LABORATORY ABNORMALITIES

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PERRAULT 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}, HYPEROXALURIA, PRIMARY, TYPE II, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MALONYL-COA DECARBOXYLASE DEFICIENCY, PHYTANIC ACID STORAGE DISEASE, PEROXISOME BIOGENESIS DISORDER 3B, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, D-BIFUNCTIONAL PROTEIN DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, CALCIUM OXALATE UROLITHIASIS, RUBINSTEIN-TAYBI SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}

PEX14, GRHPR, DAO, AGPS, ACOX1, MTHFD1, HSD17B4, PEX12, AMACR, PHYH, AGXT, BAAT, GNPAT, MLYCD, PEX19, IRS2, FAR1, CREBBP, ABCD3, PEX7, HAO1, DHFR, PEX5

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, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, CEROID LIPOFUSCINOSIS NEURONAL 6, {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, HYPOPARATHYROIDISM FAMILIAL ISOLATED, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PORENCEPHALY 1, GLUCOCORTICOID DEFICIENCY 2, ?PROGESTERONE RESISTANCE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, ?REYNOLDS SYNDROME, ALPHA-2-MACROGLOBULIN DEFICIENCY, DEMENTIA, FAMILIAL DANISH, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, VAN BUCHEM DISEASE, TYPE 2, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, MEND SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, C3 DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, [BILIRUBIN, SERUM LEVEL OF, QTL1], MYOPATHY, CENTRONUCLEAR, 4, CK SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CITRULLINEMIA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, LYSYL HYDROXYLASE 3 DEFICIENCY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, {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, GLYCOGEN STORAGE DISEASE IC, HEMOCHROMATOSIS TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, [GILBERT SYNDROME], FRAGILE X SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPOPROTEIN LIPASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ASPARTYLGLUCOSAMINURIA, HMG-COA SYNTHASE-2 DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MENKES DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SED, MAROTEAUX TYPE, GLANZMANN THROMBASTHENIA, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, ?DIARRHEA 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, BARAITSER-WINTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ?NARCOLEPSY 1, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, GLUTAMINE DEFICIENCY, CONGENITAL, ALPORT SYNDROME, 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, COMBINED FACTOR V AND VIII DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, ABCD SYNDROME, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, STORMORKEN SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, 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}, SPHEROCYTOSIS, TYPE 2, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, ACETYL-COA CARBOXYLASE DEFICIENCY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ALPHA-METHYLACETOACETIC ACIDURIA, MYELOPEROXIDASE DEFICIENCY, RABSON-MENDENHALL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, NEPHRONOPHTHISIS 1, JUVENILE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CRIGLER-NAJJAR SYNDROME, TYPE I, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ALAGILLE SYNDROME, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 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}, GLYCOGEN STORAGE DISEASE VII, APPARENT MINERALOCORTICOID EXCESS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ICHTHYOSIS, X-LINKED, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, SESAME SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), DIABETES INSIPIDUS, NEPHROGENIC, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, CRIGLER-NAJJAR SYNDROME, TYPE II, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, GRAY PLATELET SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, SEA-BLUE HISTIOCYTE DISEASE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, DIAMOND-BLACKFAN ANEMIA 1, CEROID LIPOFUSCINOSIS, NEURONAL, 10, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], SJOGREN-LARSSON SYNDROME, BRODY MYOPATHY, {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, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, LATHOSTEROLOSIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPHEROCYTOSIS, TYPE 4, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, {METABOLIC SYNDROME, PROTECTION AGAINST}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), IMMUNODEFICIENCY 43, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, GREENBERG SKELETAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, DIAMOND-BLACKFAN ANEMIA 6, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, PEROXISOME BIOGENESIS DISORDER 2B, CEROID LIPOFUSCINOSIS, NEURONAL, 5, YUNIS-VARON SYNDROME, SHORT SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, CHYLOMICRON RETENTION DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FACTOR VII DEFICIENCY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {KURU, SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ABETALIPOPROTEINEMIA, COMPLEMENT FACTOR D DEFICIENCY, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, PREMATURE OVARIAN FAILURE 1, RENAL TUBULAR ACIDOSIS, DISTAL, AD, PLASMA FIBRONECTIN DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ALPHA-FETOPROTEIN DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PSEUDOHYPOALDOSTERONISM, TYPE IIE, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, EPIDERMODYSPLASIA VERRUCIFORMIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HYPERPARATHYROIDISM 1, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 6, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, HYPERCALCEMIA, INFANTILE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), MYOPATHY, TUBULAR AGGREGATE, 1, OSTEOGENESIS IMPERFECTA, TYPE VIII, AGAMMAGLOBULINEMIA, X-LINKED 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CEROID LIPOFUSCINOSIS, NEURONAL, 8, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SMITH-LEMLI-OPITZ SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEUKODYSTROPHY, HYPOMYELINATING, 4, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, DESMOSTEROLOSIS, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, HYPERFERRITINEMIA-CATARACT SYNDROME, PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, COWCHOCK SYNDROME, BRUCK SYNDROME 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HEREDITARY PYROPOIKILOCYTOSIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, CAFFEY DISEASE, NIEMANN-PICK DISEASE, TYPE A, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ALZHEIMER DISEASE-2, NIEMANN-PICK DISEASE, TYPE C2, CEREBRAL AMYLOID ANGIOPATHY, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, THYROID DYSHORMONOGENESIS 3, CALCIUM OXALATE UROLITHIASIS, CHILD SYNDROME, CRYOHYDROCYTOSIS, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?PRECOCIOUS PUBERTY, CENTRAL, 1, GLYCOGEN STORAGE DISEASE XI, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, VON WILLIBRAND DISEASE, TYPE 3, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, HYPOPHOSPHATASIA, CHILDHOOD, PAGET DISEASE OF BONE 3, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, WISKOTT-ALDRICH SYNDROME, LIPOID ADRENAL HYPERPLASIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, 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, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, APOE, CLN3, TSC2, LBR, CUL3, CIITA, BMPR1A, RPL5, FTL, ALG3, NSDHL, B2M, RANBP2, TRIM32, POMGNT1, POR, CYB5R3, CREBBP, P3H1, MAFB, AQP2, TRPV4, KL, APOA1, SLC9A3R1, GNAS, DAG1, MTOR, CST3, IFNG, AIFM1, CCND1, JAK2, HSPD1, HTR2A, CAV3, AGL, CTNNB1, SMAD4, MRAP, PSEN2, CTSD, AKT1, TAPBP, NPHS1, A2M, SOD1, PEX5, BGLAP, SPINK5, ADAR, PIGA, LRP5, GIF, CD59, SERAC1, NPHP1, PTPN11, LPL, THBS4, COMT, UQCRC2, NHLRC1, HLA-B, TMC8, FMR1, FKTN, CIDEC, FKRP, EHHADH, GATA4, BDNF, CALR, LRP2, DHCR24, NR0B1, SPTB, PIGR, EPM2A, HADHB, UGT1A1, PEX14, APOB, MYC, MT-CO2, ACTB, SEMA3E, PSEN1, SNX10, GFAP, UGT1A4, FGA, LRBA, LMAN1, MPO, ARHGDIA, MITF, TTC19, CAPN3, GNAI2, KIF1A, FIG4, MMP2, PLAU, SERPINA1, CCDC78, NOTCH1, ATP2A1, PTRF, COL4A3, PLOD3, TMC6, STAR, GTPBP3, PTH, PTH1R, MEN1, STS, FGF23, STAT3, HMGCS2, BRAF, CUBN, DMD, MC4R, NCF1, STIM1, NT5C3A, ALPL, IGF1, ALG1, CBS, MYBPC3, SC5D, KNG1, ALDH3A2, BMP2, EDNRB, HSD11B2, VDR, ASCL1, NAGLU, MUT, PEX3, EGFR, MAPK8IP1, DGAT1, ITGA6, CYBB, PTS, KCNJ10, TGFB1, ACAT1, FTH1, RRAS2, CFTR, APPL1, CACNA1C, PARK2, PLG, TP53, NDUFB9, IL6, ITM2B, PCSK9, AGA, PEX16, MAPT, NEB, SYNE2, SKIV2L, GCGR, SLC34A1, PHEX, SPTA1, B3GALNT2, F7, SQSTM1, CTSA, ANK1, AGT, CDH1, LIPE, ARSB, PNPLA2, COL1A1, NPC1, OGDH, JAG1, CDKAL1, NUBPL, PLEC, QDPR, PGM1, PGK1, NOS3, SORT1, CAD, SCNN1A, MOGS, COL1A2, ABCA1, LYZ, MET, EBP, MPC1, CD44, C3, TNFRSF1A, TMEM173, PTPN1, CASQ1, ATP8B1, WAS, INS, ABCC8, KCNA5, PFKM, ITGB3, EMD, SMPD1, TNPO3, HSD17B10, STAT1, VHL, HNF4A, TG, FN1, ACACA, ATP5A1, RTN4R, DPM2, TSHR, RPS19, PTEN, FGFR3, MTTP, RYR2, RBP4, SSR4, CHEK2, CYP2D6, DPM1, PRKCSH, ATP7A, ABCB6, AFP, POMT1, SOS1, UQCRB, SCN5A, ZHX2, CACNA1S, PLOD2, TRH, HRAS, AGPAT2, CYP17A1, TUFM, IER3IP1, CHI3L1, CAV1, HCRT, APRT, CNBP, SRD5A3, MYD88, BCAP31, TAP1, PPARG, PRKAR1A, KISS1R, BTK, CDKN2A, OAS1, WFS1, FGG, CLN8, USP8, APOA2, KRAS, GLUL, LMNB1, RYR1, LTC4S, NPHS2, PGR, COPA, ASS1, HLA-DRB1, AVPR2, SLC4A1, NDUFA2, MAX, CLN5, CYP24A1, BMPR2, PLIN1, TTR, KCNJ11, GJA1, DYSF, COL4A1, LDHA, VWF, MC2R, CASR, CLN6, KIF1B, FOXP3, TH, C19orf12, MRPL3, VCP, LDLR, SEC63, PIEZO1, SLC37A4, SIL1, ITPR3, NPC2, DDOST, SUMF1, SAR1B, FLNA, DHCR7, PRNP, ATM, AVP, CFD, INSR, PKLR, CPOX, FANCC, RET, PEX19, KCNJ2, MTRR, FASLG, ITGA7, MPDU1, CYC1, SELP, GOSR2, NBEAL2, HFE, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, NEPHRONOPHTHISIS 1, JUVENILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), COPROPORPHYRIA, HARDEROPORPHYRIA, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, PEROXISOME BIOGENESIS DISORDER 2B, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, {MELANOMA, CUTANEOUS MALIGNANT, 2}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPERFERRITINEMIA-CATARACT SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), COWCHOCK SYNDROME, SULFITE OXIDASE DEFICIENCY, 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}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, LIPOID ADRENAL HYPERPLASIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HARP SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PLASMA FIBRONECTIN DEFICIENCY, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

APOB, SUOX, UQCC2, KRAS, TP53, SOD1, IGF1, NPHP1, IGF2R, CPOX, FTL, MT-CO2, SCO1, PPOX, AKT1, STAR, GATM, AIFM1, NDUFS1, CDKN2A, COX6B1, LIPE, FN1, EGFR, CYC1, FBXL4, PANK2, STAT3, PNPT1, INS, MICU1, PEX5

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}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, FACTOR V DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SULFATASE DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, 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, COENZYME Q10 DEFICIENCY, PRIMARY, 6, COMBINED FACTOR V AND VIII DEFICIENCY, CEROID LIPOFUSCINOSIS NEURONAL 6, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, FACTOR VII DEFICIENCY, FECHTNER SYNDROME, 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}, LYSYL HYDROXYLASE 3 DEFICIENCY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, METACHROMATIC LEUKODYSTROPHY, PORENCEPHALY 1, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), ATRANSFERRINEMIA, GLYCOGEN STORAGE DISEASE XII, ALPHA-2-MACROGLOBULIN DEFICIENCY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, VON WILLEBRAND DISEASE, PLATELET-TYPE, IMMUNODEFICIENCY 43, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ICHTHYOSIS, X-LINKED, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), PYRUVATE KINASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {METABOLIC SYNDROME, PROTECTION AGAINST}, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, PRIMARY PULMONARY HYPERTENSION, HEMOPHILIA A, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, BETHLEM MYOPATHY 1, OSTEOGENESIS IMPERFECTA, TYPE XI, 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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SEBASTIAN SYNDROME, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CAFFEY DISEASE, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CREATINE PHOSPHOKINASE, ELEVATED SERUM, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ALZHEIMER DISEASE-2, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MYOSCLEROSIS, CONGENITAL, KNIEST DYSPLASIA, HEMOPHILIA B, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MARINESCO-SJOGREN SYNDROME, {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, THYROID DYSHORMONOGENESIS 3, CALCIUM OXALATE UROLITHIASIS, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, 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}, PLASMA FIBRONECTIN DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ALPORT SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, ABETALIPOPROTEINEMIA, VON WILLEBRAND DISEASE, TYPE 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MAY-HEGGLIN ANOMALY, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, OSTEOGENESIS IMPERFECTA, TYPE XVII, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, HYPOBETALIPOPROTEINEMIA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEPHROTIC SYNDROME, TYPE 12, AGAMMAGLOBULINEMIA 3, OSTEOGENESIS IMPERFECTA, TYPE VIII, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, LMAN1, CAV1, APOB, MYC, GP1BA, CIITA, COL3A1, AGT, PPARG, COL5A1, GGCX, CDH1, RYR2, FGA, B2M, COL9A3, COL4A5, COL1A1, DNM2, NOTCH1, COL6A3, WNT4, IGF1, P3H1, COL2A1, FKBP10, APOA2, MMP2, APOA1, SERPINA1, F9, CD79A, PKLR, IL6, COL6A1, MTOR, PLOD3, COL1A2, BMPR1A, PROC, CCND1, PTH, SPARC, CD44, FKBP14, STS, CASQ1, GP9, STAT3, INS, F7, CLN6, BMPR2, CAV3, CALR, ALDOA, GJA1, SUFU, HSD17B10, COL4A1, VWF, PAX2, GMPPB, TXN2, VHL, TG, COL4A4, BMP2, ITGB2, FN1, PCSK1, NAGLU, LDLR, SEC63, NUP93, TP53, A2M, AKT1, ARSB, SIL1, PTEN, ITPR3, MTTP, TH, ITGA6, F5, SUMF1, SSR4, COL6A2, COL5A2, PRKCSH, TGFB1, PTPN11, LPL, GATA4, MYH9, COL11A1, COMT, F8, INSR, NOS3, PLG, RNASET2, DNMT1, ACTN4, COL4A3, BDNF, TF, F10, COQ6, MYH11, GCGR, KDR, ARSA, TCF7L2

LYSYL HYDROXYLASE 3 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, 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}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, COACH SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?ACAT2 DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 6, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, MENTAL RETARDATION, X-LINKED 63, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIARRHEA 6, SHORT SYNDROME, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, DIABETES INSIPIDUS, NEPHROGENIC, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, SELECTIVE T-CELL DEFECT, 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, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA IIB, COENZYME Q10 DEFICIENCY, PRIMARY, 6, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, COMPLEMENT FACTOR D DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, CEROID LIPOFUSCINOSIS NEURONAL 6, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, GALLBLADDER DISEASE 1, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, {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}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 7, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HYPOPHOSPHATASIA, INFANTILE, HEMOCHROMATOSIS, TYPE 2B, GLUCOCORTICOID DEFICIENCY 2, NEPHRONOPHTHISIS 1, JUVENILE, ?PROGESTERONE RESISTANCE, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, STORMORKEN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, ?REYNOLDS SYNDROME, ALZHEIMER DISEASE, TYPE 4, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MANDIBULOACRAL DYSPLASIA, ALPHA-2-MACROGLOBULIN DEFICIENCY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, CALCIUM OXALATE UROLITHIASIS, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, CEROID LIPOFUSCINOSIS, NEURONAL, 8, SMITH-LEMLI-OPITZ SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, GLANZMANN THROMBASTHENIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MEND SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DESMOSTEROLOSIS, CRIGLER-NAJJAR SYNDROME, TYPE I, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MUSCULAR DYSTROPHY, CONGENITAL, METHEMOGLOBINEMIA, TYPE IV, IMMUNODEFICIENCY 43, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, MIYOSHI MUSCULAR DYSTROPHY 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, CK SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, NEPHROTIC SYNDROME, TYPE 8, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, COWCHOCK SYNDROME, BRUCK SYNDROME 2, DIAMOND-BLACKFAN ANEMIA 9, PRIMARY PULMONARY HYPERTENSION, GLYCOGEN STORAGE DISEASE IC, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CHYLOMICRON RETENTION DISEASE, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, BURKITT LYMPHOMA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, ALPHA-METHYLACETOACETIC ACIDURIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MULTIPLE ENDOCRINE NEOPLASIA IIA, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, OSTEOGENESIS IMPERFECTA, TYPE XI, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, MALOUF SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, [GILBERT SYNDROME], HEREDITARY FACTOR VIII DEFICIENCY DISEASE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CREATINE PHOSPHOKINASE, ELEVATED SERUM, RETINITIS PIGMENTOSA 1, GALACTOSE EPIMERASE DEFICIENCY, CRIGLER-NAJJAR SYNDROME, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, ALZHEIMER DISEASE-2, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, GLYCOGEN STORAGE DISEASE IA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NEPHROTIC SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, COMBINED FACTOR V AND VIII DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, SMALL CELL CANCER OF THE LUNG, SOMATIC, PEROXISOME BIOGENESIS DISORDER 8B, HEMOCHROMATOSIS, TYPE 4, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, HYPERPARATHYROIDISM, NEONATAL, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HEMOPHILIA A, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, LATHOSTEROLOSIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, PREMATURE OVARIAN FAILURE 1, HEMOCHROMATOSIS TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ?N-ACETYLASPARTATE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, HYPERTHYROIDISM, NONAUTOIMMUNE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, FRAGILE X TREMOR/ATAXIA SYNDROME, PLASMA FIBRONECTIN DEFICIENCY, TRIMETHYLAMINURIA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, CARDIOMYOPATHY, DILATED, 1A, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, LIPOPROTEIN LIPASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, VON WILLEBRAND DISEASE, TYPE 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, [URIC ACID CONCENTRATION, SERUM, QTL4], {GOUT SUSCEPTIBILITY 4}, CPT DEFICIENCY, HEPATIC, TYPE IA, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, VON WILLIBRAND DISEASE, TYPE 3, LIPASE DEFICIENCY, COMBINED, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, CHILD SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, NEPHROTIC SYNDROME, TYPE 11, HYPOPHOSPHATASIA, CHILDHOOD, AGAMMAGLOBULINEMIA 1, DIAMOND-BLACKFAN ANEMIA 1, BARAITSER-WINTER SYNDROME 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, THYROID DYSHORMONOGENESIS 5, HYPOBETALIPOPROTEINEMIA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT, 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, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, ANDROGEN INSENSITIVITY, EPIDERMODYSPLASIA VERRUCIFORMIS, LIPOID ADRENAL HYPERPLASIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, ?DIARRHEA 7, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, BRODY MYOPATHY, [BILIRUBIN, SERUM LEVEL OF, QTL1], 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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], SJOGREN-LARSSON SYNDROME, BOUCHER-NEUHAUSER SYNDROME, ICHTHYOSIS, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

DHCR24, SOD1, CAV1, HBB, EPHX1, APOB, TSC2, MYC, PIGW, F8, FKBP10, LBR, PGK1, SC5D, MYD88, G6PC, CTSA, RPL5, ALDOA, AGT, BCAP31, PPARG, MOGS, AHSG, TREX1, ALG3, PRKAR1A, GGCX, NSDHL, MC2R, CTNNB1, RYR2, CYB5A, CFD, B2M, GALE, STK11, CDKN2A, FMR1, MRAP, SLC37A4, PNPLA2, APRT, LMAN1, ALG2, UGT1A4, PTPN1, ACSL4, POR, COQ6, ARHGDIA, CYB5R3, SMAD4, WFS1, BTK, CPT1A, RP1, GNAI2, CD81, NR3C2, IRS1, CYP2R1, NUP107, DOLK, ACTB, PIGO, KRAS, COPA, PLAU, SLC17A3, QDPR, SPINK5, NME1, POMK, ANO5, PIGT, NOS3, AGPAT2, ATP2A1, VMA21, LMNB1, SORT1, LPIN1, RYR1, LTC4S, TMC6, RPS10, CRX, LMNA, ALG11, PSEN1, PGR, DDOST, IFNG, AIFM1, BMPR1A, STT3A, PLOD3, CLN8, CCND1, PTH, NR0B1, LMF1, TAP1, PNPLA8, HSD17B3, RELN, CD44, CNTN5, KDR, VCP, FKBP14, TMEM173, SRD5A3, PIGY, ALPL, ABCD4, ARSB, TSHR, STS, ALG6, UGT1A1, CYP21A2, AVPR2, CYP2D6, PNPLA6, TUFM, DPAGT1, ARNT2, SEC23B, INS, MPDU1, PGAP2, CTSD, MC4R, SRD5A2, HCFC1, CAV3, STIM1, PIGV, ITGB3, AGL, ACAT1, GJA1, TNPO3, RB1, IGF1, ALG1, HNF4A, LDHA, VWF, CBS, CTNS, GOSR2, HLA-DRB1, PSEN2, CASR, CNTN1, NAT8L, CLN6, PLOD1, OCA2, BCS1L, DPM1, ALDH3A2, FOXP3, TNFRSF1A, EGFR, MTOR, AKT1, FN1, ITPR2, VDR, FMO3, MRPL3, IGF1R, WAS, TP53, SEC63, LRP2, ATP5A1, TINF2, ABCB4, DCTN1, CYP2C9, POMT1, POMT2, MAPK8IP1, APOE, A2M, CDH1, TMEM67, DPM2, APOL2, GUCY2C, RPS19, ATIC, PTEN, ITPR3, HAMP, PROS1, CFTR, TAPBP, HRAS, SUMF1, SERPINF2, VKORC1, SSR4, AR, FLNA, SLC40A1, PIGN, ING1, CDKAL1, PIGA, DHCR7, CASQ1, NPHP1, TXN2, TGFB1, PIGM, PTPN11, LPL, GATA4, DTNBP1, BCL10, IER3IP1, STAT1, APPL1, STAT3, MT-CO2, CACNA1C, SLC33A1, INSR, EBP, HLA-B, NOTCH1, PLG, TMC8, RANBP2, CYP2A6, DNMT1, HSD3B7, IL6, NPHS1, STAR, RPL11, MFSD2A, ZMPSTE24, ACD, PLOD2, TRH, PIEZO1, DUOXA2, RET, PEX19, IGHM, HFE, F10, ETFA, PEX16, FASLG, ACAT2, DGAT1, CALR, SAR1B, ZAP70, CYP7B1, NR3C1, SELP, C19orf12, BMPR2, TAP2, CYP17A1, SYNE2, ALG13, SKIV2L, PIK3R1

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}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, POLYCYTHEMIA VERA, SOMATIC, CAFFEY DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, CREATINE PHOSPHOKINASE, ELEVATED SERUM, RIPPLING MUSCLE DISEASE, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MAY-HEGGLIN ANOMALY, MYASTHENIC SYNDROME, CONGENITAL, 10, 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}, DUCHENNE MUSCULAR DYSTROPHY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), PRIMARY PULMONARY HYPERTENSION, FECHTNER SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, EPSTEIN SYNDROME, ALZHEIMER DISEASE, TYPE 4, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MYOPATHY, DISTAL, TATEYAMA TYPE, PLASMA FIBRONECTIN DEFICIENCY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, ALPORT SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, SEBASTIAN SYNDROME

KCNA5, CAV3, C3AR1, DOK7, CTNNB1, COL1A1, PRPH, TGFB1, NOS3, SCN5A, PSEN2, FLNA, MYH9, AGT, DMD, DISC1, PRKACA, PRKAR1A, PSEN1, AKT1, GJA1, RYR2, JAK2, COL4A5, BDNF, MAPK8IP1, FN1, EGFR, ITGA7, DAG1

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}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, HYPER-IGE RECURRENT INFECTION SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND-BLACKFAN ANEMIA 13, SHORT SYNDROME, DIAMOND-BLACKFAN ANEMIA 4, ATELOSTEOGENESIS, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, GLUCOCORTICOID RESISTANCE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, SPECIFIC GRANULE 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}, MIYOSHI MUSCULAR DYSTROPHY 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, IMMUNODEFICIENCY 43, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, ATRIOVENTRICULAR SEPTAL DEFECT 3, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RIPPLING MUSCLE DISEASE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MUSCULAR DYSTROPHY, CONGENITAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 8, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MUCKLE-WELLS SYNDROME, DIAMOND-BLACKFAN ANEMIA 9, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA IIA, NEPHROTIC SYNDROME, TYPE 8, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, AMYLOIDOSIS, FINNISH TYPE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, MYOPATHY, MYOFIBRILLAR, 5, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 6, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, CAFFEY DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ALZHEIMER DISEASE-2, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LIANG DISTAL MYOPATHY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYOTONIC DYSTROPHY 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, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, HEMOCHROMATOSIS TYPE 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PLASMA FIBRONECTIN DEFICIENCY, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, 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, LEUKOCYTE ADHESION DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SED, MAROTEAUX TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ANDROGEN INSENSITIVITY, GLANZMANN THROMBASTHENIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, LEUKEMIA, CHRONIC MYELOID, SOMATIC, HYPOBETALIPOPROTEINEMIA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, WISKOTT-ALDRICH SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, SEA-BLUE HISTIOCYTE DISEASE, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, DIAMOND-BLACKFAN ANEMIA 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

APOE, C3AR1, DNM2, CAV1, SPTA1, LMNA, MYC, CNBP, ACTB, PIGT, IGF2R, CAPN5, AGT, PPARG, LDB3, CEBPE, ITGA2B, APOB, FGA, MYH7, ITGA3, PNPLA2, COL1A1, LIG4, NOTCH1, RPS19, ARHGDIA, SMAD4, CD81, KIF1A, RPS7, ACTA1, LIMS2, TRPV4, PLEC, PLAU, EGFR, AR, NOS3, DAG1, FGFR1, HMGA1, SCARB2, RPS29, JAK2, KRT18, CCND1, PTH, IFNG, RPL5, RPS17, CD44, RPS10, PTPN1, STAT3, BRAF, INS, CAV3, TTR, RET, ITGB3, GJA1, DYSF, CTNNB1, IGF1, STAT1, DMD, VHL, KIF1B, BMP2, ITGB2, AKT1, KRAS, FHL1, ASCL1, TP53, IRS2, ATP5A1, CASP8, MAPK8IP1, FN1, OGDH, PTEN, FGFR3, GSN, THBD, ITGA6, KIT, BCR, FLNA, STX16, B2M, CD46, CD59, KNG1, KCNJ10, TGFB1, MMP2, PTPN11, RRAS2, ITGB4, WAS, PRKACA, HLA-B, AHNAK, PLG, SOS1, DNMT1, ACTN4, IL6, SGCG, FLNC, SYNE2, HRAS, LRP2, ITGA7, CALR, SELP, MYH11, NR3C1, NLRP3, CDH1, ATIC, KDR, FLNB, PIK3R1

ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 8B, PEROXISOME BIOGENESIS DISORDER 5B, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 6B, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 7B, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 14B, PEROXISOME BIOGENESIS DISORDER 3B, PEROXISOME BIOGENESIS DISORDER 11B

PEX12, PEX16, PEX13, PEX11B, PEX3, PEX10, PEX2, PEX19, PEX26, ABCD1

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}, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), CAFFEY DISEASE, BURKITT LYMPHOMA, NIEMANN-PICK DISEASE, TYPE A, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, CEROID LIPOFUSCINOSIS, NEURONAL, 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS VII, GM2-GANGLIOSIDOSIS, AB VARIANT, MUCOPOLYSACCHARIDOSIS IH/S, TRANSCOBALAMIN II DEFICIENCY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), CEROID LIPOFUSCINOSIS NEURONAL 6, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, GM1-GANGLIOSIDOSIS, TYPE III, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ?MUCOPOLYSACCHARIDOSIS TYPE IX, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IS, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, CEROID LIPOFUSCINOSIS, NEURONAL, 10, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, KRABBE DISEASE, ATYPICAL, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, METACHROMATIC LEUKODYSTROPHY, TANGIER DISEASE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE, CALCIUM OXALATE UROLITHIASIS, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, FARBER LIPOGRANULOMATOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ICHTHYOSIS, X-LINKED, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IVA, TUBEROUS SCLEROSIS 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, KRABBE DISEASE, GALACTOSIALIDOSIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLASMA FIBRONECTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, GAUCHER DISEASE, TYPE II, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, GAUCHER DISEASE, TYPE IIIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, COMBINED SAP DEFICIENCY, GAUCHER DISEASE, TYPE I, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, INTRINSIC FACTOR DEFICIENCY

ACTA1, FASLG, SGSH, TPP1, GIF, SMPD1, APOA1, COL1A1, IGF1, ACP2, GNS, HEXB, STAT1, DRD3, GUSB, IDS, TGFB1, ASAH1, HEXA, BMP2, NOS3, GALC, FN1, RNASET2, IDUA, MRPL3, NAGLU, GLB1, GBA, IL6, IFNG, GLA, HLA-DRB1, LRP2, MYC, CD44, CNTN5, TCN2, GALNS, CTSF, NOTCH1, EGFR, ARSA, STS, CTSA, PSAP, NEU1, ARSB, GM2A, SCARB2, INS, CUBN, HYAL1, CTSD

GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, {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, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, TRYPSINOGEN DEFICIENCY, THYROID DYSHORMONOGENESIS 3, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, 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, ALZHEIMER DISEASE-2, LEUKOCYTE ADHESION DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ANGIOEDEMA, HEREDITARY, TYPES I AND II, BANNAYAN-RILEY-RUVALCABA SYNDROME, COMPLEMENT FACTOR D DEFICIENCY, GLANZMANN THROMBASTHENIA, OSTEOGENESIS IMPERFECTA, TYPE XVII, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ATRANSFERRINEMIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, FACTOR XIIIA DEFICIENCY, HEMOPHILIA A, HYPOBETALIPOPROTEINEMIA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, VON WILLIBRAND DISEASE, TYPE 3, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MYOPATHY, MYOFIBRILLAR, 2, MARINESCO-SJOGREN SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MYOPATHY, DISTAL, 4, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SEA-BLUE HISTIOCYTE DISEASE, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, GLYCOGEN STORAGE DISEASE XII, ALPHA-2-MACROGLOBULIN DEFICIENCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, RABSON-MENDENHALL SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PLASMA FIBRONECTIN DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 5, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {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}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

ACTA1, FGA, APOE, CALR, ITGB3, HBB, APOB, APOA1, PRSS1, MYC, SERPINA1, PTEN, F5, FLNC, HBA1, TGFB1, FGB, NOS3, STAT1, ALDOA, KNG1, AGT, TBX19, HRG, TG, F8, INSR, DBH, PLG, ITGB2, ITGA2B, FN1, CTNNB1, PCSK1, CFD, ACTN4, IL6, LDLR, CRYAB, SPARC, TF, A2M, AKT1, FASLG, SIL1, FGG, SERPINF2, F13A1, IGF1, ADA, PROS1, INS, SERPING1, VWF

MULLERIAN APLASIA AND HYPERANDROGENISM, VERHEIJ SYNDROME, ?MENTAL RETARDATION, X-LINKED 91, 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, MANNOSIDOSIS, ALPHA-, TYPES I AND II, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, {THIOPURINES, POOR METABOLISM OF, 1}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, DIAMOND-BLACKFAN ANEMIA 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, SELECTIVE T-CELL DEFECT, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, FACTOR V DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, CEROID LIPOFUSCINOSIS NEURONAL 6, ACRODERMATITIS ENTEROPATHICA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, FANCONI RENOTUBULAR SYNDROME 2, HEMOCHROMATOSIS, TYPE 2B, DANON DISEASE, MIYOSHI MUSCULAR DYSTROPHY 1, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, KOWARSKI SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, CEROID LIPOFUSCINOSIS, NEURONAL, 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?PROGESTERONE RESISTANCE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), ALPHA-2-MACROGLOBULIN DEFICIENCY, MANDIBULOACRAL DYSPLASIA, DEMENTIA, FAMILIAL DANISH, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY, ATAXIA-TELANGIECTASIA-LIKE DISORDER, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, [FRUCTOSURIA], HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, VAN BUCHEM DISEASE, TYPE 2, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, XERODERMA PIGMENTOSUM, GROUP B, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, FISH-EYE DISEASE, C3 DEFICIENCY, HYPOURICEMIA, RENAL, SPHEROCYTOSIS, TYPE 4, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, MICROVILLUS INCLUSION DISEASE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ALKAPTONURIA, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, CK SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, IMMUNODEFICIENCY 44, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, CYANOSIS, TRANSIENT NEONATAL, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, FLOATING-HARBOR SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, [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), HYPERBILIVERDINEMIA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CITRULLINEMIA, HARTNUP DISORDER, EPILEPSY, PYRIDOXINE-DEPENDENT, MYOPATHY, MYOFIBRILLAR, 5, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, 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, LYSYL HYDROXYLASE 3 DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, [URIC ACID CONCENTRATION, SERUM, QTL1], TIMOTHY SYNDROME, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ALPHA-METHYLACETOACETIC ACIDURIA, CYSTATHIONINURIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, HYPER-IGD SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, LIANG DISTAL MYOPATHY, DUCHENNE MUSCULAR DYSTROPHY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MUCOPOLYSACCHARIDOSIS VII, HEMOCHROMATOSIS, TYPE 4, AGAMMAGLOBULINEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MODY, TYPE III, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {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, IMMUNODEFICIENCY, COMMON VARIABLE, 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, DICARBOXYLIC AMINOACIDURIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TUBEROUS SCLEROSIS-1, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 16, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, SPECIFIC GRANULE DEFICIENCY, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, C1R/C1S DEFICIENCY, COMBINED, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, SCOTT SYNDROME, NAIL-PATELLA SYNDROME, HYPERLYSINEMIA, LIPOPROTEIN LIPASE DEFICIENCY, IMAGE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, ASPARTYLGLUCOSAMINURIA, HMG-COA SYNTHASE-2 DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, NORUM DISEASE, MENKES DISEASE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, PLASMA TRIGLYCERIDE LEVEL QTL, LOW, KANZAKI DISEASE, SACCHAROPINURIA, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, SED, MAROTEAUX TYPE, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, GLANZMANN THROMBASTHENIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, THRYOID DYSHORMONOGENESIS 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, LEUKEMIA, CHRONIC MYELOID, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE XVII, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE, HPRT-RELATED GOUT, ALEXANDER DISEASE, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, ABCD SYNDROME, 2-METHYLBUTYRYLGLYCINURIA, HYPOMYELINATION, GLOBAL CEREBRAL, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, CONE-ROD DYSTROPHY, X-LINKED, 1, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, MAY-HEGGLIN ANOMALY, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, MUCOPOLYSACCHARIDOSIS IVA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ?NARCOLEPSY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 13, PANCREATIC AGENESIS 1, ATELOSTEOGENESIS, TYPE I, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, 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, VAN BUCHEM DISEASE, COMBINED FACTOR V AND VIII DEFICIENCY, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BARTTER SYNDROME, TYPE 1, LACTASE DEFICIENCY, CONGENITAL, AMINOACYLASE 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS IS, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SPHEROCYTOSIS, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, OROFACIODIGITAL SYNDROME I, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, ALBINISM, OCULOCUTANEOUS, TYPE III, ARGININOSUCCINIC ACIDURIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, EHLERS-DANLOS SYNDROME, TYPE VI, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, TYROSINEMIA, TYPE III, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, CHOREOACANTHOCYTOSIS, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, 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, BILE ACID MALABSORPTION, PRIMARY, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, CONGENITAL, DIAMOND-BLACKFAN ANEMIA 8, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, ALZHEIMER DISEASE-2, DYSKERATOSIS CONGENITA, X-LINKED, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, HEMOPHILIA A, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, GALACTOKINASE DEFICIENCY WITH CATARACTS, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, PSEUDOHYPOALDOSTERONISM, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, GAUCHER DISEASE, TYPE IIIC, ACETYL-COA CARBOXYLASE DEFICIENCY, SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, ACHONDROGENESIS IB, MUCOPOLYSACCHARIDOSIS IH, MYELOPEROXIDASE DEFICIENCY, MALOUF SYNDROME, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, RABSON-MENDENHALL SYNDROME, JOHANSON-BLIZZARD SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, GAUCHER DISEASE, TYPE I, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, DIHYDROPYRIMIDINURIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SHWACHMAN-DIAMOND SYNDROME, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, MEDNIK SYNDROME, COACH SYNDROME, HYPEROXALURIA, PRIMARY, TYPE II, PROLIDASE DEFICIENCY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, TRICHOHEPATOENTERIC SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, MODY, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, FRUCTOSE INTOLERANCE, {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, PARAGANGLIOMAS 4, LACTASE PERSISTENCE/NONPERSISTENCE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?DIAMOND-BLACKFAN ANEMIA 12, RENAL TUBULAR ACIDOSIS, DISTAL, AR, OCULAR ALBINISM, TYPE I, NETTLESHIP-FALLS TYPE, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, BECKER MUSCULAR DYSTROPHY, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, 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, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, AMYLOIDOSIS, FINNISH TYPE, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, KRABBE DISEASE, ATYPICAL, BIOTINIDASE DEFICIENCY, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, TRYPSINOGEN DEFICIENCY, ICHTHYOSIS, X-LINKED, DUBIN-JOHNSON SYNDROME, C4A DEFICIENCY, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?N SYNDROME, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, ?MUCOPOLYSACCHARIDOSIS TYPE IX, GELEOPHYSIC DYSPLASIA 2, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), SEGAWA SYNDROME, RECESSIVE, GITELMAN SYNDROME, LESCH-NYHAN SYNDROME, CYSTINURIA, DIABETES INSIPIDUS, NEPHROGENIC, VON WILLEBRAND DISEASE, PLATELET-TYPE, LYMPHOPROLIFERATIVE SYNDROME 1, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, TYROSINEMIA, TYPE II, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, GABA-TRANSAMINASE DEFICIENCY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GAUCHER DISEASE, TYPE III, SEA-BLUE HISTIOCYTE DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], SJOGREN-LARSSON SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, BRODY MYOPATHY, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, 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}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ?ACAT2 DEFICIENCY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, LATHOSTEROLOSIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 5, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, DIARRHEA 6, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), GALACTOSE EPIMERASE DEFICIENCY, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 6, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, CHILD SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 6, CEROID LIPOFUSCINOSIS, NEURONAL, 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, TRANSCOBALAMIN II DEFICIENCY, TYROSINEMIA, TYPE I, 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, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, {HASHIMOTO THYROIDITIS}, BETA-UREIDOPROPIONASE DEFICIENCY, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), NEPHRONOPHTHISIS 1, JUVENILE, PEROXISOME BIOGENESIS DISORDER 14B, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, 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, FUCOSIDOSIS, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLUTAMINE DEFICIENCY, CONGENITAL, 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, WHITE SPONGE NEVUS 1, MEVALONIC ACIDURIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), GLYCOGEN STORAGE DISEASE VI, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, SPLENIC HYPOPLASIA, POLYCYTHEMIA VERA, SOMATIC, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MIYOSHI MUSCULAR DYSTROPHY 3, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSONISM-DYSTONIA, INFANTILE, {METABOLIC SYNDROME, PROTECTION AGAINST}, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, PEROXISOME BIOGENESIS DISORDER 2B, CEROID LIPOFUSCINOSIS, NEURONAL, 5, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPOPHOSPHATEMIC RICKETS, AR, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, HYPERLIPOPROTEINEMIA, TYPE IB, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, CHYLOMICRON RETENTION DISEASE, DYSAUTONOMIA, FAMILIAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FACTOR VII DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {KURU, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, C8 DEFICIENCY, TYPE I, PENDRED'S SYNDROME, ?PRECOCIOUS PUBERTY, CENTRAL, 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, BURKITT LYMPHOMA, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, BURN-MCKEOWN SYNDROME, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, GLYCOGEN STORAGE DISEASE XI, COMPLEMENT FACTOR D DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, MYOPATHY, MYOFIBRILLAR, 6, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS TYPE IIID, SMALL CELL CANCER OF THE LUNG, SOMATIC, HEMOPHILIA B, IMMUNODEFICIENCY, COMMON VARIABLE, 7, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, PREMATURE OVARIAN FAILURE 1, COMPLEMENT FACTOR H DEFICIENCY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, ALAGILLE SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AD, PLASMA FIBRONECTIN 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}, COMBINED SAP DEFICIENCY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, IMINOGLYCINURIA, DIGENIC, AMYOTROPHIC LATERAL SCLEROSIS 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CANAVAN DISEASE, [PREMATURE CHROMATID SEPARATION TRAIT], ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SESAME SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, [BLOOD GROUP, LUTHERAN NULL], AGAMMAGLOBULINEMIA 4, LIDDLE SYNDROME, PHYTANIC ACID STORAGE DISEASE, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ALPHA-FETOPROTEIN 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, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, HYPERPROLINEMIA, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, MASP2 DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ACROMICRIC DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ?SNEDDON SYNDROME, ?46XY SEX REVERSAL 5, PSEUDOHYPOALDOSTERONISM, TYPE IIE, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, FARBER LIPOGRANULOMATOSIS, EPIDERMODYSPLASIA VERRUCIFORMIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, 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, PAPILLORENAL SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HYPERPARATHYROIDISM 1, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 6, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, HEPATIC LIPASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, INTERSTITIAL LUNG AND LIVER DISEASE, MUCOLIPIDOSIS III GAMMA, ALBINISM, OCULOCUTANEOUS, TYPE IA, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, GALLBLADDER DISEASE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, 2, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HERMANSKY-PUDLAK SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE VIII, [EOSINOPHIL PEROXIDASE DEFICIENCY], {CELIAC DISEASE, SUSCEPTIBILITY TO}, COENZYME Q10 DEFICIENCY, PRIMARY, 5, 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, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, THYROID HORMONE RESISTANCE, PSEUDOHYPOPARATHYROIDISM IA, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, [PENTOSURIA], ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, LOWE SYNDROME, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, NOONAN SYNDROME 4, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, NEPHROTIC SYNDROME, TYPE 11, LEBER OPTIC ATROPHY AND DYSTONIA, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, [GLYOXALASE II DEFICIENCY], DESMOSTEROLOSIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, METHEMOGLOBINEMIA, TYPE IV, RUBINSTEIN-TAYBI SYNDROME, ?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, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, AICARDI-GOUTIERES SYNDROME 6, COWCHOCK SYNDROME, BRUCK SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, MULTIPLE ENDOCRINE NEOPLASIA IIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, GM2-GANGLIOSIDOSIS, AB VARIANT, GLUCOSE/GALACTOSE MALABSORPTION, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CITRULLINEMIA, ADULT-ONSET TYPE II, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), DIAMOND-BLACKFAN ANEMIA 9, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, LYMPHOPROLIFERATIVE SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, THYROID DYSHORMONOGENESIS 1, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), HEREDITARY PYROPOIKILOCYTOSIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, CAFFEY DISEASE, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLYCINE ENCEPHALOPATHY, GLYCOGEN STORAGE DISEASE II, NIEMANN-PICK DISEASE, TYPE C2, GAPO SYNDROME, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, CEREBRAL AMYLOID ANGIOPATHY, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, LIPOID ADRENAL HYPERPLASIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ?MYOSCLEROSIS, CONGENITAL, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, FACTOR XIIIA DEFICIENCY, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, XERODERMA PIGMENTOSUM, TYPE 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, OSTEOGENESIS IMPERFECTA, TYPE XIII, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), THYROID DYSHORMONOGENESIS 3, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, PERRAULT SYNDROME 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, METACHROMATIC LEUKODYSTROPHY, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, HYPERTHYROIDISM, NONAUTOIMMUNE, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, WRINKLY SKIN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, ABETALIPOPROTEINEMIA, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, GLYCOGEN STORAGE DISEASE X, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), MUCKLE-WELLS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, LEUKOCYTE ADHESION DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, NONAKA MYOPATHY, PEELING SKIN SYNDROME 1, HYPOPHOSPHATASIA, CHILDHOOD, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), XERODERMA PIGMENTOSUM, GROUP D, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, PAGET DISEASE OF BONE 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, NEPHROTIC SYNDROME, TYPE 12, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, WISKOTT-ALDRICH SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CRYOHYDROCYTOSIS, DIAMOND-BLACKFAN ANEMIA 7, HAWKINSINURIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MUCOPOLYSACCHARIDOSIS IH/S, 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, MYOGLOBINURIA, RECURRENT, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEPHROTIC SYNDROME, TYPE 6, ?GLYCOGEN STORAGE DISEASE XIII, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, 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, HYPOMAGNESEMIA 2, RENAL, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, SPHEROCYTOSIS, TYPE 2, SMITH-KINGSMORE SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3

CA2, UROD, RPL5, DNA2, HBB, FGFR1, PROS1, LMNA, BCKDHB, EPCAM, EPX, GP1BA, CUL3, IGF2R, GLI3, COL3A1, CR2, ATP6V1B1, FTL, GUSB, HAGH, POLD1, GSS, VMA21, GGCX, NSDHL, SPTA1, RPL15, B2M, GALK1, LHX3, SPINK1, RANBP2, ITGA3, FH, TRIM32, TTN, WNK1, MS4A1, ABCG2, GPX1, CREBBP, HGD, ALDH6A1, MAFB, ETFDH, AQP2, PHKB, SCN4A, LAMP2, KL, NFKB2, APOA1, HAMP, F9, ENO3, NDUFA1, CD79A, GNAS, ALDH7A1, POLG2, THRA, THPO, CBS, BUB1B, CIITA, ABAT, ASAH1, THBD, CST3, HMGA1, PTH, BTD, CTSA, CTSF, CD27, MRE11A, AIFM1, STT3A, CCND1, SLC30A8, JAK2, ANK1, SPARC, NKX2-1, HNF4A, SLC6A19, SGSH, CNTN5, GALNT3, HSPD1, MT-CYB, RPS10, NTF3, RYR1, TNNT2, GPD1, SUCLG1, RELN, HTR2A, FXYD2, CYB5R3, NDUFA10, GAMT, NDUFS7, SEPT9, SLC12A1, GATA1, CAV3, BANF1, ALDOA, AGL, CTNNB1, SERPINC1, SUFU, SMAD4, NLGN3, GNMT, SCNN1B, SLC4A1, C1R, IGHM, PSEN2, LRP5, ICOS, CTSD, SLC6A3, GLDC, NDUFA2, AKT1, TPI1, BLNK, SETD1A, HINT1, TANGO2, NPHS1, ABCB4, ACAT2, A2M, PCK2, PTPRO, B4GAT1, PEX13, SI, SOST, GNE, DMP1, ECHS1, XPC, SGCG, COL6A3, TTC19, POLA1, DAG1, TAT, GRHPR, SLC2A1, GIF, PCBD1, SPINK5, VPS13A, PYGL, CD59, KNG1, MTPAP, NPHP1, LAMA2, SRCAP, LPL, NDUFA9, GMPPA, HPD, COMT, BCAM, MT-CO2, SOD1, PTPN11, COL6A1, TMC8, LIPE, SEC23B, COL4A3, STAR, GATA4, ZMPSTE24, BDNF, CALR, CTNS, AKR1D1, LIPA, MYH9, SARS2, TF, ACP2, FBP1, KRT1, SPTB, HRAS, PAX8, GM2A, GH1, PCK1, PEX5, NDUFS2, GPI, PEX14, DNM2, CYBA, TREX1, ARHGDIA, APOB, COQ9, MYC, ACTB, GRN, MOCS2, RPS7, PSEN1, DGUOK, TCF7L2, PPT1, GFAP, TNXB, CCT5, PNPO, HLA-B, ITGA2B, BMP1, IDUA, FGA, MYH7, NDUFS4, DNASE1, SLC25A1, AR, IKBKAP, NPR2, DYSF, LMAN1, RPS19, MT-CO3, NBN, SOS1, GALNS, PTPN1, PRF1, CDC73, DLD, MITF, FOXN1, ADAR, CAPN3, MTNR1B, NR2E3, GATM, CLCN7, IL2RG, CD81, KIF1A, SERPING1, ANGPTL4, RRM2B, DDC, MMP2, ALDOB, SLC26A4, SERPINA1, DRD3, CYP7B1, XPA, MPI, TRPV4, ANO5, SGCA, PKLR, AGPAT2, ATP2A1, ERCC3, DCXR, TTC37, GNS, ANO6, CYB5A, P3H1, TMC6, POLG, SCARB2, UBR1, RPS29, EHHADH, GTPBP3, PDCD1, GK, EARS2, CRYAB, PTH1R, VPS33B, NRAS, LIPC, LCAT, MEN1, FGFR3, HPRT1, TMEM67, DYNC2H1, SLC22A12, NLRC4, FANCA, STS, RB1, FGF23, STX11, STAT3, HMGCS2, BRAF, SLC26A3, CUBN, NDUFS3, CETP, MC4R, PIGA, NCF1, GCLC, ALPL, GNPTG, NDUFB3, FOLR1, MT-ATP6, IGF1, OPCML, FGB, SMAD9, MYBPC3, NEUROD1, SC5D, GMPPB, PEX11B, AASS, BMP2, HBG2, TNFAIP3, ALDH3A2, EDNRB, TNFRSF11B, GBE1, TXNL4A, PCSK1, ASCL1, NAGLU, MUT, ETFA, EGFR, COG4, LRP2, CASP8, TNFRSF10B, MAPK8IP1, PIGR, DHCR24, SLC20A2, PRSS1, NPC1, UMOD, AKAP10, ANTXR1, GALE, ITGA6, KIT, MT-ND3, OCLN, NDUFV1, OTC, VDR, MYO1E, COL6A2, ZAP70, KRT8, TPMT, PDHX, SLC12A6, MTRR, NR3C1, PRKCSH, ABCB6, PGM1, PEPD, FTH1, RRAS2, VCP, MTR, STAT1, APPL1, TSC1, F8, CACNA1C, PARK2, SLC34A1, HADHA, DUOX2, SLC2A4, LDLR, BLM, DNMT1, ACTN4, TINF2, IL6, ITM2B, OFD1, B4GALT1, PCSK9, HCFC1, CEBPE, AGA, APC, TUFM, SLC3A1, GDNF, ASPA, AP2S1, SLC10A2, MAPT, ADA, LDHA, CFD, HPGD, C10orf2, F10, BGLAP, MTOR, PDX1, DYRK1B, TNNI3, MYH14, KCNJ10, GAA, F7, RPS17, FAS, BRCA2, SQSTM1, WNK4, HEXB, MUC1, CAV1, CTH, AGT, PMM2, MOGS, PPP1R3A, DKC1, PSAT1, CDH1, MCM6, NEB, STK11, FMR1, CDKN1C, MBL2, PNPLA2, LAMB2, APRT, FANCM, PLEKHG5, PIK3CA, ALAD, ABCD1, ACSL4, SIL1, JAG1, HNRNPA1, GFPT1, SBDS, CNBP, THBS4, COL2A1, NUBPL, ACTA1, F5, ITPR3, PLEC, HLA-DQA1, SCNN1G, QDPR, ABCB11, SLC39A4, PGK1, NOS3, GFRA1, KLKB1, SORT1, CAD, SCNN1A, HEXA, NTRK1, COL1A2, ABCA1, PLOD1, PROC, PLOD3, PSMB8, PNPT1, APTX, MET, CAPN5, ANLN, SLC25A13, MCPH1, SUCLA2, CD44, C3, BCR, FKBP14, TMEM173, SPRY2, GUCY2C, IFNG, RBP4, GP9, MPC1, TFG, INS, ABCC8, TYRP1, KCNA5, FCGR2A, APOE, PFKM, TYR, ACAT1, SMPD1, KCNN4, HSD17B10, SDHD, SLC22A5, PAX2, LMX1B, HLA-DRB1, CNTN1, TGFB1, GNA11, COL4A1, KIF1B, LTBP2, TNFRSF1A, BRCA1, ITGB2, HIBCH, FN1, CYBB, FLNB, ACACA, PHYH, KLF1, BMPR1A, ATP5A1, AKT2, PC, PHGDH, DCTN1, SLC9A3R1, RPSA, RTN4R, HNRNPDL, ACY1, TERT, HNF1A, TSHR, ACADSB, ATIC, PTEN, F13A1, ABCD3, GSN, CFH, STAT2, RYR2, PLG, SH2D1A, FAH, CLN3, SSR4, SLC7A9, CORO1A, SLC40A1, IL4R, CHEK2, MT-ND4, PUF60, CASP10, AHNAK, JAK3, CDKN2A, ATP7A, ITGB4, AFP, DMD, WAS, POMT1, AMN, APOC2, FADD, CFB, RNASET2, LRBA, RBCK1, LHCGR, SCN5A, CBX2, GBA, SLC1A1, SERPINA6, CACNA1S, ACD, PLOD2, TRH, TCN2, UPB1, CRB2, KHK, IRS2, MTAP, SERPINF2, C8A, BAG3, SLC25A12, CD46, SLC12A3, DHFR, SLC36A2, ETFB, CHI3L1, DSG1, FUCA1, USP8, TPP1, HCRT, CP, COL1A1, SDHB, PRPH, ZBTB24, ARG1, PIGT, MYD88, TAP1, ITGB3, STK10, MPO, PPARG, INSR, COL5A1, OAT, PRKAR1A, SLC11A2, KISS1R, CDSN, BTK, PEX6, OCRL, MAN2B1, TNPO3, MASP2, HNF1B, NEU1, ALG2, PRODH, ERCC2, WNT4, CECR1, GNAI2, VIPAS39, EMD, SLC5A5, NDUFB9, MT-ND2, ATP6V0A2, MATR3, IRS1, PTCH1, SERPIND1, APOA2, KRAS, TP53, ABCA12, SYN2, MTTP, DNAJC5, WRN, KRT4, CDAN1, ZHX2, GLUL, LMNB1, RPIA, ARSA, UMPS, NPHS2, COQ6, GPR143, PGR, ALDH2, BCKDHA, COPA, KRT18, SLC9A3, MRPL44, GLA, ASS1, C4A, TJP2, AVPR2, FAM20A, NCF2, ITIH4, EPHX2, AP1S1, THRB, NUP107, MAX, NR3C2, SLC7A7, ITK, CLN5, GLUD1, DTNBP1, BPGM, HRG, BMPR2, TTR, FLNC, VHL, GJA1, CFHR3, FTCD, AHSG, BCS1L, SPR, VWF, MECP2, MVK, PGAM2, CASR, CTLA4, GCK, MYO5B, TG, PYGM, TSC2, FOXP3, IL1RN, TH, SLC26A2, HYAL1, HADHB, NDUFS1, MRPL3, IGF1R, CFI, UQCRC2, FGG, ABCC2, PHOX2B, GPD2, AXIN1, PLAU, CYP2C9, NUP93, MCM4, ARSB, DNMT3B, OGDH, SEMA3E, ZDHHC15, ACADM, NPC2, DDOST, TAPBP, LMBRD1, SKIV2L, PAH, SUMF1, SELP, NME1, FLNA, STX16, PSAP, LYZ, HCCS, RETN, DPYS, ASL, PRNP, HBA1, RPL35A, ATM, AHCY, GLB1, LRPPRC, AVP, DISC1, NLRP3, PRKACA, FXN, CD19, GALC, NOTCH1, BLVRA, SLC5A1, CPS1, RPGR, SLC16A1, MARS, RPL11, GCH1, FANCC, LCT, FBN1, RET, PEX19, PNP, HPS1, POLR2F, FASLG, ITGA7, NAGA, MPDU1, CFHR1, SAR1B, CFTR, MYH11, MT-ND1, MTHFD1, GOSR2, GCGR, KDR, HFE, CACNA1D, PIK3R1

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}, REVESZ SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MULTIPLE SULFATASE DEFICIENCY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, 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, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMBINED FACTOR V AND VIII DEFICIENCY, GLUCOCORTICOID RESISTANCE, ALBINISM, OCULOCUTANEOUS, TYPE IA, GLYCOGEN STORAGE DISEASE II, MUCOPOLYSACCHARIDOSIS IS, DANON DISEASE, HERMANSKY-PUDLAK SYNDROME 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, CEROID LIPOFUSCINOSIS, NEURONAL, 2, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FUCOSIDOSIS, DEMENTIA, FAMILIAL DANISH, IMMUNODEFICIENCY 43, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, MANNOSIDOSIS, BETA, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NIEMANN-PICK DISEASE TYPE C1, ICHTHYOSIS, X-LINKED, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MICROVILLUS INCLUSION DISEASE, PITUITARY DEPENDENT HYPERCORTISOLISM, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ATRANSFERRINEMIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CEROID LIPOFUSCINOSIS, NEURONAL, 5, PRIMARY PULMONARY HYPERTENSION, HEMOPHILIA A, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, BURKITT LYMPHOMA, CITRULLINEMIA, MUCOPOLYSACCHARIDOSIS IH, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, MYELOPEROXIDASE DEFICIENCY, COMBINED SAP DEFICIENCY, GALACTOSIALIDOSIS, CEREBRAL AMYLOID ANGIOPATHY, 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, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, MEDNIK SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HEREDITARY FACTOR VIII DEFICIENCY DISEASE, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, ALZHEIMER DISEASE-2, NIEMANN-PICK DISEASE, TYPE C2, NEPHROTIC SYNDROME, TYPE 1, CEROID LIPOFUSCINOSIS, NEURONAL, 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LIANG DISTAL MYOPATHY, MUCOPOLYSACCHARIDOSIS TYPE IIID, ?MUCOPOLYSACCHARIDOSIS TYPE IX, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, LYMPHOPROLIFERATIVE SYNDROME 1, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MUCOPOLYSACCHARIDOSIS IH/S, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, METACHROMATIC LEUKODYSTROPHY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PLASMA FIBRONECTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, KRABBE DISEASE, ATYPICAL, [CHITOTRIOSIDASE DEFICIENCY], CARDIOMYOPATHY, DILATED, 1A, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ASPARTYLGLUCOSAMINURIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, KANZAKI DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 3, DIABETES INSIPIDUS, NEPHROGENIC, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, BARAITSER-WINTER SYNDROME 1, PAGET DISEASE OF BONE 3, {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}, GM1-GANGLIOSIDOSIS, TYPE III, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, AGAMMAGLOBULINEMIA 3, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PSEUDOHYPOALDOSTERONISM, TYPE IIE, PSEUDOHYPOALDOSTERONISM, TYPE 2, CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE, FARBER LIPOGRANULOMATOSIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, KRABBE DISEASE, SEA-BLUE HISTIOCYTE DISEASE, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, TYROSINEMIA, TYPE II, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

APOE, FUCA1, LMAN1, TPP1, TNNI3, CLN3, MYC, ACTB, FAS, CUL3, MYD88, CTSA, AP2S1, GLB1, AGT, PPARG, VMA21, SLC11A2, GALC, BTK, FGA, MANBA, MAN2B1, CCDC115, LRBA, NEU1, PIK3CA, MPO, NPC1, PRF1, IRS1, GNAI2, LDLR, MITF, ACP2, LAMP2, MMP2, APOA1, PLAU, EGFR, SYN2, DRD3, NME1, CD79A, SQSTM1, HYAL1, IL6, NAGA, MTNR1B, ASAH1, CST3, SCARB2, PAX2, CTSF, GTPBP3, CALR, ITM2B, ASS1, STAT1, VPS33B, NAGLU, NCF2, AP1S1, STS, CHIT1, ITK, CLN5, STAT3, INS, CUBN, HRG, KCNA5, NCF1, CD44, TYR, GJA1, IGF1, GNS, CTNS, MYBPC3, HLA-DRB1, CASR, CTSD, MYO5B, BRCA1, FN1, CYBB, B2M, CFTR, RNASET2, NPHS1, LIPA, LRP2, AKT1, ARSB, ARSA, AQP2, FGFR3, ATP13A2, NPC2, IDUA, GAA, KIT, SUMF1, BCL10, TAT, PSAP, MYH7, HTR2A, KNG1, MRPL3, NTRK1, TNFAIP3, VCP, TGFB1, HEXB, F8, HLA-B, NOS3, PLG, FADD, TP53, ALDOA, PPT1, GLA, PCSK9, TF, AGA, TUFM, HRAS, FASLG, ADA, SELP, NR3C1, TINF2, HPS1, MTOR

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {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}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, GLYCOGEN STORAGE DISEASE XI, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, PITUITARY ADENOMA, ACTH-SECRETING, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, MENKES DISEASE, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ALZHEIMER DISEASE-2, WILSON DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 3, LIPOPROTEIN LIPASE DEFICIENCY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CEREBRAL AMYLOID ANGIOPATHY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HEMOCHROMATOSIS, TYPE 2B, 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLUCOCORTICOID RESISTANCE, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, DIABETES INSIPIDUS, NEPHROGENIC, DANON DISEASE, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], OCCIPITAL HORN SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, HYPOBETALIPOPROTEINEMIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, HEMOCHROMATOSIS, TYPE 4, AGAMMAGLOBULINEMIA 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}, PSEUDOHYPOALDOSTERONISM, TYPE I, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SEA-BLUE HISTIOCYTE DISEASE, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, AGAMMAGLOBULINEMIA 3, LIPOID ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ATRANSFERRINEMIA, COMBINED HYPERLIPIDEMIA, FAMILIAL, SELECTIVE T-CELL DEFECT, ALZHEIMER DISEASE, TYPE 4, GALACTOSIALIDOSIS, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, PAGET DISEASE OF BONE 3, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PLASMA FIBRONECTIN DEFICIENCY, IMMUNODEFICIENCY 43, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, ZINC DEFICIENCY, TRANSIENT NEONATAL, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1

APOE, CALR, SLC2A1, OAT, LAMP2, CLN3, APOA1, TSC2, IGF2R, IGF1, SLC9A3R1, LDHA, SQSTM1, NTRK1, CTSA, LPL, HLA-DRB1, CFTR, ATP7A, CD79A, LDLR, SCNN1A, CST3, SLC40A1, APOB, SLC11A2, NR3C1, AKT1, GJA1, AXIN1, DNMT1, B2M, SLC2A4, VCP, PSEN1, PTH, KCNN4, STAR, IGHM, VPS33B, PCSK9, AVPR2, DCTN1, MYC, TF, CTNS, TP53, FN1, SLC30A2, EGFR, ATP7B, MAPT, USP8, ZAP70, STX11, HAMP, VIPAS39, SELP, TTPA, INS, PTEN

PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), {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}, HMG-COA LYASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11B, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), MENTAL RETARDATION, X-LINKED 63, PERRAULT SYNDROME 1, PHYTANIC ACID STORAGE DISEASE, PEROXISOME BIOGENESIS DISORDER 3B, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, SHORT SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 7B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PEROXISOME BIOGENESIS DISORDER 6B, CHILD SYNDROME, CK SYNDROME, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, ?FANCONI RENOTUBULAR SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), ALAGILLE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, PEROXISOME BIOGENESIS DISORDER 2B, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 8B, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), XANTHINURIA, TYPE I, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, CALCIUM OXALATE UROLITHIASIS, PEROXISOME BIOGENESIS DISORDER 4B, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PEROXISOME BIOGENESIS DISORDER 14B, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, SJOGREN-LARSSON SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, BURKITT LYMPHOMA

PEX1, PEX14, MLYCD, DAO, CTNNB1, SOD1, AGPS, ACOX1, MTHFD1, HSD17B4, PEX3, PEX19, PEX6, PEX12, PEX11B, AGT, HADHB, AMACR, ALDH3A2, HMGCL, NSDHL, PEX26, PEX16, BAAT, PHYH, GNPAT, EHHADH, PEX10, PEX13, PNPLA8, DNM1L, MYC, MPV17, EPHX2, AGXT, ABCD1, TMEM173, IRS2, ABCD4, ACSL4, JAG1, XDH, PEX5, ABCD3, PEX7, NDUFS2, HAO1, DHFR, FAR1, PIK3R1

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}, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), CAFFEY DISEASE, BURKITT LYMPHOMA, NIEMANN-PICK DISEASE, TYPE A, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, CEROID LIPOFUSCINOSIS, NEURONAL, 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS VII, GM2-GANGLIOSIDOSIS, AB VARIANT, MUCOPOLYSACCHARIDOSIS IH/S, TRANSCOBALAMIN II DEFICIENCY, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CEROID LIPOFUSCINOSIS, NEURONAL, 5, GM1-GANGLIOSIDOSIS, TYPE III, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ?MUCOPOLYSACCHARIDOSIS TYPE IX, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IS, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, CEROID LIPOFUSCINOSIS, NEURONAL, 10, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, MUCOPOLYSACCHARIDOSIS TYPE IIID, KRABBE DISEASE, ATYPICAL, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, CEROID LIPOFUSCINOSIS NEURONAL 6, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE, CALCIUM OXALATE UROLITHIASIS, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, FARBER LIPOGRANULOMATOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ICHTHYOSIS, X-LINKED, MUCOPOLYSACCHARIDOSIS IVA, MUCOPOLYSACCHARIDOSIS IH, METACHROMATIC LEUKODYSTROPHY, TUBEROUS SCLEROSIS 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, KRABBE DISEASE, GALACTOSIALIDOSIS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLASMA FIBRONECTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, GAUCHER DISEASE, TYPE II, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, GAUCHER DISEASE, TYPE IIIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, COMBINED SAP DEFICIENCY, GAUCHER DISEASE, TYPE I, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II

ACTA1, FASLG, SGSH, TPP1, GIF, SMPD1, APOA1, COL1A1, IGF1, ACP2, GNS, HEXB, STAT1, DRD3, GUSB, IDS, TGFB1, PSAP, ASAH1, HEXA, BMP2, NOS3, GALC, FN1, RNASET2, IDUA, MRPL3, NAGLU, GLB1, GBA, IL6, IFNG, GLA, HLA-DRB1, LRP2, MYC, CD44, CNTN5, TCN2, GALNS, CTSF, NOTCH1, EGFR, ARSA, STS, CTSA, CLN5, NEU1, ARSB, GM2A, SCARB2, INS, CUBN, HYAL1, CTSD

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, HYPER-IGE RECURRENT INFECTION SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 6, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, NEPHROLITHIASIS, TYPE I, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, GLYCOGEN STORAGE DISEASE II, {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}, DENT DISEASE, HYPOPHOSPHATASIA, INFANTILE, SALLA DISEASE, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, BILE ACID MALABSORPTION, PRIMARY, IMMUNODEFICIENCY 43, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, RENAL CYSTS AND DIABETES SYNDROME, GAUCHER DISEASE, TYPE IIIC, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ZINC DEFICIENCY, TRANSIENT NEONATAL, PITUITARY DEPENDENT HYPERCORTISOLISM, ALZHEIMER DISEASE-2, CEROID LIPOFUSCINOSIS, NEURONAL, 5, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, WRINKLY SKIN SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], BURKITT LYMPHOMA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, BETHLEM MYOPATHY 1, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, CHYLOMICRON RETENTION DISEASE, COMBINED SAP DEFICIENCY, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MUCOLIPIDOSIS IV, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, GAUCHER DISEASE, TYPE I, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MEDNIK SYNDROME, POLYCYTHEMIA VERA, SOMATIC, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, GAUCHER DISEASE, TYPE III, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], OCULAR ALBINISM, TYPE I, NETTLESHIP-FALLS TYPE, 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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, PLASMA FIBRONECTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, KRABBE DISEASE, ATYPICAL, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, PSEUDOHYPOPARATHYROIDISM IA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, SIALIC ACID STORAGE DISORDER, INFANTILE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ALPHA-FETOPROTEIN DEFICIENCY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPOPHOSPHATASIA, CHILDHOOD, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CYSTINURIA, PAGET DISEASE OF BONE 3, DANON DISEASE, GAUCHER DISEASE, TYPE II, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CEROID LIPOFUSCINOSIS, NEURONAL, 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, SEA-BLUE HISTIOCYTE DISEASE, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, 10, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME

APOE, DNM2, CAV1, CLN3, CP, MYC, GAA, ACTB, GNAS, MYD88, CTSA, AGT, OCA2, SLC11A2, CDH1, APOB, BTK, FGA, B2M, SLC17A5, COL6A1, NEU1, TRIM32, NPC1, SLC30A2, CDC73, FGG, SMAD4, CLCN7, ATP6V0A2, ACP2, KRAS, APOA1, HLA-DQA1, CASP8, EGFR, CLCN5, HBA1, SQSTM1, LMNB1, SORT1, IGF2R, MTOR, TNNI3, SCARB2, GPR143, JAK2, GTPBP3, PSMB8, HGSNAT, CCND1, PSEN1, IFNG, STAT1, VPS33B, TCIRG1, AP1S1, DYNC2H1, PTPN1, SLC7A7, CLN5, ENPP1, STAT3, INS, TMEM165, HRG, NCF1, CD44, ALPL, AGL, CTNNB1, HNF1B, IGF1, MCOLN1, SLC29A3, HLA-DRB1, PSEN2, CTSD, GNA11, FOXP3, HRAS, FN1, OSTM1, VCP, HLA-DQB1, DCTN1, MAPK8IP1, AKT1, LAMP2, SLC9A3R1, ATP13A2, LMBRD1, SELP, DNAJC5, PSAP, AHNAK, MYBPC3, AFP, INSR, PLG, FADD, DNMT1, IL6, GBA, CALR, CTNS, CUBN, SLC3A1, LRP2, SLC10A2, SAR1B, STX16, GOSR2, TUFM, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PERRAULT 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}, HYPEROXALURIA, PRIMARY, TYPE II, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MALONYL-COA DECARBOXYLASE DEFICIENCY, PHYTANIC ACID STORAGE DISEASE, PEROXISOME BIOGENESIS DISORDER 3B, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, D-BIFUNCTIONAL PROTEIN DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, CALCIUM OXALATE UROLITHIASIS, RUBINSTEIN-TAYBI SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}

PEX14, GRHPR, DAO, AGPS, ACOX1, MTHFD1, HSD17B4, PEX12, AMACR, PHYH, AGXT, BAAT, GNPAT, MLYCD, PEX19, IRS2, FAR1, CREBBP, ABCD3, PEX7, HAO1, DHFR, PEX5

COMBINED HYPERLIPIDEMIA, FAMILIAL, HYPOBETALIPOPROTEINEMIA, TUBEROUS SCLEROSIS 2, LIPOPROTEIN LIPASE DEFICIENCY, IMMUNODEFICIENCY 43, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {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}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ATRANSFERRINEMIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, POLYCYTHEMIA VERA, SOMATIC

LPL, HLA-DRB1, TF, IFNG, APOB, APPL1, B2M, STAT3, PRF1, CALR, INS, PIK3CA, JAK2, AKT1

ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 5B, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11B, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), FANCONI ANEMIA, COMPLEMENTATION GROUP A, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 2B, PEROXISOME BIOGENESIS DISORDER 3B, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, PEROXISOME BIOGENESIS DISORDER 6B, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 14B, D-BIFUNCTIONAL PROTEIN DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 8B, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, MENTAL RETARDATION, X-LINKED 63, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE

PEX1, PEX14, DAO, AGPS, ACOX1, ABCD3, HSD17B4, PEX6, PEX12, PEX11B, BRCA1, AGXT, PEX10, PEX3, GNPAT, ACSL4, PNPLA8, PEX19, ABCD1, PEX16, PEX13, ABCD4, PEX5, PEX2, IKBKAP, FAR1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {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}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, LOWE SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PERIODIC FEVER, FAMILIAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ANDROGEN INSENSITIVITY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, RUBINSTEIN-TAYBI SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, YUNIS-VARON SYNDROME, OCCIPITAL HORN SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, 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, CALCIUM OXALATE UROLITHIASIS, ?PROGESTERONE RESISTANCE, TUBEROUS SCLEROSIS 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, IMMUNODEFICIENCY 43, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, DENT DISEASE 2, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY

CALR, MYC, SMAD4, CREBBP, AR, NTRK1, HLA-DRB1, VCP, ATP7A, APPL1, HLA-B, TNFRSF1A, PGR, AKT1, TP53, GTPBP3, B2M, IL6, IFNG, STX11, CASP8, CD44, HRAS, SPRY2, OCRL, ECHS1, SLC9A3R1, CFTR, KDR, TMEM165, FIG4

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, BARAITSER-WINTER SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PSEUDOHYPOALDOSTERONISM, TYPE 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, POLYCYSTIC LIVER DISEASE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, CPT DEFICIENCY, HEPATIC, TYPE IA, PEROXISOME BIOGENESIS DISORDER 2B, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ANDROGEN INSENSITIVITY, {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}, TRIFUNCTIONAL PROTEIN DEFICIENCY, PERIODIC FEVER, FAMILIAL, METHEMOGLOBINEMIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, HYPOPHOSPHATASIA, CHILDHOOD, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, GLYCEROL KINASE DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BRUNNER SYNDROME, ACROMICRIC DYSPLASIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PSEUDOHYPOALDOSTERONISM, TYPE IIE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HYPOPHOSPHATASIA, INFANTILE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, MENTAL RETARDATION, X-LINKED 63, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?PROGESTERONE RESISTANCE, CITRULLINEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DIABETES INSIPIDUS, NEPHROGENIC, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, HYPERTHYROIDISM, NONAUTOIMMUNE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, SMITH-KINGSMORE SYNDROME, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, 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, {KURU, SUSCEPTIBILITY TO}, LEBER CONGENITAL AMAUROSIS 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, SMITH-LEMLI-OPITZ SYNDROME

PEX5, TSC2, AR, FLNA, SYNE1, PLEC, GJA1, TP53, NDUFS3, TH, CUL3, GUCY2D, DHCR7, PRKCSH, ABCB6, PRNP, PSEN1, CYP27B1, KRAS, IL6, MTOR, LTC4S, BCS1L, PGR, AKT1, CPT1A, GK, CYB5A, LRPPRC, PTH, ASS1, NME1, FBN1, AVPR2, DNM1L, CASP8, LMNB1, PEX19, MAOA, TNFRSF1A, TMEM173, ACSL4, ALPL, PTPN1, TSHR, EMD, ACTB, CYB5R3, ITPR3, NR3C1, HK1, SYNE2, HADHB, NDUFS2

MULLERIAN APLASIA AND HYPERANDROGENISM, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, {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, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, CAFFEY DISEASE, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NOONAN SYNDROME 4, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, FACTOR VII DEFICIENCY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, PLASMA FIBRONECTIN DEFICIENCY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, COMPLEMENT FACTOR D DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ATRANSFERRINEMIA, TRYPSINOGEN DEFICIENCY, KNIEST DYSPLASIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], HEMOPHILIA A, HYPOBETALIPOPROTEINEMIA, HEMOPHILIA B, {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}, {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, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY CYSTIC KIDNEY DISEASE 1, CALCIUM OXALATE UROLITHIASIS, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, TUBEROUS SCLEROSIS 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, FACTOR X DEFICIENCY, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY

SERPINC1, TF, MMP2, PROS1, TP53, MYC, F7, F9, AKT1, TGFB1, PAX2, MUC1, IL6, AGT, F5, CFD, F8, BMP2, NOS3, GGCX, CDH1, APOB, SOS1, CCND1, PROC, IGF1R, MET, IFNG, COL1A1, CD44, FN1, F10, EGFR, WNT4, PRSS1, SELP, STAT3, COL2A1, NOTCH1, INS, CTNNB1, PTEN, TCF7L2

BARAITSER-WINTER SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, {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}, ABETALIPOPROTEINEMIA, ?NARCOLEPSY 1, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, GLUTAMINE DEFICIENCY, CONGENITAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, RIPPLING MUSCLE DISEASE, SPHEROCYTOSIS, TYPE 4, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, C3 DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, DIABETES INSIPIDUS, NEPHROGENIC, 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, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DUCHENNE MUSCULAR DYSTROPHY, PYRUVATE KINASE DEFICIENCY, {METABOLIC SYNDROME, PROTECTION AGAINST}, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CRYOHYDROCYTOSIS, 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}, RENAL TUBULAR ACIDOSIS, DISTAL, AR, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, ANDERSEN SYNDROME, BURKITT LYMPHOMA, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, ?PROGESTERONE RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, PITUITARY ADENOMA, ACTH-SECRETING, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PLASMA FIBRONECTIN DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

NCF1, ACTB, CYBB, CAV3, MYC, CDKAL1, MTTP, PLEC, TGFB1, SLC4A1, PSEN1, GLUL, CASR, DMD, HLA-B, PKLR, PGR, AKT1, APOB, FKRP, LRP2, PCSK9, C3, KCNJ2, FN1, HCRT, DAG1, AQP2, BGLAP, HTR2A, GNAI2, INS, ARSB, GCGR

BARAITSER-WINTER SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 2, BECKWITH-WIEDEMANN 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}, PEROXISOME BIOGENESIS DISORDER 5B, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPERPARATHYROIDISM 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPERFERRITINEMIA-CATARACT SYNDROME, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, COCKAYNE SYNDROME, TYPE A, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE VI, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, GLASS SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOLYSIS, FAMILIAL EXPANSILE, SHORT SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, 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, NIJMEGEN BREAKAGE SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, GLUCOCORTICOID RESISTANCE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, COCKAYNE SYNDROME, TYPE B, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, DIAMOND-BLACKFAN ANEMIA 3, {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}, CEREBROOCULOFACIOSKELETAL SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), HEMOCHROMATOSIS TYPE 1, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, DIAMOND-BLACKFAN ANEMIA 8, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROPIONICACIDEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MANDIBULOACRAL DYSPLASIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, WOODHOUSE-SAKATI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), ATAXIA-TELANGIECTASIA, PRIMARY PULMONARY HYPERTENSION, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, PERIODIC FEVER, FAMILIAL, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 20, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 6, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ?46XY SEX REVERSAL 5, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ACUTE MYELOID LEUKEMIA, M6 TYPE, PSEUDOHYPOALDOSTERONISM, TYPE IID, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, NEPHROTIC SYNDROME, TYPE 8, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, BURKITT LYMPHOMA, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, GLYCINE ENCEPHALOPATHY, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, 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, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, HYPOMAGNESEMIA 2, RENAL, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PANCREATIC AGENESIS 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ERYTHROCYTOSIS, FAMILIAL, 3, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TRICHOHEPATOENTERIC SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, NOONAN SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, LEBER OPTIC ATROPHY AND DYSTONIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, GLYCOGEN STORAGE DISEASE IXC, COMMON VARIABLE IMMUNODEFICIENCY 1, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, 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}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, PITUITARY DEPENDENT HYPERCORTISOLISM, MULTIPLE ENDOCRINE NEOPLASIA 1, UV-SENSITIVE SYNDROME 2, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), MUSCULAR DYSTROPHY, CONGENITAL, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?CHARGE SYNDROME, CHARGE SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, GLOMUVENOUS MALFORMATIONS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, GLYCOGEN STORAGE DISEASE VII, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?N SYNDROME, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, [PREMATURE CHROMATID SEPARATION TRAIT], IMAGE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, SMALL CELL CANCER OF THE LUNG, SOMATIC, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, XERODERMA PIGMENTOSUM, VARIANT TYPE, GABA-TRANSAMINASE DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BLOOM SYNDROME, PHYTANIC ACID STORAGE DISEASE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, 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, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PARAGANGLIOMAS 3, FAMILIAL MEDITERRANEAN FEVER, AD, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ANDROGEN INSENSITIVITY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, OROFACIODIGITAL SYNDROME I, PAGET DISEASE OF BONE 3, KARTAGENER SYNDROME, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, {MELANOMA, CUTANEOUS MALIGNANT, 2}, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, DYSAUTONOMIA, FAMILIAL, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MYOTONIC DYSTROPHY 2, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, PSEUDOHYPOALDOSTERONISM, TYPE 2, DIAMOND-BLACKFAN ANEMIA 7, JOHANSON-BLIZZARD SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, PARAGANGLIOMAS 4, XERODERMA PIGMENTOSUM, GROUP B, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ATAXIA-OCULOMOTOR APRAXIA 3, MYOGLOBINURIA, RECURRENT, RIDDLE SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, ?GLYCOGEN STORAGE DISEASE XIII, XERODERMA PIGMENTOSUM, GROUP D, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, 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, BRODY MYOPATHY, SMITH-KINGSMORE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4

DYRK1B, RPL5, PEX14, MITF, CYBA, ARHGDIA, DNAH11, SOD1, MYC, BCKDHB, PRKACA, ACTB, NDUFA11, CUL3, EGLN1, ATP6V1B1, NDUFS2, KLHL3, NDUFA1, AGT, DBT, PCCB, PPARG, CTNNB1, SDHA, PIGT, PPP1R3A, STT3B, SLC11A2, DNAH5, CDH1, GLMN, MCM6, SOS1, STK11, PLG, CDKN2A, THRA, DPM2, ERCC6, IRS1, CDKN3, NDUFS8, PIK3CA, NBN, NDUFV2, GLUD1, CDC73, ERCC2, MEFV, EMD, HELLS, SMAD4, DNAI2, CNBP, CREBBP, ABCB6, DLD, NDUFB9, GNAI2, DYNC2H1, RPS7, BCKDHA, ACTA1, GCM2, SDHD, CHD7, KRAS, COPA, CASP8, EGFR, SYN2, PHKA2, SLC9A3R1, AR, PYGL, PGK1, NOS3, ATP2A1, ERCC3, CCDC114, TTC37, BLM, BUB1B, ERCC1, MTOR, LPIN1, SDHC, HMGA1, SDHB, SQSTM1, LMNA, MYBPC3, ABAT, DDOST, GFPT1, MARS, MRE11A, STT3A, IKBKAP, CCND1, NR0B1, MT-ND2, CRYAB, MEN1, FTL, DNAI1, TNFRSF1A, GTPBP3, MAX, OCLN, MT-CYB, ABCD4, NDUFA9, GPD1, FBXL4, HCFC1, FXYD2, TUFM, VCP, POLA1, NDUFA10, SLC26A3, ABCC8, IGF1, NDUFS7, BMPR2, ING3, GATA1, FASLG, NCF1, FLNC, AGL, NDUFB3, KCNN4, PHKB, DNAH8, PNPT1, NDUFA12, HNF4A, ENO3, DDB2, UBR1, NEUROD1, HLA-DRB1, NFKB2, VHL, CYC1, BCS1L, DPM1, BMP2, POLR2F, BRCA1, PRKAR1A, AKT1, AXIN1, VDR, TSC2, SETD1A, PARK2, WAS, UQCRC2, TNFRSF11A, POLG, NDUFS6, NCF2, MT-ND1, DCTN1, DNA2, SPRY2, GLI3, POLD1, ERCC8, MCM4, DNAH1, CDKN1C, DNMT3B, OGDH, PTEN, PIK3R5, BRAF, CFTR, POLH, RBCK1, STAT3, MT-ND3, NDUFS1, EPOR, NDUFV1, PFKM, NDUFS3, PIGA, FLNA, SUCLG1, PCBD1, CYBB, APOB, HINT1, FHL1, CHEK2, RNF168, NR3C1, MT-ND4, CASP10, PHKG2, WRN, PTPN11, ATM, PDHX, IGF1R, HNF1B, PDHA1, STAT1, TSC1, NHLRC1, CACNA1C, INSR, NDUFAF1, NOTCH1, NDUFS4, CLPB, FADD, TP53, UQCRB, DNMT1, ACTN4, MECP2, CBX2, RB1, NDUFA2, RPL11, GATA4, OFD1, INS, MT-ND5, DLAT, TGFB1, RPS24, HRAS, IRS2, GCSH, PDX1, AGPAT2, GPD2, PEX2, CAD, PEX7, DCAF17, KDR, GCLC, SATB2, CORO1A, PIK3R1

CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, FACTOR V DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, SELECTIVE T-CELL DEFECT, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, CEROID LIPOFUSCINOSIS NEURONAL 6, ACRODERMATITIS ENTEROPATHICA, {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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, BOUCHER-NEUHAUSER SYNDROME, MEDULLARY CYSTIC KIDNEY DISEASE 1, GLUCOCORTICOID DEFICIENCY 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ?PROGESTERONE RESISTANCE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, ?REYNOLDS SYNDROME, ALPHA-2-MACROGLOBULIN DEFICIENCY, MANDIBULOACRAL DYSPLASIA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, MEND SYNDROME, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, C3 DEFICIENCY, HYPOURICEMIA, RENAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, BRUCK SYNDROME 2, [BILIRUBIN, SERUM LEVEL OF, QTL1], MICROVILLUS INCLUSION DISEASE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, CK SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, ATRANSFERRINEMIA, FANCONI-BICKEL SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HARTNUP DISORDER, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, [URIC ACID CONCENTRATION, SERUM, QTL1], TIMOTHY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, VITREORETINOCHOROIDOPATHY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GLYCOGEN STORAGE DISEASE IA, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, ?WEBB-DATTANI SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, HEMOCHROMATOSIS, TYPE 4, AGAMMAGLOBULINEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MODY, TYPE III, {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, MYOPATHY, MYOFIBRILLAR, 4, GLYCOGEN STORAGE DISEASE IC, MENTAL RETARDATION, X-LINKED 63, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, HEMOCHROMATOSIS TYPE 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, [GILBERT SYNDROME], MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, TRIMETHYLAMINURIA, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, LEBER CONGENITAL AMAUROSIS 1, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, NAIL-PATELLA SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, LIPOPROTEIN LIPASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IA, MENKES DISEASE, HMG-COA SYNTHASE-2 DEFICIENCY, LIDDLE SYNDROME, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 16, THYROID DYSHORMONOGENESIS 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, AGAMMAGLOBULINEMIA 3, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, ?DIARRHEA 7, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), NEPHRONOPHTHISIS 1, JUVENILE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, GLUTAMINE DEFICIENCY, CONGENITAL, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ALPORT SYNDROME, 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, COMBINED FACTOR V AND VIII 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, BARTTER SYNDROME, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, ABCD SYNDROME, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, THRYOID DYSHORMONOGENESIS 6, STORMORKEN SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, NEPHROTIC SYNDROME, TYPE 11, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, LEUKEMIA, CHRONIC MYELOID, SOMATIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BILE ACID MALABSORPTION, PRIMARY, 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, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, HEMOPHILIA A, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, PSEUDOHYPOALDOSTERONISM, TYPE I, SEBASTIAN SYNDROME, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, ALPHA-METHYLACETOACETIC ACIDURIA, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, MALOUF SYNDROME, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, HYPOMAGNESEMIA 6, RENAL, RABSON-MENDENHALL SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MEDNIK SYNDROME, COACH SYNDROME, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LACTASE DEFICIENCY, CONGENITAL, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CRIGLER-NAJJAR SYNDROME, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, RENAL TUBULAR ACIDOSIS, DISTAL, AR, OCULAR ALBINISM, TYPE I, NETTLESHIP-FALLS TYPE, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, BECKER MUSCULAR DYSTROPHY, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, 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, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ICHTHYOSIS, X-LINKED, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, [URIC ACID CONCENTRATION, SERUM, QTL4], {GOUT SUSCEPTIBILITY 4}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, GELEOPHYSIC DYSPLASIA 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, GALLBLADDER DISEASE 1, GITELMAN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, VON WILLEBRAND DISEASE, PLATELET-TYPE, HYPOBETALIPOPROTEINEMIA, GREENBERG SKELETAL DYSPLASIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, TYROSINEMIA, TYPE II, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, SEA-BLUE HISTIOCYTE DISEASE, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 10, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], SJOGREN-LARSSON SYNDROME, BRODY MYOPATHY, 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}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ?ACAT2 DEFICIENCY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPHEROCYTOSIS, TYPE 4, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, DIARRHEA 6, ?PRECOCIOUS PUBERTY, CENTRAL, 1, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), {METABOLIC SYNDROME, PROTECTION AGAINST}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, COENZYME Q10 DEFICIENCY, PRIMARY, 6, CEROID LIPOFUSCINOSIS, NEURONAL, 1, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, FECHTNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT, DENT DISEASE, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, EPISODIC ATAXIA/MYOKYMIA SYNDROME, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HARTSFIELD SYNDROME, SITOSTEROLEMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ALPORT SYNDROME, AUTOSOMAL DOMINANT, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MIYOSHI MUSCULAR DYSTROPHY 3, PARKINSONISM-DYSTONIA, INFANTILE, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DIAMOND-BLACKFAN ANEMIA 9, FANCONI RENOTUBULAR SYNDROME 2, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, CHYLOMICRON RETENTION DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FACTOR VII DEFICIENCY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {KURU, SUSCEPTIBILITY TO}, PAPILLORENAL SYNDROME, PENDRED'S SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, BURKITT LYMPHOMA, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, GLYCOGEN STORAGE DISEASE XI, COMPLEMENT FACTOR D DEFICIENCY, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SMALL CELL CANCER OF THE LUNG, SOMATIC, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, PREMATURE OVARIAN FAILURE 1, HYPOMAGNESEMIA 1, INTESTINAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, ?N-ACETYLASPARTATE DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, PLASMA FIBRONECTIN DEFICIENCY, IMINOGLYCINURIA, DIGENIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, [PREMATURE CHROMATID SEPARATION TRAIT], ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COLORBLINDNESS, TRITAN, SESAME SYNDROME, RETINITIS PIGMENTOSA 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CPT DEFICIENCY, HEPATIC, TYPE IA, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ALPHA-FETOPROTEIN DEFICIENCY, MAY-HEGGLIN ANOMALY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, HYPERPROLINEMIA, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, ACROMICRIC DYSPLASIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPHOSPHATEMIC RICKETS, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, LEUKOCYTE ADHESION DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE 2, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, EPIDERMODYSPLASIA VERRUCIFORMIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, HYPERLIPOPROTEINEMIA, TYPE 1D, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HYPERPARATHYROIDISM 1, {OBESITY, SEVERE, SUSCEPTIBILITY TO, BMIQ9}, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 6, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, GLUCOCORTICOID RESISTANCE, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RUBINSTEIN-TAYBI SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 8, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, 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, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, DESMOSTEROLOSIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, METHEMOGLOBINEMIA, TYPE IV, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, AICARDI-GOUTIERES SYNDROME 6, COWCHOCK SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MULTIPLE ENDOCRINE NEOPLASIA IIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, GLUCOSE/GALACTOSE MALABSORPTION, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XI, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), HYPOMAGNESEMIA 2, RENAL, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, CAFFEY DISEASE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CRIGLER-NAJJAR SYNDROME, TYPE II, ALZHEIMER DISEASE-2, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, KNIEST DYSPLASIA, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LATHOSTEROLOSIS, CHILD SYNDROME, CRYOHYDROCYTOSIS, PSEUDOHYPOALDOSTERONISM, TYPE IIB, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, ABETALIPOPROTEINEMIA, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LIPASE DEFICIENCY, COMBINED, FOLATE MALABSORPTION, HEREDITARY, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, HYPOPHOSPHATASIA, CHILDHOOD, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GM1-GANGLIOSIDOSIS, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEPHROTIC SYNDROME, TYPE 12, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, DIAMOND-BLACKFAN ANEMIA 7, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEPHROTIC SYNDROME, TYPE 6, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, 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, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, APOE, RPL5, GNAI2, HBB, EPHX1, CLN3, TSC2, PIGW, EPCAM, GP1BA, LBR, CUL3, GLI3, BMPR1A, ATP6V1B1, ENPP1, SLC6A3, GGCX, NSDHL, PROS1, B2M, LHX3, RANBP2, ITGA3, PIGO, TRIM32, G6PC, RPS19, POR, CYB5R3, CREBBP, SLC6A19, PTEN, SCN4A, APOA1, SPINK5, AR, CD79A, GNAS, DAG1, BUB1B, MTOR, SYNE1, HMGA1, ALG11, IFNG, AIFM1, STT3A, CCND1, JAK2, ANK1, SUCLA2, NKX2-1, CNTN5, HSPD1, ABCD4, CYP21A2, RELN, HTR2A, PNPLA6, PDE6B, SLC12A1, CAV3, BANF1, MEN1, ALDOA, AGL, CTNNB1, SERPINC1, HNF1B, SMAD4, NLGN3, PIGY, SCNN1B, IGHM, PSEN2, SLC2A1, CTSD, ALG3, AKT1, TPI1, LRPPRC, SLC5A1, NPHS1, ABCB4, ACAT2, A2M, PTPRO, SOD1, HAMP, TTC19, TAT, PIGA, GPIHBP1, GIF, SLC46A1, KNG1, NPHP1, PTPN11, LPL, B4GALT1, SLC6A20, MT-CO2, HLA-B, TMC8, ALG1, COL4A3, STAR, GATA4, ZMPSTE24, BDNF, CALR, CTNS, POMK, LRP2, MYH9, DHCR24, TCAP, KRT1, TSC1, PIGR, TAP2, HPGD, UGT1A1, DNM2, CYBA, TREX1, APOB, MYC, F5, PGK1, PSEN1, GFAP, UGT1A4, ITGA2B, KCNA1, TRPM6, NPR2, LMAN1, SOS1, PRF1, FGG, MITF, ADAR, CAPN3, SLC9A3, CD81, NR3C2, MMP2, SLC26A4, CYP7B1, GUCY2D, ANO5, SGCA, NOTCH1, AGPAT2, ATP2A1, CBS, ITGB4, HLA-DRB1, CYB5A, TMC6, SCARB2, SGCG, EARS2, PTH, PTH1R, VPS33B, TCIRG1, SLC22A12, SI, STS, RB1, FGF23, PIGM, STAT3, HMGCS2, BRAF, SLC26A3, CUBN, DMD, MC4R, SRD5A2, AMN, NCF1, STIM1, TF, ALPL, SLC2A2, FOLR1, IGF1, SMAD9, MYBPC3, SC5D, BMP2, ALDH3A2, HRAS, VDR, FGFR1, DRD3, TP53, EGFR, CLDN16, CASP8, WNK4, BSND, DGAT1, HK1, OPN1SW, ITGA6, KIT, BCR, OCLN, CYBB, PTS, SLC12A6, NR3C1, KCNJ10, TGFB1, PGM1, ACAT1, TSHR, MFSD2A, VCP, STAT1, APPL1, F8, CACNA1C, SLC34A1, IGF1R, PLG, ETFA, CYP2A6, DNMT1, ACTN4, TINF2, IL6, TMEM199, HCFC1, DUOXA2, MS4A2, PEX16, TMEM67, SLC10A2, ADA, CFD, F10, SYNE2, SKIV2L, ATIC, LMNA, LCT, F7, FAS, MAPK8IP1, CTSA, MUC1, NTF3, AGT, BEST1, EDNRB, CDH1, STK11, LIPE, SLC37A4, PNPLA2, COL1A1, PIK3CA, NPC1, ACSL4, FMO3, CDKAL1, COL2A1, ARNT2, ACTA1, ACTB, ITPR3, PLEC, SCNN1G, QDPR, AKAP10, CLCN5, SLC39A4, NOS3, VMA21, SORT1, CAD, CLDN19, SCNN1A, MOGS, COL1A2, ABCA1, PLOD1, PLOD3, LYZ, MET, EBP, PNPLA8, HSD17B3, ANLN, CD44, C3, UMOD, TNFRSF1A, TMEM173, SPRY2, PTPN1, ALG6, CYP2D6, WAS, INS, PGAP2, KCNA5, FASLG, PFKM, ITGB3, EMD, KCNN4, HSD17B10, SLC22A5, ABCG8, PAX2, LMX1B, TJP2, CNTN1, TXN2, VHL, HNF4A, FKBP14, ITGB2, FN1, CNNM2, KRT8, ITPR2, FHL1, KLF1, FBN1, DCTN1, SLC9A3R1, RTN4R, RPS10, KISS1R, DPM2, HNF1A, GUCY2C, ABCG2, AQP2, TRPV4, ABCD3, CFTR, RYR2, CASQ1, VKORC1, SSR4, SLC40A1, PRICKLE2, ATP8B1, DPM1, BCL10, PTRF, ATP7A, ABCG5, AFP, NAT8L, POMT1, FADD, MYO1E, RP1, SLC33A1, PPT1, ZHX2, CACNA1S, ACD, PLOD2, TRH, PIGV, CRB2, IRS2, FXYD2, SERPINF2, ZAP70, CD46, SLC12A3, CYP17A1, TUFM, ALG13, CAV1, APRT, PRPH, SRD5A3, SLC17A3, PIGT, MYD88, BCAP31, TAP1, SLCO1B3, SLCO1B1, PPARG, OCA2, PRKAR1A, SLC11A2, DUOX2, DSG1, BTK, ING1, CDKN2A, TNPO3, ALG2, LMF1, WFS1, ARHGDIA, POU1F1, NDUFB9, CLN8, IRS1, CYP2R1, PTCH1, KRAS, MC3R, MTTP, GLUL, LMNB1, LPIN1, RYR1, LTC4S, NPHS2, COQ6, CRX, GPR143, PGR, COPA, KRT18, AARS2, NR0B1, MRAP, AVPR2, FMR1, SLC4A1, AP1S1, NUP107, POMT2, SLC7A7, PCBD1, SEC23B, BMPR2, TTR, RET, KCNJ11, GJA1, DYSF, AHSG, BCS1L, LDHA, VWF, PRODH, MC2R, CASR, CLN6, MYO5B, FOXP3, TH, GALE, MRPL3, DTNBP1, LDLR, SEC63, ABCC2, PIEZO1, PLAU, CYP2C9, NUP93, ARSB, APOL2, PIGN, LDB3, ACADM, DDOST, TAPBP, PAH, SUMF1, SELP, NME1, FLNA, STX16, DHCR7, FKBP10, PRNP, SLC34A3, SCN5A, GLB1, IER3IP1, DISC1, C19orf12, PRKACA, FXN, INSR, CEP57, KDR, CPT1A, RPL11, ATP5A1, DPAGT1, PEX19, MTRR, POLR2F, DOLK, MPDU1, SAR1B, MYH11, GOSR2, GCGR, HSD3B7, HFE, PIK3R1

PAPILLORENAL 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, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, MENTAL RETARDATION, X-LINKED 63, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, 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, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, POLYCYTHEMIA VERA, SOMATIC, CEROID LIPOFUSCINOSIS, NEURONAL, 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 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, SPECIFIC GRANULE DEFICIENCY, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, VAN BUCHEM DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PSEUDOHYPOALDOSTERONISM, TYPE IIC, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, EPISODIC ATAXIA/MYOKYMIA SYNDROME, 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}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALPHA-2-MACROGLOBULIN DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, IMMUNODEFICIENCY 43, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, VAN BUCHEM DISEASE, TYPE 2, ATRIOVENTRICULAR SEPTAL DEFECT 3, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LEPRECHAUNISM, BRUGADA SYNDROME 9, RIPPLING MUSCLE DISEASE, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RUBINSTEIN-TAYBI SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSONISM-DYSTONIA, INFANTILE, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DYSKERATOSIS CONGENITA, X-LINKED, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MULTIPLE ENDOCRINE NEOPLASIA IIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TIMOTHY SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, GLYCINE ENCEPHALOPATHY, ALZHEIMER DISEASE-2, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {MELANOMA, CUTANEOUS MALIGNANT, 2}, CEREBRAL AMYLOID ANGIOPATHY, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), SELECTIVE T-CELL DEFECT, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MODY, TYPE III, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, PERRAULT SYNDROME 5, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, PLASMA FIBRONECTIN DEFICIENCY, BARAITSER-WINTER SYNDROME 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?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, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, NAIL-PATELLA SYNDROME, [PREMATURE CHROMATID SEPARATION TRAIT], GLYCOGEN STORAGE DISEASE XI, PSEUDOHYPOPARATHYROIDISM IA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENKES DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ALEXANDER DISEASE, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, SED, MAROTEAUX TYPE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GLANZMANN THROMBASTHENIA, ARGININEMIA, PAGET DISEASE OF BONE 3, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, HYPOBETALIPOPROTEINEMIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, LIPOID ADRENAL HYPERPLASIA, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, SEA-BLUE HISTIOCYTE DISEASE, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, 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, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PEROXISOME BIOGENESIS DISORDER 2B, 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, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SMITH-KINGSMORE SYNDROME, NONAKA MYOPATHY

CA2, SOD1, CAV1, APOB, APOE, MYC, CST3, ACTB, GNAS, MYD88, MAPK8IP1, PSEN1, RPL5, CYBA, NTF3, AGT, PMM2, SLC6A3, CDH1, CTNNB1, BTK, B2M, CDKN2A, KCNA1, DNM2, SOS1, WNK1, ACSL4, CDC73, POR, IRS1, SMAD4, CREBBP, GNAI2, KIF1A, ACTA1, DDC, TRPV4, PLEC, APOA1, CASP8, EGFR, SERPINA1, AR, APOA2, SQSTM1, TCF7L2, IL6, DAG1, BUB1B, CACNA1D, SCNN1A, KCNJ11, MYBPC3, AKT2, KCND3, JAK2, BMPR1A, GFAP, CCND1, IFNG, PTH1R, LRP5, MPC1, DNM1L, CD44, GDNF, HSPD1, ADCY10, SPRY2, PTPN1, HCFC1, HTR2A, GLUD1, BRAF, INS, ABCC8, NDUFS7, DMD, BMPR2, KCNA5, PTCH1, CAV3, CEBPE, ITGB3, DKC1, GJA1, KCNN4, IGF1, NLGN3, LDHA, SMAD9, PAX2, LMX1B, STAT1, PSEN2, FLNA, CASR, ARG1, CCT5, GLDC, BMP2, MTOR, FN1, KRAS, TSC2, ASCL1, IGF1R, PARK2, TP53, LRP2, GLI3, A2M, AKT1, HNF1A, GNE, ACADM, PEX5, ITPR3, SLC9A3R1, IRS2, RYR2, POLA1, SLC2A1, CYBB, RETN, KNG1, TXN2, NTRK1, MMP2, SOST, SCN5A, GATA4, ATP7A, TGFB1, DISC1, WAS, CACNA1C, INSR, NOTCH1, FADD, DNMT1, ACTN4, PPT1, STAR, TNFAIP3, ACD, BDNF, TRH, RET, PEX19, KCNJ2, HRAS, FASLG, MAPT, ADA, OCLN, NCF1, ZAP70, CAD, MC4R, C10orf2, CYP17A1, GCGR, RYR1, ATIC

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}, REVESZ SYNDROME, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPERPARATHYROIDISM 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, GLUTAMINE DEFICIENCY, CONGENITAL, PYRUVATE KINASE DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NEPHROTIC SYNDROME, TYPE 9, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 6, GLUCOCORTICOID RESISTANCE, GLUTARICACIDURIA, TYPE I, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, ?PROGESTERONE RESISTANCE, COENZYME Q10 DEFICIENCY, PRIMARY, 7, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, ?REYNOLDS SYNDROME, ALZHEIMER DISEASE, TYPE 4, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, ACROMICRIC DYSPLASIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ONCOCYTOMA, ATRIOVENTRICULAR SEPTAL DEFECT 3, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, LEBER OPTIC ATROPHY AND DYSTONIA, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, HMG-COA LYASE DEFICIENCY, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, VLCAD DEFICIENCY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, DESMOSTEROLOSIS, HYPERFERRITINEMIA-CATARACT SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, PERIODIC FEVER, FAMILIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), GREENBERG SKELETAL DYSPLASIA, CUTIS LAXA, AUTOSOMAL DOMINANT 3, METHEMOGLOBINEMIA, TYPE IV, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MICROVILLUS INCLUSION DISEASE, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, BARTH SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CITRULLINEMIA, ADULT-ONSET TYPE II, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, BURKITT LYMPHOMA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CITRULLINEMIA, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, BARAITSER-WINTER SYNDROME 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, SMITH-LEMLI-OPITZ SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {KURU, SUSCEPTIBILITY TO}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, FANCONI ANEMIA, COMPLEMENTATION GROUP C, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, PARAGANGLIOMAS 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, OROTIC ACIDURIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BRUNNER SYNDROME, [URIC ACID CONCENTRATION, SERUM, QTL1], HARTSFIELD SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, NESTOR-GUILLERMO PROGERIA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CEREBROTENDINOUS XANTHOMATOSIS, TRIFUNCTIONAL PROTEIN DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), CARDIAC VALVULAR DYSPLASIA, X-LINKED, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, GLYCEROL KINASE DEFICIENCY, ?N-ACETYLASPARTATE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, L-2-HYDROXYGLUTARIC ACIDURIA, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, TRICHOHEPATOENTERIC SYNDROME 2, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MENTAL RETARDATION, X-LINKED 63, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, PERRAULT SYNDROME 5, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, HMG-COA SYNTHASE-2 DEFICIENCY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPERTHYROIDISM, NONAUTOIMMUNE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MYASTHENIC SYNDROME, CONGENITAL, 16, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, COPROPORPHYRIA, HARDEROPORPHYRIA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, SENGERS SYNDROME, POLYCYSTIC LIVER DISEASE, MYOPATHY DUE TO CPT II DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, CPT DEFICIENCY, HEPATIC, TYPE IA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CPT DEFICIENCY, HEPATIC, TYPE II, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 3, GELEOPHYSIC DYSPLASIA 2, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, HYPOPHOSPHATASIA, CHILDHOOD, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GLANZMANN THROMBASTHENIA, HYPERPROLINEMIA, TYPE I, CYSTINURIA, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, COWCHOCK SYNDROME, HYPOBETALIPOPROTEINEMIA, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, ANDROGEN INSENSITIVITY, ANEMIA, SIDEROBLASTIC, 1, PARAGANGLIOMAS 4, MICROCEPHALY, AMISH TYPE, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, HYPOMYELINATION, GLOBAL CEREBRAL, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, 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, SJOGREN-LARSSON SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME