNDROME 5, WOLFF-PARKINSON-WHITE SYNDROME, MALONYL-COA DECARBOXYLASE DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PSEUDOHYPOALDOSTERONISM, TYPE IIC, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, TUBEROUS SCLEROSIS-1, EHLERS-DANLOS SYNDROME, TYPE 3, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, CLOVE SYNDROME, SOMATIC, MYOPATHY, DISTAL, 4, LONG QT SYNDROME 14, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, GLYCOGEN STORAGE DISEASE 0, MUSCLE, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, SUPRAVALVAR AORTIC STENOSIS, ESSENTIAL HYPERTENSION, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, GLUCOCORTICOID RESISTANCE, RUBINSTEIN-TAYBI SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, FLNC, FGFR1, NOS2, SMAD4, NOTCH1, PIK3R2, G6PC, NOS3, GYS1, PCK1, PPARG, PRKAG2, PRKACA, HRAS, AKT3, AKT1, G6PC3, ESR1, CREBBP, CFTR, CPT1A, FBP1, MLYCD, PIK3CA, PTEN, WNK1, EGFR, PEX5, STRADA, NR3C1, TSC1, MTOR, ATIC

BARAITSER-WINTER SYNDROME 1, LATERAL MENINGOCELE SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, CARDIOMYOPATHY, DILATED, 1JJ, 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, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, SUPRAVALVAR AORTIC STENOSIS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LOEYS-DIETZ SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, RENAL TUBULAR DYSGENESIS, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, DILATED, 1NN, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, HEMOCHROMATOSIS, TYPE 2B, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOANAL ATRESIA AND LYMPHEDEMA, NOONAN SYNDROME 9, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ADAMS-OLIVER SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ROBINOW SYNDROME, HAY-WELLS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EVEN-PLUS SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, GLYCOGEN STORAGE DISEASE IA, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ALAGILLE SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, HEMOCHROMATOSIS TYPE 1, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, HETEROTOPIA, PERIVENTRICULAR, MYHRE SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MECKEL SYNDROME 4, GLYCOGEN STORAGE DISEASE 0, MUSCLE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, APERT SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LOEYS-DIETZ SYNDROME 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, F2, EDNRA, WNT5A, COL1A1, TNXB, ACTB, GNAS, PIK3CA, COL3A1, AGT, PPARG, COL5A1, EDN1, PKD1, G6PC3, AKT3, PTPN14, COL4A5, G6PC, NOTCH1, JAG1, TGFBR2, CREBBP, GNAI2, RBPJ, PTEN, ACTA1, SHOC2, TGFB2, F13A1, KRAS, MAP2K2, COL6A2, IGF2, NOS3, COL6A1, MTOR, FGFR1, CEP290, CBL, PLOD3, COL2A1, GNB3, JAK2, STAT1, TGFBR1, C3, SPRY2, NOTCH3, FGF23, RPS6KA3, TP63, SOS2, MIB1, GJA1, SOX9, SMAD4, COL4A1, FLT4, GHR, GYS1, PCK1, VHL, COL4A4, BMP2, BRCA1, LAMA4, SOX2, FOXC2, COL1A2, FN1, HSPA9, RAF1, FGFR3, HAMP, COL6A3, NRAS, FLNA, MYH11, NOS2, PIK3R2, AKT1, TGFB1, COL5A2, COL11A1, ESR1, PTPN11, PLG, SOS1, FGFR2, COL4A3, PDGFRA, APP, FOXF1, HRAS, EGFR, ACTN2, SELE, CALR, EPOR, SMAD3, NR3C1, TSC1, ATIC

VERHEIJ SYNDROME, LONG QT SYNDROME 12, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, CARASIL SYNDROME, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, MEDULLARY CYSTIC KIDNEY DISEASE 1, HEMOCHROMATOSIS TYPE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 10, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 1E, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, BRUGADA SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, ATRIAL SEPTAL DEFECT 8, CARDIOMYOPATHY, DILATED, 3B, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, [BILIRUBIN, SERUM LEVEL OF, QTL1], AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 25, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, SINGLETON-MERTEN SYNDROME 1, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, ATRANSFERRINEMIA, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ?TETRA-AMELIA SYNDROME, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HOLT-ORAM SYNDROME, NEUROFIBROMATOSIS, TYPE 1, LONG QT SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, PARAGANGLIOMAS 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY, MYOFIBRILLAR, 4, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, CARDIOMYOPATHY, DILATED, 1A, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, SMITH-MAGENIS SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, CARNEY COMPLEX, TYPE 1, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?CARDIOMYOPATHY, DILATED, 2A, KARTAGENER SYNDROME, DANON DISEASE, NOONAN SYNDROME 7, DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, CARDIOMYOPATHY, DILATED, 1V, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, AORTIC ANEURYSM, FAMILIAL THORACIC 4, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, TARP SYNDROME, DONNAI-BARROW SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ATRIOVENTRICULAR SEPTAL DEFECT 5, NEUROFIBROMATOSIS-NOONAN SYNDROME, LEOPARD SYNDROME 3, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, KABUKI SYNDROME 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DUANE-RADIAL RAY SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 2, MYXOMA, INTRACARDIAC, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, SHPRINTZEN-GOLDBERG SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, CARDIOMYOPATHY, HYPERTROPHIC, 12, HEMOCHROMATOSIS, TYPE 2B, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, SOTOS SYNDROME 1, CHOANAL ATRESIA AND LYMPHEDEMA, VELOCARDIOFACIAL SYNDROME, NOONAN SYNDROME 9, PRIMARY PULMONARY HYPERTENSION, DENYS-DRASH SYNDROME, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALFORMATION OF THE HEART, MALOUF SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ATRIAL FIBRILLATION, FAMILIAL, 3, MUSCULAR DYSTROPHY, CONGENITAL, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, VENTRICULAR SEPTAL DEFECT 3, DUCHENNE MUSCULAR DYSTROPHY, NOONAN SYNDROME 10, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, ALAGILLE SYNDROME, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, CORNELIA DE LANGE SYNDROME 2, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SESAME SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GELEOPHYSIC DYSPLASIA 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), COMPLEMENT FACTOR I DEFICIENCY, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ATRIAL FIBRILLATION, FAMILIAL, 6, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, LEOPARD SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, PULMONARY VENOOCCLUSIVE DISEASE 2, BASAL CELL NEVUS SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LONG QT SYNDROME 13, COCKAYNE SYNDROME, TYPE B, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, 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, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, AORTIC VALVE DISEASE 2, SADDAN, CARDIOMYOPATHY, HYPERTROPHIC, 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, ALPORT SYNDROME, AUTOSOMAL DOMINANT, CARDIOMYOPATHY, DILATED, 1HH, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, ESSENTIAL HYPERTENSION, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, SICK SINUS SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, BETHLEM MYOPATHY 1, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SERKAL SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 4, OSTEOGENESIS IMPERFECTA, TYPE I, JERVELL AND LANGE-NIELSEN SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, CORNELIA DE LANGE SYNDROME 3, MYOTONIC DYSTROPHY 1, ATRIAL SEPTAL DEFECT 5, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, CARDIAC VALVULAR DYSPLASIA, X-LINKED, BALLER-GEROLD SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, TANGIER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?ATRIAL FIBRILLATION 15, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, HAY-WELLS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CUTIS LAXA, AD, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, HERMANSKY-PUDLAK SYNDROME 1, PARAGANGLIOMAS 4, APERT SYNDROME, LONG QT SYNDROME-3, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, WOLFF-PARKINSON-WHITE SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HETEROTAXY, VISCERAL, 5, ATRIAL FIBRILLATION, FAMILIAL, 10, DIGEORGE SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, HEPATIC LIPASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ADAMS-OLIVER SYNDROME 6, GLUCOCORTICOID RESISTANCE, CARDIOMYOPATHY, DILATED, 1JJ, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BARDET-BIEDL SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CALCIFICATION OF JOINTS AND ARTERIES, SMITH-LEMLI-OPITZ SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LUJAN-FRYNS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ATRIOVENTRICULAR SEPTAL DEFECT 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, SHORT QT SYNDROME 2, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPOPLASTIC LEFT HEART SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, TYPE IV, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, RENPENNING SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, VENTRICULAR SEPTAL DEFECT 2, CARDIOMYOPATHY, HYPERTROPHIC, 17, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MECKEL SYNDROME 4, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, KABUKI SYNDROME 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, SMITH-KINGSMORE SYNDROME

CALM1, TSC2, HBB, FGFR1, DYRK1B, LBR, CUL3, WNT5A, GLI3, COL3A1, RPL5, SFTPA2, SDHA, DNAH14, KDM6A, PTPN14, DST, ERCC6, HPGD, WNK1, TGFBR2, DNAI2, CREBBP, KMT2C, DYNC2H1, JPH2, RASA1, TPM1, XRCC4, KL, APOA1, GNAS, THRA, MTOR, TNNI3, MT-ND6, TAF6, CITED2, CBL, NR1I3, JAK2, EFTUD2, NKX2-1, VPS33B, MIB1, GALNT3, ROR2, MT-CYB, NDUFA1, RYR1, TNNT2, TP63, DNMT3A, SMC3, MT-CO1, GATA1, CAV3, BANF1, AGL, SERPINC1, SUFU, SMAD4, DVL3, GDNF, CEP290, TPM2, PSEN2, ZFPM2, NDUFS7, PQBP1, CASQ2, HES7, AKT1, AIP, TWIST1, ERCC8, DNAH1, FANCA, HSPA9, RAF1, LAMP2, HAMP, LRP5, HNRNPK, PIK3R2, WNT3, COL5A2, LPL, SOS2, GATA4, DMPK, MT-CO2, HLA-B, CENPE, COL6A1, COL4A3, GPX4, SMAD6, MEF2A, LRP2, TF, COX7B, PNPLA2, NR3C1, TSC1, BMPR2, PEX5, NDUFS2, UGT1A1, APOB, F5, CACNA1B, PSEN1, PDE11A, ECHS1, REN, MYH7, NDUFS4, WT1, COL4A5, BAG3, MT-ATP6, DES, MT-CO3, SOS1, DNAI1, MEFV, EMD, DLL4, KCNMB1, NRAS, GNAI2, SF3B4, TNXB, SOX9, TGFB2, ACTC1, DSG2, MAP2K2, NPPA, NME1, NOTCH1, MYCN, CYP3A5, CBS, EDNRA, NR2F2, SGCG, MYOM1, RBM10, JUP, LIPC, KAT6B, PRKG1, ACTA2, FGF23, BRAF, KAT6A, PIGR, CALR, DPH1, NDUFB3, DNAH8, COL4A4, F13A1, FLT4, SMAD9, CTCF, MYBPC3, DSC2, KCNJ5, BMP2, HRAS, SMC1A, AKAP9, SOX2, KANSL1, FOXP1, ERBB3, EGFR, COL1A2, SNCA, NF1, UMOD, AKAP10, MAF, MT-ND3, TCAP, NDUFV1, NODAL, ACTG1, ASXL1, PRKCSH, TGFB1, LMNA, KMT2D, CFTR, SDHB, CACNA1C, NOTCH2, PLG, LDLR, NDUFB9, FCGR2B, ACTN4, CRYAB, PCSK9, FOXF1, ADAM17, EPOR, SMAD3, SLC25A20, ESR1, DDX58, SKI, SKIV2L, ATIC, PDE4D, C3AR1, F2, PKD1, SALL1, IFIH1, CENPF, CTSA, MUC1, ATP6V1B2, AGT, PPP1R3A, DNAH5, RECQL4, KMT2A, ZEB2, NEB, FMR1, SALL4, BCOR, FBP1, PIK3CA, PTPN11, JAG1, COX8A, PRKAG2, COL2A1, RBPJ, RARB, ACTA1, ACTB, SMARCA4, DSP, ELN, LZTR1, GPC3, IGF2, NT5E, NOS3, CHRM3, SDHC, RAI1, ABCA1, PLOD3, CACNB2, TALDO1, C3, MYH6, FKBP14, TMEM173, SPRY2, TSHR, CHD7, RPS6KA3, TBX1, ATRX, HSD17B10, AGTR1, SDHD, SLC22A5, CSRP3, SNTA1, VHL, COL4A1, ARL6, BRCA1, FN1, FHL1, FOXC2, KLF1, FBN1, MT-ND1, EDN1, TERT, TTN, RPS19, PTEN, FGFR3, GSN, CFH, GDF2, NDUFS3, KCNQ1, SMARCB1, NOS2, MT-ND4, PUF60, KCNJ10, MED25, MYH9, COL11A1, NTRK1, POMT1, TAF2, FADD, SP110, GATA6, CACNA1S, CLASP1, APP, MT-ND4L, CRB2, ACTN2, HTRA1, NDUFB11, CD46, FLNB, BRCA2, CAV1, POLR1A, TAB2, COL1A1, CNBP, NDUFA11, PIGT, TBX3, PPARG, COL5A1, PRKAR1A, DSG1, RYR2, COX6B1, EFEMP2, SGCB, SCO2, NEU1, MYL3, WNT4, MT-ND2, PTCH1, ACE, APOA2, KRAS, NKX2-5, WRN, CHKB, CPOX, DNAL1, CACNA1D, EPHX1, PTCH2, IKBKAP, GNB3, IFNG, STAT1, PDE3A, AVPR2, FANCC, TGFBR1, MAX, NOTCH3, ADCY5, SEC23B, MFAP5, LRP6, CFB, PAX8, PLIN1, SFTPA1, RET, GJA1, SNRPB, SGCA, MECP2, MYLK, TGFB3, DDC, IGFBP7, CTLA4, DMD, CHRNA1, NUP155, LAMA4, EIF2AK4, NDUFS1, MRPL3, TBX5, DTNBP1, CFI, MED12, SEC63, NDUFS6, SLC25A4, SGCD, CDKN1C, LDB3, ACVRL1, PLN, FLNA, FZD6, HCCS, DHCR7, ATP1B1, SCN5A, NSD1, FCGR2A, PRKACA, GATA5, AKT3, NDUFV2, FGFR2, PACS1, CTNNA3, RPL11, PDGFRA, MT-ND5, ATP5A1, FLNC, PEX19, SELE, MYH11, ANK2, HFE, TPM3, PKP2

ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, BASAL CELL NEVUS SYNDROME, WOLFF-PARKINSON-WHITE SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, LONG QT SYNDROME 12, TYROSINEMIA, TYPE I, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, PARAGANGLIOMAS 3, GAUCHER DISEASE, PERINATAL LETHAL, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, COPROPORPHYRIA, HARDEROPORPHYRIA, HEPATIC LIPASE DEFICIENCY, BARTH SYNDROME, HEMOCHROMATOSIS TYPE 1, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, MYOTONIC DYSTROPHY 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, MUSCULAR DYSTROPHY, CONGENITAL, TRANSALDOLASE DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, NAXOS DISEASE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MUCOPOLYSACCHARIDOSIS IS, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, LEOPARD SYNDROME 3, PELGER-HUET ANOMALY, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, MEDULLARY CYSTIC KIDNEY DISEASE 1, SUPRAVALVAR AORTIC STENOSIS, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), COENZYME Q10 DEFICIENCY, PRIMARY, 7, AURICULOCONDYLAR SYNDROME 3, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ESTROGEN RESISTANCE, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, PULMONARY HYPERTENSION, PRIMARY, 2, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, COCKAYNE SYNDROME, TYPE A, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, CATEL-MANZKE SYNDROME, GAUCHER DISEASE, TYPE IIIC, GLUTAMINE DEFICIENCY, CONGENITAL, SADDAN, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, CARDIOMYOPATHY, HYPERTROPHIC, 3, CEREBROTENDINOUS XANTHOMATOSIS, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NOONAN SYNDROME 7, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), MEND SYNDROME, VLCAD DEFICIENCY, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CARDIOMYOPATHY, DILATED, 3B, HETEROTOPIA, PERIVENTRICULAR, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, FEINGOLD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, [BILIRUBIN, SERUM LEVEL OF, QTL1], AORTIC ANEURYSM, FAMILIAL THORACIC 8, MUCOPOLYSACCHARIDOSIS II, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, LOEYS-DIETZ SYNDROME 3, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, ALKAPTONURIA, LONG QT SYNDROME 14, COFFIN-SIRIS SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, LEBER OPTIC ATROPHY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, VENTRICULAR SEPTAL DEFECT 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, GLYCOGEN STORAGE DISEASE IV, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, LONG QT SYNDROME 15, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, MYOPATHY, DISTAL, TATEYAMA TYPE, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, CHIME SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, GAUCHER DISEASE, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, FANCONI ANEMIA, COMPLEMENTATION GROUP C, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, OROTIC ACIDURIA, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, BURN-MCKEOWN SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, NESTOR-GUILLERMO PROGERIA SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, GM1-GANGLIOSIDOSIS, TYPE I, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, GLYCOGEN STORAGE DISEASE II, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, COENZYME Q10 DEFICIENCY, PRIMARY, 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, RESTRICTIVE DERMOPATHY, LETHAL, APERT SYNDROME, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, TANGIER DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BECKER MUSCULAR DYSTROPHY, MAY-HEGGLIN ANOMALY, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CHILD SYNDROME, TUBEROUS SCLEROSIS 2, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, EPSTEIN SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MALFORMATION OF THE HEART, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, OGDEN SYNDROME, LIANG DISTAL MYOPATHY, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, MALOUF SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEU-LAXOVA SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ATRIAL FIBRILLATION, FAMILIAL, 6, TATTON-BROWN-RAHMAN SYNDROME, MYHRE SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 1, PARKINSON DISEASE 4, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, MALONYL-COA DECARBOXYLASE DEFICIENCY, DESMOSTEROLOSIS, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, DILATED CARDIOMYOPATHY 1DD, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SENGERS SYNDROME, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, CARDIOMYOPATHY, HYPERTROPHIC 6, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, CPT DEFICIENCY, HEPATIC, TYPE II, ERYTHROCYTOSIS, FAMILIAL, 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ?CARDIOMYOPATHY, DILATED, 2A, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, ?HYDROXYKYNURENINURIA, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, CILIARY DYSKINESIA, PRIMARY, 6, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SICKLE CELL ANEMIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PARAGANGLIOMAS 4, ESSENTIAL HYPERTENSION, MUCOPOLYSACCHARIDOSIS IH/S, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, METHYLMALONIC ACIDURIA, MUT(0) TYPE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CODAS SYNDROME, CPT II DEFICIENCY, LETHAL NEONATAL, PULMONARY VENOOCCLUSIVE DISEASE 1, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CORNELIA DE LANGE SYNDROME 2, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUCOPOLYSACCHARIDOSIS IVA, CALCIFICATION OF JOINTS AND ARTERIES, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, RPL5, MLYCD, CAV1, HBB, TNNI3, KMT2A, COQ9, LMNA, COL1A1, NAA10, ACADS, GAA, TPM1, NDUFA11, NT5E, MT-CO3, HEXB, SMARCA4, FXN, MUC1, CYP11B2, F2, GUSB, AGT, PCCB, PPARG, MGAT2, MTHFR, VMA21, HIBCH, GALNS, NSDHL, POLR1A, IDUA, MYH7, COQ7, PLG, HADH, ALG1, ARSB, CLASP1, SDHC, PEX7, FBP1, MT-ATP6, AGK, DES, PIK3CA, TPK1, WNK1, CYP11B1, DLD, ABCA1, COX8A, COQ2, HSD17B10, APOA2, CPT1A, UMPS, BAAT, LIPT1, MT-ND2, LDLR, RBPJ, PEX5, NUBPL, APOB, SDHD, DDC, PIGN, FGFR3, KRAS, FCGR2B, PIGV, EGFR, NPPA, PIGM, NME1, ACTN4, IGF2, IDS, CYP27A1, NOS3, NRAS, GLUL, LMNB1, MRPL44, CYP3A5, PIGT, CBS, RYR1, FGFR1, PRKAG2, MT-ND6, THPO, POLG, TAF6, CPOX, AGXT, HADHA, PYCR1, DMPK, ESR1, GJA1, LONP1, GNAI2, NR1I3, IFNG, EFTUD2, JUP, GMPPA, EARS2, GNAS, TALDO1, G6PC, FANCC, SGSH, DSE, NDUFS2, PRKG1, ATP6V1B2, MYH6, FKBP14, MT-CYB, NDUFA1, SMAD9, TNNT2, SMC1A, FGF23, LIPC, B3GAT3, RPS6KA3, ENPP1, DHCR24, ERCC8, FAH, ADD1, TGFB2, SLC26A3, PAM16, NDUFS7, FANCM, PMM2, BMPR2, HGD, CAV3, BANF1, GPC3, GLB1, AGL, NDUFB3, SOX9, SCO2, XYLT2, SMAD4, KYNU, G6PC3, GNS, EPHX2, MECP2, GMPPB, LRP5, TAZ, PNP, DMD, VHL, BMP2, LIAS, KL, TGDS, DBH, BRCA1, MTOR, FN1, CPT2, TXNL4A, HADHB, RAF1, NDUFS1, MRPL3, PPOX, DDX58, MUT, ALDH18A1, TANGO2, SEC63, COX10, ATP5A1, PEX19, MT-ND1, COX15, HNRNPK, CLIC2, CALR, GALNT3, SNTA1, EDN1, SNCA, PIGR, PIGO, FANCA, HSPA9, B3GALT6, LBR, ECHS1, COQ4, POLG2, BRAF, NME8, ADAMTS10, RYR2, HGSNAT, MT-ND3, ADK, COX7B, NDUFV1, GBE1, HMBS, DPM1, FLNA, SDHA, SMAD3, SMARCB1, PIGC, NOS2, NDUFV2, ACTG1, COX14, MT-ND4, DHCR7, DPH1, PIGL, AKT1, XYLT1, PGM1, PTPN11, AHCY, GATA4, ALG10, NAGLU, MYH9, PDGFRA, TGFB1, REN, CHKB, MT-CO2, GATA5, SUFU, EBP, NOTCH1, NDUFS4, SELE, PCCA, COX6B1, NDUFB9, SDHB, FGFR2, PNPLA2, DNMT3A, NDUFS3, GBA, SP110, NEU1, MYCN, GPX4, MT-ND5, ITPA, APP, MEF2A, GALNT14, MT-ND4L, PRKCSH, HRAS, HCCS, ACADVL, DOLK, ACTN2, PTGIS, PIGA, NDUFS6, TF, AGPAT2, MYH11, PHGDH, NR3C1, EXT2, NDUFB11, MT-CO1, C10orf2, JAK2, UGT1A1, PCK1, SKIV2L, ATIC

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, LONG QT SYNDROME 12, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, MEDULLARY CYSTIC KIDNEY DISEASE 1, HEMOCHROMATOSIS TYPE 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, CATEL-MANZKE SYNDROME, GAUCHER DISEASE, TYPE IIIC, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MEND SYNDROME, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CARDIOMYOPATHY, DILATED, 3B, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, [BILIRUBIN, SERUM LEVEL OF, QTL1], AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, ATRANSFERRINEMIA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FLOATING-HARBOR SYNDROME, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS TYPE IIID, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, NEUROFIBROMATOSIS, TYPE 1, LYSYL HYDROXYLASE 3 DEFICIENCY, PARAGANGLIOMAS 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, KLEEFSTRA SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NESTOR-GUILLERMO PROGERIA SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, HEMOCHROMATOSIS, TYPE 4, CILIARY DYSKINESIA, PRIMARY, 6, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {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, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, OGDEN SYNDROME, TRIMETHYLAMINURIA, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ASPARTYLGLUCOSAMINURIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARNEY COMPLEX, TYPE 1, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?CARDIOMYOPATHY, DILATED, 2A, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTH SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, DONNAI-BARROW SYNDROME, CHIME SYNDROME, MYOTONIC DYSTROPHY 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, NEUROFIBROMATOSIS-NOONAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MUCOPOLYSACCHARIDOSIS IS, LEOPARD SYNDROME 3, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, KABUKI SYNDROME 2, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY HYPERTENSION, PRIMARY, 2, MYXOMA, INTRACARDIAC, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, CUTIS LAXA, AUTOSOMAL DOMINANT 3, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC, 12, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, SOTOS SYNDROME 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, PRIMARY PULMONARY HYPERTENSION, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALFORMATION OF THE HEART, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GAUCHER DISEASE, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BECKER MUSCULAR DYSTROPHY, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, NEU-LAXOVA SYNDROME 1, APPARENT MINERALOCORTICOID EXCESS, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?PRUNE BELLY SYNDROME, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, RESTRICTIVE DERMOPATHY, LETHAL, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, ADAMS-OLIVER SYNDROME 4, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ?HYDROXYKYNURENINURIA, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MUCOPOLYSACCHARIDOSIS IVA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, 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, ZIMMERMANN-LABAND SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FUCOSIDOSIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, GLUTAMINE DEFICIENCY, CONGENITAL, SADDAN, CARDIOMYOPATHY, HYPERTROPHIC, 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, CARDIOMYOPATHY, HYPERTROPHIC 6, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MOYAMOYA 6 WITH ACHALASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, ESSENTIAL HYPERTENSION, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, DIAMOND-BLACKFAN ANEMIA 6, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, CALCIFICATION OF JOINTS AND ARTERIES, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE I, POLYCYTHEMIA VERA, SOMATIC, CORNELIA DE LANGE SYNDROME 3, BURN-MCKEOWN SYNDROME, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ETHYLMALONIC ENCEPHALOPATHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, COENZYME Q10 DEFICIENCY, PRIMARY, 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, TANGIER DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, COENZYME Q10 DEFICIENCY, PRIMARY, 1, PARKINSON DISEASE 4, ?ATRIAL FIBRILLATION 15, COPROPORPHYRIA, HARDEROPORPHYRIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SENGERS SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, PARAGANGLIOMAS 4, APERT SYNDROME, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, WOLFF-PARKINSON-WHITE SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MANNOSIDOSIS, BETA, HEPATIC LIPASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, GLUCOCORTICOID RESISTANCE, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, COENZYME Q10 DEFICIENCY, PRIMARY, 7, AURICULOCONDYLAR SYNDROME 3, PETERS-PLUS SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, RUBINSTEIN-TAYBI SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SMITH-LEMLI-OPITZ SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, VLCAD DEFICIENCY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, FEINGOLD SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LUJAN-FRYNS SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, MUCOPOLYSACCHARIDOSIS II, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CEREBROTENDINOUS XANTHOMATOSIS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, ALKAPTONURIA, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, GM1-GANGLIOSIDOSIS, TYPE I, GLYCOGEN STORAGE DISEASE II, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, HYPERTENSION AND BRACHYDACTYLY SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, HYPOPLASTIC LEFT HEART SYNDROME 1, CHILD SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, COENZYME Q10 DEFICIENCY, PRIMARY, 2, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, HAMAMY SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CODAS SYNDROME, KABUKI SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CARDIOMYOPATHY, HYPERTROPHIC, 7, SMITH-KINGSMORE SYNDROME

CALM1, TSC2, HBB, FGFR1, PDE4D, ACADS, LBR, CUL3, RPL5, GUSB, ENPP1, ETHE1, VMA21, NSDHL, KDM6A, EOGT, AGK, G6PC, WNK1, CREBBP, HGD, LIPT1, KMT2C, RAF1, RASA1, ECHS1, KL, APOA1, IDS, GNAS, MT-ND4, THRA, MRPL44, CBS, MTOR, TNNI3, MT-ND6, TAF6, ALG10, CBL, NR1I3, JAK2, EFTUD2, SGSH, GALNT3, MT-CYB, NDUFA1, TNNT2, KMT2A, DNMT3A, SMC3, MT-CO1, CAV3, BANF1, AGL, NDUFS3, SUFU, SMAD4, CHST14, GYS1, PYCR1, NDUFS7, DBH, AKT1, TANGO2, COX15, HSPA9, PEX5, XRCC4, ADK, HMBS, PIGA, LRP5, PIGC, HNRNPK, PIGN, PIGL, SRCAP, LPL, GMPPA, HADHB, MT-CO2, PDSS1, PTPN11, NDUFS4, PCCA, BRAF, GATA4, ZMPSTE24, CALR, MEF2A, LRP2, DHCR24, TF, COX7B, PNPLA2, NR3C1, SDHB, PCK1, DMPK, NDUFS2, UGT1A1, MLYCD, APOB, CPT2, ACTB, PSEN1, B3GLCT, PCCB, PDE11A, GJA1, G6PC3, MYH7, HADH, NDUFB11, DES, MT-CO3, TPK1, GALNS, CYP11B1, DLD, GNAI2, SOX9, DDC, NPPA, PIGM, NME1, NOTCH1, MYCN, CYP3A5, GNS, PLOD3, EARS2, ADAMTS10, JUP, LIPC, GPX4, PRKG1, FANCA, FGF23, ADD1, SLC26A3, PIGR, PIGV, DPH1, NDUFB3, MT-ATP6, SMAD9, GMPPB, TAZ, TGDS, BMP2, HSD11B2, SMC1A, GBE1, TXNL4A, NAGLU, MUT, COQ9, EGFR, ITPA, CLIC2, SNCA, NF1, NME8, GUCY1A3, MT-ND3, NDUFV1, MTFMT, ACTG1, PRKCSH, XYLT1, PGM1, GATA6, KMT2D, CFTR, NOTCH2, PLG, LDLR, NDUFB9, FCGR2B, ACTN4, CHST3, AGA, SMAD3, ALDH18A1, ESR1, C10orf2, SKIV2L, ATIC, LMNA, F2, TPM1, CYP27A1, HEXB, MUC1, CYP11B2, ATP6V1B2, AGT, PMM2, MGAT2, MTHFR, ERCC8, IRX5, MANBA, ALG1, FBP1, FANCM, PIK3CA, ABCA1, COX8A, NAA10, PRKAG2, RBPJ, NUBPL, ACTA1, SMARCA4, COQ4, IGF2, NT5E, NOS3, SDHC, HADHA, PLOD1, HGSNAT, TALDO1, DSE, MYH6, FKBP14, TSHR, RBP4, COX14, RPS6KA3, PAM16, GLB1, HSD17B10, SDHD, KCNMB1, SNTA1, VHL, LIAS, PPOX, HIBCH, FN1, COQ2, ATP5A1, MT-ND1, TERT, PTEN, FGFR3, POLG2, RYR2, EHMT1, FAH, NRAS, SDHA, SLC40A1, SMARCB1, BAAT, NOS2, DPM1, B3GAT3, MYH9, TGFB1, POMT1, GBA, SP110, APP, MT-ND4L, HRAS, POLG, ACTN2, AGPAT2, PEX7, FUCA1, CAV1, POLR1A, COL1A1, FMO3, NDUFA11, PIGT, FXN, EBP, PPARG, PRKAR1A, EDN1, COX10, COX6B1, CLASP1, SCO2, NEU1, COQ7, IDUA, XYLT2, EMD, UMPS, MT-ND2, APOA2, PIGO, KRAS, ATP1B1, CHKB, CPOX, LMNB1, PTGIS, RYR1, EPHX1, AGXT, LONP1, THPO, IFNG, CSRP3, PDE3A, PDGFRA, EPHX2, POMT2, NOTCH3, ACADVL, ADCY5, GALNT14, BMPR2, TTR, REN, KYNU, MECP2, TGFB2, DMD, NUP155, NDUFS1, MRPL3, BRCA1, DDX58, MED12, SEC63, NDUFS6, ARSB, B3GALT6, CHRM3, GAA, FLNA, HCCS, DHCR7, NSD1, EXT2, GATA5, AKT3, NDUFV2, FGFR2, CPT1A, GLA, GLUL, FANCC, MT-ND5, GPC3, PEX19, PNP, DOLK, SELE, MYH11, PHGDH, AHCY

{CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, CARASIL SYNDROME, DANON DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 1E, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, GAUCHER DISEASE, TYPE IIIC, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, BRUGADA SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, BECKWITH-WIEDEMANN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 25, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, PEROXISOME BIOGENESIS DISORDER 14B, ATRANSFERRINEMIA, FRANK-TER HAAR SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, HYPERTROPHIC, 4, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HOLT-ORAM SYNDROME, HAY-WELLS SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, PELGER-HUET ANOMALY, TIMOTHY SYNDROME, NOONAN SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), TRIFUNCTIONAL PROTEIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY, MYOFIBRILLAR, 4, VENTRICULAR TACHYCARDIA, IDIOPATHIC, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HEMOCHROMATOSIS TYPE 1, OGDEN SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HYPOPLASTIC LEFT HEART SYNDROME 1, ?DYSTONIA 23, MALONYL-COA DECARBOXYLASE DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ASPARTYLGLUCOSAMINURIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARNEY COMPLEX, TYPE 1, ?CARDIOMYOPATHY, DILATED, 2A, KARTAGENER 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}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, CARDIOMYOPATHY, DILATED, 1V, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, DONNAI-BARROW SYNDROME, MYOTONIC DYSTROPHY 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, VACTERL ASSOCIATION, X-LINKED, MUCOPOLYSACCHARIDOSIS IS, LEOPARD SYNDROME 3, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, MUCOLIPIDOSIS II ALPHA/BETA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DUANE-RADIAL RAY SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 2, MYXOMA, INTRACARDIAC, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NOONAN SYNDROME 7, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, CARDIOMYOPATHY, HYPERTROPHIC, 12, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, SOTOS SYNDROME 1, NOONAN SYNDROME 9, PRIMARY PULMONARY HYPERTENSION, DENYS-DRASH SYNDROME, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALFORMATION OF THE HEART, MALOUF SYNDROME, MUCOLIPIDOSIS III ALPHA/BETA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GAUCHER DISEASE, TYPE I, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, PSEUDOHYPOALDOSTERONISM, TYPE 2, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, VENTRICULAR SEPTAL DEFECT 3, DUCHENNE MUSCULAR DYSTROPHY, NOONAN SYNDROME 10, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BECKER MUSCULAR DYSTROPHY, ALAGILLE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, CORNELIA DE LANGE SYNDROME 2, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SIALIC ACID STORAGE DISORDER, INFANTILE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, GELEOPHYSIC DYSPLASIA 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ULNAR-MAMMARY SYNDROME, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS IVA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, LEOPARD SYNDROME 1, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, BASAL CELL NEVUS SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, 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, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, SC PHOCOMELIA SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, AORTIC VALVE DISEASE 2, FUCOSIDOSIS, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), SADDAN, CARDIOMYOPATHY, HYPERTROPHIC, 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, MOYAMOYA 6 WITH ACHALASIA, ESSENTIAL HYPERTENSION, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, SICK SINUS SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 2, CALCIFICATION OF JOINTS AND ARTERIES, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, BETHLEM MYOPATHY 1, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SERKAL SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE I, POLYCYTHEMIA VERA, SOMATIC, ROBERTS SYNDROME, CORNELIA DE LANGE SYNDROME 3, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ATRIAL SEPTAL DEFECT 5, OCULOECTODERMAL SYNDROME, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, CARDIAC VALVULAR DYSPLASIA, X-LINKED, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOTONIC DYSTROPHY 2, MUCOPOLYSACCHARIDOSIS IH/S, TANGIER DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?ATRIAL FIBRILLATION 15, COPROPORPHYRIA, HARDEROPORPHYRIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, PHYTANIC ACID STORAGE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, CUTIS LAXA, AD, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PALLISTER-HALL SYNDROME, APERT SYNDROME, LONG QT SYNDROME-3, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HETEROTAXY, VISCERAL, 5, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MANNOSIDOSIS, BETA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ADAMS-OLIVER SYNDROME 6, ATRIAL FIBRILLATION, FAMILIAL, 11, GLUCOCORTICOID RESISTANCE, CARDIOMYOPATHY, DILATED, 1JJ, MUCOLIPIDOSIS III GAMMA, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TRANSALDOLASE DEFICIENCY, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, HERMANSKY-PUDLAK SYNDROME 1, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AURICULOCONDYLAR SYNDROME 3, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, OCULODENTODIGITAL DYSPLASIA, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FEINGOLD SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, RUBINSTEIN-TAYBI SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, ATRIOVENTRICULAR SEPTAL DEFECT 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, MUCOPOLYSACCHARIDOSIS II, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, GM1-GANGLIOSIDOSIS, TYPE I, GLYCOGEN STORAGE DISEASE II, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, RESTRICTIVE DERMOPATHY, LETHAL, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CHILD SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, OPITZ GBBB SYNDROME, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, EHLERS-DANLOS SYNDROME, TYPE IV, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, AORTIC ANEURYSM, FAMILIAL THORACIC 7, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ATRIAL FIBRILLATION, FAMILIAL, 10, CARDIOMYOPATHY, HYPERTROPHIC, 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, SMITH-KINGSMORE SYNDROME

CALM1, GATA1, DYRK1B, FLNB, GNPTAB, CAV1, FGFR1, POLR1A, TSC2, COL1A1, NAA10, TWIST1, PRKACA, ACTB, LBR, COL5A1, CUL3, KRAS, CACNA1B, CTSA, SMARCA4, CACNA1C, MUC1, MANBA, SFTPA2, TBX3, AGT, TP63, ARSB, PPARG, AGTR1, CTNNA3, GNPTG, SALL1, PRKAR1A, GALNS, GNAI2, NSDHL, APOB, RYR2, NEB, KMT2A, COL3A1, SLC17A5, COL6A3, ENG, FMR1, WT1, EFEMP2, COL4A5, TGFBR1, PEX7, FBP1, KLF1, MLYCD, DES, PIK3CA, SOS1, WNK1, NOTCH3, MYL3, JAG1, TGFBR2, NEU1, EMD, PEX2, TNXB, KCNMB1, ACTC1, CNBP, CREBBP, IKBKAP, BAAT, COL2A1, LRP6, ATP1B1, DYNC2H1, LAMA4, SF3B4, PTEN, RARB, SMARCB1, ACTA1, ACE, EDNRA, RASA1, TPM1, TGFB2, LIMS2, F13A1, KL, PHYH, APOA1, FCGR2B, MAP2K2, LZTR1, HEXB, NME1, ACTN4, WRN, IDS, NT5E, NOS3, GSN, THRA, LMNB1, CLASP1, GDNF, SMAD9, TPM3, TNNI3, CHRM3, MID1, NSD1, DNAI2, PKD1, MYBPC3, WNT3, CPOX, PLN, AGXT, ABCA1, JAK2, CALR, NPPA, CBL, PLOD3, HGSNAT, DLL4, PSEN1, TALDO1, GLA, MYOM1, GNS, RPL5, JUP, NRAS, NKX2-1, NAGLU, PDGFRA, MIB1, GMPPB, PRKG1, ATP6V1B2, GLI3, RBPJ, ROR2, MAX, ABCD4, IGFBP7, ACTA2, IFNG, SMC1A, FGF23, AVPR2, RPS6KA3, STAMBP, ADCY5, BRAF, TGFB3, LAMP2, PAM16, PIK3R2, FUCA1, ESCO2, BMPR2, PLIN1, PTCH1, CAV3, EDN1, SMAD6, DPH1, AGL, VHL, GJA1, SHOC2, SFTPA1, SMC3, SMAD4, COL4A1, DVL3, MYCN, ZIC3, FLT4, CBS, AGA, GHR, MEF2A, MYLK, PSEN2, FLNA, PEX11B, PEX19, DMD, SOX9, SH3PXD2B, VMA21, COL4A4, BMP2, COL6A1, BRCA1, MTOR, C3, AKT1, PLG, SOX2, HADHB, TMEM173, WNT5A, MRPL3, TBX5, DDX58, MUT, ERBB3, PEX3, SEC63, EGFR, ATP5A1, SLC25A4, EPOR, RAF1, USP9X, FBN1, ELN, NOS2, SPRY2, COL1A2, EPHX2, FN1, SNCA, SGSH, CDKN1C, TSHR, HSPA9, KAT6A, LDB3, FGFR3, NKX2-5, AKAP10, MECP2, TSC1, ACVRL1, ADAMTS10, CFTR, IDUA, GUCY1A3, F5, MYH6, GUSB, AGPAT2, TNNT2, CLN3, PEX1, SMAD3, COL6A2, LRP5, HTRA1, FZD6, GAA, NODAL, MYH7, HNRNPK, ACTG1, SLC25A20, ASXL1, MYLK2, FLNC, FOXC2, FAT4, NTRK1, IGF2, PTPN11, SCN5A, SOS2, GATA4, NUP155, GJA5, DTNBP1, MYH9, COL11A1, TGFB1, DMPK, STAT1, ESR1, MT-CO2, AHCY, GATA5, GLB1, CRYAB, HLA-B, COL5A2, AKT3, FADD, LMNA, LDLR, NOTCH1, FGFR2, PACS1, REN, COL4A3, GBA, SALL4, LIFR, RPL11, GATA6, FANCC, PCSK9, GNAS, F2, APP, RET, CTCF, CTLA4, PDE4D, HRAS, PEX16, LRP2, ACTN2, WNT4, SELE, TF, TCAP, CSRP3, MYH11, PNPLA2, NR3C1, FCGR2A, PAX8, C10orf2, HFE, PEX5, ATIC

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARKINSON DISEASE 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, GLUTAMINE DEFICIENCY, CONGENITAL, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LONG QT SYNDROME 15, ETHYLMALONIC ENCEPHALOPATHY, GLUCOCORTICOID RESISTANCE, PROTEUS SYNDROME, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ZIMMERMANN-LABAND SYNDROME 1, LONG QT SYNDROME 14, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, PARAGANGLIOMAS 4, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, LEBER OPTIC ATROPHY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, CARDIOMYOPATHY, HYPERTROPHIC, 3, COFFIN-LOWRY SYNDROME

CALM1, NDUFS3, TPM1, NDUFB3, NDUFS1, MT-ATP6, COX14, MT-ND6, MT-ND4, NDUFA11, SDHA, GLUL, NDUFA1, NDUFS7, ETHE1, MT-CO2, SCO2, NDUFS4, AKT1, NDUFB9, SDHD, COX6B1, ATP5A1, SDHC, MT-ND5, COX15, NDUFS6, NDUFS2, MT-CO3, MT-ND4L, NDUFV2, SNCA, MT-CYB, ATP6V1B2, COX8A, MT-ND1, NR3C1, RPS6KA3, SDHB, NDUFB11, NDUFV1, MT-ND2, MT-ND3, COX10, COX7B, MT-CO1

GLYCOGEN STORAGE DISEASE IV, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, GLUTAMINE DEFICIENCY, CONGENITAL, BARTH SYNDROME, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, LONG QT SYNDROME 15, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, TRANSALDOLASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 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}, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, AURICULOCONDYLAR SYNDROME 3, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SADDAN, ADAMS-OLIVER SYNDROME 5, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, ESSENTIAL HYPERTENSION, [BILIRUBIN, SERUM LEVEL OF, QTL1], CARDIOMYOPATHY, HYPERTROPHIC, 12, EHLERS-DANLOS SYNDROME, TYPE 3, NAXOS DISEASE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ATRIOVENTRICULAR SEPTAL DEFECT 4, LONG QT SYNDROME 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, PARAGANGLIOMAS 3, NON-IMMUNE HYDROPS FETALIS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, KLEEFSTRA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, GLYCOGEN STORAGE DISEASE II, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYHRE SYNDROME, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, EPSTEIN SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, MALONYL-COA DECARBOXYLASE DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, POLYGLUCOSAN BODY DISEASE, ADULT FORM, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DILATED CARDIOMYOPATHY 1DD, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?CARDIOMYOPATHY, DILATED, 2A, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, GLYCOGEN STORAGE DISEASE 0, MUSCLE, PARAGANGLIOMAS 4, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 7, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CAV3, PCCB, SDHD, CAV1, SDHA, AGL, PPARG, REN, UGT1A1, PEX5, SMAD4, ACADS, SDHC, GBE1, ACTN4, GNAS, G6PC, PTPN11, ITPA, GLUL, GMPPB, GLB1, MYH9, AGT, PCK1, TNNI3, KL, MTOR, GATA5, EDN1, HIBCH, HEXB, PGM1, ENPP1, ECHS1, PCCA, HADHA, APOB, G6PC3, HADHB, NR1I3, MYH7, MRPL3, GAA, HADH, AGXT, MUT, TANGO2, GYS1, GLA, GMPPA, ATP5A1, GATA4, TALDO1, JUP, MLYCD, SDHB, PIK3CA, AKT1, HRAS, ACTN2, TAZ, TNNT2, PTEN, CSRP3, FGFR3, FBP1, NR3C1, DLD, UMPS, KMT2A, GNAI2, NOTCH1, GUSB, PMM2

CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIOMYOPATHY, DILATED, 1NN, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OCULOECTODERMAL SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CLOVE SYNDROME, SOMATIC, CARDIOFACIOCUTANEOUS SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SUPRAVALVAR AORTIC STENOSIS, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, APERT SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, SADDAN, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

FGFR2, EGFR, RASA1, AKT3, KRAS, PDGFRA, FGFR3, PTEN, FGFR1, NRAS, MAP2K2, RAF1, PIK3CA, SCO2, RET, MTOR, AKT1, NTRK1, PIK3R2, HRAS

HETEROTAXY, VISCERAL, 5, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, VACTERL ASSOCIATION, X-LINKED, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIOFACIOCUTANEOUS SYNDROME, SUPRAVALVAR AORTIC STENOSIS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DUANE-RADIAL RAY SYNDROME, AORTIC VALVE DISEASE 2, PULMONARY HYPERTENSION, PRIMARY, 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, SADDAN, 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, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RUBINSTEIN-TAYBI SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?TETRA-AMELIA SYNDROME, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, OSTEOGENESIS IMPERFECTA, TYPE I, NON-IMMUNE HYDROPS FETALIS, POLYCYTHEMIA VERA, SOMATIC, THROMBOCYTHEMIA 3, OCULOECTODERMAL SYNDROME, VENTRICULAR SEPTAL DEFECT 3, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, PULMONARY VENOOCCLUSIVE DISEASE 1, 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, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ULNAR-MAMMARY SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PALLISTER-HALL SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, SERKAL SYNDROME, HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

AKT1, NRAS, TGFBR1, CAV1, APP, FGFR3, SMARCA4, ERBB3, FGFR2, MAP2K2, SMAD4, PTEN, NOTCH1, DVL3, PIK3R2, WNT5A, SMAD9, TWIST1, COL1A2, GATA4, FLNA, TBX3, GDNF, MTOR, FGFR1, GATA5, BMP2, PIK3CA, HRAS, AKT3, EDN1, FN1, FZD6, KMT2A, CREBBP, BRCA1, NODAL, LIFR, WT1, SALL4, ZIC3, SMAD6, GLI3, LRP6, ROR2, EGFR, SPRY2, KRAS, KAT6A, RAF1, SMAD3, NKX2-5, NR3C1, ESR1, BMPR2, SOX2, JAK2, MYH6, SF3B4, WNT4, WNT3

LOEYS-DIETZ SYNDROME 1, ATRIOVENTRICULAR SEPTAL DEFECT 3, LOEYS-DIETZ SYNDROME 5, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ATRIAL STANDSTILL 2, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, PARKINSON DISEASE 4, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, POLYCYSTIC LIVER DISEASE, TIMOTHY SYNDROME, MOYAMOYA 6 WITH ACHALASIA, NOONAN SYNDROME 4, OCULODENTODIGITAL DYSPLASIA, ATRIAL SEPTAL DEFECT 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LOEYS-DIETZ SYNDROME 3, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 18, LONG QT SYNDROME 15, HYPOPLASTIC LEFT HEART SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 12, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, AURICULOCONDYLAR SYNDROME 3, CARNEY COMPLEX, TYPE 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, LIANG DISTAL MYOPATHY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ATRIOVENTRICULAR SEPTAL DEFECT 4, ESSENTIAL HYPERTENSION, CARDIOFACIOCUTANEOUS SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CLOVE SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 7, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ATRIAL FIBRILLATION, FAMILIAL, 6, MYXOMA, INTRACARDIAC, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, RENAL TUBULAR DYSGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 8, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CAV3, TGFBR1, ATP1B1, PPARG, GJA1, SOX9, MAP2K2, PRKAR1A, NPPA, PRKACA, AKT3, PRKCSH, AKT1, TGFB1, PIK3R2, PSEN1, MEF2A, GATA4, TGFB3, AGT, CACNA1D, EDNRA, AGTR1, CACNA1C, PPP1R3A, PIK3CA, NOS3, MYLK2, ADCY5, EDN1, MYLK, SOS1, MYH7, ACTN4, GUCY1A3, CFTR, KCNMB1, PDE3A, CACNA1S, GNAS, APP, PRKG1, FN1, SNCA, SLC25A4, PDE4D, ACTN2, RAF1, CSRP3, SMAD3, ESR1, PLN, GNAI2, PTPN11, KCNJ8, MTOR

?DYSTONIA 23, PARKINSON DISEASE 4, ?PRUNE BELLY SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, NON-IMMUNE HYDROPS FETALIS, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, TANGIER DISEASE, CARDIOMYOPATHY, DILATED, 1NN, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, MYXOMA, INTRACARDIAC, TIMOTHY SYNDROME, ESSENTIAL HYPERTENSION, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, CARDIOMYOPATHY, DILATED, 3B, DILATED CARDIOMYOPATHY 1DD, CARDIOMYOPATHY, HYPERTROPHIC, 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, SUPRAVALVAR AORTIC STENOSIS, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTHEMIA 3, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, DUCHENNE MUSCULAR DYSTROPHY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, AURICULOCONDYLAR SYNDROME 3, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, STORMORKEN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEOPARD SYNDROME 3, PSEUDOHYPOALDOSTERONISM, TYPE IIE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, MYOPATHY, MYOFIBRILLAR, 1, PSEUDOHYPOALDOSTERONISM, TYPE 2, BECKER MUSCULAR DYSTROPHY, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, AORTIC ANEURYSM, FAMILIAL THORACIC 7, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CARDIOMYOPATHY, HYPERTROPHIC, 18, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LONG QT SYNDROME 14, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, CARDIOMYOPATHY, HYPERTROPHIC, 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CAV3, STIM1, F2, PPARG, APOA1, PDE4D, NOS2, AGTR1, TPM1, CUL3, TGFB1, GNAS, NOS3, ANK2, MYLK, AGT, DMD, EDNRA, CHRM3, PRKACA, CACNA1C, PRKAR1A, SNCA, MYLK2, MTOR, AKT1, AKAP9, RYR2, SOS1, CBL, ACTN4, BRAF, CFTR, ERBB3, JAK2, PDGFRA, CACNA1S, AVPR2, PDE3A, APP, DES, CACNA1B, EDN1, HRAS, SLC25A4, EGFR, ACTN2, CACNA1D, TNNT2, RAF1, NEB, PLN, GNAI2, RYR1

BARAITSER-WINTER SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, HETEROTAXY, VISCERAL, 5, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LYMPHEDEMA, HEREDITARY, IA, ATRIAL FIBRILLATION, FAMILIAL, 11, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, CARDIOMYOPATHY, DILATED, 1JJ, CARDIOMYOPATHY, HYPERTROPHIC, 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TRANSALDOLASE DEFICIENCY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, LEOPARD SYNDROME 3, ?DYSTONIA 23, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DUANE-RADIAL RAY SYNDROME, LOEYS-DIETZ SYNDROME 3, AORTIC VALVE DISEASE 2, OGDEN SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 2, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CARDIOMYOPATHY, HYPERTROPHIC, 3, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, BOHRING-OPITZ SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MOYAMOYA 6 WITH ACHALASIA, NOONAN SYNDROME 10, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, AORTIC ANEURYSM, FAMILIAL THORACIC 8, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, FEINGOLD SYNDROME, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 12, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, RENAL TUBULAR DYSGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ?TETRA-AMELIA SYNDROME, BETHLEM MYOPATHY 1, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, DISTAL, TATEYAMA TYPE, ALPORT SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SADDAN, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, VACTERL ASSOCIATION, X-LINKED, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, POLYCYTHEMIA VERA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, PELGER-HUET ANOMALY, TIMOTHY SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, VENTRICULAR SEPTAL DEFECT 3, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ALAGILLE SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, LIANG DISTAL MYOPATHY, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, MYOTONIC DYSTROPHY 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SERKAL SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY, MYOFIBRILLAR, 4, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LATERAL MENINGOCELE SYNDROME, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, OPITZ GBBB SYNDROME, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ATRIAL STANDSTILL 2, AORTIC ANEURYSM, FAMILIAL THORACIC 6, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, DILATED CARDIOMYOPATHY 1DD, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, HETEROTOPIA, PERIVENTRICULAR, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ULNAR-MAMMARY SYNDROME, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AORTIC ANEURYSM, FAMILIAL THORACIC 7, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, APERT SYNDROME, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY VENOOCCLUSIVE DISEASE 1, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CAV1, FGFR1, WNT5A, COL1A1, NAA10, ACTB, LBR, GNAS, CACNA1B, PSEN1, CACNA1C, F2, TBX3, AGT, COL5A1, CTNNA3, SALL1, EDN1, KMT2A, GJA5, COL6A3, ENG, WT1, COL4A5, TGFBR1, SMARCA4, PIK3CA, NOTCH1, JAG1, EMD, TNXB, CNBP, CREBBP, IKBKAP, GNAI2, SF3B4, PTEN, HTRA1, ACTA1, ACE, RASA1, TPM1, TGFB2, LIMS2, F13A1, KRAS, LAMA4, ERBB3, MAP2K2, NKX2-5, COL6A2, IGF2, NOS3, MYCN, COL6A1, GDNF, MTOR, EDNRA, MID1, COL1A2, MYOM1, CALR, CBL, PLOD3, COL2A1, JAK2, CSRP3, JUP, ZIC3, CRYAB, MIB1, PRKG1, ROR2, MAX, SPRY2, ACTA2, TNNT2, TALDO1, RPS6KA3, ADCY5, BRAF, LRP6, BMPR2, PLIN1, COL3A1, CAV3, FLNC, GJA1, SOX9, SMAD4, COL4A1, DVL3, FLT4, SMAD9, MEF2A, MYLK, LRP5, DMD, VHL, COL4A4, BMP2, BRCA1, FN1, SOX2, TBX5, CFTR, MUT, LDLR, LRP2, FBN1, RAF1, GLI3, TWIST1, AKT1, SNCA, NOTCH3, LDB3, FGFR3, NPPA, GUCY1A3, PLG, MYH6, NRAS, FLNA, SMAD3, FZD6, NODAL, MYH7, HNRNPK, ACTG1, ASXL1, MYLK2, PIK3R2, TGFB1, WNT3, PTPN11, SOS2, GATA6, KLF1, MYH9, COL11A1, NEB, PRKACA, GATA5, COL5A2, AKT3, SOS1, FGFR2, ACTN4, COL4A3, SALL4, LIFR, GATA4, PDGFRA, LZTR1, APP, RET, CTCF, KAT6A, HRAS, EGFR, ACTN2, WNT4, SELE, SMAD6, MYH11, NR3C1, ESR1, TGFBR2, FLNB, ATIC

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, VERHEIJ SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, LONG QT SYNDROME 12, HETEROTAXY, VISCERAL, 5, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, VENTRICULAR SEPTAL DEFECT 1, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, DONNAI-BARROW SYNDROME, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, CARDIOMYOPATHY, DILATED, 1JJ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, NEUROFIBROMATOSIS-NOONAN SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, ALPHA-THALASSEMIA/MENTAL RETARDATION 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}, ATRIAL SEPTAL DEFECT 9, DYSAUTONOMIA, FAMILIAL, CORNELIA DE LANGE SYNDROME 3, LEOPARD SYNDROME 3, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MEDULLARY CYSTIC KIDNEY DISEASE 1, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, KABUKI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DUANE-RADIAL RAY SYNDROME, NOONAN SYNDROME 9, AORTIC VALVE DISEASE 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MYXOMA, INTRACARDIAC, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SADDAN, CARDIOMYOPATHY, HYPERTROPHIC, 3, ATRIAL SEPTAL DEFECT 5, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, SHPRINTZEN-GOLDBERG SYNDROME, BRUGADA SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, BOHRING-OPITZ SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ALPORT SYNDROME, AUTOSOMAL DOMINANT, MICROPHTHALMIA, SYNDROMIC 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, ATRIAL STANDSTILL 2, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SICK SINUS SYNDROME 1, CARDIOMYOPATHY, DILATED, 1E, FEINGOLD SYNDROME, ESSENTIAL HYPERTENSION, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, [BILIRUBIN, SERUM LEVEL OF, QTL1], CARDIOMYOPATHY, HYPERTROPHIC, 12, HEMOCHROMATOSIS, TYPE 2B, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 6, LOEYS-DIETZ SYNDROME 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, NAXOS DISEASE, SOTOS SYNDROME 1, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, RENAL TUBULAR DYSGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CORNELIA DE LANGE SYNDROME 2, AMYLOIDOSIS, FINNISH TYPE, MYHRE SYNDROME, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ?TETRA-AMELIA SYNDROME, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYOPATHY, DISTAL, TATEYAMA TYPE, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COFFIN-LOWRY SYNDROME, CARDIOMYOPATHY, DILATED, 1U, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, ALPORT SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, VENTRICULAR SEPTAL DEFECT 3, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, PULMONARY HYPERTENSION, PRIMARY, 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, MYOTONIC DYSTROPHY 2, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SERKAL SYNDROME, TANGIER DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PULMONARY VENOOCCLUSIVE DISEASE 1, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ALAGILLE SYNDROME 2, ALAGILLE SYNDROME, CORNELIA DE LANGE SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, HYPOPLASTIC LEFT HEART SYNDROME 1, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, GELEOPHYSIC DYSPLASIA 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, STICKLER SYNDROME, TYPE I, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, ATRIAL FIBRILLATION, FAMILIAL, 10, ULNAR-MAMMARY SYNDROME, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, CUTIS LAXA, AD, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, MOWAT-WILSON SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, PSEUDOHYPOALDOSTERONISM, TYPE IIE, MECKEL SYNDROME 4, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 7, HERMANSKY-PUDLAK SYNDROME 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, LONG QT SYNDROME-3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ATRIAL FIBRILLATION, FAMILIAL, 6, KABUKI SYNDROME 1, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CARDIOMYOPATHY, DILATED, 1II, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, AORTIC ANEURYSM, FAMILIAL THORACIC 8, CALCIFICATION OF JOINTS AND ARTERIES, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, GATA1, DYRK1B, BRCA2, CAV1, EDNRA, APOB, UGT1A1, COL1A1, CNBP, ACTB, CUL3, KRAS, TWIST1, COL1A2, CACNA1C, MUC1, F2, TBX3, AGT, PPARG, AGTR1, PIGT, NOTCH3, SALL1, PRKAR1A, EDN1, ELN, WNT5A, ZEB2, PAX8, KMT2A, PLG, WT1, COL4A5, TGFBR1, SUFU, NEU1, PIK3CA, SOS1, WNK1, EFEMP2, JAG1, TGFBR2, TNXB, ATRX, ACTC1, SMAD4, CREBBP, IKBKAP, COL2A1, RBPJ, SF3B4, NF1, RARB, ACTA1, ACE, RASA1, TPM1, TGFB2, ECHS1, SOX2, LAMA4, APOA1, MAP2K2, KMT2C, NKX2-5, AKAP10, NME1, GPC3, IGF2, NT5E, NOS3, GSN, MYCN, SMARCB1, GNB3, CYP3A5, COL6A1, GDNF, TPM3, FGFR1, MECP2, WNT3, CPOX, PTCH2, JAK2, CALR, CBL, PLOD3, GNAI2, NR1I3, PSEN1, IFNG, RPL5, JUP, LRP5, NKX2-1, KAT6B, CRYAB, MIB1, FOXP1, PRKG1, COL5A1, ROR2, TF, TMEM173, SPRY2, TSHR, SMC1A, FGF23, AVPR2, RPS6KA3, TP63, ADCY5, DNMT3A, SMC3, SNTA1, BMPR2, PLIN1, PTCH1, CAV3, SMAD6, GJA1, SOX9, SCO2, HSD17B10, COL4A1, DVL3, SLC22A5, FLT4, CLASP1, MEF2A, CEP290, CSRP3, TGFB3, FLNA, NDUFS4, DMD, VHL, HES7, COL4A4, BMP2, FKBP14, BRCA1, C3, AKT1, SMARCA4, MAX, TSC2, ANK2, MRPL3, TBX5, DTNBP1, NOTCH2, ERBB3, TAF2, LRP2, ATP5A1, RAF1, FBN1, HNRNPK, GLI3, FN1, SNCA, CDKN1C, ACTA2, HSPA9, KAT6A, PTEN, FGFR3, NPPA, HAMP, MAF, TSC1, CHRM3, KDM6A, F5, CRB2, NRAS, ZFPM2, SMAD3, FZD6, NODAL, NOS2, ACTG1, FLNB, ASXL1, FLNC, FOXC2, PUF60, NTRK1, PIK3R2, PTPN11, SCN5A, SOS2, GATA6, KMT2D, CFTR, MYH9, TGFB1, NSD1, STAT1, ESR1, PRKACA, GATA5, HLA-B, NOTCH1, AKT3, FADD, FGFR2, ACTN4, BRAF, COL4A3, SALL4, CTNNA3, RPL11, GATA4, PDGFRA, PCSK9, GNAS, BCOR, APP, RET, CTCF, FOXF1, LRP6, HRAS, EGFR, EPHX1, ACTN2, WNT4, SELE, ADAM17, MYH11, NR3C1, CHKB, HPGD, HFE, MTOR, SKI

BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, AURICULOCONDYLAR SYNDROME 3, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AORTIC VALVE DISEASE 2, MYXOMA, INTRACARDIAC, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RENAL TUBULAR DYSGENESIS, CARDIOMYOPATHY, HYPERTROPHIC, 3, ATRIOVENTRICULAR SEPTAL DEFECT 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SICK SINUS SYNDROME 2, OCULODENTODIGITAL DYSPLASIA, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, RUBINSTEIN-TAYBI SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 8, HEMOCHROMATOSIS, TYPE 2B, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, LOEYS-DIETZ SYNDROME 3, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, ATRIOVENTRICULAR SEPTAL DEFECT 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HETEROTOPIA, PERIVENTRICULAR, TIMOTHY SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, NOONAN SYNDROME 4, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ALAGILLE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, HYPERTHYROIDISM, NONAUTOIMMUNE, ATRIAL STANDSTILL 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, PARKINSON DISEASE 4, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CARNEY COMPLEX, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?CARDIOMYOPATHY, DILATED, 2A, NOONAN SYNDROME 7, PALLISTER-HALL SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ATRIAL FIBRILLATION, FAMILIAL, 6, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, CARDIOMYOPATHY, HYPERTROPHIC, 7, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

PLIN1, CALM1, CAV3, SMAD6, ATP1B1, TNNI3, GJA1, ERBB3, SOX9, MAP2K2, NPPA, PRKACA, TPM1, PIK3R2, TGFB1, GLI3, PSEN1, PPARG, FLNA, GATA4, F2, AGT, RYR1, SNCA, EDNRA, BMP2, PEX5, CACNA1C, PPP1R3A, PRKAR1A, NOS3, AKT3, MTOR, PLN, AKT1, RYR2, SOS1, FLNB, MYH7, ACTN4, MECP2, GNB3, NME1, PDE3A, CACNA1S, GNAS, APP, PTCH1, PIK3CA, EDN1, HRAS, EGFR, ACTN2, JAG1, TSHR, PRKG1, RAF1, CFTR, SMAD3, CREBBP, HAMP, BRAF, ESR1, ADCY5, GNAI2, PTPN11, HCN4, PDE4D, CACNA1D, SOS2

LOEYS-DIETZ SYNDROME 1, MUCOLIPIDOSIS III ALPHA/BETA, NON-IMMUNE HYDROPS FETALIS, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ASPARTYLGLUCOSAMINURIA, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, GM1-GANGLIOSIDOSIS, TYPE I, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, MANNOSIDOSIS, BETA, SIALIC ACID STORAGE DISORDER, INFANTILE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GLYCOGEN STORAGE DISEASE II, FEINGOLD SYNDROME, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MUCOLIPIDOSIS II ALPHA/BETA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOLIPIDOSIS III GAMMA, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ATRANSFERRINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IS, LONG QT SYNDROME 14, DANON DISEASE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUCOPOLYSACCHARIDOSIS IH/S, CEROID LIPOFUSCINOSIS, NEURONAL, 3, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, TUBEROUS SCLEROSIS 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, GALACTOSIALIDOSIS, FUCOSIDOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, GAUCHER DISEASE, TYPE IIIC, MUCOPOLYSACCHARIDOSIS IVA, GAUCHER DISEASE, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), PROTEUS SYNDROME, SOMATIC

CALM1, FUCA1, GNPTAB, GLB1, GNPTG, CLN3, NME1, PACS1, IGF2, IDS, CTSA, MYCN, GUSB, NTRK1, PPARG, BMP2, COL4A1, VMA21, HEXB, AKT1, IDUA, CALR, SLC17A5, MANBA, MRPL3, GAA, NAGLU, GBA, IFNG, GLA, ARSB, ATP5A1, TGFBR1, AGA, GALNS, SGSH, EGFR, SPRY2, GNS, TF, LAMP2, NEU1, HGSNAT

BARAITSER-WINTER SYNDROME 1, WOLFF-PARKINSON-WHITE SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AORTIC ANEURYSM, FAMILIAL THORACIC 4, LONG QT SYNDROME 15, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, MELNICK-NEEDLES SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 2, BARAITSER-WINTER SYNDROME 2, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, ?DYSTONIA 23, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, CARDIOMYOPATHY, HYPERTROPHIC, 3, CARDIOMYOPATHY, HYPERTROPHIC 6, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ESSENTIAL HYPERTENSION, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRONTOMETAPHYSEAL DYSPLASIA, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CARDIOMYOPATHY, HYPERTROPHIC, 4, MYOPATHY, MYOFIBRILLAR, 1, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, MALFORMATION OF THE HEART, MALOUF SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE I, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, ATRIAL SEPTAL DEFECT 5, MUSCULAR DYSTROPHY, CONGENITAL, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, OSTEOGENESIS IMPERFECTA, TYPE II, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, LIANG DISTAL MYOPATHY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, RESTRICTIVE DERMOPATHY, LETHAL, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BECKER MUSCULAR DYSTROPHY, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, CARDIOMYOPATHY, DILATED, 1A, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, CARDIOMYOPATHY, HYPERTROPHIC, 11, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DILATED CARDIOMYOPATHY 1DD, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HETEROTOPIA, PERIVENTRICULAR, ?CARDIOMYOPATHY, DILATED, 2A, AORTIC ANEURYSM, FAMILIAL THORACIC 7, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LOEYS-DIETZ SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, PROTEUS SYNDROME, SOMATIC

CALM1, ACE, ACTB, TGFB2, ACTC1, CAV3, SGCD, ACTG1, TPM1, FLNC, KCNJ10, TGFB1, SGCA, MYBPC3, TPM2, TGFB3, FLNA, DMD, TNNI3, MYH11, CACNA1C, NOS3, IGF2, AKT1, DST, RYR2, SGCB, MYH7, LMNA, SGCG, MYLK, CRYAB, CACNA1S, CACNB2, TGFBR1, DES, ACTN2, CACNA1B, FN1, COL1A2, MYL3, TTN, CACNA1D, EMD, F13A1, TNNT2, PRKAG2, COL2A1, MYH6, TPM3

?DYSTONIA 23, BARAITSER-WINTER SYNDROME 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, TIMOTHY SYNDROME, OCULODENTODIGITAL DYSPLASIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, HYPOPLASTIC LEFT HEART SYNDROME 1, CARDIOMYOPATHY, DILATED, 3B, SESAME SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, LONG QT SYNDROME 15, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MELNICK-NEEDLES SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, BARAITSER-WINTER SYNDROME 2, ESTROGEN RESISTANCE, NAXOS DISEASE, RESTRICTIVE DERMOPATHY, LETHAL, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ATRIOVENTRICULAR SEPTAL DEFECT 3, MYOPATHY, MYOFIBRILLAR, 1, HEART-HAND SYNDROME, SLOVENIAN TYPE, BECKER MUSCULAR DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 10, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MALOUF SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, LOEYS-DIETZ SYNDROME 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, MYOPATHY, DISTAL, TATEYAMA TYPE, HETEROTOPIA, PERIVENTRICULAR, CARDIOMYOPATHY, DILATED, 1U, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, PROTEUS SYNDROME, SOMATIC, CARDIOMYOPATHY, DILATED, 1A, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA

CALM1, SOX9, CTNNA3, FLNA, DSG2, CAV3, SGCD, ACTG1, ACTB, SGCA, IGF2, PSEN1, DSC2, CACNA1D, KCNJ10, CACNA1C, AKT1, GJA1, RYR2, DSP, ACTN4, LMNA, SGCG, CACNB2, CACNA1S, SGCB, DES, CACNA1B, FN1, ACTN2, EMD, SMAD3, ESR1, JUP, DMD, PKP2

BARAITSER-WINTER SYNDROME 1, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AORTIC ANEURYSM, FAMILIAL THORACIC 4, LONG QT SYNDROME 15, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, MELNICK-NEEDLES SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 2, BARAITSER-WINTER SYNDROME 2, STICKLER SYNDROME, TYPE I, ?DYSTONIA 23, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, CARDIOMYOPATHY, HYPERTROPHIC, 3, ATRIAL SEPTAL DEFECT 5, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRONTOMETAPHYSEAL DYSPLASIA, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CARDIOMYOPATHY, HYPERTROPHIC, 4, MYOPATHY, MYOFIBRILLAR, 1, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, MALFORMATION OF THE HEART, MALOUF SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE I, NON-IMMUNE HYDROPS FETALIS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, NOONAN SYNDROME 4, MUSCULAR DYSTROPHY, CONGENITAL, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, LIANG DISTAL MYOPATHY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, RESTRICTIVE DERMOPATHY, LETHAL, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, CARDIOMYOPATHY, HYPERTROPHIC, 11, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DILATED CARDIOMYOPATHY 1DD, SESAME SYNDROME, HETEROTOPIA, PERIVENTRICULAR, ?CARDIOMYOPATHY, DILATED, 2A, AORTIC ANEURYSM, FAMILIAL THORACIC 7, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LOEYS-DIETZ SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

CALM1, ACE, ACTB, TGFB2, ACTC1, CAV3, NOS2, ACTG1, PRKACA, TPM1, SGCA, TGFB1, PRKG1, MYBPC3, TPM2, TGFB3, FLNA, DMD, TNNI3, MYH11, KCNJ10, CACNA1C, COL1A2, IGF2, PLN, AKT1, RYR2, SOS1, SGCB, MYH7, GNAI2, LMNA, SGCG, MYLK, CACNB2, CACNA1S, GNAS, SGCD, TGFBR1, DES, ACTN2, CACNA1B, FN1, PDE4D, TTN, CACNA1D, EMD, F13A1, TNNT2, NEB, ADCY5, COL2A1, PTPN11, MYH6, TPM3, MYL3

BARAITSER-WINTER SYNDROME 1, CARDIOMYOPATHY, DILATED, 3B, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DUCHENNE MUSCULAR DYSTROPHY, DIAMOND-BLACKFAN ANEMIA 6, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, MYOPATHY, DISTAL, 4, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BECKER MUSCULAR DYSTROPHY, ?CARDIOMYOPATHY, DILATED, 2A, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, BARAITSER-WINTER SYNDROME 2, PULMONARY HYPERTENSION, PRIMARY, 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D

MYH6, RPL5, SPRY2, ACTB, CAV1, IFNG, SGCG, MYH7, TNNI3, SOX9, SGCD, PTEN, HLA-B, SGCB, CALR, PIK3CA, FLNC, ACTG1, SGCA, DMD

LOEYS-DIETZ SYNDROME 1, ATRIOVENTRICULAR SEPTAL DEFECT 3, LOEYS-DIETZ SYNDROME 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, OCULODENTODIGITAL DYSPLASIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, HYPOPLASTIC LEFT HEART SYNDROME 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ESSENTIAL HYPERTENSION, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ATRANSFERRINEMIA, LOEYS-DIETZ SYNDROME 3, CLOVE SYNDROME, SOMATIC, ESTROGEN RESISTANCE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACE, TF, TGFB2, APP, GJA1, NOS2, PIK3R2, TGFB1, PIK3CA, NOS3, STAT1, TGFB3, IGFBP7, MTOR, FGFR1, AGTR1, PTPN11, AKT3, EDN1, FN1, JAK2, CBL, PLG, CFTR, IFNG, GNAS, TGFBR1, C3, AKT1, CALR, TGFBR2, SMAD3, NR3C1, ESR1, GNAI2, FADD

LOEYS-DIETZ SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, AYME-GRIPP SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 3, POLYCYTHEMIA VERA, SOMATIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, LYMPHEDEMA, HEREDITARY, IA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, SUPRAVALVAR AORTIC STENOSIS, OCULODENTODIGITAL DYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ERYTHROCYTOSIS, FAMILIAL, 2, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CARDIOMYOPATHY, DILATED, 1JJ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NOONAN SYNDROME 9, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, RENAL TUBULAR DYSGENESIS, CLOVE SYNDROME, SOMATIC, CARASIL SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, PARKINSON DISEASE 4, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPLASTIC LEFT HEART SYNDROME 1, THROMBOCYTHEMIA 3, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ALPORT SYNDROME, AUTOSOMAL DOMINANT, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, AORTIC VALVE DISEASE 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, OSTEOGENESIS IMPERFECTA, TYPE II, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, LOEYS-DIETZ SYNDROME 4, EHLERS-DANLOS SYNDROME, TYPE IV, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, FIBROCHONDROGENESIS 1, ALPORT SYNDROME, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, TGFBR1, TGFB2, APP, F13A1, REN, LAMA4, NOS2, COL5A1, COL5A2, IGF2, TGFB1, PIK3R2, COL3A1, TGFB3, CFTR, COL11A1, FLT4, SNCA, VHL, PRKACA, BMP2, NOS3, PLG, EDN1, FN1, GJA1, SOS1, COL4A4, ACTN4, COL2A1, COL4A3, JAK2, LRP2, CRYAB, GNAS, COL4A1, COL1A1, SMAD6, PIK3CA, AKT1, HRAS, COL1A2, EGFR, ACTN2, IFNG, HTRA1, MAF, GNAI2, COL4A5, MTOR, SOS2

?DYSTONIA 23, PARKINSON DISEASE 4, ?PRUNE BELLY SYNDROME, ANDERSEN SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, POLYCYTHEMIA VERA, SOMATIC, CARDIOMYOPATHY, DILATED, 1NN, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, TIMOTHY SYNDROME, JERVELL AND LANGE-NIELSEN SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, CARDIOMYOPATHY, DILATED, 3B, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ATRIAL FIBRILLATION, FAMILIAL, 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTHEMIA 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, DUCHENNE MUSCULAR DYSTROPHY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CARDIAC VALVULAR DYSPLASIA, X-LINKED, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, NOONAN SYNDROME 9, CLOVE SYNDROME, SOMATIC, PRIMARY PULMONARY HYPERTENSION, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MECKEL SYNDROME 4, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), BECKER MUSCULAR DYSTROPHY, SUPRAVALVAR AORTIC STENOSIS, ATRIAL FIBRILLATION, FAMILIAL, 9, VENTRICULAR TACHYCARDIA, IDIOPATHIC, FRONTOMETAPHYSEAL DYSPLASIA, ESSENTIAL HYPERTENSION, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, AORTIC VALVE DISEASE 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HETEROTOPIA, PERIVENTRICULAR, ATRIAL FIBRILLATION, FAMILIAL, 7, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

KCNA5, CALM1, NRAS, APP, FLNA, KCNQ1, KRAS, CEP290, PIK3R2, TGFB1, PIK3CA, NOS3, RYR1, SNCA, PRKACA, CACNA1C, HRAS, AKT3, MTOR, EDN1, SOS1, GNB3, JAK2, CACNA1S, GNAS, SMAD6, CACNA1B, KCNJ2, AKT1, PEX19, ACTN2, CACNA1D, RAF1, CHRM3, ADCY5, GNAI2, DMD, SOS2

{MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, COCKAYNE SYNDROME, TYPE A, GLUTAMINE DEFICIENCY, CONGENITAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HEPATIC LIPASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, AORTIC VALVE DISEASE 2, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, CARDIOMYOPATHY, HYPERTROPHIC, 3, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, COMBINED HYPERLIPIDEMIA, FAMILIAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, FEINGOLD SYNDROME, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EHLERS-DANLOS SYNDROME, TYPE 3, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ADAMS-OLIVER SYNDROME 3, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LEBER OPTIC ATROPHY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, FANCONI ANEMIA, COMPLEMENTATION GROUP C, PARAGANGLIOMAS 3, NON-IMMUNE HYDROPS FETALIS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TIMOTHY SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, NOONAN SYNDROME 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYHRE SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, VENTRICULAR TACHYCARDIA, IDIOPATHIC, HEMOCHROMATOSIS TYPE 1, MALFORMATION OF THE HEART, ALAGILLE SYNDROME 2, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, EHLERS-DANLOS SYNDROME, TYPE IV, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, NESTOR-GUILLERMO PROGERIA SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HETEROTOPIA, PERIVENTRICULAR, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, KARTAGENER SYNDROME, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PARAGANGLIOMAS 4, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC