ABDOMEN

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BASAL CELL NEVUS SYNDROME, HETEROTAXY, VISCERAL, 5, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?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, ?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, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, AGAMMAGLOBULINEMIA, X-LINKED 1, PITT-HOPKINS SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, 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, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, KAPPA LIGHT CHAIN DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, CARPENTER SYNDROME, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ARGININEMIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FUMARASE DEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, OTOPALATODIGITAL SYNDROME, TYPE I, ?DYSTONIA, JUVENILE-ONSET, COMMON VARIABLE IMMUNODEFICIENCY 1, COFFIN-SIRIS SYNDROME 4, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, 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, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, OHDO SYNDROME, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, OPITZ-KAVEGGIA SYNDROME, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, 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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, GLANZMANN THROMBASTHENIA, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, HYPOBETALIPOPROTEINEMIA, CONGENITAL DISORDER OF DEGLYCOSYLATION, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), LYMPHOPROLIFERATIVE SYNDROME 2, MECKEL SYNDROME 4, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC

PEX14, PARK7, APOB, NGLY1, ACTB, PSEN1, KRIT1, AGT, IGKC, PPARG, LRRK2, ASCC1, PKD1, NLRP12, FH, MMP1, PIK3CA, BMPER, TBK1, SLC9A3, ACTA1, SHMT1, SOX2, AXIN2, CASP8, CREBBP, AR, NOS3, THRA, CCND1, TNF, EDNRA, CHRM3, LEP, AKT2, CD27, GJA1, ABCC2, MRPL44, MET, NFKBIA, STAT1, GLIS3, EP300, HSPD1, TNFRSF1A, STX11, WAS, INS, ARG1, ACVR1B, FASLG, ITGB3, CTNNB1, SUFU, SMAD4, DVL3, CEP290, CD40LG, TGFB3, LRP5, CASR, NFKB2, VHL, BMP2, VPS35, AKT1, SMARCA4, AXIN1, VDR, WNT5A, CFTR, ATXN1, RAB23, TP53, EGFR, MED17, EZH2, GLI3, SNCA, PTEN, NOD2, BTK, ITGA6, FLNA, NODAL, BCL10, RFXANK, DVL1, SPG7, TGFB1, STAT3, PCNA, TCF4, NOTCH1, MED12, RBCK1, IL6, CPOX, BDNF, HRAS, LRP2, AP3B1, SMAD3, ESR1, KDR, JAK2, ACTG2, PIK3R1

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, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, GLANZMANN THROMBASTHENIA, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, 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, SICKLE CELL ANEMIA, SPHEROCYTOSIS, TYPE 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, HERMANSKY-PUDLAK SYNDROME 1, STORMORKEN SYNDROME, LOEYS-DIETZ SYNDROME 2, STROMME SYNDROME, 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, 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, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MOYAMOYA 6 WITH ACHALASIA, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, 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, FANCONI ANEMIA, COMPLEMENTATION GROUP O, 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, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, 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, HERMANSKY-PUDLAK SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, 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, CORNELIA DE LANGE SYNDROME 3, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 14, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, ANGIOEDEMA, HEREDITARY, TYPES I AND II, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, FRAGILE X TREMOR/ATAXIA SYNDROME, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, {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, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DUBIN-JOHNSON SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, 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, LEUKODYSTROPHY, HYPOMYELINATING, 12, DIABETES INSIPIDUS, NEPHROGENIC, NOONAN SYNDROME 7, 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, PALLISTER-HALL SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, GRAY PLATELET 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, CHEDIAK-HIGASHI SYNDROME, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 7, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

BRCA2, TRIM32, F2, HBB, FGFR1, APOB, COL1A1, ABCC2, VPS11, ACTB, FAS, STIM1, GNAS, CIITA, CDT1, PSEN1, ANK1, KLF1, ALDOA, AGT, IGKC, PPARG, LEP, SOX2, UBQLN2, ITGA2B, PKD1, FGA, MYH7, STK11, FMR1, EFEMP2, CLASP1, COL2A1, MMP1, DNM2, DES, PIK3CA, PRF1, CDC73, GFI1B, FGG, SERPING1, TBK1, SLC9A3, CTNNB1, MUSK, ACTA1, GP1BA, FBLN5, APOA1, PDE10A, PLAU, SERPINA1, CREBBP, AR, IGF2, ZAP70, NOS3, GP1BB, SLC16A1, TNF, CENPF, ITGB4, EDNRA, CHRM3, SCARB2, PIK3CD, ABCA1, FSHR, SMARCE1, GUCY1A3, CCND1, JAK2, CD40LG, AVPR2, EP300, HSPD1, SLC7A7, GP9, PCNA, BIN1, RPS6KA3, STAT3, PTPRC, INS, ABCC8, JAM3, GATA1, FCGR2A, TTR, ITGB3, GJA1, IL2RA, NRAS, SMAD4, HNF4A, FGB, F12, MECP2, HLA-DRB1, TGFB3, ITK, CASR, VHL, HBG2, BMP2, FOXP3, HRAS, AKT1, KRAS, INPPL1, DTNBP1, ATXN1, TP53, UBE3A, EGFR, AXIN1, EZH2, GLI3, SNCA, RAD51C, TTN, EFNB1, PTEN, BRAF, ACVRL1, PSTPIP1, TUBB4A, ITGA6, KIT, GSC, LCK, SERPINC1, SH2B3, FLNA, SMAD3, PSAP, PRKCD, HNRNPK, SMC3, CLDN1, LYST, GATA6, TBP, CFTR, AP3B1, TGFB1, STAT1, WAS, MT-CO2, INSR, NOTCH1, PLG, VPS45, ITCH, FGFR2, PLCG2, NBEAL2, IL6, FTH1, L1CAM, BDNF, RET, CTCF, APC, HPS1, EDNRB, LRP2, MYH11, ADCY6, HSPG2, ESR1, TGFBR2, KDR, SH2D1A, HFE, PIK3R1

ADAMS-OLIVER SYNDROME 5, POLYCYTHEMIA VERA, SOMATIC, PROLIDASE DEFICIENCY, FIBROCHONDROGENESIS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SMED STRUDWICK TYPE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?OSTEOGENESIS IMPERFECTA, TYPE X, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, KNIEST DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIC, MYASTHENIC SYNDROME, CONGENITAL, 19, EHLERS-DANLOS SYNDROME, TYPE IV, {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, WAARDENBURG SYNDROME, TYPE 4C, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PCWH SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ARGININEMIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, FIBROCHONDROGENESIS 1, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

COL3A1, F2, PKD1, COL1A1, AR, TNF, TGFB1, PEPD, CD40LG, TBP, COL11A1, COL11A2, VHL, BMP2, COL5A1, LEP, COL5A2, AKT1, TP53, SOX10, IL6, JAK2, MMP1, ADAM17, SERPINH1, NOTCH1, ADAMTS2, COL13A1, TNXB, SMAD3, AGT, STAT3, PIK3R1, COL2A1, INS, ARG1, COL7A1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BASAL CELL NEVUS SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, DIGEORGE SYNDROME, FRASER SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIARRHEA 6, NON-IMMUNE HYDROPS FETALIS, WAARDENBURG SYNDROME, TYPE 4B, 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, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, HOLOPROSENCEPHALY-7, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, GLANZMANN THROMBASTHENIA, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, MITCHELL-RILEY SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CORNELIA DE LANGE SYNDROME 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, SPINOCEREBELLAR ATAXIA 42, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE 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, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, ?IMMUNODEFICIENCY 22, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, ULNAR-MAMMARY SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, MECONIUM ILEUS, 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, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LOEYS-DIETZ SYNDROME 3, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, OVARIAN HYPERSTIMULATION SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, VELOCARDIOFACIAL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, 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, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, KAPPA LIGHT CHAIN DEFICIENCY, PRADER-WILLI SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OPSISMODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA 1, HERMANSKY-PUDLAK SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, IVIC SYNDROME, ARGININEMIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, PANCREATIC AGENESIS 1, POLYCYTHEMIA VERA, SOMATIC, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, WISKOTT-ALDRICH SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, OTOPALATODIGITAL SYNDROME, TYPE I, LACTASE PERSISTENCE/NONPERSISTENCE, COFFIN-SIRIS SYNDROME 4, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SPINOCEREBELLAR ATAXIA 1, PSORIASIS 14, PUSTULAR, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, ALAGILLE SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 7, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {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, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, ?CHARGE SYNDROME, CHARGE SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, OPITZ GBBB SYNDROME, TYPE I, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, LOEYS-DIETZ SYNDROME 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, COPROPORPHYRIA, HARDEROPORPHYRIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MUIR-TORRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, DIABETES INSIPIDUS, NEPHROGENIC, SPLENIC HYPOPLASIA, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, NOONAN SYNDROME 7, LYMPHOPROLIFERATIVE SYNDROME 1, HYPOBETALIPOPROTEINEMIA, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, SENIOR-LOKEN SYNDROME 9, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, RUBINSTEIN-TAYBI SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, DYSAUTONOMIA, FAMILIAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ?PRUNE BELLY SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, PROTEUS SYNDROME, SOMATIC

TSC2, NEU1, PARK7, APOB, LMNA, COL1A1, SALL1, VPS11, FERMT3, CIITA, PSEN1, SMARCA4, EFTUD2, CYP11B2, F2, TBX3, AGT, IGKC, MCM6, PPARG, LEP, LRRK2, SPINK1, SLC6A3, ITGA2B, SLC2A2, BTK, SHANK3, FGA, PLAU, STK11, HADH, SALL4, DNM2, PTCH1, PIK3CA, SERPINH1, WNK1, PRF1, BMPER, JAG1, GFI1B, FGG, RFX6, CREBBP, IKBKAP, CTNNB1, SF3B4, MUSK, ACTA1, GRIP1, ACADM, KRAS, GJA1, APOA1, FSHR, CASP8, PTPRC, NKX2-5, ADCY6, AR, GNAS, NOS3, THRA, SNCAIP, BUB1B, IL21, HLA-DRB1, FGFR1, NOD2, MID1, TAF6, ABCA1, NFKBIA, MEGF10, SMARCE1, ABCC2, CCND1, MET, JAK2, CD40LG, EDN3, LRP5, EXOC8, AVPR2, GLIS3, SUCLA2, MEN1, EP300, NDUFS2, TAF1, HSPD1, ROR2, NLRC4, GUCY2C, ITK, PCNA, CHD7, RPS6KA3, GPHN, TBX1, ACD, ABCC8, JAM3, ARG1, PAX8, LCK, NCF1, TTR, GLRA1, KCNJ11, CACNA1G, TRAF3IP1, KCNN4, ZAP70, SMAD4, DVL3, FGB, GDNF, NDUFAF2, STAT1, TGFB3, FLNA, CASR, CTLA4, GCK, HNF4A, BMP2, FOXP3, HRAS, IL36RN, NDN, SLC16A1, AKT1, SOX2, INPPL1, PCSK1, WNT5A, ASCL1, DTNBP1, PARK2, WAS, TP53, UBE3A, EGFR, IKBKB, PTS, AQP2, SNCA, PSTPIP1, PTEN, IL1RN, SERPINA1, BRAF, ACVRL1, DDOST, NLRP12, STAT3, AHI1, PFKM, SSR4, SLC2A1, CHRNE, SMAD3, BIN1, PRKCD, PINK1, NOTCH1, TGFB1, CHRM3, JAK3, TBP, CFTR, SPG7, ITGB4, ESR1, MT-CO2, ATXN1, INSR, PKLR, PLG, FADD, PITX2, MSH2, KDR, IL6, SEC63, CPT1A, CPOX, INS, STX11, BDNF, PLA2G6, RET, CTNS, NTF3, FOXF1, SMC3, EDNRB, FASLG, AP3B1, ADA, PDX1, OCLN, MYH11, HSPG2, TNF, CR2, ITGB3, TGFBR2, TINF2, ACTG2, KRIT1, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, BASAL CELL NEVUS SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIARRHEA 6, NON-IMMUNE HYDROPS FETALIS, WAARDENBURG SYNDROME, TYPE 4B, 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, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, MELNICK-NEEDLES SYNDROME, HOLOPROSENCEPHALY-7, MYOTUBULAR MYOPATHY, X-LINKED, 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, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, SPINOCEREBELLAR ATAXIA 42, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ULNAR-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DUANE-RADIAL RAY SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, ?IMMUNODEFICIENCY 22, LEUKODYSTROPHY, HYPOMYELINATING, 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, MECONIUM ILEUS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MISMATCH REPAIR CANCER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LOEYS-DIETZ SYNDROME 3, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, KAPPA LIGHT CHAIN DEFICIENCY, OPSISMODYSPLASIA, HERMANSKY-PUDLAK SYNDROME 2, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, IVIC SYNDROME, ARGININEMIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PANCREATIC AGENESIS 1, POLYCYTHEMIA VERA, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, BANNAYAN-RILEY-RUVALCABA SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, OTOPALATODIGITAL SYNDROME, TYPE I, COFFIN-SIRIS SYNDROME 4, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, VISCERAL MYOPATHY, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, WISKOTT-ALDRICH SYNDROME, {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, SENIOR-LOKEN SYNDROME 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, OPITZ GBBB SYNDROME, TYPE I, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LEPRECHAUNISM, MUIR-TORRE SYNDROME, GLANZMANN THROMBASTHENIA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, DIABETES INSIPIDUS, NEPHROGENIC, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, RUBINSTEIN-TAYBI SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, HERMANSKY-PUDLAK SYNDROME 7, PROTEUS SYNDROME, SOMATIC

LMNA, NEU1, F2, WNT5A, COL1A1, SALL1, GNAS, CIITA, PSEN1, CYP11B2, NTF3, AGT, IGKC, PPARG, NOD2, SLC6A3, NLRC4, ITGA2B, TRAF3IP1, NLRP12, FGA, SALL4, DNM2, PIK3CA, FGG, CREBBP, IKBKAP, GPHN, MUSK, ACTA1, KRAS, APOA1, PLAU, AR, FERMT3, NOS3, TNF, IL21, SHANK3, MID1, LEP, MEGF10, CCND1, MET, JAK2, HLA-DRB1, EDN3, AVPR2, SUCLA2, PFKM, EP300, GDNF, HSPD1, TBX3, GUCY2C, ITK, PCNA, WAS, ACD, JAM3, ARG1, PTCH1, TTR, GLRA1, ITGB3, CACNA1G, GJA1, KCNN4, DVL3, FGB, STAT1, TGFB3, FLNA, CASR, GCK, HRAS, AKT1, SMARCA4, INPPL1, CFTR, ATXN1, TP53, EGFR, IKBKB, SNCA, PTEN, ACADM, ACVRL1, LCK, SLC2A1, CHRNE, ZAP70, PRKCD, PINK1, TGFB1, CHRM3, DTNBP1, SPG7, STAT3, INSR, PLG, FADD, MSH2, IL6, INS, STX11, PLA2G6, CTNS, EDNRB, FASLG, AP3B1, OCLN, SMAD3, HSPG2, ESR1, PIK3R1, TINF2, ACTG2, PDX1

ADAMS-OLIVER SYNDROME 5, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, POLYCYTHEMIA VERA, SOMATIC, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LACTASE PERSISTENCE/NONPERSISTENCE, BANNAYAN-RILEY-RUVALCABA SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 8, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PYRUVATE KINASE DEFICIENCY, 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, SPINOCEREBELLAR ATAXIA 1, PSORIASIS 14, PUSTULAR, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PARKINSON DISEASE 1, CORNELIA DE LANGE SYNDROME 3, GLANZMANN THROMBASTHENIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VISCERAL MYOPATHY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, DIABETES INSIPIDUS, NEPHROGENIC, LOEYS-DIETZ SYNDROME 3, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NOONAN SYNDROME 7, OPSISMODYSPLASIA, HYPOBETALIPOPROTEINEMIA, OVARIAN HYPERSTIMULATION SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DYSAUTONOMIA, FAMILIAL, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, 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, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, CARDIOFACIOCUTANEOUS SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, DIAPHANOSPONDYLODYSOSTOSIS, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, PROTEUS SYNDROME, SOMATIC

FASLG, ITGB4, KCNJ11, CHRNE, MYH11, APOB, APOA1, STX11, SMAD4, PTEN, NOTCH1, DVL3, GNAS, TGFB1, PKLR, NDUFAF2, CD40LG, HADH, SPG7, LEP, AGT, FOXF1, PITX2, MCM6, NOD2, ATXN1, BMP2, FOXP3, NOS3, IL36RN, IL1RN, AKT1, ABCA1, TP53, NLRP12, SNCA, CCND1, ESR1, FSHR, BRAF, IL6, PARK2, JAK2, WNK1, EFTUD2, AVPR2, BDNF, EP300, HSPD1, ABCC8, HRAS, EGFR, BMPER, CASR, ADA, RPS7, SLC2A1, SMAD3, PCNA, HSPG2, TNF, STAT3, ITGB3, INPPL1, IKBKAP, INS, SMC3, SF3B4, GCK

HETEROTAXY, VISCERAL, 5, OTOPALATODIGITAL SYNDROME, TYPE II, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ADAMS-OLIVER SYNDROME 6, WAARDENBURG SYNDROME, TYPE 4B, 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, WAARDENBURG SYNDROME, TYPE 4A, MELNICK-NEEDLES SYNDROME, 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, DYSAUTONOMIA, FAMILIAL, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, TRIGONOCEPHALY 1, CARPENTER SYNDROME 2, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, ADAMS-OLIVER SYNDROME 5, DIGEORGE SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, 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, MOWAT-WILSON SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CRANIOFRONTONASAL DYSPLASIA, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, VELOCARDIOFACIAL SYNDROME, LOEYS-DIETZ SYNDROME 3, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, 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, KAPPA LIGHT CHAIN DEFICIENCY, AXENFELD-RIEGER SYNDROME, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, HERMANSKY-PUDLAK SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, WAARDENBURG SYNDROME, TYPE 4C, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, EPISODIC ATAXIA, TYPE 6, {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, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, COPROPORPHYRIA, HARDEROPORPHYRIA, POLYCYSTIC LIVER DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MUIR-TORRE SYNDROME, GLANZMANN THROMBASTHENIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPOBETALIPOPROTEINEMIA, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, CHOROID PLEXUS PAPILLOMA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, FASLG, LMNA, C3AR1, RET, ITGB3, TAF1, SMARCA4, APOB, NODAL, HNRNPK, PTPRC, ADA, CLASP1, KIT, TGFB1, GLI3, NOS3, AMH, CPOX, PITX2, TBP, F2, AP3B1, INS, AGT, IGKC, SNCA, FGFR1, IKBKAP, SOX2, BMP2, ZEB2, NOTCH1, PIK3CD, AKT1, IL6, EZH2, CTNNB1, MSH2, CCND1, ESR1, WNT5A, ITGA6, GFRA1, ENG, APOA1, MEGF8, GATA6, PHOX2B, LRP5, LRP2, BDNF, EDN3, MEN1, EP300, KDR, PIK3CA, TP53, PTEN, EDNRB, FLNA, GDNF, ITCH, WDPCP, CASR, GFI1B, EFNB1, DLL4, SLC1A3, SMAD3, CREBBP, HSPG2, TNF, STAT3, AKT2, SOX10, TBX1, PLG, ACD, SMC3, JAK2, COL2A1, ACVR1B

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, 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, 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, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, GLANZMANN THROMBASTHENIA, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, 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, SICKLE CELL ANEMIA, SPHEROCYTOSIS, TYPE 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, HERMANSKY-PUDLAK SYNDROME 1, STORMORKEN SYNDROME, LOEYS-DIETZ SYNDROME 2, STROMME SYNDROME, 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, 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, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MOYAMOYA 6 WITH ACHALASIA, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, 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, FANCONI ANEMIA, COMPLEMENTATION GROUP O, 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, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, 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, HERMANSKY-PUDLAK SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, 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, POLYCYTHEMIA VERA, SOMATIC, ?HEMOCHROMATOSIS, TYPE 5, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 14, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, ANGIOEDEMA, HEREDITARY, TYPES I AND II, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, FRAGILE X TREMOR/ATAXIA SYNDROME, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, {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, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DUBIN-JOHNSON SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, 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, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, LEUKODYSTROPHY, HYPOMYELINATING, 12, NOONAN SYNDROME 7, 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, PALLISTER-HALL SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, GRAY PLATELET 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, CHEDIAK-HIGASHI SYNDROME, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 7, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

BRCA2, TRIM32, F2, HBB, FGFR1, APOB, COL1A1, ABCC2, VPS11, ACTB, FAS, STIM1, GNAS, CIITA, CDT1, PSEN1, ANK1, KLF1, ALDOA, AGT, IGKC, PPARG, LEP, SOX2, UBQLN2, ITGA2B, PKD1, FGA, MYH7, STK11, FMR1, EFEMP2, CLASP1, COL2A1, MMP1, DNM2, DES, PIK3CA, PRF1, CDC73, GFI1B, FGG, SERPING1, TBK1, SLC9A3, CTNNB1, MUSK, ACTA1, GP1BA, FBLN5, APOA1, PDE10A, PLAU, SERPINA1, CREBBP, AR, IGF2, ZAP70, NOS3, GP1BB, SLC16A1, TNF, CENPF, ITGB4, EDNRA, CHRM3, SCARB2, PIK3CD, ABCA1, FSHR, SMARCE1, GUCY1A3, CCND1, JAK2, CD40LG, EP300, HSPD1, SLC7A7, GP9, PCNA, BIN1, RPS6KA3, STAT3, PTPRC, INS, ABCC8, JAM3, GATA1, FCGR2A, TTR, ITGB3, GJA1, IL2RA, NRAS, SMAD4, HNF4A, FGB, F12, MECP2, HLA-DRB1, TGFB3, ITK, CASR, VHL, HBG2, BMP2, FOXP3, HRAS, AKT1, KRAS, INPPL1, CFTR, ATXN1, TP53, UBE3A, EGFR, AXIN1, EZH2, GLI3, SNCA, RAD51C, TTN, EFNB1, PTEN, BRAF, ACVRL1, PSTPIP1, TUBB4A, ITGA6, KIT, GSC, LCK, SERPINC1, SH2B3, FLNA, SMAD3, PSAP, PRKCD, HNRNPK, SMC3, CLDN1, LYST, GATA6, TBP, DTNBP1, AP3B1, TGFB1, STAT1, WAS, MT-CO2, INSR, NOTCH1, PLG, VPS45, ITCH, FGFR2, PLCG2, NBEAL2, IL6, FTH1, L1CAM, BDNF, RET, CTCF, APC, HPS1, EDNRB, LRP2, MYH11, ADCY6, HSPG2, ESR1, TGFBR2, KDR, SH2D1A, HFE, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, BASAL CELL NEVUS SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?HEMOCHROMATOSIS, TYPE 5, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPLENIC HYPOPLASIA, MELNICK-NEEDLES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, GLANZMANN THROMBASTHENIA, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CARDIOFACIOCUTANEOUS SYNDROME, 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, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, HOLOPROSENCEPHALY-7, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, WIEDEMANN-STEINER SYNDROME, TRIGONOCEPHALY 1, CARPENTER SYNDROME 2, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HEMOCHROMATOSIS, TYPE 2A, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, CORPUS CALLOSUM, PARTIAL AGENESIS OF, BECKWITH-WIEDEMANN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MECKEL SYNDROME 10, 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, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PEUTZ-JEGHERS SYNDROME, PHELAN-MCDERMID SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DIAPHANOSPONDYLODYSOSTOSIS, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LOEYS-DIETZ SYNDROME 3, YUNIS-VARON SYNDROME, ANGELMAN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, 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, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, BLEEDING DISORDER, PLATELET-TYPE, 17, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, 3-M SYNDROME 1, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, FUMARASE DEFICIENCY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, OTOPALATODIGITAL SYNDROME, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, ?DYSTONIA, JUVENILE-ONSET, COFFIN-SIRIS SYNDROME 4, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, VISCERAL MYOPATHY, ALAGILLE SYNDROME, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HOLOPROSENCEPHALY 11, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, FRAGILE X TREMOR/ATAXIA SYNDROME, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CORNELIA DE LANGE SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, PARAMYOTONIA CONGENITA, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, {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, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMED STRUDWICK TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RETT SYNDROME, CONGENITAL VARIANT, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, HERMANSKY-PUDLAK SYNDROME 7, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

LMNA, F2, FGFR1, LRP4, COL1A1, SALL1, ACTB, GNAS, PSEN1, DGUOK, FTL, NTF3, AGT, PPARG, LRRK2, SOX2, ASCC1, NCF4, WNT5A, STK11, FMR1, CDKN1C, FH, KLF1, DNM2, PIK3CA, NEUROG3, EFEMP2, BMPER, JAG1, GFI1B, CREBBP, COL2A1, CUL7, PTEN, FIG4, ACTA1, SCN4A, KRAS, AXIN2, EGFR, NKX2-5, ADCY6, NME1, ZAP70, NOS3, THRA, MAPT, TNF, EDNRA, SHANK3, KCNJ10, SQSTM1, FAT3, B9D2, CNTNAP1, CCND1, MET, NFKBIA, KAT6B, EP300, GDNF, HSPD1, MEGF8, PCNA, RPS6KA3, WAS, PTPRC, SMC3, SMARCA4, GATA1, PTCH1, TTR, ITGB3, GJA1, CNTN5, SMAD4, MECP2, GRIP1, CASR, CNTN1, PITX2, PQBP1, BMP2, FOXG1, AKT1, RIPK4, SIK1, AXIN1, DTNBP1, ATXN1, TP53, FASLG, FBN1, EZH2, GLI3, SMC1A, MCM4, PSTPIP1, MUSK, CDKL5, CHRM3, STAT3, ITCH, LCK, AR, FLNA, CHRNE, MYH11, PRKCD, HNRNPK, PRKCSH, TGFB1, WNT3, FTH1, TBP, DVL1, GPHN, NOTCH1, FGFR2, BRAF, SCN11A, L1CAM, BDNF, CLASP1, RET, CDON, HRAS, LRP2, OCLN, SMAD3, ESR1, PIK3R1, KDR, HFE2

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ADAMS-OLIVER SYNDROME 5, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIGEORGE SYNDROME, NOONAN SYNDROME 7, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ADAMS-OLIVER SYNDROME 6, RUBINSTEIN-TAYBI SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DONNAI-BARROW SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PARKINSON DISEASE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, DIABETES INSIPIDUS, NEPHROGENIC, LOEYS-DIETZ SYNDROME 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ANGELMAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BEARE-STEVENSON CUTIS GYRATA 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, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, COFFIN-LOWRY SYNDROME, APERT SYNDROME, LOEYS-DIETZ SYNDROME 2, VELOCARDIOFACIAL SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, DUANE-RADIAL RAY SYNDROME, TRIGONOCEPHALY 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IVIC SYNDROME, IMMUNODEFICIENCY 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, TANGIER DISEASE, SADDAN, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, TSC2, DLL4, FGFR3, KRT8, APOA1, SHOC2, MAP2K2, CD3D, NOTCH1, ROR2, FAS, GNAS, TGFB1, IGF2, NOS3, INSR, RPS6KA3, CD40LG, CCND1, CASR, AGT, FGFR1, BMP2, CD3E, NRAS, LEP, HRAS, PIK3CD, AKT1, IL6, CEP57, KRAS, CPS1, VDR, ESR1, FGFR2, CREBBP, SMARCE1, BRAF, CFTR, PRKCD, ZHX2, UBE3A, LRP2, PDGFRA, SALL4, KIT, BDNF, LIPE, CLASP1, EP300, ATXN3, PIK3CA, TP53, PTEN, FGF20, EGFR, SNCA, KRIT1, GSC, SMAD3, AVPR2, ADCY6, HSPG2, TNF, STAT3, TBX1, INS, TGFBR2, PIK3R1

PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, SUPRANUCLEAR PALSY, PROGRESSIVE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, FRASER SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, COCKAYNE SYNDROME, TYPE B, ?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, POLYCYTHEMIA VERA, SOMATIC, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, GALLBLADDER DISEASE 1, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HYPOPHOSPHATASIA, INFANTILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, MEIER-GORLIN SYNDROME 5, ADENOMAS, MULTIPLE COLORECTAL, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, LEUKODYSTROPHY, HYPOMYELINATING, 4, SITOSTEROLEMIA, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, NIEMANN-PICK DISEASE TYPE C1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, LEPRECHAUNISM, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MULIBREY NANISM, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, 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, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, FANCONI ANEMIA, COMPLEMENTATION GROUP O, ROTHMUND-THOMSON SYNDROME, COFFIN-SIRIS SYNDROME 3, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, 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}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CHYLOMICRON RETENTION DISEASE, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HERMANSKY-PUDLAK SYNDROME 2, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, CARPENTER SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, COFFIN-LOWRY SYNDROME, COFFIN-SIRIS SYNDROME 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CORNELIA DE LANGE SYNDROME 3, LOWE SYNDROME, BURN-MCKEOWN SYNDROME, ?PRUNE BELLY SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), GALACTOSE EPIMERASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, CORNELIA DE LANGE SYNDROME 4, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?DYSTONIA, JUVENILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, BALLER-GEROLD SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, {AUTISM, SUSCEPTIBILITY TO, 18}, CLOVE SYNDROME, SOMATIC, FAMILIAL ADENOMATOUS POLYPOSIS 3, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, GALACTOSEMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MALONYL-COA DECARBOXYLASE DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PEROXISOME BIOGENESIS DISORDER 4B, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, GLANZMANN THROMBASTHENIA, LESCH-NYHAN SYNDROME, KARTAGENER SYNDROME, NOONAN SYNDROME 7, AICARDI-GOUTIERES SYNDROME 5, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, MEIER-GORLIN SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, CILIARY DYSKINESIA, PRIMARY, 29, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, CODAS SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, COLE DISEASE, DENT DISEASE 2, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, PROTEUS SYNDROME, SOMATIC

TSC2, BRCA2, MLYCD, MSH6, SQSTM1, DNAH11, RAD21, ACTB, PEX14, GNAS, CIITA, CDT1, PEX6, EFTUD2, ALPL, MLH1, AGT, PPARG, LRRK2, WNK1, DNAH5, CDC6, CTNNB1, EIF4A3, MYH7, CHD8, LIPE, KIF1B, RAD51C, ERCC6, DNM2, DES, PIK3CA, TRIM32, GALT, ABCD1, EXOC8, GFI1B, ERCC2, OCRL, MUTYH, CYC1, LIPT1, GTPBP3, ABCC2, DYNC2H1, KIF1A, PTEN, ACTA1, ATRX, GRIP1, KRAS, APOA1, ABCC6, ABCD3, NME1, PIGT, NOS3, GCH1, MAPT, CAD, RYR1, TAF6, GFM1, ABCA1, JAK2, EXOSC8, MEGF10, LONP1, CCND1, MET, NTHL1, TPM2, STAT1, VPS33B, MYH8, PFKM, TAF1, HSPD1, SAMHD1, ABCD4, KRIT1, TNNT2, RPS6KA3, ENPP1, STAT3, BRAF, INS, SMC3, ITGB4, ITGB3, HPRT1, NRAS, DNAH8, SMAD4, CBS, ABCG8, HLA-DRB1, GMPPB, FLNA, CASR, VHL, SMARCAL1, BMP2, SSR4, AKT1, SMARCA4, GALE, VDR, ASCL1, CFTR, PARK2, RAB23, TP53, UBE3A, ITPA, ABCB4, AXIN1, FECH, RECQL4, UBQLN2, DNAH1, PSTPIP1, NONO, NPC1, ABCB11, CHRM3, DDOST, TXNL4A, TUBB4A, POLR3B, POLA1, PEX1, AR, CCNO, VPS45, SMARCB1, PRKCD, ATXN2, LAMA2, TNF, ABCG5, TBP, DVL1, AP3B1, TGFB1, WAS, ORC1, INSR, CARD11, POLE, KIF7, MSH2, PDE10A, TINF2, IL6, SEC63, ABCC9, PMS2, RTEL1, PCNA, CLASP1, PEX19, PNP, ABCC8, HRAS, EGFR, ADA, NHP2, SMAD3, SAR1B, ESR1, TRIM37, SKIV2L, PIK3R1

BASAL CELL NEVUS SYNDROME, HETEROTAXY, VISCERAL, 5, OTOPALATODIGITAL SYNDROME, TYPE II, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ADAMS-OLIVER SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, MELNICK-NEEDLES SYNDROME, HOLOPROSENCEPHALY-7, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPOPHOSPHATASIA, INFANTILE, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PITT-HOPKINS SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, RENAL CYSTS AND DIABETES SYNDROME, PCWH SYNDROME, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COFFIN-SIRIS SYNDROME 3, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PRADER-WILLI SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, IVIC SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, 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, WEAVER SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OTOPALATODIGITAL SYNDROME, TYPE I, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALAGILLE SYNDROME, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, TRIGONOCEPHALY 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, 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, ?CHARGE SYNDROME, CHARGE SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, FIBROCHONDROGENESIS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {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, GELEOPHYSIC DYSPLASIA 2, SPLENIC HYPOPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, MUIR-TORRE SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

F2, WNT5A, COL1A1, SALL1, ACTB, TAPT1, GNAS, COL3A1, TBX3, AGT, COL11A2, PPARG, TCF4, COL5A1, GJA1, SOX10, MYH7, SALL4, CDKN1C, HNF1B, PIK3CA, BMPER, JAG1, AFG3L2, DLL4, CREBBP, SOX2, CTNNB1, SF3B4, PTCH1, CHD7, KRAS, PLAU, NKX2-5, IGF2, NOS3, MYCN, TNF, FGFR1, PSEN1, COL2A1, CCND1, MEN1, EP300, GSC, RPS6KA3, STAT3, INS, PAX8, TTR, ALPL, BMP1, SUFU, SMAD4, PITX2, VHL, HES7, BMP2, NDN, AKT1, SMARCA4, AXIN1, VDR, ATXN1, TP53, FBN1, ACVR1B, EZH2, GLI3, FBN2, TERT, PTEN, FGFR3, FLNA, SMARCB1, NODAL, CYBB, FOXG1, TGFB1, COL5A2, GATA6, SPG7, BCL10, INSR, NOTCH1, PLG, MSH2, CPOX, NKX3-2, GPC3, HRAS, EGFR, EIF2AK3, SMAD3, HSPG2, BUB1B, COL7A1, KDR, ARSB, PDX1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, LEUKODYSTROPHY, HYPOMYELINATING, 4, POLYCYTHEMIA VERA, SOMATIC, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HAJDU-CHENEY 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, PERIODIC FEVER, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 7, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {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, KAPPA LIGHT CHAIN DEFICIENCY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DUANE-RADIAL RAY SYNDROME, ALAGILLE SYNDROME 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IVIC SYNDROME, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

AR, SQSTM1, TGFB1, NOTCH2, TNF, IGKC, EDNRA, NOD2, FOXP3, HRAS, HLA-B, FADD, JAK2, SALL4, HSPD1, HFE, TNFRSF1A, FASLG, SH2D1A, CREBBP, CR2, PTPRC, STAT3, JAM3, IL21, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, NON-IMMUNE HYDROPS FETALIS, ROBINOW SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FIBROCHONDROGENESIS 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SMED STRUDWICK TYPE, LEPRECHAUNISM, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PEROXISOME BIOGENESIS DISORDER 3B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, ACHONDROGENESIS IB, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOPHOSPHATASIA, INFANTILE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, ALAGILLE SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, KNIEST DYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, OPSISMODYSPLASIA, SPINOCEREBELLAR ATAXIA 1, HYPOBETALIPOPROTEINEMIA, MYASTHENIC SYNDROME, CONGENITAL, 19, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, 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, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, WAARDENBURG SYNDROME, TYPE 4C, VAN MALDERGEM SYNDROME 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PCWH SYNDROME, GLYCOGEN STORAGE DISEASE VII, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, RUBINSTEIN-TAYBI SYNDROME, VAN MALDERGEM SYNDROME 1, DIAPHANOSPONDYLODYSOSTOSIS, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SADDAN, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC

ACTA1, DCHS1, PEX14, SLC26A2, FGFR3, CTNNB1, APOB, APOA1, COL1A1, FOXG1, TGFB1, FAT4, PSEN1, PEX12, THRA, CHRM3, TGFB3, ALDOA, CASR, AGT, COL11A2, PPARG, INSR, LEP, NOS3, AKT1, BMP2, FZD6, INPPL1, EXT2, WNT5A, F2, CCND1, ATXN1, AXIN2, JAK2, PEX13, GNAS, BDNF, PFKM, IL6, BMP1, CHAT, TP53, ACVRL1, HRAS, EGFR, ALPL, BMPER, EIF2AK3, JAG1, RYR1, ESR1, COL13A1, SMAD3, CREBBP, HSPG2, TNF, STAT3, SOX10, COL2A1, INS, GDF2, SCYL1, PITX2

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, LEUKODYSTROPHY, HYPOMYELINATING, 4, CHOROID PLEXUS PAPILLOMA, POLYCYTHEMIA VERA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CORNELIA DE LANGE SYNDROME 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HAJDU-CHENEY SYNDROME, 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, PERIODIC FEVER, FAMILIAL, RUBINSTEIN-TAYBI 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, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, DIABETES INSIPIDUS, NEPHROGENIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ANGELMAN SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COFFIN-SIRIS SYNDROME 3, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, DUANE-RADIAL RAY SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, KAPPA LIGHT CHAIN DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME 2, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, AGAMMAGLOBULINEMIA, X-LINKED 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ALAGILLE SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, IVIC SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

LCK, FASLG, PARK7, PPARG, SMARCA4, PRKCD, HNRNPK, PTEN, AR, FAS, SMC3, SQSTM1, TGFB1, GNAS, NOTCH2, CR2, STAT1, SLC2A1, TNF, FOXF1, IGKC, HLA-DRB1, EDNRA, NOD2, CD3E, FOXP3, MECP2, AKT2, HLA-B, AKT1, PITX2, IL7R, BTK, ESR1, GJA1, PTPRC, IL6, JAK2, SALL4, EXOSC3, AVPR2, EP300, TP53, HSPD1, JAM3, SMARCB1, EGFR, SH2D1A, STX11, CREBBP, JAK3, TNFRSF1A, STAT3, PNPT1, INS, HFE, IL21, PIK3R1, FADD

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, GALACTOSE EPIMERASE DEFICIENCY, HYPEREKPLEXIA HEREDITARY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, SESAME SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIARRHEA 6, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 5, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MEDNIK SYNDROME, PARKINSONISM-DYSTONIA, INFANTILE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PARKINSON DISEASE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYOTUBULAR MYOPATHY, X-LINKED, ANGELMAN SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), EPISODIC ATAXIA, TYPE 6, PITT-HOPKINS-LIKE SYNDROME 2, 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, PALLISTER-HALL SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MECONIUM ILEUS, CHOROID PLEXUS PAPILLOMA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

NCF1, PEX14, PARK7, SQSTM1, GJA1, PRKCD, COL1A1, QDPR, KCNJ10, TGFB1, GLI3, GCH1, DVL1, SLC1A3, AGT, PITX2, SLC6A3, MET, COLQ, AKT1, BMP2, GALE, VAMP1, SNCAIP, PARK2, TP53, UBE3A, NRXN1, BDNF, HNRNPK, DNM2, CHAT, AP1S1, SNCA, EGFR, GUCY2C, PTEN, ADCY6, GPHN, CFTR, MUSK, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BASAL CELL NEVUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTARICACIDURIA, TYPE I, D-BIFUNCTIONAL PROTEIN DEFICIENCY, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, HYPOPHOSPHATASIA, INFANTILE, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, TRIGONOCEPHALY 1, METHYLMALONYL-COA EPIMERASE DEFICIENCY, TYROSINEMIA, TYPE III, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPOYLTRANSFERASE 1 DEFICIENCY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COFFIN-SIRIS SYNDROME 3, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, STRIATONIGRAL DEGENERATION, INFANTILE, MYOPATHY, MYOFIBRILLAR, 1, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ALPHA-METHYLACETOACETIC ACIDURIA, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, ARGININEMIA, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 14, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NIEMANN-PICK DISEASE, TYPE A, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, VITAMIN D-DEPENDENT RICKETS, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PEROXISOME BIOGENESIS DISORDER 3B, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, COFFIN-SIRIS SYNDROME 4, ETHYLMALONIC ENCEPHALOPATHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, METHYLMALONIC ACIDURIA CBLB TYPE, ALAGILLE SYNDROME, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MUCOPOLYSACCHARIDOSIS IH/S, NIEMANN-PICK DISEASE, TYPE B, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LATHOSTEROLOSIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, CHOROID PLEXUS PAPILLOMA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, TYROSINEMIA, TYPE I, GALACTOSE EPIMERASE DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE II, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PYRUVATE CARBOXYLASE DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPOBETALIPOPROTEINEMIA, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, COENZYME Q10 DEFICIENCY, PRIMARY, 3, CPT II DEFICIENCY, LETHAL NEONATAL, ISOVALERIC ACIDEMIA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, PROTEUS SYNDROME, SOMATIC

LMNA, PEX14, FGFR1, APOB, CPT2, ACADS, AGT, PCCB, PPARG, ETHE1, HIBCH, MCCC2, SMPD1, IDUA, AKT2, HADH, LIPE, MCCC1, DES, ABCD1, CDC73, JAG1, DLD, SMAD4, LIPT1, IKBKAP, ACOX1, MMAA, SMARCA4, PLAU, QDPR, CD79A, NOS3, SHMT1, LMNB1, CAD, AKR1D1, AMACR, ALDH6A1, LEP, PIK3CD, HADHA, BCKDHA, CCND1, CEL, SC5D, EP300, MCEE, HSPD1, GCDH, BCKDHB, ACADVL, CYP24A1, STAT3, INS, PAM16, TTR, ALPL, ACAT1, CTNNB1, SUFU, INPP5E, NUP62, CBS, CYP27B1, STAT1, ARG1, VHL, HNF4A, AKT1, GALE, VDR, MUT, TP53, CASP8, DBT, UBQLN2, PEX13, PTEN, ACADM, ABCD3, INPPL1, FAH, OTC, ASNS, SMARCB1, PDSS2, HCCS, HSD17B4, ASL, PEX12, FTH1, HPD, HADHB, MT-CO2, PCCA, CPS1, GLUD2, IL6, CPT1A, PCNA, PEX19, PC, LIPA, IVD, PEX2, TNF, ESR1, EPM2A, DHFR, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, CHOROID PLEXUS PAPILLOMA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, CORNELIA DE LANGE SYNDROME 3, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PERIODIC FEVER, FAMILIAL, 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, OTOPALATODIGITAL SYNDROME, TYPE I, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, PYRUVATE KINASE DEFICIENCY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PARKINSON DISEASE 1, MELNICK-NEEDLES SYNDROME, RUBINSTEIN-TAYBI SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLANZMANN THROMBASTHENIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {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, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, 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}, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13

LCK, FASLG, TTR, PARK7, WNT5A, APOA1, CASP8, EGFR, FAS, TGFB1, CHRM3, PKLR, CD40LG, TGFB3, ITGB3, CASR, TNF, BCL10, IL21, STAT3, FOXP3, TNFRSF1A, FLNA, AKT1, BTK, ESR1, IRAK3, PTPRC, CCND1, IL6, TP53, STAT1, EP300, ACVRL1, SNCA, EXOSC3, CREBBP, JAK3, HSPG2, NOD2, PNPT1, INS, SMC3, PIK3R1, FADD

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LOEYS-DIETZ SYNDROME 5, COPROPORPHYRIA, HARDEROPORPHYRIA, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PEUTZ-JEGHERS SYNDROME, SPLENIC HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, COFFIN-SIRIS SYNDROME 4, LATERAL MENINGOCELE SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, HETEROTAXY, VISCERAL, 5, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PITT-HOPKINS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, {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, OLIGODONTIA-COLORECTAL CANCER SYNDROME, 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, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, ALAGILLE SYNDROME, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, RUBINSTEIN-TAYBI SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PROTEUS SYNDROME, SOMATIC

SMARCA4, AXIN2, HNF1B, NKX2-5, AR, ASCL1, COL1A1, TGFB1, NOTCH1, CPOX, TGFB3, CCND1, TBX3, AGT, PPARG, BMP2, TCF4, AKT1, SOX2, KDM6A, ESR1, STK11, DVL1, NODAL, JAK2, GATA6, PDGFRA, PKD1, FBN1, EZH2, EP300, TBP, GLI3, TP53, HRAS, CDC73, NOTCH3, JAG1, TGFBR2, SMAD3, SMAD4, CREBBP, STAT3, KDR, CTNNB1, PAX8

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, BASAL CELL NEVUS SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, FRASER SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, GLYCOGEN STORAGE DISEASE II, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?DYSTONIA, JUVENILE-ONSET, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ?HEMOCHROMATOSIS, TYPE 5, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, WIEDEMANN-STEINER SYNDROME, MELNICK-NEEDLES SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, HYPOBETALIPOPROTEINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, WISKOTT-ALDRICH 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, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, CORNELIA DE LANGE SYNDROME 2, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOROID PLEXUS PAPILLOMA

NCF1, PEX14, DNM2, GRIP1, CTNNB1, TP53, LMNA, SUFU, SERPINA1, ACTB, ARL2BP, TGFB1, CHAMP1, THRA, TBP, CCND1, WAS, MT-CO2, MRPL44, BBS4, RFXANK, FLNA, SMC1A, CEP57, APOB, AXIN1, ESR1, ITGA6, LRPPRC, NFKBIA, STAT1, CLASP1, PKD1, EZH2, HRAS, FTH1, VPS35, STAT3, DST, GAA, ACD, SMC3

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, POLYCYTHEMIA VERA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 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, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ANGELMAN 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, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, RUBINSTEIN-TAYBI SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, AU-KLINE SYNDROME, CHOROID PLEXUS PAPILLOMA

ESR1, EGFR, PTPRC, TNF, IL7R, FASLG, HNRNPK, MECP2, HFE, NOD2, HLA-B, CREBBP, AR, JAK2, FOXP3, SQSTM1, HSPD1, TP53, HRAS, FADD

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, LEUKODYSTROPHY, HYPOMYELINATING, 4, POLYCYTHEMIA VERA, SOMATIC, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HAJDU-CHENEY 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, PERIODIC FEVER, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 7, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {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, KAPPA LIGHT CHAIN DEFICIENCY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DUANE-RADIAL RAY SYNDROME, ALAGILLE SYNDROME 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IVIC SYNDROME, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

AR, SQSTM1, TGFB1, NOTCH2, TNF, IGKC, NOD2, FOXP3, HRAS, HLA-B, FADD, JAK2, SALL4, HSPD1, HFE, TNFRSF1A, FASLG, SH2D1A, CREBBP, CR2, PTPRC, STAT3, JAM3, IL21, PIK3R1

ADAMS-OLIVER SYNDROME 5, DIGEORGE SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WEAVER SYNDROME, VELOCARDIOFACIAL SYNDROME, 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, MISMATCH REPAIR CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOPHOSPHATASIA, INFANTILE, SMED STRUDWICK TYPE, MUIR-TORRE SYNDROME, SPLENIC HYPOPLASIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, KNIEST DYSPLASIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA 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, RUBINSTEIN-TAYBI SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME

ALPL, CTNNB1, NKX2-5, WNT5A, NOS3, GATA6, TBX3, RYR1, BMP2, PSEN1, GJA1, MSH2, NIPBL, TBX1, CCND1, EGFR, EZH2, EP300, NOTCH1, FASLG, SMAD3, SMAD4, ESR1, COL2A1, INS, PIK3R1

ADAMS-OLIVER SYNDROME 5, PANCREATIC AGENESIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 4, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PERIODIC FEVER, FAMILIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, ASPARAGINE SYNTHETASE DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CORNELIA DE LANGE SYNDROME 4, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, PARKINSON DISEASE 1, GLANZMANN THROMBASTHENIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, TRICHOHEPATOENTERIC SYNDROME 2, HYPERPARATHYROIDISM, NEONATAL, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, 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, KAPPA LIGHT CHAIN DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, CITRULLINEMIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PCWH SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, JOHANSON-BLIZZARD SYNDROME, ARGININEMIA, WAARDENBURG SYNDROME, TYPE 4C, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, PROTEUS SYNDROME, SOMATIC

ACTA1, AR, ITGB3, PPARG, SOX2, PRKCD, HCCS, SMAD4, RAD21, COL5A2, NOTCH1, UBR1, CYBA, CASR, AGT, SKIV2L, VHL, MTHFR, INSR, COL3A1, AKT1, SMARCA4, SOX10, ASCL1, CCND1, CPS1, IL6, ASS1, PEX13, PDGFRA, PCNA, COL1A1, EP300, F2, TP53, HSPD1, SNCA, EGFR, AARS, GFI1B, DNMT3B, ASNS, PTEN, SMAD3, TNFRSF1A, TNF, STAT3, PDX1, DNMT3A, INS, ARG1, IGKC, COL7A1

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?PRUNE BELLY SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, MALONYL-COA DECARBOXYLASE DEFICIENCY, VLCAD DEFICIENCY, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, 3MC SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, CPT DEFICIENCY, HEPATIC, TYPE IA, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PARKINSON DISEASE 1, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, CLOVE SYNDROME, SOMATIC, WOLCOTT-RALLISON SYNDROME, SPINOCEREBELLAR ATAXIA 1, HYPOBETALIPOPROTEINEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP O, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, {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, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, TANGIER DISEASE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPERLIPOPROTEINEMIA, TYPE IB, ALPHA-METHYLACETOACETIC ACIDURIA, RUBINSTEIN-TAYBI SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, 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}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, COFFIN-SIRIS SYNDROME 4, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

PCNA, APOB, PEX14, PARK7, MASP1, PPARG, SMARCA4, APOA1, HNRNPK, SMAD4, ABCD3, ATXN2, NOS3, PSMB8, TGFB1, PEX19, APOC2, CREBBP, TBP, IL6, EIF2AK3, AGT, SMAD9, GCK, ACAT1, PRKAG2, MT-CO2, LEP, NOTCH1, AKT2, AKT1, BMP2, GNMT, CPS1, FGA, ESR1, STK11, CCND1, ATXN1, PRKCD, CPT1A, FASLG, PDP1, SALL1, INS, FBP1, HNF4A, MLYCD, EP300, PIK3CA, TP53, ABCD1, EGFR, SNCA, POR, DLD, PTEN, ACADM, RAD51C, ACADVL, HSPG2, TNF, CHRM3, SIK1, MRPL3, STAT3, PAX8

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, SUPRANUCLEAR PALSY, PROGRESSIVE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, DIABETES INSIPIDUS, NEPHROGENIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, BROWN-VIALETTO-VAN LAERE SYNDROME 2, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, 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, ?HEMOCHROMATOSIS, TYPE 5, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, MELNICK-NEEDLES SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), SICKLE CELL ANEMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HYPOPHOSPHATASIA, INFANTILE, SPLENIC HYPOPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, MEIER-GORLIN SYNDROME 5, NIEMANN-PICK DISEASE TYPE C1, OCULODENTODIGITAL DYSPLASIA, HYPOBETALIPOPROTEINEMIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LACTASE PERSISTENCE/NONPERSISTENCE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?IMMUNODEFICIENCY 22, HEMOCHROMATOSIS, TYPE 2B, CRANIOFRONTONASAL DYSPLASIA, PYRUVATE KINASE DEFICIENCY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, ANGELMAN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, 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, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, CITRULLINEMIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, ARGININEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, COFFIN-SIRIS SYNDROME 4, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, POLYCYTHEMIA VERA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, VITAMIN D-DEPENDENT RICKETS, TYPE I, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, PSORIASIS 14, PUSTULAR, LEPRECHAUNISM, NIEMANN-PICK DISEASE, TYPE C2, OTOPALATODIGITAL SYNDROME, TYPE I, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HMG-COA SYNTHASE-2 DEFICIENCY, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ENCEPHALOPATHY, NEONATAL SEVERE, EHLERS-DANLOS SYNDROME, TYPE IV, MOYAMOYA 6 WITH ACHALASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, RENPENNING SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, GRACILE BONE DYSPLASIA, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 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, SMED STRUDWICK TYPE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, GLANZMANN THROMBASTHENIA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, 3MC SYNDROME 1, 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, DYSTONIA 16, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, PALLISTER-HALL SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, BANNAYAN-RILEY-RUVALCABA SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

PRF1, PEX14, NEU1, CYBA, HBB, APOB, MMP1, ACTB, FAS, SQSTM1, CIITA, COL3A1, SMARCA4, KCNJ11, AGT, IGKC, PPARG, FAM111A, PRKRA, UBQLN2, CDC6, WNT5A, BTK, FGA, PLG, IGHM, IL21R, PEX13, SETX, DNM2, NFKBIA, PIK3CA, NPC1, EFEMP2, CDC73, POR, GFI1B, TBK1, COL2A1, CTNNB1, AQP2, HMGCS2, ACTA1, IFIH1, KRAS, APOA1, PLAU, NKX2-5, CREBBP, AR, IGF2, NOS3, DNMT3A, GCH1, MRPL44, MAPT, TNF, IL21, EDNRA, NOD2, LEP, PIK3CD, MSH6, ABCA1, JAK2, ESR1, IRAK3, PNPT1, CARD9, MET, ABCC9, ASS1, STAT1, AVPR2, NCF2, EP300, F2, HSPD1, TNFRSF1A, OCLN, NLRC4, ACTA2, GSC, ITK, PCNA, RPS6KA3, STAT3, PTPRC, INS, ABCC8, ARG1, NFKB2, GATA1, NCF1, PFKM, ALPL, AGL, MUC5B, GJA1, IL2RA, SMAD4, DVL3, MECP2, CYP27B1, LYST, HLA-DRB1, CASR, AP1S1, PITX2, PQBP1, IL10RB, SLC52A2, BMP2, FOXP3, HRAS, IL36RN, CASP8, AKT1, BIN1, VDR, CYBB, MRPL3, CFTR, ATXN1, PRKCD, TP53, SEC63, EGFR, FBN1, EPOR, IKBKB, HNRNPK, RPSA, GLI3, ITGA2B, SNCA, ITCH, HSPA9, EFNB1, PTEN, TJP2, IL1RN, HAMP, NPC2, MCM6, GUCY1A3, GDF2, POLR3B, LCK, SSR4, FLNA, ZAP70, POLR3A, MASP1, KRT8, NOTCH1, PRKCSH, BCL10, MRPS22, RFXANK, TNFAIP3, TBP, DVL1, SPG7, TGFB1, WAS, MT-CO2, SAMHD1, INSR, HLA-B, PKLR, IL10RA, FADD, CPS1, CCND1, ALDOA, PLCG2, KDR, IL6, RPL11, FTH1, AICDA, L1CAM, BDNF, ADAM17, EDNRB, FASLG, NHP2, SMAD3, HSPG2, CR2, ITGB3, NDUFS2, C10orf2, HFE, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MYOTUBULAR MYOPATHY, X-LINKED, FAMILIAL MEDITERRANEAN FEVER, AR, ?PRUNE BELLY SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE, IMMUNODEFICIENCY 15, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CORNELIA DE LANGE SYNDROME 3, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, BECKWITH-WIEDEMANN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LOEYS-DIETZ SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE II, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PERIODIC FEVER, FAMILIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, OTOPALATODIGITAL SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?DYSTONIA, JUVENILE-ONSET, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PYRUVATE KINASE DEFICIENCY, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PARKINSON DISEASE 1, HAJDU-CHENEY SYNDROME, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME 5, WIEDEMANN-STEINER SYNDROME, OVARIAN HYPERSTIMULATION SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, GLANZMANN THROMBASTHENIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, FAMILIAL MEDITERRANEAN FEVER, AD, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, WISKOTT-ALDRICH 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, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, 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, TRIGONOCEPHALY 1, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, LOEYS-DIETZ SYNDROME 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, GLYCOGEN STORAGE DISEASE VII, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, SCHAAF-YANG SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, PROTEUS SYNDROME, SOMATIC

ACTA1, FASLG, SHOC2, PFKM, ITGB3, CTNNB1, APOA1, SNCA, BRAF, EP300, PTEN, NOTCH1, ACTB, SQSTM1, TGFB1, CHRM3, PKLR, MAPT, FLNA, CD40LG, F2, AP3B1, AGT, GJA1, STAT1, FGFR1, NOD2, PCNA, BMP2, RFXANK, PLG, AKT1, ABCA1, BIN1, MEFV, CCND1, ESR1, FSHR, MAGEL2, KDR, IL6, PARK2, WAS, EGFR, LRP2, BDNF, DNM2, DES, GDNF, NTF3, APC, SMC1A, HRAS, CDKN1C, BMPER, CASR, ACTA2, TGFBR2, SMAD3, IKBKB, NOTCH2, TNFRSF1A, TNF, STAT3, PSTPIP1, C10orf2, ABCC8, SMC3, MUSK

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, BARDET-BIEDL SYNDROME 10, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 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, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, HYPERCALCEMIA, INFANTILE, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 2, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, PITT-HOPKINS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, RUBINSTEIN-TAYBI SYNDROME, PCWH SYNDROME, SADDAN, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, MISMATCH REPAIR CANCER SYNDROME, FEINGOLD SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SPHEROCYTOSIS, TYPE 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PEUTZ-JEGHERS SYNDROME, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, FANCONI ANEMIA, COMPLEMENTATION GROUP O, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, KAPPA LIGHT CHAIN DEFICIENCY, AXENFELD-RIEGER SYNDROME, TYPE 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, OMENN SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WEAVER SYNDROME, FUMARASE DEFICIENCY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CORNELIA DE LANGE SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, FIBROCHONDROGENESIS 2, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SMED STRUDWICK TYPE, MUIR-TORRE SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPOBETALIPOPROTEINEMIA, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, RUBINSTEIN-TAYBI SYNDROME 2, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC

CYBA, APOB, COL1A1, RAD21, ACTB, GNAS, AGT, IGKC, COL5A1, BBS4, WNT5A, CTC1, STK11, BBS1, TERT, FH, MMP1, NBN, TGFBR2, CREBBP, CPS1, COL2A1, ACTA1, KRAS, APOA1, EGFR, AR, NOS3, MYCN, DCLRE1C, CCND1, TNF, RYR1, LEP, KCNJ1, CEL, PFKM, EP300, CYP24A1, STAT3, ACD, CUBN, COL11A2, GATA1, FASLG, NCF1, TTR, ALDOA, DKC1, CTNNB1, HLA-DRB1, CASR, PITX2, VHL, BMP2, CHRNA1, BBS10, AKT1, SMARCA4, MRPL3, CFTR, ATXN1, TP53, LRP2, EZH2, POLD1, SMC1A, SNCA, RAD51C, PTEN, FGFR3, NOD2, SOX10, GAA, POLA1, SSR4, SLC2A1, CHRNE, CYBB, PTRF, TGFB1, TBP, ERCC4, SPTB, PARK2, TCF4, HLA-B, POLE, MSH2, TINF2, IL6, THRA, RTEL1, INS, PCNA, APC, VPS35, LIPA, NHP2, ZAP70, ESR1, KDR, HFE, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SUPRANUCLEAR PALSY, PROGRESSIVE, IMMUNODEFICIENCY 15, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, FRASER SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, ALSTROM SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, [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, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, OPITZ GBBB SYNDROME, TYPE II, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, FAMILIAL MEDITERRANEAN FEVER, AR, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, RENAL CYSTS AND DIABETES SYNDROME, TRIGONOCEPHALY 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BECKWITH-WIEDEMANN SYNDROME, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MECKEL SYNDROME 10, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, JOUBERT SYNDROME 6, ?IMMUNODEFICIENCY 22, SPHEROCYTOSIS, TYPE 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PYRUVATE KINASE DEFICIENCY, MULIBREY NANISM, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, OVARIAN HYPERSTIMULATION SYNDROME, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, 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, STRIATONIGRAL DEGENERATION, INFANTILE, AXENFELD-RIEGER SYNDROME, TYPE 1, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, COMBINED SAP DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, SHWACHMAN-DIAMOND SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, COACH SYNDROME, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, LOWE SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, WIEDEMANN-STEINER SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MECKEL SYNDROME 3, WISKOTT-ALDRICH 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, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?CHARGE SYNDROME, CHARGE SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ALAGILLE SYNDROME 2, GLYCOGEN STORAGE DISEASE VII, OPITZ GBBB SYNDROME, TYPE I, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CORNELIA DE LANGE SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SCHAAF-YANG SYNDROME, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FAMILIAL MEDITERRANEAN FEVER, AD, HAJDU-CHENEY SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SPLENIC HYPOPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, PYRUVATE CARBOXYLASE DEFICIENCY, GLANZMANN THROMBASTHENIA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, NOONAN SYNDROME 7, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, NEPHRONOPHTHISIS 11, MECKEL SYNDROME 4, RUBINSTEIN-TAYBI SYNDROME 2, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, DENT DISEASE 2, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, F2, SQSTM1, FGFR1, APOB, COL1A1, RAD21, ACTB, SEMA3E, FTL, KRIT1, AGT, ASCC1, SNCA, PKD1, FGA, IL2RA, DST, PSTPIP1, CLASP1, DNM2, DES, PKHD1, NOTCH1, PRF1, BMPER, GFI1B, MEFV, TGFBR2, SMAD4, CREBBP, OCRL, SPECC1L, PTEN, ACTA1, SHOC2, GRIP1, JAM3, APOA1, B9D2, CASP8, EGFR, NKX2-5, ALMS1, GNAS, PKLR, MAPT, TNF, TPM3, HLA-DRB1, EDNRA, CHRM3, MID1, LEP, ABCA1, ESR1, FSHR, CCND1, MET, TRIM37, JAK2, STAT1, VPS33B, PFKM, EP300, GDNF, TNFRSF1A, NLRC4, ACTA2, PCNA, RPS6KA3, STAT3, BRAF, ABCC8, SMC3, NCF1, ITGB3, CTNNB1, KCNN4, HNF1B, INPP5E, SBDS, SHANK3, CEP290, CD40LG, TGFB3, CASR, PITX2, KIF1B, NUP62, RAPSN, BMP2, AKT1, BIN1, INPPL1, ASCL1, CFTR, ATXN1, WAS, TP53, FASLG, MED17, LRP2, IKBKB, EZH2, SMC1A, MAGEL2, CDKN1C, MUSK, ACADM, NOD2, AXIN1, ITCH, LCK, SSR4, FLNA, PSAP, PRKCD, HNRNPK, NOS3, TGFB1, RFXANK, DVL1, AP3B1, DMPK, SPTB, PARK2, CARD11, NOTCH2, PLG, KDR, IL6, PDGFRA, L1CAM, BDNF, CTCF, NTF3, APC, PC, HRAS, TMEM67, SMAD3, HSPG2, NEB, C10orf2, KIF1BP, PIK3R1

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, SUPRANUCLEAR PALSY, PROGRESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, FRASER SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, COCKAYNE SYNDROME, TYPE B, ?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, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, GALLBLADDER DISEASE 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CORNELIA DE LANGE SYNDROME 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HYPOPHOSPHATASIA, INFANTILE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, GLYCOGEN STORAGE DISEASE XII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CHOREOACANTHOCYTOSIS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, LEUKODYSTROPHY, HYPOMYELINATING, 4, SITOSTEROLEMIA, {AUTISM, SUSCEPTIBILITY TO, 18}, BECKWITH-WIEDEMANN SYNDROME, NIEMANN-PICK DISEASE TYPE C1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, LEPRECHAUNISM, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, MISMATCH REPAIR CANCER SYNDROME, PYRUVATE KINASE DEFICIENCY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, OVARIAN HYPERSTIMULATION SYNDROME, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, 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, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, FANCONI ANEMIA, COMPLEMENTATION GROUP O, ROTHMUND-THOMSON SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, CITRULLINEMIA, ADULT-ONSET TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CHYLOMICRON RETENTION DISEASE, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, OTOPALATODIGITAL SYNDROME, TYPE I, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HERMANSKY-PUDLAK SYNDROME 2, CARPENTER SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, COFFIN-LOWRY SYNDROME, COFFIN-SIRIS SYNDROME 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, MEIER-GORLIN SYNDROME 1, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LOWE SYNDROME, BURN-MCKEOWN SYNDROME, ?PRUNE BELLY SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP D1, CORNELIA DE LANGE SYNDROME 4, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, ?DYSTONIA, JUVENILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, BALLER-GEROLD SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CLOVE SYNDROME, SOMATIC, FAMILIAL ADENOMATOUS POLYPOSIS 3, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, 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 II, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PEROXISOME BIOGENESIS DISORDER 4B, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PYRUVATE CARBOXYLASE DEFICIENCY, GLANZMANN THROMBASTHENIA, CILIARY DYSKINESIA, PRIMARY, 6, DIABETES INSIPIDUS, NEPHROGENIC, KARTAGENER SYNDROME, NOONAN SYNDROME 7, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, CODAS SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, COLE DISEASE, DENT DISEASE 2, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, PROTEUS SYNDROME, SOMATIC

TSC2, BRCA2, TRIM32, MSH6, SQSTM1, DNAH11, RAD21, ORC1, ACTB, PEX14, GNAS, CIITA, CDT1, PEX6, NPC1, EFTUD2, ITGB3, MLH1, AGT, LRRK2, WNK1, DNAH5, RECQL4, EIF4A3, MYH7, CHD8, KIF7, KIF1B, PSTPIP1, ERCC6, DNM2, DES, PIK3CA, ABCD1, EXOC8, GFI1B, ERCC2, OCRL, CYC1, PRKAG2, LIPT1, MSH2, ABCC2, DYNC2H1, KIF1A, PTEN, ACTA1, POLR3B, ATRX, GRIP1, KRAS, APOA1, FSHR, ABCC6, ABCD3, NME1, PIGT, NOS3, GCH1, MAPT, CAD, SKIV2L, CHRM3, TAF6, GFM1, ABCA1, JAK2, EXOSC8, MEGF10, LONP1, CCND1, MET, NTHL1, TPM2, CHCHD10, SUCLA2, SLC25A13, MYH8, PFKM, TAF1, HSPD1, GTPBP3, ALPL, ABCD4, ATP6V1B2, TNNT2, AVPR2, CTNS, RPS6KA3, ENPP1, STAT3, BRAF, INS, SMC3, MT-CO1, VPS33B, ITGB4, ALDOA, CTNNB1, NRAS, DNAH8, SMAD4, CBS, ABCG8, SNIP1, HLA-DRB1, GMPPB, CASR, VHL, SMARCAL1, BCS1L, BMP2, SSR4, AKT1, SMARCA4, TXNL4A, NDUFS1, ASCL1, CFTR, PARK2, RAB23, TP53, SEC63, ITPA, ABCB4, FECH, SNCA, DNAH1, CDKN1C, UBQLN2, HSPA9, NONO, ACADM, RAD51C, ABCB11, NME8, DDOST, AXIN1, TUBB4A, EPOR, PEX1, AR, FLNA, VPS45, PRKCD, VPS13A, ATXN2, LAMA2, TNF, ABCG5, TBP, DVL1, ATP7A, TGFB1, STAT1, WAS, MT-CO2, INSR, CARD11, PKLR, POLE, UQCRB, IL6, ABCC9, PMS2, RTEL1, PCNA, CLASP1, PEX19, ABCC8, HRAS, EGFR, AP3B1, NHP2, SMAD3, SAR1B, ESR1, TINF2, PC, KRIT1, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, EVEN-PLUS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPHEROCYTOSIS, TYPE 4, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, SPHEROCYTOSIS, TYPE 2, IMMUNODEFICIENCY 14, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA CBLB TYPE, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, CRYOHYDROCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, RENAL TUBULAR ACIDOSIS, DISTAL, AR, SPHEROCYTOSIS, TYPE 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CHOROID PLEXUS PAPILLOMA

UROD, UROS, HMBS, MMAB, ANK1, MT-CO2, PPOX, ALAD, COX10, PIK3CD, MUT, TP53, CPOX, SUCLA2, COX15, FECH, SLC4A1, HSPD1, MMACHC, HRAS, HSPA9, MMAA, SPTB, ALAS2

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ROBINOW SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, NOONAN SYNDROME 7, HETEROTAXY, VISCERAL, 5, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, 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, MULTIPLE ENDOCRINE NEOPLASIA IIA, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, OPITZ GBBB SYNDROME, TYPE I, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, WEAVER SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SPINOCEREBELLAR ATAXIA 1, MULTIPLE ENDOCRINE NEOPLASIA IIB, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 4A, PARKINSON DISEASE 1, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, RUBINSTEIN-TAYBI SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, WIEDEMANN-STEINER SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, CARDIOFACIOCUTANEOUS SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, VITAMIN D-DEPENDENT RICKETS, TYPE I, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, LOEYS-DIETZ SYNDROME 2, {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, MECKEL SYNDROME 4, 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, PALLISTER-HALL SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, VAN MALDERGEM SYNDROME 2, KABUKI SYNDROME 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CORNELIA DE LANGE SYNDROME 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, GELEOPHYSIC DYSPLASIA 2, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, PROTEUS SYNDROME, SOMATIC

ACTA1, RET, TAF1, SMARCA4, NODAL, SMAD4, SNCA, FAT4, WNT5A, TGFB1, GDNF, NOTCH1, CYP27B1, MYCN, TBP, IL6, TBX3, TNF, SMAD9, GDF2, STAT1, PPARG, ACVRL1, MID1, MEN1, ATXN1, BMP2, NEUROG3, HRAS, AKT1, PITX2, CTNNB1, KDM6A, VDR, ESR1, MYH7, ASCL1, KDR, CCND1, MET, TP53, EGFR, FBN1, CEP290, DNM2, EP300, GLI3, APC, EDNRB, ITCH, EZH2, GFI1B, GSC, ZEB2, SMAD3, SALL1, CREBBP, BTK, HSPG2, BRAF, STAT3, KMT2A, PAX8, SOX2, INS, SF3B4, TGFBR2, AHI1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HETEROTAXY, VISCERAL, 5, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, WEAVER SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, {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, PALLISTER-HALL SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, LOEYS-DIETZ SYNDROME 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CORNELIA DE LANGE SYNDROME 1, WIEDEMANN-STEINER SYNDROME, ARGININEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA

CTNNB1, NODAL, SMAD4, STAT1, IL6, TBX3, TNF, ARG1, PPARG, ACVRL1, SOX2, KMT2A, CCND1, TP53, EZH2, GLI3, EGFR, TGFBR2, SMAD3, STAT3, KDR, SF3B4

BASAL CELL NEVUS SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, WAARDENBURG SYNDROME, TYPE 4B, ?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, MELNICK-NEEDLES SYNDROME, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MITCHELL-RILEY SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HERMANSKY-PUDLAK SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, KABUKI SYNDROME 2, 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, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL CYSTS AND DIABETES SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CORPUS CALLOSUM, PARTIAL AGENESIS OF, VLCAD DEFICIENCY, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MECKEL SYNDROME 10, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, JOUBERT SYNDROME 6, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PEUTZ-JEGHERS SYNDROME, LOEYS-DIETZ SYNDROME 3, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, ?MECKEL SYNDROME 9, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, 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, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, OHDO SYNDROME, X-LINKED, PRADER-WILLI SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, COMBINED SAP DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, IVIC SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PANCREATIC AGENESIS 1, COACH SYNDROME, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, BANNAYAN-RILEY-RUVALCABA SYNDROME, CORNELIA DE LANGE SYNDROME 4, DIGEORGE SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MECKEL SYNDROME 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ALAGILLE SYNDROME, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PCWH SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CORNELIA DE LANGE SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, OPITZ-KAVEGGIA SYNDROME, VELOCARDIOFACIAL SYNDROME, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, 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, {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, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PYRUVATE CARBOXYLASE DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MECKEL SYNDROME 4, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, NETHERTON SYNDROME, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

WNT5A, COL1A1, SALL1, RAD21, ACTB, GNAS, MLH1, AGT, MUC5B, LEP, DSG1, BTK, SOX10, STK11, SALL4, ITCH, FBP1, SMARCA4, NEUROG3, EFEMP2, JAG1, ERCC2, RFX6, TBK1, MSH2, COL2A1, SF3B4, TGFBR2, ACTA1, KRAS, EGFR, CREBBP, AR, SQSTM1, NOS3, THRA, LMNB1, TNF, FGFR1, TAF6, AKT2, NFKBIA, B9D2, KRT18, CCND1, JAK2, EDN3, EP300, TAF1, HSPD1, ROR2, KRIT1, BDNF, ACADVL, RPS6KA3, GPHN, TBX1, INS, CUBN, PAX8, GATA1, PTCH1, ADAM17, ALPL, PPARG, CTNNB1, HNF1B, SMAD4, DVL3, SMAD9, GDNF, CEP290, STAT1, FLNA, CASR, PITX2, VHL, HNF4A, BMP2, HRAS, NDN, AKT1, SOX2, AXIN1, VDR, ASCL1, DVL1, TP53, NONO, FASLG, FBN1, LRP2, EZH2, GLI3, POLD1, CDKN1C, PTEN, FGFR3, SPINK5, FZD6, ACVRL1, KDM6A, ITGA6, KIT, AHI1, SLC2A1, MYH11, PSAP, HNRNPK, ATXN2, B9D1, TGFB1, PRKCSH, GATA6, TBP, STAT3, HLA-B, NOTCH1, PLG, MED12, CPS1, FGFR2, IL6, CPT1A, CPOX, PTRF, L1CAM, PCNA, RET, CTCF, NTF3, FOXF1, HPS1, EDNRB, TMEM67, SMAD3, HSPG2, EXOC8, ESR1, ACVR1B, KDR, PC, PDX1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CORNELIA DE LANGE SYNDROME 4, BLEEDING DISORDER, PLATELET-TYPE, 17, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ADAMS-OLIVER SYNDROME 5, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, BANNAYAN-RILEY-RUVALCABA SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, THYROID DYSHORMONOGENESIS 1, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, RUBINSTEIN-TAYBI SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ASPARAGINE SYNTHETASE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

GATA6, TBP, F2, GFI1B, AGT, DVL1, PTEN, PLAU, SLC5A5, TNF, LEP, RAD21, PAX8, EP300, ASNS, AKT1, TGFB1, POR, NOTCH1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COPROPORPHYRIA, HARDEROPORPHYRIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, TRYPSINOGEN DEFICIENCY, EVEN-PLUS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 3, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, PERIODIC FEVER, FAMILIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, SPHEROCYTOSIS, TYPE 4, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, TRANSCOBALAMIN II DEFICIENCY, DONNAI-BARROW SYNDROME, IMMUNODEFICIENCY 14, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA CBLB TYPE, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, CRYOHYDROCYTOSIS, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, RENAL TUBULAR ACIDOSIS, DISTAL, AR, SPHEROCYTOSIS, TYPE 1, INTRINSIC FACTOR DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HYPERBILIVERDINEMIA, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SPHEROCYTOSIS, TYPE 2, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

AMN, UROD, GIF, HMBS, MMAB, MTRR, CD79A, TCN2, NOS3, CPOX, MTR, TNFRSF1A, PPOX, C10orf2, ALAD, COX10, MRPL3, PIK3CD, IL6, MUT, ANK1, SUCLA2, HSPA9, COX15, FECH, BLVRA, SLC4A1, MMACHC, HSPD1, UROS, HRAS, LRP2, ABCD4, POR, AFG3L2, PRSS1, MMAA, SPTB, LMBRD1, INS, CUBN, ALAS2

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, 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, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, NOONAN SYNDROME 7, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, MYOTUBULAR MYOPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA IIA, CARDIOFACIOCUTANEOUS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, LOEYS-DIETZ SYNDROME 2, {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, 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, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MULTIPLE ENDOCRINE NEOPLASIA 1, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, VITAMIN D-DEPENDENT RICKETS, TYPE I, PROTEUS SYNDROME, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA

RET, CTNNB1, SMAD4, TGFB1, NOTCH1, CYP27B1, IL6, SMAD9, GDF2, PPARG, ESR1, MEN1, BMP2, AKT1, PITX2, SOX2, ZEB2, VDR, MYH7, CCND1, TP53, DNM2, APC, HRAS, ITCH, GFI1B, TGFBR2, SMAD3, SALL1, HSPG2, ACVRL1, BRAF, GSC, AHI1

PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), SUPRANUCLEAR PALSY, PROGRESSIVE, STAR SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MULTIPLE SULFATASE DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SPHEROCYTOSIS, TYPE 4, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, AXENFELD-RIEGER SYNDROME, TYPE 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, MELNICK-NEEDLES SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HERMANSKY-PUDLAK SYNDROME 1, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 2, STROMME SYNDROME, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, MEIER-GORLIN SYNDROME 5, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), RUBINSTEIN-TAYBI SYNDROME, CHOREOACANTHOCYTOSIS, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MECKEL SYNDROME 10, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, DIAMOND-BLACKFAN ANEMIA 8, ?IMMUNODEFICIENCY 22, SPHEROCYTOSIS, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PEUTZ-JEGHERS SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARKINSONISM-DYSTONIA, INFANTILE, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DYSKERATOSIS CONGENITA, X-LINKED, PEROXISOME BIOGENESIS DISORDER 14B, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, COFFIN-SIRIS SYNDROME 3, 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}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CHYLOMICRON RETENTION DISEASE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, CITRULLINEMIA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, ACHONDROGENESIS, TYPE IA, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, PEROXISOME BIOGENESIS DISORDER 4B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, WAARDENBURG SYNDROME, TYPE 4C, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WEAVER SYNDROME, EVEN-PLUS SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FUMARASE DEFICIENCY, LOWE SYNDROME, ?PRUNE BELLY SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 3B, CORNELIA DE LANGE SYNDROME 4, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, COMMON VARIABLE IMMUNODEFICIENCY 1, COFFIN-SIRIS SYNDROME 4, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CRYOHYDROCYTOSIS, WIEDEMANN-STEINER SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, WISKOTT-ALDRICH SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CORNELIA DE LANGE SYNDROME 5, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CPT DEFICIENCY, HEPATIC, TYPE IA, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, SPLENIC HYPOPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, TARP SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, DIABETES INSIPIDUS, NEPHROGENIC, MUCOLIPIDOSIS IV, 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, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, HYPOBETALIPOPROTEINEMIA, DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CHEDIAK-HIGASHI SYNDROME, 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}, DENT DISEASE 2, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, HERMANSKY-PUDLAK SYNDROME 7, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

UROD, PEX14, FAM58A, RPS26, TSEN2, WNT5A, TSC2, STRADA, PKD1, RAD21, VPS11, PABPN1, CENPF, PSEN1, ANK1, ALDOA, AGT, PPARG, SCARB2, SOX2, SLC6A3, WNK1, CDC6, APOB, SOX10, KMT2A, STK11, BBS1, PEX13, FH, PNPT1, DNM2, COG6, DNAJC19, EFEMP2, CDC73, BBS2, TGFBR2, CREBBP, VIPAS39, PRKAG2, OCRL, IKBKAP, DYNC2H1, SF3B4, PTEN, AMN, SHOC2, RPS28, PEX26, RBM8A, FSHR, MAP2K2, EGFR, NKX2-5, ADCY6, NME1, PACS1, LYST, NOS3, MAPT, TNF, RYR1, EDNRA, MOGS, PEX6, JAK2, B9D2, KRT18, MTM1, LMNA, MET, ASS1, RBM10, VPS33B, EXOC8, AAAS, EP300, SLC4A1, HSPD1, EZH2, CASR, SUMF1, PCNA, BDNF, STAT3, SEC23B, INS, SLC35A2, PITX2, TRIP11, GATA1, ALPL, DKC1, GJA1, SSR4, SMAD4, DVL3, GDNF, SNIP1, STAT1, TGFB3, PEX11B, LEP, NFKB2, NUP62, VPS35, AKT1, SMARCA4, AXIN1, VDR, DTNBP1, ATXN1, WAS, PEX3, UBE3A, LRP2, COG4, MCOLN1, VPS13A, RPSA, AVPR2, SNCA, PSTPIP1, UBQLN2, HSPA9, RPS7, QDPR, ABCD3, CHRM3, DDOST, TUBB4A, SCYL1, NHP2, LCK, PEX1, AR, FLNA, DNAJC13, VPS45, SMARCB1, HDAC8, HNRNPK, PRKCSH, SEC23A, PEX12, CYP24A1, GATA6, TBP, DVL1, AP3B1, TGFB1, SPTB, MT-CO2, AXIN2, CARD11, NOTCH1, SERPINA1, TP53, PLCG2, PTPRC, IL6, SEC63, CPT1A, RPL11, JAK3, NKX3-2, L1CAM, STX11, ERCC6, PEX19, PAM16, HRAS, FTH1, PEX16, FASLG, POLR3B, SMAD3, PEX2, SAR1B, ESR1, C10orf2, PIK3R1

PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, COPROPORPHYRIA, HARDEROPORPHYRIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, 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, PPOX, UROS, HSPD1, ALAD

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OTOPALATODIGITAL SYNDROME, TYPE I, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARKINSON DISEASE 1, MELNICK-NEEDLES SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, DIABETES INSIPIDUS, NEPHROGENIC, GLANZMANN THROMBASTHENIA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL 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, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PROTEUS SYNDROME, SOMATIC, CHOROID PLEXUS PAPILLOMA

F2, IL2RA, PLAU, TGFB1, NOS3, ITGB3, AGT, HRAS, FLNA, AKT1, FGA, PLG, IL6, PRKCD, TP53, PDGFRA, AVPR2, SNCA, TNF, ESR1, INS, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BASAL CELL NEVUS SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE, IMMUNODEFICIENCY 15, TARP SYNDROME, HETEROTAXY, VISCERAL, 5, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, DIGEORGE SYNDROME, FRASER SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, GLASS SYNDROME, MISMATCH REPAIR CANCER SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ADAMS-OLIVER SYNDROME 6, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?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, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, POLYCYTHEMIA VERA, SOMATIC, WAARDENBURG SYNDROME, TYPE 4A, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, MELNICK-NEEDLES SYNDROME, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, INTERSTITIAL LUNG AND LIVER DISEASE, IMMUNODEFICIENCY 14, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, GLANZMANN THROMBASTHENIA, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, 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, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), EHLERS-DANLOS SYNDROME, TYPE IV, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PANCREATIC AGENESIS 1, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 6, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, KABUKI SYNDROME 2, GLYCOGEN STORAGE DISEASE XII, 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, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, RETT SYNDROME, CONGENITAL VARIANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, WIEDEMANN-STEINER SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, CORPUS CALLOSUM, PARTIAL AGENESIS OF, {AUTISM, SUSCEPTIBILITY TO, 18}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, MICROPHTHALMIA, SYNDROMIC 2, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, BECKWITH-WIEDEMANN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OCULODENTODIGITAL DYSPLASIA, HYPOBETALIPOPROTEINEMIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, LOEYS-DIETZ SYNDROME 3, FEINGOLD SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CYANOSIS, TRANSIENT NEONATAL, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, OVARIAN HYPERSTIMULATION SYNDROME, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, BOHRING-OPITZ SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, AGNATHIA-OTOCEPHALY COMPLEX, ANGELMAN SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, COFFIN-SIRIS SYNDROME 3, PITT-HOPKINS SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, SPLENIC HYPOPLASIA, 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, MYOPATHY, MYOFIBRILLAR, 1, CORNELIA DE LANGE SYNDROME 2, PRADER-WILLI SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MULTIPLE ENDOCRINE NEOPLASIA 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, SOTOS SYNDROME 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ARGININEMIA, SADDAN, WAARDENBURG SYNDROME, TYPE 4C, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ALAGILLE SYNDROME 2, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE XIII, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ?OROFACIAL CLEFT 15, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WEAVER SYNDROME, MEIER-GORLIN SYNDROME 1, CORNELIA DE LANGE SYNDROME 3, BURN-MCKEOWN SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, VITAMIN D-DEPENDENT RICKETS, TYPE I, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, CORNELIA DE LANGE SYNDROME 4, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), RUBINSTEIN-TAYBI SYNDROME 2, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, {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, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, BRITTLE CORNEA SYNDROME 2, BIRT-HOGG-DUBE SYNDROME, VISCERAL MYOPATHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, COFFIN-SIRIS SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, PERLMAN SYNDROME, HOLOPROSENCEPHALY-7, ?CHARGE SYNDROME, CHARGE SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, ABLEPHARON-MACROSTOMIA SYNDROME, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, CORNELIA DE LANGE SYNDROME 5, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, VELOCARDIOFACIAL SYNDROME, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, COCKAYNE SYNDROME, TYPE B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, STROMME SYNDROME, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MUIR-TORRE SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, IVIC SYNDROME, GALLBLADDER DISEASE 1, LEUKODYSTROPHY, HYPOMYELINATING, 12, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, DYSTONIA 16, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DYSAUTONOMIA, FAMILIAL, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, LYMPHOPROLIFERATIVE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 22, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, OHDO SYNDROME, X-LINKED, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, {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}, KABUKI SYNDROME 1, CHEDIAK-HIGASHI SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, GELEOPHYSIC DYSPLASIA 2, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, OLIGODONTIA-COLORECTAL CANCER SYNDROME, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, NFKB2, MARS2, F2, SQSTM1, EPHX1, APOB, COL1A1, MPZ, SALL1, RAD21, PRRX1, ACTB, FAS, PEX14, GNAS, CENPF, G6PC, COL3A1, SMARCA4, KLF1, ALDOA, TBX3, AGT, DBT, PPARG, TCF4, FOXG1, DKC1, NEUROG3, NR4A2, CDC6, BTK, SLC35A2, ZEB2, HNRNPK, PLAU, MYH7, STK11, PIK3CD, CHD8, ENG, FMR1, PTRH2, ITCH, BCOR, IKBKAP, PTRF, FBP1, HNF1B, DNM2, DES, BMPER, PIK3CA, TRIM32, WNK1, NFKBIA, EFEMP2, CDC73, WAS, GFI1B, TGFBR2, KMT2A, TBK1, MSH2, SOX2, CTNNB1, SF3B4, MUSK, RARB, PTCH1, SHOC2, ATXN2, GRIP1, KRAS, KDM6A, RBM8A, NIPBL, SCNN1G, DVL1, EGFR, NKX2-5, CHMP1A, AR, FSHR, KRT18, IGF2, ZAP70, NOS3, ZHX2, DNMT3A, THRA, SMARCB1, MAPT, TNF, CIITA, RYR1, FGFR1, NOD2, CD3E, LEP, PSEN1, AKT2, CPOX, ABCA1, JAK2, PLOD1, GJA1, DLX4, SMARCE1, COL2A1, CCND1, MET, CD27, PDX1, RBM10, HLA-DRB1, VPS33B, LRP5, HNF4A, GLIS3, NKX3-2, MEN1, EP300, GDNF, HSPD1, CHAT, ALPL, MLH1, TSHB, POLR3A, GSC, PCNA, ATP8B1, RBBP8, STAT3, DVL3, TBX1, FBN2, INS, KAT6B, ATRX, ARG1, PEX19, GCK, PAX8, GATA1, ACTA1, DIS3L2, TTR, PFKM, ITGB3, PRKRA, VHL, BMP1, TWIST2, STX11, SMAD4, USP9X, DNAJB6, PURA, SMAD9, TAF1, MECP2, CYP27B1, LYST, GYS1, CHD7, CASR, APC, PCK1, PQBP1, HES7, HBG2, RAPSN, BMP2, FOXP3, EDNRB, FLNA, VPS11, NDN, AKT1, SETD5, TXNL4A, VDR, NFIX, WNT5A, ASCL1, LRPPRC, ATXN1, HDAC8, MED12, NONO, PRKCD, LRP2, CHAMP1, MED17, IKBKB, AXIN1, FBN1, MAP2K2, EZH2, GLI3, ARX, POLD1, SMC1A, SNCA, CDKN1C, NOTCH3, EFNB1, KAT6A, PTEN, TJP2, FGFR3, FLCN, PAX4, ACVRL1, ZBTB42, TRIP4, ITGA6, GDF2, ADK, ALAS2, POLA1, LCK, PGM1, NME1, SLC2A1, SMAD3, BIN1, NODAL, ZNF423, DLL4, PEX2, ASXL1, ZMYND10, CASP10, TGFB1, HPCA, RFXANK, AMH, GATA6, NTF3, KMT2D, CFTR, TAF6, TERT, NSD1, STAT1, ESR1, ORC1, PARK2, RFX5, RECQL4, NOTCH2, PLG, FADD, PITX2, TP53, CPS1, NOTCH1, FGFR2, CREBBP, BRAF, IL6, SALL4, MARS, MYCN, PDGFRA, L1CAM, BDNF, ERCC6, TBP, CTCF, SUFU, FOXF1, SMC3, HRAS, ABCB4, FASLG, ATXN3, AXIN2, DNMT3B, SATB2, NHP2, MYH11, PNPLA2, ARID1A, HSPG2, CR2, CASP8, PIK3R1, SOX10, PRDM5, SKIV2L, SKI