ABDOMEN

PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), SUPRANUCLEAR PALSY, PROGRESSIVE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPHEROCYTOSIS, TYPE 4, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, ?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, MYOTONIC DYSTROPHY 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, POLYCYTHEMIA VERA, SOMATIC, WAARDENBURG SYNDROME, TYPE 4A, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, WOLFRAM SYNDROME 2, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, NETHERTON SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, STORMORKEN SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 3, SPHEROCYTOSIS, TYPE 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HYPOPHOSPHATASIA, INFANTILE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?REYNOLDS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), RUBINSTEIN-TAYBI SYNDROME, WIEDEMANN-STEINER SYNDROME, IMMUNODEFICIENCY 19, SADDAN, INSOMNIA, FATAL FAMILIAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, NOONAN SYNDROME 7, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, NIEMANN-PICK DISEASE TYPE C1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, ?IMMUNODEFICIENCY 22, SPHEROCYTOSIS, TYPE 2, CRANIOFRONTONASAL DYSPLASIA, PYRUVATE KINASE DEFICIENCY, CORNELIA DE LANGE SYNDROME 4, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, YUNIS-VARON SYNDROME, NIEMANN-PICK DISEASE, TYPE C2, ANGELMAN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, PSEUDOHYPOALDOSTERONISM, TYPE I, COFFIN-SIRIS SYNDROME 3, 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}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, 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, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ALPHA-METHYLACETOACETIC ACIDURIA, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, CITRULLINEMIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MULTIPLE ENDOCRINE NEOPLASIA 1, CHYLOMICRON RETENTION DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, SMITH-LEMLI-OPITZ SYNDROME, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ?PRUNE BELLY SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, SPINOCEREBELLAR ATAXIA 42, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, WHITE-SUTTON SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?DYSTONIA, JUVENILE-ONSET, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, ALAGILLE SYNDROME, CRYOHYDROCYTOSIS, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, NIEMANN-PICK DISEASE, TYPE A, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, GRAY PLATELET SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, WISKOTT-ALDRICH SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, RENAL TUBULAR ACIDOSIS, DISTAL, AR, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LATHOSTEROLOSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CHILD SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, RITSCHER-SCHINZEL SYNDROME 1, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, ALAGILLE SYNDROME 2, GLYCOGEN STORAGE DISEASE VII, CRANIOLENTICULOSUTURAL DYSPLASIA, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, MEIER-GORLIN SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, COPROPORPHYRIA, HARDEROPORPHYRIA, ABETALIPOPROTEINEMIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ASPARTYLGLUCOSAMINURIA, POLYCYSTIC LIVER DISEASE, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, HYPERCALCEMIA, INFANTILE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PEROXISOME BIOGENESIS DISORDER 8B, WOLCOTT-RALLISON SYNDROME, HAJDU-CHENEY SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, DIABETES INSIPIDUS, NEPHROGENIC, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, HYPOBETALIPOPROTEINEMIA, CONGENITAL DISORDER OF DEGLYCOSYLATION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), OCCIPITAL HORN SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME 2, TRICHOHEPATOENTERIC SYNDROME 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?DIARRHEA 7, CODAS SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, LYMPHEDEMA, HEREDITARY, III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, PEX14, SEC23A, F2, SQSTM1, APOB, KCNJ10, NGLY1, RAD21, MT-CO2, ACTB, LBR, STIM1, SEMA3E, SC5D, CIITA, PSEN1, ANK1, APOA1, FTL, ITGB3, AGT, POR, IGKC, PPARG, MOGS, LRRK2, CACNA1G, ALG3, NSDHL, CD3D, BTK, CD3E, FGA, PLAU, PIGC, PLG, ALG1, DPM2, PNPLA2, COL1A1, TRIM32, DES, CDT1, NPC1, GFI1B, JAG1, FGG, TGFBR2, CREBBP, CYC1, NDUFB9, CNTNAP1, CTNNB1, KIF1A, AQP2, FIG4, SMARCB1, PCNA, LRBA, GRIP1, KRAS, PARK2, TP53, MAP2K2, EGFR, QDPR, TBK1, PGM1, GNAS, NOS3, VPS35, AGPAT2, CPOX, LMNB1, IL6, MAPT, CAD, RYR1, CHRM3, SCNN1A, LEP, ABCA1, ASS1, GTPBP3, ESR1, MEGF10, LONP1, FKRP, CCND1, MET, JAK2, CD40LG, ELOVL4, AVPR2, FMR1, MEN1, EP300, SNX10, SLC4A1, HSPD1, TNFRSF1A, ALPL, ARL6, EXT2, REEP1, MPC1, ATP8B1, CYP24A1, STAT3, KMT2A, HMGCS2, PTPRC, INS, ABCC8, SMC3, PLIN1, PIGA, NCF1, TTR, PFKM, KCNJ11, AGL, ACAT1, GJA1, SMAD4, POGZ, SMPD1, CBS, PEX19, HLA-DRB1, LRP5, CASR, VHL, KIF1B, HNF4A, DNAJC13, BMP2, FOXP3, EDNRB, AKT1, PLEC, HADHB, VDR, CYBB, WNT5A, MRPL3, CFTR, ATXN1, WAS, PEX3, UBE3A, CISD2, PIEZO1, ATP7A, LRP2, IKBKB, LIPE, HNRNPK, PRKCD, SNCA, PSTPIP1, MPDU1, HSPA9, EFNB1, CUBN, PTEN, FGFR3, NUBPL, MTTP, BRAF, NPC2, DDOST, G6PC3, ITGA6, SKIV2L, SUMF1, SAR1B, LCK, SSR4, ATXN2, FLNA, GIF, BIN1, SPINK5, PTS, NOTCH1, SERAC1, DHCR7, ASCL1, PRNP, TGFB1, PRKCSH, THBS4, TBP, NAGLU, EIF2AK3, AP3B1, IER3IP1, STAT1, NEB, NHLRC1, MUT, INSR, SLC37A4, HLA-B, PKLR, KIAA0196, SERPINH1, DST, UQCRB, CIDEC, NBEAL2, DPM1, SEC63, ZHX2, FTH1, PTRF, L1CAM, BDNF, SERPINA1, RET, AGA, HFE, HRAS, PEX16, FASLG, ATXN3, SPG7, DGAT1, POLR3B, SMAD3, NOTCH2, HSPG2, TNF, SPTB, ARSB, EPM2A, MTRR, DMPK, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), COPROPORPHYRIA, HARDEROPORPHYRIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PROTEUS SYNDROME, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, HYPOBETALIPOPROTEINEMIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MEIER-GORLIN SYNDROME 1, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA

APOB, KRAS, PINK1, ORC1, IGF2R, CPOX, FTL, LEP, STAT3, MT-CO2, SCO1, PPOX, AKT1, TP53, NDUFS1, COX6B1, ARL2BP, LIPE, VPS35, EGFR, ACTA2, CYC1, FBXL4, PANK2, ESR1, PNPT1, INS

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BASAL CELL NEVUS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ABETALIPOPROTEINEMIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MULTIPLE SULFATASE DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ADAMS-OLIVER SYNDROME 4, AGAMMAGLOBULINEMIA 3, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, METACHROMATIC LEUKODYSTROPHY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 5, ?TETRA-AMELIA SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PARKINSON DISEASE 1, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ?OSTEOGENESIS IMPERFECTA, TYPE X, VISCERAL MYOPATHY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, KNIEST DYSPLASIA, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPOBETALIPOPROTEINEMIA, CONGENITAL DISORDER OF DEGLYCOSYLATION, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYASTHENIC SYNDROME, CONGENITAL, 19, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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, PRADER-WILLI SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, PYRUVATE KINASE DEFICIENCY, AXENFELD-RIEGER SYNDROME, TYPE 1, POLYCYSTIC LIVER DISEASE, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, GLYCOGEN STORAGE DISEASE XII, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PCWH SYNDROME, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, WAARDENBURG SYNDROME, TYPE 4C, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), FIBROCHONDROGENESIS 1, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, PROTEUS SYNDROME, SOMATIC

FGA, SSR4, ALDOA, GP9, WNT5A, SUFU, APOA1, NGLY1, SERPINH1, SERPINA1, COL5A1, GP1BA, PRKCSH, TXN2, TGFB1, WNT3, COL3A1, PPARG, CD40LG, COLQ, GMPPB, F2, EIF2AK3, COL11A1, CD79A, PITX2, CIITA, VHL, LEP, NOS3, INSR, PKLR, PLG, NDN, AKT1, BMP2, APOB, SOX10, PCSK1, ESR1, GJA1, COL2A1, NAGLU, COL5A2, TP53, SEC63, ARSB, PDGFRA, TBP, ROR2, BDNF, COL1A1, DNM2, IL6, KDR, CCND1, PTEN, FKBP14, GATA6, EOGT, SNCA, ARSA, COL13A1, MUSK, MYH11, MTTP, HSPG2, AGT, STAT3, ITGA6, NOTCH1, INS, TNF, SUMF1, COL11A2, COL7A1

PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PCWH SYNDROME, MULTIPLE SULFATASE DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PEUTZ-JEGHERS SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIARRHEA 6, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, MULTIPLE ENDOCRINE NEOPLASIA IIB, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, NETHERTON SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, SPINOCEREBELLAR ATAXIA 42, STORMORKEN SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, ?REYNOLDS SYNDROME, GLYCOGEN STORAGE DISEASE XII, PETERS-PLUS SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, JOUBERT SYNDROME 6, ?IMMUNODEFICIENCY 22, HEMOCHROMATOSIS, TYPE 2B, CORNELIA DE LANGE SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, ANGELMAN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, OVARIAN HYPERSTIMULATION SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, 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}, CHYLOMICRON RETENTION DISEASE, 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, ALPHA-METHYLACETOACETIC ACIDURIA, STRIATONIGRAL DEGENERATION, INFANTILE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, SMITH-LEMLI-OPITZ SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, LATERAL MENINGOCELE SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, ALAGILLE SYNDROME 2, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NON-IMMUNE HYDROPS FETALIS, COACH SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, WOLFRAM SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, PRADER-WILLI SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, ?DYSTONIA, JUVENILE-ONSET, ?WEBB-DATTANI SYNDROME, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, FRAGILE X TREMOR/ATAXIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, PEROXISOME BIOGENESIS DISORDER 8B, HEMOCHROMATOSIS, TYPE 4, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MECKEL SYNDROME 3, WISKOTT-ALDRICH SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, 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, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, LATHOSTEROLOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CHILD SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CRANIOLENTICULOSUTURAL DYSPLASIA, MECONIUM ILEUS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, ?IMMUNODEFICIENCY 37, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HOLOPROSENCEPHALY 11, CPT DEFICIENCY, HEPATIC, TYPE IA, HYALINE FIBROMATOSIS SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, HAJDU-CHENEY SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, AGAMMAGLOBULINEMIA 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, GLANZMANN THROMBASTHENIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, DIABETES INSIPIDUS, NEPHROGENIC, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, 3MC SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, HYPOBETALIPOPROTEINEMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, NEPHRONOPHTHISIS 11, COWDEN SYNDROME 7, SENIOR-LOKEN SYNDROME 9, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 7, SICKLE CELL ANEMIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, WHITE-SUTTON SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, GALLBLADDER DISEASE 1, ?DIARRHEA 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CHEDIAK-HIGASHI SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, PARK7, HBB, APOB, LMNA, RAD21, ACTB, LBR, PIGT, G6PC, PSEN1, F2, B3GLCT, AGT, IGKC, EIF4A3, PPARG, LEP, PTDSS1, AGL, ALG3, NSDHL, BTK, TRAF3IP1, G6PC3, PIGC, STK11, ALG1, IGHM, DPM2, PNPLA2, SEC23A, DES, ALG2, NOTCH3, POR, SMAD4, TBK1, SLC37A4, CTNNB1, NR3C2, ARNT2, NECAP1, PIGY, TREX1, PIGO, KRAS, MEGF10, PLAU, EGFR, QDPR, SPINK5, NME1, POMK, LYST, NOS3, AGPAT2, LMNB1, IL6, TNF, CBS, RYR1, EPHX1, MOGS, ALG11, CPT1A, PLOD1, ESR1, STT3A, CCND1, POGZ, SC5D, AVPR2, HNF4A, FMR1, CNTN5, KDR, FKBP14, ALPL, ABCD4, GUCY2C, REEP1, PIGM, STAT3, NUP62, SEC23B, INS, CDON, FASLG, STIM1, PIGV, ITGB3, CACNA1G, ACAT1, GJA1, XYLT2, SLC9A6, DVL3, TMCO1, CTNS, HLA-DRB1, CASR, DGAT1, CNTN1, TXN2, BCS1L, FOXP3, TNFRSF1A, NDN, AKT1, GALE, VDR, MRPL3, CFTR, ATXN1, TP53, SEC63, TMEM67, PIEZO1, ABCB4, LRP2, EZH2, CDC6, PSTPIP1, ACTA2, PIGN, PTEN, HAMP, BCL10, DDOST, SOX10, SUMF1, SAR1B, LCK, SSR4, AR, FLNA, SLC40A1, ZAP70, MASP1, HNRNPK, SEPN1, PIGA, DHCR7, HPCA, XYLT1, TBP, DTNBP1, EIF2AK3, TGFB1, DMPK, STAT1, WAS, MT-CO2, IER3IP1, INSR, HLA-B, NOTCH1, PLG, FSHR, DST, ALDOA, TINF2, DPM1, UBE3A, ANTXR2, RPL11, L1CAM, ACD, PCNA, DVL1, RET, PEX19, SMC3, HRAS, PEX16, CISD2, MPDU1, POLR3B, SMAD3, CYP7B1, NOTCH2, HSPG2, EXT2, ARSB, HSD3B7, HFE, ALG13, SKIV2L, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BASAL CELL NEVUS SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, FRASER SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, ADAMS-OLIVER SYNDROME 6, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MYOTONIC DYSTROPHY 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, POLYCYTHEMIA VERA, SOMATIC, WAARDENBURG SYNDROME, TYPE 4A, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HOLOPROSENCEPHALY-7, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION 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, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HERMANSKY-PUDLAK SYNDROME 1, SPHEROCYTOSIS, TYPE 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, STROMME SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, WIEDEMANN-STEINER SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BECKWITH-WIEDEMANN SYNDROME, BILE ACID MALABSORPTION, PRIMARY, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MECKEL SYNDROME 10, 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, CONGENITAL SHORT BOWEL SYNDROME, GLANZMANN THROMBASTHENIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, JOUBERT SYNDROME 6, DIAMOND-BLACKFAN ANEMIA 8, CRANIOFRONTONASAL DYSPLASIA, 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, MULTIPLE ENDOCRINE NEOPLASIA IIA, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, GALLBLADDER DISEASE 1, GLUCOSE/GALACTOSE MALABSORPTION, PSEUDOHYPOALDOSTERONISM, TYPE I, MARTSOLF SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, 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}, PITT-HOPKINS-LIKE SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, 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, 3-M SYNDROME 1, OPITZ GBBB SYNDROME, TYPE II, STRIATONIGRAL DEGENERATION, INFANTILE, SADDAN, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, HERMANSKY-PUDLAK SYNDROME 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, ALAGILLE SYNDROME 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MECKEL SYNDROME 4, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, COACH SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, WIEACKER-WOLFF SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, CORNELIA DE LANGE SYNDROME 4, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 5, OTOPALATODIGITAL SYNDROME, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, ?DYSTONIA, JUVENILE-ONSET, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, VISCERAL MYOPATHY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 15, BOHRING-OPITZ SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CLOVE SYNDROME, SOMATIC, FRAGILE X TREMOR/ATAXIA SYNDROME, EPISODIC ATAXIA, TYPE 6, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 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, 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 VII, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, ALAGILLE SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, HEMOCHROMATOSIS TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, MYASTHENIC SYNDROME, CONGENITAL, 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?PRUNE BELLY SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ZIMMERMANN-LABAND SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PARAMYOTONIA CONGENITA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, DUBIN-JOHNSON SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, HOLOPROSENCEPHALY 11, ALSTROM SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, MECKEL SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SPLENIC HYPOPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LEPRECHAUNISM, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MUIR-TORRE SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, GITELMAN SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, 3MC SYNDROME 1, NOONAN SYNDROME 7, LYMPHOPROLIFERATIVE SYNDROME 1, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DYSAUTONOMIA, FAMILIAL, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ESCOBAR SYNDROME, SENIOR-LOKEN SYNDROME 9, HYPEREKPLEXIA HEREDITARY, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, RUBINSTEIN-TAYBI SYNDROME 2, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, APERT SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, ?MYASTHENIC SYNDROME, CONGENITAL, 17, SPINOCEREBELLAR ATAXIA 42, MECKEL SYNDROME 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, COENZYME Q10 DEFICIENCY, PRIMARY, 3, CHEDIAK-HIGASHI SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HERMANSKY-PUDLAK SYNDROME 7, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

LMNA, DSG1, PEX14, TRIM32, SCN11A, SQSTM1, FGFR1, CLMP, CTNNB1, CNTNAP1, COL1A1, NAA10, CHRNG, SCNN1A, ACTB, ITGB4, FAS, C3AR1, FERMT3, CENPF, RPS7, PSEN1, NRXN1, KLF1, KCNJ11, MLH1, AGT, EIF4A3, PPARG, TAF6, PIGT, COLQ, HIBCH, NCF4, ITGA2B, APOB, BTK, FGA, MYH7, F2, ENG, DST, KIF1B, PSTPIP1, CASP8, IKBKAP, FBP1, MMP1, PODXL, DES, PIK3CA, WNK1, CDC73, WAS, GFI1B, COL13A1, TGFBR2, SMAD4, ADCY6, CPT1A, SLC9A3, RAD21, SPECC1L, KIF1A, MUSK, HMGCS2, KMT2A, ACTA1, BRAF, KCNH1, SCN4A, ALMS1, SMARCA4, B9D2, PLAU, CHRND, ATXN1, EGFR, NKX2-5, TBK1, NME1, IGF2, ZAP70, NOS3, GCH1, LMNB1, KCNJ1, TNF, IGF2R, RYR1, EDNRA, SHANK3, CD3E, SCARB2, PKD1, PIK3CD, ABCA1, MYOM1, TALDO1, MEGF10, KRT18, ABCC2, CCND1, MET, JAK2, TPM2, EFTUD2, PPP1R15B, MPC1, GLIS3, CNTN5, TAF1, HSPD1, CUL7, GRIP1, UBN1, KRIT1, ACTA2, GLRA1, SF3B4, SMC1A, ITK, BDNF, CLDN16, RPS6KA3, RBBP8, GPHN, DVL3, KAT6B, AIRE, PTPRC, NOTCH1, ACD, ABCC8, CDON, BIN1, PTCH1, NCF1, TTR, RET, ITGB3, ZC4H2, CACNA1G, DVL1, TRAF3IP1, SMC3, EP300, RAB3GAP2, USP9X, PLEC, VAMP1, CEP290, STAT1, SLC1A3, DOK7, CASR, LEP, CNTN1, GJA1, CHRNA1, VHL, SLC6A3, NUP62, RAPSN, BMP2, RPGRIP1L, HRAS, FLNA, VPS11, AKT1, KRAS, INPPL1, ASCL1, DTNBP1, POLR2F, PDSS2, TP53, PRKCD, LRP2, TINF2, ABCB4, IKBKB, AXIN1, MAP2K2, FMR1, SCN1A, SLC10A2, GLI3, AQP2, SNCA, JAG1, TMEM67, CDKN1C, NOTCH3, HSPA9, EFNB1, PTEN, TJP2, FGFR3, ABCB11, CIITA, CHRM3, DDOST, TUBB4A, ITGA6, KIT, STAT3, ITCH, AHI1, LRP4, LCK, AR, SLC2A1, CHRNE, SMAD3, KRT8, MASP1, HNRNPK, DLL4, EPCAM, ASXL1, SLC17A5, KCNJ10, DNM2, CLDN1, LYST, AHNAK, CREBBP, TBP, CFTR, AP3B1, TERT, TGFB1, DMPK, NEB, POLR3A, PCNA, PARK2, INSR, HLA-B, NOTCH2, PLG, SERPINH1, SLC5A1, FGFR2, PACS1, KDR, IL6, ZHX2, NEU1, L1CAM, INS, STX11, BBS4, CLASP1, GPC3, CARD11, CHRNB1, APC, JAM3, EDNRB, FASLG, ANK1, ATXN3, EIF2AK3, ADA, OCLN, HES7, MYH11, PNPLA2, ADAM17, HSPG2, ESR1, PIK3R1, SLC12A3, SPATA5, ERCC4, SKI

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ADAMS-OLIVER SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, 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, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, 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, STROMME SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, 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, DIAMOND-BLACKFAN ANEMIA 8, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, 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}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, SADDAN, OPSISMODYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, WIEDEMANN-STEINER SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, CORNELIA DE LANGE SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, ?PRUNE BELLY SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, {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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, NOONAN SYNDROME 7, HYPOBETALIPOPROTEINEMIA, APERT SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

LMNA, C3AR1, F2, FGFR1, APOB, COL1A1, RAD21, ACTB, PIGT, IGF2R, SMARCA4, ATP6V1B2, AGT, PPARG, SCARB2, ITGA2B, GJA1, FGA, MYH7, ENG, DST, CASP8, PNPLA2, MMP1, DNM2, GFI1B, DLL4, CNTNAP1, SF3B4, RPS7, ACTA1, PLEC, MAP2K2, AR, IGF2, NOS3, TNF, CENPF, ITGB4, EDNRA, TAF6, KRT18, CCND1, JAK2, TPM2, KIF1A, RBBP8, WAS, KMT2A, PTPRC, INS, SMC3, TTR, RET, ITGB3, CTNNB1, SMAD4, STAT1, LEP, VHL, KIF1B, BMP2, SMC1A, KRAS, INPPL1, ASCL1, CARD11, ATXN1, TP53, LRP2, PLAU, AKT1, HSPA9, PTEN, FGFR3, CHRM3, ITGA6, KIT, STAT3, LCK, FLNA, BIN1, PRKCD, HNRNPK, KCNJ10, CLDN1, AHNAK, EIF2AK3, TGFB1, GPHN, VPS11, HLA-B, NOTCH1, PLG, SERPINH1, FGFR2, BRAF, IL6, L1CAM, GPC3, HRAS, EGFR, HES7, MYH11, HSPG2, ESR1, KDR, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPHEROCYTOSIS, TYPE 4, TRYPSINOGEN DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, 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, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, MELNICK-NEEDLES SYNDROME, INTERSTITIAL LUNG AND LIVER DISEASE, HERMANSKY-PUDLAK SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MACHADO-JOSEPH DISEASE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, SICKLE CELL ANEMIA, 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, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ANGELMAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BILE ACID MALABSORPTION, PRIMARY, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, POLYCYTHEMIA VERA, SOMATIC, ?IMMUNODEFICIENCY 22, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CRANIOFRONTONASAL DYSPLASIA, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, 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}, CHYLOMICRON RETENTION DISEASE, 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, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACHONDROGENESIS, TYPE IA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HERMANSKY-PUDLAK SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CARPENTER SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SENIOR-LOKEN SYNDROME 9, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MEDNIK SYNDROME, COACH SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, PALLISTER-HALL SYNDROME, CORNELIA DE LANGE SYNDROME 3, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, LOWE SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, BANNAYAN-RILEY-RUVALCABA SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, OTOPALATODIGITAL SYNDROME, TYPE I, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, VISCERAL MYOPATHY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CRYOHYDROCYTOSIS, ANGIOEDEMA, HEREDITARY, TYPES I AND II, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MECKEL SYNDROME 3, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, RENAL TUBULAR ACIDOSIS, DISTAL, AR, 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, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, HMG-COA SYNTHASE-2 DEFICIENCY, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SPINOCEREBELLAR ATAXIA 42, GLYCOGEN STORAGE DISEASE VII, CRANIOLENTICULOSUTURAL DYSPLASIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, WRINKLY SKIN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), DIABETES INSIPIDUS, NEPHROGENIC, COENZYME Q10 DEFICIENCY, PRIMARY, 3, SPLENIC HYPOPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, 3MC SYNDROME 1, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, NEPHRONOPHTHISIS 11, COWDEN SYNDROME 7, JOUBERT SYNDROME 6, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, {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, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, METHYLMALONIC ACIDURIA, MUT(0) TYPE, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, DENT DISEASE 2, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

SEC23A, F2, HBB, APOB, ACTB, GNAS, IGF2R, PSEN1, RAB23, KLF1, CYBA, AGT, IGKC, PPARG, LEP, CACNA1G, SLC6A3, UBQLN2, ITGA2B, WNT5A, BTK, FGA, SLC17A5, IKBKAP, DNM2, HLA-DQA1, PIK3CA, WAS, FGG, SERPING1, TBK1, DLD, OCRL, COL2A1, ATP6V0A2, SF3B4, PTEN, HMGCS2, ACTA1, NECAP1, GP1BA, GRIP1, SOX2, PARK2, APOA1, FSHR, PLAU, EGFR, NKX2-5, CREBBP, IGF2, ZAP70, NOS3, PFKM, TNF, CIITA, IL21, SQSTM1, CD3E, SCARB2, AKT2, ABCA1, MEGF10, TUBB4A, CCND1, MET, JAK2, CD40LG, VPS33B, GLIS3, TCIRG1, EP300, SLC4A1, HSPD1, ROR2, GSC, STX11, GPHN, AIRE, SEC23B, INS, SMC3, PITX2, TRIP11, GATA1, FASLG, NCF1, RET, ITGB3, AGL, TRAF3IP1, IL2RA, CTNNB1, SMAD4, DVL3, FGB, VAMP1, HLA-DRB1, TGFB3, LRP5, CASR, AP1S1, GJA1, KIF1B, BMP2, AKT1, CYBB, PCSK1, CFTR, MUT, PDSS2, TP53, UBE3A, TMEM67, CASP8, ATXN3, GLI3, AQP2, SNCA, PSTPIP1, EFNB1, PRSS1, ACADM, MUSK, ABCB11, DDOST, ITGA6, SCYL1, OCLN, AHI1, LCK, FLNA, VPS45, BIN1, MASP1, HNRNPK, PRKCD, CLDN1, GATA6, TBP, DTNBP1, ATP7A, TGFB1, STAT1, STAT3, VPS11, PCNA, ATXN1, INSR, HLA-B, PLG, ALDOA, PACS1, IL6, MARS, MARS2, PDGFRA, L1CAM, BDNF, SERPINA1, GPC3, CTCF, CTLA4, HRAS, HLA-DQB1, SLC10A2, AP3B1, ADA, EPOR, MYH11, HSPG2, SAR1B, EXOC8, PIK3R1

ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 8B, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 14B, PEROXISOME BIOGENESIS DISORDER 3B

PEX12, PEX16, PEX13, PEX11B, PEX3, PEX2, PEX19, PEX26, ABCD1

ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 3B, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PEROXISOME BIOGENESIS DISORDER 14B, LOEYS-DIETZ SYNDROME 3, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4B, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE

PEX12, PEX16, PEX1, PEX14, HSD17B4, PEX11B, PEX3, SMAD3, PEX13, PEX2, ACOX1, MAP2K2, IKBKAP, ABCD1, ABCD4, PEX19, PEX6, ABCD3

LOEYS-DIETZ SYNDROME 5, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, TRYPSINOGEN DEFICIENCY, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ANGIOEDEMA, HEREDITARY, TYPES I AND II, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, GLANZMANN THROMBASTHENIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPOBETALIPOPROTEINEMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SICKLE CELL ANEMIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, RUBINSTEIN-TAYBI SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, GLYCOGEN STORAGE DISEASE XII, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PROTEUS SYNDROME, SOMATIC

ACTA1, PCSK1, ITGB3, HBB, CTNNB1, APOA1, SERPINA1, ADA, FGB, TGFB1, IGF2, NOS3, CTCF, STAT1, TGFB3, ALDOA, AGT, INSR, LEP, PLG, ITGA2B, APOB, FGA, IL6, SERPING1, EP300, TBP, F2, AKT1, FASLG, FGG, PRSS1, HSPG2, TNF, INS, PTEN

VERHEIJ SYNDROME, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, TYROSINEMIA, TYPE I, MANNOSIDOSIS, ALPHA-, TYPES I AND II, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, SUPRANUCLEAR PALSY, PROGRESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, SELECTIVE T-CELL DEFECT, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, HERMANSKY-PUDLAK SYNDROME 1, ACRODERMATITIS ENTEROPATHICA, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, GAUCHER DISEASE, TYPE IIIC, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, PEROXISOME BIOGENESIS DISORDER 14B, COFFIN-SIRIS SYNDROME 3, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, FLOATING-HARBOR SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HYPERBILIVERDINEMIA, PRADER-WILLI SYNDROME, CHOREOACANTHOCYTOSIS, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CARPENTER SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, MUCOPOLYSACCHARIDOSIS VII, HEMOCHROMATOSIS, TYPE 4, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, COWDEN SYNDROME 7, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, MEIER-GORLIN SYNDROME 2, ABLEPHARON-MACROSTOMIA SYNDROME, HEMOCHROMATOSIS TYPE 1, HYPER-IGD SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MECONIUM ILEUS, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, VAN MALDERGEM SYNDROME 2, ASPARTYLGLUCOSAMINURIA, HMG-COA SYNTHASE-2 DEFICIENCY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ADAMS-OLIVER SYNDROME 6, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, BOHRING-OPITZ SYNDROME, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, EHLERS-DANLOS SYNDROME, TYPE IV, GLANZMANN THROMBASTHENIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DYSAUTONOMIA, FAMILIAL, CITRULLINEMIA, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), OBESITY WITH IMPAIRED PROHORMONE PROCESSING, CHEDIAK-HIGASHI SYNDROME, MUCOPOLYSACCHARIDOSIS IVA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, GAUCHER DISEASE, PERINATAL LETHAL, GLYCOGEN STORAGE DISEASE VI, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, MYOTONIC DYSTROPHY 1, NIJMEGEN BREAKAGE SYNDROME, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, BARTTER SYNDROME, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, PROLIDASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MACHADO-JOSEPH DISEASE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, FARBER LIPOGRANULOMATOSIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SPHEROCYTOSIS, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, ARGININOSUCCINIC ACIDURIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, TYROSINEMIA, TYPE III, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, SHPRINTZEN-GOLDBERG SYNDROME, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BILE ACID MALABSORPTION, PRIMARY, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 8, SPHEROCYTOSIS, TYPE 2, DYSKERATOSIS CONGENITA, X-LINKED, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, OCCIPITAL HORN SYNDROME, IMMUNODEFICIENCY 19, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, MARTSOLF SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, PSEUDOHYPOALDOSTERONISM, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, CARPENTER SYNDROME 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, ALPHA-METHYLACETOACETIC ACIDURIA, ACHONDROGENESIS IB, SADDAN, GAPO SYNDROME, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, HERMANSKY-PUDLAK SYNDROME 2, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, GAUCHER DISEASE, TYPE I, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, JOUBERT SYNDROME 10, DIHYDROPYRIMIDINURIA, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, SHWACHMAN-DIAMOND SYNDROME, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, LACTASE DEFICIENCY, CONGENITAL, EVEN-PLUS SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, FRUCTOSE INTOLERANCE, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, SPINOCEREBELLAR ATAXIA 1, PRIMARY LATERAL SCLEROSIS, JUVENILE, LACTASE PERSISTENCE/NONPERSISTENCE, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, MECKEL SYNDROME 3, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, RENAL TUBULAR ACIDOSIS, DISTAL, AR, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, ALAGILLE SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, ?IMMUNODEFICIENCY 22, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, HYPEREKPLEXIA HEREDITARY, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, KRABBE DISEASE, ROBINOW SYNDROME, ?PRUNE BELLY SYNDROME, TRYPSINOGEN DEFICIENCY, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, FIBROCHONDROGENESIS 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PYRUVATE CARBOXYLASE DEFICIENCY, GALLBLADDER DISEASE 1, GITELMAN SYNDROME, LESCH-NYHAN SYNDROME, ULNAR-MAMMARY SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, 3MC SYNDROME 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, JOUBERT SYNDROME 6, GLYCOGEN STORAGE DISEASE 0, MUSCLE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, OSTEOGENESIS IMPERFECTA, TYPE XIII, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, ?MICROPHTHALMIA, SYNDROMIC 1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GAUCHER DISEASE, TYPE III, TRANSCOBALAMIN II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, GAUCHER DISEASE, TYPE II, HERMANSKY-PUDLAK SYNDROME 7, BARDET-BIEDL SYNDROME 10, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, IMMUNODEFICIENCY 15, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPHEROCYTOSIS, TYPE 4, DIARRHEA 6, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, GALACTOSE EPIMERASE DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, ANGIOEDEMA, HEREDITARY, TYPE III, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?OSTEOGENESIS IMPERFECTA, TYPE X, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, BETA-UREIDOPROPIONASE DEFICIENCY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, NIEMANN-PICK DISEASE TYPE C1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, SPLENIC HYPOPLASIA, MECKEL SYNDROME 10, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, CONGENITAL SHORT BOWEL SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, LOEYS-DIETZ SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, HYPERLIPOPROTEINEMIA, TYPE IB, AXENFELD-RIEGER SYNDROME, TYPE 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, CHYLOMICRON RETENTION DISEASE, COMBINED SAP DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 4B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, KAPPA LIGHT CHAIN DEFICIENCY, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, NETHERTON SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COENZYME Q10 DEFICIENCY, PRIMARY, 5, VISCERAL MYOPATHY, CRYOHYDROCYTOSIS, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS TYPE IIID, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, HOLOPROSENCEPHALY-7, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 17, AMYOTROPHIC LATERAL SCLEROSIS 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, PARAMYOTONIA CONGENITA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, HOLOPROSENCEPHALY 11, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SMED STRUDWICK TYPE, MUIR-TORRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, OROFACIODIGITAL SYNDROME I, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PALLISTER-HALL SYNDROME, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PANCREATIC LIPASE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, RETINITIS PIGMENTOSA 71, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, HETEROTAXY, VISCERAL, 5, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, COACH SYNDROME, POLYCYTHEMIA VERA, SOMATIC, INTERSTITIAL LUNG AND LIVER DISEASE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TRANSALDOLASE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CARDIOFACIOCUTANEOUS SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, AGAMMAGLOBULINEMIA, X-LINKED 1, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, STROMME SYNDROME, GLYCOGEN STORAGE DISEASE XII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, TRIGONOCEPHALY 1, BURN-MCKEOWN SYNDROME, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, DIAPHANOSPONDYLODYSOSTOSIS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, BIRT-HOGG-DUBE SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PYRUVATE KINASE DEFICIENCY, MAST SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, CYANOSIS, TRANSIENT NEONATAL, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?MECKEL SYNDROME 9, WHITE SPONGE NEVUS 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, MULTIPLE ENDOCRINE NEOPLASIA IIA, GLUCOSE/GALACTOSE MALABSORPTION, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, CITRULLINEMIA, ADULT-ONSET TYPE II, PITT-HOPKINS-LIKE SYNDROME 2, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), MULTIPLE ENDOCRINE NEOPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, VAN MALDERGEM SYNDROME 1, ARGININEMIA, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, THYROID DYSHORMONOGENESIS 1, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, GM1-GANGLIOSIDOSIS, TYPE III, PANCREATIC AGENESIS 1, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, LOWE SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, NIEMANN-PICK DISEASE, TYPE C2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CORNELIA DE LANGE SYNDROME 3, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, LYMPHOPROLIFERATIVE SYNDROME 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, LATHOSTEROLOSIS, CHILD SYNDROME, METACHROMATIC LEUKODYSTROPHY, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, WRINKLY SKIN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, AGAMMAGLOBULINEMIA 6, ABETALIPOPROTEINEMIA, ANGIOEDEMA, HEREDITARY, TYPES I AND II, RENPENNING SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, WEAVER SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, LYMPHOPROLIFERATIVE SYNDROME 2, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MUCOPOLYSACCHARIDOSIS IH/S, MOLYBDENUM COFACTOR DEFICIENCY B, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, SIALURIA, DENT DISEASE 2, HEMOCHROMATOSIS, TYPE 2B, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

UROD, RPSA, HBB, FGFR1, CLMP, LMNA, BCKDHB, EPCAM, GP1BA, GNAS, WNT5A, CIITA, COL3A1, MUC5B, PUF60, FTL, SPG21, TRMT10A, LRRK2, SLC6A3, CDC6, CD3D, SPINK1, ENG, DST, PTRH2, FH, SEC23A, WNK1, GFI1B, OCRL, CREBBP, GNE, DYNC2H1, AQP2, PHKB, SCN4A, SOX2, APOA1, FSHR, ABCD3, AR, NDUFA1, CD79A, THRA, SPINT2, CBS, BUB1B, IGF2R, SKIV2L, ASAH1, KCNJ10, TAF6, BTD, TNXB, PIK3CD, ALAD, MEGF8, STT3A, CCND1, TALDO1, JAK2, ANK1, SUCLA2, HNF4A, SGSH, CNTN5, HSPD1, ROR2, GUSB, RYR1, TNNT2, SH2D1A, XPNPEP3, KMT2A, AHI1, DNMT3A, SMC3, NDUFS7, PMM2, ACVR1B, GATA1, PPP1R15B, ALDOA, AGL, CTNNB1, IL2RA, SERPINC1, HNF1B, SMAD4, BCS1L, DVL3, GNMT, CHST14, TAF1, CEP290, IGHM, LRP5, FAT4, PCK1, PQBP1, NUP62, CHRNA1, AKT1, RIPK4, INPPL1, LRPPRC, SLC5A1, UBE3A, ABCB4, HFE, HNRNPK, EZH2, GLI3, NSDHL, CTNS, PEX13, ARL6, HSPA9, EFNB1, MBD5, IL1RN, HAMP, NOD2, MTM1, CDON, POLA1, SLC2A1, GIF, MASP1, PINK1, PIGA, LAMA2, NONO, SRCAP, GMPPA, SPG7, RPS26, HPD, DMPK, STAT3, VPS11, HLA-B, NDUFS4, LIPE, PTPRC, THBS4, KRT13, PARK2, BDNF, ADAM17, CHAT, ACVRL1, LIPA, ATXN3, AP3B1, SARS2, POLR3B, CYP7B1, SPTB, ACTG2, HADHB, NDUFS2, PEX14, TRIM32, CYBA, TREX1, APOB, CNTNAP1, MMP1, NAA10, MT-CO2, ACTB, SEMA3E, MOCS2, RPS7, PSEN1, NPC1, COL11A2, ASCC1, NCF4, TSR2, ITGA2B, BMP1, IDUA, FGA, MYH7, SLC25A1, IKBKAP, NEK8, DES, MT-CO3, PKHD1, POLE, GALNS, PRF1, CDC73, FGG, DLL4, NRAS, CD79B, SLC9A3, IL2RG, SF3B4, TGFBR2, SHOC2, DDC, SCN11A, ALDOB, PLAU, SERPINA1, ADCY6, NME1, MPI, PYGL, PKLR, MYCN, TTC37, GNS, EDNRA, UPB1, CD3E, SCARB2, SUCLG1, GTPBP3, ESR1, B9D2, EARS2, MYOM1, VPS33B, KAT6B, MEN1, FBP1, NLRC4, ACTA2, VIPAS39, GPHN, HMGCS2, BRAF, SLC26A3, CUBN, AMN, NCF1, ALPL, NDUFB3, FOLR1, BLNK, PLEC, FGB, SMAD9, CTCF, UBR1, SC5D, GMPPB, PEX11B, NFKB2, HBG2, BMP2, HRAS, NDN, FOXP3, SMC1A, GBE1, TXNL4A, PCSK1, ASCL1, DVL1, ATXN1, AXIN2, TP53, EGFR, ITPA, LRP2, IKBKB, SCNN1G, SNCA, PSTPIP1, PRSS1, TJP2, FREM2, KCNH1, ANTXR1, TUBB4A, KIT, MT-ND3, SCYL1, AGPAT2, NDUFV1, OTC, VDR, SLC26A2, VPS45, CYBB, NODAL, KRT8, ASXL1, B3GAT3, TGFB1, SLC39A4, PEPD, GATA6, NAGLU, EIF2AK3, STAT1, EXOC8, ZBTB24, MUT, NOS3, PLG, COQ9, NDUFB9, NIPBL, TINF2, WDR60, SHMT1, OFD1, PCNA, COG4, AGA, APC, KIF1BP, VPS35, GDNF, TMEM67, SLC10A2, ADA, SMAD3, HSPG2, TNF, FCGR2A, ITGA6, C10orf2, PDX1, DYRK1B, F2, TNFRSF1A, PKD1, CASP10, SALL1, RAD21, ALDH6A1, FAS, BRCA2, SQSTM1, CENPF, PEX6, EFTUD2, NRXN1, PARK7, ATP6V1B2, AGT, IGKC, LEP, PPP1R3A, PSAT1, GALC, CLDN1, IRX5, MCM6, NEB, STK11, FMR1, CDKN1C, BCOR, PNPLA2, PIK3CA, ABCD1, LTBP4, BMPER, JAG1, HADHA, SBDS, TBK1, COL2A1, NUBPL, ACTA1, GRIP1, SMARCA4, TWIST2, QDPR, LMBRD1, IGF2, FERMT3, NOTCH2, MAPT, CAD, IL21, NPC2, SCNN1A, MET, MOGS, ABCA1, PLOD1, DGUOK, ICOS, PSMB8, PNPT1, SNCAIP, CEL, NFKBIA, MPC1, SERPING1, PFKM, FKBP14, MLH1, GUCY2C, GSC, GP9, SLC25A13, RPS6KA3, WAS, INS, ABCC8, COL7A1, ITGB3, ACAT1, SMPD1, KCNN4, SLC22A5, SHANK3, HLA-DRB1, CNTN1, GALNT14, VHL, IL10RB, RAPSN, KIF1B, LTBP2, CHMP1A, PSAP, TSC2, ABCB11, KLF1, FBN1, PC, MT-ND1, CHMP2B, ORC4, POLD1, TERT, TTN, PTEN, FGFR3, MTTP, POLG2, CFH, CFTR, BTK, VPS13A, GDF2, GPD1, FAH, F12, SSR4, PGM1, SLC40A1, SMARCB1, CD40LG, PRKCD, MT-ND4, B9D1, PRKCSH, AHNAK, TNFAIP3, TBP, GFRA1, ATP7A, ITGB4, DKC1, APOC2, FADD, LRBA, RBCK1, GBA, ZHX2, ABCC9, FTH1, HPCA, ACD, STX11, CLASP1, TCN2, PAM16, EDNRB, POLG, MTR, CD27, OCLN, ZAP70, SLC12A1, SLC12A3, DHFR, ARSB, PNLIP, FUCA1, PODXL, COL1A1, PABPN1, ARG1, PIGT, DNM2, GLB1, TBX3, NBN, PPARG, COL5A1, HIBCH, NR4A2, DSG1, HPRT1, SOX10, BLVRA, MAN2B1, PNPO, AARS, CASP8, SUFU, NEU1, ALG2, NOTCH1, EFEMP2, ERCC2, FGD1, CTLA4, RAB3GAP2, JAK3, DLD, SLC5A5, CPS1, HLA-DQA1, ATP6V0A2, MATR3, RRM2B, PTCH1, CECR1, FBLN5, FLCN, PACS1, LYST, SCNN1B, CDAN1, GCH1, LMNB1, IL6, AKR1D1, ARSA, SDHB, TARDBP, AKT2, LIFR, BCKDHA, KRT18, ABCC2, MRPL44, GLA, ASS1, TPM2, AVPR2, NCF2, EP300, SLC4A1, AP1S1, NR3C2, NOTCH3, KIF1A, SLC7A7, ITK, DTNBP1, SEC23B, SPATA5, DCHS1, JAM3, PITX2, PAX8, LARS, TTR, GPC3, CACNA1G, GJA1, CFHR3, INPP5E, SLC9A6, RPS28, ALS2, MECP2, MVK, CASR, FOXF1, GCK, BBS10, KRAS, GALE, NDUFS1, MRPL3, CARD11, SPINK5, GYS1, FASLG, PHOX2B, MAP2K2, MCM4, ITCH, UBQLN2, DNMT3B, MUSK, ACADM, CHRM3, DDOST, AXIN1, GAA, SUMF1, LCK, FLNA, DNAJC13, BIN1, RAB23, HCCS, DPYS, ATXN2, ASL, PRNP, EXT2, ORC1, INSR, IFT172, IL10RA, SERPINH1, MSH2, FGFR2, PLCG2, SLC16A1, MARS, RPL11, PDGFRA, L1CAM, LCT, RET, PEX19, NTF3, PNP, MTRR, POLR2F, EXOSC3, MPDU1, CFHR1, SAR1B, MYH11, NDUFS3, CR2, KDR, HPS1, KRIT1, TPM3, PIK3R1

EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MULTIPLE SULFATASE DEFICIENCY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?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, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HERMANSKY-PUDLAK SYNDROME 1, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SADDAN, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, CORPUS CALLOSUM, PARTIAL AGENESIS OF, NIEMANN-PICK DISEASE TYPE C1, OCULODENTODIGITAL DYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FEINGOLD SYNDROME, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ANGELMAN SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CITRULLINEMIA, MUCOPOLYSACCHARIDOSIS IH, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, COMBINED SAP DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CARPENTER SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, ?IMMUNODEFICIENCY 37, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, NIEMANN-PICK DISEASE, TYPE C2, ?DYSTONIA, JUVENILE-ONSET, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS TYPE IIID, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MUCOPOLYSACCHARIDOSIS IH/S, 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, METACHROMATIC LEUKODYSTROPHY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, ASPARTYLGLUCOSAMINURIA, 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, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, DIABETES INSIPIDUS, NEPHROGENIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, GM1-GANGLIOSIDOSIS, TYPE III, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AGAMMAGLOBULINEMIA 3, FARBER LIPOGRANULOMATOSIS, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KRABBE DISEASE, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, PROTEUS SYNDROME, SOMATIC

FUCA1, PKD1, RAD21, ACTB, FAS, FERMT3, ALDOA, AGT, IGKC, PPARG, LRRK2, NCF4, GALC, BTK, FGA, MYH7, MAN2B1, CCDC115, LRBA, NEU1, PIK3CA, NPC1, PRF1, TBK1, SMARCA4, APOA1, PLAU, NME1, CD79A, SQSTM1, NOS3, MYCN, TNF, ARSA, ASAH1, SCARB2, PIK3CD, GTPBP3, CEL, ASS1, STAT1, VPS33B, DVL1, NCF2, TAF1, AP1S1, ITK, STAT3, INS, CUBN, FASLG, NCF1, GLB1, GJA1, IL2RA, DVL3, GNS, CTNS, HLA-DRB1, CASR, AKT1, CYBB, MRPL3, CFTR, ATXN1, TP53, UBE3A, LRP2, SNCA, ARSB, AQP2, FGFR3, NPC2, IDUA, GAA, KIT, SUMF1, PSAP, RAB23, PINK1, LIPA, TGFB1, TNFAIP3, TBP, NAGLU, AP3B1, BCL10, DMPK, EXOC8, SPATA5, HLA-B, PLG, FADD, IL6, GLA, L1CAM, PCNA, AGA, HRAS, EGFR, ADA, POLR3B, HSPG2, ESR1, TINF2, HPS1

PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), VERHEIJ SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, SUPRANUCLEAR PALSY, PROGRESSIVE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, SELECTIVE T-CELL DEFECT, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, MULTIPLE SULFATASE DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, GLUTARICACIDURIA, TYPE I, HERMANSKY-PUDLAK SYNDROME 1, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, ACRODERMATITIS ENTEROPATHICA, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 19, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, BARDET-BIEDL SYNDROME 17, SICKLE CELL ANEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, ?REYNOLDS SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ALAGILLE SYNDROME 2, GAUCHER DISEASE, TYPE IIIC, INSOMNIA, FATAL FAMILIAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, HELSMOORTEL-VAN DER AA SYNDROME, BOHRING-OPITZ SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, LEPRECHAUNISM, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, HYPERCHLORHIDROSIS, ISOLATED, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, CRANIOFRONTONASAL DYSPLASIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, GLUCOSE/GALACTOSE MALABSORPTION, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, PEROXISOME BIOGENESIS DISORDER 14B, COFFIN-SIRIS SYNDROME 3, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, FLOATING-HARBOR SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, IRON-REFRACTORY IRON DEFICIENCY ANEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HYPERBILIVERDINEMIA, PRADER-WILLI SYNDROME, ?TETRA-AMELIA SYNDROME, CITRULLINEMIA, SPINOCEREBELLAR ATAXIA 10, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, JOUBERT SYNDROME 15, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), CARPENTER SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRICHOHEPATOENTERIC SYNDROME 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, SPINOCEREBELLAR ATAXIA 19, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, MUCOPOLYSACCHARIDOSIS VII, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), AGAMMAGLOBULINEMIA 1, CILIARY DYSKINESIA, PRIMARY, 6, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, COWDEN SYNDROME 7, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, MEIER-GORLIN SYNDROME 2, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 5, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, MECONIUM ILEUS, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, HYPER-IGD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEBER CONGENITAL AMAUROSIS 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, TYROSINEMIA, TYPE I, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, VAN MALDERGEM SYNDROME 2, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, HMG-COA SYNTHASE-2 DEFICIENCY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ADAMS-OLIVER SYNDROME 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, PARAMYOTONIA CONGENITA, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, CPT DEFICIENCY, HEPATIC, TYPE II, COENZYME Q10 DEFICIENCY, PRIMARY, 3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, TARP SYNDROME, IVIC SYNDROME, GLANZMANN THROMBASTHENIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, NOONAN SYNDROME 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, DYSAUTONOMIA, FAMILIAL, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, CAUDAL REGRESSION SYNDROME, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, CURRARINO SYNDROME, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), UROFACIAL SYNDROME 1, WHITE-SUTTON SYNDROME, ?DIARRHEA 7, CHEDIAK-HIGASHI SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, COLE DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, GLYCOGEN STORAGE DISEASE VI, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, CILIARY DYSKINESIA, PRIMARY, 25, MEDNIK SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, MYOTONIC DYSTROPHY 1, NIJMEGEN BREAKAGE SYNDROME, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, MELNICK-NEEDLES SYNDROME, BARTTER SYNDROME, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, D-BIFUNCTIONAL PROTEIN DEFICIENCY, LACTASE DEFICIENCY, CONGENITAL, MACHADO-JOSEPH DISEASE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, FARBER LIPOGRANULOMATOSIS, SPHEROCYTOSIS, TYPE 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SPHEROCYTOSIS, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, MUCOLIPIDOSIS II ALPHA/BETA, STORMORKEN SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SHPRINTZEN-GOLDBERG SYNDROME, HEMOCHROMATOSIS, TYPE 2A, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, {AUTISM, SUSCEPTIBILITY TO, 18}, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, MYOPATHY, SPHEROID BODY, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BILE ACID MALABSORPTION, PRIMARY, OMODYSPLASIA 1, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, C SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, OLIGODONTIA-COLORECTAL CANCER SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, DIAMOND-BLACKFAN ANEMIA 8, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, SPHEROCYTOSIS, TYPE 2, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, ALAGILLE SYNDROME, OCCIPITAL HORN SYNDROME, IMMUNODEFICIENCY 19, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, FANCONI ANEMIA, COMPLEMENTATION GROUP O, MARTSOLF SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, PSEUDOHYPOALDOSTERONISM, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ALPHA-METHYLACETOACETIC ACIDURIA, ACHONDROGENESIS IB, SADDAN, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OPSISMODYSPLASIA, HERMANSKY-PUDLAK SYNDROME 2, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, MUCOLIPIDOSIS IV, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, GAUCHER DISEASE, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, JOUBERT SYNDROME 10, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, PROLIDASE DEFICIENCY, EVEN-PLUS SYNDROME, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, PEROXISOME BIOGENESIS DISORDER 3B, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 5, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, SPINOCEREBELLAR ATAXIA 1, LACTASE PERSISTENCE/NONPERSISTENCE, MECKEL SYNDROME 7, NON-IMMUNE HYDROPS FETALIS, MEIER-GORLIN SYNDROME 3, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, NEPHRONOPHTHISIS 2, INFANTILE, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, MECKEL SYNDROME 3, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, RENAL TUBULAR ACIDOSIS, DISTAL, AR, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, CILIARY DYSKINESIA, PRIMARY, 13, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, ?IMMUNODEFICIENCY 22, BECKWITH-WIEDEMANN SYNDROME, HYPEREKPLEXIA HEREDITARY, CORNELIA DE LANGE SYNDROME 2, ROBINOW SYNDROME, CHOPS SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, SIALIC ACID STORAGE DISORDER, INFANTILE, HYALINE FIBROMATOSIS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, CILIARY DYSKINESIA, PRIMARY, 26, ESCOBAR SYNDROME, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, GALLBLADDER DISEASE 1, GITELMAN SYNDROME, ULNAR-MAMMARY SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, 3MC SYNDROME 1, DYSTONIA 16, HYPOBETALIPOPROTEINEMIA, CONGENITAL SHORT BOWEL SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, JOUBERT SYNDROME 6, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, SENIOR-LOKEN SYNDROME 9, GLYCOGEN STORAGE DISEASE 0, MUSCLE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, OSTEOGENESIS IMPERFECTA, TYPE XIII, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TRANSCOBALAMIN II DEFICIENCY, CPT II DEFICIENCY, LETHAL NEONATAL, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, GAUCHER DISEASE, TYPE II, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, OMENN SYNDROME, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DIARRHEA 6, WILSON DISEASE, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, COCKAYNE SYNDROME, TYPE B, AMISH INFANTILE EPILEPSY SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, ANGIOEDEMA, HEREDITARY, TYPE III, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?OSTEOGENESIS IMPERFECTA, TYPE X, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ABLEPHARON-MACROSTOMIA SYNDROME, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, SITOSTEROLEMIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PAROXYSMAL EXTREME PAIN DISORDER, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, NIEMANN-PICK DISEASE TYPE C1, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, SPLENIC HYPOPLASIA, MECKEL SYNDROME 10, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, GALACTOSEMIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, LOEYS-DIETZ SYNDROME 3, YUNIS-VARON SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP L, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, HYDROLETHALUS SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, BURN-MCKEOWN SYNDROME, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MICROPHTHALMIA, SYNDROMIC 12, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, OHDO SYNDROME, X-LINKED, ALLAN-HERNDON-DUDLEY SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, CHYLOMICRON RETENTION DISEASE, COMBINED SAP DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, PEROXISOME BIOGENESIS DISORDER 4B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOECTODERMAL DYSPLASIA 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, WOLFRAM SYNDROME 2, KAPPA LIGHT CHAIN DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MILLER SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, NEPHRONOPHTHISIS 3, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, NETHERTON SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, VISCERAL MYOPATHY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, GAUCHER DISEASE, TYPE III, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, EPISODIC ATAXIA, TYPE 6, IMMUNODEFICIENCY, COMMON VARIABLE, 7, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OLMSTED SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY, COMMON VARIABLE, 2, HOLOPROSENCEPHALY-7, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 17, AMYOTROPHIC LATERAL SCLEROSIS 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, COPROPORPHYRIA, HARDEROPORPHYRIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, NEPHRONOPHTHISIS 15, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, OPITZ-KAVEGGIA SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SESAME SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, AGAMMAGLOBULINEMIA 4, HOLOPROSENCEPHALY 11, CPT DEFICIENCY, HEPATIC, TYPE IA, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2, FAMILIAL MEDITERRANEAN FEVER, AD, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, GLYCOGEN STORAGE DISEASE IA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SMED STRUDWICK TYPE, MUIR-TORRE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, OROFACIODIGITAL SYNDROME I, MYOTONIA CONGENITA, RECESSIVE, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, AICARDI-GOUTIERES SYNDROME 5, CONGENITAL DISORDER OF DEGLYCOSYLATION, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ARTERIAL TORTUOSITY SYNDROME, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, RUBINSTEIN-TAYBI SYNDROME 2, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, MICROCEPHALY, AMISH TYPE, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 17, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPERLIPOPROTEINEMIA, TYPE 1D, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, STAR SYNDROME, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, HETEROTAXY, VISCERAL, 5, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, 3-M SYNDROME 1, GALLOWAY-MOWAT SYNDROME, ?IMMUNODEFICIENCY 37, COACH SYNDROME, POLYCYTHEMIA VERA, SOMATIC, PYRUVATE CARBOXYLASE DEFICIENCY, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, INTERSTITIAL LUNG AND LIVER DISEASE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TRANSALDOLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, CORNELIA DE LANGE SYNDROME 3, LYMPHEDEMA, HEREDITARY, III, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, GLYCOGEN STORAGE DISEASE XII, STROMME SYNDROME, PETERS-PLUS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, TRIGONOCEPHALY 1, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, PITT-HOPKINS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, RETT SYNDROME, CONGENITAL VARIANT, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SMITH-LEMLI-OPITZ SYNDROME, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, BIRT-HOGG-DUBE SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, BARDET-BIEDL SYNDROME 8, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, COENZYME Q10 DEFICIENCY, PRIMARY, 7, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PYRUVATE KINASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, MAST SYNDROME, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, CYANOSIS, TRANSIENT NEONATAL, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?MECKEL SYNDROME 9, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, ROTHMUND-THOMSON SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 1, CITRULLINEMIA, ADULT-ONSET TYPE II, PITT-HOPKINS-LIKE SYNDROME 2, NEPHRONOPHTHISIS 11, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), MECKEL SYNDROME 1, ACHONDROGENESIS, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, VAN MALDERGEM SYNDROME 1, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ARGININEMIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, THYROID DYSHORMONOGENESIS 1, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, INFANTILE LIVER FAILURE SYNDROME 2, PANCREATIC AGENESIS 1, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, LOWE SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, NIEMANN-PICK DISEASE, TYPE C2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, GRAY PLATELET SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, LYMPHOPROLIFERATIVE SYNDROME 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, LATHOSTEROLOSIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CHILD SYNDROME, CRYOHYDROCYTOSIS, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, WRINKLY SKIN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, AGAMMAGLOBULINEMIA 6, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ABETALIPOPROTEINEMIA, UROFACIAL SYNDROME 2, ANGIOEDEMA, HEREDITARY, TYPES I AND II, RENPENNING SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, FOLATE MALABSORPTION, HEREDITARY, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, DIABETES INSIPIDUS, NEPHROGENIC, WEAVER SYNDROME, HEMOCHROMATOSIS, TYPE 4, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MISMATCH REPAIR CANCER SYNDROME, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, LYMPHOPROLIFERATIVE SYNDROME 2, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, WISKOTT-ALDRICH SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, COFFIN-LOWRY SYNDROME, CODAS SYNDROME, KABUKI SYNDROME 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, DENT DISEASE 2, HEMOCHROMATOSIS, TYPE 2B, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

UROD, CHMP2B, MSH6, HBB, FGFR1, SLC5A5, DCHS1, NGLY1, PKD1, ACADS, GP1BA, LBR, GNAS, WNT5A, CIITA, COL3A1, MCOLN1, PUF60, FTL, KRIT1, ENPP1, B3GAT3, LRRK2, ALG3, CDC6, CLMP, TRIP4, SLC19A1, SLC17A5, DNAAF1, ENG, DST, PTRH2, MCCC1, FH, FAM58A, G6PC, WNK1, GFI1B, PEX2, TGFBR2, HPSE2, WDR34, CREBBP, GNE, LIPT1, GTPBP3, TRMT5, EPCAM, DYNC2H1, TRPV3, MYOT, SCN4A, SOX2, APOA1, B9D2, NDUFAF3, NALCN, PHKA2, CHMP1A, AR, LONP1, NDUFA1, CD79A, THRA, BUB1B, IGF2R, SKIV2L, ASAH1, MT-ND6, TAF6, ALG11, PIK3CD, MT-CO2, AMER1, MARS2, ORC6, CD27, STT3A, IRAK3, KCNJ1, TALDO1, JAK2, GPC6, ANK1, SUCLA2, AAAS, VPS33B, CNTN5, TGFB1, UBR1, HSPD1, STEAP3, ABCD4, ATP6V1B2, KRAS, TNNT2, ALAS2, SUCLG1, PSAP, KMT2A, FAH, DNMT3A, DYX1C1, SMC3, NDUFS7, MT-CO1, GATA1, BMP1, PPP1R15B, MEN1, ALDOA, AGL, CTNNB1, IL2RA, SERPINC1, SUFU, XYLT2, BCS1L, SMAD4, PIGY, NCF4, GNMT, CHST14, TMCO1, SLC4A1, CEP290, IGHM, GPIHBP1, SLC19A2, GDF2, NARS2, SLC6A3, NUP62, CHRNA1, TCTN1, FLVCR1, AKT1, RIPK4, INPPL1, LRPPRC, PRKCD, SLC5A1, UBE3A, ABCB4, HFE, COX15, PINK1, EZH2, GLI3, NSDHL, CTNS, PEX13, ARL6, HSPA9, ORC1, EFNB1, IL1RN, HAMP, NOD2, MCM6, MTM1, CDON, REEP1, POLA1, PIGN, SLC2A1, GIF, TRIP11, SPINK5, HNRNPK, SLC46A1, SLC12A1, SEPN1, UNC80, HGSNAT, PIGA, LAMA2, SEC23A, NONO, SRCAP, PEX12, THBS4, CHD8, SPG7, RPS26, DMPK, STAT3, NR4A2, HLA-B, NDUFS4, LIPE, BBS1, PIEZO1, FKRP, SALL4, JAK3, RAB40AL, BDNF, ERCC6, GLRA1, CTCF, ACVRL1, POMK, FANCL, EGFR, ATXN3, ATP7A, SARS2, FMR1, POLR3B, PDSS2, PNPLA2, EXOC8, ARSB, EPM2A, ACTG2, HADHB, SKI, PEX14, GNPTAB, PARK7, TREX1, APOB, COQ9, TNFRSF13B, MMP1, MAP2K2, MKS1, VPS11, ACTB, SEMA3E, RPS7, PSEN1, DGUOK, SNRPN, B3GLCT, COL11A2, PTDSS1, ASCC1, NPC1, TSR2, ITGA2B, NDUFB3, G6PC3, FGA, MYH7, HADH, SLC25A1, IKBKAP, PTRF, COX8A, NEK8, DES, MT-CO3, PKHD1, POLE, COG6, PRF1, CDC73, POR, BBS2, FGG, DLL4, NRAS, CD79B, RBCK1, SLC9A3, IL2RG, CUL7, KIF1A, OCRL, FIG4, SHOC2, COQ7, DOK7, DNAI2, SCN11A, ABCC6, SERPINA1, CYP7B1, NME1, SLC34A3, FGB, PKLR, MYCN, SLC19A3, TTC37, SMAD9, EDNRA, CD3E, POLG, SCARB2, SLC29A3, AFF4, ZHX2, EXOSC8, FSHR, EARS2, MYOM1, RBM10, SC5D, RHAG, LRP5, ROR2, TCIRG1, MPZ, KDR, FAT4, CASR, ACTA2, IL7R, AICDA, RARB, GPHN, NUBPL, BRAF, SLC26A3, CUBN, AMN, NCF1, STIM1, ADAM17, ALPL, SLC2A2, FOLR1, PHKB, BLNK, HBG2, DNAJB6, SLC30A10, CBS, F12, SNIP1, CYP27B1, MRPS16, GMPPB, PEX11B, NFKB2, MASP1, TMEM70, BMP2, HRAS, NDN, SMC1A, PLEC, TXNL4A, PCSK1, NPHP3, ASCL1, NAGLU, ATXN1, AXIN2, FRAS1, HLA-DQB1, COG4, SLC16A2, LRP2, IKBKB, SCNN1G, AQP2, SNCA, NDUFAF6, PSTPIP1, PSMB8, DGAT1, HK1, TJP2, FREM2, QDPR, KCNH1, NME8, TUBB4A, KIT, MT-ND3, SCYL1, AGPAT2, NDUFV1, OTC, VDR, NBAS, SLC26A2, CHRNE, VPS45, C21orf59, GAA, NODAL, KRT8, ASXL1, PRKCSH, CLDN1, SLC39A4, PEPD, TRAF3IP1, GATA6, COLQ, KMT2D, DVL1, EIF2AK3, STAT1, ZFYVE26, SPTB, ZBTB24, PARK2, SCO1, NOTCH2, PLG, TP53, NDUFB9, LRP4, TRIM37, IL6, SHMT1, OFD1, PCNA, NDUFS6, APC, KIF1BP, VPS35, PEX16, GDNF, TMEM67, SLC10A2, ADA, EPOR, SMAD3, ALDH18A1, HSPG2, TNF, EXT2, ITGA6, C10orf2, GPD1, PDX1, LMNA, C3AR1, F2, TNFRSF1A, BCKDHB, CD3D, KCNJ10, CASP10, ATXN10, LCT, SALL1, IL10RB, RAD21, SCNN1A, ATRX, FAS, SQSTM1, CENPF, INVS, PEX6, ABCD3, EFTUD2, NRXN1, CYP11B2, DPM2, NTF3, AGT, IGKC, LEP, PPP1R3A, UBQLN2, GALT, RECQL4, IRX5, EIF4A3, NEB, PIGC, STK11, CCDC115, ALG1, IL21R, CDKN1C, FBP1, PIK3CA, KCND3, ABCD1, ST3GAL5, BMPER, JAG1, HADHA, SERPING1, NAA10, TBK1, COL2A1, ACOX1, ARNT2, ACTA1, NECAP1, GRIP1, ACADM, SMARCA4, ICOS, TWIST2, SLC2A10, COQ4, ABCB11, GPC3, SMARCE1, IGF2, FERMT3, NOS3, DCLRE1C, CCND1, MAPT, CAD, IL21, MLH1, PODXL, NPC2, SDHC, MOGS, GFM1, ABCA1, NFKBIA, PLOD1, ARG1, NDUFAF4, LMBRD1, SNCAIP, MET, POGZ, TTC8, SLC25A13, GLIS3, PFKM, NDUFS2, ABCG8, DHODH, CLCN1, BBS7, TBX3, GUCY2C, SLC7A7, GSC, GP9, MPC1, COX14, RPS6KA3, WAS, ERCC8, AIRE, ACD, PAM16, TMEM237, COL7A1, FCGR2A, RPSA, ITGB3, ACAT1, SMPD1, KCNN4, PEX1, SLC22A5, SLC25A19, SHANK3, HLA-DRB1, TMPRSS6, CNTN1, TXN2, SLC6A8, HNF4A, RAPSN, KIF1B, FKBP14, PPOX, STT3B, CYBA, FZD6, CYBB, COQ2, KLF1, MNX1, FBN1, MT-ND1, USP9X, SEMA3D, PTS, FECH, SCN1A, ORC4, POLD1, VANGL1, TINF2, RAD51C, PTEN, FGFR3, MTTP, CFH, CFTR, BTK, CHRND, SH2D1A, AHI1, SSR4, PGM1, ATXN2, SLC40A1, SMARCB1, CD40LG, HDAC8, PRICKLE2, ATP8B1, MT-ND4, B9D1, BCL10, PRNP, AHNAK, TNFAIP3, TBP, AP3B1, ITGB4, DKC1, SAMHD1, TCF4, HYLS1, FADD, LRBA, UQCRB, VAMP1, PDE10A, GBA, CA12, ABCC9, FTH1, HPCA, INS, STX11, CLASP1, PIGV, BBS9, TCN2, TMEM165, EDNRB, CISD2, ADNP, OCLN, ZAP70, CLDN16, ACVR1B, SLC12A3, TMEM199, HMGCS2, DHFR, ALG13, SLC37A4, CFC1, NEU1, PIGM, CD96, COL1A1, DNAJC19, CHRNG, SLC52A3, PABPN1, NDUFA11, PIGT, DNM2, CDT1, SLCO1B3, SLC1A3, RNASEH1, NBN, SLCO1B1, PPARG, COL5A1, PRKRA, BBS4, HIBCH, DSG1, SLC35A2, SOX10, KIAA0196, GFRA1, COX6B1, PEX3, AARS, CASP8, HNF1B, MPV17, IL10RA, ALG2, COX20, SERPINH1, EFEMP2, MEFV, AFG3L2, COL13A1, XYLT1, CECR1, PIGO, BBS5, CPT1A, DLD, CPT2, CPS1, HLA-DQA1, ATP6V0A2, MATR3, RRM2B, PTCH1, DVL3, TAF1, FBLN5, ZNF592, PTPRC, FLCN, VHL, PACS1, LYST, SCNN1B, CDAN1, GP1BB, CPOX, LMNB1, CD3G, TPM3, EPHX1, SDHB, TARDBP, LZTFL1, AKT2, SPG21, ANTXR2, BCKDHA, MEGF10, KRT18, ABCC2, MRPL44, ASS1, TPM2, AVPR2, WNT3, NKX3-2, NCF2, EP300, SLC25A15, AP1S1, MBTPS2, GCDH, NR3C2, CLPB, NOTCH3, SF3B4, ABCG5, ITK, ACADVL, TRIM32, CYP24A1, DTNBP1, SEC23B, SPATA5, ABCC8, JAM3, PITX2, PAX8, LARS, TTR, PLA2G6, KCNJ11, CACNA1G, PQBP1, GJA1, INPP5E, SLC9A6, RPS28, MECP2, MVK, TGFB3, NLRC4, CTLA4, RAB3GAP2, MTUS1, CEP164, DPM1, TSC2, FOXP3, FGF20, FOXG1, IFT122, SETD5, GALE, NDUFS1, MRPL3, CARD11, MED12, GYS1, SEC63, FASLG, PHOX2B, MED17, PLAU, STRA6, MCM4, ITCH, ATP7B, DNMT3B, MUSK, LRIG2, NKX2-5, CHRM3, DDOST, AXIN1, PNPT1, LYRM4, GUSB, SUMF1, CYC1, SCO2, LCK, GUCY2D, FLNA, DNAJC13, BIN1, RAB23, HCCS, SLC25A20, HSD17B4, DHCR7, CEP41, PYGL, GLB1, IER3IP1, ESR1, POLR3A, INSR, NOTCH1, BLVRA, SCN9A, NDUFV2, CEP57, MSH2, FGFR2, CNTNAP1, PLCG2, NBEAL2, SLC16A1, MUT, MARS, RPL11, GCH1, PDGFRA, L1CAM, MT-ND5, RET, PEX19, GALNT14, PC, POLR2F, EXOSC3, MPDU1, FAT3, SAR1B, MYH11, ADCY6, NDUFS3, NHP2, CR2, PIK3R1, HSD3B7, MTRR, COX10, RYR1, HFE2

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

PEX1, PEX14, MLYCD, PEX26, ACOX1, HSD17B4, PEX6, PEX12, PEX11B, AGT, HADHB, AMACR, VPS35, NSDHL, CTNNB1, BAAT, PEX3, MPV17, PEX19, ABCD1, PEX16, PEX13, ABCD4, JAG1, SMAD3, ABCD3, NDUFS2, TRIM37, DHFR, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ADAMS-OLIVER SYNDROME 5, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), KAPPA LIGHT CHAIN DEFICIENCY, NIEMANN-PICK DISEASE, TYPE A, GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS IH/S, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OMODYSPLASIA 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS, MPS-III-A, TRANSCOBALAMIN II DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CORNELIA DE LANGE SYNDROME 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS II, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, FARBER LIPOGRANULOMATOSIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS IVA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, METACHROMATIC LEUKODYSTROPHY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KRABBE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, GAUCHER DISEASE, TYPE II, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, GAUCHER DISEASE, TYPE IIIC, COMBINED SAP DEFICIENCY, GAUCHER DISEASE, TYPE I, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, INTRINSIC FACTOR DEFICIENCY

ACTA1, FASLG, GPC3, GLB1, GIF, SMPD1, APOA1, COL1A1, RAD21, GNS, NOS3, HLA-DRB1, NAGLU, GUSB, IDS, TGFB1, ASAH1, SCARB2, BMP2, NOTCH1, GALC, GPC6, IDUA, MRPL3, DVL1, GBA, IL6, GLA, STAT1, LRP2, SGSH, CNTN5, TCN2, GALNS, EGFR, ARSA, PSAP, HSPG2, NEU1, ARSB, INS, CUBN, IGKC

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, LYSINURIC PROTEIN INTOLERANCE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, 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, HYPOPHOSPHATASIA, INFANTILE, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, BILE ACID MALABSORPTION, PRIMARY, RENAL CYSTS AND DIABETES SYNDROME, GAUCHER DISEASE, TYPE IIIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, 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, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, WRINKLY SKIN SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CHYLOMICRON RETENTION DISEASE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, COMBINED SAP DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MUCOLIPIDOSIS IV, GAUCHER DISEASE, TYPE I, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, POLYCYTHEMIA VERA, SOMATIC, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, GLYCOGEN STORAGE DISEASE II, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?DYSTONIA, JUVENILE-ONSET, LEUKODYSTROPHY, HYPOMYELINATING, 12, GAUCHER DISEASE, TYPE III, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, GAUCHER DISEASE, TYPE II, COLE DISEASE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, PROTEUS SYNDROME, SOMATIC

NCF1, ACTB, TCIRG1, ALPL, AGL, SMAD3, CTNNB1, GAA, APOA1, CASP8, PTPRC, SMAD4, LMBRD1, MCOLN1, PSMB8, PACS1, GNAS, TNF, IGF2R, SQSTM1, SLC29A3, HLA-DRB1, LMNB1, IL6, AP3B1, INS, AGT, AP1S1, IGKC, STAT1, ZFYVE26, SCARB2, VPS11, DNAJC13, INSR, FOXP3, AHNAK, PLG, TMEM165, AKT1, APOB, GTPBP3, SNCA, FGA, SLC17A5, HLA-DQA1, CCND1, PSEN1, GBA, IL2RA, MYOM1, ATP6V0A2, NEU1, HLA-DQB1, VPS33B, LRP2, HNF1B, DNM2, SLC10A2, CTNS, TRIM32, FADD, HRAS, EGFR, PSAP, CDC73, ATP6V1B2, KRAS, FGG, CUBN, SLC7A7, NPC1, TBK1, HSPG2, ENPP1, STAT3, VPS35, BTK, HGSNAT, SPATA5, JAK2, DYNC2H1, SCYL1, SAR1B, PIK3R1

ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 3B, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PEROXISOME BIOGENESIS DISORDER 14B, LOEYS-DIETZ SYNDROME 3, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4B, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE

PEX12, PEX16, PEX1, PEX14, HSD17B4, PEX11B, PEX3, SMAD3, PEX13, PEX2, ACOX1, MAP2K2, IKBKAP, ABCD1, ABCD4, PEX19, PEX6, ABCD3

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LOWE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PERIODIC FEVER, FAMILIAL, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?IMMUNODEFICIENCY 22, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, RUBINSTEIN-TAYBI SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LOEYS-DIETZ SYNDROME 3, YUNIS-VARON SYNDROME, OCCIPITAL HORN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 12, {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, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DENT DISEASE 2, PROTEUS SYNDROME, SOMATIC, CHOROID PLEXUS PAPILLOMA

LCK, CASP8, SMAD4, VPS11, AR, HLA-DRB1, CFTR, ATP7A, TNF, SLC9A6, HLA-B, HRAS, AKT1, GTPBP3, IL6, TP53, CLASP1, STX11, TNFRSF1A, OCRL, SMAD3, CREBBP, FIG4, KDR, TMEM165, ACVR1B

AGAMMAGLOBULINEMIA 1, BASAL CELL NEVUS SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CRANIOFRONTONASAL DYSPLASIA, MULTIPLE SULFATASE DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SPHEROCYTOSIS, TYPE 4, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, 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, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, POLYCYTHEMIA VERA, SOMATIC, NEPHRONOPHTHISIS 18, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, 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, MEIER-GORLIN SYNDROME 1, CORNELIA DE LANGE SYNDROME 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, MUCOLIPIDOSIS II ALPHA/BETA, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, MULTIPLE ENDOCRINE NEOPLASIA 1, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, 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, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LOWE SYNDROME, INSOMNIA, FATAL FAMILIAL, ADAMS-OLIVER SYNDROME 5, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, CORPUS CALLOSUM, PARTIAL AGENESIS OF, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, BECKWITH-WIEDEMANN SYNDROME, MEIER-GORLIN SYNDROME 5, NIEMANN-PICK DISEASE TYPE C1, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LOEYS-DIETZ SYNDROME 3, FEINGOLD SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, GALACTOSEMIA, SPHEROCYTOSIS, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, ?HEMOCHROMATOSIS, TYPE 5, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ACHONDROGENESIS, TYPE IA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ALAGILLE SYNDROME, MARTSOLF SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, FLOATING-HARBOR SYNDROME, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, COFFIN-SIRIS SYNDROME 3, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CHYLOMICRON RETENTION DISEASE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, MECKEL SYNDROME 4, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, ALAGILLE SYNDROME 2, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, 3-M SYNDROME 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ROBERTS SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, GM1-GANGLIOSIDOSIS, TYPE I, GLYCOGEN STORAGE DISEASE II, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, ?DYSTONIA, JUVENILE-ONSET, SPINOCEREBELLAR ATAXIA 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CRYOHYDROCYTOSIS, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, HEMOCHROMATOSIS, TYPE 4, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, OSTEOGENESIS IMPERFECTA, TYPE XIII, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, GLYCOGEN STORAGE DISEASE VII, CRANIOLENTICULOSUTURAL DYSPLASIA, COMMON VARIABLE IMMUNODEFICIENCY 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, FANCONI ANEMIA, COMPLEMENTATION GROUP L, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, CORNELIA DE LANGE SYNDROME 2, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, AGAMMAGLOBULINEMIA 6, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, ABETALIPOPROTEINEMIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OPITZ-KAVEGGIA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HOLOPROSENCEPHALY 11, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, WOLCOTT-RALLISON SYNDROME, HAJDU-CHENEY SYNDROME, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, GLANZMANN THROMBASTHENIA, DIABETES INSIPIDUS, NEPHROGENIC, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, OCCIPITAL HORN SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, RUBINSTEIN-TAYBI SYNDROME 2, OHDO SYNDROME, X-LINKED, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, KABUKI SYNDROME 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DENT DISEASE 2, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, GFI1B, TRIM32, CYBA, TREX1, EDNRA, APOB, LMNA, COL1A1, PKD1, SCNN1A, ACTB, GNAS, DNM2, PSEN1, EFTUD2, FTL, MSH6, MLH1, AGT, IGKC, PPARG, LEP, LRRK2, PIGT, HIBCH, COG6, CDC6, BMP1, SOX10, GIF, STK11, PIK3CD, LRBA, IGHM, ESCO2, PSTPIP1, CLASP1, TRIP11, PNPLA2, SUFU, GNPTAB, DES, POLE, NPC1, EFEMP2, CDC73, ERCC2, JAG1, OCRL, SMAD4, TBK1, CD79B, COL2A1, IL2RG, CUL7, FGD1, NUBPL, SMARCB1, ACTA1, SMARCA4, APOA1, FSHR, MAP2K2, EGFR, SERPINA1, FAM134B, CREBBP, NME1, IGF2, ZAP70, NOS3, THRA, LMNB1, FKRP, MAPT, CAD, RYR1, FGFR1, SQSTM1, CD3E, MOGS, AKT2, CPOX, GALT, ABCA1, NFKBIA, GTPBP3, ESR1, GJA1, GAA, CCND1, MET, JAK2, CD40LG, VPS33B, EXOC8, AVPR2, GLIS3, MEN1, CNTN5, TAF1, HSPD1, DYNC2H1, TNFRSF1A, ALPL, ACTA2, TNNT2, SCYL1, GSC, STX11, ATP8B1, STAT3, PTPRC, TRAPPC11, TMEM165, PITX2, ACVR1B, GATA1, LCK, NCF1, PFKM, GLB1, DDHD2, VHL, SLC35A2, IL2RA, HNF1B, SERPINH1, CTNNB1, EP300, RAB3GAP2, MYCN, SCNN1B, SLC4A1, CEP290, HLA-DRB1, KRAS, FLNA, CASR, AP1S1, NFKB2, MTUS1, KIF1B, RAPSN, SLC40A1, BMP2, FOXP3, VPS35, NDN, SMC1A, BIN1, INPPL1, VDR, CYBB, WNT5A, LRPPRC, ATXN1, TP53, UBE3A, LRP2, COG4, IKBKB, AXIN1, HNRNPK, EIF2AK3, AKT1, SNCA, CDKN1C, TTN, EFNB1, CUBN, MTTP, NEU1, BCL10, DDOST, BTK, ITGA6, KIT, CDON, SUMF1, SAR1B, LRP4, OTC, PCSK1, LRP5, DNAJC13, VPS45, KRT8, PRKCD, NDUFS1, HCCS, NOTCH1, ATXN2, SMC3, B3GAT3, SEC23A, PRNP, SRCAP, JAK3, TBP, CFTR, ATP7A, TGFB1, IER3IP1, STAT1, SPTB, ORC1, PCNA, PARK2, HLA-B, PKLR, PLG, FADD, CEP57, MED12, MSH2, FGFR2, MCM4, IL6, ZHX2, GLA, GATA6, L1CAM, INS, BDNF, FBN1, GPC3, KMT2D, CTLA4, KAT6A, HRAS, FTH1, FANCL, FASLG, AP3B1, OCLN, SMAD3, NOTCH2, HSPG2, TNF, EXT2, ITGB3, CEP83, KDR, HFE, ARSB, PIK3R1

ABETALIPOPROTEINEMIA, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, SPHEROCYTOSIS, TYPE 4, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), HAJDU-CHENEY SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PYRUVATE KINASE DEFICIENCY, ?DYSTONIA, JUVENILE-ONSET, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CRYOHYDROCYTOSIS, HYPOBETALIPOPROTEINEMIA, 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}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, HYPERPARATHYROIDISM, NEONATAL, KAPPA LIGHT CHAIN DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AR, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALAGILLE SYNDROME 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, PROTEUS SYNDROME, SOMATIC

NCF1, ACTB, CYBB, PLEC, TGFB1, PSEN1, CASR, TNF, IGKC, LEP, HLA-B, NOTCH2, AKT1, APOB, FKRP, LRP2, SLC4A1, SNCA, ARSB, AQP2, MTTP, ESR1, PKLR, INS

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, IMMUNODEFICIENCY 15, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, COCKAYNE SYNDROME, TYPE A, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE VI, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, GLASS SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NIJMEGEN BREAKAGE SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, WIEDEMANN-STEINER SYNDROME, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, COCKAYNE SYNDROME, TYPE B, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MEIER-GORLIN SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, DIAMOND-BLACKFAN ANEMIA 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, JOHANSON-BLIZZARD SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADAMS-OLIVER SYNDROME 5, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {AUTISM, SUSCEPTIBILITY TO, 18}, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, BECKWITH-WIEDEMANN SYNDROME, MEIER-GORLIN SYNDROME 5, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LACTASE PERSISTENCE/NONPERSISTENCE, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 8, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, PEUTZ-JEGHERS SYNDROME, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ROTHMUND-THOMSON SYNDROME, COFFIN-SIRIS SYNDROME 3, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, OTOPALATODIGITAL SYNDROME, TYPE II, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OPSISMODYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MENTAL RETARDATION, X-LINKED 98, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, JOUBERT SYNDROME 10, PANCREATIC AGENESIS 1, 3-M SYNDROME 1, WEAVER SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TRICHOHEPATOENTERIC SYNDROME 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?DYSTONIA, JUVENILE-ONSET, GLYCOGEN STORAGE DISEASE IXC, COMMON VARIABLE IMMUNODEFICIENCY 1, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, BALLER-GEROLD SYNDROME, CORNELIA DE LANGE SYNDROME 3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, {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, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, CORNELIA DE LANGE SYNDROME 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, ENCEPHALOPATHY, NEONATAL SEVERE, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, GLYCOGEN STORAGE DISEASE 0, MUSCLE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CLOVE SYNDROME, SOMATIC, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FAMILIAL MEDITERRANEAN FEVER, AD, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, OROFACIODIGITAL SYNDROME I, KARTAGENER SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, NOONAN SYNDROME 7, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DYSAUTONOMIA, FAMILIAL, CILIARY DYSKINESIA, PRIMARY, 20, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, PALLISTER-HALL SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, RUBINSTEIN-TAYBI SYNDROME 2, ?MICROPHTHALMIA, SYNDROMIC 1, KABUKI SYNDROME 1, ?INFANTILE LIVER FAILURE SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, PEX14, CYBA, APOB, NCF1, BCKDHB, ORC1, ACTB, NDUFA11, PIGT, CAD, RPS7, FTL, NDUFA1, AGT, DBT, PCCB, MCM6, PPARG, CTNNB1, PPP1R3A, STT3B, DNAH14, DNAH5, RECQL4, DNAH11, EIF4A3, PIGC, STK11, NDUFS4, CHD8, ENG, DST, DPM2, ERCC6, SDHC, PPP1R15B, CDKN3, PIK3CA, NBN, POLE, NCF4, EFEMP2, CDC73, MEFV, DNAI1, DLD, TGFBR2, DNAI2, NAA10, CREBBP, HNF1B, PRKAG2, UQCRB, IKBKAP, CUL7, SF3B4, NONO, KMT2A, ACTA1, SHOC2, CHD7, KRAS, CASP8, EGFR, PHKA2, AR, PYGL, SQSTM1, CHAMP1, THRA, SMARCB1, CCDC114, TTC37, BUB1B, TPM3, TSEN2, ERCC2, CD3E, SDHB, TAF6, MECP2, PIK3CD, SUCLG1, BCKDHA, STT3A, SMARCE1, CCND1, NFKBIA, HLA-DRB1, EXOC8, KAT6B, MEN1, EP300, NDUFS2, TAF1, DYNC2H1, TNFRSF1A, GTPBP3, OCLN, CLPB, ABCD4, GPD1, FBXL4, PCNA, WAS, NUP62, POLA1, BRAF, SLC26A3, SMC3, NDUFS7, GATA1, PIGA, LARS, DIS3L2, NCF2, AGL, NDUFB3, KCNN4, PHKB, DNAH8, SMAD4, HNF4A, UBR1, GYS1, NFKB2, VHL, ASCC1, BCS1L, BMP2, POLR2F, AKT1, BIN1, DYRK1B, VDR, CYBB, NDUFS1, CFTR, ATXN1, TP53, GFI1B, UBE3A, FASLG, NDUFS6, MED17, EPOR, MT-ND1, AXIN1, EZH2, GLI3, POLD1, CDC6, MCM4, DNAH1, CDKN1C, KAT6A, PTEN, MUSK, ERCC8, KIAA2022, DDOST, KDM6A, PNPT1, RBCK1, MT-ND3, POLR3B, NDUFV1, PFKM, NDUFS3, ATXN2, FLNA, POLR3A, HDAC8, HNRNPK, NDUFV2, INPPL1, NOTCH1, MT-ND4, CASP10, PHKG2, CYC1, LMNA, TBP, NDUFB9, TGFB1, STAT1, STAT3, NHLRC1, PARK2, INSR, NDUFAF1, NOS3, PLG, FADD, MSH2, ITCH, DPM1, MARS, RPL11, OFD1, SALL1, INS, MT-ND5, CLASP1, KMT2D, ABCC8, HRAS, POLG, ATXN3, DNMT3B, AGPAT2, SMAD3, IKBKB, PEX2, TNF, ESR1, PDX1, KDR, SATB2, PIK3R1

CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, OTOPALATODIGITAL SYNDROME, TYPE II, SELECTIVE T-CELL DEFECT, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, HERMANSKY-PUDLAK SYNDROME 1, ACRODERMATITIS ENTEROPATHICA, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CORNELIA DE LANGE SYNDROME 5, SICKLE CELL ANEMIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, ?REYNOLDS SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GLYCOGEN STORAGE DISEASE IA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, HEMOCHROMATOSIS, TYPE 4, AGAMMAGLOBULINEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, COWDEN SYNDROME 7, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, BARDET-BIEDL SYNDROME 17, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, MECONIUM ILEUS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LEBER CONGENITAL AMAUROSIS 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, HMG-COA SYNTHASE-2 DEFICIENCY, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, NOONAN SYNDROME 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, AGAMMAGLOBULINEMIA 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, COLE DISEASE, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, MELNICK-NEEDLES SYNDROME, BARTTER SYNDROME, TYPE 1, GLANZMANN THROMBASTHENIA, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, STORMORKEN SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SHPRINTZEN-GOLDBERG SYNDROME, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, ULNAR-MAMMARY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BILE ACID MALABSORPTION, PRIMARY, PERIODIC FEVER, FAMILIAL, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, HEMOCHROMATOSIS, TYPE 2B, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, OCCIPITAL HORN SYNDROME, IMMUNODEFICIENCY 19, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, PSEUDOHYPOALDOSTERONISM, TYPE I, STRIATONIGRAL DEGENERATION, INFANTILE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, ALPHA-METHYLACETOACETIC ACIDURIA, OPSISMODYSPLASIA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, WHITE-SUTTON SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, COACH SYNDROME, LACTASE DEFICIENCY, CONGENITAL, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, SPINOCEREBELLAR ATAXIA 1, FRAGILE X TREMOR/ATAXIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, MECKEL SYNDROME 3, RENAL TUBULAR ACIDOSIS, DISTAL, AR, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, ?IMMUNODEFICIENCY 22, CORNELIA DE LANGE SYNDROME 2, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, ?DIARRHEA 7, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, HYALINE FIBROMATOSIS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GELEOPHYSIC DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, GALLBLADDER DISEASE 1, GITELMAN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, RETT SYNDROME, CONGENITAL VARIANT, 3MC SYNDROME 1, HYPOBETALIPOPROTEINEMIA, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, JOUBERT SYNDROME 6, SENIOR-LOKEN SYNDROME 9, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, PCWH SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPHEROCYTOSIS, TYPE 4, DIARRHEA 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SITOSTEROLEMIA, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, MECKEL SYNDROME 10, GREENBERG SKELETAL DYSPLASIA, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 3, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, CHYLOMICRON RETENTION DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, 3-M SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, WOLFRAM SYNDROME 2, KAPPA LIGHT CHAIN DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, CRYOHYDROCYTOSIS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ALAGILLE SYNDROME 2, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, PARAMYOTONIA CONGENITA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLOPROSENCEPHALY 11, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SMED STRUDWICK TYPE, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, RUBINSTEIN-TAYBI SYNDROME 2, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, HYPERLIPOPROTEINEMIA, TYPE 1D, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ADAMS-OLIVER SYNDROME 6, LYSINURIC PROTEIN INTOLERANCE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, ?IMMUNODEFICIENCY 37, TRANSALDOLASE DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CORNELIA DE LANGE SYNDROME 3, LYMPHEDEMA, HEREDITARY, III, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, STROMME SYNDROME, PETERS-PLUS SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RUBINSTEIN-TAYBI SYNDROME, TRIGONOCEPHALY 1, SMITH-LEMLI-OPITZ SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, BARDET-BIEDL SYNDROME 8, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, 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, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?MECKEL SYNDROME 9, MULTIPLE ENDOCRINE NEOPLASIA IIA, GLUCOSE/GALACTOSE MALABSORPTION, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, WEAVER SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LATHOSTEROLOSIS, CHILD SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ABETALIPOPROTEINEMIA, RENPENNING SYNDROME, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, FOLATE MALABSORPTION, HEREDITARY, DIABETES INSIPIDUS, NEPHROGENIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GM1-GANGLIOSIDOSIS, TYPE III, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MECKEL SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, DIAMOND-BLACKFAN ANEMIA 7, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE

TSC2, HBB, FGFR1, PKD1, EPCAM, GP1BA, LBR, GNAS, KRIT1, ENPP1, LRRK2, ALG3, CDC6, LCT, DST, PIGO, SEC23A, G6PC, TTC8, POR, TGFBR2, CREBBP, AQP2, SCN4A, APOA1, FSHR, ABCD3, AR, CD79A, SHMT1, BUB1B, BBS9, SKIV2L, KCNJ10, LEP, ALG11, PIK3CD, STT3A, SMARCE1, CCND1, JAK2, SUCLA2, CNTN5, HSPD1, ABCD4, SMC3, ACVR1B, MEN1, ALDOA, AGL, CTNNB1, SSR4, HNF1B, XYLT2, DVL3, SCNN1B, TMCO1, CEP290, IGHM, SLC2A1, GDF2, PQBP1, SLC6A3, NUP62, CHRNA1, AKT1, INPPL1, LRPPRC, HDAC8, SLC5A1, UBE3A, ABCB4, LIPE, BBS7, EZH2, GLI3, NSDHL, ARL6, EFNB1, HAMP, NOD2, REEP1, PIGA, GPIHBP1, GIF, MASP1, HNRNPK, SLC46A1, SEPN1, PIGN, SPG7, DMPK, MT-CO2, HLA-B, ALG1, PTPRC, BDNF, ADAM17, CTNS, POMK, LRP2, DGAT1, POLR3B, CYP7B1, HRAS, DNM2, PARK7, TREX1, APOB, MMP1, LZTFL1, ACTB, PSEN1, B3GLCT, PTDSS1, ASCC1, ITGA2B, G6PC3, BBS1, PODXL, DES, PKHD1, POLE, PRF1, BBS2, FGG, DLL4, SLC9A3, CUL7, SF3B4, SHOC2, ABCC6, ADCY6, GUCY2D, SLC34A3, NOTCH1, SMAD9, ITGB4, EDNRA, SCARB2, EXOSC8, B9D2, EARS2, MYOM1, VPS33B, TCIRG1, ACTA2, PIGM, STAT3, HMGCS2, BRAF, SLC26A3, CUBN, AMN, NCF1, STIM1, ALPL, SLC2A2, FOLR1, CBS, SC5D, BMP2, SPINK5, NDN, SMC1A, VDR, DVL1, ATXN1, TP53, EGFR, IKBKB, SCNN1G, SNCA, PSTPIP1, HK1, ITGA6, KIT, SCYL1, AGPAT2, CHRNE, VPS45, CYBB, PTS, SLC9A6, FOXG1, CLDN1, SLC39A4, GATA6, CARD11, EIF2AK3, STAT1, NOTCH2, PLG, NDUFB9, TINF2, IL6, PCNA, PEX16, TMEM67, SLC10A2, ADA, SMAD3, HSPG2, TNF, ESR1, LMNA, F2, CD3D, RAD21, FAS, CENPF, ANK1, CYBA, NTF3, AGT, IGKC, EIF4A3, PIGC, STK11, FMR1, SLC37A4, KRT8, PNPLA2, PIK3CA, NPC1, TBK1, COL2A1, ARNT2, ACTA1, NECAP1, GRIP1, PLEC, CASP8, QDPR, IGF2, NOS3, CAD, SHANK3, SCNN1A, MOGS, ABCA1, PLOD1, MET, POGZ, TALDO1, PFKM, ABCG8, FKBP14, GUCY2C, GSC, CLDN16, RPS6KA3, WAS, INS, CDON, ITGB3, ACAT1, KCNN4, SLC22A5, HLA-DRB1, CNTN1, TGFB1, VHL, BCS1L, RAPSN, TNFRSF1A, FZD6, KLF1, FBN1, DPM2, PTEN, MTTP, CFTR, SOX10, AHI1, SERPINC1, PGM1, SLC40A1, PRKCD, PRICKLE2, ATP8B1, DPM1, B9D1, BCL10, HPCA, TBP, ATP7A, ABCG5, FADD, PDE10A, ZHX2, ACD, PIGV, EDNRB, CISD2, OCLN, ZAP70, SLC12A1, SLC12A3, TMEM199, KIF1BP, ALG13, COL1A1, PIGT, SLCO1B3, TBX3, SLCO1B1, PPARG, BBS4, DSG1, TRAF3IP1, BTK, CLASP1, ALG2, TRIM32, XYLT1, SMAD4, BBS5, ABCC2, PTCH1, PIGY, KRAS, LYST, LMNB1, RYR1, EPHX1, ANTXR2, MEGF10, KRT18, CNTNAP1, TJP2, AVPR2, EP300, SLC4A1, AP1S1, NOTCH3, NR3C2, SLC7A7, SEC23B, JAM3, BIN1, TXN2, TTR, GPC3, KCNJ11, CACNA1G, GJA1, HNF4A, CASR, FOXP3, GALE, MRPL3, DTNBP1, SEC63, PIEZO1, PLAU, ARSB, ACADM, CHRM3, DDOST, SUMF1, LCK, NME1, FLNA, POLR3A, DHCR7, PRNP, GLB1, IER3IP1, EXT2, INSR, SERPINH1, CEP57, HSD3B7, CPT1A, RPL11, PTRF, L1CAM, RET, PEX19, GALNT14, MTRR, POLR2F, FASLG, MPDU1, SAR1B, MYH11, KDR, HFE, PIK3R1