ABDOMEN

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, IMMUNODEFICIENCY 15, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, COCKAYNE SYNDROME, TYPE A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 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, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ?IMMUNODEFICIENCY 37, [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, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, LOEYS-DIETZ SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RUBINSTEIN-TAYBI SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?IMMUNODEFICIENCY 22, HEMOCHROMATOSIS, TYPE 2B, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, FANCONI-BICKEL SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, COFFIN-SIRIS SYNDROME 3, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, OPSISMODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA 1, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, WAARDENBURG SYNDROME, TYPE 4C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PANCREATIC AGENESIS 1, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, COMMON VARIABLE IMMUNODEFICIENCY 1, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HMG-COA SYNTHASE-2 DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, 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, WOLCOTT-RALLISON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CURRARINO SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, COENZYME Q10 DEFICIENCY, PRIMARY, 3, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC

F2, KMT2A, NDUFA11, MT-CO3, PSEN1, FTL, NDUFA1, AGT, PPARG, AGL, ERCC8, SLC2A2, SOX10, STK11, AKT2, COX6B1, SEC23A, PIK3CA, NEUROG3, PRF1, TGFBR2, CREBBP, PRKAG2, UQCRB, HLA-DQA1, CTNNB1, COX8A, HMGCS2, ACTA1, SMARCA4, GJA1, CASP8, FAS, HAMP, AR, NOS3, TNF, EDNRA, SDHC, LEP, PIK3CD, ABCA1, ICOS, CCND1, JAK2, VPS33B, MEN1, EP300, NDUFS2, HSPD1, TNFRSF1A, GSC, STAT3, AIRE, INS, ABCC8, NDUFS7, MT-CO1, FASLG, LARS, KCNJ11, CACNA1G, NDUFB3, HNF1B, SMAD4, HNF4A, HLA-DRB1, GCK, BCS1L, AKT1, INPPL1, VDR, NDUFS1, PRKCD, TP53, HLA-DQB1, NDUFS6, IKBKB, SNCA, ITCH, HK1, PTEN, PAX4, DDOST, ITGA6, MT-ND3, NDUFV1, LCK, NDUFS3, SMARCB1, PDSS2, NOTCH1, TGFB1, TBP, EIF2AK3, BCL10, SDHB, MT-CO2, INSR, HLA-B, PKLR, NDUFS4, NDUFV2, MNX1, NDUFB9, IL6, COX4I2, PCNA, HRAS, EGFR, CYC1, ZAP70, ESR1, PDX1, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, WRINKLY SKIN SYNDROME, PARKINSON DISEASE 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, GLYCOGEN STORAGE DISEASE VII, COFFIN-LOWRY SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, PROTEUS SYNDROME, SOMATIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

NDUFS3, TCIRG1, NDUFB3, SCO2, MT-CO1, MT-ND6, MT-ND4, NDUFA11, ATP6V1B2, TPM3, MT-CO2, NDUFS4, NDUFV2, NDUFB9, NDUFS1, COX6B1, ATP6V0A2, NDUFS6, SDHC, MT-ND5, COX15, COX4I2, PFKM, NDUFS2, MT-CO3, AKT1, SNCA, NDUFA1, COX8A, MT-ND1, COX14, RPS6KA3, CYC1, SDHB, UQCRB, MT-ND3, COX10, NDUFS7, NDUFV1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LOEYS-DIETZ SYNDROME 5, IMMUNODEFICIENCY 14, NON-IMMUNE HYDROPS FETALIS, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, OCULODENTODIGITAL DYSPLASIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SESAME SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LOEYS-DIETZ SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE II, AGAMMAGLOBULINEMIA 4, GLANZMANN THROMBASTHENIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, DIABETES INSIPIDUS, NEPHROGENIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, VISCERAL MYOPATHY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CHOROID PLEXUS PAPILLOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, KNIEST DYSPLASIA, MELNICK-NEEDLES SYNDROME, CLOVE SYNDROME, SOMATIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, COFFIN-SIRIS SYNDROME 3, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, 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, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, {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, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, RUBINSTEIN-TAYBI SYNDROME 2, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, SPINOCEREBELLAR ATAXIA 42, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PEUTZ-JEGHERS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 1, RUBINSTEIN-TAYBI SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, PROTEUS SYNDROME, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

NCF1, ITGB3, CACNA1G, MYH11, CTNNB1, GJA1, EP300, LMNA, BLNK, EGFR, SMAD4, PRF1, ACTB, KCNJ10, TGFB1, IGF2, PSEN1, FLNA, CD40LG, TGFB3, IL6, TNF, ITGB4, TPM3, HLA-DRB1, PRKAG2, LEP, FOXP3, TNFRSF1A, PIK3CD, HLA-B, AKT1, BMP2, SMARCB1, ESR1, MYH7, CREBBP, STK11, COL2A1, CCND1, DST, TPM2, GNAS, CASP8, DES, KDR, PIK3CA, TP53, HSPD1, ITGA2B, HRAS, LAMA2, HLA-DQB1, TTN, TNNT2, AQP2, TJP2, SMAD3, ADCY6, BIN1, NEB, CFTR, ITGA6, HLA-DQA1, INS, ACTG2, PTEN, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, IMMUNODEFICIENCY 15, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PYRUVATE KINASE DEFICIENCY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PERIODIC FEVER, FAMILIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HEMOCHROMATOSIS, TYPE 2B, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, PEUTZ-JEGHERS SYNDROME, {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, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LOEYS-DIETZ SYNDROME 2, CHOROID PLEXUS PAPILLOMA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, TANGIER DISEASE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

NDUFS3, F2, NDUFB3, TP53, LARS, CASP8, MT-CO1, PTEN, MT-CO2, AR, NDUFA11, TGFB1, PIK3CA, PSEN1, INSR, FTL, IL6, NDUFA1, NDUFS4, AGT, NDUFS7, PPARG, HMGCS2, BCS1L, CYC1, SDHB, LEP, NOS3, AKT2, NDUFV2, ABCA1, CTNNB1, NDUFB9, ESR1, NDUFS1, STK11, PIK3CD, CCND1, PIK3R1, COX6B1, FASLG, COX4I2, SDHC, INS, IKBKB, NDUFS6, EIF2AK3, ITCH, NDUFS2, MT-CO3, AKT1, HRAS, EGFR, SNCA, PRKAG2, COX8A, PCNA, HAMP, TNFRSF1A, TNF, STAT3, PKLR, DDOST, UQCRB, FAS, JAK2, TGFBR2, NDUFV1

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, CLOVE SYNDROME, SOMATIC, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, {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, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PROTEUS SYNDROME, SOMATIC, CHOROID PLEXUS PAPILLOMA

NRAS, KRAS, AXIN2, MAP2K2, SMAD4, PSEN1, MLH1, INSR, AKT2, AKT1, CTNNB1, AXIN1, PIK3CD, CCND1, JAK2, EP300, PIK3CA, TP53, APC, HRAS, EGFR, PTEN, SMAD3, ESR1, BRAF, PIK3R1

CLOVE SYNDROME, SOMATIC, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, LEUKODYSTROPHY, HYPOMYELINATING, 4, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC

FASLG, FAS, TSHB, IL6, TNF, CTLA4, JAK2, HLA-DRB1, STAT1, HLA-DQB1, STAT3, HLA-B, PRF1, EGFR, HLA-DQA1, INS, CD40LG, PIK3CA, TGFB1, HRAS, HSPD1

COFFIN-SIRIS SYNDROME 3, HYPOBETALIPOPROTEINEMIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, LEUKODYSTROPHY, HYPOMYELINATING, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?IMMUNODEFICIENCY 22, COFFIN-SIRIS SYNDROME 4, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, POLYCYTHEMIA VERA, SOMATIC, CHOROID PLEXUS PAPILLOMA

LCK, APOB, SMARCB1, AR, CIITA, RFXANK, STAT1, IL6, TNF, RFX5, LEP, HLA-B, RFXAP, SMARCA4, CCND1, TP53, HLA-DRB1, HSPD1, HLA-DQB1, DNMT3B, HLA-DQA1, JAK2

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NOONAN SYNDROME 7, MULTIPLE ENDOCRINE NEOPLASIA IIA, CARDIOFACIOCUTANEOUS SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MULTIPLE ENDOCRINE NEOPLASIA IIB, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 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, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, RUBINSTEIN-TAYBI SYNDROME 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CHOROID PLEXUS PAPILLOMA

NRAS, TBP, BRAF, CCND1, SMAD3, TP53, PPARG, SMAD4, MAP2K2, ESR1, PAX8, RET, EP300, CTNNB1, KRAS, TPM3, HRAS

IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, POLYCYTHEMIA VERA, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}

FASLG, TNF, JAK2, HLA-DRB1, IL2RA, CD40LG, HLA-DQB1, HLA-B, PRF1, HLA-DQA1, FAS

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, IMMUNODEFICIENCY 15, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 14, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, CLOVE SYNDROME, SOMATIC, NOONAN SYNDROME 7, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, 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, APERT SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, TRIGONOCEPHALY 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, PROTEUS SYNDROME, SOMATIC, CHOROID PLEXUS PAPILLOMA

DYRK1B, F2, KRAS, PRKCD, NRAS, MAP2K2, SMAD4, AR, NOTCH1, IL6, TNF, FGFR1, INSR, AKT2, AKT1, CTNNB1, FGFR2, PIK3CD, CCND1, NFKBIA, PDGFRA, IKBKB, EP300, PIK3CA, TP53, HRAS, EGFR, PTEN, SMAD3, CREBBP, ESR1, BRAF, INS, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?INFANTILE LIVER FAILURE SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, WRINKLY SKIN SYNDROME, SPHEROCYTOSIS, TYPE 4, HYPERCHLORHIDROSIS, ISOLATED, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PARKINSON DISEASE 1, PROTEUS SYNDROME, SOMATIC, ETHYLMALONIC ENCEPHALOPATHY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CRYOHYDROCYTOSIS, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, RENAL TUBULAR ACIDOSIS, DISTAL, AR, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE VII, COFFIN-LOWRY SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, CHOROID PLEXUS PAPILLOMA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

LARS, TCIRG1, CTNNB1, TP53, NDUFS3, SCO2, MT-CO1, BCS1L, ETHE1, MT-ND4, NDUFA11, MT-CO3, ATP6V1B2, NDUFB9, NDUFS7, MT-CO2, NDUFS4, NDUFV2, NDUFB3, CPS1, NDUFS1, GLUD2, COX6B1, ATP6V0A2, NDUFS6, SDHC, MT-ND5, COX15, COX4I2, PFKM, NDUFS2, SLC4A1, HSPD1, AKT1, SNCA, CA12, NDUFA1, COX8A, MT-ND1, COX14, MT-ND6, RPS6KA3, SDHB, DDOST, AXIN1, UQCRB, INS, MT-ND3, COX10, CYC1, NDUFV1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), IMMUNODEFICIENCY 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MULTIPLE SULFATASE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, GAUCHER DISEASE, PERINATAL LETHAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, 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, MULTIPLE ENDOCRINE NEOPLASIA IIB, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, D-BIFUNCTIONAL PROTEIN DEFICIENCY, 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, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), FARBER LIPOGRANULOMATOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, MUCOLIPIDOSIS II ALPHA/BETA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, 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, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), RUBINSTEIN-TAYBI SYNDROME, GAUCHER DISEASE, TYPE IIIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, FUCOSIDOSIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, WRINKLY SKIN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NIEMANN-PICK DISEASE TYPE C1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, FEINGOLD SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ?IMMUNODEFICIENCY 22, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PEUTZ-JEGHERS SYNDROME, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PEROXISOME BIOGENESIS DISORDER 14B, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS II, 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, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CHYLOMICRON RETENTION DISEASE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), SADDAN, HYPER-IGD SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, COMBINED SAP DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, PEROXISOME BIOGENESIS DISORDER 4B, HMG-COA SYNTHASE-2 DEFICIENCY, MUCOLIPIDOSIS IV, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, AMYOTROPHIC LATERAL SCLEROSIS 17, GAUCHER DISEASE, TYPE I, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BEARE-STEVENSON CUTIS GYRATA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE III, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, 3MC SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NIEMANN-PICK DISEASE, TYPE A, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, GM1-GANGLIOSIDOSIS, TYPE I, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3B, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, NIEMANN-PICK DISEASE, TYPE C2, TRIFUNCTIONAL PROTEIN DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), OTOPALATODIGITAL SYNDROME, TYPE I, LEUKODYSTROPHY, HYPOMYELINATING, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS VII, IMMUNODEFICIENCY, COMMON VARIABLE, 7, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LEUKODYSTROPHY, HYPOMYELINATING, 12, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, MUCOPOLYSACCHARIDOSIS IH/S, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CHILD SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, METACHROMATIC LEUKODYSTROPHY, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, ALAGILLE SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, KRABBE DISEASE, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, LOEYS-DIETZ SYNDROME 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MALONYL-COA DECARBOXYLASE DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ZIMMERMANN-LABAND SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ASPARTYLGLUCOSAMINURIA, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, PEROXISOME BIOGENESIS DISORDER 8B, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), PYRUVATE CARBOXYLASE DEFICIENCY, GLANZMANN THROMBASTHENIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, KARTAGENER SYNDROME, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, 3MC SYNDROME 1, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DYSAUTONOMIA, FAMILIAL, AGAMMAGLOBULINEMIA 3, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, DIABETES INSIPIDUS, NEPHROGENIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, GAUCHER DISEASE, TYPE II, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IVA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, PROTEUS SYNDROME, SOMATIC

PEX14, MPV17, SFTPA2, SQSTM1, ASAH1, APOB, COL1A1, CTNS, ACOX1, GAA, ACTB, FUCA1, GNAS, IGF2R, PEX6, ALDOA, F2, GUSB, AGT, PPARG, LEP, LRRK2, NPC1, NSDHL, GJA1, IDUA, BAAT, STK11, MAN2B1, FOLR1, PEX13, IKBKAP, PNPLA2, MMP1, DNM2, PIK3CA, GALNS, NCF4, PRF1, JAG1, GFI1B, TGFBR2, DNAI2, TBK1, HLA-DQA1, IL2RG, RAD21, DYNC2H1, AQP2, HMGCS2, MCOLN1, PEX26, APOA1, CASP8, EGFR, CREBBP, NME1, IGF2, IDS, ZAP70, NOS3, AGPAT2, MYCN, TNF, CBS, IL21, AMACR, NOD2, NEU1, MET, SCARB2, AKT2, DHFR, HGSNAT, CEL, GLA, NFKBIA, CD40LG, PFKM, DVL1, PDGFRA, TCIRG1, EP300, TGFB3, TAF1, ATP6V1B2, AP1S1, ATP6V0A2, COLEC11, ABCD4, CASR, GNS, SUMF1, BIN1, NPC2, STAT3, INS, PAM16, FCGR2A, NCF1, NCF2, KCNJ11, AGL, SLC35A2, IL2RA, SSR4, SFTPA1, CTNNB1, SMAD4, DVL3, SMPD1, GNPTAB, PEX19, INSR, MVK, HLA-DRB1, GMPPB, PEX11B, HSPD1, NFKB2, LRP2, BMP2, VPS35, AKT1, KRAS, CYBB, MRPL3, CFTR, PRKCD, PEX3, SEC63, LIPA, HFE, IKBKB, PLAU, CHMP2B, GALC, SNCA, SGSH, ITCH, UBQLN2, NOTCH3, MUSK, FGFR3, ABCD3, CIITA, ACVRL1, DDOST, BTK, TUBB4A, KIT, SCYL1, SAR1B, LCK, PEX1, HSD17B4, FLNA, DNAJC13, VPS45, PSAP, MASP1, KRT8, ATXN2, SLC17A5, TGFB1, PEX12, THBS4, NAGLU, SPG7, CD79A, HADHB, STAT1, ESR1, VPS11, GLB1, HLA-B, PLG, FADD, TP53, FGFR2, PACS1, TINF2, IL6, GBA, UBE3A, CYBA, RPL11, PMS2, L1CAM, STX11, RET, AGA, MLYCD, JAM3, HRAS, PEX16, HLA-DQB1, AP3B1, OCLN, SMAD3, PEX2, HSPG2, CR2, ITGB3, ARSB, KDR, ABCD1, PC, ARSA, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, PROTEUS SYNDROME, SOMATIC, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, OVARIAN HYPERSTIMULATION SYNDROME, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, COFFIN-LOWRY SYNDROME

PCNA, NDUFS3, PARK7, NDUFB3, NDUFS1, PINK1, MT-CO1, SDHC, MT-ND4, NDUFA11, GNAS, CCND1, NDUFA1, TPM3, MT-CO2, SLC6A3, NDUFS4, NDUFV2, CTNNB1, AXIN1, FSHR, SNCAIP, PARK2, COX6B1, COX4I2, MT-ND5, SUCLA2, NDUFS2, MT-CO3, AKT1, SNCA, NDUFS6, HSPA9, COX8A, LRRK2, MT-ND1, MT-ND6, RPS6KA3, CYC1, SDHB, DDOST, NDUFB9, UQCRB, INS, MT-ND3, NDUFS7, NDUFV1

ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MEVALONIC ACIDURIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), PEROXISOME BIOGENESIS DISORDER 14B, MALONYL-COA DECARBOXYLASE DEFICIENCY, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 3B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, TRIFUNCTIONAL PROTEIN DEFICIENCY, HYPER-IGD SYNDROME, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, ALAGILLE SYNDROME, LOEYS-DIETZ SYNDROME 3, D-BIFUNCTIONAL PROTEIN DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 8B, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4B, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CHILD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}

PEX1, PEX14, MLYCD, PEX26, ACOX1, PEX2, HSD17B4, PEX6, PEX12, PEX11B, AGT, HADHB, AMACR, NSDHL, CTNNB1, MVK, BAAT, PEX3, MPV17, PEX19, ABCD1, PEX16, PEX13, ABCD4, JAG1, SMAD3, ABCD3, IKBKAP, DHFR

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, 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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RUBINSTEIN-TAYBI SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 19, AGAMMAGLOBULINEMIA 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, KAPPA LIGHT CHAIN DEFICIENCY, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY, COMMON VARIABLE, 2, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, ?IMMUNODEFICIENCY 22, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY

LCK, TNFRSF13B, AICDA, SMARCA4, BLNK, CD3D, RAG1, CIITA, RFXANK, CD40LG, DCLRE1C, CD79A, IGKC, STAT1, CD3E, RFX5, NOTCH1, RFXAP, IL7R, BTK, ICOS, CCND1, NFKBIA, IGHM, ADA, RAG2, ZAP70, CREBBP, JAK3, PTPRC, IL2RG, AIRE

CLOVE SYNDROME, SOMATIC, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LEUKODYSTROPHY, HYPOMYELINATING, 4, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {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, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PERIODIC FEVER, FAMILIAL, {CELIAC DISEASE, SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC

HLA-DQB1, FASLG, IL6, TNF, HSPD1, PTEN, HLA-DRB1, INS, PRF1, HLA-B, HMGCS2, HLA-DQA1, FAS, PIK3CA, CTLA4, JAK2, TNFRSF1A

CLOVE SYNDROME, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 22

LCK, FASLG, HLA-DRB1, IL6, TNF, HLA-DQB1, HLA-B, PRF1, HLA-DQA1, FAS, PIK3CA, PIK3R1

GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS TYPE IIID, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MUCOPOLYSACCHARIDOSIS IH/S, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), UROFACIAL SYNDROME 1, 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, TGFB1, HPSE2, HSPG2, IDS, IDUA, HGSNAT, NEU1, GUSB, GNS, GALNS

CLOVE SYNDROME, SOMATIC, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RUBINSTEIN-TAYBI SYNDROME 2, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?DYSTONIA, JUVENILE-ONSET, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, BANNAYAN-RILEY-RUVALCABA SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, {CELIAC DISEASE, SUSCEPTIBILITY TO}

FASLG, MYH7, HLA-DQA1, CCND1, TNF, PTEN, HLA-DRB1, CD40LG, CASP8, HLA-DQB1, HLA-B, PRF1, ACTB, EP300, LAMA2, HSPD1, PIK3CA, PIK3R1