LABORATORY ABNORMALITIES

BARAITSER-WINTER SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, FACTOR V DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ENTEROKINASE DEFICIENCY, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMBINED FACTOR V AND VIII DEFICIENCY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, {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}, CEROID LIPOFUSCINOSIS, NEURONAL, 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ALPHA-2-MACROGLOBULIN DEFICIENCY, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, C3 DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, HEMOPHILIA A, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IRON-REFRACTORY IRON DEFICIENCY ANEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, FACTOR X DEFICIENCY, FACTOR VII DEFICIENCY, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, CAFFEY DISEASE, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, COMPLEMENT FACTOR D DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, TRYPSINOGEN DEFICIENCY, FACTOR XIIIA DEFICIENCY, SMALL CELL CANCER OF THE LUNG, SOMATIC, HEMOPHILIA B, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MODY, TYPE III, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PLASMA FIBRONECTIN DEFICIENCY, ANGIOEDEMA, HEREDITARY, TYPES I AND II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MASP2 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, C1R/C1S DEFICIENCY, COMBINED, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

SELP, FGA, APOB, PRSS2, ACTB, CAV1, PROC, MYH11, CTNNB1, TP53, PRSS1, CASP8, VWF, SERPINA1, GP9, F9, COL1A1, KNG1, IGF2R, CTNS, NOS3, C1R, TMPRSS15, TPP1, IL6, AGT, TGFB1, MTOR, CD46, F8, CREBBP, BMP2, F10, GGCX, ITGB2, AKT1, FN1, MMP2, APC, PCSK1, CFD, ING1, LMAN1, PLG, AR, KLKB1, CFI, RB1, IFNG, NME1, MASP2, PCSK9, IRS1, TRH, MYC, NEU1, HLA-DQA1, TMPRSS6, C3, A2M, CDH1, FKBP14, CFB, COL1A2, EGFR, HNF1A, ADA, IGF1, CTRC, F13A1, HSD17B10, HAMP, F7, IRS2, STAT3, LYZ, KDR, F5, INS, HFE, SERPING1, PLAU

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, MYOGLOBINURIA, RECURRENT, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, HYPER-IGE RECURRENT INFECTION SYNDROME, TRIMETHYLAMINURIA, POLYCYSTIC LIVER DISEASE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, VITAMIN D-DEPENDENT RICKETS, TYPE I, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ANDROGEN INSENSITIVITY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, COENZYME Q10 DEFICIENCY, PRIMARY, 6, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIAMOND-BLACKFAN ANEMIA 6, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ALBINISM, OCULOCUTANEOUS, TYPE IA, DIAMOND-BLACKFAN ANEMIA 9, SHORT SYNDROME, HYPERCALCEMIA, INFANTILE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, LATHOSTEROLOSIS, ALPHA-METHYLACETOACETIC ACIDURIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALBINISM, OCULOCUTANEOUS, TYPE III, TUBEROUS SCLEROSIS 2, PSEUDOHYPOPARATHYROIDISM IA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, SEGAWA SYNDROME, RECESSIVE, SMITH-LEMLI-OPITZ SYNDROME, CEREBROTENDINOUS XANTHOMATOSIS, VAN BUCHEM DISEASE, TYPE 2

CALR, LRP5, PCBD1, MYC, MTRR, QDPR, CYP7B1, AR, DHCR7, CYP27A1, CBS, GNAS, NOS3, CYP27B1, SC5D, CYP11B2, KLKB1, ACAT1, HNF4A, MET, DBH, CYP11B1, AKT1, CYP2A6, VDR, TYR, IL6, PTH, IFNG, RPL5, GATA4, INS, TH, CYP2C9, PAH, MT-CYB, RPS10, POR, COQ6, CYP21A2, FMO3, CYP2D6, CYP24A1, STAT3, CYP2R1, CYP17A1, BCO1, TYRP1, PIK3R1

BARAITSER-WINTER SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HYPERPARATHYROIDISM 1, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, BARTTER SYNDROME, TYPE 2, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOPATHY, DISTAL, 4, FECHTNER SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, MYOPATHY, TUBULAR AGGREGATE, 1, HYPOPHOSPHATASIA, INFANTILE, EPISODIC ATAXIA/MYOKYMIA SYNDROME, STORMORKEN SYNDROME, ALZHEIMER DISEASE, TYPE 4, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEUKODYSTROPHY, HYPOMYELINATING, 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ALAND ISLAND EYE DISEASE, RIPPLING MUSCLE DISEASE, IMMUNODEFICIENCY 43, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ATRANSFERRINEMIA, PRIMARY PULMONARY HYPERTENSION, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SEBASTIAN SYNDROME, BURKITT LYMPHOMA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, MYOPATHY, TUBULAR AGGREGATE, 2, BRUGADA SYNDROME 9, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, MUCOLIPIDOSIS IV, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NEPHRONOPHTHISIS 1, JUVENILE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, TIMOTHY SYNDROME, SCOTT SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NEPHROTIC SYNDROME, TYPE 2, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, EPSTEIN SYNDROME, HYPOMAGNESEMIA 1, INTESTINAL, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PLASMA FIBRONECTIN DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MYASTHENIC SYNDROME, CONGENITAL, 16, LEBER CONGENITAL AMAUROSIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, LIDDLE SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MAY-HEGGLIN ANOMALY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SED, MAROTEAUX TYPE, HYPOPHOSPHATASIA, CHILDHOOD, PAGET DISEASE OF BONE 3, HYPERALDOSTERONISM, FAMILIAL, TYPE III, HYPOBETALIPOPROTEINEMIA, OSTEOLYSIS, FAMILIAL EXPANSILE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, CEROID LIPOFUSCINOSIS, NEURONAL, 10, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

TSC2, CAV1, APOB, MYC, NPHS2, ACTB, SQSTM1, MYD88, PSEN1, CYBA, AGT, CDH1, CTNNB1, RYR2, B2M, KCNA1, TRPM6, CDC73, CREBBP, SCN4A, TRPV4, KRAS, SCNN1G, SERPINA1, GUCY2D, NOS3, CCND1, DAG1, ANO6, TNNI3, SCNN1A, KCND3, CACNA1F, ORAI1, KCNJ1, IFNG, NKX2-1, NCF2, CNTN5, HSPD1, CACNA1S, ALPL, PTPN1, RYR1, TNFRSF11A, BDNF, STAT3, BRAF, ACD, ABCC8, DMD, KCNA5, CAV3, STIM1, TF, KCNJ11, GJA1, KCNN4, IGF1, MCOLN1, SCNN1B, TJP2, PSEN2, CNTN1, CTSD, KCNJ5, FN1, ITPR2, CFTR, LDLR, SEC63, LRP2, PIEZO1, AKT1, PTEN, ITPR3, SLC9A3R1, FLNA, KNG1, NPHP1, TGFB1, KCNJ10, PTPN11, SCN5A, VCP, MYH9, PRKACA, CACNA1C, SCN9A, PCSK9, INS, STX11, FLNC, KCNJ2, HRAS, EGFR, ITGA7, SORT1, SELP, KDR, CACNA1D, PIK3R1

BARAITSER-WINTER SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMBINED FACTOR V AND VIII DEFICIENCY, MYOPATHY, DISTAL, 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}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPER-IGE RECURRENT INFECTION SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ALPHA-2-MACROGLOBULIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, RUBINSTEIN-TAYBI SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, PERIODIC FEVER, FAMILIAL, C3 DEFICIENCY, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, IMMUNODEFICIENCY 43, HYPERFERRITINEMIA-CATARACT SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ATRANSFERRINEMIA, PRIMARY PULMONARY HYPERTENSION, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, BURKITT LYMPHOMA, AMYLOIDOSIS, FINNISH TYPE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, FACTOR X DEFICIENCY, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, MYOPATHY, MYOFIBRILLAR, 5, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CAFFEY DISEASE, TRICHOHEPATOENTERIC SYNDROME 1, BURN-MCKEOWN SYNDROME, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, CEREBRAL AMYLOID ANGIOPATHY, COMPLEMENT FACTOR D DEFICIENCY, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, KNIEST DYSPLASIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SMALL CELL CANCER OF THE LUNG, SOMATIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CARPAL TUNNEL SYNDROME, FAMILIAL, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, HYPERTHYROIDISM, NONAUTOIMMUNE, PLASMA FIBRONECTIN DEFICIENCY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GLANZMANN THROMBASTHENIA, MASP2 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, AGAMMAGLOBULINEMIA 3, LYMPHOPROLIFERATIVE SYNDROME 2, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, C4A DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERPARATHYROIDISM, NEONATAL, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, SMITH-KINGSMORE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

PROS1, MYC, ACTB, MYD88, COL1A2, FTL, AGT, GGCX, CDH1, APOB, FGA, B2M, COL6A3, SPINK1, MASP2, COL1A1, LMAN1, MITF, CREBBP, COL2A1, SERPING1, SERPIND1, MMP2, APOA1, PLAU, SERPINA1, HBA1, CD79A, NOS3, IL6, TTC37, MTOR, FGFR1, CST3, CCND1, CD27, C4A, C3, TNFRSF1A, FANCA, RB1, HTR2A, STAT3, INS, BMPR2, TTR, TF, ITGB3, AHSG, STAT1, ITIH4, CASR, HRG, VHL, BMP2, ITGB2, FN1, TXNL4A, PCSK1, VCP, TP53, CASP8, A2M, AKT1, TSHR, PTEN, SPINK5, GSN, SERPINC1, FLNA, KNG1, TGFB1, ANOS1, AVP, NOTCH1, PLG, COL4A3, SERPINA6, FLNC, APC, F10, EGFR, SERPINF2, KRT1, CFD, KDR, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ATRIOVENTRICULAR SEPTAL DEFECT 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAFFEY DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NOONAN SYNDROME 4, [BLOOD GROUP, LUTHERAN NULL], {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SPLENIC HYPOPLASIA, GLANZMANN THROMBASTHENIA, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XVII, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPHOSPHATEMIC RICKETS, AR, BURKITT LYMPHOMA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, ALAGILLE SYNDROME, ATRANSFERRINEMIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PLASMA FIBRONECTIN DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, FIBROCHONDROGENESIS 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL

TF, CAV1, GJA1, MYC, LAMA2, TGFB1, NOTCH1, ITGB3, DAG1, AGT, SMAD9, PLG, ITGA2B, FN1, SOS1, FGA, KDR, CCND1, ITGA3, SPARC, COL1A1, RPSA, IL6, AKT1, EGFR, ITGA7, JAG1, DMP1, COL11A1, BCAM, ITGA6

HYPEROXALURIA, PRIMARY, TYPE II, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, TRIFUNCTIONAL PROTEIN DEFICIENCY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, {MELANOMA, CUTANEOUS MALIGNANT, 2}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, LACTASE PERSISTENCE/NONPERSISTENCE, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, GLUCOCORTICOID DEFICIENCY 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 I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, APPARENT MINERALOCORTICOID EXCESS, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

MYC, QDPR, GRHPR, HADH, AVP, AHCY, HSD11B2, NNT, AKT1, ABCA1, MCM6, HADHB, CDKN2A, CPS1, TP53, PHGDH, HPGD, HADHA, GPD1, ITPR3, GLUD1, NDUFV1, CYB5R3, NDUFS2

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAFFEY DISEASE, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION 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, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, SHORT SYNDROME, PLASMA FIBRONECTIN DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, GAPO SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XVII, KNIEST DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPOPHOSPHATEMIC RICKETS, AR, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, CALCIUM OXALATE UROLITHIASIS, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, IMMUNODEFICIENCY 43, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CCBE1, FLNA, BMP1, MYC, SMAD4, LAMA2, TGFB1, VWF, NOS3, COL1A1, AGT, STAT3, BMP2, COL1A2, COL6A1, ITGB2, CDH1, TP53, FGA, B2M, KRT18, IL6, PTH, IFNG, ITGA3, SPARC, PLAU, CD44, FN1, HRAS, FASLG, TNXB, MYH11, ANTXR1, COL2A1, INS, DMP1, PIK3R1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, FACTOR V DEFICIENCY, GLUCOCORTICOID RESISTANCE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HYPERCALCEMIA, INFANTILE, {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, HYPOPARATHYROIDISM FAMILIAL ISOLATED, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, PORENCEPHALY 1, OSTEOGENESIS IMPERFECTA, TYPE VIII, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ?REYNOLDS SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MANDIBULOACRAL DYSPLASIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ACUTE MYELOID LEUKEMIA, M6 TYPE, CEREBROTENDINOUS XANTHOMATOSIS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, LEPRECHAUNISM, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, CYANOSIS, TRANSIENT NEONATAL, HYPERFERRITINEMIA-CATARACT SYNDROME, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, ATRANSFERRINEMIA, BRUCK SYNDROME 2, DIAMOND-BLACKFAN ANEMIA 9, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, NEPHROTIC SYNDROME, TYPE 8, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 6}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, ?HEMOCHROMATOSIS, TYPE 5, CAFFEY DISEASE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, VITAMIN D-DEPENDENT RICKETS, TYPE I, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), MUSCULAR DYSTROPHY, CONGENITAL, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, ETHYLMALONIC ENCEPHALOPATHY, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, XANTHINURIA, TYPE I, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, CARPAL TUNNEL SYNDROME, FAMILIAL, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LATHOSTEROLOSIS, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, HEMOCHROMATOSIS TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, PLASMA FIBRONECTIN DEFICIENCY, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, ALEXANDER DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ANDROGEN INSENSITIVITY, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VI, HYPOBETALIPOPROTEINEMIA, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, AGAMMAGLOBULINEMIA 3, ERYTHROCYTOSIS, FAMILIAL, 3, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B

ISCU, FECH, HBB, APOB, LMNA, MYC, F5, LBR, CYP27A1, COL1A2, RPL5, FTL, AGT, GFAP, ACAT1, ETHE1, SLC11A2, EGLN1, COL1A1, CYP11B1, POR, ARHGDIA, CYB5R3, CYP7B1, P3H1, MAFB, CYP2R1, MMP2, APOA1, FAS, QDPR, AR, HBA1, CD79A, NOS3, PLOD3, ABCA1, PLOD1, KLKB1, PTH, IFNG, CYP11B2, HSPD1, MT-CYB, RPS10, XDH, CYP21A2, PLOD2, CYP2D6, CYP24A1, GLUD1, TMLHE, NFU1, INS, MT-CO1, CP, TTR, CALR, PPARG, CTNNB1, IGF1, COL4A1, CBS, CYP27B1, SC5D, VHL, HBG2, FOXP3, AKT1, VDR, IGF1R, UQCRC2, CYP2C9, GLI3, FN1, HAMP, TH, LYRM4, PAH, CYC1, KNG1, ITGB4, GATA4, KLF1, MT-CO2, FXN, INSR, TP53, CYP2A6, BRAF, IL6, FTH1, HCFC1, TF, EGFR, EPOR, NR3C1, NDUFS2, EPM2A, CYP17A1, MTRR, PIK3R1

D-BIFUNCTIONAL PROTEIN DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, PERRAULT SYNDROME 1, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, BURKITT LYMPHOMA, ?FANCONI RENOTUBULAR SYNDROME 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4

HADH, HADHB, MYC, HSD17B10, HSD17B4, HADHA, EHHADH

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, MIYOSHI MUSCULAR DYSTROPHY 1, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, GLYCOGEN STORAGE DISEASE XII, MANDIBULOACRAL DYSPLASIA, NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY, GLUTAMINE DEFICIENCY, CONGENITAL, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEUKODYSTROPHY, HYPOMYELINATING, 4, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, FOLATE MALABSORPTION, HEREDITARY, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, DIAMOND-BLACKFAN ANEMIA 9, PRIMARY PULMONARY HYPERTENSION, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CITRULLINEMIA, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, MALOUF SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, JOHANSON-BLIZZARD SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, DIHYDROPYRIMIDINURIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MUSCULAR DYSTROPHY, CONGENITAL, GLYCINE ENCEPHALOPATHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OCULAR ALBINISM, TYPE I, NETTLESHIP-FALLS TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, GLYCOGEN STORAGE DISEASE VII, PLASMA FIBRONECTIN DEFICIENCY, TRIMETHYLAMINURIA, CARDIOMYOPATHY, DILATED, 1A, GALACTOSE EPIMERASE DEFICIENCY, DICARBOXYLIC AMINOACIDURIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ALPHA-FETOPROTEIN DEFICIENCY, VON WILLIBRAND DISEASE, TYPE 3, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, ALEXANDER DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), SEGAWA SYNDROME, RECESSIVE, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, NEPHROTIC SYNDROME, TYPE 12, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, ANEMIA, SIDEROBLASTIC, 1, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MYOGLOBINURIA, RECURRENT, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, GLUTATHIONE SYNTHETASE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PEROXISOME BIOGENESIS DISORDER 2B, TYROSINEMIA, TYPE II, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

KCNA5, OTC, CAV3, QDPR, HNRNPA1, CTNNB1, GJA1, FOLR1, TAT, TH, SLC46A1, PEX5, SERPINA1, PTEN, DPYS, GLDC, DYSF, PTRF, TGFB1, VWF, NOS3, FTCD, GLUL, ALDOA, YARS2, CAD, CBS, GSS, STX16, MT-CO2, LMNA, GPX1, GPR143, MTOR, AKT1, FN1, GFPT1, GNMT, GALE, FHL1, IGF1R, AGXT, MUT, ASS1, DDC, MT-CYB, SUCLA2, MYC, PFKM, IL6, NUP93, UBR1, HSPD1, DHFR, HRAS, AFP, SLC1A1, EGFR, RPS10, FGG, IGF1, ALAS2, PCBD1, FMO3, GCLC, AGT, GLUD1, CPS1, GCH1, INS, MTHFR, PAH, TP53, GFAP, ATIC

HYPOBETALIPOPROTEINEMIA, {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}, SEA-BLUE HISTIOCYTE DISEASE, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TANGIER DISEASE, ALZHEIMER DISEASE-2

APOE, APOA2, APOB, APOA1, ABCA12, PCSK9, ABCA1

HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY, COMMON VARIABLE, 7, ANGIOEDEMA, HEREDITARY, TYPES I AND II, C4A DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, PLASMA FIBRONECTIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BURKITT LYMPHOMA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, MASP2 DEFICIENCY, C3 DEFICIENCY

CALR, MYC, C4A, CFB, C8A, CR2, CD59, CD46, STAT3, MASP2, KNG1, C3, FN1, SERPING1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, VLCAD DEFICIENCY, HYPERBILIVERDINEMIA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, DESMOSTEROLOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, PHYTANIC ACID STORAGE DISEASE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, SHORT SYNDROME, GREENBERG SKELETAL DYSPLASIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GLUTARICACIDURIA, TYPE I, ?REYNOLDS SYNDROME, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, BURKITT LYMPHOMA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PARAGANGLIOMAS 4, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ISOVALERIC ACIDEMIA, PEROXISOME BIOGENESIS DISORDER 2B, MYASTHENIC SYNDROME, CONGENITAL, 16, SMITH-LEMLI-OPITZ SYNDROME

SDHD, MYC, DHCR7, ACADS, SDHC, SRD5A3, LBR, SDHA, CPOX, ACADSB, SDHB, MT-CO2, GCDH, BLVRA, AKT1, PPOX, SRD5A2, UQCRC2, ACAD9, COX15, AKR1D1, DPYD, DHCR24, FANCA, PEX5, ACADM, ACADVL, PEX7, ACOX1, DHFR, IVD, PIK3R1

BARAITSER-WINTER SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, GLUTAMINE DEFICIENCY, CONGENITAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BARTTER SYNDROME, TYPE 2, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, SHORT SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CEROID LIPOFUSCINOSIS NEURONAL 6, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 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}, MIYOSHI MUSCULAR DYSTROPHY 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ALEXANDER DISEASE, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ALZHEIMER DISEASE, TYPE 4, RUBINSTEIN-TAYBI SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, VAN BUCHEM DISEASE, TYPE 2, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, DIAMOND-BLACKFAN ANEMIA 8, SPHEROCYTOSIS, TYPE 2, PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, DIAMOND-BLACKFAN ANEMIA 6, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, IMMUNODEFICIENCY 44, NEPHROTIC SYNDROME, TYPE 8, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, PSEUDOHYPOALDOSTERONISM, TYPE I, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, RABSON-MENDENHALL SYNDROME, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, POLYCYTHEMIA VERA, SOMATIC, NIEMANN-PICK DISEASE, TYPE A, TIMOTHY SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ALZHEIMER DISEASE-2, LIPOPROTEIN LIPASE DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, 2}, LACTASE PERSISTENCE/NONPERSISTENCE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, KNIEST DYSPLASIA, SMALL CELL CANCER OF THE LUNG, SOMATIC, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, WISKOTT-ALDRICH SYNDROME, MARINESCO-SJOGREN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ANDERSEN SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, ?CHARGE SYNDROME, CHARGE SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PLASMA FIBRONECTIN DEFICIENCY, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, DICARBOXYLIC AMINOACIDURIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, LEUKOCYTE ADHESION DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 3, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, SED, MAROTEAUX TYPE, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPOBETALIPOPROTEINEMIA, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, DYSAUTONOMIA, FAMILIAL, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, OMENN SYNDROME, LIPOID ADRENAL HYPERPLASIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, ABCD SYNDROME, HYPERCHYLOMICRONEMIA, LATE-ONSET, SEA-BLUE HISTIOCYTE DISEASE, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, CARPAL TUNNEL SYNDROME, FAMILIAL, SMITH-KINGSMORE SYNDROME, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

KLKB1, SOD1, CAV1, APOB, APOE, MYC, MTNR1B, FAS, PGK1, PSEN1, RPL5, SNX10, ITGB3, AGT, GFAP, PPARG, BTK, SMPD1, MCM6, FGA, IL4R, CDKN2A, MYO1E, IKBKAP, DNM2, PIK3CA, NPC1, ARHGDIA, IRS1, SMAD4, CREBBP, GNAI2, CTNNB1, RAG2, ACTA1, ACTB, APOA2, ECHS1, MMP2, APOA1, PLAU, EGFR, QDPR, CAPN3, PLA2G7, TRPV4, CD79A, PIGT, PKLR, GLUL, KCNJ1, MAPT, MTOR, SCNN1A, ABCA1, SLC1A1, GTPBP3, COL2A1, CCND1, JAK2, ATP6V1B1, KIT, CD44, IL6, GLUD1, HSPD1, SPRY2, RB1, ATP8B1, STAT3, INS, DMD, CAV3, TTR, TTPA, GJA1, DYSF, IGF1, MYBPC3, STAT1, CHD7, CASR, CETP, F10, ITGB2, AKT1, TPI1, FHL1, TP53, LRP2, DCTN1, CASP8, WNK4, FN1, TERT, SIL1, RPS7, ITPR3, SERPINA1, GSN, STAT2, ITPR2, HRAS, OTC, NME1, FLNA, PDSS2, PTRF, TGFB1, PTPN11, LPL, AHCY, DISC1, WAS, CACNA1C, INSR, NOS3, PLG, SOS1, LDLR, CPS1, DNMT1, ALDOA, ACTN4, LRP5, STAR, DOK7, ACD, CALR, KCNJ2, PTEN, EDNRB, FASLG, NCF1, STX16, SPTB, APOA5, KDR, PIK3R1

LEBER OPTIC ATROPHY AND DYSTONIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, BURKITT LYMPHOMA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ONCOCYTOMA

NDUFS3, NDUFB3, MYC, NDUFA12, MT-ND4, NDUFAF2, NDUFA1, NDUFS7, MT-ND6, NDUFS4, NDUFV2, NDUFB9, NDUFS1, MT-ND2, NDUFS6, MT-ND5, NDUFS8, NDUFA2, NDUFA9, MT-ND1, NDUFS2, NDUFA10, MT-ND3, NDUFV1

VERHEIJ SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPERFERRITINEMIA-CATARACT SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, BARTTER SYNDROME, TYPE 2, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, SELECTIVE T-CELL DEFECT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, GLUTARICACIDURIA, TYPE I, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, BARTTER SYNDROME, TYPE 4B, DIGENIC, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, MIYOSHI MUSCULAR DYSTROPHY 1, MOLYBDENUM COFACTOR DEFICIENCY A, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, SPERMATOGENIC FAILURE 5, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SEBASTIAN SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HEMOCHROMATOSIS TYPE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, ?PROGESTERONE RESISTANCE, ?REYNOLDS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, DEMENTIA, FAMILIAL DANISH, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, BRUCK SYNDROME 2, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, HPRT-RELATED GOUT, OCCIPITAL HORN SYNDROME, PEPCK DEFICIENCY, MITOCHONDRIAL, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, LIPOYLTRANSFERASE 1 DEFICIENCY, PLASMA FIBRONECTIN DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MICROVILLUS INCLUSION DISEASE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, FANCONI ANEMIA, COMPLEMENTATION GROUP O, RETINITIS PIGMENTOSA 10, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, IMMUNODEFICIENCY 44, POLYCYSTIC LIVER DISEASE, FLOATING-HARBOR SYNDROME, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, BURKITT LYMPHOMA, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CITRULLINEMIA, MYOPATHY, MYOFIBRILLAR, 5, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, LYSYL HYDROXYLASE 3 DEFICIENCY, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, [URIC ACID CONCENTRATION, SERUM, QTL1], AMYLOIDOSIS, FINNISH TYPE, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ARTS SYNDROME, ALPHA-2-MACROGLOBULIN DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, LIPOPROTEIN LIPASE DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, LIANG DISTAL MYOPATHY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, XANTHINURIA, TYPE I, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, CARPAL TUNNEL SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MENTAL RETARDATION, X-LINKED 63, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, SENGERS SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, XERODERMA PIGMENTOSUM, VARIANT TYPE, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, TRIMETHYLAMINURIA, TUBEROUS SCLEROSIS-1, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 16, LEBER CONGENITAL AMAUROSIS 1, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, HYPERLYSINEMIA, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, AGAMMAGLOBULINEMIA 4, HMG-COA SYNTHASE-2 DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIC, COENZYME Q10 DEFICIENCY, PRIMARY, 3, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, SED, MAROTEAUX TYPE, GLANZMANN THROMBASTHENIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, SEGAWA SYNDROME, RECESSIVE, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LIVER FAILURE, TRANSIENT INFANTILE, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, SACCHAROPINURIA, MAY-HEGGLIN ANOMALY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, GLUTAMINE DEFICIENCY, CONGENITAL, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), [HISTIDINEMIA], SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, PANCREATIC AGENESIS 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ATELOSTEOGENESIS, TYPE I, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, NIJMEGEN BREAKAGE SYNDROME, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, NEPHROLITHIASIS, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 4, AMINOACYLASE 1 DEFICIENCY, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, OROFACIODIGITAL SYNDROME I, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, NEPHROTIC SYNDROME, TYPE 11, PSEUDOPSEUDOHYPOPARATHYROIDISM, LEUKEMIA, CHRONIC MYELOID, SOMATIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, CHOREOACANTHOCYTOSIS, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, AICARDI-GOUTIERES SYNDROME 5, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CUTIS LAXA, AUTOSOMAL DOMINANT 3, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DYSKERATOSIS CONGENITA, X-LINKED, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, GALACTOKINASE DEFICIENCY WITH CATARACTS, PSEUDOHYPOALDOSTERONISM, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ACETYL-COA CARBOXYLASE DEFICIENCY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MALOUF SYNDROME, HARP SYNDROME, HYPOMAGNESEMIA 6, RENAL, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, MEDNIK SYNDROME, HYPEROXALURIA, PRIMARY, TYPE II, PROLIDASE DEFICIENCY, GALACTOSEMIA, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, DUCHENNE MUSCULAR DYSTROPHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MODY, TYPE II, MUSCULAR DYSTROPHY, CONGENITAL, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NEPHROTIC SYNDROME, TYPE 1, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, LEIOMYOMATOSIS AND RENAL CELL CANCER, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), LACTASE PERSISTENCE/NONPERSISTENCE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, XERODERMA PIGMENTOSUM, GROUP B, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BECKER MUSCULAR DYSTROPHY, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, EPSTEIN SYNDROME, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, CILIARY DYSKINESIA, PRIMARY, 28, APPARENT MINERALOCORTICOID EXCESS, KRABBE DISEASE, ATYPICAL, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DUBIN-JOHNSON SYNDROME, POLYGLUCOSAN BODY DISEASE, ADULT FORM, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?N SYNDROME, BLOOM SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, ERYTHROCYTOSIS, FAMILIAL, 2, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GALLBLADDER DISEASE 1, LESCH-NYHAN SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CEROID LIPOFUSCINOSIS, NEURONAL, 11, ISOVALERIC ACIDEMIA, XERODERMA PIGMENTOSUM, GROUP D, CEROID LIPOFUSCINOSIS, NEURONAL, 10, BRODY MYOPATHY, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, DIARRHEA 6, WILSON DISEASE, COCKAYNE SYNDROME, TYPE B, COENZYME Q10 DEFICIENCY, PRIMARY, 6, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, DENT DISEASE, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), ATRANSFERRINEMIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, CENTRONUCLEAR MYOPATHY 5, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OROTIC ACIDURIA, HARTSFIELD SYNDROME, MEVALONIC ACIDURIA, SITOSTEROLEMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, GLYCOGEN STORAGE DISEASE VI, ALPORT SYNDROME, AUTOSOMAL DOMINANT, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, PEROXISOME BIOGENESIS DISORDER 2B, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPLENIC HYPOPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, BARTH SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DIAMOND-BLACKFAN ANEMIA 9, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, CHYLOMICRON RETENTION DISEASE, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, COMBINED SAP DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PAPILLORENAL SYNDROME, ?PRECOCIOUS PUBERTY, CENTRAL, 1, POLYCYTHEMIA VERA, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, BURN-MCKEOWN SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, GLYCOGEN STORAGE DISEASE IXC, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, CARDIAC VALVULAR DYSPLASIA, X-LINKED, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SMALL CELL CANCER OF THE LUNG, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, PREMATURE OVARIAN FAILURE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOMAGNESEMIA 1, INTESTINAL, GLOMUVENOUS MALFORMATIONS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, [FRUCTOSURIA], 5-OXOPROLINASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIB, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, {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}, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AMYOTROPHIC LATERAL SCLEROSIS 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, [PREMATURE CHROMATID SEPARATION TRAIT], ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, SESAME SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, LIDDLE SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, MCARDLE DISEASE, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, BARTTER SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 3, D-2-HYDROXYGLUTARIC ACIDURIA, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, HYPERPROLINEMIA, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, HYPOPHOSPHATEMIC RICKETS, ?46XY SEX REVERSAL 5, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LEUKOCYTE ADHESION DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, FANCONI ANEMIA, COMPLEMENTATION GROUP T, BONE MARROW FAILURE SYNDROME 2, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, GLUTATHIONE SYNTHETASE DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HYPERPARATHYROIDISM 1, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, INTERSTITIAL LUNG AND LIVER DISEASE, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, WELANDER DISTAL MYOPATHY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, RUBINSTEIN-TAYBI SYNDROME, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, LOWE SYNDROME, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, NOONAN SYNDROME 4, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CREATINE PHOSPHOKINASE, ELEVATED SERUM, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, DESMOSTEROLOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ENHANCED S-CONE SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, AICARDI-GOUTIERES SYNDROME 6, COWCHOCK SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, MULTIPLE ENDOCRINE NEOPLASIA IIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), HYPER-IGD SYNDROME, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, UV-SENSITIVE SYNDROME 1, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), HEREDITARY PYROPOIKILOCYTOSIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, CAFFEY DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, FUMARASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLYCINE ENCEPHALOPATHY, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, XERODERMA PIGMENTOSUM, TYPE 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), CALCIUM OXALATE UROLITHIASIS, PERRAULT SYNDROME 5, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, MUCKLE-WELLS SYNDROME, FOLATE MALABSORPTION, HEREDITARY, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, HYPOPHOSPHATASIA, CHILDHOOD, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, DIAMOND-BLACKFAN ANEMIA 1, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, GLUCOCORTICOID DEFICIENCY 4, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEPHROTIC SYNDROME, TYPE 12, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, WISKOTT-ALDRICH SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, ATAXIA-OCULOMOTOR APRAXIA 4, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, MYOGLOBINURIA, RECURRENT, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, DYSAUTONOMIA, FAMILIAL, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, SMITH-KINGSMORE SYNDROME, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, NONAKA MYOPATHY, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, TSC2, RPSA, MSH6, FGFR1, GLMN, LMNA, ACADS, LBR, CUL3, CIITA, BMPR1A, ATP6V1B1, FTL, ERCC6L2, ENPP1, HNRNPDL, GSS, SDHA, MYH14, NLRP12, B2M, GALK1, LHX3, RANBP2, RAD51C, FH, AGK, PNPO, SGCG, ABCG2, POR, CYB5R3, CREBBP, LIPT1, RPS24, DYNC2H1, AQP2, PHKB, SCN4A, FGFR3, KL, NFKB2, APOA1, CDKN3, PHKA2, SLC9A3R1, TNPO3, CD79A, GNAS, THRA, DAG1, BUB1B, IGF2R, MTOR, TNNI3, ADCY10, HMGA1, ABCB7, MRE11A, AIFM1, STT3A, IRAK3, CCND1, RPS19, JAK2, RPL5, SUCLA2, SPEG, MAT1A, HSPD1, MT-CYB, ABCD4, NDUFA1, TNNT2, GPD1, HTR2A, PDE6B, GATA1, CAV3, BANF1, AGL, CTNNB1, PRPS1, NRAS, SMAD4, NLGN3, SLC34A1, IARS2, PAPSS2, CTSD, NARS2, GLDC, PNKP, GCDH, AKT1, TPI1, AIP, BLNK, SETD1A, NPHS1, ABCB4, TRMU, AGPS, A2M, STAP1, DNAH1, SOD1, HOXA11, GNE, MMAA, XRCC4, XPC, GLYCTK, ADK, POLA1, GRHPR, ASNS, PCBD1, HINT1, VPS13A, SLC46A1, OSMR, KNG1, MTPAP, LAMA2, PTPN11, LPL, GATA4, BCL10, HADHB, SLC9A3, MT-CO2, D2HGDH, SRCAP, PCCA, FMR1, COL4A3, PDHX, CLCNKB, ERCC6, NT5C3A, POMK, EGFR, MYH9, DHCR24, TF, PDX1, IVD, TERT, NR3C1, TSC1, TAP2, GCH1, PEX5, NDUFS2, PEX14, TRIM32, CYBA, TREX1, APOB, COQ9, MYC, AURKC, MTNR1B, PGK1, MOCS2, PSEN1, NPC1, GFAP, PDE11A, CCT5, WNK1, GNAI2, ACY1, MCCC2, FGA, MYH7, HADH, TRPM6, IKBKAP, NPR2, DNAH8, TRNT1, NBN, TPK1, CDC73, ARHGDIA, IRS1, ADAR, CAPN3, NR2E3, AARS2, IL2RG, RPIA, RYR2, KIF1A, LHX4, LDHA, MMP2, PLAU, CLCNKA, GUCY2D, HBA1, VWF, PKLR, ATP2A1, ERCC3, CBS, ITGB4, GPI, POLG, PRODH, SUCLG1, GTPBP3, GK, EARS2, PTH, VPS33B, MEN1, ETFDH, CASR, FANCA, XDH, RB1, FGF23, BDNF, STAT3, FANCD2, BRAF, DMD, PIGR, NCF1, CALR, ALPL, MMAB, IGF1, DNAJB6, SMAD9, MYBPC3, NEUROD1, GMPPB, TAZ, AASS, UBE2T, BMP2, F10, HSD11B2, GBE1, TXNL4A, VDR, ASCL1, NAGLU, MUT, ETFA, IRS2, LRP2, CASP8, WNK4, BSND, SARS2, HK1, BVES, TJP2, FARS2, AKAP10, ATP13A2, POLH, KIT, BCR, NDUFV1, OTC, PEX1, AR, SETX, KRT8, PRKCSH, TGFB1, PEPD, FTH1, RRAS2, DRD3, CARS2, STAT1, APPL1, PARK2, HADHA, SLC2A4, TP53, BLM, DNMT1, ACTN4, IL6, ITM2B, OFD1, APC, DHFR, MAPT, ALDH18A1, NLRP3, CDH1, HPGD, C10orf2, GCLC, SKIV2L, ATIC, DYRK1B, SPTA1, ATRX, FAS, SQSTM1, MAPK8IP1, PEX6, AP2S1, CAV1, NTF3, AGT, SEPT9, MTHFR, DNAH5, PCK2, MCM6, NADK2, STK11, SELP, LIPE, MBL2, FBP1, COL1A1, FANCM, PIK3CA, GALT, ABCD1, ACSL4, SPAG1, SIL1, POLD1, HNRNPA1, GFPT1, MTO1, FMO3, ABCB6, NUBPL, ACTA1, ACTB, ITPR3, LIG4, SCNN1G, QDPR, ABCB11, CLCN5, GRN, NOS3, PARN, DCLRE1C, KCNJ1, TIA1, CAD, MYD88, ADCK3, SCNN1A, NTRK1, COL1A2, NNT, GFM1, ABCA1, PLOD1, DGUOK, PLOD3, PSMB8, APTX, MET, ACAD9, PNPLA8, DNM1L, ANLN, PFKM, DPYD, TMEM173, SPRY2, GUCY2C, IFNG, NKX2-1, ATP8B1, PANK2, WAS, VCP, HAO1, INS, ABCC8, PCCB, CD44, YARS2, DAO, HPRT1, AMHR2, HSD17B10, SDHD, SLC22A5, PAX2, LMX1B, TSFM, CNTN1, TXN2, VHL, BCS1L, KIF1B, TNFRSF1A, PPOX, ITGB2, TMEM165, FN1, CNNM2, CYBB, ITPR2, FLNB, ACACA, KLF1, ATP5A1, AKT2, PHGDH, DCTN1, PTS, FECH, RPS10, DBT, MCCC1, TTN, PTPN1, ACADSB, PTEN, TRPV4, ABCD3, GSN, STAT2, TK2, FAH, SSR4, IGF2BP2, PDSS2, CHEK2, PUF60, PHKG2, KCNJ10, JAK3, ATP7A, ABCG5, ERCC4, DKC1, NEK1, SAMHD1, SOS1, MYO1E, UQCRB, SCN5A, NDUFA10, CBX2, ZHX2, ACD, PLOD2, TARS2, MOCS1, HRAS, KHK, COQ6, OCLN, ZAP70, TINF2, HMGCS2, TUFM, ETFB, BRCA2, MARS2, HLCS, OPLAH, APRT, CNBP, ACOX1, PIGT, DNM2, TAP1, ITGB3, STK10, RNASEH1, PPARG, OAT, PRKAR1A, KISS1R, BTK, ING1, PLG, CDKN2A, KCNN4, IBA57, NEU1, HAL, ERCC2, OAS1, DLD, UMPS, OCRL, ABCC2, IMPDH1, MATR3, APOA2, DGKE, KRAS, ABCA12, SYN2, DNAJC5, WRN, CPOX, LMNB1, LPIN1, PGR, AGXT, HELLS, BCKDHA, COPA, KRT18, CLCN7, MRPL44, ASS1, NSUN2, HLA-DRB1, RELN, CRYAB, NCF2, AP1S1, THRB, NUP107, CLPB, ITK, ACADVL, GLUD1, SEC23B, PCK1, BMPR2, PLIN1, TTR, RET, KCNJ11, GNA11, GJA1, DYSF, HNF4A, SPR, SGCA, MECP2, MVK, CHD7, NLRC4, GCK, MYO5B, SMARCAL1, PYGM, TH, GALE, DNAH11, NDUFS1, MRPL3, BRCA1, IGF1R, UQCRC2, SEC63, PHOX2B, SLC25A4, NUP93, MCM4, CDKN1C, ATP7B, OGDH, SEMA3E, ACADM, DDOST, AXIN1, PNPT1, PAH, SUMF1, CYC1, NME1, FLNA, STX16, PSAP, MCM9, HSD17B4, PDHA1, PYGL, ATM, ING3, LRPPRC, AVP, DISC1, AHCY, PRKACA, INSR, NOTCH1, CPS1, DNA2, MARS, RPL11, GLUL, FANCC, RTEL1, FLNC, PEX19, MTRR, POLR2F, FASLG, RARS2, DNMT3B, SAR1B, CFTR, MYH11, MTHFD1, NHP2, CHKB, GCGR, KDR, PC, CORO1A, PIK3R1

L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPERFERRITINEMIA-CATARACT SYNDROME, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, {THIOPURINES, POOR METABOLISM OF, 1}, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, MUSCLE GLYCOGENOSIS, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, DUCHENNE MUSCULAR DYSTROPHY, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, FACTOR V DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 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, HPRT-RELATED GOUT, SPERMATOGENIC FAILURE 5, HYPOPARATHYROIDISM FAMILIAL ISOLATED, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MEDULLARY CYSTIC KIDNEY DISEASE 1, CEROID LIPOFUSCINOSIS, NEURONAL, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?PROGESTERONE RESISTANCE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, ?REYNOLDS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, ATAXIA-TELANGIECTASIA-LIKE DISORDER, GAUCHER DISEASE, TYPE IIIC, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, VAN BUCHEM DISEASE, TYPE 2, ATRIOVENTRICULAR SEPTAL DEFECT 3, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, OCCIPITAL HORN SYNDROME, PEPCK DEFICIENCY, MITOCHONDRIAL, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, RIPPLING MUSCLE DISEASE, LIPOYLTRANSFERASE 1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, [BILIRUBIN, SERUM LEVEL OF, QTL1], IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, ATRANSFERRINEMIA, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, POLYCYSTIC LIVER DISEASE, FLOATING-HARBOR SYNDROME, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MYOPATHY, MYOFIBRILLAR, 5, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, SEBASTIAN SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TYROSINEMIA, TYPE I, AMYLOIDOSIS, FINNISH TYPE, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, NAIL-PATELLA SYNDROME, ARTS SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, COPROPORPHYRIA, HARDEROPORPHYRIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIANG DISTAL MYOPATHY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CARPAL TUNNEL SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MYOPATHY, MYOFIBRILLAR, 4, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, SENGERS SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HMG-COA SYNTHASE-2 DEFICIENCY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, GABA-TRANSAMINASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, [GILBERT SYNDROME], PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 16, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, LEBER CONGENITAL AMAUROSIS 1, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MUCOLIPIDOSIS III ALPHA/BETA, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HYPERLYSINEMIA, IMAGE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MENKES DISEASE, XERODERMA PIGMENTOSUM, VARIANT TYPE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, LIDDLE SYNDROME, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIC, PLASMA TRIGLYCERIDE LEVEL QTL, LOW, COENZYME Q10 DEFICIENCY, PRIMARY, 3, SACCHAROPINURIA, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, MCARDLE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, SEGAWA SYNDROME, RECESSIVE, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, LEUKEMIA, CHRONIC MYELOID, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, DYSAUTONOMIA, FAMILIAL, OSTEOLYSIS, FAMILIAL EXPANSILE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, LIVER FAILURE, TRANSIENT INFANTILE, ANEMIA, SIDEROBLASTIC, 1, XERODERMA PIGMENTOSUM, GROUP B, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, GAUCHER DISEASE, TYPE I, ?DIARRHEA 7, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, TYROSINEMIA, TYPE II, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, BARAITSER-WINTER SYNDROME 1, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, PANCREATIC AGENESIS 1, ATELOSTEOGENESIS, TYPE I, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, NIJMEGEN BREAKAGE SYNDROME, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, GLANZMANN THROMBASTHENIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 4, AMINOACYLASE 1 DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, MUCOLIPIDOSIS II ALPHA/BETA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ALPHA-2-MACROGLOBULIN DEFICIENCY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CUTIS LAXA, AUTOSOMAL DOMINANT 3, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, DYSKERATOSIS CONGENITA, X-LINKED, PRIMARY PULMONARY HYPERTENSION, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, GALACTOKINASE DEFICIENCY WITH CATARACTS, PSEUDOHYPOALDOSTERONISM, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ALPHA-METHYLACETOACETIC ACIDURIA, MALOUF SYNDROME, HARP SYNDROME, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MEDNIK SYNDROME, PROLIDASE DEFICIENCY, GALACTOSEMIA, TRICHOHEPATOENTERIC SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MODY, TYPE II, CRIGLER-NAJJAR SYNDROME, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, {MELANOMA, CUTANEOUS MALIGNANT, 2}, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, NEPHROTIC SYNDROME, TYPE 1, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), LACTASE PERSISTENCE/NONPERSISTENCE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, ?MUCOPOLYSACCHARIDOSIS TYPE IX, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, BECKER MUSCULAR DYSTROPHY, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, ALAGILLE SYNDROME, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, EPSTEIN SYNDROME, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), KRABBE DISEASE, ATYPICAL, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, POLYGLUCOSAN BODY DISEASE, ADULT FORM, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, GELEOPHYSIC DYSPLASIA 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PYRUVATE DEHYDROGENASE E2 DEFICIENCY, LESCH-NYHAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, LYMPHOPROLIFERATIVE SYNDROME 1, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, FACTOR XIIIA DEFICIENCY, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, METHYLMALONIC ACIDURIA, MUT(0) TYPE, SEA-BLUE HISTIOCYTE DISEASE, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, DIAMOND-BLACKFAN ANEMIA 1, GAUCHER DISEASE, TYPE II, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4, ?ACAT2 DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NEPHROTIC SYNDROME, TYPE 9, DIARRHEA 6, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), COENZYME Q10 DEFICIENCY, PRIMARY, 6, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, FECHTNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, SC PHOCOMELIA SYNDROME, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, ?MENTAL RETARDATION, X-LINKED 91, IMMUNODEFICIENCY 44, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, CENTRONUCLEAR MYOPATHY 5, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, JOHANSON-BLIZZARD SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, OROTIC ACIDURIA, HARTSFIELD SYNDROME, WHITE SPONGE NEVUS 1, MEVALONIC ACIDURIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, NORUM DISEASE, GLYCOGEN STORAGE DISEASE VI, ALPORT SYNDROME, AUTOSOMAL DOMINANT, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, SPLENIC HYPOPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, GREENBERG SKELETAL DYSPLASIA, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, BARTH SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, PEROXISOME BIOGENESIS DISORDER 2B, YUNIS-VARON SYNDROME, SHORT SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, BURN-MCKEOWN SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, COMBINED SAP DEFICIENCY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PAPILLORENAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, POLYCYTHEMIA VERA, SOMATIC, ROBERTS SYNDROME, BURKITT LYMPHOMA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, GLYCOGEN STORAGE DISEASE IXC, GLYCOGEN STORAGE DISEASE XI, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, GLYCOGEN STORAGE DISEASE 0, LIVER, METHYLMALONIC ACIDURIA CBLB TYPE, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SMALL CELL CANCER OF THE LUNG, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, [SARCOSINEMIA], MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, PREMATURE OVARIAN FAILURE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOMAGNESEMIA 1, INTESTINAL, GLOMUVENOUS MALFORMATIONS, COENZYME Q10 DEFICIENCY, PRIMARY, 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, [FRUCTOSURIA], HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, FISH-EYE DISEASE, PLASMA FIBRONECTIN DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIB, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ?N SYNDROME, ALPORT SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, [PREMATURE CHROMATID SEPARATION TRAIT], ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SESAME SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, CPT DEFICIENCY, HEPATIC, TYPE IA, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MAY-HEGGLIN ANOMALY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, OROFACIODIGITAL SYNDROME I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ACROMICRIC DYSPLASIA, CEREBROOCULOFACIOSKELETAL SYNDROME 4, AICARDI-GOUTIERES SYNDROME 5, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ?46XY SEX REVERSAL 5, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LEUKOCYTE ADHESION DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, FANCONI ANEMIA, COMPLEMENTATION GROUP T, GLUTARIC ACIDURIA III, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, DIABETES INSIPIDUS, NEPHROGENIC, ATELEIOTIC DWARFISM, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, HYPERPARATHYROIDISM 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, GLUCOCORTICOID RESISTANCE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, INTERSTITIAL LUNG AND LIVER DISEASE, MUCOLIPIDOSIS III GAMMA, GALLBLADDER DISEASE 1, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, DIAMOND-BLACKFAN ANEMIA 3, MYOPATHY, MYOFIBRILLAR, 2, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), WELANDER DISTAL MYOPATHY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, COENZYME Q10 DEFICIENCY, PRIMARY, 7, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, GM1-GANGLIOSIDOSIS, TYPE II, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, RUBINSTEIN-TAYBI SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SMITH-LEMLI-OPITZ SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, DESMOSTEROLOSIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, ENHANCED S-CONE SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, AICARDI-GOUTIERES SYNDROME 6, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, MULTIPLE ENDOCRINE NEOPLASIA IIA, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), HYPER-IGD SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MACULAR CORNEAL DYSTROPHY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, HEREDITARY PYROPOIKILOCYTOSIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, CAFFEY DISEASE, FUMARASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, CRIGLER-NAJJAR SYNDROME, TYPE II, GLYCINE ENCEPHALOPATHY, ALZHEIMER DISEASE-2, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, XERODERMA PIGMENTOSUM, TYPE 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, GAUCHER DISEASE, TYPE III, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), CALCIUM OXALATE UROLITHIASIS, PERRAULT SYNDROME 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, IMMUNODEFICIENCY 8, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, HYPERTHYROIDISM, NONAUTOIMMUNE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?N-ACETYLASPARTATE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, MYOPATHY DUE TO CPT II DEFICIENCY, ANDROGEN INSENSITIVITY, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, ALEXANDER DISEASE, HYPOPHOSPHATASIA, CHILDHOOD, CPT DEFICIENCY, HEPATIC, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, HEMOCHROMATOSIS TYPE 1, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, WISKOTT-ALDRICH SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, ATAXIA-OCULOMOTOR APRAXIA 4, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, MYOGLOBINURIA, RECURRENT, ?GLYCOGEN STORAGE DISEASE XIII, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, SMITH-KINGSMORE SYNDROME, [ACETYLATION, SLOW], SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, NONAKA MYOPATHY

TSC2, RPL5, DNA2, MSH6, PLOD3, GLMN, LMNA, GPT2, DNM2, LBR, CUL3, CIITA, COL3A1, ATP6V1B1, FTL, POLD1, ALG3, CLN3, GLYCTK, B2M, GALK1, LHX3, RANBP2, ESCO2, TERT, FH, AGK, G6PC, POMGNT1, WNK1, SGCG, RPS19, NTRK1, BCKDHB, CREBBP, LIPT1, RPS24, TRMT5, AQP2, SUGCT, GCM2, F13A1, KL, NFKB2, APOA1, CDKN3, PHKA2, AR, ENO3, POLG2, THRA, DAG1, BUB1B, IGF2R, ABAT, TNNI3, HMGA1, MGAT2, ALG11, BMPR1A, CD27, MRE11A, AIFM1, STT3A, IRAK3, CCND1, JAK2, AP2S1, SUCLA2, SPEG, MAT1A, GALNT3, HSPD1, TNNT2, ALAS2, HTR2A, NAT8L, NDUFA10, GAMT, MT-CO1, CHST6, CAV3, BANF1, ALDOA, AGL, CTNNB1, PRPS1, TAT, SUFU, SMAD4, NLGN3, KRT4, SLC34A1, PAPSS2, ARG1, GLDC, PNKP, AKT1, TPI1, AIP, LRPPRC, NPHS1, ABCB4, TRMU, COX15, AGPS, ACAT2, A2M, CDH1, B4GAT1, SOD1, GNE, ACTB, XRCC4, XPC, ADK, POLA1, HMBS, PIGA, LRP5, FGF23, HINT1, KNG1, MTPAP, NPHP1, SRCAP, GATA4, BCL10, COMT, HMGCS2, MT-CO2, PDSS1, PTPN11, NDUFS4, TPK1, LCAT, FKTN, FKRP, GMPPA, ZMPSTE24, BDNF, NT5C3A, AMT, PHKA1, POMK, FANCL, EGFR, MYH9, DHCR24, TF, FBP1, NR3C1, TSC1, PEX5, B3GALNT2, PEX14, GNPTAB, ARHGDIA, APOB, MYC, AURKC, CPT2, NHLRC1, MTNR1B, PGK1, MOCS2, PSEN1, DGUOK, ALPL, GFAP, ITGA2B, MYH7, HADH, TRPM6, COL4A5, IKBKAP, NPR2, BLNK, TRNT1, GNMT, NBN, CDC73, LIAS, DLD, MITF, IGF1, NRAS, NR2E3, RBCK1, SLC9A3, CD81, LHX4, FIG4, ANGPTL4, MMP2, PLAU, PIGM, GUCY2D, HBA1, NOTCH1, ERCC3, COL4A3, TTC37, CORO1A, FGFR1, POLG, UBR1, SUCLG1, GTPBP3, GK, EARS2, PTH, MEN1, MCPH1, FANCA, RB1, TNFRSF11A, STAT3, FANCD2, BRAF, DMD, PIGR, NCF1, B4GALT7, PDGFRL, GNPTG, PHKB, MMAB, ADAR, ALG1, SMAD9, MYBPC3, NEUROD1, MRPS16, GMPPB, TAZ, AASS, UBE2T, TNFAIP3, BMP2, HRAS, DMGDH, LIG4, TXNL4A, VDR, ASCL1, DRD3, MUT, TP53, LRP2, CASP8, MAPK8IP1, DGAT1, HK1, FARS2, NAGS, AKAP10, POLH, KIT, BCR, AGPAT2, OTC, MTFMT, TPMT, PDHX, KCNJ10, TGFB1, TYMP, TSHR, FTH1, DTNBP1, MTR, PARK2, IGF1R, SLC2A4, ADCK4, ETFA, BLM, DNMT1, GBE1, ACTN4, IL6, OFD1, B4GALT1, HCFC1, APC, ISPD, MAPT, ALDH18A1, CFD, C10orf2, MTOR, ATIC, DYRK1B, SPTA1, UGT1A1, STT3B, FAS, SQSTM1, WNK4, CTSA, MUC1, CAV1, AGT, PCK2, MCM6, NADK2, STK11, LIPE, PNPLA2, COL1A1, FANCM, PIK3CA, UGT1A4, JAG1, HADHA, CNBP, CDKAL1, GFPT1, COL2A1, ZDHHC15, NUBPL, ACTA1, F5, RSPO1, SCNN1G, NDUFAF6, COQ4, ABCB11, GRN, NOS3, TIA1, CAD, MYD88, ADCK3, SCNN1A, GALT, TK2, ABCA1, ICOS, HGSNAT, MET, PFKM, FKBP14, TMEM173, SPRY2, PTPN1, IFNG, ALG6, NKX2-1, PANK2, WAS, INS, KCNA5, APOE, CD44, ITGB3, DAO, ACAT1, HPRT1, AMHR2, HSD17B10, SDHD, PAX2, LMX1B, TJP2, CNTN1, TXN2, VHL, HNF4A, KIF1B, TNFRSF1A, BRCA1, ITGB2, HIBCH, FN1, ITPR2, FLNB, COQ2, KLF1, ATP5A1, AKT2, PTS, RPSA, DBT, ACY1, DPM2, TTN, GUCY2C, ACADSB, PTEN, FGFR3, SLC9A3R1, GSN, STAT2, COX10, FAH, SERPINC1, PDSS2, BAAT, CHEK2, DHCR7, DPM1, PHKG2, JAK3, PCBD1, ATP7A, SARDH, DKC1, NEK1, SAMHD1, PEPD, SOS1, GATM, AMH, CBX2, GBA, SARS2, FASTKD2, ACD, STX11, TRH, DLAT, F10, KHK, IRS2, MTAP, NDUFAF5, OCLN, ZAP70, BAG3, OAS1, TINF2, TUFM, ALG13, AVP, GATA1, BRCA2, USP8, TPP1, PIGV, APRT, PRPH, RAG1, PIGT, ERCC1, GLB1, STK10, PPARG, INSR, OAT, PRKAR1A, SLC35A2, BTK, PLG, CDKN2A, KCNN4, IBA57, NEU1, ALG2, TRIM32, PIGO, EMD, UMPS, GYS2, THRB, IRS1, PTCH1, CHD7, KRAS, NKX2-5, WRN, HYAL1, ZHX2, CPOX, LMNB1, LTC4S, COQ6, PGR, AGXT, CPT1A, BCKDHA, COPA, KRT18, GNAI2, MRPL44, RPL11, NR0B1, NSUN2, STAT1, RELN, FMR1, CRYAB, AP1S1, MAX, CLPB, POMT2, ITK, GLUD1, SEC23B, BMPR2, PLIN1, TTR, RET, GJA1, FTCD, PIGW, BCS1L, LDHA, SGCA, MECP2, MVK, CASR, GCK, PYGM, FOXP3, TH, GALE, HADHB, NDUFS1, MRPL3, VCP, UQCRC2, FASLG, PHOX2B, SLC25A4, GPD2, POMT1, PSAT1, CDKN1C, DNMT3B, OGDH, LDB3, ITPR3, DDOST, AXIN1, PNPT1, SKIV2L, SUMF1, SELP, NME1, FLNA, STX16, PSAP, HCCS, RNF168, HSD17B4, FLNC, PDHA1, PYGL, ATM, SETD1A, NSD1, NLRP3, PRKACA, NAT2, PKLR, CPS1, MARS, GNPAT, GCH1, FANCC, FBN1, DPAGT1, PEX19, PNP, DGKE, POLR2F, DOLK, ITGA7, GCSH, CYC1, CFTR, MYH11, MTHFD1, CHKB, PDX1, KDR, PC, PIGN, PIK3R1

BARAITSER-WINTER SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERPARATHYROIDISM 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?ACAT2 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), BARTH SYNDROME, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), SC PHOCOMELIA SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?MENTAL RETARDATION, X-LINKED 91, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ALZHEIMER DISEASE, TYPE 4, PITUITARY ADENOMA, ACTH-SECRETING, RUBINSTEIN-TAYBI SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, NORUM DISEASE, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, BECKWITH-WIEDEMANN SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, FLOATING-HARBOR SYNDROME, BURKITT LYMPHOMA, ALPHA-METHYLACETOACETIC ACIDURIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), POLYCYTHEMIA VERA, SOMATIC, ROBERTS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ALPHA-2-MACROGLOBULIN DEFICIENCY, GLYCINE ENCEPHALOPATHY, TRIFUNCTIONAL PROTEIN DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, 2}, IMAGE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?N-ACETYLASPARTATE DEFICIENCY, SMALL CELL CANCER OF THE LUNG, SOMATIC, THYROTROPIN-RELEASING HORMONE DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PERRAULT SYNDROME 5, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, FISH-EYE DISEASE, PLASMA FIBRONECTIN DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, GLYCOGEN STORAGE DISEASE XI, HMG-COA SYNTHASE-2 DEFICIENCY, MYOPATHY DUE TO CPT II DEFICIENCY, ?N SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CPT DEFICIENCY, HEPATIC, TYPE II, ERYTHROCYTOSIS, FAMILIAL, 2, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PYRUVATE DEHYDROGENASE E2 DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ADRENOCORTICOTROPIC HORMONE DEFICIENCY, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, ANEMIA, SIDEROBLASTIC, 1, FACTOR XIIIA DEFICIENCY, ?DIARRHEA 7, CPT II DEFICIENCY, LETHAL NEONATAL, [ACETYLATION, SLOW], {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, SMITH-KINGSMORE SYNDROME

ACTA1, PEX14, LDHA, NAGS, SUCLG1, ACAT1, CTNNB1, HINT1, NDUFS1, HCCS, PIGW, SMAD4, NAT8L, MTHFD1, HSD17B4, BRCA2, GCSH, TGFB1, PEX19, SRCAP, PPARG, ATM, AGPAT2, PDHX, KRAS, IL6, CPT1A, HSPD1, MTOR, VHL, HMGCS2, PEX5, SELP, NAT2, PSEN1, DBT, C10orf2, FN1, HADHA, JAK2, HADHB, BAAT, CREBBP, ACTN4, HGSNAT, CDKN2A, GNPAT, LCAT, ESCO2, SUCLA2, INS, PNPLA2, TAZ, TRH, MYC, DLAT, ACAT2, TP53, A2M, CDKN1C, CDC73, DGAT1, OGDH, DLD, ACTB, ZDHHC15, F13A1, HCFC1, TBX19, MYD88, CIITA, CPT2, LIPT1, POLA1, GNAI2, POLD1, ALAS2, TUFM, RB1, NUBPL

BARAITSER-WINTER SYNDROME 1, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BARTTER SYNDROME, TYPE 2, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, WILSON DISEASE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACRODERMATITIS ENTEROPATHICA, MYOPATHY, DISTAL, 4, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, FECHTNER SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, MYOPATHY, TUBULAR AGGREGATE, 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPOPHOSPHATASIA, INFANTILE, NEPHRONOPHTHISIS 1, JUVENILE, EPISODIC ATAXIA/MYOKYMIA SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, STORMORKEN SYNDROME, ALZHEIMER DISEASE, TYPE 4, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ALPHA-2-MACROGLOBULIN DEFICIENCY, BILE ACID MALABSORPTION, PRIMARY, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL CYSTS AND DIABETES SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ALAND ISLAND EYE DISEASE, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, ENHANCED S-CONE SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSONISM-DYSTONIA, INFANTILE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, ATRANSFERRINEMIA, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, GLUCOSE/GALACTOSE MALABSORPTION, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SEBASTIAN SYNDROME, BURKITT LYMPHOMA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, HARTNUP DISORDER, BRUGADA SYNDROME 9, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, MUCOLIPIDOSIS IV, THYROID DYSHORMONOGENESIS 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, HEREDITARY PYROPOIKILOCYTOSIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, TIMOTHY SYNDROME, HARTSFIELD SYNDROME, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, DUCHENNE MUSCULAR DYSTROPHY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, IMMUNODEFICIENCY 8, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NEPHROTIC SYNDROME, TYPE 2, HEMOCHROMATOSIS, TYPE 4, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOKALEMIC PERIODIC PARALYSIS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, EPSTEIN SYNDROME, HYPOMAGNESEMIA 1, INTESTINAL, MYOPATHY, TUBULAR AGGREGATE, 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PLASMA FIBRONECTIN DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 16, LEBER CONGENITAL AMAUROSIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IMINOGLYCINURIA, DIGENIC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, NAIL-PATELLA SYNDROME, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, GLYCOGEN STORAGE DISEASE XI, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, DICARBOXYLIC AMINOACIDURIA, HYPERALDOSTERONISM, FAMILIAL, TYPE III, MENKES DISEASE, SESAME SYNDROME, LIDDLE SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, ALEXANDER DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SED, MAROTEAUX TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOPHOSPHATASIA, CHILDHOOD, SEGAWA SYNDROME, RECESSIVE, HYPERPROLINEMIA, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, PAGET DISEASE OF BONE 3, LEUKEMIA, CHRONIC MYELOID, SOMATIC, HYPOBETALIPOPROTEINEMIA, OSTEOLYSIS, FAMILIAL EXPANSILE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, LIPOID ADRENAL HYPERPLASIA, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, [URIC ACID CONCENTRATION, SERUM, QTL4], {GOUT SUSCEPTIBILITY 4}, MAY-HEGGLIN ANOMALY, CEROID LIPOFUSCINOSIS, NEURONAL, 10, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], HYPOMAGNESEMIA 2, RENAL, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

CA2, SLC34A1, CAV1, TNNI3, SPTA1, KCNJ10, TSC2, MYC, NPHS2, ACTB, SLC17A3, SQSTM1, PSEN1, ALPL, AGT, GFAP, SLC6A3, SLC11A2, SLC5A1, CTNNB1, RYR2, B2M, SLC6A20, KCNA1, TRPM6, SLC6A8, TH, MYH9, FGG, CAPN3, SLC5A5, NR2E3, SLC9A3, SLC6A19, APOB, MCOLN1, SCN4A, TRPV4, SCNN1G, SERPINA1, ABCB11, DNAJC5, SLC39A4, NOS3, ATP2A1, KCNJ1, SORT1, CACNA1D, FGFR1, SCNN1A, KCND3, SLC1A1, ORAI1, MAFB, CCND1, PTH, CACNA1F, SLC30A8, SUCLA2, NKX2-1, CNTN5, HSPD1, TNFRSF1A, CACNA1S, TNFRSF11A, CLDN16, FXYD2, ACD, ABCC8, CTSD, BMPR2, KCNA5, CAV3, STIM1, FLNC, KCNJ11, GJA1, KCNN4, HNF1B, IGF1, NLGN3, LDHA, SCNN1B, SMAD9, PRODH, LMX1B, TJP2, PSEN2, CNTN1, DMD, KCNJ5, AKT1, ITPR2, CFTR, TP53, SEC63, EGFR, SLC9A3R1, A2M, FN1, ATP7B, SLC20A2, PTEN, ITPR3, AKAP10, BCR, DAG1, GUCY2D, FLNA, CORO1A, SLC40A1, HCCS, SLC12A6, KNG1, NPHP1, TGFB1, SLC34A3, PTPN11, SCN5A, VCP, SLC39A13, STAT3, PRKACA, CACNA1C, SCN9A, SOS1, LDLR, SLC39A8, STAR, PCSK9, INS, STX11, TF, KCNJ2, LRP2, SLC10A2, ATP7A, CALR, KDR, RYR1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, LIPOPROTEIN LIPASE DEFICIENCY, ABETALIPOPROTEINEMIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, COMBINED HYPERLIPIDEMIA, FAMILIAL, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, NIEMANN-PICK DISEASE TYPE C1, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ALZHEIMER DISEASE-2, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, GM2-GANGLIOSIDOSIS, AB VARIANT, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, IMMUNODEFICIENCY 43, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCOTT SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, C3 DEFICIENCY, {METABOLIC SYNDROME, PROTECTION AGAINST}, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 2, RUBINSTEIN-TAYBI SYNDROME, HYPOBETALIPOPROTEINEMIA, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, CARPAL TUNNEL SYNDROME, FAMILIAL, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MELANOMA, CUTANEOUS MALIGNANT, 2}, PSEUDOHYPOPARATHYROIDISM IA, SEA-BLUE HISTIOCYTE DISEASE, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, BILE ACID MALABSORPTION, PRIMARY, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY

APOE, TTR, APOA2, APOB, APOA1, SSR4, ABCA12, ATP8B1, ABCB11, RFT1, GNAS, LPL, MFSD2A, CFTR, ANO6, PPARG, NPC1, SLCO2A1, ABCA1, B2M, CDKN2A, MTTP, TP53, CALR, SPRY2, C3, AKT1, ABCD1, SLC10A2, RBP4, CREBBP, SLC9A3R1, GM2A, INS, CETP

BARAITSER-WINTER SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, FACTOR V DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ENTEROKINASE DEFICIENCY, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT FACTOR D DEFICIENCY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, {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}, CEROID LIPOFUSCINOSIS, NEURONAL, 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ALPHA-2-MACROGLOBULIN DEFICIENCY, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, C3 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 8, HEMOCHROMATOSIS, TYPE 2B, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, HEMOPHILIA A, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IRON-REFRACTORY IRON DEFICIENCY ANEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, CAFFEY DISEASE, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, ALZHEIMER DISEASE-2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, COMBINED FACTOR V AND VIII DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, TRYPSINOGEN DEFICIENCY, FACTOR XIIIA DEFICIENCY, SMALL CELL CANCER OF THE LUNG, SOMATIC, HEMOPHILIA B, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MODY, TYPE III, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PLASMA FIBRONECTIN DEFICIENCY, ANGIOEDEMA, HEREDITARY, TYPES I AND II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, FACTOR VII DEFICIENCY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MASP2 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, C1R/C1S DEFICIENCY, COMBINED, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, SEA-BLUE HISTIOCYTE DISEASE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, NEU1, CAV1, APOB, MYC, ACTB, IGF2R, RPS7, CTSA, TMPRSS15, TPP1, AGT, GGCX, CDH1, FGA, ING1, MASP2, COL1A1, LMAN1, AR, SERPING1, SMAD4, CREBBP, HLA-DQA1, IRS1, HMGCS2, PRSS2, F7, MMP2, PLAU, SERPINA1, NME1, NOS3, MTOR, CTRC, COL1A2, ABCA1, PROC, KLKB1, IFNG, RELN, C3, FKBP14, RB1, GP9, STAT3, INS, IGF1, HSD17B10, VWF, C1R, CFB, BMP2, ITGB2, AKT1, PCSK1, CFI, LDLR, IRS2, CASP8, A2M, FN1, TERT, HNF1A, PRSS1, F13A1, HAMP, LYZ, F5, F9, TMPRSS6, KNG1, TGFB1, CFD, F8, PLG, TP53, IL6, PCSK9, TRH, CTNS, APC, F10, EGFR, ADA, SELP, MYH11, CD46, KDR, HFE

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, SEA-BLUE HISTIOCYTE DISEASE, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THYROID DYSHORMONOGENESIS 2A, THYROID DYSHORMONOGENESIS 4, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ALZHEIMER DISEASE-2, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, THRYOID DYSHORMONOGENESIS 6, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, CARPAL TUNNEL SYNDROME, FAMILIAL, TANGIER DISEASE, [EOSINOPHIL PEROXIDASE DEFICIENCY], HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, MYELOPEROXIDASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, RUBINSTEIN-TAYBI SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES

APOE, TTR, HBB, PPARG, APOA1, SOD1, HSD17B10, ATM, AGT, LTC4S, EPX, BMP2, DUOX2, HRAS, TP53, DNMT1, IL6, TANGO2, IYD, NCF1, MPO, FKBP14, GPX1, CREBBP, PIK3R1, INS, SELP, TPO

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BARAITSER-WINTER SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, LEPRECHAUNISM, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, SHORT SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MULTIPLE ENDOCRINE NEOPLASIA IIB, GLUCOCORTICOID RESISTANCE, GLANZMANN THROMBASTHENIA, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RABSON-MENDENHALL SYNDROME, ?PROGESTERONE RESISTANCE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

PTPN1, IL4R, ITGB3, IGF1R, ENPP1, PIK3R1, IRS1, ACTB, EGFR, NR3C1, PGR, INS, IGF1, MYC, RET, LMBRD1, KIT, DOK7, IRS2, PTPN11, INSR

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, REVESZ SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, BECKER MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, SHORT SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, WERNER SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, FECHTNER SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, 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}, HERMANSKY-PUDLAK SYNDROME 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, KOWARSKI SYNDROME, ?PROGESTERONE RESISTANCE, AGAMMAGLOBULINEMIA, X-LINKED 1, LARON DWARFISM, ALZHEIMER DISEASE, TYPE 4, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, IMMUNODEFICIENCY 44, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RIPPLING MUSCLE DISEASE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ANDROGEN INSENSITIVITY, MICROVILLUS INCLUSION DISEASE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PITUITARY DEPENDENT HYPERCORTISOLISM, DIAMOND-BLACKFAN ANEMIA 6, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, NEPHROTIC SYNDROME, TYPE 8, KENNY-CAFFEY SYNDROME, TYPE 1, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PRIMARY PULMONARY HYPERTENSION, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SEBASTIAN SYNDROME, BURKITT LYMPHOMA, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, MEDNIK SYNDROME, POLYCYTHEMIA VERA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, BANNAYAN-RILEY-RUVALCABA SYNDROME, HYPERLYSINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, DIARRHEA 6, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, CARDIAC VALVULAR DYSPLASIA, X-LINKED, LACTASE PERSISTENCE/NONPERSISTENCE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, SMALL CELL CANCER OF THE LUNG, SOMATIC, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, HYPERPARATHYROIDISM, NEONATAL, MYOPATHY, MYOFIBRILLAR, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PREMATURE OVARIAN FAILURE 1, EPSTEIN SYNDROME, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, FRAGILE X TREMOR/ATAXIA SYNDROME, PLASMA FIBRONECTIN DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?N SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, [PREMATURE CHROMATID SEPARATION TRAIT], PEROXISOME BIOGENESIS DISORDER 11B, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIC, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, MAY-HEGGLIN ANOMALY, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, LEUKOCYTE ADHESION DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, SACCHAROPINURIA, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, SED, MAROTEAUX TYPE, MYOPATHY, MYOFIBRILLAR, 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, BARAITSER-WINTER SYNDROME 1, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, PAGET DISEASE OF BONE 3, KARTAGENER SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, CILIARY DYSKINESIA, PRIMARY, 29, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, DIAMOND-BLACKFAN ANEMIA 1, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, BRODY MYOPATHY, SMITH-KINGSMORE SYNDROME

KCNA5, SOD1, MITF, CAV1, APPL1, APOB, TSC2, MYC, PRKACA, ACTB, FAS, PGK1, MS4A2, RPL5, AGT, SEPT9, MCM6, PPARG, LDB3, PRKAR1A, CTNNB1, ZEB2, STK11, CDKN2A, SELP, FMR1, ITGA3, TERT, NPR2, DNM2, PIK3CA, WNK1, ARHGDIA, IRS1, SMAD4, CREBBP, CYC1, COL2A1, RYR2, AQP2, PAX2, ATRX, DOK7, GH1, PLAU, EGFR, NME1, WRN, SQSTM1, NOS3, PARN, ERCC3, MAPT, BUB1B, MTOR, TNNI3, CRX, PSEN1, PGR, DDOST, JAK2, GNAI2, CCND1, MET, NR0B1, AP2S1, NKX2-1, GLUD1, AP1S1, TMEM173, SPRY2, GUCY2C, RB1, HCFC1, HTR2A, STAT3, SEC23B, INS, AASS, GATA1, CAV3, CALR, ITGB3, GJA1, SUFU, TTC19, GHR, STAT1, CCNO, CASR, DMD, MYO5B, FOXP3, HRAS, BRCA1, ITGB2, AKT1, AXIN1, VDR, MRPL3, DTNBP1, PARK2, TP53, IRS2, DCTN1, MAPK8IP1, FN1, PEX13, TTN, PTPN1, RPS19, PTEN, TRPV4, GSN, BRAF, STAT2, BTK, LIPE, KIT, TCAP, POLA1, AR, FLNA, HINT1, CHEK2, SLC12A6, NOTCH1, KNG1, PRKCSH, TGFB1, PTRF, PTPN11, SCN5A, JAK3, CFTR, MYH9, BCL10, DISC1, WAS, TBCE, TCF7L2, SOS1, UQCRC2, BLM, ATM, TINF2, STAR, ATP2A1, CRYAB, CACNA1S, ACD, BDNF, TRH, MECP2, APC, NEFH, F10, FTH1, LRP2, OCLN, MYH11, NR3C1, CAD, TSC1, GCGR, KDR, TUFM, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, REVESZ SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HYPERPARATHYROIDISM 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, BECKER MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, SHORT SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, WERNER SYNDROME, BRODY MYOPATHY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, FECHTNER SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, 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}, HERMANSKY-PUDLAK SYNDROME 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, KOWARSKI SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIC, ?PROGESTERONE RESISTANCE, AGAMMAGLOBULINEMIA, X-LINKED 1, LARON DWARFISM, ALZHEIMER DISEASE, TYPE 4, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RIPPLING MUSCLE DISEASE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MICROVILLUS INCLUSION DISEASE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PITUITARY DEPENDENT HYPERCORTISOLISM, DIAMOND-BLACKFAN ANEMIA 6, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, NEPHROTIC SYNDROME, TYPE 8, IMMUNODEFICIENCY 44, COWCHOCK SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PRIMARY PULMONARY HYPERTENSION, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SEBASTIAN SYNDROME, BURKITT LYMPHOMA, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, MEDNIK SYNDROME, POLYCYTHEMIA VERA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, BANNAYAN-RILEY-RUVALCABA SYNDROME, HYPERLYSINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, DIARRHEA 6, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NEPHROTIC SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, CARDIAC VALVULAR DYSPLASIA, X-LINKED, LACTASE PERSISTENCE/NONPERSISTENCE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, SMALL CELL CANCER OF THE LUNG, SOMATIC, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, HYPERPARATHYROIDISM, NEONATAL, MYOPATHY, MYOFIBRILLAR, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PREMATURE OVARIAN FAILURE 1, EPSTEIN SYNDROME, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, FRAGILE X TREMOR/ATAXIA SYNDROME, PLASMA FIBRONECTIN DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?N SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, [PREMATURE CHROMATID SEPARATION TRAIT], PEROXISOME BIOGENESIS DISORDER 11B, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, MAY-HEGGLIN ANOMALY, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, LEUKOCYTE ADHESION DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, SACCHAROPINURIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SED, MAROTEAUX TYPE, MYOPATHY, MYOFIBRILLAR, 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ANDROGEN INSENSITIVITY, BARAITSER-WINTER SYNDROME 1, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PAGET DISEASE OF BONE 3, KARTAGENER SYNDROME, LEUKEMIA, CHRONIC MYELOID, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, KENNY-CAFFEY SYNDROME, TYPE 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, CILIARY DYSKINESIA, PRIMARY, 29, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

KCNA5, SOD1, MITF, CAV1, APPL1, APOB, TSC2, MYC, PRKACA, ACTB, FAS, PGK1, MS4A2, RPL5, AGT, SEPT9, MCM6, PPARG, LDB3, PRKAR1A, BTK, CTNNB1, ZEB2, STK11, CDKN2A, SELP, FMR1, ITGA3, TERT, PTRF, NPR2, DNM2, PIK3CA, WNK1, ARHGDIA, IRS1, SMAD4, CREBBP, JAK3, CYC1, COL2A1, AQP2, BRAF, PAX2, ATRX, DOK7, GH1, KRAS, PLAU, EGFR, NME1, WRN, SQSTM1, TCF7L2, ATP2A1, ERCC3, MAPT, BUB1B, MTOR, TNNI3, MET, CRX, PSEN1, PGR, DDOST, JAK2, AIFM1, COPA, GFAP, GNAI2, CCND1, PTH, NR0B1, AP2S1, NKX2-1, MEN1, AP1S1, TMEM173, SPRY2, GUCY2C, RB1, HCFC1, HTR2A, GLUD1, SEC23B, INS, AASS, GATA1, CAV3, PFKM, ITGB3, GJA1, SUFU, TTC19, GHR, STAT1, SLC2A1, CASR, DMD, MYO5B, FOXP3, HRAS, BRCA1, ITGB2, AKT1, AXIN1, VDR, MAX, MRPL3, CFTR, PARK2, WAS, TP53, NPHS1, LRP2, DCTN1, MAPK8IP1, FN1, PEX13, TTN, PTPN1, RPS19, PTEN, TRPV4, PTPN22, GSN, IRS2, STAT2, RYR2, LIPE, KIT, BCR, TCAP, POLA1, AR, CCNO, HINT1, CHEK2, SLC12A6, NOTCH1, KNG1, PRKCSH, TGFB1, FLNA, PTPN11, SCN5A, TNFAIP3, DTNBP1, MYH9, BCL10, DISC1, STAT3, TBCE, NOS3, SOS1, UQCRC2, BLM, ATM, TINF2, STAR, PARN, CRYAB, CACNA1S, ACD, BDNF, TRH, MECP2, APC, NEFH, F10, FTH1, FASLG, ITGA7, CALR, OCLN, MYH11, NR3C1, CAD, TSC1, GCGR, KDR, TUFM, PIK3R1

MULLERIAN APLASIA AND HYPERANDROGENISM, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, REVESZ SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, COCKAYNE SYNDROME, TYPE A, GLUTAMINE DEFICIENCY, CONGENITAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, PANCREATIC AGENESIS 1, SHORT SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, POLYCYTHEMIA VERA, SOMATIC, SPLENIC HYPOPLASIA, GLUCOCORTICOID RESISTANCE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CAFFEY DISEASE, SPECIFIC GRANULE DEFICIENCY, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, WERNER SYNDROME, FECHTNER SYNDROME, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, DANON DISEASE, CEREBROOCULOFACIOSKELETAL SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HERMANSKY-PUDLAK SYNDROME 1, ABCD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, MEDULLARY CYSTIC KIDNEY DISEASE 1, FAMILIAL MEDITERRANEAN FEVER, AR, ?PROGESTERONE RESISTANCE, MAY-HEGGLIN ANOMALY, AGAMMAGLOBULINEMIA, X-LINKED 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ?REYNOLDS SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ALPHA-2-MACROGLOBULIN DEFICIENCY, PSEUDOPSEUDOHYPOPARATHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ACUTE MYELOID LEUKEMIA, M6 TYPE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, VAN BUCHEM DISEASE, TYPE 2, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, ATAXIA-TELANGIECTASIA, DUBIN-JOHNSON SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ALPORT SYNDROME, AUTOSOMAL DOMINANT, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, GLANZMANN THROMBASTHENIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, HYPOURICEMIA, RENAL, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, GREENBERG SKELETAL DYSPLASIA, CILIARY DYSKINESIA, PRIMARY, 33, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RUBINSTEIN-TAYBI SYNDROME, MICROVILLUS INCLUSION DISEASE, ENHANCED S-CONE SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, NEPHROTIC SYNDROME, TYPE 8, VELOCARDIOFACIAL SYNDROME, COWCHOCK SYNDROME, BARAITSER-WINTER SYNDROME 1, PRIMARY PULMONARY HYPERTENSION, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, PSEUDOHYPOALDOSTERONISM, TYPE I, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SEBASTIAN SYNDROME, BURKITT LYMPHOMA, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MULTIPLE ENDOCRINE NEOPLASIA IIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, SELECTIVE T-CELL DEFECT, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, FACTOR X DEFICIENCY, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, MYOPATHY, DISTAL, TATEYAMA TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, TIMOTHY SYNDROME, BURN-MCKEOWN SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, GLYCINE ENCEPHALOPATHY, DIGEORGE SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NEPHROTIC SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), RENAL TUBULAR ACIDOSIS WITH DEAFNESS, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, IMMUNODEFICIENCY 8, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, SMALL CELL CANCER OF THE LUNG, SOMATIC, NOONAN SYNDROME 4, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, XERODERMA PIGMENTOSUM, TYPE 1, WISKOTT-ALDRICH SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, TRICHOHEPATOENTERIC SYNDROME 2, HYPERPARATHYROIDISM, NEONATAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, POLYCYSTIC LIVER DISEASE, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPERTHYROIDISM, NONAUTOIMMUNE, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, PLASMA FIBRONECTIN DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, {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}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?N SYNDROME, ALZHEIMER DISEASE, TYPE 4, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NAIL-PATELLA SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IA, PEROXISOME BIOGENESIS DISORDER 11B, UV-SENSITIVE SYNDROME 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SESAME SYNDROME, LIDDLE SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, LEUKOCYTE ADHESION DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, FAMILIAL MEDITERRANEAN FEVER, AD, SED, MAROTEAUX TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ANDROGEN INSENSITIVITY, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, PAGET DISEASE OF BONE 3, LEUKEMIA, CHRONIC MYELOID, SOMATIC, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, LYMPHOPROLIFERATIVE SYNDROME 1, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, DYSAUTONOMIA, FAMILIAL, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PSEUDOHYPOALDOSTERONISM, TYPE IIE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, DIAMOND-BLACKFAN ANEMIA 7, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, XERODERMA PIGMENTOSUM, GROUP B, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, HYPOPARATHYROIDISM FAMILIAL ISOLATED, COENZYME Q10 DEFICIENCY, PRIMARY, 3, NEPHROTIC SYNDROME, TYPE 6, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, XERODERMA PIGMENTOSUM, GROUP D, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PEROXISOME BIOGENESIS DISORDER 2B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

PEX5, KCNA5, SLC34A1, PEX14, GAS8, CAV1, SQSTM1, NCF1, MYC, ACOX1, USP8, ACTB, LBR, CUL3, CIITA, ALG2, MS4A2, MAPT, RPL5, FAS, CYBA, AGT, SEPT9, CCT5, PRKAR1A, GNAI2, CDH1, GJA1, BTK, ERCC1, PLAU, B2M, STK11, PGR, CDKN2A, ITGA3, TERT, CASP8, IKBKAP, FBP1, COL1A1, DNM2, PIK3CA, SOS1, SGCG, ERCC2, MEFV, ARHGDIA, GPX1, SMAD4, CAPN3, NR2E3, SLC9A3, CTNNB1, PTEN, HMGCS2, ACTA1, IRS1, ATM, PAX2, ATRX, CHD7, LAMP2, KRAS, SCNN1G, EGFR, NKX2-5, DRD3, PTPN22, XPA, WRN, VWF, TCF7L2, THRA, ERCC3, MRPL44, DAG1, CAD, MYD88, SKIV2L, TNNI3, SCNN1A, HMGA1, MET, CRX, CTSA, LHX3, JAK2, AIFM1, ABCC2, CCND1, PSEN1, PTH, NR0B1, STAT1, LRP5, GNAS, AVPR2, NCF2, IL6, GLUD1, GDNF, VCP, GLI3, TNFRSF1A, MAX, SLC22A12, SPRY2, TSHR, RB1, ITK, CREBBP, STAT3, ERCC8, DTNBP1, AIRE, TBX1, MAPK8IP1, ACD, GFAP, BMPR2, GATA1, TCAP, CAV3, BANF1, CEBPE, ITGB3, BMP1, IGF1, HNF4A, SLC22A5, SCNN1B, DDB2, MYBPC3, LMX1B, HLA-DRB1, DDC, CASR, CNTN1, DMD, MYO5B, GLDC, BMP2, CD44, F10, BRCA1, MTOR, ITGB2, AKT1, MMP2, TXNL4A, AIP, MRPL3, IGF1R, PARK2, TINF2, TP53, NPHS1, LRP2, HCFC1, SLC9A3R1, LHX4, A2M, FN1, PTPRO, PEX13, PTPN1, MITF, PCBD1, AQP2, TJP2, TRPV4, AKAP10, TH, GSN, IRS2, BCL10, ING1, AXIN1, ITGA6, KIT, BCR, OCLN, POLA1, ATP6V1B1, AR, FLNA, CORO1A, ZAP70, PDSS2, IL4R, CHEK2, KNG1, HBA1, NOS3, ASCL1, CASP10, TGFB1, KCNJ10, PTPN11, LPL, GATA4, MUC1, CFTR, MYH9, GCGR, WAS, PRKACA, CACNA1C, INSR, NOTCH1, PLG, FADD, DNMT1, SCN5A, ACTN4, MECP2, COL4A3, ZHX2, RPL11, GLUL, PCSK9, INS, BDNF, RET, PEX19, PTH1R, APC, EDNRB, FASLG, WNT4, DNMT3B, CALR, PDX1, EPOR, MYH11, NR3C1, SELP, NEB, HRAS, PIK3R1, KDR, TUFM, RYR1, ATIC

CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPERFERRITINEMIA-CATARACT SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, BARTTER SYNDROME, TYPE 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, SELECTIVE T-CELL DEFECT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, SPERMATOGENIC FAILURE 5, HYPOPARATHYROIDISM FAMILIAL ISOLATED, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?PROGESTERONE RESISTANCE, ?REYNOLDS SYNDROME, ALPHA-2-MACROGLOBULIN DEFICIENCY, DEMENTIA, FAMILIAL DANISH, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IC, OCCIPITAL HORN SYNDROME, PEPCK DEFICIENCY, MITOCHONDRIAL, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, LIPOYLTRANSFERASE 1 DEFICIENCY, PLASMA FIBRONECTIN DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MICROVILLUS INCLUSION DISEASE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, FANCONI ANEMIA, COMPLEMENTATION GROUP O, RETINITIS PIGMENTOSA 10, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, ATRANSFERRINEMIA, POLYCYSTIC LIVER DISEASE, FLOATING-HARBOR SYNDROME, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CITRULLINEMIA, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 5, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, [URIC ACID CONCENTRATION, SERUM, QTL1], AMYLOIDOSIS, FINNISH TYPE, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ARTS SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, HYPER-IGD SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, LIANG DISTAL MYOPATHY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CARPAL TUNNEL SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MENTAL RETARDATION, X-LINKED 63, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, SENGERS SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, BARTTER SYNDROME, TYPE 4B, DIGENIC, HEMOCHROMATOSIS TYPE 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LEBER CONGENITAL AMAUROSIS 1, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, HYPERLYSINEMIA, LIPOPROTEIN LIPASE DEFICIENCY, IMAGE SYNDROME, AGAMMAGLOBULINEMIA 4, XERODERMA PIGMENTOSUM, VARIANT TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, MENKES DISEASE, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIC, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, SED, MAROTEAUX TYPE, GLANZMANN THROMBASTHENIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, {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}, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, DYSAUTONOMIA, FAMILIAL, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, LIVER FAILURE, TRANSIENT INFANTILE, XERODERMA PIGMENTOSUM, GROUP B, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, SACCHAROPINURIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, BARAITSER-WINTER SYNDROME 1, GLUTAMINE DEFICIENCY, CONGENITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, [HISTIDINEMIA], SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, PANCREATIC AGENESIS 1, ATELOSTEOGENESIS, TYPE I, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, NIJMEGEN BREAKAGE SYNDROME, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, NEPHROLITHIASIS, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 4, AMINOACYLASE 1 DEFICIENCY, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, NEPHROTIC SYNDROME, TYPE 11, PSEUDOPSEUDOHYPOPARATHYROIDISM, LEUKEMIA, CHRONIC MYELOID, SOMATIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHOREOACANTHOCYTOSIS, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, CUTIS LAXA, AUTOSOMAL DOMINANT 3, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DYSKERATOSIS CONGENITA, X-LINKED, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, GALACTOKINASE DEFICIENCY WITH CATARACTS, PSEUDOHYPOALDOSTERONISM, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ACETYL-COA CARBOXYLASE DEFICIENCY, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HARP SYNDROME, HYPOMAGNESEMIA 6, RENAL, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, PROLIDASE DEFICIENCY, GALACTOSEMIA, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, DUCHENNE MUSCULAR DYSTROPHY, MODY, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NEPHROTIC SYNDROME, TYPE 1, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, LEIOMYOMATOSIS AND RENAL CELL CANCER, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), LACTASE PERSISTENCE/NONPERSISTENCE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BECKER MUSCULAR DYSTROPHY, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, EPSTEIN SYNDROME, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, CILIARY DYSKINESIA, PRIMARY, 28, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), KRABBE DISEASE, ATYPICAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DUBIN-JOHNSON SYNDROME, POLYGLUCOSAN BODY DISEASE, ADULT FORM, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?N SYNDROME, BLOOM SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, ERYTHROCYTOSIS, FAMILIAL, 2, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GALLBLADDER DISEASE 1, LYMPHOPROLIFERATIVE SYNDROME 1, HYPOBETALIPOPROTEINEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, XERODERMA PIGMENTOSUM, GROUP D, CEROID LIPOFUSCINOSIS, NEURONAL, 10, BRODY MYOPATHY, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DIARRHEA 6, WILSON DISEASE, COCKAYNE SYNDROME, TYPE B, COENZYME Q10 DEFICIENCY, PRIMARY, 6, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, DENT DISEASE, ALEXANDER DISEASE, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), IMMUNODEFICIENCY 44, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OROTIC ACIDURIA, HARTSFIELD SYNDROME, MEVALONIC ACIDURIA, SITOSTEROLEMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, GLYCOGEN STORAGE DISEASE VI, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, PEROXISOME BIOGENESIS DISORDER 2B, SPLENIC HYPOPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, BARTH SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CENTRONUCLEAR MYOPATHY 5, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, CHYLOMICRON RETENTION DISEASE, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, COMBINED SAP DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PAPILLORENAL SYNDROME, ?PRECOCIOUS PUBERTY, CENTRAL, 1, POLYCYTHEMIA VERA, SOMATIC, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, BURN-MCKEOWN SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, GLYCOGEN STORAGE DISEASE IXC, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, CARDIAC VALVULAR DYSPLASIA, X-LINKED, METHYLMALONIC ACIDURIA CBLB TYPE, IMMUNODEFICIENCY 8, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SMALL CELL CANCER OF THE LUNG, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, TANGIER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, PREMATURE OVARIAN FAILURE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPOMAGNESEMIA 1, INTESTINAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, [FRUCTOSURIA], 5-OXOPROLINASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIB, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, [PREMATURE CHROMATID SEPARATION TRAIT], ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, SESAME SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, LIDDLE SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MAY-HEGGLIN ANOMALY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, BARTTER SYNDROME, TYPE 3, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, OROFACIODIGITAL SYNDROME I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, AICARDI-GOUTIERES SYNDROME 5, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, HYPOPHOSPHATEMIC RICKETS, ?46XY SEX REVERSAL 5, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LEUKOCYTE ADHESION DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, FANCONI ANEMIA, COMPLEMENTATION GROUP T, BONE MARROW FAILURE SYNDROME 2, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, GLUTATHIONE SYNTHETASE DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, HYPERPARATHYROIDISM 1, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), MEDNIK SYNDROME, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, GLUCOCORTICOID RESISTANCE, INTERSTITIAL LUNG AND LIVER DISEASE, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, 2, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), WELANDER DISTAL MYOPATHY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, RUBINSTEIN-TAYBI SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, LOWE SYNDROME, NOONAN SYNDROME 4, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ENHANCED S-CONE SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, AICARDI-GOUTIERES SYNDROME 6, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, MULTIPLE ENDOCRINE NEOPLASIA IIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, HMG-COA SYNTHASE-2 DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, UV-SENSITIVE SYNDROME 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), HEREDITARY PYROPOIKILOCYTOSIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, CAFFEY DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, FUMARASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, XERODERMA PIGMENTOSUM, TYPE 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), CALCIUM OXALATE UROLITHIASIS, PERRAULT SYNDROME 5, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, NONAKA MYOPATHY, HYPOPHOSPHATASIA, CHILDHOOD, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, DIAMOND-BLACKFAN ANEMIA 1, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, WISKOTT-ALDRICH SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, ATAXIA-OCULOMOTOR APRAXIA 4, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, MYOGLOBINURIA, RECURRENT, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, SMITH-KINGSMORE SYNDROME, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 3

CA2, TSC2, RPSA, MSH6, FGFR1, SLC34A1, LBR, CUL3, CIITA, BMPR1A, ATP6V1B1, FTL, ENPP1, POLD1, GSS, MYH14, NLRP12, B2M, GALK1, LHX3, RANBP2, RAD51C, FH, AGK, WNK1, SGCG, ABCG2, CYB5R3, CLCN7, CREBBP, LIPT1, DYNC2H1, AQP2, PHKB, FGFR3, KL, NFKB2, APOA1, CDKN3, PHKA2, SLC9A3R1, AR, CD79A, GNAS, THRA, DAG1, BUB1B, MTOR, LHX4, HMGA1, ABCB7, MRE11A, AIFM1, STT3A, IRAK3, CCND1, RPS19, JAK2, RPL5, SUCLA2, SPEG, MAT1A, HSPD1, MT-CYB, ABCD4, NDUFA1, TNNT2, HTR2A, PDE6B, GATA1, CAV3, BANF1, AGL, CTNNB1, PRPS1, NRAS, SMAD4, NLGN3, IARS2, PAPSS2, CTSD, NARS2, PNKP, AKT1, TPI1, AIP, BLNK, SETD1A, NPHS1, ABCB4, TRMU, A2M, STAP1, DNAH1, SOD1, GNE, MMAA, XPC, GLYCTK, ADK, POLA1, ERCC6L2, ASNS, PCBD1, VPS13A, OSMR, KNG1, MTPAP, LAMA2, PTPN11, LPL, GATA4, BCL10, HMGCS2, MT-CO2, SRCAP, PCCA, FMR1, COL4A3, PDHX, CLCNKB, ERCC6, CALR, POMK, EGFR, MYH9, SARS2, TF, PDX1, TERT, NR3C1, TSC1, TAP2, GCH1, PEX5, NDUFS2, PEX14, TRIM32, TREX1, APOB, MYC, AURKC, MTNR1B, GRN, MOCS2, PSEN1, DGUOK, GFAP, PDE11A, CCT5, NPC1, GNAI2, ACY1, MCCC2, FGA, MYH7, MYO1E, IKBKAP, NPR2, MMAB, TRNT1, NBN, TPK1, CDC73, DLD, IRS1, ADAR, CYC1, NR2E3, SLC9A3, RPIA, KIF1A, OCRL, MMP2, CLCNKA, DRD3, GUCY2D, HBA1, VWF, PKLR, ATP2A1, ERCC3, CBS, CORO1A, GPI, POLG, SUCLG1, GTPBP3, GK, EARS2, PTH, VPS33B, MEN1, NLRC4, FANCA, RB1, FGF23, BDNF, STAT3, FANCD2, BRAF, DMD, PIGR, NCF1, GCLC, ALPL, DNAH8, IGF1, SMAD9, MYBPC3, NEUROD1, GMPPB, TAZ, AASS, UBE2T, BMP2, F10, GBE1, TXNL4A, VDR, ASCL1, NAGLU, MUT, ETFA, IRS2, LRP2, CASP8, MAPK8IP1, BSND, HK1, BVES, FARS2, AKAP10, ATP13A2, POLH, KIT, BCR, OTC, PEX1, KRT8, PTS, PRKCSH, ITGB4, PEPD, FTH1, RRAS2, IGF1R, CARS2, APPL1, PARK2, SLC2A4, TP53, BLM, ACTN4, IL6, ITM2B, OFD1, APC, DHFR, MAPT, ALDH18A1, NLRP3, CDH1, C10orf2, SKIV2L, ATIC, DYRK1B, TNNI3, SPTA1, ATRX, FAS, SQSTM1, WNK4, PEX6, AP2S1, CAV1, NTF3, AGT, SEPT9, DNAH5, PCK2, MCM6, NADK2, STK11, LIPE, FBP1, COL1A1, FANCM, PIK3CA, GALT, ABCD1, ACSL4, SPAG1, HNRNPA1, ABCA1, NUBPL, ACTA1, ACTB, ITPR3, LIG4, SCNN1G, ABCB11, CLCN5, PGK1, NOS3, DCLRE1C, KCNJ1, TIA1, CAD, MYD88, ADCK3, SCNN1A, NTRK1, GFM1, GFPT1, PSMB8, APTX, MET, PNPLA8, DNM1L, ANLN, PFKM, TNFRSF1A, TMEM173, SPRY2, PTPN1, IFNG, NKX2-1, ATP8B1, PANK2, DKC1, INS, MOCS1, PCCB, CD44, YARS2, AMHR2, HSD17B10, SLC22A5, PAX2, LMX1B, HLA-DRB1, CNTN1, VHL, BCS1L, KIF1B, SAMHD1, BRCA1, ITGB2, FN1, CNNM2, SETX, ITPR2, FLNB, ACACA, KLF1, ATP5A1, AKT2, DCTN1, FECH, DBT, MCCC1, TTN, GUCY2C, ACADSB, PTEN, TRPV4, ABCD3, GSN, STAT2, TK2, FAH, SSR4, CHEK2, PHKG2, KCNJ10, JAK3, ATP7A, TGFB1, ERCC4, WAS, NEK1, SOS1, TRPM6, SCN5A, NDUFA10, CBX2, ZHX2, ACD, DNAH11, TARS2, ABCC8, HRAS, KHK, COQ6, OCLN, ZAP70, TINF2, TUFM, BRCA2, HLCS, OPLAH, APRT, CNBP, PIGT, DNM2, TAP1, ADCY10, STK10, RNASEH1, PPARG, OAT, PRKAR1A, KISS1R, BTK, ING1, CDKN2A, KCNN4, MARS2, HAL, ERCC2, OAS1, ARHGDIA, UMPS, ABCC2, IMPDH1, APOA2, DGKE, KRAS, ABCA12, SYN2, DNAJC5, WRN, CPOX, LMNB1, PGR, HELLS, BCKDHA, COPA, KRT18, AARS2, MRPL44, ASS1, NSUN2, STAT1, RELN, CRYAB, AP1S1, THRB, NUP107, CLPB, ABCG5, ITK, GLUD1, SEC23B, PCK1, BMPR2, PLIN1, TTR, FLNC, KCNJ11, GNA11, GJA1, LDHA, SGCA, MECP2, MVK, CHD7, CASR, GCK, MYO5B, SMARCAL1, TH, GALE, NDUFS1, MRPL3, VCP, UQCRC2, SEC63, FASLG, PHOX2B, SLC25A4, MCM4, CDKN1C, ATP7B, SIL1, ACADM, DDOST, AXIN1, PNPT1, SAR1B, NME1, FLNA, STX16, PSAP, MCM9, HSD17B4, PDHA1, PYGL, ATM, ING3, DISC1, AHCY, PRKACA, INSR, NOTCH1, CPS1, DNA2, MARS, RPL11, GLUL, FANCC, RTEL1, RET, PEX19, MTRR, POLR2F, ITGB3, RARS2, DNMT3B, ABCB6, CFTR, MYH11, MTHFD1, NHP2, CHKB, GCGR, KDR, PC, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BARAITSER-WINTER SYNDROME 1, HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, NIEMANN-PICK DISEASE TYPE C1, GLYCOGEN STORAGE DISEASE VI, ALPHA-FETOPROTEIN DEFICIENCY, CRIGLER-NAJJAR SYNDROME, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, ALZHEIMER DISEASE-2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, [BILIRUBIN, SERUM LEVEL OF, QTL1], SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NIEMANN-PICK DISEASE, TYPE C2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, HYPOBETALIPOPROTEINEMIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], {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}, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, MODY, TYPE III, CEROID LIPOFUSCINOSIS, NEURONAL, 10, PSEUDOHYPOALDOSTERONISM, TYPE IIE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], PSEUDOHYPOALDOSTERONISM, TYPE 2, AMYLOIDOSIS, FINNISH TYPE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, ?PROGESTERONE RESISTANCE, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, LIPOID ADRENAL HYPERPLASIA, [GILBERT SYNDROME], SEA-BLUE HISTIOCYTE DISEASE, PITUITARY ADENOMA, ACTH-SECRETING, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, RUBINSTEIN-TAYBI SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, APPARENT MINERALOCORTICOID EXCESS, TANGIER DISEASE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY