ABNORMALITY OF THE DIGESTIVE SYSTEM, HP:0025031

Associated diseases: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), SUPRANUCLEAR PALSY, PROGRESSIVE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, PEROXISOME BIOGENESIS DISORDER 5B, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, TYROSINEMIA, TYPE I, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 2}, NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE, MANNOSIDOSIS, ALPHA-, TYPES I AND II, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, ?NEUTROPHILIA, HEREDITARY, C4B DEFICIENCY, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, GASTRIC CANCER, SOMATIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, MULTIPLE SULFATASE DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, DESMOID DISEASE, HEREDITARY, ROIFMAN SYNDROME, GLUTARICACIDURIA, TYPE I, HERMANSKY-PUDLAK SYNDROME 1, NEPHRONOPHTHISIS 19, ACRODERMATITIS ENTEROPATHICA, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, CHANARIN-DORFMAN SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ABLEPHARON-MACROSTOMIA SYNDROME, MOLYBDENUM COFACTOR DEFICIENCY A, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, TRICHOHEPATOENTERIC SYNDROME 1, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, GRACILE BONE DYSPLASIA, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, VELOCARDIOFACIAL SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 3, ?REYNOLDS SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), PARKINSONISM-DYSTONIA, INFANTILE, OGDEN SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, BILE ACID MALABSORPTION, PRIMARY, RUIJS-AALFS SYNDROME, POLYPOSIS SYNDROME, HEREDITARY MIXED, 2, ALAGILLE SYNDROME 2, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NATIVE AMERICAN MYOPATHY, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), CEREBRAL CREATINE DEFICIENCY SYNDROME 1, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, HELSMOORTEL-VAN DER AA SYNDROME, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, RAPADILINO SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, VON WILLEBRAND DISEASE, TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, HYPERCHLORHIDROSIS, ISOLATED, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, FAZIO-LONDE DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MICROVILLUS INCLUSION DISEASE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, GALACTOKINASE DEFICIENCY WITH CATARACTS, ?MARDEN-WALKER SYNDROME, CRANIOFRONTONASAL DYSPLASIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ROTHMUND-THOMSON SYNDROME, DIARRHEA 6, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, ATRANSFERRINEMIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, FAMILIAL COLORECTAL CANCER, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, FLOATING-HARBOR SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, FG SYNDROME 2, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HYPERBILIVERDINEMIA, PRADER-WILLI SYNDROME, CHOREOACANTHOCYTOSIS, ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, SPINOCEREBELLAR ATAXIA 10, SELECTIVE T-CELL DEFECT, COWDEN SYNDROME 6, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, TYLOSIS WITH ESOPHAGEAL CANCER, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, CARPENTER SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {BUDD-CHIARI SYNDROME}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, HOLOPROSENCEPHALY-2, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, KLEEFSTRA SYNDROME, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), CITRULLINEMIA, TYPE II, NEONATAL-ONSET, ?COMPLEMENT FACTOR B DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, LIPOPROTEIN LIPASE DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, WAARDENBURG SYNDROME, TYPE 4C, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, NEPHRONOPHTHISIS 18, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, ETHYLMALONIC ENCEPHALOPATHY, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, SPINOCEREBELLAR ATAXIA 19, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, MUCOPOLYSACCHARIDOSIS VII, EHLERS-DANLOS SYNDROME, TYPE VIIC, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PARAMYOTONIA CONGENITA, SICKLE CELL ANEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 3}, D-2-HYDROXYGLUTARIC ACIDURIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SPINOCEREBELLAR ATAXIA 8, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4, GLYCOGEN STORAGE DISEASE IC, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, MEIER-GORLIN SYNDROME 2, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, CORNELIA DE LANGE SYNDROME 5, ?AL-GAZALI-BAKALINOVA SYNDROME, HEMOCHROMATOSIS TYPE 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, [GILBERT SYNDROME], CILIARY DYSKINESIA, PRIMARY, 14, CRANIOLENTICULOSUTURAL DYSPLASIA, COMBINED MALONIC AND METHYLMALONIC ACIDURIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MECONIUM ILEUS, TRIMETHYLAMINURIA, SMITH-MAGENIS SYNDROME, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, WAARDENBURG SYNDROME, TYPE 3, HYPER-IGD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, COCOON SYNDROME, LEBER CONGENITAL AMAUROSIS 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, MALONYL-COA DECARBOXYLASE DEFICIENCY, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, ZIMMERMANN-LABAND SYNDROME 1, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, PEROXISOME BIOGENESIS DISORDER 11B, ASPARTYLGLUCOSAMINURIA, GALLBLADDER DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GLASS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE VIII, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ADAMS-OLIVER SYNDROME 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, CPT DEFICIENCY, HEPATIC, TYPE II, BOHRING-OPITZ SYNDROME, MARSHALL-SMITH SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3, PEROXISOME BIOGENESIS DISORDER 7B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), IVIC SYNDROME, GLANZMANN THROMBASTHENIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, MUCOLIPIDOSIS IV, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CARTILAGE-HAIR HYPOPLASIA, DYSAUTONOMIA, FAMILIAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CAUDAL REGRESSION SYNDROME, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, THYROID DYSHORMONOGENESIS 1, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), UROFACIAL SYNDROME 1, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, ARTS SYNDROME, LIVER FAILURE, TRANSIENT INFANTILE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3, PONTOCEREBELLAR HYPOPLASIA TYPE 2A, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CHEDIAK-HIGASHI SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, MUCOPOLYSACCHARIDOSIS IVA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), GLYCOGEN STORAGE DISEASE VI, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, MISMATCH REPAIR CANCER SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, WAARDENBURG SYNDROME, TYPE 4B, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, NIJMEGEN BREAKAGE SYNDROME, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, SILVER-RUSSELL SYNDROME, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, MECKEL SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, VACTERL ASSOCIATION, X-LINKED, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, LACTASE DEFICIENCY, CONGENITAL, MACHADO-JOSEPH DISEASE, MITCHELL-RILEY SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, SPHEROCYTOSIS, TYPE 4, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SPHEROCYTOSIS, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, HEPATIC ADENOMA, SOMATIC, STORMORKEN SYNDROME, CARCINOID TUMORS, INTESTINAL, MASP2 DEFICIENCY, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SHPRINTZEN-GOLDBERG SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, WRINKLY SKIN SYNDROME, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, OBESITY, ADRENAL INSUFFICIENCY, AND RED HAIR DUE TO POMC DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, COENZYME Q10 DEFICIENCY, PRIMARY, 7, OMODYSPLASIA 1, AICARDI-GOUTIERES SYNDROME 5, PERIODIC FEVER, FAMILIAL, ADENOMAS, MULTIPLE COLORECTAL, CONGENITAL DISORDER OF DEGLYCOSYLATION, C SYNDROME, METHYLMALONYL-COA EPIMERASE DEFICIENCY, ABCD SYNDROME, BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, SPHEROCYTOSIS, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), OCCIPITAL HORN SYNDROME, IMMUNODEFICIENCY 19, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, COFFIN-SIRIS SYNDROME 3, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, PSEUDOHYPOALDOSTERONISM, TYPE I, GALLBLADDER DISEASE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, GAUCHER DISEASE, TYPE IIIC, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, C5 DEFICIENCY, ALPHA-METHYLACETOACETIC ACIDURIA, ACHONDROGENESIS IB, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, GAPO SYNDROME, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, MYOPATHY, SPHEROID BODY, CURRARINO SYNDROME, HARP SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, MOLYBDENUM COFACTOR DEFICIENCY C, OROFACIODIGITAL SYNDROME V, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, PAROXYSMAL NONKINESIGENIC DYSKINESIA, TREHALASE DEFICIENCY, MENTAL RETARDATION, X-LINKED 98, GAUCHER DISEASE, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, JOUBERT SYNDROME 10, DIHYDROPYRIMIDINURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, SHWACHMAN-DIAMOND SYNDROME, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, ?IMMUNODEFICIENCY 25, PROLIDASE DEFICIENCY, GALACTOSEMIA, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TYROSINEMIA, TYPE III, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CRIGLER-NAJJAR SYNDROME, TYPE I, PEROXISOME BIOGENESIS DISORDER 3B, DIGEORGE SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 12, MYASTHENIC SYNDROME, CONGENITAL, 5, FRUCTOSE INTOLERANCE, CORNELIA DE LANGE SYNDROME 4, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, LACTASE PERSISTENCE/NONPERSISTENCE, NEPHROTIC SYNDROME, TYPE 1, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, SPINOCEREBELLAR ATAXIA 1, GELEOPHYSIC DYSPLASIA 1, PRIMARY LATERAL SCLEROSIS, JUVENILE, SITOSTEROLEMIA, MECKEL SYNDROME 7, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, GM1-GANGLIOSIDOSIS, TYPE I, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, MEIER-GORLIN SYNDROME 3, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, BRITTLE CORNEA SYNDROME 2, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, ?XFE PROGEROID SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, MECKEL SYNDROME 3, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, KARTAGENER SYNDROME, GLYCEROL KINASE DEFICIENCY, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MICROPHTHALMIA, SYNDROMIC 2, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, ALAGILLE SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, SADDAN, LI-FRAUMENI SYNDROME 2, ?IMMUNODEFICIENCY 22, BECKWITH-WIEDEMANN SYNDROME, PEROXISOME BIOGENESIS DISORDER 6B, SPINOCEREBELLAR ATAXIA 17, MOYAMOYA 6 WITH ACHALASIA, FIBROCHONDROGENESIS 1, KRABBE DISEASE, ?DIARRHEA 7, CHOPS SYNDROME, PSORIASIS 14, PUSTULAR, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, ROBINOW SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, TRYPSINOGEN DEFICIENCY, DUBIN-JOHNSON SYNDROME, 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, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, SIALIC ACID STORAGE DISORDER, INFANTILE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, HYALINE FIBROMATOSIS SYNDROME, HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ESCOBAR SYNDROME, PIEBALDISM, HELLP SYNDROME, MATERNAL, OF PREGNANCY, LCHAD DEFICIENCY, FATTY LIVER, ACUTE, OF PREGNANCY, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ADAMS-OLIVER SYNDROME 4, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), OLIGODONTIA-COLORECTAL CANCER SYNDROME, GITELMAN SYNDROME, LESCH-NYHAN SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, ULNAR-MAMMARY SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, 3MC SYNDROME 1, DYSTONIA 16, ALLAN-HERNDON-DUDLEY SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIH, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CONGENITAL SHORT BOWEL SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, VAN MALDERGEM SYNDROME 2, JOUBERT SYNDROME 6, SENIOR-LOKEN SYNDROME 9, HYPEREKPLEXIA HEREDITARY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, OSTEOGENESIS IMPERFECTA, TYPE XIII, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, STRIATONIGRAL DEGENERATION, INFANTILE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, GRACILE SYNDROME, GLYCOGEN STORAGE DISEASE VII, CPT II DEFICIENCY, LETHAL NEONATAL, ISOVALERIC ACIDEMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 1, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP O, HEMOCHROMATOSIS, TYPE 3, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, ZINC DEFICIENCY, TRANSIENT NEONATAL, OMENN SYNDROME, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, IMMUNODEFICIENCY 15, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, DIABETES INSIPIDUS, NEPHROGENIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, 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, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, PERLMAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, WILSON DISEASE, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, BROWN-VIALETTO-VAN LAERE SYNDROME 2, COCKAYNE SYNDROME, TYPE B, AMISH INFANTILE EPILEPSY SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, LI-FRAUMENI SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, WAARDENBURG SYNDROME, TYPE 4A, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANGIOEDEMA, HEREDITARY, TYPE III, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?OSTEOGENESIS IMPERFECTA, TYPE X, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, LYMPHOPROLIFERATIVE SYNDROME 1, MORBID OBESITY AND SPERMATOGENIC FAILURE, KAUFMAN OCULOCEREBROFACIAL SYNDROME, BETA-UREIDOPROPIONASE DEFICIENCY, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, MULTIPLE ENDOCRINE NEOPLASIA 1, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, 3MC SYNDROME 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, HMG-COA LYASE DEFICIENCY, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ENTEROKINASE DEFICIENCY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, COLD-INDUCED SWEATING SYNDROME 2, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, OPITZ GBBB SYNDROME, TYPE I, SPLENIC HYPOPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, WITH OR WITHOUT NYSTAGMUS, FG SYNDROME 4, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, HYDROLETHALUS SYNDROME, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, TRANSCOBALAMIN II DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7, CRANIOECTODERMAL DYSPLASIA 2, YUNIS-VARON SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MARTSOLF SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, EHLERS-DANLOS SYNDROME, TYPE IV, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, NEPHRONOPHTHISIS 16, CHYLOMICRON RETENTION DISEASE, MECKEL SYNDROME 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, HYPERLIPOPROTEINEMIA, TYPE IB, INFLAMMATORY BOWEL DISEASE 19, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2, HEME OXYGENASE-1 DEFICIENCY, BIOTINIDASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, AMYOTROPHIC LATERAL SCLEROSIS 18, AXENFELD-RIEGER SYNDROME, TYPE 1, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, COMBINED SAP DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, SCHAAF-YANG SYNDROME, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, MULTIPLE ENDOCRINE NEOPLASIA IIA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOECTODERMAL DYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, WOLFRAM SYNDROME 2, KAPPA LIGHT CHAIN DEFICIENCY, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, CORNELIA DE LANGE SYNDROME 3, MILLER SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, NEPHRONOPHTHISIS 3, AMYOTROPHIC LATERAL SCLEROSIS 17, OCULOECTODERMAL SYNDROME, AICARDI-GOUTIERES SYNDROME 3, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, MYASTHENIC SYNDROME, CONGENITAL, 19, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, GLYCOGEN STORAGE DISEASE IXC, IMMUNODEFICIENCY 14, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, UROFACIAL SYNDROME 2, VISCERAL MYOPATHY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, GAUCHER DISEASE, TYPE III, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, CITRULLINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COFFIN-SIRIS SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 7, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, NETHERTON SYNDROME, WISKOTT-ALDRICH SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, RITSCHER-SCHINZEL SYNDROME 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, HYPERCHOLANEMIA, FAMILIAL, IMMUNODEFICIENCY, COMMON VARIABLE, 2, HOLOPROSENCEPHALY-7, 5-OXOPROLINASE DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MEIER-GORLIN SYNDROME 4, PELIZAEUS-MERZBACHER DISEASE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, AMYOTROPHIC LATERAL SCLEROSIS 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), COPROPORPHYRIA, HARDEROPORPHYRIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, NEPHRONOPHTHISIS 15, {PANCREATIC CANCER 2}, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, AGAMMAGLOBULINEMIA 4, MCKUSICK-KAUFMAN SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, FAMILIAL MEDITERRANEAN FEVER, AD, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, PANCREATIC AGENESIS 2, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, GLYCOGEN STORAGE DISEASE IA, COLD-INDUCED SWEATING SYNDROME 1, IMMUNOGLOBULIN A DEFICIENCY 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MANITOBA OCULOTRICHOANAL SYNDROME, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, SMED STRUDWICK TYPE, MUIR-TORRE SYNDROME, COWDEN SYNDROME 5, ASPARAGINE SYNTHETASE DEFICIENCY, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, OROFACIODIGITAL SYNDROME I, ?MECKEL SYNDROME 8, MYOTONIA CONGENITA, RECESSIVE, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CUTIS LAXA, AD, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, GAUCHER DISEASE, ATYPICAL, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, ARTERIAL TORTUOSITY SYNDROME, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, AICARDI-GOUTIERES SYNDROME 4, FARBER LIPOGRANULOMATOSIS, OHDO SYNDROME, X-LINKED, PARAGANGLIOMAS 4, MOHR-TRANEBJAERG SYNDROME, MICROCEPHALY, AMISH TYPE, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, PANCREATIC LIPASE DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HYPERLIPOPROTEINEMIA, TYPE 1D, LEUKODYSTROPHY, HYPOMYELINATING, 3, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, RETINITIS PIGMENTOSA 71, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IO, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPINOCEREBELLAR ATAXIA 7, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8, STAR SYNDROME, CATEL-MANZKE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HETEROTAXY, VISCERAL, 5, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, FASCIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC, BROWN-VIALETTO-VAN LAERE SYNDROME 1, SUCCINYL COA:3-OXOACID COA TRANSFERASE DEFICIENCY, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, ALSTROM SYNDROME, CARPENTER SYNDROME 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, HETEROTAXY, VISCERAL, 4, AUTOSOMAL, MUCOLIPIDOSIS II ALPHA/BETA, GALLOWAY-MOWAT SYNDROME, COACH SYNDROME, POLYCYTHEMIA VERA, SOMATIC, PYRUVATE CARBOXYLASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, INTERSTITIAL LUNG AND LIVER DISEASE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, ?LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HEMOGLOBIN H DISEASE, NONDELETIONAL, SENIOR-LOKEN SYNDROME 8, GLUTARIC ACIDURIA III, AGAMMAGLOBULINEMIA, X-LINKED 1, ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY, CYCLIC VOMITING SYNDROME; CVS, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, KABUKI SYNDROME 2, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, PETERS-PLUS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, TRIGONOCEPHALY 1, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, PITT-HOPKINS SYNDROME, BURN-MCKEOWN SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, DIAPHANOSPONDYLODYSOSTOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP B, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LOWE SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, LYMPHOMA, MALT, SOMATIC, LEBER OPTIC ATROPHY AND DYSTONIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, BIRT-HOGG-DUBE SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, COHEN SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, ?IMMUNODEFICIENCY 16, BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES, RIBOFLAVIN DEFICIENCY, RIGHT ATRIAL ISOMERISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PYRUVATE KINASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9, MAST SYNDROME, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, BRUCK SYNDROME 2, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, C1S DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MUCOPOLYSACCHARIDOSIS II, GLUCOSE/GALACTOSE MALABSORPTION, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, CITRULLINEMIA, ADULT-ONSET TYPE II, LYNCH SYNDROME I, PITT-HOPKINS-LIKE SYNDROME 2, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, DYSTONIA-12, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, KOOLEN-DE VRIES SYNDROME, BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), MECKEL SYNDROME 1, ACHONDROGENESIS, TYPE IA, SPINOCEREBELLAR ATAXIA 6, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, BAINBRIDGE-ROPERS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, VAN MALDERGEM SYNDROME 1, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ARGININEMIA, CEREBROTENDINOUS XANTHOMATOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, VERHEIJ SYNDROME, TENORIO SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, PANCREATIC AGENESIS 1, BARTTER SYNDROME, TYPE 1, OSTEOGLOPHONIC DYSPLASIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, NIEMANN-PICK DISEASE, TYPE A, WIEACKER-WOLFF SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, HEMOCHROMATOSIS, TYPE 2A, CRIGLER-NAJJAR SYNDROME, TYPE II, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, GLYCOGEN STORAGE DISEASE II, NIEMANN-PICK DISEASE, TYPE C2, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CIRRHOSIS, NORTH AMERICAN INDIAN CHILDHOOD TYPE, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, GRAY PLATELET SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, COENZYME Q10 DEFICIENCY, PRIMARY, 5, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, CRANIOECTODERMAL DYSPLASIA 3, GENITOPATELLAR SYNDROME, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {APLASTIC ANEMIA}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, LATHOSTEROLOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, METACHROMATIC LEUKODYSTROPHY, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, PCWH SYNDROME, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, POIKILODERMA WITH NEUTROPENIA, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, TATTON-BROWN-RAHMAN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, AMYOTROPHIC LATERAL SCLEROSIS 8, AGAMMAGLOBULINEMIA 6, SEA-BLUE HISTIOCYTE DISEASE, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ABETALIPOPROTEINEMIA, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2, ANGIOEDEMA, HEREDITARY, TYPES I AND II, RENPENNING SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, INTERSTITIAL NEPHRITIS, KARYOMEGALIC, PANCREATIC CANCER/MELANOMA SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, MECKEL SYNDROME 5, ANDROGEN INSENSITIVITY, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, FOLATE MALABSORPTION, HEREDITARY, HEMOPHILIA B, DIABETES INSIPIDUS, NEPHROGENIC, WEAVER SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, FRASER SYNDROME, PEPCK DEFICIENCY, MITOCHONDRIAL, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, AGAMMAGLOBULINEMIA 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, FUMARASE DEFICIENCY, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, HETEROTAXY, VISCERAL, 6, AUTOSOMAL RECESSIVE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LYMPHOPROLIFERATIVE SYNDROME 2, MECKEL SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {INFLAMMATORY BOWEL DISEASE 13}, CRYOHYDROCYTOSIS, HAMAMY SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, MOLYBDENUM COFACTOR DEFICIENCY B, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CODAS SYNDROME, KABUKI SYNDROME 1, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, CORNELIA DE LANGE SYNDROME 2, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, DENT DISEASE 2, CYANOSIS, TRANSIENT NEONATAL, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, INTRINSIC FACTOR DEFICIENCY

Associated genes: CA2, APOE, ADAMTS13, MSH6, TMEM216, EDNRA, WDR73, TSC2, MECP2, SPINT2, BCKDHB, ACADS, DNM2, CC2D2A, GNA11, NALCN, C3AR1, CLMP, IGF2R, GLI3, BMPR1A, MCOLN1, YARS2, DPM1, FTL, SFTPA2, SPG21, RBBP8, POLD1, B3GAT3, LRRK2, MARS, HBB, TTC7A, SLC26A2, UBA1, BCOR, PNLIP, NSDHL, SLC5A5, KDM6A, SLC19A1, B2M, SLC17A5, SPINK1, ENG, KIF7, PTRH2, TERT, ERCC6, MT-TE, CDC6, NGLY1, FAM58A, DOK7, TTN, FREM1, WNK1, INPP5E, POR, PMS2, TGFBR2, HPSE2, AFG3L2, CYP7B1, GNE, MKS1, LIPT1, EXOSC8, ATXN8, SCARB2, TRMT5, EPCAM, DYNC2H1, AQP2, ALS2, PHKB, MT-TS1, ATRX, SCN4A, FGFR3, SOX2, APOA1, CDKN3, NDUFAF3, COX4I2, BRAF, LBR, ADNP, PHKA2, HAMP, COL6A2, LONP1, ERBB2, NDUFA1, CD79A, GNAS, CHAMP1, GSN, THRA, TMPRSS15, ASNS, C5, BUB1B, CIITA, SKIV2L, ASAH1, KIAA2022, MT-ND6, CASK, ANTXR2, TAF6, BTD, TNXB, PIK3CD, MT-CO2, FANCB, ALAD, ORC6, PYCR1, HBA2, STT3A, IRAK3, KCNJ1, TALDO1, JAK2, GNS, GPC6, ANK1, SUCLA2, AAAS, VPS33B, SGSH, CNTN5, CYP11B2, MKKS, HSPD1, APOC2, ROR2, CHAT, RBM8A, EFTUD2, ABCD4, KRIT1, RYR1, NKX3-2, ALAS2, FBXL4, AVPR2, PSAP, F12, XPNPEP3, ADAMTSL2, KMT2A, AHI1, IL1RN, SMC3, NDUFS7, DNAAF1, PMM2, ACVR1B, GATA1, MGME1, MEN1, ALDOA, ZC4H2, PRKRA, HFE2, TRAF3IP1, IL2RA, LIAS, HNF1B, EP300, SMAD4, BCS1L, ETHE1, DVL3, NCF4, SCNN1B, CHMP1A, SLC25A15, CEP290, NDUFAF2, TPM2, PFKM, SLC2A1, IARS2, HPRT1, LAMA3, STAC3, CFB, PQBP1, SLC6A3, NUP62, CHRNA1, AMER1, TCTN1, RSPH4A, FLVCR1, NODAL, MMACHC, RIPK4, KLF6, AXIN1, MARS2, BLNK, ICR1, LRPPRC, MASP1, SLC5A1, GFI1B, PRKCD, CLPB, RAD54B, ABCB4, ARID1B, LPL, COX15, RHBDF2, EZH2, IRF1, CDH1, RNU4ATAC, DNAH1, PEX13, SOD1, MT-TH, SI, ORC1, EFNB1, PEX5, TSFM, ECHS1, PAX4, NOD2, NAA10, ZEB2, MTM1, COL6A3, GJC2, ADK, REEP1, POLA1, PARK7, HMBS, PIGA, TNFSF11, MOGS, GIF, ITK, TRIP11, AURKA, IGHMBP2, PINK1, PYGL, SLC46A1, SLC12A1, SEPN1, NOTCH1, LAMC2, GALK1, LAMA2, SEC23A, FAT4, RFXANK, PEX12, NDUFA9, PTPN12, PIEZO2, SPG7, PLAU, HPD, PHKG2, DMPK, FH, TSR2, NR4A2, IER3IP1, CHRNB1, ETFDH, D2HGDH, PRPS1, SEMA3D, COL5A2, COL6A1, PCCA, FMR1, DNAAF2, EDN3, DCDC2, C1S, CTSA, NFU1, FKRP, ESCO2, NEU1, CCDC39, SNRPN, RAB40AL, HLA-DQB1, VIPAS39, MCIDAS, SLC6A8, GLRA1, RNF113A, CTCF, MLYCD, JAM3, POMK, FANCL, LIPA, ATXN3, MYH9, DGAT1, TF, PC, POLR3B, PDSS2, PNPLA2, GTF2H5, CDKN2A, SDHB, PAX8, EPM2A, ABCD1, ODC1, ACTG2, PCK1, NOP10, FKBP14, SKI, CCBE1, MMAB, GPI, PEX14, GNPTAB, RPS26, TREX1, FARS2, TSPYL1, COQ9, TNFRSF13B, TECPR2, CPT2, GP1BA, TBX18, ACTB, BBS12, SEMA3E, MOCS2, ABCB1, RAI1, DGUOK, CTHRC1, PHOX2B, ALPL, B3GLCT, TMEM237, PTDSS1, MRPL44, ASCC1, PNPO, HLA-B, ITGA2B, COQ4, BMP1, G6PC3, FGA, MYH7, NDUFS4, HADH, LRBA, UBE3B, IFT172, NDUFS2, IKBKAP, PTRF, USB1, DNAH8, NEK8, EOGT, DES, SPAG1, MT-CO3, NBN, SPRTN, GALNS, SLC30A2, PRF1, CDC73, MBTPS2, MEFV, TERC, DLD, DLL4, UGT1A4, MUTYH, PET100, TEK, CD79B, SLC37A4, CLCN7, IL2RG, KIF1A, OCRL, FIG4, MCM6, FGFR2, VAPB, RRM2B, TGFB2, DNAI2, SCN11A, PARK2, ALDOB, MAP2K2, TFAP2A, PIGM, NDUFAF1, MPI, ALG6, SLC34A3, CRLF1, VWF, PKLR, MYCN, COX6B1, BAX, ATXN8OS, CBS, ZEB1, HLA-DRB1, AMACR, P3H1, POLG, CHUK, IRX5, SNIP1, SLC39A4, AFF4, CA12, GTPBP3, AUTS2, XYLT2, DHFR, GK, KMT2C, EARS2, PSEN1, CD247, CIDEC, MRPS16, RHAG, LRP5, NRAS, KAT6B, MTO1, TCIRG1, GMPPB, CD27, CACNA1A, SPECC1L, CCDC28B, SF3B4, ALG3, WDPCP, NLRC4, ACTA2, AICDA, NLRP5, BOLA3, RMRP, GPHN, ARNT2, UTP4, UQCC3, MCCC1, KAT6A, LAMB3, SLC26A3, SUGCT, NCF1, STIM1, CALR, PDGFRL, MYO5B, NDUFB3, FOLR1, MYOT, MT-ATP6, CTNNB1, MT-TL1, ALG1, HBG2, DNAJB6, SLC30A10, SMAD9, VAMP1, UBR1, G6PD, CYP27B1, SLC52A2, SC5D, TXNL4A, RFT1, GRIP1, NFKB2, LRP2, TGDS, TMEM70, CTRC, POMC, ASXL3, BMP2, GAA, HRAS, HMGCL, NDN, BBS10, SMC1A, SIK1, KANSL1, PCSK1, HPS1, NPHP3, FGFR1, SMARCE1, NAGLU, ATXN1, AXIN2, ETFA, FAM111B, TSEN54, COG4, SLC16A2, CLDN16, VRK1, TWIST2, SLC52A1, MTR, TCTN2, NME1, FBN2, SNCA, NIPBL, SLC2A10, OPTN, SARS2, PRKCG, FOXRED1, WDR19, PRSS1, VPS13B, PTPRJ, NAGS, KCNH1, ANTXR1, UNC13D, PLP1, ITGA6, KIT, XIAP, SCYL1, IVD, IFT140, OTC, VDR, PEX1, SH2B3, F9, TUBB4A, CHRNE, VPS45, C21orf59, IRGM, MTFMT, HYDIN, PPP2R5D, ALDH6A1, ACVRL1, OXCT1, PAX3, PACS1, ARID1A, ASXL1, DNMT3A, RMND1, PNKD, TGFB1, MRPS22, PEPD, ACAT1, GATA6, COLQ, KMT2D, CFTR, EIF2AK3, IDS, STAT1, IFT43, SPTB, SLC52A3, CYC1, MUT, RFX5, RECQL4, MBD5, NOS3, PLG, HYLS1, SLC12A3, UBE3A, SQSTM1, FRAS1, NDUFB9, NDUFA2, SERAC1, MT-TQ, VPS13A, WDR60, PIK3R1, PEX10, SHMT1, OFD1, COLEC11, PCNA, BDNF, ATP1A3, PTF1A, AGA, CTLA4, KIF1BP, VPS35, PEX16, GDNF, TMEM67, AP2S1, STRA6, APOPT1, ADA, ATXN7, EPOR, SMAD3, IKBKB, SLC25A20, ADAM17, HSPG2, TNF, FCGR2A, SURF1, C10orf2, GPD1, SOX10, SATB2, KLHL40, PLCB4, MSR1, DCHS1, MCM4, DDX59, F2, TNFRSF1A, TSEN2, CD3D, UGT1A1, CASP10, LCT, LRP4, SALL1, TPI1, RAD21, ATXN10, IFIH1, FAS, FUCA1, CYP27A1, RNASEH2C, HEXB, CEP164, NRXN1, RSPH3, CAV1, ATP6V1B2, AGT, IGKC, EIF4A3, GNAI3, MT-TK, MTHFR, NOTCH3, PPP1R3A, UBQLN2, WDR35, GALT, DNAH5, ALG11, PCK2, CLDN1, WNT5A, CTC1, SHANK3, NEB, ECE1, STK11, AR, BBIP1, LIPE, IGHM, IL21R, CDKN1C, SETX, LMBRD1, ARX, KRT8, FBP1, KAT5, MMP1, BBS2, COX8A, PIK3CA, KCND3, NPC1, LTBP4, ST3GAL5, BMPER, DNAI1, HNRNPA1, ABCA1, SBDS, LZTFL1, TBK1, GPIHBP1, HK1, PRKAG2, MCC, COL2A1, ACOX1, CCDC151, MUSK, NUBPL, ACTA1, NECAP1, NPHS1, SRD5A3, RIN2, LRIG2, GBE1, IL1B, SCNN1G, NDUFAF6, EGFR, CDKL5, FAM134B, ABCB11, ARMC4, GPC3, PSMB8, IGF2, FERMT3, CLUAP1, FMO3, F5, GFRA1, XYLT1, DCLRE1C, NR1I3, MAPT, NDUFA12, NCF2, IL21, PODXL, NPC2, SCNN1A, THPO, CEL, ATP6V0A4, LMNA, COL1A2, HNRNPK, GFM1, HADHA, PLOD1, ARG1, NDUFAF4, LYZ, SNCAIP, MET, NFKBIA, ACAD9, CHCHD10, PNPLA8, GMPPA, TTC8, MPC1, GLIS3, SERPING1, PRICKLE2, DSE, SNX10, ABCG8, DHODH, DPYD, ADAMTS2, OCLN, BBS7, MLH1, GUCY2C, MEGF8, SLC7A7, FGB, GP9, SLC25A13, COX14, RPS6KA3, WAS, ERCC8, CLCF1, TBX1, G6PC, ACD, DNM1L, TMEM165, BSCL2, PCCB, COL7A1, WNT3, FASLG, DIS3L2, RPSA, ITGB4, SETBP1, DDHD2, PPARG, GNMT, AMHR2, SFTPA1, C15orf41, SERPINH1, ACSF3, COL5A1, SDHD, SLC22A5, SLC25A19, PRKCSH, TREH, OPLAH, TJP2, TLR2, NEFH, CNTN1, PEX6, VHL, ACP2, HNF4A, RAPSN, SMARCAL1, LTBP2, CLCN1, PPOX, ITGB2, STT3B, CYBA, POLR3A, COX20, CYBB, UROD, DNAAF3, KLF1, AIMP1, COL3A1, FBN1, THBS4, PABPN1, GUCY1A3, MT-ND1, DCTN1, PTS, CHMP2B, SCN1A, ORC4, DBT, PRDM5, TINF2, RAD51C, HNF1A, TSHB, RPS19, H19, PTEN, ALMS1, ABCD3, RFXAP, POLG2, TNNT2, CFH, DST, PTPRZ1, CHRND, STAT3, EHMT1, GDF2, SH2D1A, FAH, FADD, PURA, NDUFS3, PGM1, HSD17B4, CCNO, SDHA, MCEE, SLC29A3, SMARCB1, HDAC8, BAAT, CHEK2, ASL, TLR4, ATP8B1, MT-ND4, PUF60, BCL10, PRNP, AHNAK, PANK2, JAK3, TBP, AIRE, ATP7A, AP3B1, COL11A1, ABCG5, ERCC4, BBS5, DKC1, NEK1, SAMHD1, TCF4, TYMP, SERPINA1, FSHR, AKR1D1, MOCS1, POLE, SLC25A1, RBCK1, CREBBP, TIMM8A, C12orf65, GBA, SP110, ABCC9, DRC1, INS, STX11, TRH, CLASP1, PIGV, BBS9, TARS2, TCN2, PSAT1, UPB1, EDNRB, FASTKD2, CISD2, C4B, NDUFAF5, CEP19, BPGM, AGPAT2, ZAP70, MPLKIP, CASP8, MT-CO1, TRIM37, NARS2, TUFM, ALG13, NSD1, CFC1, SRCAP, BRCA2, NDUFS8, HLCS, ZFYVE26, CD96, SMAD7, COL1A1, DNAJC19, PRPH, CHRNG, CCDC103, ANKS6, NDUFA11, FAN1, PIGT, DDC, CDT1, RTEL1, SLCO1B3, TBX3, RNASEH1, PKHD1, SLCO1B1, MUC5B, TFR2, ACVR2B, FAM111A, AGL, SMPD1, HIBCH, COG6, SLC11A2, VANGL1, GP1BB, ELN, SLC35A2, BTK, BLVRA, MAN2B1, MT-TS2, KCNN4, SLC2A2, RAB3GAP2, PEX3, EFEMP2, MASP2, SDHC, STEAP3, ITGB3, SUFU, MPV17, PLA2G6, ALG2, IDUA, TRIM32, ADH1C, NEUROG3, SIX3, NDUFV1, SNAI2, COL13A1, RFX6, PDP1, RSPH1, PIGO, WFS1, FGG, POU1F1, MSH2, HLA-DQA1, ABHD5, DNMT3B, ATP6V0A2, MATR3, FGD1, IL10RB, PTCH1, MLH3, PRSS2, CHD7, CECR1, FBLN5, NLRP12, TP53, TRIM28, ABCA12, FLCN, GSC, MTTP, NOTCH2, GLUD2, LYST, CHST14, CDAN1, ZHX2, CPOX, LMNB1, CD3G, DNAL1, TMCO1, TPM3, SUCLG1, EPHX1, ERCC2, MID1, TARDBP, PKD1, COG8, NHLRC1, XRCC4, PTCH2, CPT1A, BCKDHA, SCO1, MEGF10, COL11A2, KRT18, ABCC2, CCDC114, IL6, ASS1, MT-TD, CD40LG, ELOVL4, SALL4, ZIC3, DVL1, PDGFRA, MPZ, ASCL1, SLC4A1, SMCHD1, AP1S1, GCDH, L1CAM, TNFRSF4, SLC19A2, ARL6, NR3C2, EYA1, PLOD2, FOXF1, NFIX, ACADVL, CTNS, CYP24A1, ZMYND10, PTPRC, SPATA5, ABCC8, IFNGR1, PITX2, CEP83, PLIN1, LARS, TTR, RET, KCNJ11, KCNK9, IL7R, CFHR3, DPM2, TTC21B, MYH3, SLC9A6, RPS28, SYT14, PFN1, KCNQ1OT1, CFAP53, MVK, ATPAF2, TGFB3, MT-ND3, CASR, APC, GCK, MTUS1, KIF1B, DPM3, RPGRIP1L, FOXP3, POLR2F, SIX1, FOXG1, IFT122, PEX26, UROS, KRAS, GALE, HADHB, EXT2, NDUFS1, MRPL3, IL36RN, DTNBP1, KDR, SPINK5, MED12, SEC63, EXOSC3, NDUFS6, MED17, ICOS, CEP120, ABCC6, POMT1, RAG1, SLC10A2, STXBP2, AKT1, MAGEL2, JAG1, ARSB, ATP7B, RNF125, PIGN, RAG2, ACADM, NKX2-5, CFHR1, CHRM3, DDOST, INPPL1, HGSNAT, LYRM4, GJB1, GUSB, SUMF1, NHP2, SCO2, LCK, CSF3R, GUCY2D, FLNA, DNAJC13, BIN1, RAB23, COQ2, HCCS, SEC23B, DPYS, ALDH18A1, ATXN2, KIAA0196, DHCR7, HPCA, HBA1, AMH, GLB1, SPG11, QDPR, ETFB, ESR1, GRHL2, INSR, GALC, CARD11, PLA2G2A, IL10RA, SCN9A, NDUFV2, CEP57, MNX1, CPS1, CCND1, ITCH, ZNF592, RNASEH2A, PLCG2, NBEAL2, SLC16A1, FREM2, LIFR, GLA, GCH1, MYH8, PIEZO1, MT-ND5, BBS4, TACO1, DPAGT1, GDF1, SLC19A3, PEX19, NTF3, PNP, HFE, FGF20, DCC, HMOX1, BBS1, RARS2, TTC37, MPDU1, FAT3, DLC1, SAR1B, MYH11, TRMU, PEX2, MMAA, EXOC8, CR2, FECH, PDX1, HSD3B7, MTRR, COX10, PORCN, ARSA, FTO, NDUFA10