ABNORMALITY OF METABOLISM/HOMEOSTASIS, HP:0001939

This is a cluster of phenotypes following the categories of HPO


It has 1307 associated diseases.

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Associated diseases: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VII, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2, PEROXISOME BIOGENESIS DISORDER 5B, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, MANNOSIDOSIS, ALPHA-, TYPES I AND II, AMYOTROPHIC LATERAL SCLEROSIS 20, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, {THIOPURINES, POOR METABOLISM OF, 1}, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MUSCLE GLYCOGENOSIS, ANALBUMINEMIA, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, SC PHOCOMELIA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE III, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, GLUTARICACIDURIA, TYPE I, CEROID LIPOFUSCINOSIS NEURONAL 6, ACRODERMATITIS ENTEROPATHICA, FANCONI ANEMIA, COMPLEMENTATION GROUP B, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, FANCONI RENOTUBULAR SYNDROME 2, BARTTER SYNDROME, TYPE 4B, DIGENIC, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, MIYOSHI MUSCULAR DYSTROPHY 1, COMPLEMENT FACTOR H DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, SICKLE CELL ANEMIA, AMELOGENESIS IMPERFECTA, TYPE 1E, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, MACULAR DYSTROPHY, NORTH CAROLINA TYPE, KOWARSKI SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, CHOANAL ATRESIA AND LYMPHEDEMA, GRACILE BONE DYSPLASIA, ?UROCANASE DEFICIENCY, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LARON DWARFISM, COENZYME Q10 DEFICIENCY, PRIMARY, 3, ?REYNOLDS SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, MANDIBULOACRAL DYSPLASIA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, DEMENTIA, FAMILIAL DANISH, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, PERLMAN SYNDROME, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, CARDIOFACIOCUTANEOUS SYNDROME 4, RENAL TUBULAR ACIDOSIS, DISTAL, AD, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, NATIVE AMERICAN MYOPATHY, ACATALASEMIA, INSOMNIA, FATAL FAMILIAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, [FRUCTOSURIA], MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), VELOCARDIOFACIAL SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, COENZYME Q10 DEFICIENCY, PRIMARY, 4, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, XERODERMA PIGMENTOSUM, GROUP B, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ICHTHYOSIS, X-LINKED, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ?AGAMMAGLOBULINEMIA 5, LIPOYLTRANSFERASE 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION, MYOPATHY, CENTRONUCLEAR, 3, ?NEUTROPHILIA, HEREDITARY, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, TRIMETHYLAMINURIA, [BILIRUBIN, SERUM LEVEL OF, QTL1], MICROVILLUS INCLUSION DISEASE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ALKAPTONURIA, NEPHROTIC SYNDROME, TYPE 9, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, BENIGN FAMILIAL HEMATURIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, ATRANSFERRINEMIA, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI-BICKEL SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, PSEUDOHYPOALDOSTERONISM, TYPE IIE, FANCONI ANEMIA, COMPLEMENTATION GROUP F, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY, ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, HYPER-IGD SYNDROME, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG 6, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, MUCOPOLYSACCHARIDOSIS TYPE IIID, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), SELECTIVE T-CELL DEFECT, HARTNUP DISORDER, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, EPILEPSY, PYRIDOXINE-DEPENDENT, ALPORT SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, IMINOGLYCINURIA, DIGENIC, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, ALAGILLE SYNDROME 2, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EMBERGER SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, RETINITIS PIGMENTOSA 59, IMMUNODEFICIENCY 9, [URIC ACID CONCENTRATION, SERUM, QTL1], AMYLOIDOSIS, FINNISH TYPE, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, CREATINE PHOSPHOKINASE, ELEVATED SERUM, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, [PREMATURE CHROMATID SEPARATION TRAIT], LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GM2-GANGLIOSIDOSIS, AB VARIANT, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?WEBB-DATTANI SYNDROME, BIOTINIDASE DEFICIENCY, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, MODY, TYPE IV, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIG, DUCHENNE MUSCULAR DYSTROPHY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, UV-SENSITIVE SYNDROME 2, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS VII, EHLERS-DANLOS SYNDROME, TYPE VIIC, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), AGAMMAGLOBULINEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, XANTHINURIA, TYPE I, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, {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, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MCLEOD SYNDROME WITH OR WITHOUT CHRONIC GRANULOMATOUS DISEASE, GLYCOGEN STORAGE DISEASE IC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, D-GLYCERIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, 3-METHYLGLUTACONIC ACIDURIA, TYPE III, ?AL-GAZALI-BAKALINOVA SYNDROME, HEMOCHROMATOSIS TYPE 1, GLYCOGEN STORAGE DISEASE VI, DICARBOXYLIC AMINOACIDURIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, [GILBERT SYNDROME], COMBINED MALONIC AND METHYLMALONIC ACIDURIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPERPROLINEMIA, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MICROPHTHALMIA, ISOLATED 5, GLUCOCORTICOID DEFICIENCY 2, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, LEBER CONGENITAL AMAUROSIS 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2, GALACTOSEMIA, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MUCOLIPIDOSIS III ALPHA/BETA, NAIL-PATELLA SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, LIPOPROTEIN LIPASE DEFICIENCY, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, COWDEN SYNDROME 3, AGAMMAGLOBULINEMIA 4, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, ASPARTYLGLUCOSAMINURIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, SMITH-MAGENIS SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, MYOPATHY, DISTAL, TATEYAMA TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, LIDDLE SYNDROME, PLEUROPULMONARY BLASTOMA, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, DEMENTIA, FAMILIAL BRITISH, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, CPT DEFICIENCY, HEPATIC, TYPE II, KANZAKI DISEASE, FECHTNER SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3, SACCHAROPINURIA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, ALPHA-FETOPROTEIN DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME 3, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, HYPOURICEMIA, RENAL, 2, {URIC ACID CONCENTRATION, SERUM, QTL 2}, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, DANON DISEASE, MUCOLIPIDOSIS IV, THYROID DYSHORMONOGENESIS 5, METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT, IMMUNODEFICIENCY, COMMON VARIABLE, 4, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, DYSAUTONOMIA, FAMILIAL, HYPERLYSINEMIA, OSTEOLYSIS, FAMILIAL EXPANSILE, CITRULLINEMIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MACULAR CORNEAL DYSTROPHY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LIANG DISTAL MYOPATHY, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, LIVER FAILURE, TRANSIENT INFANTILE, COENZYME Q10 DEFICIENCY, PRIMARY, 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WHITE-SUTTON SYNDROME, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, IMMUNODEFICIENCY 24, ?DIARRHEA 7, FANCONI ANEMIA, COMPLEMENTATION GROUP G, CONE-ROD DYSTROPHY, X-LINKED, 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, ?INFANTILE LIVER FAILURE SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, [URIC ACID CONCENTRATION, SERUM, QTL4], {GOUT SUSCEPTIBILITY 4}, MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, IMMUNODEFICIENCY, COMMON VARIABLE, 3, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, BOUCHER-NEUHAUSER SYNDROME, DIHYDROPYRIMIDINURIA, COCKAYNE SYNDROME, TYPE A, GLUTAMINE DEFICIENCY, CONGENITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, HYPOMAGNESEMIA 4, RENAL, HYPERCHOLESTEROLEMIA, FAMILIAL, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 13, PANCREATIC AGENESIS 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, 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, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, ?PROGESTERONE RESISTANCE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, NEPHROLITHIASIS, TYPE I, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BARTTER SYNDROME, TYPE 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, LACTASE DEFICIENCY, CONGENITAL, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, PREGNANCY LOSS, RECURRENT, 4, SPERMATOGENIC FAILURE 4, CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA, MITCHELL-RILEY SYNDROME, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, FARBER LIPOGRANULOMATOSIS, SPHEROCYTOSIS, TYPE 4, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, SPHEROCYTOSIS, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, HYPOPHOSPHATASIA, INFANTILE, HYPERPROLINEMIA, TYPE I, FAMILIAL MEDITERRANEAN FEVER, AR, HEPATIC ADENOMA, SOMATIC, STORMORKEN SYNDROME, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MOLYBDENUM COFACTOR DEFICIENCY C, PIERSON SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, EHLERS-DANLOS SYNDROME, TYPE VI, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, SESAME SYNDROME, TYROSINEMIA, TYPE III, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, CHOREOACANTHOCYTOSIS, MYASTHENIC SYNDROME, CONGENITAL, 10, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER, IMMUNODEFICIENCY, COMMON VARIABLE, 7, ATAXIA-TELANGIECTASIA, MITOCHONDRIAL MYOPATHY WITH DIABETES, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OBESITY, ADRENAL INSUFFICIENCY, AND RED HAIR DUE TO POMC DEFICIENCY, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, THYROID DYSHORMONOGENESIS 2A, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, ALAND ISLAND EYE DISEASE, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, NEPHRONOPHTHISIS 2, INFANTILE, MUSCULAR DYSTROPHY, CONGENITAL, MYOPATHY, MYOFIBRILLAR, 4, IMMUNODEFICIENCY 43, SPHEROCYTOSIS, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, SOTOS SYNDROME 1, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, ALAGILLE SYNDROME, NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, [BLOOD GROUP, DUFFY SYSTEM], BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, PSEUDOHYPOALDOSTERONISM, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MYELOPEROXIDASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODEFICIENCY, ISOLATED, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ?LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3, ACHONDROGENESIS IB, FRAXE, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, ?GLYCOGEN STORAGE DISEASE XIII, MYOPATHY, TUBULAR AGGREGATE, 2, HARP SYNDROME, HYPOMAGNESEMIA 6, RENAL, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CEREBRAL AMYLOID ANGIOPATHY, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, CORTISONE REDUCTASE DEFICIENCY 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, IMMUNODEFICIENCY 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, [HISTIDINEMIA], MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IX, HYPEROXALURIA, PRIMARY, TYPE II, PROLIDASE DEFICIENCY, CARBOXYPEPTIDASE N DEFICIENCY, LEIOMYOMATOSIS AND RENAL CELL CANCER, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, COMBINED HYPERLIPIDEMIA, FAMILIAL, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, MODY, TYPE II, CRIGLER-NAJJAR SYNDROME, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CEREBROTENDINOUS XANTHOMATOSIS, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, ECTODERMAL, DYSPLASIA, ANHIDROTIC, LYMPHEDEMA AND IMMUNODEFICIENCY, FRUCTOSE INTOLERANCE, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, COMMON VARIABLE IMMUNODEFICIENCY 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, LACTASE PERSISTENCE/NONPERSISTENCE, NON-IMMUNE HYDROPS FETALIS, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, GLYCEROL KINASE DEFICIENCY, WELANDER DISTAL MYOPATHY, RETINITIS PIGMENTOSA 57, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, NEPHROTIC SYNDROME, TYPE 2, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, D-2-HYDROXYGLUTARIC ACIDURIA 2, RENAL TUBULAR ACIDOSIS, DISTAL, AR, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, SMITH-LEMLI-OPITZ SYNDROME, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, SALLA DISEASE, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, MOWAT-WILSON SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, NEU-LAXOVA SYNDROME 1, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, APPARENT MINERALOCORTICOID EXCESS, FIBROCHONDROGENESIS 1, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, PSORIASIS 14, PUSTULAR, DIABETES MELLITUS, INSULIN-DEPENDENT, 20, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, NIEMANN-PICK DISEASE TYPE C1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, HYPEROXALURIA, PRIMARY, TYPE III, TRYPSINOGEN DEFICIENCY, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, CONOTRUNCAL HEART MALFORMATIONS, VARIABLE, CONOTRUNCAL HEART MALFORMATIONS, PERSISTENT TRUNCUS ARTERIOSUS, DOUBLE-OUTLET RIGHT VENTRICLE, CONOTRUNCAL ANOMALY FACE SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY, HYPERPROINSULINEMIA, MUCOPOLYSACCHARIDOSIS, MPS-III-A, POROKERATOSIS 1, MULTIPLE TYPES, GLUTATHIONE SYNTHETASE DEFICIENCY, PENDRED'S SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 3, RAINE SYNDROME, ?MUCOPOLYSACCHARIDOSIS TYPE IX, MYOPATHY, MYOFIBRILLAR, 3, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, RETINITIS PIGMENTOSA 11, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOURICEMIA, RENAL, GITELMAN SYNDROME, LESCH-NYHAN SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ?WISKOTT-ALDRICH SYNDROME 2, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, DIABETES INSIPIDUS, NEPHROGENIC, RIBOFLAVIN DEFICIENCY, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, OLIGOSYNAPTIC INFERTILITY, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, HYPERCHLORHIDROSIS, ISOLATED, ESTROGEN RESISTANCE, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIH, GREENBERG SKELETAL DYSPLASIA, COPROPORPHYRIA, HARDEROPORPHYRIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, TYROSINEMIA, TYPE II, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, GLYCOGEN STORAGE DISEASE VII, HMG-COA LYASE DEFICIENCY, ?HYDROXYKYNURENINURIA, DIABETES MELLITUS, TRANSIENT NEONATAL 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, GRISCELLI SYNDROME, TYPE 2, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MUCOPOLYSACCHARIDOSIS IVA, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, HYPERCHYLOMICRONEMIA, LATE-ONSET, APOLIPOPROTEIN C-III DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, GRACILE SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, IMMUNODEFICIENCY 10, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 10, HEMOCHROMATOSIS, TYPE 3, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, ZINC DEFICIENCY, TRANSIENT NEONATAL, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, 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, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, LATHOSTEROLOSIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, DIARRHEA 6, WILSON DISEASE, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], BROWN-VIALETTO-VAN LAERE SYNDROME 2, WRINKLY SKIN SYNDROME, COCKAYNE SYNDROME, TYPE B, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), GALACTOSE EPIMERASE DEFICIENCY, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, LYMPHEDEMA, HEREDITARY, IA, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, 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, ANGIOEDEMA, HEREDITARY, TYPE III, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, TYROSINEMIA, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, LYMPHOPROLIFERATIVE SYNDROME 1, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT, DENT DISEASE, MYOPATHY, DISTAL, 4, EPSTEIN SYNDROME, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, NEPHRONOPHTHISIS 1, JUVENILE, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, EPISODIC ATAXIA/MYOKYMIA SYNDROME, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, RENAL GLUCOSURIA, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, FANCONI ANEMIA, COMPLEMENTATION GROUP J, FUCOSIDOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP I, CALCIUM OXALATE UROLITHIASIS, METHYLMALONYL-COA EPIMERASE DEFICIENCY, ACID-LABILE SUBUNIT, DEFICIENCY OF, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, GAUCHER DISEASE, PERINATAL LETHAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP E, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, OROTIC ACIDURIA, HARTSFIELD SYNDROME, MENKES DISEASE, WHITE SPONGE NEVUS 1, MEVALONIC ACIDURIA, SITOSTEROLEMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, INTRINSIC FACTOR DEFICIENCY, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, ENTEROKINASE DEFICIENCY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, CEREBROOCULOFACIOSKELETAL SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 2B, SPLENIC HYPOPLASIA, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, [BLOOD GROUP, RADIN], COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MIYOSHI MUSCULAR DYSTROPHY 3, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, BARTH SYNDROME, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, CYSTINURIA, TRANSCOBALAMIN II DEFICIENCY, TRICHOHEPATOENTERIC SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, BARDET-BIEDL SYNDROME 6, CEROID LIPOFUSCINOSIS, NEURONAL, 5, YUNIS-VARON SYNDROME, SHORT SYNDROME, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, BURN-MCKEOWN SYNDROME, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, CHYLOMICRON RETENTION DISEASE, PEROXISOME BIOGENESIS DISORDER 9B, HYPOPHOSPHATEMIC RICKETS, AR, PONTOCEREBELLAR HYPOPLASIA TYPE 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, HYPERLIPOPROTEINEMIA, TYPE IB, EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, HEME OXYGENASE-1 DEFICIENCY, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, BETHLEM MYOPATHY 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5, COMBINED SAP DEFICIENCY, HYPOALPHALIPOPROTEINEMIA, HDL DEFICIENCY, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, IMMUNODEFICIENCY 11, RETINITIS PIGMENTOSA 27, 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, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, DEAFNESS AND MYOPIA, CRANIOECTODERMAL DYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, WOLFRAM SYNDROME 2, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, NIJMEGEN BREAKAGE SYNDROME, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, OCULOECTODERMAL SYNDROME, MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, INFANTILE NEUROAXONAL DYSTROPHY 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, XERODERMA PIGMENTOSUM, GROUP C, GLYCOGEN STORAGE DISEASE IXC, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 3, ?DIAMOND-BLACKFAN ANEMIA 12, IMMUNODEFICIENCY 14, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, KAPPA LIGHT CHAIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, CARDIAC VALVULAR DYSPLASIA, X-LINKED, GLYCOGEN STORAGE DISEASE 0, LIVER, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, HELLP SYNDROME, MATERNAL, OF PREGNANCY, LCHAD DEFICIENCY, FATTY LIVER, ACUTE, OF PREGNANCY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, GAUCHER DISEASE, TYPE III, TRIFUNCTIONAL PROTEIN DEFICIENCY, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, VICI SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ATELEIOTIC DWARFISM, NETHERTON SYNDROME, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, MORBID OBESITY AND SPERMATOGENIC FAILURE, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, DUBIN-JOHNSON SYNDROME, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, PREMATURE OVARIAN FAILURE 1, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, HYPOMAGNESEMIA 1, INTESTINAL, GLOMUVENOUS MALFORMATIONS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, HYPERCHOLANEMIA, FAMILIAL, IMMUNODEFICIENCY, COMMON VARIABLE, 2, FISH-EYE DISEASE, 5-OXOPROLINASE DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, OSTEOGENESIS IMPERFECTA, TYPE XI, {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}, BLAU SYNDROME, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?N SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, AMYOTROPHIC LATERAL SCLEROSIS 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, CYSTATHIONINURIA, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, OPITZ-KAVEGGIA SYNDROME, HYPERCHOLESTEROLEMIA, FAMILIAL, 3, {LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 1}, SENGERS SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, DE SANCTIS-CACCHIONE SYNDROME, HYPERCALCEMIA, INFANTILE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, MCKUSICK-KAUFMAN SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, FAMILIAL MEDITERRANEAN FEVER, AD, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, MCARDLE DISEASE, MUCOLIPIDOSIS II ALPHA/BETA, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, GLYCOGEN STORAGE DISEASE IA, IMMUNOGLOBULIN A DEFICIENCY 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, BARTTER SYNDROME, TYPE 3, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, D-2-HYDROXYGLUTARIC ACIDURIA, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, OROFACIODIGITAL SYNDROME I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, LIPASE DEFICIENCY, COMBINED, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, HYPOPHOSPHATEMIC RICKETS, PARATHYROID CARCINOMA, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, PSEUDOHYPOALDOSTERONISM, TYPE 2, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, NEPHROTIC SYNDROME, TYPE 3, EPIDERMODYSPLASIA VERRUCIFORMIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, MICROCEPHALY, AMISH TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, GLYCOGEN STORAGE DISEASE XI, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, DIABETES INSIPIDUS, NEPHROGENIC, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, ?ACAT2 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46XY SEX REVERSAL, PARTIAL OR COMPLETE, HYPERLIPOPROTEINEMIA, TYPE 1D, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, NEPHROPATHY DUE TO CFHR5 DEFICIENCY, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IO, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, PAPILLORENAL SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, COENZYME Q10 DEFICIENCY, PRIMARY, 1, LYMPHEDEMA, HEREDITARY, ID, HYPERPARATHYROIDISM 1, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 6, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, MANNOSIDOSIS, BETA, ALSTROM SYNDROME, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, HYPOPHOSPHATASIA, CHILDHOOD, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, CORNELIA DE LANGE SYNDROME 1, LYSINURIC PROTEIN INTOLERANCE, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, DIGEORGE SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, {ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO}, CHONDRODYSPLASIA, BLOMSTRAND TYPE, GALLOWAY-MOWAT SYNDROME, ?IMMUNODEFICIENCY 37, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, BLOOM SYNDROME, GLUCOCORTICOID RESISTANCE, HPRT-RELATED GOUT, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, [SARCOSINEMIA], INTERSTITIAL LUNG AND LIVER DISEASE, MUCOLIPIDOSIS III GAMMA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, PELGER-HUET ANOMALY, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, GALLBLADDER DISEASE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION AND NEOPLASIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, FANCONI ANEMIA, COMPLEMENTATION GROUP N, MYOPATHY, TUBULAR AGGREGATE, 1, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, GLUTARIC ACIDURIA III, MUCKLE-WELLS SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 7, ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, KABUKI SYNDROME 2, PHELAN-MCDERMID SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, SCALP-EAR-NIPPLE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7, GALACTOKINASE DEFICIENCY WITH CATARACTS, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, [PENTOSURIA], ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, CEROID LIPOFUSCINOSIS, NEURONAL, 8, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, ONCOCYTOMA, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, SUCCINYL COA:3-OXOACID COA TRANSFERASE DEFICIENCY, LEBER OPTIC ATROPHY AND DYSTONIA, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), MODY, TYPE I, PEROXISOME BIOGENESIS DISORDER 3B, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, [GLYOXALASE II DEFICIENCY], DESMOSTEROLOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, HYPOBETALIPOPROTEINEMIA, {HODGKIN LYMPHOMA, SUSCEPTIBILITY TO}, SULFITE OXIDASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, METHEMOGLOBINEMIA, TYPE IV, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, LIPOID ADRENAL HYPERPLASIA, ENHANCED S-CONE SYNDROME, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HYPERFERRITINEMIA-CATARACT SYNDROME, PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, DIAPHANOSPONDYLODYSOSTOSIS, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, COWCHOCK SYNDROME, NEUTROPENIA, CYCLIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), LOWE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PSEUDOHYPOALDOSTERONISM, TYPE IID, MUCOPOLYSACCHARIDOSIS II, GLUCOSE/GALACTOSE MALABSORPTION, NEPHROTIC SYNDROME, TYPE 8, ?MAPLE SYRUP URINE DISEASE, MILD VARIANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CITRULLINEMIA, ADULT-ONSET TYPE II, [LACTATE DEHYDROGENASE-B DEFICIENCY], ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, BRUCK SYNDROME 2, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], OSTEOGENESIS IMPERFECTA, TYPE V, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA, MECKEL SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA 1, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, ARGININEMIA, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, 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, HYPERGLYCINURIA, TENORIO SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, NEPHRONOPHTHISIS 13, WOODHOUSE-SAKATI SYNDROME, HYPOMAGNESEMIA 2, RENAL, ETHYLMALONIC ENCEPHALOPATHY, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, CAFFEY DISEASE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, LIPOPROTEIN GLOMERULOPATHY, FUMARASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, HEMOCHROMATOSIS, TYPE 2A, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, GM1-GANGLIOSIDOSIS, TYPE I, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2, CRIGLER-NAJJAR SYNDROME, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, GLYCINE ENCEPHALOPATHY, GLYCOGEN STORAGE DISEASE II, NIEMANN-PICK DISEASE, TYPE C2, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, WHIM SYNDROME, GAPO SYNDROME, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, AGAMMAGLOBULINEMIA 2, ACHONDROGENESIS, TYPE IA, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?MYOSCLEROSIS, CONGENITAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, IMMUNODEFICIENCY 15, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MALONYL-COA DECARBOXYLASE DEFICIENCY, L-2-HYDROXYGLUTARIC ACIDURIA, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY, XERODERMA PIGMENTOSUM, TYPE 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, LYMPHEDEMA, HEREDITARY, IC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, HYPERPARATHYROIDISM, NEONATAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MYOPATHY, SPHEROID BODY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, PERRAULT SYNDROME 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, SPERMATOGENIC FAILURE, X-LINKED, 2, MITOCHRONDRIAL MIOPATHY, LETHAL, INFANTILE; LIMM, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, RIDDLE SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIB, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, HYPERTHYROIDISM, NONAUTOIMMUNE, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, FANCONI ANEMIA, COMPLEMENTATION GROUP L, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, ALOPECIA UNIVERSALIS, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, COLD-INDUCED SWEATING SYNDROME 1, AGAMMAGLOBULINEMIA 6, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, GLYCOGEN STORAGE DISEASE X, ABETALIPOPROTEINEMIA, MYOPATHY, MYOFIBRILLAR, 6, ANGIOEDEMA, HEREDITARY, TYPES I AND II, ?RETINITIS PIGMENTOSA 9, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, KENNY-CAFFEY SYNDROME, TYPE 2, MYOPATHY DUE TO CPT II DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, INTERSTITIAL NEPHRITIS, KARYOMEGALIC, ISOVALERIC ACIDEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DIAMOND-BLACKFAN ANEMIA 1, WOLCOTT-RALLISON SYNDROME, MONILETHRIX, ?MONILETHRIX, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, PEELING SKIN SYNDROME 1, CPT II DEFICIENCY, LETHAL NEONATAL, PROPERDIN DEFICIENCY, X-LINKED, PEPCK DEFICIENCY, MITOCHONDRIAL, PERRY SYNDROME, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 2, MYOGLOBINURIA, RECURRENT, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, CEROID LIPOFUSCINOSIS, NEURONAL, 2, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, PAGET DISEASE OF BONE 3, GLUCOCORTICOID DEFICIENCY 4, GM1-GANGLIOSIDOSIS, TYPE III, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, [ACETYLATION, SLOW], ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9, UV-SENSITIVE SYNDROME 3, ?MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3, MODY, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, WISKOTT-ALDRICH SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CRYOHYDROCYTOSIS, HAWKINSINURIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 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, BERGER DISEASE, ALPHA-METHYLACETOACETIC ACIDURIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NORUM DISEASE, NEPHROTIC SYNDROME, TYPE 6, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, DENT DISEASE 2, VAN BUCHEM DISEASE, HEMOCHROMATOSIS, TYPE 2B, NONAKA MYOPATHY



It has 1331 associated genes.

Show genes

Associated genes: CA2, GLMN, APOE, PLCE1, ADAMTS13, GNAI2, SQSTM1, CYB5A, CLN3, CDK5, APOC3, UCP1, BCKDHB, ACADS, POMC, LBR, C3AR1, CUL3, CIITA, GLI3, BMPR1A, PTPN22, CR2, ATP6V1B1, DPM1, FTL, SUOX, GUSB, LYRM7, ENPP1, DBT, ARSB, ETHE1, BBS5, HBB, VMA21, CASP10, AICDA, BPGM, NSDHL, WDR73, GLYCTK, B2M, SLC17A5, AKT2, PTPN14, KIF7, ITGA3, TERT, SLC6A8, MT-TE, PLAGL1, AGK, DOK7, TTN, EDN3, POMGNT1, LDHB, WNK1, MS4A1, KIF1A, DYSF, HTR1A, RPS19, POR, GYS2, CAT, OCRL, PIGW, CYP7B1, SPTB, SLC16A12, LIPT1, ALDH6A1, MAFB, GAS1, TRMT5, GCSH, SLC6A19, IL21R, HYAL1, PTEN, SUGCT, MYOT, VLDLR, ATRX, SCN4A, GALC, GH1, TRPC6, NFKB2, APOA1, COPA, NDUFAF3, ANLN, PHKA2, XPC, COL6A2, ENO3, CD79A, GNAS, RNF216, NDUFS6, ALDH7A1, POLG2, TMPRSS15, PGM1, SPINT2, DAG1, FSHB, BUB1B, BBS9, CAMTA1, SYNE1, NOD2, BLK, PPT1, PTH, MGAT2, BTD, AGRP, PIK3CD, FANCB, ALAD, NR0B1, HBA2, FASTKD2, AIFM1, NRL, CBL, DNA2, KCNJ1, TPP1, FKRP, SLC30A8, ANK1, SUCLA2, SHANK3, MFRP, MAT1A, VPS33B, SGSH, VEGFC, UBR1, APOC2, STEAP3, CLN5, MT-CYB, ABCD4, NDUFA1, RYR1, NT5C3A, ALAS2, MS4A2, CYP21A2, PSAP, ADRB3, FXYD2, KMT2A, VKORC1, ATP5E, NDUFS7, FOXRED1, PMM2, MT-CO1, HAVCR1, CHST6, CAV3, MGME1, TCIRG1, FANCE, OAT, HFE2, CTNNB1, IL2RA, TAT, HNF1B, SMAD4, BCS1L, CYP11B1, SCNN1B, DIS3L2, SLC4A1, CEP290, TPK1, NDUFAF2, GOSR2, CD40LG, IL36RN, ITIH4, SLC2A1, IARS2, HPRT1, MED12, STAC3, CFB, NARS2, ALG3, GLDC, CISD2, CHRNA1, PRF1, DBH, CCDC28B, BBS7, RFXAP, FZD6, MMACHC, CPT2, IFT172, AIP, FOXI1, TRAPPC11, RAD50, LHB, SLC5A1, NPHS1, CETP, PLA2G7, HAL, ABCB4, HFE, TRMU, LPL, COX15, PRICKLE2, BBS1, SFTPA2, ACAT2, KIF11, CDH1, PTPRO, CTNS, B4GAT1, SLC29A3, PDE6G, ARL6, GNE, CUBN, PEX5, TSFM, BGLAP, CD59, HAMP, CRYAB, STS, CFP, DNM1L, KDM6A, COQ4, RBCK1, GJC2, PDE4D, ADK, TRPV4, POLA1, HMBS, KNG1, ZFPM2, MOGS, GIF, PCBD1, TRIP11, HINT1, PIGC, VPS13A, PYGL, CD46, OSMR, CPN1, PIGA, GALK1, NPHP1, PDHB, PTPN11, CXCR4, NDUFA9, B4GALT1, CP, SPINK1, SLC6A20, HPD, BCL10, HADHB, ASL, GPHN, ERMAP, IER3IP1, NLRP5, D2HGDH, SRD5A2, RFXANK, COL6A1, TMC8, RANBP2, MT-TF, PEX12, FKTN, CTSA, BRAF, DCXR, HNRNPA2B1, EDARADD, PHF11, JAK3, ZMPSTE24, SNRPN, RAB40AL, HLA-DQB1, CLCNKB, FH, CCDC170, RNF113A, SLC22A12, MEF2A, MLYCD, RRM2B, GHRL, FANCL, LRP2, CDSN, MYH9, DGAT1, TF, PDX1, TCAP, DST, KRT14, FBP1, NR3C1, TSC1, TTC21B, APOA5, PAX4, GM2A, CA5A, RPL15, INSR, SGCA, ERCC4, SURF1, CCBE1, WFS1, B3GALNT2, GPI, ARMC5, GNPTAB, CYBA, TREX1, FARS2, APOB, COQ9, TNFRSF13B, ABCC2, PLEKHG5, LZTFL1, MT-CO2, ACTB, STAT1, STIM1, SEMA3E, MOCS2, G6PC, RAI1, DGUOK, CHCHD10, KLHL3, SFTPA1, CFHR5, PCCB, PDSS1, SSR4, CCT5, NLRC4, PNPO, ECHS1, CTPS1, KCNJ11, MCCC2, NDUFB3, IDUA, SPR, FGA, MYH7, ACADM, NDUFS4, HADH, KCNA1, SLC26A4, SLC25A1, SYCP3, EDAR, COL4A5, IKBKAP, PTRF, BAG3, CPT1A, PROK2, BLNK, MAP2K1, RFT1, MT-CO3, NBN, PCCA, GALNS, FLNC, SLC30A2, DHS6S1, CDC73, LIAS, DLD, IRS1, MYH3, CAPN3, ESCO2, CYC1, CD79B, NR2E3, UQCRB, CLCN7, IL2RG, MT-ND3, CD81, GLRX5, GPX1, FIG4, HAGH, DDC, TNNT2, SLC26A2, PRPF31, PGAM2, CLCNKA, CDKAL1, XPA, MPI, ALG6, SLC34A3, FAN1, PKLR, WNK4, IDH2, SLC19A3, COL4A3, NAGA, ATN1, MCEE, CBS, ITGB4, HLA-DRB1, AMACR, HGD, TMC6, AVP, POLG, SCARB2, MYBPC3, RPS29, POC1A, SP110, GTPBP3, EHHADH, ESR1, GK, EARS2, PSEN1, THSD1, ABCC9, MYOM1, CIDEC, MRPS16, RHAG, LRP5, NRAS, LIPC, LCAT, SLC25A3, MEN1, FGFR3, CD27, CACNA1A, ETFDH, PPP1R17, PKHD1, L2HGDH, WDPCP, MCPH1, SI, XDH, BCO1, RB1, FGF23, VIPAS39, BOLA3, BDNF, AFF2, LIPI, ARNT2, FANCI, SLC26A3, AKR1D1, LRPPRC, NDUFS3, CLN6, PIGR, AMN, NCF1, KCNJ5, BBS12, PIGV, ALPL, GNPTG, MYO5B, ITGA8, GCM2, MMAB, AMT, MT-TL1, ALG1, COL4A4, OPCML, FLT4, SMAD9, TCN2, GHR, G6PD, CYP27B1, SC5D, TXNL4A, GMPPB, TAZ, AASS, TYK2, UGT1A4, AARS2, TMEM70, CTRC, SLC52A2, CFH, BMP2, KLHDC8B, HRAS, HMGCL, GLUL, NDN, FOXP3, TNFRSF11B, DMGDH, KL, DHTKD1, PCSK1, KHK, FGFR1, ASCL1, HSD11B2, NAGLU, FLVCR2, MUT, ERBB3, ETFA, FAM111B, TNFRSF11A, LIPA, COG4, CLDN16, IKBKB, ADCK3, SCNN1G, SLC52A1, DYRK1B, LHX4, NME1, PDSS2, LMNB2, NIPBL, CD320, RBM8A, LDLRAP1, SARS2, KCTD7, WDR19, OSTM1, PRSS1, MT-TT, BCKDK, GCLC, ANTXR1, UNC13D, GALE, ITGA6, PPARGC1B, KIT, MYH6, IVD, AIRE, POLD1, OTC, VDR, PEX1, MYO1E, AR, PTS, UQCC2, VPS45, SETX, GAA, MTFMT, MKS1, TPMT, PDHX, OXCT1, LIG4, GTF2H5, RMND1, TEX15, UBA1, TGFB1, MRPS22, SOST, ACAT1, TSHR, TEX11, RRAS2, VCP, EIF2AK3, OFD1, DCAF17, CARS2, NDUFA12, APPL1, PEX7, ZBTB24, PARK2, RFX5, HADHA, NOS3, PLG, LCT, SLC12A3, ADCK4, PMVK, CYP2A6, NDUFA2, SERAC1, MT-TQ, ACTN4, MECP2, IL6, PIK3R1, ITM2B, APTX, SLC5A2, PCSK9, HCFC1, TTPA, PIEZO1, DUOXA2, AGA, SDHAF1, CTLA4, ISPD, SLC3A1, NAT2, PEX16, GDNF, AP2S1, TIA1, TYMP, APOPT1, ADA, SLC36A2, LDHA, GPD2, SLC25A20, HSPG2, TPO, FCGR2A, NDUFS2, C10orf2, OPLAH, GPD1, SYNE2, GATA2, GCGR, DICER1, STAR, DHCR24, SLC34A1, FECH, PHEX, ASAH1, MYH14, UGT1A1, ADRB2, WISP3, CARTPT, LARGE1, MT-ATP6, MT-ND6, IFIH1, FAS, FUCA1, CYP27A1, IKBKG, MAPK8IP1, HEXB, HMGA1, MUC1, CYP11B2, CAV1, CTH, AGT, IGKC, MCM6, HEXA, MTHFR, AK2, PPP1R3A, BSND, WDR35, ALG11, PCK2, TSPYL1, ZEB2, LRRC8A, NADK2, NEB, MANBA, STK11, UCP3, BBIP1, LIPE, IGHM, NDRG1, SLC37A4, PDP1, LMBRD1, NLRP3, KRT8, SIM1, LAMB2, DMP1, FANCM, NFKBIA, COX8A, PIK3CA, GFM1, NPC1, SLC25A38, BMPER, WAS, JAG1, HNRNPA1, GFPT1, MTO1, FMO3, ACAD8, GPIHBP1, HK1, PRKAG2, COL2A1, DDB2, LDLR, CTSD, HOGA1, LDB3, NUBPL, PCNT, ACTA1, ARG1, MTNR1B, RIN2, FANCF, PLEC, UROC1, TRPM6, IL31RA, NDUFAF6, ATP8B1, NAGS, FAM134B, ABCB11, CLCN5, SLC25A15, PSMB8, SLC39A4, F9, KCNJ18, CLUAP1, NEUROD1, GUCY2D, DCLRE1C, CCND1, MYF6, BLM, CAD, SFTPB, IL21, ERCC6, CLDN19, SCNN1A, EDA, CEL, ATP1A2, LMNA, COL1A2, NNT, KRT1, GALT, ABCA1, POGZ, PLOD1, ABCC6, NDUFAF4, LYZ, IGFALS, ATP6V0A4, CRLF1, CACNA1F, ACAD9, PNPLA8, HSD17B3, SDC3, MPC1, GLIS3, SERPING1, CD44, MKKS, C3, ERCC5, ANGPTL3, DPYD, ADAMTS2, UQCRQ, RAB27A, TSHB, CHKB, ABCB7, SLC7A7, CASQ1, IDS, SLC25A13, CYP2D6, PANK2, TFG, ERCC8, NDUFV1, HAO1, INS, LAMP2, ABCC8, BSCL2, ICR1, COL7A1, NDUFS8, COA6, EMD, PFKM, UBN1, PPARG, SMPD1, KCNN4, GLE1, OAS1, ACSF3, SDHD, SLC22A5, SLC25A19, PRKCSH, COG1, PAX2, LMX1B, TJP2, YAP1, SLITRK6, SIL1, COG5, INF2, VHL, FANCD2, COL4A1, SMARCAL1, TNFRSF1A, PPOX, HIBCH, FN1, CNNM2, INVS, ITPR2, COX20, TMEM173, FHL1, HSD17B10, FOXC2, SLC11A2, KLF1, KIAA0586, ACKR1, KCTD1, ATP5A1, PC, MCOLN1, DCTN1, PPP2R5D, RPSA, DNAJB6, HNRNPDL, GRHPR, COX6B1, TMEM165, MCCC1, HNF1A, PTPN1, ABCG2, H19, PROP1, AQP2, ALMS1, MTTP, GSN, IRS2, THBD, EPG5, CFTR, TK2, CHRND, STAT3, ATPAF2, SH2D1A, FAH, F12, GBE1, ALDH4A1, SLC7A9, SDHA, IGF2BP2, FBXL4, AMELX, TTC8, IL4R, CHEK2, DHCR7, BAAT, COX14, MT-ND4, HBA1, GALNT3, FAT4, PHKG2, KCNJ10, SLC2A9, NDUFA10, SLCO1B3, ATP7A, TAF6, COL11A1, NTRK1, AFP, DMD, UPK3A, PNPLA6, NEK1, TMEM127, PEPD, YARS2, ABCG8, PGAP3, LRBA, GATM, SLC33A1, PNPLA2, TBX1, C12orf65, WIPF1, GBA, IBA57, CA12, SLC2A4, FTH1, SERPINA6, CACNA1S, LAMTOR2, SGCB, APP, TARS2, XK, PTH1R, MOCS1, MT-TS2, LAMA2, HCCS, TSEN54, ACTN2, MTR, NDUFAF5, CEP19, PGAP2, AGPAT2, DLAT, ZAP70, SARDH, MPLKIP, GSS, CYBB, SLC12A1, TINF2, CYP17A1, TUFM, ALG13, ETFB, XIAP, ISCU, DSG1, BRCA2, TRNT1, HLCS, PRPF8, FAM20C, COL1A1, DNAJC19, CNBP, CHRNG, TBCE, SRD5A3, SLC17A3, PIGT, DNM2, ZFP57, GUCY2C, EBP, CD2AP, ADCY10, STK10, RNASEH1, MPO, SLCO1B1, MUC5B, TFR2, CAPN10, PALB2, FAM111A, AGL, BBS4, PRKAR1A, COG6, PHYH, ALB, ELAC2, PGK1, GNMT, BTK, MMADHC, COL6A3, MAN2B1, MT-TK, TNPO3, SLC2A2, MRAP, MT-ND1, MYL3, CASP8, FANCA, SEPT9, IGLL1, MPV17, PLA2G6, ALG2, TRIM32, NEUROG3, LMF1, SIX3, MEFV, ERCC2, COQ6, UNG, RNF168, RFX6, ABCD1, PIGO, CD40, GFER, AUH, ARHGDIA, OPA3, ATIC, NDUFB9, HLA-DQA1, COL9A3, DNMT3B, ATP6V0A2, MATR3, USP8, CYP2R1, ALDOB, PRSS2, APOA2, DGKE, CECR1, KRAS, NLRP12, TNFRSF13C, ZNF592, NKX2-5, PET100, DNAJC5, POMK, WRN, NOTCH2, KRT4, CDAN1, CST3, HSD11B1, CPOX, MT-TD, UQCC3, LPIN1, CACNA1D, SUCLG1, EPHX1, UMPS, NPHS2, NEU1, SDHB, TRMT10A, PGR, NHLRC1, XRCC4, AGXT, ALDH2, MARS, BCKDHA, SCO1, DHDDS, KRT18, CLN8, MRPL44, FASLG, ASS1, NSUN2, CSRP3, FANCG, AVPR2, FMR1, FANCC, NCF2, SLC35C1, PSEN2, EPHX2, SOX18, GCDH, MAX, NR3C2, PPM1K, POMT2, SLC19A2, GNS, IGF1, ABCG5, PLOD2, ITK, ACADVL, CYP24A1, KRT83, GLUD1, EPM2A, NFU1, LRP6, UVSSA, PCK1, PAX8, PLIN1, LARS, KRT86, TTR, RET, NDUFA11, GNA11, REN, CFHR3, DPM2, FTCD, STX11, AHSG, HNF4A, KYNU, PRPS1, BBS2, SFXN4, DNAH14, COL8A2, KCNQ1OT1, PRODH, MVK, MC2R, ALDH5A1, CHD7, CASR, GCK, SLC4A4, KIF1B, PYGM, DPM3, GNAS-AS1, BBS10, IFITM5, IFT122, IL1RN, KRT81, ICOS, ELANE, NDUFS1, MRPL3, BRCA1, CARD11, CFI, SPINK5, UQCRC2, SEC63, DOLK, PHOX2B, COG8, SLC25A4, STXBP2, MAP2K2, CYP2C9, SLC1A1, RAG1, RARS2, TP53, RPIA, AKT1, PSAT1, GATA6, PHKA1, CDKN1C, ATP7B, DNAJC3, OGDH, RAG2, ITPR3, SERPINA1, NPC2, DDOST, INPPL1, HGSNAT, LYRM4, PAH, SUMF1, SLC9A3R1, ORAI1, SCO2, MT-TS1, CSF3R, NDUFAF1, FLNA, PUS1, STX16, NGF, MCM9, MAGT1, COQ2, HR, SEC23B, RETN, DPYS, PEX2, CYP11A1, FKBP10, PRNP, POMT1, PDHA1, ANO5, ATM, MC4R, GLB1, ACADSB, QDPR, NSD1, NFKB1, C19orf12, PRKACA, FXN, CD19, STAP1, TCF7L2, MYLK2, NDUFV2, CPS1, RPGR, PLCG2, KLF11, SLC16A1, UMOD, BRIP1, LIFR, SGCG, GLA, GCH1, XPNPEP2, RTEL1, MT-ND5, TACO1, DPAGT1, GDF1, ERCC3, PEX19, GALNT14, PNP, NKX2-6, KRT9, MT-TH, HMOX1, ITGA7, TTC37, RNF125, CFHR1, SAR1B, NR0B2, PHGDH, MTHFD1, MMAA, SELP, AHCY, MYD88, SHH, HSD3B7, MTRR, COX10, TERC, RP9, EGF



GO terms for Biological Process
--> -->
 
 
<type 'exceptions.TypeError'>
Python 2.7.9: /usr/bin/python
Mon Jun 8 22:18:17 2020

A problem occurred in a Python script. Here is the sequence of function calls leading up to the error, in the order they occurred.

 /usr/lib/cgi-bin/phenpath/class_page_mkstatic.py in ()
    307         print '<p> This is a cluster of phenotypes following the categories of HPO </p>'
    308         initial_description(cla,HPOid2mim,HPOid2gene)
=>  309         myGO_BP,myGO_MF,myGO_CC=main_program(cla,name,HPOid2gene[cla],HPOid2mim[cla],True)
    310         create_metadata(cla,name,HPOid2gene[cla],HPOid2mim[cla],myGO_BP,myGO_MF,myGO_CC)
    311     elif cla=="HP:0000001":
myGO_BP = set([]), myGO_MF = set([]), myGO_CC = set([]), main_program = <function main_program>, cla = 'HP:0001939', name = 'ABNORMALITY_OF_METABOLISM/HOMEOSTASIS', HPOid2gene = {'HP:0000001': set(['A2M', 'A4GALT', 'AAAS', 'AAGAB', 'AARS', 'AARS2', ...]), 'HP:0000002': set(['AAAS', 'AARS', 'AASS', 'ABAT', 'ABCB11', 'ACAN', ...]), 'HP:0000003': set(['AMER1', 'B9D1', 'KAT6B', 'MBTPS2', 'OFD1', 'PAX2', ...]), 'HP:0000005': set(['A2M', 'A4GALT', 'AAAS', 'AAGAB', 'AARS', 'AARS2', ...]), 'HP:0000006': set(['A2M', 'A4GALT', 'AAGAB', 'AARS', 'ABCA1', 'ABCA4', ...]), 'HP:0000007': set(['AAAS', 'AARS', 'AARS2', 'AASS', 'ABAT', 'ABCA1', ...]), 'HP:0000008': set(['AARS2', 'AGPAT2', 'AIP', 'AIRE', 'AKT1', 'APC', ...]), 'HP:0000009': set(['ABCD1', 'ACTG2', 'ADH1C', 'AFF4', 'ALDH18A1', 'ALS2', ...]), 'HP:0000010': set(['BTK', 'CFI', 'CIITA', 'CLDN16', 'CLDN19', 'FLVCR1', ...]), 'HP:0000011': set(['ARNT2', 'GBE1', 'GJA1', 'MNX1', 'VANGL1', 'WFS1']), ...}, HPOid2mim = {'HP:0000001': set(['100070', '100100', '100300', '100800', '101000', '101200', ...]), 'HP:0000002': set(['100800', '101400', '101800', '102370', '102500', '103580', ...]), 'HP:0000003': set(['107480', '120330', '143400', '300209', '300373', '308205', ...]), 'HP:0000005': set(['100100', '100300', '100800', '101000', '101200', '101400', ...]), 'HP:0000006': set(['100300', '100800', '101000', '101200', '101400', '101600', ...]), 'HP:0000007': set(['100100', '100300', '102530', '102700', '103050', '105400', ...]), 'HP:0000008': set(['101200', '107480', '109400', '110100', '114500', '119500', ...]), 'HP:0000009': set(['105210', '107480', '109150', '113650', '118450', '120330', ...]), 'HP:0000010': set(['176450', '209920', '220100', '236730', '248190', '248250', ...]), 'HP:0000011': set(['164200', '176450', '222300', '263570', '600145', '615926']), ...}, builtin True = True
 /usr/lib/cgi-bin/phenpath/class_page_mkstatic.py in main_program(cla='HP:0001939', name='ABNORMALITY_OF_METABOLISM/HOMEOSTASIS', gene_set=set(['AARS2', 'AASS', 'ABCA1', 'ABCB11', 'ABCB4', 'ABCB7', ...]), mim_set=set(['101800', '102700', '103580', '104200', '105120', '105150', ...]), HPO=True)
    190         else:
    191             myresult=main_table_printer(cla,name,"allclass2BP_NETGE",gene_set,"GOBP",mim_set,gene2mim_mapped,gene2chrom,root_GOBP_set)
=>  192             summary_shared_other_pages("GO terms for Biological Process",myresult,cla,"GOBP",name)
    193             myresult=main_table_printer(cla,name,"allclass2MF_NETGE",gene_set,"GOMF",mim_set,gene2mim_mapped,gene2chrom,root_GOMF_set)
    194             summary_shared_other_pages("GO terms for Molecular Function",myresult,cla,"GOMF",name)
global summary_shared_other_pages = <function summary_shared_other_pages>, myresult = ('<table id=allclass2BP_NETGE class="display"> <th...ene=GCGR">GCGR</a></p></td></tr></tbody> </table>', set(['GO:0000041', 'GO:0000096', 'GO:0000165', 'GO:0000187', 'GO:0000272', 'GO:0000302', ...])), cla = 'HP:0001939', name = 'ABNORMALITY_OF_METABOLISM/HOMEOSTASIS'
 /usr/lib/cgi-bin/phenpath/class_page_mkstatic.py in summary_shared_other_pages(titlename='GO terms for Biological Process', content=('<table id=allclass2BP_NETGE class="display"> <th...ene=GCGR">GCGR</a></p></td></tr></tbody> </table>', set(['GO:0000041', 'GO:0000096', 'GO:0000165', 'GO:0000187', 'GO:0000272', 'GO:0000302', ...])), phen='HP:0001939', onto_name='GOBP', cla_name='ABNORMALITY_OF_METABOLISM/HOMEOSTASIS')
    110         myfile.write("<h1>"+ " ".join(cla_name.split("_")) +"</h1>")             
    111 
=>  112         myfile.write(content)   
    113         myfile.write('</body><footer><p>Contact information: giulia.babbi3@unibo.it <a style="float:right"> <!-- Release 12-05-2017 --> </a></p></footer></html>')
    114 
myfile = <open file '/var/www/phenpath/class_static/HP:0001939_GOBP_static.html', mode 'w'>, myfile.write = <built-in method write of file object>, content = ('<table id=allclass2BP_NETGE class="display"> <th...ene=GCGR">GCGR</a></p></td></tr></tbody> </table>', set(['GO:0000041', 'GO:0000096', 'GO:0000165', 'GO:0000187', 'GO:0000272', 'GO:0000302', ...]))

<type 'exceptions.TypeError'>: expected a character buffer object
      args = ('expected a character buffer object',)
      message = 'expected a character buffer object'