LABORATORY ABNORMALITIES

Associated diseases: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5B, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, {THIOPURINES, POOR METABOLISM OF, 1}, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, ALOPECIA UNIVERSALIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, FACTOR V DEFICIENCY, CEROID LIPOFUSCINOSIS NEURONAL 6, HEMOCHROMATOSIS, TYPE 2B, DYSAUTONOMIA, FAMILIAL, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, KOWARSKI SYNDROME, MEDULLARY CYSTIC KIDNEY DISEASE 1, GLUCOCORTICOID DEFICIENCY 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA, LARON DWARFISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, ALPHA-2-MACROGLOBULIN DEFICIENCY, RUIJS-AALFS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, PEPCK DEFICIENCY, MITOCHONDRIAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, HYPERCHLORHIDROSIS, ISOLATED, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, MICROVILLUS INCLUSION DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, CK SYNDROME, FLOATING-HARBOR SYNDROME, IRON-REFRACTORY IRON DEFICIENCY ANEMIA, BURKITT LYMPHOMA, MUCOPOLYSACCHARIDOSIS TYPE IIID, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, NESTOR-GUILLERMO PROGERIA SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, HYPER-IGD SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, MITOCHRONDRIAL MIOPATHY, LETHAL, INFANTILE; LIMM, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, UV-SENSITIVE SYNDROME 2, MUCOPOLYSACCHARIDOSIS VII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MODY, TYPE III, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MENTAL RETARDATION, X-LINKED 63, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, HEMOCHROMATOSIS TYPE 1, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, MYOPATHY, CENTRONUCLEAR, 3, TUBEROUS SCLEROSIS-1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, LEBER CONGENITAL AMAUROSIS 1, MALONYL-COA DECARBOXYLASE DEFICIENCY, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, HMG-COA SYNTHASE-2 DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, LIDDLE SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, THRYOID DYSHORMONOGENESIS 6, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, XERODERMA PIGMENTOSUM, GROUP B, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY, BARTH SYNDROME, CILIARY DYSKINESIA, PRIMARY, 25, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, DONNAI-BARROW SYNDROME, COMBINED FACTOR V AND VIII DEFICIENCY, MITCHELL-RILEY SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, STORMORKEN SYNDROME, PROPIONICACIDEMIA, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ACUTE MYELOID LEUKEMIA, M6 TYPE, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, ALAND ISLAND EYE DISEASE, PERIODIC FEVER, FAMILIAL, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, DYSKERATOSIS CONGENITA, X-LINKED, OCCIPITAL HORN SYNDROME, HEMOPHILIA A, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP O, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, PSEUDOHYPOALDOSTERONISM, TYPE I, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 6}, ACETYL-COA CARBOXYLASE DEFICIENCY, AMYLOIDOSIS, FINNISH TYPE, HARP SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, SEGAWA SYNDROME, RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, PROLIDASE DEFICIENCY, CARBOXYPEPTIDASE N DEFICIENCY, LEIOMYOMATOSIS AND RENAL CELL CANCER, CRIGLER-NAJJAR SYNDROME, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, {MELANOMA, CUTANEOUS MALIGNANT, 2}, LACTASE PERSISTENCE/NONPERSISTENCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, DOOR SYNDROME, KRABBE DISEASE, ATYPICAL, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, ?N SYNDROME, [URIC ACID CONCENTRATION, SERUM, QTL4], {GOUT SUSCEPTIBILITY 4}, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 3, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, LESCH-NYHAN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, OLIGOSYNAPTIC INFERTILITY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ERYTHROCYTOSIS, FAMILIAL, 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, FACTOR XIIIA DEFICIENCY, CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, ISOVALERIC ACIDEMIA, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, SJOGREN-LARSSON SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SPHEROCYTOSIS, TYPE 4, DIARRHEA 6, WILSON DISEASE, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CEROID LIPOFUSCINOSIS, NEURONAL, 1, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, SC PHOCOMELIA SYNDROME, {HASHIMOTO THYROIDITIS}, BETA-UREIDOPROPIONASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP T, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, FUCOSIDOSIS, NEPHRONOPHTHISIS 2, INFANTILE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, OROTIC ACIDURIA, HARTSFIELD SYNDROME, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, CEREBROOCULOFACIOSKELETAL SYNDROME 3, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, GREENBERG SKELETAL DYSPLASIA, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, CENTRONUCLEAR MYOPATHY 5, YUNIS-VARON SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, HYPERLIPOPROTEINEMIA, TYPE IB, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, GERODERMA OSTEODYSPLASTICUM, COMBINED SAP DEFICIENCY, FACTOR VII DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, PAPILLORENAL SYNDROME, NEPHRONOPHTHISIS 3, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, ETHYLMALONIC ENCEPHALOPATHY, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, TRIFUNCTIONAL PROTEIN DEFICIENCY, SMALL CELL CANCER OF THE LUNG, SOMATIC, HEMOPHILIA B, IMMUNODEFICIENCY, COMMON VARIABLE, 7, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, MUCOPOLYSACCHARIDOSIS IH/S, TANGIER DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, COENZYME Q10 DEFICIENCY, PRIMARY, 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, COPROPORPHYRIA, HARDEROPORPHYRIA, SENGERS SYNDROME, COLORBLINDNESS, TRITAN, AGAMMAGLOBULINEMIA 4, ALPHA-FETOPROTEIN DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, ?CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 3, HYPERPROLINEMIA, TYPE I, AICARDI-GOUTIERES SYNDROME 5, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, PSEUDOHYPOALDOSTERONISM, TYPE IIE, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, BONE MARROW FAILURE SYNDROME 2, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, HYPERLIPOPROTEINEMIA, TYPE 1D, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MULTIPLE SULFATASE DEFICIENCY, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), HEPATIC LIPASE DEFICIENCY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, GALLOWAY-MOWAT SYNDROME, GLUCOCORTICOID RESISTANCE, VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), SENIOR-LOKEN SYNDROME 8, GLUTARIC ACIDURIA III, [EOSINOPHIL PEROXIDASE DEFICIENCY], OSTEOGENESIS IMPERFECTA, TYPE VIII, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, ONCOCYTOMA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, [GLYOXALASE II DEFICIENCY], HYPOBETALIPOPROTEINEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, COENZYME Q10 DEFICIENCY, PRIMARY, 2, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, PSEUDOHYPOALDOSTERONISM, TYPE IID, MUCOPOLYSACCHARIDOSIS II, GLUCOSE/GALACTOSE MALABSORPTION, NEPHROTIC SYNDROME, TYPE 8, HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2, CITRULLINEMIA, ADULT-ONSET TYPE II, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XI, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, UV-SENSITIVE SYNDROME 1, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, HEREDITARY PYROPOIKILOCYTOSIS, BARTTER SYNDROME, TYPE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, FUMARASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ?MYOSCLEROSIS, CONGENITAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {APLASTIC ANEMIA}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, PSEUDOHYPOALDOSTERONISM, TYPE IIB, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, POIKILODERMA WITH NEUTROPENIA, GALACTOSEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP L, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ANDROGEN INSENSITIVITY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, AGAMMAGLOBULINEMIA 1, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GAUCHER DISEASE, TYPE II, HETEROTAXY, VISCERAL, 6, AUTOSOMAL RECESSIVE, UV-SENSITIVE SYNDROME 3, XANTHINURIA, TYPE I, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, ATAXIA-OCULOMOTOR APRAXIA 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, DENT DISEASE 2, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, BARTTER SYNDROME, TYPE 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, DIAMOND-BLACKFAN ANEMIA 4, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, CILIARY DYSKINESIA, PRIMARY, 30, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, GLUTARICACIDURIA, TYPE I, ACRODERMATITIS ENTEROPATHICA, SPECIFIC GRANULE DEFICIENCY, DANON DISEASE, VAN BUCHEM DISEASE, HPRT-RELATED GOUT, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, CEROID LIPOFUSCINOSIS, NEURONAL, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, DEMENTIA, FAMILIAL DANISH, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, GAUCHER DISEASE, TYPE IIIC, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, ICHTHYOSIS, X-LINKED, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, C3 DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, [BILIRUBIN, SERUM LEVEL OF, QTL1], PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, RETINITIS PIGMENTOSA 10, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, LYSYL HYDROXYLASE 3 DEFICIENCY, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, PARAGANGLIOMAS 3, INFANTILE NEUROAXONAL DYSTROPHY 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, CREATINE PHOSPHOKINASE, ELEVATED SERUM, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, CILIARY DYSKINESIA, PRIMARY, 32, ?WEBB-DATTANI SYNDROME, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, HYPOKALEMIC PERIODIC PARALYSIS 1, IMMUNODEFICIENCY, COMMON VARIABLE, 5, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, 3-METHYLGLUTACONIC ACIDURIA, TYPE III, HYPERPROLINEMIA, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, SCOTT SYNDROME, NAIL-PATELLA SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, IMAGE SYNDROME, ASPARTYLGLUCOSAMINURIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, HYPERALDOSTERONISM, FAMILIAL, TYPE III, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, KANZAKI DISEASE, PEROXISOME BIOGENESIS DISORDER 7B, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, KARTAGENER SYNDROME, ?CRANIOECTODERMAL DYSPLASIA 4, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, OSTEOLYSIS, FAMILIAL EXPANSILE, AGAMMAGLOBULINEMIA 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), {AUTISM SUSCEPTIBILITY, X-LINKED 3}, 2-METHYLBUTYRYLGLYCINURIA, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC, TYROSINEMIA, TYPE II, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, FANCONI ANEMIA, COMPLEMENTATION GROUP A, CILIARY DYSKINESIA, PRIMARY, 21, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, PANCREATIC AGENESIS 1, NIJMEGEN BREAKAGE SYNDROME, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, NIEMANN-PICK DISEASE, TYPE A, ANAUXETIC DYSPLASIA, ARGININOSUCCINIC ACIDURIA, PSEUDOHYPOPARATHYROIDISM IA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CEREBROTENDINOUS XANTHOMATOSIS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, METHYLMALONYL-COA EPIMERASE DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 33, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, SEBASTIAN SYNDROME, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IH, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MUCOLIPIDOSIS IV, MEDNIK SYNDROME, COACH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, PEROXISOME BIOGENESIS DISORDER 3B, FRUCTOSE INTOLERANCE, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, NEPHROTIC SYNDROME, TYPE 2, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?DIAMOND-BLACKFAN ANEMIA 12, MCLEOD SYNDROME WITH OR WITHOUT CHRONIC GRANULOMATOUS DISEASE, BECKER MUSCULAR DYSTROPHY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, GLYCOGEN STORAGE DISEASE VII, APPARENT MINERALOCORTICOID EXCESS, KRABBE DISEASE, ?DIARRHEA 7, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, GRACILE BONE DYSPLASIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, GALLBLADDER DISEASE 1, CYSTINURIA, VON WILLEBRAND DISEASE, PLATELET-TYPE, SALLA DISEASE, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, GRAY PLATELET SYNDROME, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, METHYLMALONIC ACIDURIA, MUT(0) TYPE, HYPERCHYLOMICRONEMIA, LATE-ONSET, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], ?ACAT2 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 5, GLASS SYNDROME, MYOPATHY, CENTRONUCLEAR, 4, BROWN-VIALETTO-VAN LAERE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 10, DIAMOND-BLACKFAN ANEMIA 6, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), FANCONI ANEMIA, COMPLEMENTATION GROUP E, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, EPISODIC ATAXIA/MYOKYMIA SYNDROME, ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), IMMUNODEFICIENCY 43, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, GAUCHER DISEASE, PERINATAL LETHAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HMG-COA LYASE DEFICIENCY, NORUM DISEASE, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MIYOSHI MUSCULAR DYSTROPHY 3, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI RENOTUBULAR SYNDROME 2, EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {KURU, SUSCEPTIBILITY TO}, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 2, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, MARINESCO-SJOGREN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, COMPLEMENT FACTOR H DEFICIENCY, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, RENAL TUBULAR ACIDOSIS, DISTAL, AD, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, ALPORT SYNDROME, IMINOGLYCINURIA, DIGENIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), CYSTATHIONINURIA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, MAY-HEGGLIN ANOMALY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 6B, D-2-HYDROXYGLUTARIC ACIDURIA, OROFACIODIGITAL SYNDROME I, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, ACROMICRIC DYSPLASIA, BRITTLE CORNEA SYNDROME 1, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPHOSPHATEMIC RICKETS, ?SNEDDON SYNDROME, NEPHROTIC SYNDROME, TYPE 3, PARAGANGLIOMAS 4, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, CILIARY DYSKINESIA, PRIMARY, 29, 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, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, GLUTATHIONE SYNTHETASE DEFICIENCY, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, ALSTROM SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, ADENYLOSUCCINASE DEFICIENCY, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, [SARCOSINEMIA], INTERSTITIAL LUNG AND LIVER DISEASE, ALBINISM, OCULOCUTANEOUS, TYPE IA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, DIAMOND-BLACKFAN ANEMIA 3, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, GLYCOGEN STORAGE DISEASE XII, RUBINSTEIN-TAYBI SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, GLUCOCORTICOID DEFICIENCY 4, CEROID LIPOFUSCINOSIS, NEURONAL, 8, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEBER OPTIC ATROPHY AND DYSTONIA, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RIBOFLAVIN DEFICIENCY, MUSCLE GLYCOGENOSIS, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, MUCKLE-WELLS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MULTIPLE ENDOCRINE NEOPLASIA 1, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, THYROID DYSHORMONOGENESIS 1, HYPERGLYCINURIA, INFANTILE LIVER FAILURE SYNDROME 2, CAFFEY DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, LOWE SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, GLYCINE ENCEPHALOPATHY, ALZHEIMER DISEASE-2, GAPO SYNDROME, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, LIPOID ADRENAL HYPERPLASIA, LYMPHOPROLIFERATIVE SYNDROME 1, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, METACHROMATIC LEUKODYSTROPHY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ABETALIPOPROTEINEMIA, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, KENNY-CAFFEY SYNDROME, TYPE 2, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, LIPASE DEFICIENCY, COMBINED, DIABETES INSIPIDUS, NEPHROGENIC, PEELING SKIN SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, [ACETYLATION, SLOW], ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ATAXIA-OCULOMOTOR APRAXIA 3, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, VERHEIJ SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, MANNOSIDOSIS, ALPHA-, TYPES I AND II, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, PORENCEPHALY 1, ?PROGESTERONE RESISTANCE, ?UROCANASE DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, MANDIBULOACRAL DYSPLASIA, NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY, VAN BUCHEM DISEASE, TYPE 2, COMBINED HYPERLIPIDEMIA, FAMILIAL, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, MEND SYNDROME, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, HYPOURICEMIA, RENAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, ZINC DEFICIENCY, TRANSIENT NEONATAL, GALACTOKINASE DEFICIENCY WITH CATARACTS, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPERBILIVERDINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, CITRULLINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, VIBRATORY URTICARIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, IMMUNODEFICIENCY, COMMON VARIABLE, 6, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, [URIC ACID CONCENTRATION, SERUM, QTL1], TIMOTHY SYNDROME, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), CITRULLINEMIA, TYPE II, NEONATAL-ONSET, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, [PREMATURE CHROMATID SEPARATION TRAIT], ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LIPODYSTROPHY, FAMILIAL PARTIAL, 2, CARPAL TUNNEL SYNDROME, FAMILIAL, MYOPATHY, MYOFIBRILLAR, 4, GLYCOGEN STORAGE DISEASE IC, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, [GILBERT SYNDROME], HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MYASTHENIC SYNDROME, CONGENITAL, 16, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HYPERLYSINEMIA, LIPOPROTEIN LIPASE DEFICIENCY, XERODERMA PIGMENTOSUM, VARIANT TYPE, DICARBOXYLIC AMINOACIDURIA, SMITH-MAGENIS SYNDROME, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, SACCHAROPINURIA, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, SED, MAROTEAUX TYPE, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, MCARDLE DISEASE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, HYPOURICEMIA, RENAL, 2, {URIC ACID CONCENTRATION, SERUM, QTL 2}, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, OSTEOGENESIS IMPERFECTA, TYPE XVII, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, ANEMIA, SIDEROBLASTIC, 1, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, CONE-ROD DYSTROPHY, X-LINKED, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, BARAITSER-WINTER SYNDROME 1, DIHYDROPYRIMIDINURIA, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, GLUTAMINE DEFICIENCY, CONGENITAL, GLYCOGEN STORAGE DISEASE VI, [HISTIDINEMIA], SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DIAMOND-BLACKFAN ANEMIA 13, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 4, AMINOACYLASE 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS IS, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, ALBINISM, OCULOCUTANEOUS, TYPE III, ?REYNOLDS SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TYROSINEMIA, TYPE III, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, HEMOCHROMATOSIS, TYPE 2A, MITOCHONDRIAL MYOPATHY WITH DIABETES, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, THYROID DYSHORMONOGENESIS 2A, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, DIAMOND-BLACKFAN ANEMIA 8, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, VELOCARDIOFACIAL SYNDROME, PRIMARY PULMONARY HYPERTENSION, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, WRINKLY SKIN SYNDROME, [BLOOD GROUP, DUFFY SYSTEM], HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ACHONDROGENESIS IB, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6, HYPOMAGNESEMIA 6, RENAL, MUCOLIPIDOSIS III ALPHA/BETA, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, GAUCHER DISEASE, TYPE I, MODY, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), ALAGILLE SYNDROME, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, OCULAR ALBINISM, TYPE I, NETTLESHIP-FALLS TYPE, ANDERSEN SYNDROME, IMMUNODEFICIENCY 23, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, EPSTEIN SYNDROME, 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}, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, PENDRED'S SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, TRYPSINOGEN DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, SESAME SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, CILIARY DYSKINESIA, PRIMARY, 26, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, GITELMAN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, OSTEOGENESIS IMPERFECTA, TYPE V, CILIARY DYSKINESIA, PRIMARY, 17, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, SEA-BLUE HISTIOCYTE DISEASE, XERODERMA PIGMENTOSUM, GROUP D, HEMOCHROMATOSIS, TYPE 3, BRODY MYOPATHY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, {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, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NEPHROTIC SYNDROME, TYPE 9, COCKAYNE SYNDROME, TYPE B, COENZYME Q10 DEFICIENCY, PRIMARY, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, FECHTNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), MITOCHONDRIAL DNA DEPLETION SYNDROME 11, ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, ?MENTAL RETARDATION, X-LINKED 91, ATRANSFERRINEMIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, WHITE SPONGE NEVUS 1, MEVALONIC ACIDURIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, TRANSCOBALAMIN II DEFICIENCY, PARKINSONISM-DYSTONIA, INFANTILE, PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), CEREBRAL CREATINE DEFICIENCY SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 9, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, CRANIOECTODERMAL DYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, BURN-MCKEOWN SYNDROME, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, GLYCOGEN STORAGE DISEASE IXC, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, GLYCOGEN STORAGE DISEASE 0, LIVER, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, ATELEIOTIC DWARFISM, THROMBOCYTOPENIC PURPURA, AUTOIMMUNE, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, HYPOMAGNESEMIA 1, INTESTINAL, GLOMUVENOUS MALFORMATIONS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 2, PLASMA FIBRONECTIN DEFICIENCY, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, GALACTOSE EPIMERASE DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, [BLOOD GROUP, LUTHERAN NULL], NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYOPATHY, MYOFIBRILLAR, 2, BARTTER SYNDROME, TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, C1R/C1S DEFICIENCY, COMBINED, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, HYPOMAGNESEMIA 3, RENAL, AICARDI-GOUTIERES SYNDROME 4, HERMANSKY-PUDLAK SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CILIARY DYSKINESIA, PRIMARY, 19, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, CEREBROOCULOFACIOSKELETAL SYNDROME 4, LYSINURIC PROTEIN INTOLERANCE, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, CILIARY DYSKINESIA, PRIMARY, 5, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, AGAMMAGLOBULINEMIA, X-LINKED 1, FARBER LIPOGRANULOMATOSIS, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, SYSTEMIC LUPUS ERYTHEMATOSUS 16, [PENTOSURIA], MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SMITH-LEMLI-OPITZ SYNDROME, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, THYROID HORMONE RESISTANCE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, DESMOSTEROLOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, {HODGKIN LYMPHOMA, SUSCEPTIBILITY TO}, GM1-GANGLIOSIDOSIS, TYPE II, MOWAT-WILSON SYNDROME, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ENHANCED S-CONE SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, COWCHOCK SYNDROME, ALKAPTONURIA, CILIARY DYSKINESIA, PRIMARY, 24, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, GLYCOGEN STORAGE DISEASE IA, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), CILIARY DYSKINESIA, PRIMARY, 20, MACULAR CORNEAL DYSTROPHY, HYPOMAGNESEMIA 2, RENAL, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, RETINITIS PIGMENTOSA 1, CRIGLER-NAJJAR SYNDROME, TYPE II, GLYCOGEN STORAGE DISEASE II, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, L-2-HYDROXYGLUTARIC ACIDURIA, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XIII, GAUCHER DISEASE, TYPE III, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PERRAULT SYNDROME 5, CHILD SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, EHLERS-DANLOS SYNDROME, TYPE IV, [CHITOTRIOSIDASE DEFICIENCY], MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, GLYCOGEN STORAGE DISEASE XI, GLYCOGEN STORAGE DISEASE X, THYROID DYSHORMONOGENESIS 4, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ALEXANDER DISEASE, HEMOCHROMATOSIS, TYPE 4, PROPERDIN DEFICIENCY, X-LINKED, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, NEPHROTIC SYNDROME, TYPE 12, CILIARY DYSKINESIA, PRIMARY, 2, DIAMOND-BLACKFAN ANEMIA 7, HAWKINSINURIA, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 18, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, ?GLYCOGEN STORAGE DISEASE XIII, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, NONAKA MYOPATHY, MULLERIAN APLASIA AND HYPERANDROGENISM, ?NARCOLEPSY 7, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, SELECTIVE T-CELL DEFECT, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA IIB, ADENINE PHOSPHORIBOSYLTRANSFERASE 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}, MIYOSHI MUSCULAR DYSTROPHY 1, MOLYBDENUM COFACTOR DEFICIENCY A, SPERMATOGENIC FAILURE 5, BOUCHER-NEUHAUSER SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, BILE ACID MALABSORPTION, PRIMARY, BRUCK SYNDROME 2, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, ATAXIA-TELANGIECTASIA-LIKE DISORDER, NATIVE AMERICAN MYOPATHY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATRIOVENTRICULAR SEPTAL DEFECT 3, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, LIPOYLTRANSFERASE 1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 14B, IMMUNODEFICIENCY 44, BRUNNER SYNDROME, FANCONI-BICKEL SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY, ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HARTNUP DISORDER, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, EPILEPSY, PYRIDOXINE-DEPENDENT, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WELANDER DISTAL MYOPATHY, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ARTS SYNDROME, GM2-GANGLIOSIDOSIS, AB VARIANT, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2}, LIANG DISTAL MYOPATHY, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, BARTTER SYNDROME, TYPE 4B, DIGENIC, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, CILIARY DYSKINESIA, PRIMARY, 18, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, TRIMETHYLAMINURIA, CARDIOMYOPATHY, DILATED, 1A, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, GABA-TRANSAMINASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, PLASMA TRIGLYCERIDE LEVEL QTL, LOW, COENZYME Q10 DEFICIENCY, PRIMARY, 3, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THYROID DYSHORMONOGENESIS 5, IMMUNODEFICIENCY, COMMON VARIABLE, 4, CARTILAGE-HAIR HYPOPLASIA, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, LIVER FAILURE, TRANSIENT INFANTILE, HYPOMYELINATION, GLOBAL CEREBRAL, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, ?NARCOLEPSY 1, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, COCKAYNE SYNDROME, TYPE A, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, FACTOR XIIIB DEFICIENCY, ATELOSTEOGENESIS, TYPE I, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, NEPHROLITHIASIS, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), FAMILIAL MEDITERRANEAN FEVER, AR, MUCOLIPIDOSIS II ALPHA/BETA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, NEPHROTIC SYNDROME, TYPE 11, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 4, EHLERS-DANLOS SYNDROME, TYPE VI, RENAL CYSTS AND DIABETES SYNDROME, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MYOPATHY, SPHEROID BODY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FOLATE MALABSORPTION, HEREDITARY, AICARDI-GOUTIERES SYNDROME 2, CYANOSIS, TRANSIENT NEONATAL, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, MYELOPEROXIDASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, RIDDLE SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, SHWACHMAN-DIAMOND SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE II, LACTASE DEFICIENCY, CONGENITAL, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, DIGEORGE SYNDROME, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, ?MUCOPOLYSACCHARIDOSIS TYPE IX, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, CILIARY DYSKINESIA, PRIMARY, 28, BIOTINIDASE DEFICIENCY, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, SIALIC ACID STORAGE DISORDER, INFANTILE, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ALLAN-HERNDON-DUDLEY SYNDROME, AICARDI-GOUTIERES SYNDROME 6, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, ?HYDROXYKYNURENINURIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, CPT II DEFICIENCY, LETHAL NEONATAL, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4, THYROID DYSHORMONOGENESIS 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CILIARY DYSKINESIA, PRIMARY, 27, LATHOSTEROLOSIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), DENT DISEASE, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, JOHANSON-BLIZZARD SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, SITOSTEROLEMIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, PEROXISOME BIOGENESIS DISORDER 2B, SPLENIC HYPOPLASIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {METABOLIC SYNDROME, PROTECTION AGAINST}, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CEROID LIPOFUSCINOSIS, NEURONAL, 5, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, CHYLOMICRON RETENTION DISEASE, HYPOPHOSPHATEMIC RICKETS, AR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA, C8 DEFICIENCY, TYPE I, ?PRECOCIOUS PUBERTY, CENTRAL, 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, {AUTISM SUSCEPTIBILITY, X-LINKED 2}, MENTAL RETARDATION, X-LINKED, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 3, PAGET DISEASE OF BONE 6, COENZYME Q10 DEFICIENCY, PRIMARY, 5, CRYOHYDROCYTOSIS, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, VICI SYNDROME, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, BERGER DISEASE, NIEMANN-PICK DISEASE, TYPE B, INTRINSIC FACTOR DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, PREMATURE OVARIAN FAILURE 1, [FRUCTOSURIA], FISH-EYE DISEASE, 5-OXOPROLINASE DEFICIENCY, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, AMYOTROPHIC LATERAL SCLEROSIS 21, CANAVAN DISEASE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, FAMILIAL MEDITERRANEAN FEVER, AD, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, MASP2 DEFICIENCY, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, BRUGADA SYNDROME 9, ?46XY SEX REVERSAL 5, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, EPIDERMODYSPLASIA VERRUCIFORMIS, MICROCEPHALY, AMISH TYPE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, C4A DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 23, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, HYPERPARATHYROIDISM 1, {OBESITY, SEVERE, SUSCEPTIBILITY TO, BMIQ9}, EPILEPSY, PROGRESSIVE MYOCLONIC 6, MANNOSIDOSIS, BETA, ENTEROKINASE DEFICIENCY, SHORT SYNDROME, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, MUCOLIPIDOSIS III GAMMA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPERCALCEMIA, INFANTILE, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, MYOPATHY, TUBULAR AGGREGATE, 1, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, CILIARY DYSKINESIA, PRIMARY, 16, COENZYME Q10 DEFICIENCY, PRIMARY, 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, PSEUDOHYPOPARATHYROIDISM IC, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, {THIOPURINES, POOR METABOLISM OF, 2}, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, LEUKODYSTROPHY, HYPOMYELINATING, 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, SULFITE OXIDASE DEFICIENCY, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, METHEMOGLOBINEMIA, TYPE IV, HYPERFERRITINEMIA-CATARACT SYNDROME, PYRUVATE KINASE DEFICIENCY, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, VITREORETINOCHOROIDOPATHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, FACTOR X DEFICIENCY, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, WOODHOUSE-SAKATI SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, NIEMANN-PICK DISEASE, TYPE C2, CEREBRAL AMYLOID ANGIOPATHY, PSORIASIS 14, PUSTULAR, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, KNIEST DYSPLASIA, XERODERMA PIGMENTOSUM, TYPE 1, HYPERPARATHYROIDISM, NEONATAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, CALCIUM OXALATE UROLITHIASIS, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, MYOPATHY DUE TO CPT II DEFICIENCY, NEPHROTIC SYNDROME, TYPE 6, INTERSTITIAL NEPHRITIS, KARYOMEGALIC, LEUKOCYTE ADHESION DEFICIENCY, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, HYPOPHOSPHATASIA, CHILDHOOD, PAGET DISEASE OF BONE 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MYOTONIC DYSTROPHY 2, CILIARY DYSKINESIA, PRIMARY, 22, TRICHOHEPATOENTERIC SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, SPHEROCYTOSIS, TYPE 2, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

Associated genes: TSC2, MSH6, UROD, GPT2, GP1BA, RPL5, FTL, GUSB, ENPP1, GSS, ALG3, SEMA3D, SLC6A8, GNPTAB, MS4A1, OCRL, DNAI2, CREBBP, SLC16A12, DNASE1L3, RPS7, GCM2, APOA1, MTTP, ENO3, CD79A, GSN, DAG1, ALAD, IRAK3, SPARC, SPEG, RHAG, GALNT3, RPS10, CYP21A2, CP, ALDOA, PRPS1, ALDH4A1, SUFU, NDUFAF2, NDUFS7, GLDC, AXIN1, TANGO2, SLC22A12, ABCB4, ACAT2, A2M, HOXA11, FAR1, XRCC4, PTPN22, ADK, IFT122, TAT, LRP5, HINT1, LAMA2, SRCAP, HPD, COMT, LIPI, CCDC65, FOXRED1, SPRTN, COL4A3, EHHADH, FH, B4GALT7, AMT, AKR1D1, FANCL, LIPA, IVD, ZFP57, DPM2, TSC1, MC1R, NDUFS2, CCBE1, UGT1A1, PEX14, GAS8, CYBA, LRRC6, AURKC, MTNR1B, PGK1, RAI1, DGUOK, WRAP53, MTAP, IDUA, TRPM6, MT-ATP6, NBN, PRF1, IRS1, FOXN1, IGF1, PET100, RBCK1, MAOA, CSF2RB, DOK7, ALDOB, CYP7B1, PYGL, ATP2A1, CYB5A, HGD, EPX, SLC1A1, RPS24, PTH, MEN1, GDNF, STAC3, ETFDH, MCPH1, TNFRSF11A, STAT3, CUBN, NCF1, PDGFRL, SLC2A2, DNAJB6, SLC30A10, UBR1, SC5D, ALDH3A2, KLHDC8B, DMGDH, DHTKD1, PCSK1, MUT, COQ6, SLC52A1, LHX4, MT-TT, GCLC, ATP13A2, ITGA6, ABHD12, MT-ND3, UQCC2, SETX, TEX15, NTRK1, FCN3, MFSD2A, IDS, F13B, CACNA1C, RFX5, PLG, ADCK4, ETFA, GYS2, FCGR2B, PEX10, PCSK9, CEBPE, TUFM, ADGRE2, PDX1, SOD1, SPTA1, STT3B, ADSL, MT-ND6, FAS, DNAAF3, HEXB, NDUFA1, MTHFR, CDH1, STK11, FMR1, WISP3, PDP1, FBP1, PIK3CA, UGT1A4, ARNT2, ACTA1, LIG4, NDUFAF6, COQ4, FAM134B, ABCB11, ARMC4, NOS3, CCND1, SLC2A9, ADCK3, ALDH6A1, HEXA, PLOD3, NLGN4X, ACAD9, EBP, SLC25A13, ABCG8, DPYD, TSHB, ABCB7, CASQ1, PAPSS2, COX14, PANK2, TBX1, LAMP2, PGAP2, TPO, DNAH8, ADCY10, CDSN, TNPO3, LMF1, SLC22A5, PAX2, LIAS, ITGB2, CNNM2, C21orf59, FHL1, FBN1, TPMT, DNAAF5, FGFR3, POLG2, STAT2, GPD1, FAH, NRAS, PDSS2, PRICKLE2, BAAT, DPM1, PRKCSH, TNFAIP3, GFRA1, ATP7A, SARDH, ERCC4, SOST, PGAP3, GATM, WDR19, FASTKD2, PLOD2, DLAT, EDNRB, POLG, AGPAT2, PSPH, SLC25A12, CD46, MARS2, HLCS, ACOX1, TBCE, SRD5A3, NDUFA11, ERCC1, GUCY2C, PHYH, DSG1, RYR2, SCO2, ALG2, RFX6, RSPH1, GNAI2, SLC5A5, NDUFB9, THRB, SERPIND1, PRSS2, CHD7, TNFRSF13C, DNAJC5, TRAPPC11, GLUL, DNAL1, LYRM7, OPA3, PGR, BCKDHA, C1R, FAT3, RELN, NCF2, NEU1, IMPDH1, GCDH, MAX, CLPB, POMT2, MATR3, PLIN1, TNFRSF13B, TTR, SLC7A9, SFXN4, MC2R, CLN6, C19orf12, SLC25A26, CFTR, SLC25A4, KYNU, NUP93, PSAT1, GAA, LYRM4, NEFH, HCCS, ASL, WRN, DISC1, NEB, INSR, SCN9A, RNASET2, GLA, TACO1, PLA2G6, DGKE, POLR2F, RARS2, SERAC1, MTHFD1, CHKB, DCAF17, MTRR, HAGH, HFE2, HBB, PROS1, LMNA, BCKDHB, ACADS, CIITA, GGCX, NSDHL, NLRP12, LHX3, TRIM32, G6PC, WNK1, TNXB, LIPT1, CTRC, ATRX, ECHS1, PAX4, THRA, MTOR, ASAH1, CST3, MGAT2, NR0B1, AIFM1, SLC30A8, JAK2, ANK1, AAAS, SGSH, CYP11B2, HYDIN, NT5C3A, GNAS-AS1, GAMT, ARG1, MT-CO1, CAV3, BANF1, MGME1, CTNNB1, HMBS, SMAD4, PIGY, IGHM, ITIH4, HBA1, RSPH4A, RFXAP, AIP, SETD1A, NPHS1, TRMU, GLI3, STAP1, MT-TH, BGLAP, CD59, SPINK5, HAVCR1, TTC19, KNG1, GPIHBP1, GIF, PIGA, NPHP1, GATA4, HADHB, MT-CO2, D2HGDH, COL5A2, COL6A1, TPK1, ALG1, FKTN, MMADHC, STAR, BDNF, HLA-DQB1, NR3C1, SDHB, APOA5, TAP2, ALAS2, ARMC5, ARHGDIA, APOB, CPT2, ACP2, MOCS2, MS4A2, CHCHD10, KLHL3, ICR1, PDE11A, NPC1, MCCC2, KCNA1, GALNS, NR2E3, AARS2, RPIA, NR3C2, SERPING1, SPR, DDC, PEX26, SLC26A4, APOL4, GORAB, MPI, DCXR, PRODH, L2HGDH, CASR, FANCA, RB1, BCAM, MICU1, GCK, STIM1, CDKN3, ADAR, CBS, GHR, GMPPB, TAZ, AASS, COL4A4, SLC52A2, BMP2, HSD11B2, GBE1, VDR, DRD3, PARK2, COQ9, EGFR, COG4, MAPK8IP1, CA12, BVES, FARS2, QDPR, AKAP10, KIT, PEX1, CYBB, MTFMT, KRT8, ITGB4, PLCE1, TYMP, VCP, SPTB, ZBTB24, DUOX2, BLM, ACTN4, AMPD1, PUS1, NDUFS6, AGA, SLC3A1, PEX16, SLC10A2, TIA1, ADA, ALDH18A1, NLRP3, DYRK1B, FECH, MYH14, LARGE1, F7, CYP27A1, CTSA, SETBP1, RSPH3, NTF3, AGT, SEPT9, PPP1R3A, FOXI1, RPGRIP1L, MANBA, PRG4, IL21R, RPL15, TH, GALT, ABCD1, ACSL4, SPAG1, HNRNPA1, MTO1, FANCD2, MOG, RSPO1, UROC1, SCNN1G, NAGS, NDUFAF4, MRPS22, ANOS1, KCNJ18, PARN, SORT1, CAD, SCNN1A, MT-TK, KCND3, GFPT1, ICOS, PSMB8, LMBRD1, APTX, PNPLA8, MPC1, ANLN, PFKM, TMEM173, PTPN1, IFNG, CLDN16, TFG, TMLHE, INS, MOCS1, KCNA5, YARS2, AMHR2, C15orf41, SLC25A19, LMX1B, TJP2, TMPRSS6, CNTN1, VHL, COL4A1, KIF1B, FKBP14, FN1, PHGDH, DCTN1, TERT, ABCG2, H19, UPB1, F13A1, SLC9A3R1, ALDH5A1, CCNO, CHEK2, PUF60, PHKG2, PTRF, JAK3, DNASE1, AFP, TMEM127, SOS1, ATM, GBA, SUCLG1, SERPINA6, STX11, LIMS2, TARS2, XK, HRAS, OCLN, C8A, SLC12A3, TMEM199, DHFR, IER3IP1, CHI3L1, FUCA1, SLC17A3, SLC35A1, GLB1, SLCO1B1, ACAT1, COL5A1, SLC11A2, KISS1R, TK2, CDKN2A, KCNN4, COX20, WNT4, HSD17B10, AUH, POU1F1, ABCC2, RRM2B, VWF, NKX2-5, CDAN1, GP1BB, LMNB1, UQCC3, TERC, CRX, PTCH2, HELLS, KRT18, TTPA, THPO, PYCR1, TSFM, LDHA, SLC4A1, CD81, NUP107, SLC7A7, ITK, GLUD1, BPGM, UVSSA, PAX8, AHSG, HNF4A, SGCA, KCNQ1OT1, MECP2, PDCD1, ATPAF2, SMARCAL1, RMND1, BRCA1, SRD5A2, LDLR, PIEZO1, MT-TS1, ARSB, RAG2, ITPR3, PNPT1, ANGPTL3, HESX1, GUCY2D, FLNA, PDHA1, SLC34A3, ETFB, GOSR2, PRKACA, CD19, BLVRA, SLCO2A1, CPS1, RPGR, MPV17, FANCC, MT-ND5, FLNC, PNP, FASLG, DNMT3B, NHP2, MYH11, PEX2, SELP, HPS1, CA2, ADAMTS13, FGFR1, RASGRP2, PIGW, CC2D2A, LBR, CUL3, ATP6V1B1, DBT, SLC6A3, GLMN, B2M, GALK1, SPINK1, RANBP2, ESCO2, MCCC1, ERCC6, AGK, POR, CYB5R3, P3H1, MAFB, SLC6A19, PTEN, MYOT, SCN4A, ALMS1, PIK3R5, F9, SLC39A8, SKIV2L, SYNE1, CFH, PLAG1, HMGA1, ALG11, BMPR1A, KCNJ1, NKX2-1, CNTN5, HSPD1, MT-CYB, ABCD4, TNNT2, SH2D1A, FBXL4, HTR2A, FXYD2, PDE6B, CHST6, OAT, SSR4, HNF1B, NDUFA12, NLGN3, PSEN2, CTSD, PNKP, DBH, MMACHC, TAPBP, SLC5A1, COX15, PEX13, DMP1, IL1RN, XPC, CFP, SDHAF1, SLC2A1, SLC46A1, OSMR, ERCC6L2, SLC17A5, RFXANK, LPL, PDHX, DYX1C1, PDSS1, HLA-B, PCCA, MT-TF, FKRP, POMK, TYR, DHCR24, TCAP, PCK1, NOP10, PEX5, HPGD, B3GALNT2, MITF, TREX1, MYC, POMT1, F5, SEMA3E, PSEN1, CAPN5, SNX10, ALPL, ANO5, PCCB, CCT5, APOPT1, ACY1, NDUFB3, HADH, SLC25A1, MT-CO3, CYP11B1, CDC73, USP8, CLCN7, GPX1, CAV1, SERPINA1, NDUFAF1, PKLR, PPT1, TTC37, SMAD9, CORO1A, AMACR, SCARB2, MYBPC3, RPS29, GTPBP3, EARS2, MRPS16, EDN3, TCIRG1, PPP1R17, XDH, CHIT1, FGF23, PIGM, BOLA3, BRAF, BCO1, PIGR, GNPTG, BLNK, KCNJ5, OPCML, GNS, TCN2, CYP27B1, NFKB2, TMEM70, CRB2, TNFRSF11B, NAGLU, PEX3, FAM111B, SLC16A2, RNASEH2C, LMNB2, SLC20A2, PRSS1, UMOD, OPN1SW, LYZ, SERPINF2, NDUFV1, OTC, SH2B3, AR, SLC12A6, KCNJ10, ABCB6, TFR2, TINF2, IL6, CRYAB, HCFC1, CTLA4, ASPA, CCDC151, FCGR2A, SYNE2, ATIC, C3AR1, DNAH11, BRCA2, SQSTM1, TBX19, WNK4, PEX6, TMPRSS15, CARS2, CTH, PMM2, BEST1, ZEB2, CCDC115, LIPE, COL1A1, JAG1, SBDS, PRPH, CDKAL1, BAG3, MRE11A, COL2A1, NUBPL, AMN, CASP8, SLC39A4, NUDT15, DCLRE1C, MYF6, CLDN19, MOGS, NNT, ABCA1, PLOD1, POLH, CACNA1F, RPS17, SGO1, ERCC5, BCR, SAMHD1, UQCRQ, NDUFA9, RBP4, ATP8B1, DKC1, ERCC8, ABCC8, DAO, HPRT1, SDHD, GPR143, STAT1, TXN2, BCS1L, MCM9, LTBP2, IL36RN, PRKAR1A, SAMD9, ITPR2, COQ2, MT-ND1, DNA2, RTN4R, POLD1, HNF1A, ACADSB, DDB2, TNFRSF10B, ABCD3, CLN3, NDUFS3, SLC40A1, AGPS, DOCK8, SDHA, ABCG5, CETP, NAT8L, FADD, RP1, SLC33A1, CBX2, SGCG, DRC1, CACNA1S, IYD, NDUFAF5, CD27, DISC2, ISPD, SLC36A2, ISCU, HCRT, OPLAH, DNAJC19, CNBP, RAG1, PIGT, MYD88, TAP1, RNASEH1, CAPN10, OCA2, ELAC2, SLC35A2, COX10, ING1, COL6A3, MAN2B1, CCDC103, IBA57, MASP2, NDUFS8, COQ7, HAL, ERCC2, HLA-DQA1, PTCH1, APOA2, KRAS, MT-TQ, RNASEH2B, MC3R, PLA2G7, SCNN1B, HYAL1, CPOX, EPHX1, ALDH2, MT-ND2, CCDC114, ITM2B, ASS1, MT-TD, MRAP, AVPR2, EPHX2, AP1S1, NDUFA2, SLC19A2, CYP24A1, ZMYND10, SEC23B, HRG, DUOXA2, DYSF, MCOLN1, CFAP53, NLRC4, APC, DMD, PYGM, UROS, NDUFS1, DTNBP1, CFI, SEC63, PGM3, GPD2, MCM4, ATP7B, LDB3, ACADM, NPC2, DDOST, HGSNAT, SUMF1, PSAP, HSD17B4, DHCR7, PRNP, RPL35A, SCN5A, NSD1, FXN, TCF7L2, NDUFV2, ZNF592, SLC16A1, CPT1A, RPL11, GCH1, FAM20A, RET, PEX19, KCNJ2, CFHR1, CR2, CACNA1D, APOE, SUOX, WDR73, EPCAM, GNAS, IGF2R, COL3A1, RNASEH2A, ETHE1, VMA21, LCT, GLYCTK, LHCGR, DNAAF1, ITGA3, TBC1D24, MLYCD, POMGNT1, TRMT5, DYNC2H1, SUGCT, PHKB, ATP6V0A2, GH1, KL, NDUFAF3, PHKA2, COL6A2, ALDH7A1, BUB1B, ABAT, TNNI3, BTD, CTSF, HBA2, STT3A, KLKB1, NSUN2, MUC1, SUCLA2, MAT1A, PNPLA6, NDUFA10, SLC12A1, GATA1, FANCE, AGL, MT-TE, KRT4, MCEE, IARS2, CFB, NARS2, AKT1, TPI1, ZNF687, LRPPRC, PCK2, PTPRO, DNAH1, ARSA, GNE, HAMP, CTC1, POLA1, GRHPR, ASNS, VPS13A, ACADVL, PIGN, PTPN11, PEX12, B4GALT1, SLC6A20, NDUFS4, TMC8, LCAT, DNAAF2, CIDEC, PHF11, GMPPA, ZMPSTE24, CLCNKB, MBL2, CALR, PHKA1, LRP2, DGAT1, PNPLA2, KRT1, GM2A, MT-TS2, MMAA, SURF1, MMAB, NHLRC1, ACTB, GRN, COL1A2, GFAP, ITGA2B, PROP1, FGA, IL4R, LRBA, COL4A5, NPR2, TRNT1, MPO, SLC30A2, MEFV, DLD, CAPN3, IKBKAP, IL2RG, KIF1A, FIG4, ANGPTL4, MMP2, SGCD, CLCNKA, NME1, FAN1, NOTCH1, ERCC3, NAGA, ANO6, GPI, TMC6, AVP, GK, VPS33B, LIPC, RMRP, STS, VIPAS39, CPN1, EPG5, SLC26A3, MC4R, TF, MTUS1, BMP1, FOLR1, MT-TL1, FGB, CTNS, SLC29A3, NEUROD1, PTH1R, PEX11B, UBE2T, HBG2, HMGCL, OSTM1, TXNL4A, NPHP3, ASCL1, TP53, SI, BSND, SARS2, HK1, ANTXR1, AIRE, NBAS, ZNF469, PTS, MRPL3, RFT1, TGFB1, PGM1, APOC2, FTH1, RRAS2, IGF1R, MTR, APPL1, F8, SCO1, CYP2A6, DNMT1, EPM2A, COL9A3, OFD1, IFITM5, TMEM67, MAPT, EPOR, SLC25A20, CFD, C10orf2, SATB2, GCGR, SLC34A1, PHEX, FGG, PLAGL1, AP2S1, DNAH5, GALC, TSPYL1, MCM6, NADK2, GJA5, MTPAP, EGLN1, DPYS, SLC37A4, LAMB2, FANCM, PLEKHG5, SLC25A38, OGDH, DNAI1, HADHA, COX8A, ZDHHC15, HMGCS2, PGAM2, PLEC, HR, CLCN5, SDHC, GFM1, PROC, ORAI1, MET, HSD17B3, DNM1L, CD44, PAH, TNFRSF1A, SPRY2, GP9, DNM2, WAS, ACD, TMEM165, TYRP1, COA6, SLCO1B3, SMPD1, OAS1, C3, GNA11, PPOX, KLF1, ACKR1, ATP5A1, THBS4, RPSA, HNRNPDL, RAD51C, TTN, TSHR, RPS19, AQP2, TRPV4, THBD, ALG6, VKORC1, SERPINC1, IGF2BP2, MYH7, CYP2D6, MT-ND4, BCL10, AHNAK, MYH9, COL11A1, NEK1, MYO1E, HAO1, C12orf65, ZHX2, TRH, PIGV, HSD3B7, F10, KHK, IRS2, BSCL2, ZAP70, USB1, PEX7, CYP17A1, FLNB, ALG13, LMAN1, TPP1, APRT, FMO3, BCAP31, ITGB3, STK10, PPARG, FAM111A, MCIDAS, HIBCH, COG6, GNMT, BTK, COX6B1, TG, PNPO, SGCB, CECR1, PIGO, WFS1, EMD, UMPS, CLN8, SLC2A4, CYP2R1, DAOA, ABCA12, SYN2, CA5A, LPIN1, RYR1, LTC4S, NPHS2, AKT2, AGXT, MARS, COPA, SLC9A3, MRPL44, COA5, C4A, HLA-DRB1, SLC35C1, SLC25A15, PEPD, GLRX5, PCBD1, CCDC78, CLN5, NFU1, BMPR2, DPAGT1, KCNJ11, GJA1, CFHR3, FTCD, MVK, MYO5B, FOXP3, FBN2, SLC26A2, GALE, UQCRC2, PHOX2B, PLAU, CYP2C9, CDKN1C, APOL2, GCSH, SIL1, FKBP10, SAR1B, XPA, STX16, INVS, ACACA, RETN, RNF168, CASP10, AMH, AHCY, ING3, SLC39A13, KCTD7, NAT2, CEP57, KDR, GNPAT, FCGR2C, RTEL1, PC, DOLK, ITGA7, MPDU1, CYC1, B4GAT1, NBEAL2, UQCRB, HFE, PIK3R1