ABDOMEN

IMMUNODEFICIENCY 19, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ?DYSTONIA, JUVENILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 22

LCK, HLA-DQB1, HLA-DQA1, CD3G, ITK, CD3D, ZAP70, HLA-DRB1, CD3E, WAS, ACTB

IMMUNODEFICIENCY 19, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {CELIAC DISEASE, SUSCEPTIBILITY TO}

LCK, HLA-DQB1, CD3G, CD3D, HLA-DRB1, STAT1, CD3E, HLA-DQA1

IMMUNODEFICIENCY 19, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}

LCK, HLA-DRB1, CD3G, CD3D, ZAP70, HLA-DQB1, CD3E, HLA-DQA1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ADAMS-OLIVER SYNDROME 5, LOEYS-DIETZ SYNDROME 2, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GELEOPHYSIC DYSPLASIA 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, LOEYS-DIETZ SYNDROME 5, BLEEDING DISORDER, PLATELET-TYPE, 17, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BECKWITH-WIEDEMANN SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, GLANZMANN THROMBASTHENIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ALAGILLE SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC

ITGB3, FBLN5, PLAU, SMAD4, TGFB1, NOTCH1, TGFB3, BMP2, LTBP2, FBN2, CDKN1C, FBN1, COL1A1, UBQLN2, LTBP4, EGFR, BMPER, GFI1B, JAG1, TGFBR2, EFEMP2, KDR

GLYCOGEN STORAGE DISEASE IV, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, GLYCOGEN STORAGE DISEASE VI, GLYCOGEN STORAGE DISEASE II, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, FRUCTOSE INTOLERANCE, GLYCOGEN STORAGE DISEASE IXC, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PYRUVATE KINASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, CITRULLINEMIA, ADULT-ONSET TYPE II, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, GLYCOGEN STORAGE DISEASE 0, MUSCLE, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, OPSISMODYSPLASIA, GLYCOGEN STORAGE DISEASE XII, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE VII, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA

NCF1, ALDOA, AGL, GBE1, ALDOB, PHKB, SMAD4, PHKA2, SPATA5, PYGL, PHKG2, PGM1, PKLR, GYS1, PCK1, NHLRC1, LIPE, INPPL1, EPM2A, SLC25A1, FBP1, PFKM, HK1, SLC25A13, GAA, INS, PC, GCK

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEUKODYSTROPHY, HYPOMYELINATING, 4, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GREENBERG SKELETAL DYSPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, D-2-HYDROXYGLUTARIC ACIDURIA, PARKINSON DISEASE 1, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, RUBINSTEIN-TAYBI SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MULTIPLE ENDOCRINE NEOPLASIA 1, ?REYNOLDS SYNDROME, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, COFFIN-LOWRY SYNDROME, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, SMITH-LEMLI-OPITZ SYNDROME, PROTEUS SYNDROME, SOMATIC, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

NDUFS3, NDUFA11, SUCLA2, NDUFB3, NDUFAF3, NDUFAF6, LBR, SMAD4, MT-ND6, MT-ND4, DHCR7, NOS3, NDUFAF2, SLC16A1, NDUFA1, LEP, HSPD1, NDUFS7, PPARG, HMGCS2, MT-CO2, D2HGDH, SDHB, SCO1, SNCA, NDUFS4, NDUFV2, SUCLG1, NDUFB9, COX20, NDUFS1, NDUFAF4, LRPPRC, COX6B1, PDP1, FH, SDHC, MT-ND1, AXIN1, TACO1, SCO2, MEN1, EP300, NDUFS2, MT-CO3, MT-ND5, AKT1, WNK1, NDUFS6, NDUFAF5, HSPA9, DLD, COX8A, NDUFV1, MPC1, COX14, RPS6KA3, ESR1, DDOST, UQCRB, INS, MT-ND3, CYC1, MT-CO1

MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IH/S, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS IVA, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS, MPS-III-A, NON-IMMUNE HYDROPS FETALIS

SGSH, ARSB, GLB1, NAGLU, GNS, GUSB, HGSNAT, NEU1, IDUA, IDS, GALNS

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, COPROPORPHYRIA, HARDEROPORPHYRIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, HYPERBILIVERDINEMIA, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9

HMBS, FECH, MRPL3, PPOX, ALAS2, CPOX, UROD, COX15, BLVRA, INS, UROS, HSPD1, ALAD, COX10

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, COPROPORPHYRIA, HARDEROPORPHYRIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}

HMBS, FECH, ALAS2, CPOX, UROD, COX15, PPOX, UROS, HSPD1, ALAD, COX10

NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, TRIGONOCEPHALY 1, ?DYSTONIA, JUVENILE-ONSET, PARKINSON DISEASE 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, GLANZMANN THROMBASTHENIA, ?IMMUNODEFICIENCY 22, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PROTEUS SYNDROME, SOMATIC

LCK, FGA, NRAS, KRAS, F2, ITGB3, FGG, ACTB, FGFR1, NCF1, MAP2K2, FGB, AGT, SNCA, BRAF, ITGA2B, AKT1, HRAS

AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPOBETALIPOPROTEINEMIA, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}

STAT1, PSMB8, APOB, CD3E, HLA-B, CIITA

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HERMANSKY-PUDLAK SYNDROME 1, SPHEROCYTOSIS, TYPE 1, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MISMATCH REPAIR CANCER 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, FEINGOLD SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ?IMMUNODEFICIENCY 22, SPHEROCYTOSIS, TYPE 2, CRANIOFRONTONASAL DYSPLASIA, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, STRIATONIGRAL DEGENERATION, INFANTILE, SADDAN, AXENFELD-RIEGER SYNDROME, TYPE 1, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ARGININEMIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, EVEN-PLUS SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, PRADER-WILLI SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, ?DYSTONIA, JUVENILE-ONSET, COMMON VARIABLE IMMUNODEFICIENCY 1, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, IMMUNODEFICIENCY, COMMON VARIABLE, 2, OPITZ GBBB SYNDROME, TYPE I, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AGAMMAGLOBULINEMIA 6, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, AGAMMAGLOBULINEMIA 4, CLOVE SYNDROME, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MUIR-TORRE SYNDROME, GLANZMANN THROMBASTHENIA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, NOONAN SYNDROME 7, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, LYMPHOPROLIFERATIVE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, WISKOTT-ALDRICH SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HERMANSKY-PUDLAK SYNDROME 7, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

F2, FGFR1, WNT5A, TNFRSF13B, COL1A1, MID1, ACTB, FAS, SQSTM1, CIITA, PSEN1, ANK1, MLH1, AGT, IGKC, EIF4A3, PPARG, UBQLN2, CDC6, GJA1, APC, FGA, AICDA, CASP8, MMP1, SEC23A, NFKBIA, PIK3CA, NCF4, PRF1, FGG, TGFBR2, CREBBP, CD79B, HLA-DQA1, IL2RG, CTNNB1, SF3B4, ACTA1, SHOC2, FGFR3, PLEC, NFKB2, MAP2K2, EGFR, TBK1, NME1, IRAK3, IGF2, NOS3, THRA, TNF, EDNRA, CD3E, LEP, PIK3CD, CD27, ESR1, SMARCE1, CCND1, JAK2, HLA-DRB1, AAAS, DVL1, EP300, HSPD1, TNFRSF1A, KRAS, ITK, BDNF, RPS6KA3, WAS, BRAF, INS, ARG1, GATA1, NCF1, TTR, ITGB3, IL7R, IL2RA, BLNK, SMAD4, DVL3, MYCN, FGB, UBR1, CD40LG, GMPPB, CTLA4, PCK1, VHL, NUP62, RAPSN, HES7, FGF20, NDN, AKT1, SMARCA4, INPPL1, CFTR, PARK2, TP53, HLA-DQB1, IKBKB, PLAU, EZH2, ITGA2B, SNCA, PSMB8, HSPA9, EFNB1, MUSK, IL1RN, NOD2, BTK, KIT, LCK, NRAS, AR, FLNA, ZAP70, PRKCD, HNRNPK, TGFB1, TNFAIP3, DTNBP1, SPG7, BCL10, STAT1, STAT3, PCNA, SAMHD1, ATXN1, INSR, HLA-B, NOTCH1, FADD, PITX2, FGFR2, IL6, JAK3, PDGFRA, L1CAM, STX11, ADAM17, FOXF1, HRAS, FASLG, ATXN3, EPOR, SMAD3, HSPG2, SPTB, KDR, PIK3R1

BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, DIAPHANOSPONDYLODYSOSTOSIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, FEINGOLD SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LOEYS-DIETZ SYNDROME 3, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PITT-HOPKINS-LIKE SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, WAARDENBURG SYNDROME, TYPE 4C, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, POLYCYTHEMIA VERA, SOMATIC, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, ALAGILLE SYNDROME, TRYPSINOGEN DEFICIENCY, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 5, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMED STRUDWICK TYPE, GLANZMANN THROMBASTHENIA, MYASTHENIC SYNDROME, CONGENITAL, 19, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, HYPOBETALIPOPROTEINEMIA, AGAMMAGLOBULINEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, APERT SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, PROTEUS SYNDROME, SOMATIC

F2, APOB, COL1A1, RAD21, CIITA, COL3A1, NRXN1, AGT, COL11A2, COL5A1, SNCA, ITGA2B, WNT5A, SOX10, FGA, DST, MMP1, DNM2, PIK3CA, LTBP4, EFEMP2, BMPER, GFI1B, JAG1, FGG, TGFBR2, COL13A1, COL2A1, MUSK, FBLN5, PLAU, AR, IGF2, CD79A, NOS3, MYCN, SPINT2, TNF, LEP, PSEN1, PLOD1, CCND1, JAK2, BMP1, ADAMTS2, STAT3, BRAF, INS, JAM3, COL7A1, FASLG, TTR, ITGB3, CTNNB1, SMAD4, DVL3, FGB, CD40LG, TGFB3, VHL, BMP2, LTBP2, AKT1, PLEC, DVL1, ATXN1, TP53, LRP2, FBN1, FBN2, UBQLN2, CDKN1C, PRSS1, TNXB, ITGA6, LRP4, LCK, FLNA, SMAD3, PRKCD, LAMA2, TGFB1, COL5A2, TBP, COL11A1, ITGB4, NOTCH1, PLG, SERPINH1, FGFR2, IL6, L1CAM, ADAM17, PTEN, EGFR, MYH11, HSPG2, ACVR1B, KDR, HFE, PIK3R1

VERHEIJ SYNDROME, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, BARTTER SYNDROME, TYPE 2, SUPRANUCLEAR PALSY, PROGRESSIVE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, 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, MULTIPLE SULFATASE DEFICIENCY, GLUTARICACIDURIA, TYPE I, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, SICKLE CELL ANEMIA, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, BILE ACID MALABSORPTION, PRIMARY, MULTIPLE ENDOCRINE NEOPLASIA 1, GAUCHER DISEASE, TYPE IIIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADAMS-OLIVER SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, HYPERCHLORHIDROSIS, ISOLATED, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PEUTZ-JEGHERS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, FLOATING-HARBOR SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HYPERBILIVERDINEMIA, PRADER-WILLI SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, MUCOPOLYSACCHARIDOSIS TYPE IIID, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, WAARDENBURG SYNDROME, TYPE 4C, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ARTS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS VII, CILIARY DYSKINESIA, PRIMARY, 6, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, HYPER-IGD SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, MECONIUM ILEUS, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MALONYL-COA DECARBOXYLASE DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, HMG-COA SYNTHASE-2 DEFICIENCY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CPT DEFICIENCY, HEPATIC, TYPE II, COENZYME Q10 DEFICIENCY, PRIMARY, 3, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, NOONAN SYNDROME 7, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, UROFACIAL SYNDROME 1, ?DIARRHEA 7, CHEDIAK-HIGASHI SYNDROME, COLE DISEASE, 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, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, 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, NON-IMMUNE HYDROPS FETALIS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, MEDNIK SYNDROME, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, MYOTONIC DYSTROPHY 1, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, ?REYNOLDS SYNDROME, GLANZMANN THROMBASTHENIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, FARBER LIPOGRANULOMATOSIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, TYROSINEMIA, TYPE III, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, SHPRINTZEN-GOLDBERG SYNDROME, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OMODYSPLASIA 1, PERIODIC FEVER, FAMILIAL, CUTIS LAXA, AUTOSOMAL DOMINANT 3, DIAMOND-BLACKFAN ANEMIA 8, CORNELIA DE LANGE SYNDROME 4, DYSKERATOSIS CONGENITA, X-LINKED, OCCIPITAL HORN SYNDROME, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, COFFIN-SIRIS SYNDROME 3, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ALPHA-METHYLACETOACETIC ACIDURIA, ACHONDROGENESIS IB, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, COFFIN-LOWRY SYNDROME, GAUCHER DISEASE, TYPE I, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, DIHYDROPYRIMIDINURIA, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, LACTASE DEFICIENCY, CONGENITAL, EVEN-PLUS SYNDROME, CHANARIN-DORFMAN SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 5, FRUCTOSE INTOLERANCE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SPINOCEREBELLAR ATAXIA 1, LACTASE PERSISTENCE/NONPERSISTENCE, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, RENAL TUBULAR ACIDOSIS, DISTAL, AR, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, ALAGILLE SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, ?IMMUNODEFICIENCY 22, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, KRABBE DISEASE, ROBINOW SYNDROME, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PYRUVATE CARBOXYLASE DEFICIENCY, GALLBLADDER DISEASE 1, LESCH-NYHAN SYNDROME, HYPOBETALIPOPROTEINEMIA, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, GLYCOGEN STORAGE DISEASE 0, MUSCLE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CPT II DEFICIENCY, LETHAL NEONATAL, ISOVALERIC ACIDEMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, GAUCHER DISEASE, TYPE II, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, SPHEROCYTOSIS, TYPE 4, DIARRHEA 6, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, WAARDENBURG SYNDROME, TYPE 4A, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, BETA-UREIDOPROPIONASE DEFICIENCY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), PCWH SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, SITOSTEROLEMIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), LEPRECHAUNISM, SPLENIC HYPOPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TRANSCOBALAMIN II DEFICIENCY, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, LOEYS-DIETZ SYNDROME 3, YUNIS-VARON SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, CHYLOMICRON RETENTION DISEASE, OHDO SYNDROME, X-LINKED, HYPERLIPOPROTEINEMIA, TYPE IB, COMBINED SAP DEFICIENCY, TYROSINEMIA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, WOLFRAM SYNDROME 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MILLER SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, GLYCOGEN STORAGE DISEASE IXC, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, VISCERAL MYOPATHY, CRYOHYDROCYTOSIS, TRYPSINOGEN DEFICIENCY, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CITRULLINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CORNELIA DE LANGE SYNDROME 1, 5-OXOPROLINASE DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, NEPHRONOPHTHISIS 15, OPITZ-KAVEGGIA SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLOPROSENCEPHALY 11, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SMED STRUDWICK TYPE, D-2-HYDROXYGLUTARIC ACIDURIA, ASPARAGINE SYNTHETASE DEFICIENCY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, PANCREATIC LIPASE DEFICIENCY, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, INTERSTITIAL LUNG AND LIVER DISEASE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, TRANSALDOLASE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, CORNELIA DE LANGE SYNDROME 3, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BURN-MCKEOWN SYNDROME, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, TRIGONOCEPHALY 1, SMITH-LEMLI-OPITZ SYNDROME, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, LEUKODYSTROPHY, HYPOMYELINATING, 4, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 7, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OCULODENTODIGITAL DYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PYRUVATE KINASE DEFICIENCY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MULTIPLE ENDOCRINE NEOPLASIA IIA, MUCOPOLYSACCHARIDOSIS II, GLUCOSE/GALACTOSE MALABSORPTION, CITRULLINEMIA, ADULT-ONSET TYPE II, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SOTOS SYNDROME 2, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ARGININEMIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, THYROID DYSHORMONOGENESIS 1, ETHYLMALONIC ENCEPHALOPATHY, HYPEREKPLEXIA HEREDITARY, WEAVER SYNDROME, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, LOWE SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, GLYCOGEN STORAGE DISEASE II, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, KNIEST DYSPLASIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XIII, GAUCHER DISEASE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LATHOSTEROLOSIS, CHILD SYNDROME, METACHROMATIC LEUKODYSTROPHY, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, GALACTOSEMIA, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ABETALIPOPROTEINEMIA, CODAS SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, FOLATE MALABSORPTION, HEREDITARY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MECKEL SYNDROME 4, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MOLYBDENUM COFACTOR DEFICIENCY B, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DENT DISEASE 2, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

UROD, FECH, HBB, FGFR1, SLC5A5, TSC2, BCKDHB, ACADS, LBR, GNAS, CIITA, GUSB, ENPP1, POLD1, ETHE1, COLQ, NSDHL, DST, TERT, FH, SEC23A, G6PC, NCF4, POR, TGFBR2, HPSE2, CREBBP, RPS7, PHKB, SOX2, APOA1, NDUFAF3, PHKA2, ABCD3, AR, IDS, SHMT1, ASAH1, MT-ND6, TAF6, BTD, PIK3CD, MT-CO2, ALAD, PYCR1, KCNJ1, TALDO1, JAK2, GPC6, SUCLA2, AAAS, SGSH, CNTN5, BMP1, HSPD1, ABCD4, TNNT2, GPD1, SUCLG1, AHI1, SMC3, ARG1, MT-CO1, PPP1R15B, ALDOA, AGL, CTNNB1, PRPS1, NDUFS3, SUFU, SMAD4, DVL3, CHST14, SLC4A1, CEP290, NDUFAF2, TPM2, SLC2A1, SLC19A2, PCK1, SLC6A3, NUP62, SSR4, MMACHC, INPPL1, LRPPRC, HDAC8, SLC5A1, UBE3A, ABCB4, COX15, HNRNPK, EZH2, GALC, SLC19A1, PEX13, HSPA9, MMAA, MTM1, ADK, POLA1, HMBS, LRP5, GIF, PINK1, SLC46A1, SRCAP, HPD, DMPK, GPHN, NR4A2, D2HGDH, NDUFS4, PCCA, DPYS, SLC6A8, CHAT, CUBN, LIPA, DGAT1, POLR3B, PDSS2, PNPLA2, SDHB, EPM2A, HADHB, NDUFS2, PEX14, MLYCD, APOB, MMP1, CPT2, NHLRC1, ACTB, MOCS2, DGUOK, PCCB, PTDSS1, WNK1, TSR2, MCCC2, NDUFB3, IDUA, FGA, BAAT, HADH, SLC25A1, DES, MT-CO3, GALNS, CDC73, GFI1B, DLD, RRM2B, OCRL, FIG4, SHOC2, DDC, CYP7B1, ALDOB, PLAU, ADCY6, NME1, PYGL, NOTCH1, SLC19A3, SMAD9, AMACR, UPB1, CA12, FSHR, EARS2, SC5D, RHAG, MEN1, GDNF, STAT3, HMGCS2, BRAF, SLC26A3, SLC35A2, AMN, NCF1, ALPL, SLC2A2, MMAB, CBS, CTCF, UBR1, CYP27B1, ARL2BP, GMPPB, BMP2, HRAS, NDN, PAM16, SMC1A, GBE1, TXNL4A, VDR, DVL1, PARK2, COQ9, LRP2, ITPA, SNCA, HK1, PRSS1, QDPR, ABCB11, NME8, ITGA6, MT-ND3, IVD, NDUFV1, OTC, SLC26A2, PTS, B3GAT3, TGFB1, TYMP, GATA6, NAGLU, MTR, SLC52A3, ATXN1, SCO1, PLG, TP53, NDUFB9, IL6, THRA, PCNA, KIF1BP, SLC10A2, ADA, EPOR, SMAD3, SLC25A20, HSPG2, TNF, ESR1, C10orf2, LMNA, F2, TNFRSF1A, LCT, RAD21, GAA, SQSTM1, ANK1, CYP11B2, NDUFA1, AGT, LEP, MTHFR, ERCC8, KMT2A, MCM6, STK11, LIPE, ARSB, PDP1, FBP1, PIK3CA, ABCD1, JAG1, HADHA, COX8A, TBK1, PRKAG2, COL2A1, NFIX, NUBPL, ACTA1, GRIP1, SMARCA4, CASP8, NDUFAF6, EGFR, COQ4, GPC3, NDUFAF4, PGM1, NOS3, CCND1, MAPT, CAD, CHRM3, ALDH6A1, MET, GALT, ABCA1, PSMB8, HGSNAT, SNCAIP, CEL, NFKBIA, SLC25A13, GLIS3, PFKM, ABCG8, DHODH, DPYD, GUCY2C, MPC1, COX14, PANK2, DKC1, INS, CDON, SLCO1B3, PPARG, SMPD1, SLC22A5, G6PC3, SHANK3, STAT1, CNTN1, VHL, HNF4A, CEP164, FKBP14, PPOX, PSAP, COQ2, MT-ND1, RPSA, DBT, MCCC1, TSHB, PTEN, MTTP, SOX10, ALAS2, FAH, SERPINC1, MCEE, SMARCB1, PRKCD, MYH7, DHCR7, MT-ND4, PUF60, PHKG2, PRKCSH, RPS6KA3, TBP, ATP7A, ABCG5, APOC2, POLE, UQCRB, GBA, ZHX2, ABCC9, FTH1, ACD, STX11, TCN2, MOCS1, EDNRB, CISD2, NDUFAF5, AGPAT2, TINF2, DHFR, PNLIP, MARS2, HLCS, OPLAH, COL1A1, ACOX1, NDUFA11, DNM2, ITGB3, SLCO1B1, ACAT1, HIBCH, HPRT1, BTK, COX6B1, PNPO, CLASP1, SDHC, SCO2, NEU1, COQ7, COX20, AFG3L2, ERCC2, ABCC2, ABHD5, ASNS, FBLN5, NKX2-5, GLUD2, LYST, CPOX, LMNB1, AKR1D1, ARSA, TARDBP, CPT1A, BCKDHA, LONP1, MRPL44, ASS1, CD40LG, ELOVL4, EP300, SLC25A15, AP1S1, MBTPS2, GCDH, RTEL1, GNS, ACADVL, TRIM32, CYP24A1, SPATA5, ABCC8, NDUFS7, PLIN1, LARS, TTR, RET, KCNJ11, CACNA1G, GJA1, INPP5E, BCS1L, MVK, CASR, GCK, FOXP3, UROS, KRAS, GALE, NDUFS1, MRPL3, CFTR, MED12, GYS1, SEC63, NDUFS6, MED17, AKT1, PSAT1, SLC37A4, MUSK, ACADM, ADH1C, DDOST, AXIN1, LMBRD1, LYRM4, SUMF1, CYC1, LCK, NAGS, BIN1, HCCS, ALDH18A1, HSD17B4, ASL, HPCA, GLB1, EXT2, INSR, PKLR, BLVRA, NDUFV2, CPS1, FGFR2, PLCG2, HSD3B7, SLC16A1, MUT, MARS, GLA, GCH1, PDGFRA, L1CAM, MT-ND5, TACO1, PLA2G6, PEX19, PNP, MTRR, POLR2F, FASLG, SAR1B, MYH11, KDR, PC, COX10, RYR1, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, GALACTOSE EPIMERASE DEFICIENCY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), METHYLMALONIC ACIDURIA CBLB TYPE, OPITZ-KAVEGGIA SYNDROME, VLCAD DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, POLYCYSTIC LIVER DISEASE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CPT DEFICIENCY, HEPATIC, TYPE II, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, TRIFUNCTIONAL PROTEIN DEFICIENCY, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, ?DYSTONIA, JUVENILE-ONSET, SPLENIC HYPOPLASIA, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PYRUVATE KINASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, GALLBLADDER DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HYPOBETALIPOPROTEINEMIA, COENZYME Q10 DEFICIENCY, PRIMARY, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COFFIN-SIRIS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PEUTZ-JEGHERS SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, TANGIER DISEASE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LATHOSTEROLOSIS, ALPHA-METHYLACETOACETIC ACIDURIA, RUBINSTEIN-TAYBI SYNDROME 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, OPSISMODYSPLASIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, ?DIARRHEA 7, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CPT II DEFICIENCY, LETHAL NEONATAL, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, METHYLMALONYL-COA EPIMERASE DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, OHDO SYNDROME, X-LINKED, CHOROID PLEXUS PAPILLOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, PROTEUS SYNDROME, SOMATIC

NCF1, PEX14, ACTB, PPARG, SMARCA4, APOA1, HCCS, ACADS, SMAD4, INPPL1, ACOX1, SLC25A20, NME1, PRKCD, MCEE, NOS3, MMAA, HSPG2, CD40LG, SMARCB1, CCND1, AGT, NFKBIA, PCCB, STAT1, ACAT1, PRKAG2, NUP62, CREBBP, LEP, PKLR, PCCA, IL6, HADHA, APOB, CPS1, VDR, ESR1, GALE, STK11, HADH, THRA, MUT, PDSS2, MED12, SEC63, SC5D, ELOVL4, MED17, PCNA, HNF4A, EP300, PEX19, TP53, AKT1, HRAS, ABCB4, PEX13, DGAT1, ABCA1, GPD1, ACADM, NKX2-5, ACADVL, AGPAT2, CPT1A, TNF, CPT2, CFTR, HMGCS2, INS, SLC25A1, DHFR, HADHB, PIK3R1

CHYLOMICRON RETENTION DISEASE, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CRANIOLENTICULOSUTURAL DYSPLASIA

SAR1B, HLA-B, SEC23A

ADAMS-OLIVER SYNDROME 5, GALACTOSE EPIMERASE DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OMODYSPLASIA 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, GALACTOSEMIA, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, ?DYSTONIA, JUVENILE-ONSET, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ACHONDROGENESIS IB, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA

DPM1, GPC6, COL1A1, PIGA, MPI, PGM1, TGFB1, B3GAT3, NOS3, PMM2, MOGS, ALG3, ALG11, NOTCH1, GALT, SLC26A2, GALE, PIGC, ALG1, NEU1, DPM2, GPC3, ALG2, EGFR, MPDU1, GNE, ACTB, RFT1, HSPG2, EXT2, CHST14, ALG13

MCKUSICK-KAUFMAN SYNDROME, BARDET-BIEDL SYNDROME 10, BARDET-BIEDL SYNDROME 17, BARDET-BIEDL SYNDROME 8, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1

BBS5, BBS12, ARL6, BBS2, BBS9, BBIP1, BBS4, BBS7, LZTFL1, BBS10, MKKS, BBS1, TTC8

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, IMMUNODEFICIENCY 15, HETEROTAXY, VISCERAL, 5, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, GLYCOGEN STORAGE DISEASE VI, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, ADAMS-OLIVER SYNDROME 6, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, POLYCYTHEMIA VERA, SOMATIC, SPLENIC HYPOPLASIA, PYRUVATE CARBOXYLASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, INTERSTITIAL LUNG AND LIVER DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GLANZMANN THROMBASTHENIA, MEIER-GORLIN SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), SICKLE CELL ANEMIA, LACTASE PERSISTENCE/NONPERSISTENCE, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TRIGONOCEPHALY 1, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?IMMUNODEFICIENCY 22, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CORPUS CALLOSUM, PARTIAL AGENESIS OF, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, BARTTER SYNDROME, TYPE 2, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OMODYSPLASIA 1, LEPRECHAUNISM, MUCOPOLYSACCHARIDOSIS TYPE IIID, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CUTIS LAXA, AUTOSOMAL DOMINANT 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, DIAMOND-BLACKFAN ANEMIA 8, GALACTOSEMIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LOEYS-DIETZ SYNDROME 3, ANGELMAN SYNDROME, WRINKLY SKIN SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, MUCOPOLYSACCHARIDOSIS II, OVARIAN HYPERSTIMULATION SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, COFFIN-SIRIS SYNDROME 3, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, HYPERCALCEMIA, INFANTILE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ALPHA-METHYLACETOACETIC ACIDURIA, IMMUNODEFICIENCY 19, SADDAN, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS IH, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, CHOROID PLEXUS PAPILLOMA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, WEAVER SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CORNELIA DE LANGE SYNDROME 2, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, VITAMIN D-DEPENDENT RICKETS, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, BANNAYAN-RILEY-RUVALCABA SYNDROME, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, LACTASE DEFICIENCY, CONGENITAL, FRUCTOSE INTOLERANCE, ACHONDROGENESIS IB, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, ?DYSTONIA, JUVENILE-ONSET, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, METHYLMALONIC ACIDURIA CBLB TYPE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ALAGILLE SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, MUCOPOLYSACCHARIDOSIS VII, AGAMMAGLOBULINEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 1, ?MICROPHTHALMIA, SYNDROMIC 1, WISKOTT-ALDRICH SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, LATHOSTEROLOSIS, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CORNELIA DE LANGE SYNDROME 5, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, 5-OXOPROLINASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MEIER-GORLIN SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BIOTINIDASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, AMYOTROPHIC LATERAL SCLEROSIS 17, MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, CLOVE SYNDROME, SOMATIC, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, POLYCYSTIC LIVER DISEASE, OCULODENTODIGITAL DYSPLASIA, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CARDIOFACIOCUTANEOUS SYNDROME, HYALINE FIBROMATOSIS SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, EHLERS-DANLOS SYNDROME, TYPE IV, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, DIABETES INSIPIDUS, NEPHROGENIC, ?IMMUNODEFICIENCY 37, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPOBETALIPOPROTEINEMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DYSAUTONOMIA, FAMILIAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, SENIOR-LOKEN SYNDROME 9, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MUCOPOLYSACCHARIDOSIS IVA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, GALLBLADDER DISEASE 1, TRANSCOBALAMIN II DEFICIENCY, CODAS SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, GELEOPHYSIC DYSPLASIA 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, PEX14, EZH2, RPS26, HBB, CD3D, OPLAH, COL1A1, LCT, MAP2K2, NAA10, RAD21, NHLRC1, PABPN1, FAS, GNAS, SC5D, CIITA, RPS7, COL3A1, SMARCA4, EFTUD2, NDUFS2, FTL, F2, GUSB, AGT, PCCB, MCM6, ACAT1, TAF6, MRPL44, SOX2, ALG3, HIBCH, NCF4, BTD, MCCC2, APOB, IDUA, FGA, PIGC, GALE, PIK3CD, AMER1, ALG1, IGHM, WNK1, MCCC1, ERCC6, IKBKAP, PPP1R15B, PNPT1, NEU1, PIK3CA, GALT, GALNS, NOTCH3, CDC73, ERCC2, AFG3L2, TGFBR2, SALL1, TBK1, GNE, LONP1, COL2A1, ATP6V0A2, SF3B4, MUSK, NUBPL, AMN, SHOC2, ACTB, GRIP1, ABCC9, KRAS, GJA1, APOA1, ICOS, PLAU, EGFR, QDPR, CHMP1A, AR, MPI, SMARCE1, IGF2, ALDOB, IDS, SQSTM1, NOS3, CYP11B2, THRA, SMARCB1, CCND1, BUB1B, CBS, FGFR1, ACVRL1, CD3E, ANTXR2, CYBB, SCARB2, ALG11, PSEN1, AKT2, MT-CO2, GTF2H5, MARS2, ABCA1, JAK2, AXIN1, FSHR, PSMB8, HGSNAT, KCNJ1, MET, IL6, NFKBIA, GPC6, CD40LG, VPS33B, AVPR2, DVL1, MEN1, EP300, TGFB1, TAF1, ATP6V1B2, HSPD1, TNFRSF1A, FCGR2A, OCLN, AP1S1, CDT1, CASR, SMAD9, POLR3A, SCYL1, HLCS, ITK, AAAS, RPS6KA3, STAT3, KMT2A, NOTCH1, INS, CUBN, PMM2, WNT3, GATA1, ACTA1, NCF1, TTR, TCIRG1, GLB1, AGL, PPARG, TRAF3IP1, NDUFS3, MMAB, SERPINH1, CTNNB1, CNTN5, SMAD4, HNF4A, RPS28, CHST14, GNS, TCN2, CYP27B1, GYS1, CHRM3, GMPPB, CHD7, ALG2, LEP, CTLA4, NFKB2, VHL, NUP62, RAPSN, BMP2, FOXP3, FGF20, AKT1, CYBA, RPSA, SLC26A2, INPPL1, VDR, EXT2, WNT5A, MRPL3, CFTR, ATXN1, HDAC8, TP53, GFI1B, SEC63, LRP2, FBN1, NCF2, IKBKB, IGKC, HNRNPK, CHMP2B, PRKCD, MMACHC, POLD1, SMC1A, SNCA, JAG1, SGSH, TINF2, CDKN1C, MPDU1, HSPA9, HK1, PTEN, FGFR3, PIGA, ABCB11, NOD2, DDOST, BTK, LMBRD1, ANTXR1, KIT, CYP7B1, SUMF1, EPOR, AHI1, LCK, NRAS, PGM1, RFT1, FLNA, MOGS, GIF, FZD6, GAA, NODAL, NDUFS1, PTS, MUT, MTRR, DLL4, ABCD3, DPM1, POLR2F, B3GAT3, DNM2, CLDN1, PYGL, ARSB, CYP24A1, GATA6, TBP, LRPPRC, MTR, BCL10, STAT1, WAS, ORC1, PCNA, PARK2, INSR, DVL3, POR, C10orf2, PCCA, PITX2, MSH2, VAMP1, FGFR2, CREBBP, PACS1, KDR, LRP5, UBE3A, MARS, RPL11, PDGFRA, SCNN1A, L1CAM, BDNF, CLASP1, GPC3, NAGLU, CTCF, APC, PC, HRAS, PFKM, ABCB4, FASLG, STRA6, SPG7, SARS2, ADAM17, PORCN, POLR3B, SMAD3, DPM2, ALDH18A1, HSPG2, TNF, ESR1, ITGB3, ITGA6, EPM2A, HFE, ALG13, MMAA, PIK3R1

TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, METHYLMALONYL-COA EPIMERASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, PROTEUS SYNDROME, SOMATIC

MCEE, MMAA, PCCB, HADH, MUT, HADHB, ACADM, ACADVL, ACADS, PCCA, HADHA, AKT1

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, SUPRANUCLEAR PALSY, PROGRESSIVE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 4, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRYPSINOGEN DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, BROWN-VIALETTO-VAN LAERE SYNDROME 1, LEPRECHAUNISM, FOLATE MALABSORPTION, HEREDITARY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, TRANSCOBALAMIN II DEFICIENCY, DONNAI-BARROW SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PYRUVATE CARBOXYLASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, OCCIPITAL HORN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MOLYBDENUM COFACTOR DEFICIENCY A, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OPSISMODYSPLASIA, MOLYBDENUM COFACTOR DEFICIENCY B, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, CODAS SYNDROME, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), COLE DISEASE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, BIOTINIDASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CHOROID PLEXUS PAPILLOMA

AMN, ALPL, GIF, APOA1, MMAB, SLC46A1, MTRR, MTHFR, MOCS2, MAPT, SHMT1, SLC19A3, HLCS, ATP7A, ENPP1, CBS, PCCB, SLC52A3, INSR, ABCA1, BTD, MOCS1, PCCA, MCCC2, INPPL1, NDUFS1, SLC19A2, LONP1, C10orf2, SLC2A1, MUT, TP53, LRP2, TCN2, MMACHC, HSPD1, DHFR, PNPO, SLC19A1, MCCC1, ABCD4, MTR, CUBN, PRSS1, ABCD3, PANK2, GPHN, LMBRD1, PC, MMAA, HMGCS2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, GREENBERG SKELETAL DYSPLASIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PARKINSON DISEASE 1, ?REYNOLDS SYNDROME, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

NDUFS3, NDUFA11, NDUFB3, SCO2, NDUFAF6, MT-CO1, SMAD4, MT-ND6, MT-ND4, LBR, NDUFAF2, NDUFA1, NDUFS7, MT-CO2, SCO1, SNCA, NDUFS4, NDUFV2, NDUFB9, NDUFS1, NDUFAF4, LRPPRC, COX6B1, NDUFS6, SDHC, MT-ND1, TACO1, NDUFAF3, NDUFS2, MT-CO3, COX20, AKT1, WNK1, NDUFAF5, HSPA9, COX8A, MT-ND5, COX14, SDHB, DDOST, UQCRB, INS, MT-ND3, CYC1, NDUFV1

GLYCOGEN STORAGE DISEASE IV, MULTIPLE SULFATASE DEFICIENCY, GLYCOGEN STORAGE DISEASE VI, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, INTERSTITIAL LUNG AND LIVER DISEASE, TRANSALDOLASE DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NOONAN SYNDROME 7, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OMODYSPLASIA 1, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PYRUVATE KINASE DEFICIENCY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, MUCOPOLYSACCHARIDOSIS II, GLUCOSE/GALACTOSE MALABSORPTION, CITRULLINEMIA, ADULT-ONSET TYPE II, STRIATONIGRAL DEGENERATION, INFANTILE, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NON-IMMUNE HYDROPS FETALIS, LACTASE DEFICIENCY, CONGENITAL, GM1-GANGLIOSIDOSIS, TYPE I, GALACTOSE EPIMERASE DEFICIENCY, ARTS SYNDROME, GLYCOGEN STORAGE DISEASE II, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, FRUCTOSE INTOLERANCE, ACHONDROGENESIS IB, GLYCOGEN STORAGE DISEASE IA, GLYCOGEN STORAGE DISEASE IXC, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, KNIEST DYSPLASIA, MUCOPOLYSACCHARIDOSIS VII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, GLYCOGEN STORAGE DISEASE VII, GALACTOSEMIA, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MUCOPOLYSACCHARIDOSIS, MPS-III-A, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, SMED STRUDWICK TYPE, PYRUVATE CARBOXYLASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPOBETALIPOPROTEINEMIA, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, GLYCOGEN STORAGE DISEASE 0, MUSCLE, UROFACIAL SYNDROME 1, MUCOPOLYSACCHARIDOSIS IH/S, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IVA, PROTEUS SYNDROME, SOMATIC

NEU1, APOB, COL1A1, ALDOA, GUSB, GALNS, BTK, LCT, G6PC3, LIPE, NCF4, ARSB, CLASP1, FBP1, MARS2, G6PC, IDUA, NOTCH1, HPSE2, COL2A1, PHKB, GBE1, ALDOB, PHKA2, AR, PYGL, IDS, NOS3, TNF, FGFR1, LEP, GALT, HGSNAT, TALDO1, PFKM, CNTN5, SLC25A13, TSR2, BRAF, INS, GCK, FASLG, NCF1, SGSH, GLB1, AGL, SLC2A2, PRPS1, SMAD4, CHST14, GNS, GYS1, PCK1, NUP62, BMP2, AKT1, SLC26A2, INPPL1, NAGLU, SLC5A1, UBE3A, LRP2, SLC37A4, HK1, GALE, GAA, SUMF1, SLC2A1, B3GAT3, PHKG2, PGM1, TGFB1, NHLRC1, INSR, PKLR, PLG, SLC25A1, IL6, MARS, GPC3, EGFR, GPC6, AAAS, HSPG2, EXT2, EPM2A, PC

GALACTOSE EPIMERASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, GALACTOSEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, NON-IMMUNE HYDROPS FETALIS

DPM2, DPM1, GNE, PMM2, NEU1, MPI, GALT, PGM1, GALE

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LOEYS-DIETZ SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BECKWITH-WIEDEMANN SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, GLANZMANN THROMBASTHENIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ALAGILLE SYNDROME, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, BLEEDING DISORDER, PLATELET-TYPE, 17

ITGB3, FBLN5, PLAU, SMAD4, TGFB1, NOTCH1, TGFB3, AGT, BMP2, LTBP2, FBN2, CCND1, CDKN1C, FBN1, COL1A1, UBQLN2, LTBP4, EGFR, BMPER, GFI1B, JAG1, TGFBR2, EFEMP2, KDR

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, IMMUNODEFICIENCY 19, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}

LCK, HLA-DQB1, HLA-DQA1, CD3G, CD3D, HLA-DRB1, CD3E, PTPRC

HYPOBETALIPOPROTEINEMIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CHOROID PLEXUS PAPILLOMA

NCF1, PSMB8, ITGA6, CYBA, TNF, TP53, HLA-DRB1, STAT1, CD3E, ESR1, HLA-B, APOB, NCF2, INS, AKT1, CIITA, CYBB, NCF4

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, TRYPSINOGEN DEFICIENCY, FIBROCHONDROGENESIS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ADAMS-OLIVER SYNDROME 6, OTOPALATODIGITAL SYNDROME, TYPE I, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, MELNICK-NEEDLES SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, KNIEST DYSPLASIA, GLANZMANN THROMBASTHENIA, MYASTHENIC SYNDROME, CONGENITAL, 19, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, WAARDENBURG SYNDROME, TYPE 4C, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PCWH SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, GELEOPHYSIC DYSPLASIA 2, DIAPHANOSPONDYLODYSOSTOSIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, FIBROCHONDROGENESIS 1, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PROTEUS SYNDROME, SOMATIC

ITGB3, FBLN5, COL1A1, SMAD4, PTEN, AR, TNF, TGFB1, FLNA, PSEN1, CD40LG, TBP, SPINT2, COL11A1, COL11A2, VHL, COL5A1, BMP2, COL3A1, PLG, FBN2, BMP1, SOX10, CCND1, WNT5A, DVL1, COL5A2, TP53, LRP2, FBN1, PKD1, MMP1, ADAM17, IL6, F2, AKT1, NOTCH1, EGFR, BMPER, COL13A1, PRSS1, SMAD3, HSPG2, AGT, STAT3, COL2A1, INS, DLL4, COL7A1

{SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL

INS, HLA-DRB1, HLA-B

TRIFUNCTIONAL PROTEIN DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY

HADH, HADHB, ACADM, ACADVL, ACADS, HADHA, CPS1

3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PROPIONICACIDEMIA, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, BIOTINIDASE DEFICIENCY

MCCC1, HLCS, PCCB, BTD, HIBCH, PC, MCCC2, PCCA

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NON-IMMUNE HYDROPS FETALIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, POLYCYSTIC LIVER DISEASE, GM1-GANGLIOSIDOSIS, TYPE I, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SIALIC ACID STORAGE DISORDER, INFANTILE, CRANIOLENTICULOSUTURAL DYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GM1-GANGLIOSIDOSIS, TYPE II, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, AMISH INFANTILE EPILEPSY SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINOCEREBELLAR ATAXIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, ?DYSTONIA, JUVENILE-ONSET, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GM1-GANGLIOSIDOSIS, TYPE III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANGELMAN SYNDROME, CONGENITAL DISORDER OF DEGLYCOSYLATION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ADAMS-OLIVER SYNDROME 5, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CHYLOMICRON RETENTION DISEASE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYOPATHY, MYOFIBRILLAR, 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14

FASLG, DPM1, GLB1, STT3A, NGLY1, SMAD4, PIGA, MPI, PRKCSH, TGFB1, RFT1, NOS3, GMPPA, GMPPB, TNF, PMM2, MOGS, ATXN1, ALG3, ALG11, NOTCH1, BTK, PIGC, SLC17A5, IL6, MET, ALG1, UBE3A, ST3GAL5, COL1A1, SEC23A, DES, ALG2, HRAS, DPM2, MPDU1, GNE, ACTB, SAR1B, HSPG2, NEU1, DDOST, KDR, INS, ALG13

LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?IMMUNODEFICIENCY 22, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COFFIN-SIRIS SYNDROME 4, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, OPITZ GBBB SYNDROME, TYPE I, {CELIAC DISEASE, SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3

LCK, GATA1, STAT1, TTR, IL6, TNF, HSPD1, JAK2, PRKCD, HLA-DRB1, MID1, STX11, HLA-DQB1, ESR1, BDNF, HLA-B, HLA-DQA1, BCL10, SQSTM1, CIITA, SMARCA4

BASAL CELL NEVUS SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SUPRANUCLEAR PALSY, PROGRESSIVE, IMMUNODEFICIENCY 15, HETEROTAXY, VISCERAL, 5, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ADAMS-OLIVER SYNDROME 6, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, POLYCYTHEMIA VERA, SOMATIC, WAARDENBURG SYNDROME, TYPE 4A, HAJDU-CHENEY SYNDROME, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, PANCREATIC AND CEREBELLAR AGENESIS, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, EHLERS-DANLOS SYNDROME, TYPE IV, HERMANSKY-PUDLAK SYNDROME 1, PAROXYSMAL EXTREME PAIN DISORDER, SPHEROCYTOSIS, TYPE 1, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, HYPOPHOSPHATASIA, INFANTILE, SPLENIC HYPOPLASIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, STORMORKEN SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DUANE-RADIAL RAY SYNDROME, TRIGONOCEPHALY 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL CYSTS AND DIABETES SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, SADDAN, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HEMOCHROMATOSIS, TYPE 2A, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), RENPENNING SYNDROME, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, LOEYS-DIETZ SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ?IMMUNODEFICIENCY 22, RIGHT ATRIAL ISOMERISM, HEMOCHROMATOSIS, TYPE 2B, CRANIOFRONTONASAL DYSPLASIA, PYRUVATE KINASE DEFICIENCY, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, DIAPHANOSPONDYLODYSOSTOSIS, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, VELOCARDIOFACIAL SYNDROME, CENTRONUCLEAR MYOPATHY 5, FANCONI-BICKEL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, PITT-HOPKINS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CORNELIA DE LANGE SYNDROME 2, ALPHA-METHYLACETOACETIC ACIDURIA, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, AXENFELD-RIEGER SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OPSISMODYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, ALAGILLE SYNDROME 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, SMITH-LEMLI-OPITZ SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PANCREATIC AGENESIS 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WEAVER SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, BANNAYAN-RILEY-RUVALCABA SYNDROME, LEPRECHAUNISM, DIGEORGE SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, SPHEROCYTOSIS, TYPE 2, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, COFFIN-SIRIS SYNDROME 4, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, ?DYSTONIA, JUVENILE-ONSET, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, VISCERAL MYOPATHY, ALAGILLE SYNDROME, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, EPISODIC ATAXIA, TYPE 6, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, ABLEPHARON-MACROSTOMIA SYNDROME, HEMOCHROMATOSIS TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CORNELIA DE LANGE SYNDROME 1, VACTERL ASSOCIATION, X-LINKED, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PARAMYOTONIA CONGENITA, OPITZ-KAVEGGIA SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, HOLOPROSENCEPHALY 11, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, AGAMMAGLOBULINEMIA 4, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, PANCREATIC AGENESIS 2, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, IVIC SYNDROME, GLANZMANN THROMBASTHENIA, HOLOPROSENCEPHALY-7, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AGAMMAGLOBULINEMIA 3, CURRARINO SYNDROME, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, WISKOTT-ALDRICH SYNDROME, HYPEREKPLEXIA HEREDITARY, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, OHDO SYNDROME, X-LINKED, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HERMANSKY-PUDLAK SYNDROME 7, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TWIST2, GFI1B, DLL4, F2, WNT5A, CNTNAP1, COL1A1, PKD1, DNM2, ACTB, SEMA3E, CIITA, COL3A1, PPARG, SMARCA4, EFTUD2, ITGB3, SLC1A3, AGT, ACAT1, INSR, COL5A1, SOX2, ASCC1, NCF4, ITGA2B, BTK, GJA1, SOX10, HNRNPK, FGA, PLAU, KMT2A, GFRA1, FGF20, SALL4, PEX13, CLASP1, PNPLA2, HNF1B, TRIM32, BMPER, PIK3CA, NEUROG3, SCN11A, CDC73, ERCC2, POR, FGG, TGFBR2, TBK1, COL2A1, IL2RG, CTNNB1, SF3B4, AQP2, ACTA1, SHOC2, PABPN1, SCN4A, KRAS, NFKB2, APOA1, HLA-DQA1, SCNN1G, EGFR, NKX2-5, HAMP, NME1, VHL, PSMB8, IGF2, CD79A, ZAP70, NOS3, AGPAT2, MYCN, PTF1A, MAPT, CAD, SMAD9, RYR1, FGFR1, SCNN1A, COL7A1, LEP, PSEN1, AKT2, NFKBIA, ESR1, FSHR, SMARCE1, TUBB4A, CCND1, MET, JAK2, STAT1, GNAS, ZIC3, MPZ, CNTN5, TAF1, TNFRSF1A, GDF1, ALPL, SCYL1, GSC, SPEG, BIN1, RPS6KA3, GPHN, TBX1, PTPRC, INS, CDON, PCK1, ACVR1B, PLIN1, PTCH1, NCF1, STIM1, KCNJ11, CACNA1G, HFE2, SLC2A2, IL2RA, BLNK, EP300, SMAD4, HNF4A, FGB, CBS, GDNF, HLA-DRB1, GRIP1, CASR, CNTN1, GCK, PQBP1, HES7, NUP62, TNFAIP3, BMP2, EDNRB, AKT1, PLEC, INPPL1, VDR, MRPL3, DTNBP1, POLR2F, WAS, MNX1, PRKCD, LRP2, FBN1, MED17, IKBKB, USP9X, MAP2K2, EZH2, SCN1A, GLI3, SMC1A, SNCA, TINF2, ITCH, UBQLN2, EFNB1, PTEN, FGFR3, MUSK, PAX4, BRAF, SHANK3, TRIP4, ITGA6, KIT, CFC1, SUMF1, OCLN, LCK, NRAS, AR, FLNA, MYH11, KRT8, NODAL, PINK1, NOTCH1, DHCR7, ASCL1, PRNP, TGFB1, JAG1, COL5A2, JAK3, TBP, DVL1, ITGB4, ERCC4, STAT3, PCNA, TCF4, PKLR, PLG, SCN9A, MED12, PITX2, TP53, MSH2, FGFR2, CREBBP, PLCG2, DNMT3A, IL6, ZHX2, GATA6, PDGFRA, L1CAM, BDNF, RET, CTCF, HRAS, FASLG, ANK1, ATXN3, DNMT3B, PDX1, POLR3B, SMAD3, CYP7B1, NOTCH2, HSPG2, TNF, SPTB, PAX8, KDR, GPD1, MMP1, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, PROPIONICACIDEMIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MULTIPLE SULFATASE DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PEUTZ-JEGHERS SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SPLENIC HYPOPLASIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, WEAVER SYNDROME, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, D-BIFUNCTIONAL PROTEIN DEFICIENCY, HYPERCALCEMIA, INFANTILE, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, SICKLE CELL ANEMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, FARBER LIPOGRANULOMATOSIS, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, COENZYME Q10 DEFICIENCY, PRIMARY, 7, ?REYNOLDS SYNDROME, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, BILE ACID MALABSORPTION, PRIMARY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, METHYLMALONYL-COA EPIMERASE DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, COCKAYNE SYNDROME, TYPE A, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GAUCHER DISEASE, TYPE IIIC, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, LOWE SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, ADAMS-OLIVER SYNDROME 5, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, SITOSTEROLEMIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), VLCAD DEFICIENCY, BARTTER SYNDROME, TYPE 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PYRUVATE KINASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, YUNIS-VARON SYNDROME, FLOATING-HARBOR SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, TRIFUNCTIONAL PROTEIN DEFICIENCY, OVARIAN HYPERSTIMULATION SYNDROME, COFFIN-SIRIS SYNDROME 3, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, GALLBLADDER DISEASE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, CHYLOMICRON RETENTION DISEASE, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HYPERLIPOPROTEINEMIA, TYPE IB, ALPHA-METHYLACETOACETIC ACIDURIA, PRADER-WILLI SYNDROME, HYPER-IGD SYNDROME, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MULTIPLE ENDOCRINE NEOPLASIA 1, COMBINED SAP DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, GAUCHER DISEASE, TYPE I, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE XIII, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, GM1-GANGLIOSIDOSIS, TYPE III, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, BURN-MCKEOWN SYNDROME, ?PRUNE BELLY SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, GM1-GANGLIOSIDOSIS, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, WOLFRAM SYNDROME 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CORNELIA DE LANGE SYNDROME 4, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MYASTHENIC SYNDROME, CONGENITAL, 5, LEUKODYSTROPHY, HYPOMYELINATING, 4, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SPINOCEREBELLAR ATAXIA 1, CHANARIN-DORFMAN SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, METHYLMALONIC ACIDURIA CBLB TYPE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, COENZYME Q10 DEFICIENCY, PRIMARY, 5, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, NIEMANN-PICK DISEASE, TYPE A, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LATHOSTEROLOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CHILD SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, HMG-COA SYNTHASE-2 DEFICIENCY, CORNELIA DE LANGE SYNDROME 5, METACHROMATIC LEUKODYSTROPHY, HEMOCHROMATOSIS TYPE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, CRANIOLENTICULOSUTURAL DYSPLASIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, COENZYME Q10 DEFICIENCY, PRIMARY, 1, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CORNELIA DE LANGE SYNDROME 1, KRABBE DISEASE, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, ABETALIPOPROTEINEMIA, OPITZ-KAVEGGIA SYNDROME, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, CPT II DEFICIENCY, LETHAL NEONATAL, POLYCYSTIC LIVER DISEASE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CPT DEFICIENCY, HEPATIC, TYPE II, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, EHLERS-DANLOS SYNDROME, TYPE VI, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, GAUCHER DISEASE, TYPE II, ALAGILLE SYNDROME, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPOBETALIPOPROTEINEMIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RUBINSTEIN-TAYBI SYNDROME 2, OHDO SYNDROME, X-LINKED, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, PANCREATIC LIPASE DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?DIARRHEA 7, COENZYME Q10 DEFICIENCY, PRIMARY, 3, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, DENT DISEASE 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

LMNA, PEX14, SEC23A, NDUFS2, HBB, ASAH1, APOB, COQ9, COL1A1, CPT2, ACADS, NR4A2, ACTB, LBR, SQSTM1, COQ7, SMARCA4, ALDOA, CYP11B2, SLCO1B3, AGT, PCCB, PPARG, TAF6, PTDSS1, COLQ, NCF4, NSDHL, KMT2A, RAD21, FGA, BAAT, STK11, HADH, SLC25A1, ARSB, CASP8, PNPLA2, MLYCD, DES, PIK3CA, ABCD1, POR, MBTPS2, HADHA, OCRL, SMAD4, CYP7B1, PRKAG2, ABHD5, ACOX1, CTNNB1, PTEN, FIG4, AMN, KRAS, APOA1, PLAU, EGFR, NKX2-5, ABCB11, NME1, PGM1, PKLR, AGPAT2, THRA, SMARCB1, KCNJ1, CAD, AKR1D1, ARSA, FGFR1, NOS3, MET, LEP, AHI1, PIK3CD, MARS2, ABCA1, NFKBIA, PLOD1, CYP27B1, FSHR, AMACR, CCND1, CEL, JAK2, SC5D, ELOVL4, MEN1, EP300, KDR, ABCG8, HSPD1, TNFRSF1A, CHAT, TSHB, GPD1, CREBBP, ACADVL, CYP24A1, STAT3, ERCC8, NUBPL, INS, SLC35A2, SLCO1B1, PLIN1, ACTA1, NCF1, TTR, PFKM, GLB1, ACAT1, BMP1, SSR4, INPP5E, HNF4A, DVL3, SMPD1, CBS, PEX19, MVK, CD40LG, GMPPB, CASR, MED12, AP1S1, GJA1, NUP62, BMP2, NDN, AKT1, SOX2, GALE, VDR, COQ2, MRPL3, CFTR, MTTP, MUT, HDAC8, TP53, GFI1B, SEC63, CISD2, MED17, LRP2, HNRNPK, EZH2, PDSS2, GALC, SNCA, TINF2, PEX13, HSPA9, CUBN, MMAA, ACADM, COQ4, ABCD3, NEU1, CHRM3, DDOST, TXNL4A, MTM1, SUMF1, SAR1B, FAH, LCK, NDUFS3, AR, LRP5, GIF, PSAP, PRKCD, MYH7, HCCS, LIPA, INPPL1, NOTCH1, HSD17B4, TARDBP, DHCR7, HPCA, ABCG5, JAG1, APOC2, GATA6, TBP, TGFB1, HADHB, STAT1, HMGCS2, MT-CO2, ATXN1, SRCAP, NDUFS4, PCCA, LIPE, CPS1, FGFR2, C10orf2, IL6, GBA, CPT1A, GLA, PARK2, PCNA, PLA2G6, CTCF, DHFR, HRAS, ABCB4, FASLG, SLC10A2, DGAT1, POLR3B, SMAD3, PPP1R15B, SLC25A20, HSPG2, TNF, ESR1, ITGB3, PNLIP, HSD3B7, MCEE, KIF1BP, PIK3R1

FIBROCHONDROGENESIS 2, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SMED STRUDWICK TYPE, PARKINSON DISEASE 1, GLANZMANN THROMBASTHENIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, KNIEST DYSPLASIA, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PITT-HOPKINS-LIKE SYNDROME 2, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PCWH SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, WAARDENBURG SYNDROME, TYPE 4C, BLEEDING DISORDER, PLATELET-TYPE, 17, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

TTR, ITGB3, COL1A1, LAMA2, ITGB4, COL5A2, NRXN1, COL11A1, TGFB1, COL11A2, VHL, COL5A1, COL3A1, SOX10, FGA, ITGA6, MMP1, SNCA, EGFR, GFI1B, SMAD3, HSPG2, TNF, COL7A1, COL2A1, PIK3R1

POLYCYTHEMIA VERA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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, ?IMMUNODEFICIENCY 22, COMMON VARIABLE IMMUNODEFICIENCY 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, CLOVE SYNDROME, SOMATIC, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC

LCK, CD3D, NOS3, STAT1, AGT, PPARG, CD3E, AKT2, AKT1, ICOS, HLA-DQA1, CD3G, JAK2, HLA-DRB1, HLA-DQB1, EP300, PIK3CA, CTLA4, FASLG, PTEN, TNF, STAT3, PTPRC, INS, PIK3R1

IMMUNODEFICIENCY 15, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, 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, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ?IMMUNODEFICIENCY 37, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, WISKOTT-ALDRICH SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, ZAP70, CD3D, BCL10, HLA-DRB1, CD3G, WAS, CD3E, INSR, AKT1, PTPRC, CARD11, NFKBIA, ITCH, HLA-DQB1, PCNA, PIK3CA, TNFRSF1A, EGFR, PTEN, ITK, IKBKB, TBK1, ESR1, HLA-DQA1, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PARKINSON DISEASE 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SMITH-LEMLI-OPITZ SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

NDUFS3, NDUFA11, NDUFB3, SCO2, NDUFAF6, MT-CO1, MT-ND6, MT-ND4, DHCR7, NDUFAF2, NDUFA1, TPM3, MT-CO2, SCO1, NDUFS4, NDUFV2, NDUFB9, NDUFS1, NDUFAF4, LRPPRC, COX6B1, NDUFS6, SDHC, MT-ND1, TACO1, NDUFAF3, NDUFS2, MT-CO3, COX20, SNCA, NDUFAF5, COX8A, MT-ND5, COX14, CYC1, SDHB, UQCRB, MT-ND3, NDUFS7, NDUFV1

CLOVE SYNDROME, SOMATIC, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 15, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?IMMUNODEFICIENCY 37, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?IMMUNODEFICIENCY 22, PERIODIC FEVER, FAMILIAL, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC

LCK, HLA-DRB1, CD3G, CARD11, BCL10, NFKBIA, CD3D, PCNA, CD3E, HLA-DQB1, ESR1, PIK3R1, HLA-DQA1, PIK3CA, AKT1, IKBKB, PTEN, TNFRSF1A

HETEROTAXY, VISCERAL, 5, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, ADAMS-OLIVER SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DYSAUTONOMIA, FAMILIAL, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TRIGONOCEPHALY 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, IMMUNODEFICIENCY 19, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NON-IMMUNE HYDROPS FETALIS, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, EVEN-PLUS SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, OTOPALATODIGITAL SYNDROME, TYPE I, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ALAGILLE SYNDROME, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, AGAMMAGLOBULINEMIA 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CORNELIA DE LANGE SYNDROME 5, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC

TSC2, WNT5A, SALL1, FAS, SQSTM1, PIK3CA, PSEN1, AGT, CD3D, BTK, PIK3CD, CDT1, CDC73, JAG1, POR, TGFBR2, CREBBP, IKBKAP, CTNNB1, DLL4, ACTA1, SHOC2, GRIP1, KRAS, SMARCE1, NOS3, THRA, BUB1B, FGFR1, CD3E, LEP, AKT2, PSMB8, CCND1, MET, JAK2, IGHM, VPS33B, EP300, TAF1, TNFRSF1A, NOTCH3, PCNA, RPS6KA3, STAT3, INS, TTR, GJA1, SMAD4, SMAD9, STAT1, FLNA, APC, PITX2, HNF4A, RAPSN, BMP2, FGF20, AKT1, SOX2, AXIN1, PARK2, HDAC8, TP53, LRP2, EZH2, SNCA, CDKN1C, HSPA9, PTEN, FGFR3, AMER1, KIT, LCK, NRAS, LRP5, FZD6, NODAL, WNT3, TGFB1, INSR, NOTCH1, FGFR2, IL6, PDGFRA, BDNF, ADAM17, CTLA4, HRAS, EGFR, STRA6, SMAD3, HSPG2, TNF, ESR1, SKI, KDR, PORCN, PIK3R1

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, SUPRANUCLEAR PALSY, PROGRESSIVE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 4, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRYPSINOGEN DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, BROWN-VIALETTO-VAN LAERE SYNDROME 1, LEPRECHAUNISM, FOLATE MALABSORPTION, HEREDITARY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, TRANSCOBALAMIN II DEFICIENCY, DONNAI-BARROW SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PYRUVATE CARBOXYLASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, OCCIPITAL HORN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MOLYBDENUM COFACTOR DEFICIENCY A, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OPSISMODYSPLASIA, MOLYBDENUM COFACTOR DEFICIENCY B, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, CODAS SYNDROME, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), COLE DISEASE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, BIOTINIDASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CHOROID PLEXUS PAPILLOMA

AMN, ALPL, GIF, APOA1, MMAB, SLC46A1, MTRR, MTHFR, MOCS2, MAPT, SHMT1, SLC19A3, HLCS, ATP7A, ENPP1, CBS, PCCB, SLC52A3, INSR, ABCA1, BTD, MOCS1, PCCA, MCCC2, INPPL1, NDUFS1, SLC19A2, LONP1, C10orf2, SLC2A1, MUT, TP53, LRP2, TCN2, MMACHC, HSPD1, DHFR, PNPO, SLC19A1, MCCC1, ABCD4, MTR, CUBN, PRSS1, ABCD3, PANK2, GPHN, LMBRD1, PC, MMAA, HMGCS2

GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS IH, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS II, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MUCOPOLYSACCHARIDOSIS IH/S, GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), UROFACIAL SYNDROME 1, OMODYSPLASIA 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS, MPS-III-A, NON-IMMUNE HYDROPS FETALIS

SGSH, NAGLU, GLB1, GPC6, GUSB, HPSE2, HSPG2, HGSNAT, NEU1, GPC3, IDUA, IDS, NOS3

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LACTASE DEFICIENCY, CONGENITAL, GM1-GANGLIOSIDOSIS, TYPE I, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), NON-IMMUNE HYDROPS FETALIS, FRUCTOSE INTOLERANCE, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS IH/S, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, GLYCOGEN STORAGE DISEASE 0, MUSCLE, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IVA

SGSH, ARSB, EPM2A, NAGLU, GLB1, IDS, LCT, GUSB, ALDOB, GYS1, NHLRC1, SMAD4, HGSNAT, NEU1, IDUA, GNS, GALNS

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, LEUKODYSTROPHY, HYPOMYELINATING, 4, POLYCYTHEMIA VERA, SOMATIC, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, SPINOCEREBELLAR ATAXIA 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MISMATCH REPAIR CANCER SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MUIR-TORRE SYNDROME, RUBINSTEIN-TAYBI SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, STRIATONIGRAL DEGENERATION, INFANTILE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, RUBINSTEIN-TAYBI SYNDROME 2, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HERMANSKY-PUDLAK SYNDROME 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CRANIOLENTICULOSUTURAL DYSPLASIA, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, OPITZ GBBB SYNDROME, TYPE I, JOHANSON-BLIZZARD SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ARGININEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 7, CHOROID PLEXUS PAPILLOMA

GATA1, TTR, SMARCA4, PRKCD, STX11, NUP62, FAS, SQSTM1, CIITA, UBR1, STAT1, DVL1, MLH1, TNF, TGFB1, ARG1, HLA-DRB1, VHL, ESR1, MID1, HLA-B, BCL10, TP53, EIF4A3, CD3E, CCND1, PSMB8, IL6, ATXN1, JAK2, HLA-DQB1, BDNF, SEC23A, EP300, HSPD1, SAMHD1, EGFR, CFTR, SMAD3, AAAS, CREBBP, STAT3, DTNBP1, HLA-DQA1, INS

ADAMS-OLIVER SYNDROME 5, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ABETALIPOPROTEINEMIA, SITOSTEROLEMIA, POLYCYSTIC LIVER DISEASE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CHANARIN-DORFMAN SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PYRUVATE KINASE DEFICIENCY, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, HYPOBETALIPOPROTEINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, HYPERLIPOPROTEINEMIA, TYPE IB, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, PANCREATIC LIPASE DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, PROTEUS SYNDROME, SOMATIC

PLIN1, AMN, LRP5, APOB, APOA1, ABCG5, PKLR, TNF, TGFB1, PPARG, HNF4A, LEP, APOC2, AKT1, ABCA1, BMP1, IL6, CEL, LIPE, LRP2, INS, PNPLA2, ABCG8, NOTCH1, EGFR, MTTP, HSPG2, PNLIP, ABHD5, CUBN, PIK3R1

PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PROPIONICACIDEMIA, TRANSCOBALAMIN II DEFICIENCY, DONNAI-BARROW SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), INTRINSIC FACTOR DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, OPSISMODYSPLASIA, METHYLMALONIC ACIDURIA CBLB TYPE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, BIOTINIDASE DEFICIENCY, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), PYRUVATE CARBOXYLASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE

AMN, LRP2, HLCS, MTR, MUT, PC, PCCB, MMAB, CUBN, MMAA, GIF, BTD, LMBRD1, C10orf2, MTRR, MCCC1, PCCA, MMACHC, MCCC2, TCN2, INPPL1

PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, METHYLMALONIC ACIDURIA, MUT(0) TYPE, INTRINSIC FACTOR DEFICIENCY, TRANSCOBALAMIN II DEFICIENCY, TRYPSINOGEN DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, METHYLMALONIC ACIDURIA CBLB TYPE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, DONNAI-BARROW SYNDROME, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE

AMN, LRP2, ABCD4, LMBRD1, MTR, MUT, PRSS1, MMAA, GIF, MMAB, C10orf2, MTRR, CUBN, MMACHC, TCN2

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PANCREATIC AGENESIS 1, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PANCREATIC AGENESIS 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PYRUVATE KINASE DEFICIENCY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, FANCONI-BICKEL SYNDROME, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PANCREATIC AND CEREBELLAR AGENESIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, RUBINSTEIN-TAYBI SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

SLC2A2, HNF1B, SMAD4, CREBBP, NOTCH1, PTF1A, TNF, GCK, STAT3, HNF4A, NOS3, AKT2, AKT1, ASCL1, CCND1, PCNA, EP300, NEUROG3, PAX4, ESR1, PKLR, INS, PDX1

?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, POLYCYSTIC LIVER DISEASE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6

YARS2, RARS2, SARS2, EARS2, SEC63, FARS2, CARS2, NARS2, SMAD4, MARS2, TARS2, HSPD1, CPS1

NON-IMMUNE HYDROPS FETALIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, GM1-GANGLIOSIDOSIS, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GM1-GANGLIOSIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, AMISH INFANTILE EPILEPSY SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINOCEREBELLAR ATAXIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, ?DYSTONIA, JUVENILE-ONSET, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, GM1-GANGLIOSIDOSIS, TYPE III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14

DPM1, GLB1, PIGA, MPI, RFT1, NOS3, GMPPA, GMPPB, TNF, PMM2, ATXN1, ALG3, ALG11, PIGC, SLC17A5, IL6, MET, ALG1, ST3GAL5, NEU1, ALG2, FASLG, MPDU1, GNE, ACTB, DPM2, HSPG2, INS, ALG13

IMMUNODEFICIENCY 15, MULTIPLE SULFATASE DEFICIENCY, BENT BONE DYSPLASIA SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, POLYCYTHEMIA VERA, SOMATIC, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SADDAN, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, SPHEROCYTOSIS, TYPE 2, CRANIOFRONTONASAL DYSPLASIA, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MULTIPLE ENDOCRINE NEOPLASIA IIA, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, WAARDENBURG SYNDROME, TYPE 4C, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WEAVER SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, KNIEST DYSPLASIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EPISODIC ATAXIA, TYPE 6, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, EHLERS-DANLOS SYNDROME, TYPE IV, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, APERT SYNDROME, SPINOCEREBELLAR ATAXIA 42, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

F2, WNT5A, COL1A1, ACTB, COL3A1, SLC1A3, AGT, COL5A1, UBQLN2, ITGA2B, SOX10, FGA, GFRA1, PIK3CA, NCF4, FGG, COL2A1, IL2RG, SF3B4, PTEN, ACTA1, SHOC2, KRAS, MAP2K2, SMARCE1, IGF2, NOS3, TNF, RYR1, FGFR1, LEP, PSMB8, CCND1, JAK2, GDNF, BDNF, RPS6KA3, STAT3, BRAF, INS, PITX2, COL7A1, NCF1, ITGB3, CACNA1G, GJA1, IL2RA, SMAD4, FGB, HLA-DRB1, NFKB2, VHL, HES7, BMP2, HRAS, AKT1, PLEC, TP53, IKBKB, PLAU, EZH2, SNCA, EFNB1, MUSK, FGFR3, SHANK3, KIT, SUMF1, LCK, NRAS, PRKCD, HNRNPK, PRNP, TGFB1, COL5A2, TNFAIP3, SPTB, NOTCH1, FGFR2, JAK3, PDGFRA, L1CAM, PCNA, RET, FGF20, EGFR, HSPG2, ESR1, PIK3R1

3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PROPIONICACIDEMIA, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, BIOTINIDASE DEFICIENCY

MCCC1, HLCS, PCCB, BTD, HIBCH, PC, MCCC2, PCCA

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ISOVALERIC ACIDEMIA, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, ALPHA-METHYLACETOACETIC ACIDURIA

MCCC1, CDC73, DLD, DBT, IVD, ACAT1, MT-CO2, BCKDHB, HIBCH, ALDH6A1, MCCC2, BCKDHA

?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SUPRANUCLEAR PALSY, PROGRESSIVE, IMMUNODEFICIENCY 15, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LYSINURIC PROTEIN INTOLERANCE, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ANGIOEDEMA, HEREDITARY, TYPE III, MELNICK-NEEDLES SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GLANZMANN THROMBASTHENIA, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CORNELIA DE LANGE SYNDROME 3, SPHEROCYTOSIS, TYPE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, STORMORKEN SYNDROME, LOEYS-DIETZ SYNDROME 2, GLYCOGEN STORAGE DISEASE XII, STROMME SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MOYAMOYA 6 WITH ACHALASIA, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?IMMUNODEFICIENCY 22, 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, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CYANOSIS, TRANSIENT NEONATAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, PARKINSON DISEASE 1, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, ANGELMAN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, FANCONI ANEMIA, COMPLEMENTATION GROUP O, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OPSISMODYSPLASIA, COMBINED SAP DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, ?HEMOCHROMATOSIS, TYPE 5, WEAVER SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, RUBINSTEIN-TAYBI SYNDROME 2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY 14, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, ANGIOEDEMA, HEREDITARY, TYPES I AND II, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FRAGILE X TREMOR/ATAXIA SYNDROME, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, MEIER-GORLIN SYNDROME 4, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, CHOROID PLEXUS PAPILLOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, CLOVE SYNDROME, SOMATIC, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DUBIN-JOHNSON SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MECKEL SYNDROME 4, WISKOTT-ALDRICH SYNDROME, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, SICKLE CELL ANEMIA, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

BRCA2, TRIM32, F2, HBB, FGFR1, APOB, COL1A1, ABCC2, VPS11, ACTB, FAS, STIM1, GNAS, CENPF, CDT1, PSEN1, ANK1, ALDOA, AGT, IGKC, PPARG, LEP, SOX2, UBQLN2, ITGA2B, PKD1, FGA, MYH7, STK11, AKT2, FMR1, PSTPIP1, CLASP1, COL2A1, MMP1, DNM2, DES, PIK3CA, PRF1, CDC73, GFI1B, FGG, SERPING1, TBK1, SLC9A3, IL2RG, CTNNB1, MUSK, HMGCS2, ACTA1, SHOC2, GP1BA, KRAS, APOA1, PDE10A, PLAU, SERPINA1, ADCY6, AR, IGF2, ZAP70, NOS3, GP1BB, GPD1, SLC16A1, MAPT, BUB1B, CIITA, ITGB4, EDNRA, CHRM3, SCARB2, MECP2, PIK3CD, ABCA1, SMARCE1, ITGA6, CCND1, JAK2, CD40LG, EP300, HSPD1, TNFRSF1A, ACTA2, SLC7A7, GP9, CREBBP, RPS6KA3, STAT3, PTPRC, INS, ABCC8, JAM3, MT-CO1, GATA1, FCGR2A, TTR, ITGB3, GJA1, IL2RA, NRAS, SMAD4, FGB, CBS, F12, CEP290, HLA-DRB1, TGFB3, ITK, CASR, VHL, HBG2, BMP2, FOXP3, HRAS, AKT1, BIN1, INPPL1, CFTR, ATXN1, TP53, UBE3A, EGFR, IKBKB, AXIN1, EZH2, GLI3, SNCA, RAD51C, TTN, EFNB1, KAT6A, PTEN, ACVRL1, TUBB4A, GUCY1A3, KIT, GSC, LCK, SERPINC1, SH2B3, FLNA, SMAD3, PSAP, PRKCD, HNRNPK, CLDN1, GATA6, TBP, KLF1, TGFB1, STAT1, WAS, MT-CO2, PCNA, INSR, NOTCH1, PLG, VPS45, ITCH, FGFR2, PLCG2, IL6, JAK3, L1CAM, BDNF, RET, CTCF, APC, SMC3, EDNRB, FTH1, LRP2, MYH11, HSPG2, TNF, ESR1, TGFBR2, KDR, SH2D1A, HFE, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), LACTASE DEFICIENCY, CONGENITAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HYPERCALCEMIA, INFANTILE, VITAMIN D-DEPENDENT RICKETS, TYPE I, GLYCOGEN STORAGE DISEASE VI, GM1-GANGLIOSIDOSIS, TYPE I, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS, MPS-III-A, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FRUCTOSE INTOLERANCE, MUCOPOLYSACCHARIDOSIS VII, TRANSCOBALAMIN II DEFICIENCY, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, METHYLMALONIC ACIDURIA CBLB TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PYRUVATE CARBOXYLASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, GM1-GANGLIOSIDOSIS, TYPE III, OPSISMODYSPLASIA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, MUCOPOLYSACCHARIDOSIS II, OVARIAN HYPERSTIMULATION SYNDROME, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MUCOPOLYSACCHARIDOSIS IH/S, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, GLYCOGEN STORAGE DISEASE 0, MUSCLE, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LATHOSTEROLOSIS, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IVA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, 5-OXOPROLINASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, BIOTINIDASE DEFICIENCY, PROTEUS SYNDROME, SOMATIC, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, INTRINSIC FACTOR DEFICIENCY

AMN, NDUFS3, SGSH, HLCS, GIF, LCT, APOA1, MMAB, SMAD4, NHLRC1, CYP7B1, PYGL, AKT1, IDS, OPLAH, CYP27B1, SC5D, EPM2A, GLB1, CASR, TNF, GNS, PCCB, MT-CO2, LEP, BTD, HIBCH, PCCA, MCCC2, INPPL1, VDR, FSHR, MRPL3, HGSNAT, NAGLU, MUT, ALDOB, GYS1, LMBRD1, LRP2, NEU1, MTR, CYP11B2, TCN2, MMACHC, MTRR, GALNS, MCCC1, GUSB, POR, CUBN, MMAA, QDPR, ABCD3, CYP24A1, IDUA, C10orf2, INS, PC, ARSB

PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, METHYLMALONIC ACIDURIA, MUT(0) TYPE, INTRINSIC FACTOR DEFICIENCY, TRANSCOBALAMIN II DEFICIENCY, DONNAI-BARROW SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, METHYLMALONIC ACIDURIA CBLB TYPE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE

AMN, LRP2, LMBRD1, MTR, MUT, MMAA, MMAB, GIF, C10orf2, MTRR, CUBN, MMACHC, TCN2

FIBROCHONDROGENESIS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SMED STRUDWICK TYPE, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?OSTEOGENESIS IMPERFECTA, TYPE X, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, EHLERS-DANLOS SYNDROME, TYPE VI, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIC, MYASTHENIC SYNDROME, CONGENITAL, 19, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, AGAMMAGLOBULINEMIA 3, WAARDENBURG SYNDROME, TYPE 4C, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PCWH SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ROBINOW SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, FIBROCHONDROGENESIS 1, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CHOROID PLEXUS PAPILLOMA

BMP1, ITGB4, PLEC, TP53, COL1A1, CD79A, COL5A2, TBP, CCND1, COL11A1, CIITA, COL11A2, COL5A1, BMP2, COL3A1, AKT1, FBLN5, SOX10, PLOD1, WNT5A, ITGA6, DVL1, DST, IL6, TGFB1, PIK3CA, SERPINH1, ADAMTS2, LRP2, COL13A1, SMAD3, TNF, STAT3, COL7A1, COL2A1, INS, PIK3R1

AICARDI-GOUTIERES SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CHOROID PLEXUS PAPILLOMA

EGFR, PSMB8, TNF, TP53, STAT1, HLA-DRB1, STAT3, HLA-B, HSPD1, SAMHD1

IMMUNODEFICIENCY 15, HETEROTAXY, VISCERAL, 5, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, GLANZMANN THROMBASTHENIA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?IMMUNODEFICIENCY 22, SPHEROCYTOSIS, TYPE 2, CRANIOFRONTONASAL DYSPLASIA, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, IMMUNODEFICIENCY 19, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, WAARDENBURG SYNDROME, TYPE 4C, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ALAGILLE SYNDROME, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EHLERS-DANLOS SYNDROME, TYPE IV, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, WISKOTT-ALDRICH SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, F2, WNT5A, COL1A1, ACTB, FAS, GNAS, COL3A1, AGT, COL5A1, UBQLN2, ITGA2B, PKD1, SOX10, FGA, PLAU, AKT2, CLASP1, PIK3CA, JAG1, FGG, TBK1, JAK3, COL2A1, IL2RG, DYNC2H1, SF3B4, PTEN, ACTA1, SHOC2, PLEC, APOA1, MAP2K2, CD3D, ADCY6, SMARCE1, IGF2, SQSTM1, NOS3, TNF, FGFR1, CD3E, LEP, PIK3CD, PSMB8, CCND1, JAK2, HLA-DRB1, EP300, NOTCH3, PCNA, RPS6KA3, WAS, BRAF, INS, PITX2, COL7A1, NCF1, ITGB3, GJA1, IL2RA, SMAD4, FGB, CD40LG, APC, NFKB2, VHL, HES7, BMP2, FOXP3, HRAS, AKT1, KRAS, CFTR, ATXN1, PRKCD, TP53, UBE3A, IKBKB, HNRNPK, EZH2, SNCA, EFNB1, MUSK, FGFR3, ITGA6, KIT, STAT3, LCK, NRAS, KRT8, NODAL, PTS, TGFB1, COL5A2, TNFAIP3, STAT1, SPTB, INSR, NOTCH1, PLG, FGFR2, IL6, ZHX2, THBS4, PDGFRA, L1CAM, BDNF, CTLA4, FGF20, EGFR, SMAD3, HSPG2, ESR1, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA

FAS, CASP10, FASLG, CASP8, FADD

FIBROCHONDROGENESIS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SMED STRUDWICK TYPE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE XIII, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PCWH SYNDROME, ROBINOW SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, FIBROCHONDROGENESIS 1, WAARDENBURG SYNDROME, TYPE 4C, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CHOROID PLEXUS PAPILLOMA

PLEC, TP53, COL1A1, ITGB4, COL5A2, CCND1, FBLN5, COL11A1, CIITA, COL11A2, COL5A1, BMP2, COL3A1, BMP1, SOX10, WNT5A, ITGA6, DVL1, DST, IL6, PIK3CA, LRP2, SMAD3, TNF, STAT3, COL2A1, INS, COL7A1

MULTIPLE SULFATASE DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AMISH INFANTILE EPILEPSY SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MELNICK-NEEDLES SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DYSAUTONOMIA, FAMILIAL, AGAMMAGLOBULINEMIA, X-LINKED 1, PETERS-PLUS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, BOHRING-OPITZ SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), CORNELIA DE LANGE SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ANGELMAN SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, CHYLOMICRON RETENTION DISEASE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, WAARDENBURG SYNDROME, TYPE 4C, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NON-IMMUNE HYDROPS FETALIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, WEAVER SYNDROME, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, GM1-GANGLIOSIDOSIS, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, OTOPALATODIGITAL SYNDROME, TYPE I, COMMON VARIABLE IMMUNODEFICIENCY 1, SPINOCEREBELLAR ATAXIA 1, ?DYSTONIA, JUVENILE-ONSET, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ALAGILLE SYNDROME, WIEDEMANN-STEINER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, METACHROMATIC LEUKODYSTROPHY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, CORNELIA DE LANGE SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, POLYCYSTIC LIVER DISEASE, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, LATERAL MENINGOCELE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPOBETALIPOPROTEINEMIA, CONGENITAL DISORDER OF DEGLYCOSYLATION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME 2, GELEOPHYSIC DYSPLASIA 1, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, F2, APOB, NGLY1, RAD21, GP1BA, GNAS, EFTUD2, B3GLCT, PMM2, MUC5B, NOTCH3, ALG3, ASXL1, SOX10, PIGC, SLC17A5, ALG1, DPM2, COL1A1, SEC23A, DES, ALG2, ST3GAL5, JAG1, GFI1B, PIGM, IKBKAP, ACTB, KRAS, MPI, PIGT, NOS3, TNF, ARSA, MET, MOGS, ALG11, STT3A, CCND1, THSD1, AAAS, EP300, ADAMTS2, ACTA2, ADAMTSL2, INS, SMC3, GALNT14, PIGV, GLB1, CTNNB1, SMAD4, STAT1, GMPPB, NFKB2, ASCC1, NUP62, BMP2, NDN, AKT1, AXIN1, CFTR, ATXN1, TP53, UBE3A, FBN1, ADAMTS13, SMC1A, PIGO, DNMT3B, HSPA9, GNE, DDOST, BTK, ITGA6, STAT3, SUMF1, PIGA, FLNA, BIN1, PRKCD, HNRNPK, DPM1, PRKCSH, TGFB1, RFT1, GMPPA, EXT2, NOTCH1, IL6, NEU1, ADAM17, CTCF, HRAS, EGFR, MPDU1, SAR1B, HSPG2, ESR1, ARSB, KDR, DHFR, ALG13, PIGN, PIK3R1