SKIN NAILS AND HAIR

LYSYL HYDROXYLASE 3 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ATROPHODERMA VERMICULATUM, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, BRACHYDACTYLY, TYPE A1, D, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, NICOLAIDES-BARAITSER SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPHEROCYTOSIS, TYPE 4, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, MYOTONIC DYSTROPHY 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, WAARDENBURG SYNDROME, TYPE 4A, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MULTIPLE SULFATASE DEFICIENCY, MELNICK-NEEDLES SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), EVEN-PLUS SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, SADDAN, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ACNE INVERSA, FAMILIAL, 2, LEOPARD SYNDROME 3, LYMPHEDEMA, HEREDITARY, III, PERIODONTITIS 1, JUVENILE, HYPOPHOSPHATASIA, INFANTILE, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, GLUCOCORTICOID DEFICIENCY 2, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, MULTIPLE SYNOSTOSES SYNDROME 1, STORMORKEN SYNDROME, 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, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ESTROGEN RESISTANCE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, IMMUNODEFICIENCY 43, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, VON WILLEBRAND DISEASE, TYPE 1, ACNE INVERSA, FAMILIAL, 3, NEUROFIBROMATOSIS, FAMILIAL SPINAL, HAIM-MUNK SYNDROME, INSOMNIA, FATAL FAMILIAL, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, MENKES DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NOONAN SYNDROME 7, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, MEND SYNDROME, OCCIPITAL HORN SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CUTIS LAXA, AD, ICHTHYOSIS, X-LINKED, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, OCULOECTODERMAL SYNDROME, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, RUBINSTEIN-TAYBI SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PYRUVATE KINASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, LOEYS-DIETZ SYNDROME 3, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, NAXOS DISEASE, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, ALAGILLE SYNDROME, BRUCK SYNDROME 2, YUNIS-VARON SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, {MELANOMA, CUTANEOUS MALIGNANT, 3}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, BARAITSER-WINTER SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, SMITH-LEMLI-OPITZ SYNDROME, ROBINOW SYNDROME, DONNAI-BARROW SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, WAARDENBURG SYNDROME, TYPE 2A, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, KAHRIZI SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HAILEY-HAILEY DISEASE, CRIGLER-NAJJAR SYNDROME, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, ARTHROGRYPOSIS, DISTAL, TYPE 8, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CORNELIA DE LANGE SYNDROME 4, ATAXIA-TELANGIECTASIA, ACNE INVERSA, FAMILIAL, 1, OTOPALATODIGITAL SYNDROME, TYPE I, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, WIEDEMANN-STEINER SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, NIEMANN-PICK DISEASE, TYPE A, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, HERMANSKY-PUDLAK SYNDROME 9, MUENKE SYNDROME, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, IMMUNODEFICIENCY 10, MYOTONIC DYSTROPHY 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, PAPILLON-LEFEVRE SYNDROME, TANGIER DISEASE, CHILD SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, RITSCHER-SCHINZEL SYNDROME 1, DARIER DISEASE, ?SPINOCEREBELLAR ATAXIA 34, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, 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, HYPOCHONDROPLASIA, BLEEDING DISORDER, PLATELET-TYPE, 17, LOEYS-DIETZ SYNDROME 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?PRUNE BELLY SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, GLYCOGEN STORAGE DISEASE XI, PSEUDOHYPOPARATHYROIDISM IA, KOSAKI OVERGROWTH SYNDROME, ASPARTYLGLUCOSAMINURIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, 46XY SEX REVERSAL 6, DOWLING-DEGOS DISEASE 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, ERYTHROCYTOSIS, FAMILIAL, 2, HAJDU-CHENEY SYNDROME, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HAY-WELLS SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ADULT SYNDROME, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, TIETZ ALBINISM-DEAFNESS SYNDROME, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, WISKOTT-ALDRICH SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, TRICHOHEPATOENTERIC SYNDROME 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, NETHERTON SYNDROME, PARIETAL FORAMINA 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, SJOGREN-LARSSON SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, ACROKERATOSIS VERRUCIFORMIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

PEX5, TSC2, PEX14, CAV1, NF1, WNT5A, NCF1, COL1A1, CNBP, RAD21, ACTB, LBR, GNAS, IKBKG, COL1A2, ELOVL4, TAP1, FTL, F2, MYO5A, PPARG, MOGS, CDK5, ALG3, PRKAR1A, NSDHL, APOB, BTK, B2M, KISS1R, PLG, CDKN2A, NOG, DST, KIF1B, SLC37A4, RAB7A, PNPLA2, SEC23A, MMP2, UGT1A4, ARSE, BLOC1S6, RPS19, GFI1B, ATL1, MITF, SMAD4, CREBBP, LRP1, ECM1, PRKACG, RBPJ, KIF1A, CYB5R3, FIG4, SMARCB1, PCNA, SMARCA2, SRD5A3, GRIP1, NR0B1, KRAS, APOA1, CBL, MAP2K2, EGFR, LZTR1, PKLR, GLUL, LMNB1, SMPD1, CIITA, SKIV2L, PLOD3, CHRM3, LEP, TBXA2R, ATP2A2, MSMO1, ABCA1, JAK2, MSX2, ESR1, DSP, NCSTN, NR1I3, PSEN1, IFNG, MRAP, ATP2C1, JUP, MEN1, DSE, SLC4A1, TNFRSF1A, TMEM173, ALPL, ARSB, TSHR, STS, RBP4, MYH3, FGF23, PLOD2, ATP8B1, TP63, KMT2A, PTPRC, PSENEN, SMC3, ADAMTS18, PLIN1, LCK, MAN1B1, STIM1, TGFBR1, DDX3X, GJA1, TGFB2, CTNNB1, ADAR, LDHA, VWF, CBS, MC2R, APOA2, POMP, VHL, ALDH3A2, COL4A1, ACVR1, BMP2, FOXP3, EDNRB, MTOR, AKT1, PLEC, TAPBP, VDR, CYBB, ASCL1, NAGLU, WAS, LDLR, UBE3A, HLA-C, PIEZO1, LRP2, NOTCH2, ELN, ATL3, JAG1, PSTPIP1, HSPA9, EFNB1, PTEN, FGFR3, SPINK5, SNAP29, G6PC3, ITGA6, STAT3, SUMF1, PFKM, DDX41, DPM1, FLNA, NGF, PRKCD, PIGC, HNRNPK, IRF6, PIGA, DHCR7, PRNP, ABCB6, NR5A1, PTPN11, ATM, ATP7A, AP3B1, BMPR1B, DMPK, STAT1, NEB, MAP3K1, CACNA1C, INSR, EBP, HLA-B, NOTCH1, KIAA0196, SOS1, PDGFRB, NDUFA2, CIDEC, BRAF, CTSC, CPOX, PTRF, PCSK9, BDNF, RET, AGA, MTRR, HRAS, PEX16, FASLG, CDK4, POFUT1, MPDU1, GNRH1, AGPAT2, SMAD3, ALB, HSPG2, EXT2, ITGB3, TGFBR2, KL, UGT1A1, HFE, SPTLC1, PIK3R1

ATROPHODERMA VERMICULATUM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, GRISCELLI SYNDROME, TYPE 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ANDROGEN INSENSITIVITY, SHORT SYNDROME, ACNE INVERSA, FAMILIAL, 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, GRISCELLI SYNDROME, TYPE 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, [SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN], ALBINISM, OCULOCUTANEOUS, TYPE VI, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, ZIMMERMANN-LABAND SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, ZIMMERMANN-LABAND SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, WISKOTT-ALDRICH SYNDROME, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, WAARDENBURG SYNDROME, TYPE 1, ALBINISM, OCULOCUTANEOUS, TYPE III, EPIDERMAL NEVUS, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, WAARDENBURG SYNDROME, TYPE 3, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PROTEUS SYNDROME, SOMATIC

CAV1, CTNNB1, PAX3, AR, ITGB3, ATP6V1B2, SPTLC1, LEP, PRKAR1A, AKT1, MMP2, SLC24A5, CBL, NCSTN, SLC2A1, RAB7A, TYR, SOS1, HRAS, EGFR, RAB27A, MYH11, LRP1, WAS, TYRP1, MYO5A, PIK3R1

LOEYS-DIETZ SYNDROME 1, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, NON-IMMUNE HYDROPS FETALIS, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, FRASER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OCULODENTODIGITAL DYSPLASIA, 46XY SEX REVERSAL 6, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, WAARDENBURG SYNDROME, TYPE 3, SHORT SYNDROME, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, GRISCELLI SYNDROME, TYPE 2, TUBEROUS SCLEROSIS-1, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WATSON SYNDROME, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, GLANZMANN THROMBASTHENIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, COFFIN-SIRIS SYNDROME 1, ANGELMAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, RESTRICTIVE DERMOPATHY, LETHAL, TRIGONOCEPHALY 1, HUTCHINSON-GILFORD PROGERIA, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, PARIETAL FORAMINA 2, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, IMMUNODEFICIENCY 10, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HERMANSKY-PUDLAK SYNDROME 1, WAARDENBURG SYNDROME, TYPE 1, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, STORMORKEN SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, MANDIBULOACRAL DYSPLASIA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, FRONTONASAL DYSPLASIA 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, ACNE INVERSA, FAMILIAL, 3, NEUROFIBROMATOSIS, FAMILIAL SPINAL, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HERMANSKY-PUDLAK SYNDROME 7, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

PTCH1, TSC2, STIM1, FLNA, FGFR1, NGF, CDK5, LMNA, CDKL5, USP9X, MMP2, PSEN1, CXCR4, ITGB3, RAB27A, GJA1, DOCK7, NEB, MAP3K1, GRIP1, MECP2, AKT1, CTNNB1, SMARCE1, DTNBP1, WAS, ITGA3, PCNA, TGFBR1, APC, HRAS, EGFR, BLOC1S6, LRP1, NF1, PAX3, TSC1, ALX4, KIT, MYO5A, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, REVESZ SYNDROME, TANGIER DISEASE, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SULFATASE DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, GAUCHER DISEASE, PERINATAL LETHAL, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, BRUCK SYNDROME 1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, HUTCHINSON-GILFORD PROGERIA, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, WAARDENBURG SYNDROME, TYPE 4A, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GLANZMANN THROMBASTHENIA, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARASIL SYNDROME, EVEN-PLUS SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LYSYL HYDROXYLASE 3 DEFICIENCY, NIEMANN-PICK DISEASE, TYPE A, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, POROKERATOSIS 7, MULTIPLE TYPES, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PYCNODYSOSTOSIS, LOEYS-DIETZ SYNDROME 5, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, PROPIONICACIDEMIA, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, OSTEOGENESIS IMPERFECTA, TYPE XVII, RUBINSTEIN-TAYBI SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, PCWH SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, CEREBROTENDINOUS XANTHOMATOSIS, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PEELING SKIN SYNDROME 4, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DU PAN SYNDROME, OMODYSPLASIA 1, LEPRECHAUNISM, SECKEL SYNDROME 1, SULFITE OXIDASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), COENZYME Q10 DEFICIENCY, PRIMARY, 2, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ERYTHROCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 43, ANDROGEN INSENSITIVITY, ?GLYCOPROTEIN IA DEFICIENCY, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PYRUVATE KINASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SHORT SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, MULLERIAN APLASIA AND HYPERANDROGENISM, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, CORNELIA DE LANGE SYNDROME 2, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, PRADER-WILLI SYNDROME, BIOTINIDASE DEFICIENCY, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, HAY-WELLS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, WAARDENBURG SYNDROME, TYPE 4C, GAUCHER DISEASE, TYPE I, DONNAI-BARROW SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, WAARDENBURG SYNDROME, TYPE 2A, OSTEOGENESIS IMPERFECTA, TYPE I, EMBERGER SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, CORTISONE REDUCTASE DEFICIENCY 1, WEAVER SYNDROME, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, FUMARASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, PEROXISOME BIOGENESIS DISORDER 3B, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CORNELIA DE LANGE SYNDROME 4, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ETHYLMALONIC ENCEPHALOPATHY, LEIOMYOMATOSIS AND RENAL CELL CANCER, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NOONAN SYNDROME 10, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PERIODIC FEVER, FAMILIAL, MUCOPOLYSACCHARIDOSIS VII, RESTRICTIVE DERMOPATHY, LETHAL, OSTEOGENESIS IMPERFECTA, TYPE XI, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, EHLERS-DANLOS SYNDROME, TYPE IV, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEMOPHILIA A, INCONTINENTIA PIGMENTI, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, WAARDENBURG SYNDROME, TYPE 1, ALAGILLE SYNDROME, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, DARIER DISEASE, EPIDERMOLYSIS BULLOSA PRURIGINOSA, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ACROKERATOSIS VERRUCIFORMIS, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, WAARDENBURG SYNDROME, TYPE 3, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, FIBROCHONDROGENESIS 1, CORNELIA DE LANGE SYNDROME 1, VON WILLEBRAND DISEASE, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?PRUNE BELLY SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, KOSAKI OVERGROWTH SYNDROME, MUCOPOLYSACCHARIDOSIS II, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, MUCOPOLYSACCHARIDOSIS IH/S, OCULODENTODIGITAL DYSPLASIA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PHYTANIC ACID STORAGE DISEASE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, HAJDU-CHENEY SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, LYMPHEDEMA, HEREDITARY, ID, ADAMS-OLIVER SYNDROME 4, HYPOPHOSPHATASIA, CHILDHOOD, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HYPEROXALURIA, PRIMARY, TYPE 1, BARAITSER-WINTER SYNDROME 1, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ESTROGEN RESISTANCE, EHLERS-DANLOS SYNDROME, TYPE VI, ADULT SYNDROME, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MEIER-GORLIN SYNDROME 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, TIETZ ALBINISM-DEAFNESS SYNDROME, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, FUHRMANN SYNDROME, PALLISTER-HALL SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, FARBER LIPOGRANULOMATOSIS, FACTOR XIIIA DEFICIENCY, TRICHOHEPATOENTERIC SYNDROME 2, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, DOWLING-DEGOS DISEASE 4, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BRACHYDACTYLY, TYPE B1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, ICHTHYOSIS, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

LMNA, PEX14, FECH, CAV1, TNFRSF1A, ASAH1, APOB, CDK5, COL1A1, SDHD, GP1BA, RAD21, ORC1, FKBP10, FAS, CYP27A1, IKBKG, COL3A1, MSX1, DGUOK, TAP1, FTL, F2, GUSB, POGLUT1, PCCB, PPARG, LEP, ETHE1, PHYH, ITGB3, CDK4, PROS1, SOX10, PAX8, B2M, PLG, CDKN2A, ARSE, RAB7A, H6PD, MMP1, NEU1, NFKBIA, PIK3CA, SOS1, NOTCH1, PRF1, GFI1B, TGFBR2, PDGFRB, CREBBP, EFNB1, MVD, RBPJ, SF3B4, PEX5, HTRA1, PCNA, WNT7A, RASA1, ACTB, APOA2, F13A1, KRAS, RUNX1, CBL, EGFR, LZTR1, NME1, GPC3, IGF2, IDS, FLT4, PKLR, SHMT1, LRP1, COL6A1, PROC, CIITA, SKIV2L, AMACR, EDA, TAF6, BTD, PAX2, ITGA2, CPOX, MSMO1, JAK2, PLOD1, ESR1, DSP, PLOD3, IFNG, GNS, SPARC, GNAS, PDGFRA, SGSH, VEGFC, CD81, ROR2, ALPL, ATP6V1B2, ALDH18A1, STS, ALAS2, GP9, PLOD2, PANK2, TP63, NDUFA10, SMC3, NDUFS3, MYO5A, COL7A1, SUOX, TGFBR1, GLB1, VHL, SMPD1, IL2RA, CSTA, SUFU, CTNNB1, SMAD4, COL5A1, CTSK, CLASP1, MITF, VWF, CBS, MECP2, INSR, COL17A1, STAT1, TGFB3, TGFB2, IARS2, PYCR1, GJA1, SOX9, NARS2, TUBB, COL4A1, BMP2, GDF5, FKBP14, PPOX, MTOR, NDN, NR3C1, AKT1, GPC6, GALE, EXT2, WNT5A, NAGLU, COL18A1, APOA1, LDLR, UBE3A, FASLG, ARSB, LRP2, NOTCH2, EZH2, PTCH1, GLI3, POLD1, SMC1A, COL6A2, EOGT, NDUFA9, HSPA9, HK1, ATR, PTEN, ECHS1, ABCD3, CHRM3, IDUA, ITGA6, COL6A3, HRAS, ZAP70, SUMF1, LCK, SERPINC1, AR, FLNA, SMAD3, NGF, PRKCD, HNRNPK, SERPING1, PAX3, ATP2A2, JAGN1, NR5A1, JAG1, PTPN11, PEX12, DVL3, ITGA2B, AP3B1, COL11A1, STAT3, F8, PDSS1, COL5A2, AKT3, PCCA, CXCR4, ALDOA, TINF2, AGXT, GBA, SUCLG1, GLA, GLUL, GPX4, SNRPN, BDNF, FH, ADAM17, IRF6, SMAD9, APC, DHFR, EDNRB, COL1A2, HLA-C, WNT4, EPOR, MYH11, PNPLA2, ALB, HSPG2, PEX7, NDUFB11, ATIC, C10orf2, HFE, GATA2, PIK3R1, MMP2

REVESZ SYNDROME, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ATROPHODERMA VERMICULATUM, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, BRACHYDACTYLY, TYPE A1, D, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, HYPER-IGE RECURRENT INFECTION SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, MULTIPLE SULFATASE DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 7, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, BRUCK SYNDROME 1, HUTCHINSON-GILFORD PROGERIA, TYLOSIS WITH ESOPHAGEAL CANCER, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, CHIME SYNDROME, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, MYOTONIC DYSTROPHY 1, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GALLBLADDER DISEASE 1, NETHERTON SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, DONNAI-BARROW SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HERMANSKY-PUDLAK SYNDROME 1, LYMPHEDEMA, HEREDITARY, III, ESTROGEN RESISTANCE, HYPOPHOSPHATASIA, INFANTILE, GLUCOCORTICOID DEFICIENCY 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, STORMORKEN SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, ?REYNOLDS SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, PETERS-PLUS SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, IMMUNODEFICIENCY 43, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, ADAMS-OLIVER SYNDROME 5, ADULT SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MEND SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, ACNE INVERSA, FAMILIAL, 3, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, ICHTHYOSIS, X-LINKED, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERIODIC FEVER, FAMILIAL, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, METHEMOGLOBINEMIA, TYPE IV, ANDROGEN INSENSITIVITY, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, HEMOCHROMATOSIS, TYPE 2B, PREMATURE OVARIAN FAILURE 7, ?THROMBOXANE SYNTHASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, NAXOS DISEASE, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SHORT SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, {MELANOMA, CUTANEOUS MALIGNANT, 3}, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, MYHRE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, PRADER-WILLI SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XI, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, BARAITSER-WINTER SYNDROME 1, HAY-WELLS SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, BRACHYDACTYLY, TYPE A1, CORTISONE REDUCTASE DEFICIENCY 2, WAARDENBURG SYNDROME, TYPE 4C, LATERAL MENINGOCELE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, LYSYL HYDROXYLASE 3 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BJORNSTAD SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, KAHRIZI SYNDROME, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA IIA, HAILEY-HAILEY DISEASE, CRIGLER-NAJJAR SYNDROME, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, OCULOECTODERMAL SYNDROME, CORNELIA DE LANGE SYNDROME 4, ACNE INVERSA, FAMILIAL, 1, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, WARBURG MICRO SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NOONAN SYNDROME 10, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, FOCAL FACIAL DERMAL DYSPLASIA 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, 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, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, IMMUNODEFICIENCY 10, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, HEMOPHILIA A, DESBUQUOIS DYSPLASIA 2, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, DARIER DISEASE, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SMITH-LEMLI-OPITZ SYNDROME, ADERMATOGLYPHIA, LOEYS-DIETZ SYNDROME 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, GALACTOSE EPIMERASE DEFICIENCY, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, GLYCOGEN STORAGE DISEASE XI, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, VON WILLEBRAND DISEASE, TYPE 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYALINE FIBROMATOSIS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, HAJDU-CHENEY SYNDROME, SMITH-KINGSMORE SYNDROME, CHILD SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, HYPOPHOSPHATASIA, CHILDHOOD, CARNEY COMPLEX, TYPE 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, EHLERS-DANLOS SYNDROME, TYPE VI, 3MC SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, COWDEN SYNDROME 7, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, TUMOR PREDISPOSITION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, ACNE INVERSA, FAMILIAL, 2, GRISCELLI SYNDROME, TYPE 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, CHEDIAK-HIGASHI SYNDROME, LEOPARD SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SJOGREN-LARSSON SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, ACROKERATOSIS VERRUCIFORMIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

SMARCAD1, EZH2, CAV1, TREX1, CYB5A, PROS1, CDK5, TSC2, RAD21, ACTB, LBR, PIGT, IKBKG, PSEN1, TAP1, F2, B3GLCT, ARSB, PPARG, LEP, PTDSS1, OCA2, PRKAR1A, NSDHL, MC2R, APOB, G6PC3, B2M, GALE, STK11, AR, CDKN2A, DST, SLC37A4, RAB7A, PNPLA2, SEC23A, G6PC, UGT1A4, ARSE, CYB5R3, SMAD4, CYP7B1, BTK, CYP26C1, RBPJ, SRD5A3, PIGO, KRAS, FOXL2, HLA-C, LZTR1, SPINK5, NME1, LYST, NOTCH1, HSD11B1, LMNB1, LRP1, CBS, SKIV2L, PLOD3, EDA, MOGS, LMNA, ALG11, BAP1, ATP2A2, MSMO1, NR0B1, PLOD1, CBL, NCSTN, NR1I3, IFNG, KLC2, JUP, CYP4F22, LDHA, ATP2C1, TGFBR1, CD81, FKBP14, TMEM173, ALPL, RAB27A, TSHR, STS, UGT1A1, PCNA, TNFRSF1A, TP63, SEC23B, ACD, PSENEN, SMC3, ATL1, PIGA, MAN1B1, STIM1, DPAGT1, ITGB3, GJA1, CTNNB1, XYLT2, BCS1L, DVL3, VWF, TMCO1, MRAP, FLNA, TBC1D20, ANKLE2, ALG3, SLC9A6, ALDH3A2, FOXP3, HRAS, EGFR, MTOR, NDN, AKT1, TAPBP, VDR, EXT2, DTNBP1, WAS, UBE3A, DOLK, PIEZO1, ABCB4, LRP2, HNRNPK, IHH, ATL3, TINF2, PSTPIP1, NOTCH3, RPS19, PTEN, HAMP, SNAP29, ITPR2, SUMF1, PIGV, LCK, DPM1, SPTLC2, SLC40A1, ZAP70, NGF, MASP1, PIGC, RHBDF2, NR3C1, JAGN1, DHCR7, FKBP10, NR5A1, XYLT1, PIGL, PTPN11, PDE4D, PIGN, SRD5A2, BMPR1B, SPTLC1, STAT1, STAT3, F8, CACNA1C, INSR, EBP, HLA-B, NOTCH2, PLG, CERS3, ALDOA, TAP2, ANTXR2, ZMPSTE24, PLOD2, RET, IRF6, CTNS, TBXAS1, PEX16, FASLG, CDK4, MPDU1, GNRH1, AGPAT2, SMAD3, ALB, HSPG2, ESR1, ATIC, HSD3B7, HFE, SOX10, DMPK, PIK3R1

REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, LIMB-MAMMARY SYNDROME, ACNE INVERSA, FAMILIAL, 3, BRACHYDACTYLY, TYPE A1, D, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, HYPOTRICHOSIS 6, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, NICOLAIDES-BARAITSER SYNDROME, ?CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, HERMANSKY-PUDLAK SYNDROME 7, ADAMS-OLIVER SYNDROME 3, SECKEL SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, SELECTIVE T-CELL DEFECT, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, MYOTONIC DYSTROPHY 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, MYOTONIC DYSTROPHY 2, MYHRE SYNDROME, KERATOSIS PALMOPLANTARIS STRIATA I, AD, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, EPISODIC PAIN SYNDROME, FAMILIAL, 3, TRANSALDOLASE DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, WARBURG MICRO SYNDROME 2, PSORIASIS 2, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HERMANSKY-PUDLAK SYNDROME 1, LEOPARD SYNDROME 3, AGAMMAGLOBULINEMIA, X-LINKED 1, HYPER-IGE RECURRENT INFECTION SYNDROME, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FRASER SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PALLISTER-HALL SYNDROME, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, OGDEN SYNDROME, LYMPHEDEMA, HEREDITARY, IA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MUCKLE-WELLS SYNDROME, EPIDERMOLYTIC HYPERKERATOSIS, IMMUNODEFICIENCY 43, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, OPITZ GBBB SYNDROME, TYPE II, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, IMMUNODEFICIENCY 35, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, ADULT SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DUBIN-JOHNSON SYNDROME, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, BOHRING-OPITZ SYNDROME, GIANT AXONAL NEUROPATHY-1, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ALSTROM SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP P, PITYRIASIS RUBRA PILARIS, CUTIS LAXA, AD, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MECKEL SYNDROME 10, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, 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, OCULOECTODERMAL SYNDROME, CEREBRAL CAVERNOUS MALFORMATIONS-2, RUBINSTEIN-TAYBI SYNDROME, ANDROGEN INSENSITIVITY, ?GLYCOPROTEIN IA DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CINCA SYNDROME, PHELAN-MCDERMID SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, NAXOS DISEASE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LOEYS-DIETZ SYNDROME 3, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, FRANK-TER HAAR SYNDROME, TEMPLE-BARAITSER SYNDROME, EPISODIC PAIN SYNDROME, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, BEARE-STEVENSON CUTIS GYRATA SYNDROME, SMITH-KINGSMORE SYNDROME, MARTSOLF SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, OSTEOGENESIS IMPERFECTA, TYPE I, {MELANOMA, CUTANEOUS MALIGNANT, 3}, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, SCLEROSTEOSIS 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CORNELIA DE LANGE SYNDROME 2, BLEEDING DISORDER, PLATELET-TYPE, 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, ARTHROGRYPOSIS, DISTAL, TYPE 2A, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SADDAN, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, COFFIN-LOWRY SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, HERMANSKY-PUDLAK SYNDROME 9, 3-M SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, WIEACKER-WOLFF SYNDROME, TIMOTHY SYNDROME, APERT SYNDROME, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 8, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CORNELIA DE LANGE SYNDROME 4, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ACNE INVERSA, FAMILIAL, 1, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, KINDLER SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ALAGILLE SYNDROME, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, XERODERMA PIGMENTOSUM, GROUP B, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MUENKE SYNDROME, GENITOPATELLAR SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, INCONTINENTIA PIGMENTI, ?HYPOTRICHOSIS AND RECURRENT SKIN VESICLES, WAARDENBURG SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, CORNELIA DE LANGE SYNDROME 1, VOHWINKEL SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, WAARDENBURG SYNDROME, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, HYPOCHONDROPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SINGLETON-MERTEN SYNDROME 2, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, VAN DEN ENDE-GUPTA SYNDROME, GLYCOGEN STORAGE DISEASE XI, KOSAKI OVERGROWTH SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, OCULODENTODIGITAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHEDIAK-HIGASHI SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, GALLBLADDER DISEASE 1, 46XY SEX REVERSAL 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, ESCOBAR SYNDROME, EMBERGER SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, HAY-WELLS SYNDROME, LEPRECHAUNISM, RETICULATE ACROPIGMENTATION OF KITAMURA, MUIR-TORRE SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 1, GLANZMANN THROMBASTHENIA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ESTROGEN RESISTANCE, HUTCHINSON-GILFORD PROGERIA, 3MC SYNDROME 1, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), BLOOM SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, NEUROFIBROMATOSIS, TYPE 2, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, PEELING SKIN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, SECKEL SYNDROME 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, DYSAUTONOMIA, FAMILIAL, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ?PRUNE BELLY SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

PDE4D, DSG1, PEX14, GJB6, EDNRA, APOB, LMNA, COL1A1, ABCC2, NAA10, RAD21, PRKACA, ACTB, ITGB4, FAS, FERMT3, IKBKG, PIK3CA, TBXA2R, SMARCA4, CAV1, MLH1, RBBP8, PPARG, CTNNB1, CDK5, TAF1, SCN10A, GAN, ITGA2B, KMT2A, BTK, NEB, B2M, SLC17A5, PIK3CD, CDKN2A, ENG, SCARF2, KIF1B, ITGA3, TERT, RAB7A, TGFBR1, PNPLA2, MMP1, NEU1, B9D2, TGM1, MMP2, WNK1, BLOC1S6, CD81, TGFBR2, PDGFRB, ADAR, CREBBP, ECM1, MECOM, IKBKAP, CHRNG, SPECC1L, KIF1A, DLL4, PTCH1, SOX9, NF2, LDHA, GRIP1, CUL7, XRCC4, KRAS, CBL, ELN, HLA-C, KCNH1, NME1, GPC3, ALMS1, IGF2, FRMD4A, NOTCH2, LMNB1, LRP1, PIGT, CIITA, GATA2, CCM2, CRIPT, CHRM3, TAF6, PSEN1, ITGA2, ABCA1, JAK2, MYO18B, DSP, NCSTN, CHRND, CAST, IFNG, TPM2, DSC2, JUP, TALDO1, KAT6B, CDH3, GP6, DSE, F2, RBPJ, UBN1, KRIT1, NOTCH3, SF3B4, PCNA, RPS6KA3, TP63, TYK2, ACD, SMC3, CARD14, ARHGAP31, NCF1, SLX4, ITGB3, ZC4H2, DOCK7, CDSN, SMARCA2, ZAP70, RAB3GAP2, SMAD4, DVL3, GNAQ, RASA1, FLT4, SHANK3, COL17A1, RAB3GAP1, FLNA, LEP, GJA1, CHRNA1, VHL, TUBB, USP9X, ACVR1, JAG1, BMP2, HRAS, EGFR, MTOR, NR3C1, SMC1A, SCN11A, TPI1, FGFR1, ASCL1, GJB3, DDX58, WAS, GFI1B, PRKCD, LRP2, ABCB4, SH3PXD2B, MAP2K2, FERMT1, GLI3, AKT1, DSG4, CNBP, CDKN1C, HSPA9, EFNB1, ATIC, PTEN, BMPR1B, FGFR3, ABCB11, TSC1, SNAP29, ITGA6, KIT, STAT3, AIRE, LRP4, LCK, GJB2, PLEC, AR, SLC2A1, SMAD3, NGF, MASP1, HNRNPK, PAX3, ATR, ASXL1, ADAM10, JAGN1, MYH3, KLC2, KIF22, LYST, PTPN11, CXCR4, DTNBP1, AP3B1, CLDN1, DMPK, STAT1, NFKB1, ESR1, MAP3K1, MYOM1, CACNA1C, NOG, INSR, HLA-B, NOTCH1, PLG, SOS1, DST, BLM, FGFR2, PTPRC, BRAF, DSC3, DMXL2, BDNF, CLASP1, RET, ERCC3, APC, PSTPIP1, EDNRB, FASLG, CDK4, RPS19, GNRH1, OCLN, MYH11, PPP1R15B, KRT1, ADAM17, HSPG2, NLRP3, CASP8, SKI, TINF2, FLNB, ERCC4, PIK3R1

BARAITSER-WINTER SYNDROME 1, ATROPHODERMA VERMICULATUM, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, SECKEL SYNDROME 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 2, ZIMMERMANN-LABAND SYNDROME 1, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, IMMUNODEFICIENCY 43, TRIGONOCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, ADAMS-OLIVER SYNDROME 5, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, OCULODENTODIGITAL DYSPLASIA, LARSEN SYNDROME, HYPOCHONDROPLASIA, RETICULATE ACROPIGMENTATION OF KITAMURA, 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, ARTHROGRYPOSIS, DISTAL, TYPE 8, ?GLYCOPROTEIN IA DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CINCA SYNDROME, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ADAMS-OLIVER SYNDROME 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, VAN DEN ENDE-GUPTA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SADDAN, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, LYMPHEDEMA, HEREDITARY, IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CORNELIA DE LANGE SYNDROME 4, ACNE INVERSA, FAMILIAL, 1, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, KINDLER SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, WIEDEMANN-STEINER SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MUENKE SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CORNELIA DE LANGE SYNDROME 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ANDROGEN INSENSITIVITY, DIAMOND-BLACKFAN ANEMIA 1, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, HUTCHINSON-GILFORD PROGERIA, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, MYOTONIC DYSTROPHY 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, APERT SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

LMNA, CAV1, FGFR1, APOB, COL1A1, CNBP, RAD21, ACTB, PIGT, F2, ATP6V1B2, RBBP8, DOCK7, LEP, CDK5, ITGA2B, BMP2, GJA1, B2M, ENG, SCARF2, ITGA3, PNPLA2, MMP1, SMARCA4, RPS19, GFI1B, DLL4, MYH3, CD81, KIF1A, PDGFRB, RASA1, KRAS, MAP2K2, EGFR, AR, IGF2, NOTCH1, LRP1, ITGB4, EDNRA, TAF6, ITGA2, JAK2, NLRP3, CBL, NCSTN, IFNG, TPM2, JUP, TGFBR1, RBPJ, SF3B4, WAS, KMT2A, PTPRC, SMC3, ARHGAP31, GPC3, ITGB3, PPARG, CTNNB1, SMAD4, FLT4, COL17A1, STAT1, VHL, KIF1B, TUBB, SMC1A, PLEC, ASCL1, HLA-C, CASP8, AKT1, HSPA9, ATIC, PTEN, FGFR3, CHRM3, ITGA6, KIT, STAT3, LCK, FLNA, NGF, PRKCD, HNRNPK, KIF22, MMP2, PTPN11, CLDN1, NFKB1, FERMT1, PRKACA, HLA-B, PLG, SOS1, DST, FGFR2, BRAF, RET, HRAS, LRP2, GNRH1, MYH11, ADAM10, NR3C1, HSPG2, ESR1, PIK3R1, FLNB, CAST

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ATROPHODERMA VERMICULATUM, BARAITSER-WINTER SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPHEROCYTOSIS, TYPE 4, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, BRACHYDACTYLY, TYPE B1, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, LYMPHEDEMA, HEREDITARY, IA, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ALBINISM, OCULOCUTANEOUS, TYPE IA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HERMANSKY-PUDLAK SYNDROME 1, ALBINISM, OCULOCUTANEOUS, TYPE III, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, LOWE SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, IMMUNODEFICIENCY 43, ACNE INVERSA, FAMILIAL, 3, IMMUNODEFICIENCY 35, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, MENKES DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, ANGELMAN SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, SECKEL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, FRONTOMETAPHYSEAL DYSPLASIA, FRANK-TER HAAR SYNDROME, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, PSEUDOHYPOPARATHYROIDISM IA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, WAARDENBURG SYNDROME, TYPE 2A, EMBERGER SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, MEDNIK SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, WARBURG MICRO SYNDROME 3, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, TIMOTHY SYNDROME, NOONAN SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, {PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, COWDEN SYNDROME 7, WISKOTT-ALDRICH SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEMOPHILIA A, WAARDENBURG SYNDROME, TYPE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, AMYOTROPHY, HEREDITARY NEURALGIC, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, WRINKLY SKIN SYNDROME, WAARDENBURG SYNDROME, TYPE 3, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SIALIC ACID STORAGE DISORDER, INFANTILE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, PREMATURE AGING SYNDROME, PENTTINEN TYPE, WARBURG MICRO SYNDROME 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, LYMPHEDEMA, HEREDITARY, ID, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE XVII, 3MC SYNDROME 1, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, TIETZ ALBINISM-DEAFNESS SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, GRISCELLI SYNDROME, TYPE 2, FACTOR XIIIA DEFICIENCY, PALLISTER-HALL SYNDROME, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, TANGIER DISEASE, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

MITF, CAV1, APOB, PRKACA, ACTB, GNAS, CIITA, PSEN1, F2, RAB27A, MYO5A, PPARG, CTNNB1, CDK5, OCA2, PRKAR1A, ITGA2B, WNT5A, BTK, B2M, SLC17A5, CDKN2A, KIF1B, RAB7A, SEC23A, PIK3CA, SERPING1, CREBBP, OCRL, IKBKAP, ATP6V0A2, SF3B4, PDGFRB, SOX9, RASA1, GP1BA, GRIP1, ACVR1, MMP2, APOA1, PROC, CASP8, EGFR, ISG15, IGF2, VWF, PFKM, LRP1, GATA2, SNAP29, LEP, DMXL2, ABCA1, JAK2, CBL, HLA-DQA1, IFNG, RAB3GAP1, VPS33B, SPARC, TGFBR1, DSE, SLC4A1, AP1S1, ROR2, TMEM173, TSHR, RAB18, PCNA, STAT3, SEC23B, SMC3, TYRP1, SEPT9, GATA1, FASLG, NCF1, GPC3, TYR, GJA1, IL2RA, SMAD4, DVL3, FLT4, VEGFC, GHR, KLC2, TGFB3, TGFB2, BMP2, TUBB, AKT1, AP1S3, CYBB, TAPBP, DTNBP1, PRKCD, LDLR, UBE3A, HLA-DQB1, SH3PXD2B, GLI3, CDK4, PSTPIP1, EFNB1, PTEN, F13A1, ABCB11, PROS1, ITGA6, OCLN, AIRE, LCK, FLNA, ZAP70, NGF, MASP1, HNRNPK, PAX3, ALB, JAGN1, CLDN1, PTPN11, ATM, DDX58, ATP7A, STAT1, NFKB1, WAS, F8, CACNA1C, INSR, HLA-B, PLG, SOS1, CXCR4, ALDOA, TYK2, CYBA, PDGFRA, PCSK9, BDNF, RET, CTLA4, HRAS, HLA-C, AP3B1, EPOR, MYH11, ATR, HSPG2, ITGB3, ATIC, MTOR, PIK3R1

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), ICHTHYOSIS, X-LINKED, NIEMANN-PICK DISEASE, TYPE A, GM1-GANGLIOSIDOSIS, TYPE I, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, KOSAKI OVERGROWTH SYNDROME, OMODYSPLASIA 1, CORNELIA DE LANGE SYNDROME 4, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DONNAI-BARROW SYNDROME, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, EHLERS-DANLOS SYNDROME, TYPE 3, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS II, FARBER LIPOGRANULOMATOSIS, MUCOPOLYSACCHARIDOSIS IH/S, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TANGIER DISEASE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PYCNODYSOSTOSIS, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PEELING SKIN SYNDROME 4, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, LOEYS-DIETZ SYNDROME 4, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, GAUCHER DISEASE, TYPE I

CSTA, GPC3, GLB1, SMPD1, APOA1, COL1A1, RAD21, CTSK, IDS, NOTCH1, STAT1, TGFB2, GUSB, GNS, ASAH1, BMP2, GPC6, IDUA, CBL, NAGLU, GBA, IFNG, GLA, EGFR, LRP2, SGSH, NEU1, FASLG, STS, PDGFRB, HSPG2, ARSB

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, EMBERGER SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, ATROPHODERMA VERMICULATUM, VON WILLEBRAND DISEASE, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, VON WILLIBRAND DISEASE, TYPE 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, ID, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLANZMANN THROMBASTHENIA, OSTEOGENESIS IMPERFECTA, TYPE XVII, HEMOPHILIA A, RABSON-MENDENHALL SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TANGIER DISEASE, FACTOR XIIIA DEFICIENCY, GLYCOGEN STORAGE DISEASE XII, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, LOEYS-DIETZ SYNDROME 4, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

TGFB2, APOB, APOA1, IGF2, VWF, STAT1, TGFB3, ITGB3, LRP1, GATA2, LEP, F8, INSR, PLG, ITGA2B, PROS1, ALDOA, F2, LDLR, SPARC, TGFBR1, VEGFC, AKT1, FASLG, SERPING1, F13A1, ALB, HSPG2, CTNNB1, PTEN

MULLERIAN APLASIA AND HYPERANDROGENISM, ATROPHODERMA VERMICULATUM, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, SELECTIVE T-CELL DEFECT, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, KERATOSIS PALMOPLANTARIS STRIATA I, AD, ACRODERMATITIS ENTEROPATHICA, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, CARASIL SYNDROME, HEMOCHROMATOSIS, TYPE 2B, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, ABLEPHARON-MACROSTOMIA SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PERIODONTITIS 1, JUVENILE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MULTIPLE SYNOSTOSES SYNDROME 1, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, MANDIBULOACRAL DYSPLASIA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MUCKLE-WELLS SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, CARPENTER SYNDROME 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, HAIM-MUNK SYNDROME, IMMUNODEFICIENCY 35, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, EPISODIC PAIN SYNDROME, FAMILIAL, 2, MICROPHTHALMIA, SYNDROMIC 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, SPHEROCYTOSIS, TYPE 4, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, NAXOS DISEASE, PEROXISOME BIOGENESIS DISORDER 14B, COFFIN-SIRIS SYNDROME 3, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ANGELMAN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DOWLING-DEGOS DISEASE 1, NAIL-PATELLA SYNDROME, FLOATING-HARBOR SYNDROME, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, HYPERBILIVERDINEMIA, WOOLLY HAIR, AUTOSOMAL DOMINANT, PRADER-WILLI SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, DERMATOPATHIA PIGMENTOSA RETICULARIS, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MUCOPOLYSACCHARIDOSIS TYPE IIID, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, NEUROFIBROMATOSIS, TYPE 1, HEIMLER SYNDROME 2, BRACHYDACTYLY, TYPE A1, WAARDENBURG SYNDROME, TYPE 4C, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, LYSYL HYDROXYLASE 3 DEFICIENCY, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NESTOR-GUILLERMO PROGERIA SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, HYPER-IGD SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, MUCOPOLYSACCHARIDOSIS VII, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, COWDEN SYNDROME 7, MUENKE SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, POROKERATOSIS 3, MULTIPLE TYPES, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, OGDEN SYNDROME, TUBEROUS SCLEROSIS-1, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, VAN DEN ENDE-GUPTA SYNDROME, NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME, VAN MALDERGEM SYNDROME 2, PSEUDOHYPOPARATHYROIDISM IA, BARBER-SAY SYNDROME, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MENKES DISEASE, KANZAKI DISEASE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ?CANDIDIASIS, FAMILIAL, 8, HAY-WELLS SYNDROME, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MARFAN LIPODYSTROPHY 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, XERODERMA PIGMENTOSUM, GROUP B, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, HOLOPROSENCEPHALY-5, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, DONNAI-BARROW SYNDROME, MYOTONIC DYSTROPHY 1, NIJMEGEN BREAKAGE SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, WATSON SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, PACHYONYCHIA CONGENITA 2, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, HYPOTRICHOSIS 11, FARBER LIPOGRANULOMATOSIS, LEOPARD SYNDROME 3, ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, PYCNODYSOSTOSIS, ALBINISM, OCULOCUTANEOUS, TYPE III, ARGININOSUCCINIC ACIDURIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE XVII, GRISCELLI SYNDROME, TYPE 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RETICULATE ACROPIGMENTATION OF KITAMURA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, OLIGODONTIA-COLORECTAL CANCER SYNDROME, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CINCA SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, HEMOPHILIA A, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, MARTSOLF SYNDROME, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, GAPO SYNDROME, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, MUCOPOLYSACCHARIDOSIS IH, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, JOHANSON-BLIZZARD SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CORTISONE REDUCTASE DEFICIENCY 2, GAUCHER DISEASE, TYPE I, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, JOUBERT SYNDROME 10, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, PROLIDASE DEFICIENCY, EVEN-PLUS SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, ARTHROGRYPOSIS, DISTAL, TYPE 8, FRUCTOSE INTOLERANCE, WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, LEIOMYOMATOSIS AND RENAL CELL CANCER, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, BOHRING-OPITZ SYNDROME, NOONAN SYNDROME 10, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ESTROGEN RESISTANCE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, ALAGILLE SYNDROME, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?IMMUNODEFICIENCY 22, BECKWITH-WIEDEMANN SYNDROME, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ACROCAPITOFEMORAL DYSPLASIA, BIOTINIDASE DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?HYPOTRICHOSIS 13, ?PRUNE BELLY SYNDROME, HYPOTRICHOSIS 8, MELEDA DISEASE, ICHTHYOSIS WITH CONFETTI, ICHTHYOSIS, X-LINKED, DUBIN-JOHNSON SYNDROME, C4A DEFICIENCY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, POROKERATOSIS 1, MULTIPLE TYPES, ERYTHROCYTOSIS, FAMILIAL, 2, THROMBOCYTOPENIA 5, SECKEL SYNDROME 1, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, BRANCHIOOCULOFACIAL SYNDROME, [SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN], ALBINISM, OCULOCUTANEOUS, TYPE VI, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, GALLBLADDER DISEASE 1, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, COMPLEMENT FACTOR I DEFICIENCY, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, PITYRIASIS RUBRA PILARIS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, HERMANSKY-PUDLAK SYNDROME 9, FUHRMANN SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, TUMOR PREDISPOSITION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, GRISCELLI SYNDROME, TYPE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, ?MICROPHTHALMIA, SYNDROMIC 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, NEUROCUTANEOUS MELANOSIS, SOMATIC, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, LEOPARD SYNDROME 1, XERODERMA PIGMENTOSUM, GROUP D, LOEYS-DIETZ SYNDROME 4, SJOGREN-LARSSON SYNDROME, ACROKERATOSIS VERRUCIFORMIS, HERMANSKY-PUDLAK SYNDROME 7, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, POPLITEAL PTERYGIUM SYNDROME 1, RITSCHER-SCHINZEL SYNDROME 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, WARBURG MICRO SYNDROME 2, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, FRONTOMETAPHYSEAL DYSPLASIA, AMYOTROPHY, HEREDITARY NEURALGIC, 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, IMMUNODEFICIENCY 43, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLUTAMINE DEFICIENCY, CONGENITAL, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, GIANT AXONAL NEUROPATHY-1, COLD-INDUCED SWEATING SYNDROME 2, LEPRECHAUNISM, ACNE INVERSA, FAMILIAL, 1, MECKEL SYNDROME 10, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, NEU-LAXOVA SYNDROME 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PHELAN-MCDERMID SYNDROME, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 3, VOHWINKEL SYNDROME WITH ICHTHYOSIS, TEMPLE-BARAITSER SYNDROME, FILS SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, CORNELIA DE LANGE SYNDROME 2, HYPERLIPOPROTEINEMIA, TYPE IB, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, LIMB-MAMMARY SYNDROME, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, AL-RAQAD SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA IIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, SCLEROSTEOSIS 1, C2 DEFICIENCY, XERODERMA PIGMENTOSUM, GROUP C, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, PAPILLON-LEFEVRE SYNDROME, EPIDERMOLYSIS BULLOSA PRURIGINOSA, HARTNUP DISORDER, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, GALACTOSE EPIMERASE DEFICIENCY, AYME-GRIPP SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, PACHYONYCHIA CONGENITA 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, BRACHYDACTYLY, TYPE B2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, PHYTANIC ACID STORAGE DISEASE, 46XY SEX REVERSAL 6, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, IMMUNODEFICIENCY 38, BRACHYDACTYLY, TYPE A1, D, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, OROFACIODIGITAL SYNDROME I, ACROMICRIC DYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CUTIS LAXA, AD, STEATOCYSTOMA MULTIPLEX, ?SNEDDON SYNDROME, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, PALLISTER-HALL SYNDROME, OCCIPITAL HORN SYNDROME, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, PARAGANGLIOMAS 4, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, BRACHYDACTYLY, TYPE B1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, LYMPHEDEMA, HEREDITARY, ID, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, HEPATIC LIPASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, LYSINURIC PROTEIN INTOLERANCE, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, GLUCOCORTICOID RESISTANCE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, EPISODIC PAIN SYNDROME, FAMILIAL, 3, TRANSALDOLASE DEFICIENCY, MEIER-GORLIN SYNDROME 1, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, ?ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE, GRISCELLI SYNDROME, TYPE 1, HUTCHINSON-GILFORD PROGERIA, LESCH-NYHAN SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, CORNELIA DE LANGE SYNDROME 3, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ACNE INVERSA, FAMILIAL, 3, NOONAN SYNDROME 4, ADULT SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PEELING SKIN SYNDROME 4, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, DIGITAL CLUBBING, ISOLATED CONGENITAL, EPIDERMOLYTIC HYPERKERATOSIS, KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, CEREBRAL CAVERNOUS MALFORMATIONS-2, METHEMOGLOBINEMIA, TYPE IV, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PREMATURE OVARIAN FAILURE 7, PYRUVATE KINASE DEFICIENCY, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, AMELOGENESIS IMPERFECTA, TYPE IA, URBACH-WIETHE DISEASE, BRUCK SYNDROME 2, WHITE SPONGE NEVUS 2, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, NEU-LAXOVA SYNDROME 2, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, FRA12A TYPE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, WAARDENBURG SYNDROME, TYPE 3, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, VAN MALDERGEM SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, THYROID DYSHORMONOGENESIS 1, WAARDENBURG SYNDROME, TYPE 2A, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, LOWE SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, PSORIASIS 2, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, BIRT-HOGG-DUBE SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, DENTAL ANOMALIES AND SHORT STATURE, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, GENITOPATELLAR SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, CHILD SYNDROME, DARIER DISEASE, SECKEL SYNDROME 9, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, VOHWINKEL SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, WRINKLY SKIN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, GLYCOGEN STORAGE DISEASE XI, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, RENPENNING SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, BLEEDING DISORDER, PLATELET-TYPE, 11, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HEMOCHROMATOSIS, TYPE 4, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, DIAMOND-BLACKFAN ANEMIA 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CRANIOSYNOSTOSIS 6, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, TIETZ ALBINISM-DEAFNESS SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, HAMAMY SYNDROME, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MUCOPOLYSACCHARIDOSIS IH/S, DOWLING-DEGOS DISEASE 4, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, WARBURG MICRO SYNDROME 3, MONILETHRIX, ?MONILETHRIX, SMITH-KINGSMORE SYNDROME, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CYANOSIS, TRANSIENT NEONATAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

UROD, SNRPE, EDNRA, PROS1, TSC2, GP1BA, GNAS, CIITA, COL3A1, FTL, KRIT1, POGLUT1, POLD1, ADAMTS18, SCN10A, NSDHL, SLC5A5, B2M, NRAS, NOG, DST, ITGA3, FH, PHF8, SEC23A, WNK1, ARSE, GFI1B, CYB5R3, CREBBP, GNE, MSX2, SLC6A19, PEX5, NF2, F13A1, KL, APOA1, HAMP, ISG15, THRA, SPINT2, MTOR, ASAH1, TAF6, BTD, TNXB, PIK3CD, IFNG, CBL, NCSTN, NR1I3, JAK2, GNS, SPARC, VPS33B, SGSH, VEGFC, ROR2, DDX3X, GUSB, KRAS, TNNT2, TP63, TYK2, SMC3, NDUFS7, SEPT9, MLPH, GATA1, MAN1B1, BANF1, GP6, ALDOA, CTNNB1, IL2RA, NDUFS3, SUFU, LTBP3, BCS1L, DVL3, CHST14, SLC4A1, TPM2, ITIH4, PDGFRB, HPRT1, LAMA3, GDF2, SOX9, PQBP1, TUBB, AKT1, RIPK4, TPI1, LRPPRC, LHB, UBE3A, ABCB4, HNRNPK, EZH2, GLI3, HSPA9, ORC1, EFNB1, MBD5, ECHS1, XPC, NOD2, COL6A3, SART3, POLA1, CUL4B, PIGA, SLC2A1, FGF23, MASP1, KRT86, LAMC2, PTPN11, CXCR4, GMPPA, DMPK, ENG, HLA-B, HOXC13, SMARCA2, SCARF2, PTPRC, CTSC, DMXL2, GPX4, PLOD2, BDNF, RAB7A, ADAM17, CTNS, ACVRL1, EGFR, AP3B1, KRT14, PPP1R15B, ALB, TSC1, PDE4D, HPGD, FSHB, PEX14, CYBA, TREX1, IRX5, TRAIP, MMP1, NAA10, ACTB, FERMT3, PSEN1, DGUOK, ZIC1, ITGA2B, IDUA, KMT2A, NDUFS4, DNASE1, NPR2, GDF5, MT-CO3, NBN, SOS1, PRF1, MITF, NR5A1, HSD11B1, IKBKAP, IL2RG, CD81, KIF1A, TGFBR2, SHOC2, TGFB2, MMP2, ALDOB, MAP2K2, HLA-C, TFAP2A, CYP7B1, NME1, CARD14, VWF, PKLR, ERCC3, NAGA, CBS, CYB5A, MYO18B, COL17A1, B9D2, C2, MYOM1, DSC2, JUP, CCDC22, LIPC, KAT6B, ZMPSTE24, MEN1, GDNF, RBPJ, FANCA, STS, RAB18, VIPAS39, STAT3, BRAF, AKR1D1, POMP, NCF1, COL18A1, ALPL, UBE2A, FOLR1, MT-ATP6, ADAR, KRT5, RASA1, FLT4, SMAD9, UBR1, KLC2, PEX11B, NFKB2, BMP2, HBG2, ALDH3A2, HRAS, NDN, SMC1A, PLEC, VDR, FGFR1, ASCL1, NAGLU, AXIN2, PMVK, LRP2, SOX18, NCF2, ELN, PSTPIP1, NF1, FREM2, ABCB11, MAF, ANTXR1, ITGA6, KIT, MT-ND3, AGPAT2, CLCF1, AR, SLC26A2, ZAP70, CYBB, SLC12A6, MTRR, PAX3, ATP2A2, JAGN1, B3GAT3, ITGB4, SLC39A4, APOC2, MSX1, DTNBP1, MTR, SPTLC1, SDHB, F8, CACNA1C, PLG, BLM, NIPBL, SHMT1, OFD1, PCSK9, PCNA, COG4, AGA, CTLA4, KIF1BP, WNT4, ALOXE3, SMAD3, HSPG2, NLRP3, C10orf2, SKIV2L, ATIC, LMNA, F2, TNFRSF1A, TBXA2R, IL10RB, RAD21, AKT3, FAS, BRCA2, IKBKG, PEX6, PLCD1, ATP6V1B2, KRT25, PMM2, LEP, CDK5, PPP1R3A, PSAT1, APOB, SHANK3, SLC24A5, NEB, ECE1, STK11, CDKN1C, BCOR, PNPLA2, FANCM, PIK3CA, LTBP4, BMPER, JAG1, SERPING1, ST14, ECM1, PRKACG, BAP1, ADAM10, COL6A2, GRIP1, ACVR1, SMARCA4, RUNX1, DSP, IL31RA, LZTR1, KCNH1, IGF2, NOTCH2, GATA2, MLH1, SNAP29, MOGS, NTRK1, COL1A2, ITGA2, KRT1, MSMO1, ABCA1, PLOD1, PROC, PLOD3, PSMB8, SLURP1, GNAQ, NFKBIA, ACP5, TALDO1, KRT16, PFKM, DSE, FKBP14, TMEM173, TBX3, TSHR, ESR1, RBP4, GP9, RPS6KA3, WAS, NDUFV1, ACD, TYRP1, COL7A1, TYR, DKC1, SMPD1, KCNN4, SDHD, GALNT3, PAX2, LMX1B, CCM2, RORC, VHL, SLC9A6, KIF1B, LTBP2, CHMP1A, BRCA1, NR3C1, FLNB, WRN, FBN1, PHGDH, GJB2, IHH, KRT74, CDK4, TERT, NDUFA9, RPS19, PTEN, FGFR3, ABCD3, BTK, EHMT1, SERPINC1, ASXL1, SLC40A1, SMARCB1, PRKCD, KRT17, FAT4, CASP10, MED25, TNFAIP3, MAN2B1, ATP7A, CLDN1, STAMBP, KITLG, PEPD, POLE, RBCK1, NDUFA10, GBA, SUCLG1, RAB3GAP1, ABCC9, LAMTOR2, CLASP1, DCPS, EDNRB, POLG, MTAP, KRT10, SFTPC, OCLN, HTRA1, NDUFB11, IRF6, TINF2, DHFR, SRCAP, TWIST2, DSG1, FUCA1, CAV1, COL1A1, CNBP, MAP3K1, PIGT, TAP1, ITGB3, RAB27A, MYO5A, PPARG, COL5A1, PRKAR1A, PHYH, GAN, KISS1R, CDSN, SOX10, BLVRA, CDKN2A, RAB3GAP2, CASP8, NEU1, TGM1, EFEMP2, BLOC1S6, ERCC2, FGD1, CECR1, SMAD4, OCRL, HLA-DQA1, KRT13, ATP6V0A2, DLL4, PTCH1, WNT7A, CTSK, APOA2, TAF1, FBLN5, ABCA12, FLCN, TRAF3IP2, ETV6, CDAN1, GLUL, LMNB1, LRP1, COL6A1, ABCC2, MEGF8, C4A, STAT1, TGFBR1, EPHX2, AP1S1, NDUFA2, KRT6C, SOST, NOTCH3, SF3B4, SLC7A7, SEC23B, DCHS1, PCK1, PAX8, GPC3, GJA1, CSTA, MYH3, COL4A1, LDHA, ZIC2, MECP2, MVK, NLRC4, APC, LAMB3, CHRNA1, FOXP3, IL1RN, KRT71, SCN11A, GALE, EXT2, WNT5A, DDX58, CFI, SPINK5, LDLR, PHOX2B, KANK2, MCM4, ARSB, HOXD13, CHRM3, TAPBP, LMBRD1, PAH, SUMF1, LCK, LOR, FLNA, NGF, HCCS, ATR, ASL, PRNP, LYST, ATM, GLB1, NFKB1, FCGR2A, PRKACA, INSR, NOTCH1, IL10RA, MSH2, FGFR2, PLCG2, LIFR, GLA, PDGFRA, DIP2B, RET, GALNT14, HFE, KRT9, FASLG, TTC37, MPDU1, GNRH1, ABCB6, MYH11, BMPR1B, CAST, HPS1, PIK3R1

PAPILLORENAL SYNDROME, ATROPHODERMA VERMICULATUM, REVESZ SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MULTIPLE SULFATASE DEFICIENCY, MANNOSIDOSIS, BETA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, MYOTONIC DYSTROPHY 1, GLUCOCORTICOID RESISTANCE, ALBINISM, OCULOCUTANEOUS, TYPE IA, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, HERMANSKY-PUDLAK SYNDROME 1, PERIODONTITIS 1, JUVENILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, 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, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FUCOSIDOSIS, IMMUNODEFICIENCY 43, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, NEUROFIBROMATOSIS, FAMILIAL SPINAL, HAIM-MUNK SYNDROME, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ICHTHYOSIS, X-LINKED, OCULODENTODIGITAL DYSPLASIA, HYPOCHONDROPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), C2 DEFICIENCY, ANGELMAN SYNDROME, HEMOPHILIA A, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2A, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WAARDENBURG SYNDROME, TYPE 3, HERMANSKY-PUDLAK SYNDROME 2, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BARAITSER-WINTER SYNDROME 1, HAY-WELLS SYNDROME, SADDAN, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, WAARDENBURG SYNDROME, TYPE 2A, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, MEDNIK SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, ARTHROGRYPOSIS, DISTAL, TYPE 8, CORNELIA DE LANGE SYNDROME 4, WHIM SYNDROME, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CLOVE SYNDROME, SOMATIC, ESTROGEN RESISTANCE, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MUENKE SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, PAPILLON-LEFEVRE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, EPIDERMAL NEVUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, ASPARTYLGLUCOSAMINURIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, KANZAKI DISEASE, NEUROFIBROMATOSIS, TYPE 1, WATSON SYNDROME, ADULT SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, TIETZ ALBINISM-DEAFNESS SYNDROME, FARBER LIPOGRANULOMATOSIS, GRISCELLI SYNDROME, TYPE 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

FUCA1, MMP2, RAD21, MAP3K1, ACTB, FAS, FERMT3, ACP5, GLB1, RAB27A, PPARG, BTK, MANBA, PLG, MAN2B1, CCDC115, RAB7A, NEU1, PIK3CA, PRF1, MITF, TGFB2, SMARCA4, APOA1, EGFR, NME1, NAGA, MTOR, ASAH1, PIK3CD, CBL, C2, VPS33B, NCF2, TAF1, AP1S1, STS, ABCA5, TP63, FASLG, NCF1, TYR, GJA1, IL2RA, MYH3, DVL3, GNS, CTNS, PAX2, STAT1, BRCA1, AKT1, CYBB, NAGLU, LDLR, UBE3A, LRP2, ARSB, NF1, FGFR3, IDUA, KIT, SUMF1, NGF, B2M, PAX3, ALB, NTRK1, CXCR4, TNFAIP3, AP3B1, DMPK, STAT3, F8, HLA-B, AKT3, ALDOA, CTSC, GLA, PCSK9, PCNA, AGA, HRAS, HLA-C, LRP1, SFTPB, GNRH1, NR3C1, HSPG2, ESR1, TINF2, HPS1, SPTLC1

EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, {PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, GLYCOGEN STORAGE DISEASE XI, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, MENKES DISEASE, OCULODENTODIGITAL DYSPLASIA, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ADAMS-OLIVER SYNDROME 6, WHIM SYNDROME, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HEMOCHROMATOSIS, TYPE 2B, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, GLUCOCORTICOID RESISTANCE, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, OCCIPITAL HORN SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CARDIOFACIOCUTANEOUS SYNDROME, HEMOCHROMATOSIS, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TANGIER DISEASE, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, GRISCELLI SYNDROME, TYPE 2, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, TUBEROUS SCLEROSIS 2, ATROPHODERMA VERMICULATUM, HERMANSKY-PUDLAK SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, WIEDEMANN-STEINER SYNDROME, IMMUNODEFICIENCY 43, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, ACNE INVERSA, FAMILIAL, 3, ZINC DEFICIENCY, TRANSIENT NEONATAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

LCK, TSC2, LAMC2, SLC2A1, SLC40A1, ABCA5, APOB, GJA1, APOA1, CBL, MAP2K2, HAMP, LDHA, IGF2, NTRK1, PSEN1, CXCR4, ATP7A, SPTLC1, RAB27A, SLC9A6, ALB, AKT1, KMT2A, B2M, KCNN4, LDLR, EGFR, VPS33B, PCSK9, VIPAS39, RAB7A, CTNS, STEAP3, SLC30A2, HLA-C, AP3B1, SFTPC, DLL4, ZAP70, LAMTOR2, NR3C1, LRP1, GNRH1, PTEN

PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PHYTANIC ACID STORAGE DISEASE, PEROXISOME BIOGENESIS DISORDER 3B, POROKERATOSIS 1, MULTIPLE TYPES, SHORT SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, MULIBREY NANISM, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPEROXALURIA, PRIMARY, TYPE 1, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PEROXISOME BIOGENESIS DISORDER 14B, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, CHILD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), ALAGILLE SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, HEIMLER SYNDROME 2, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, SJOGREN-LARSSON SYNDROME, HEIMLER SYNDROME 1

PEX1, PEX14, PEX26, PEX6, PEX12, PEX11B, AMACR, ALDH3A2, PHYH, NSDHL, CTNNB1, TMEM173, PMVK, MPV17, EPHX2, AGXT, PEX16, JAG1, PEX5, SMAD3, ABCD3, PEX7, TRIM37, DHFR, PIK3R1

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), ICHTHYOSIS, X-LINKED, NIEMANN-PICK DISEASE, TYPE A, GM1-GANGLIOSIDOSIS, TYPE I, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, KOSAKI OVERGROWTH SYNDROME, OMODYSPLASIA 1, CORNELIA DE LANGE SYNDROME 4, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DONNAI-BARROW SYNDROME, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, EHLERS-DANLOS SYNDROME, TYPE 3, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS II, FARBER LIPOGRANULOMATOSIS, MUCOPOLYSACCHARIDOSIS IH/S, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TANGIER DISEASE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PYCNODYSOSTOSIS, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PEELING SKIN SYNDROME 4, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, LOEYS-DIETZ SYNDROME 4, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, GAUCHER DISEASE, TYPE I

CSTA, GPC3, GLB1, SMPD1, APOA1, COL1A1, RAD21, CTSK, IDS, NOTCH1, STAT1, TGFB2, GUSB, GNS, ASAH1, BMP2, GPC6, IDUA, CBL, NAGLU, GBA, IFNG, GLA, EGFR, LRP2, SGSH, NEU1, FASLG, STS, PDGFRB, HSPG2, ARSB

BARAITSER-WINTER SYNDROME 1, ATROPHODERMA VERMICULATUM, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, HYPER-IGE RECURRENT INFECTION SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, GAUCHER DISEASE, PERINATAL LETHAL, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ZIMMERMANN-LABAND SYNDROME 2, ZIMMERMANN-LABAND SYNDROME 1, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PSEUDOHYPOPARATHYROIDISM IA, ACNE INVERSA, FAMILIAL, 3, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, PSEUDOPSEUDOHYPOPARATHYROIDISM, PSEUDOHYPOPARATHYROIDISM IC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, INCONTINENTIA PIGMENTI, 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, IMMUNODEFICIENCY 43, ZINC DEFICIENCY, TRANSIENT NEONATAL, LOEYS-DIETZ SYNDROME 3, WRINKLY SKIN SYNDROME, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, GAUCHER DISEASE, TYPE I, DONNAI-BARROW SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, EMBERGER SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, MEDNIK SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, OCULOECTODERMAL SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, ACNE INVERSA, FAMILIAL, 1, WHIM SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NON-IMMUNE HYDROPS FETALIS, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SIALIC ACID STORAGE DISORDER, INFANTILE, HYPOPHOSPHATASIA, CHILDHOOD, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ADULT SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, {PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, COLE DISEASE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

HGSNAT, NCF1, CAV1, SMAD3, CTNNB1, APOA1, CBL, CASP8, SPTLC1, SMAD4, OCA2, ALB, ACTB, GNAQ, NGF, SLC17A5, GNAS, IKBKG, PSEN1, CXCR4, STAT1, LMNB1, ALPL, AP3B1, COL6A1, ENPP1, GATA2, LRP2, TP63, CDK5, INSR, FOXP3, APOB, PLG, MTOR, AKT1, AP1S3, JAK2, BTK, RUNX1, ECE1, NCSTN, PTPRC, GBA, IL2RA, MYOM1, EGFR, VPS33B, HLA-DQB1, LAMTOR2, RAB7A, NEU1, HLA-DQA1, CTNS, ATP6V1B2, AP1S1, HRAS, SLC30A2, HLA-C, PSMB8, LRP1, KRAS, IFNG, SLC7A7, ABCA5, IRF6, HSPG2, B2M, STAT3, LMBRD1, ATP6V0A2, ALOXE3, PIK3R1

CLOVE SYNDROME, SOMATIC, TUBEROUS SCLEROSIS 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPIDERMAL NEVUS, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 43, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PYCNODYSOSTOSIS, PROTEUS SYNDROME, SOMATIC

B2M, IFNG, PRF1, STAT3, APOB, CTSK, JAK2, AKT1, PIK3CA

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LOEYS-DIETZ SYNDROME 1, {PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, LOWE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENKES DISEASE, PERIODIC FEVER, FAMILIAL, ANDROGEN INSENSITIVITY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, IMMUNODEFICIENCY 43, C2 DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LOEYS-DIETZ SYNDROME 3, YUNIS-VARON SYNDROME, OCCIPITAL HORN SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PYCNODYSOSTOSIS, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, PROTEUS SYNDROME, SOMATIC

LCK, CTSK, ECHS1, B2M, CASP8, SMAD4, AR, NTRK1, ATP7A, SPTLC1, SLC9A6, TUBB, HLA-B, HRAS, AKT1, CBL, C2, IFNG, CLASP1, TGFBR1, TNFRSF1A, HLA-C, OCRL, SMAD3, CREBBP, FIG4

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BARAITSER-WINTER SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, BJORNSTAD SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, ACNE INVERSA, FAMILIAL, 3, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, ANDROGEN INSENSITIVITY, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, MARFAN LIPODYSTROPHY SYNDROME, PERIODIC FEVER, FAMILIAL, OTOPALATODIGITAL SYNDROME, TYPE I, METHEMOGLOBINEMIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, MYOTONIC DYSTROPHY 1, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 102, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 3, ACROMICRIC DYSPLASIA, 46XY SEX REVERSAL 6, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, HYPOPHOSPHATASIA, INFANTILE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, APERT SYNDROME, TUBEROUS SCLEROSIS 2, SMITH-LEMLI-OPITZ SYNDROME, EPIDERMAL NEVUS, HYPERTHYROIDISM, NONAUTOIMMUNE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, INSOMNIA, FATAL FAMILIAL, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

PEX5, TSC2, NME1, DDX3X, PLEC, CDK5, FGFR2, CASP8, MAP3K1, AR, DHCR7, PRNP, ABCB6, PSEN1, MYO5A, LMNB1, FLNA, MTOR, CYB5A, BCS1L, ALB, AKT1, KRAS, DSP, LRPPRC, FBN1, ALPL, TNFRSF1A, TMEM173, GJA1, TSHR, HK1, ACTB, CYB5R3, SMAD3, NR3C1, SMC3, NDUFS3, DMPK

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, ATROPHODERMA VERMICULATUM, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HEMOPHILIA A, NOONAN SYNDROME 4, OMODYSPLASIA 1, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LYMPHEDEMA, HEREDITARY, IA, PAPILLORENAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, FUHRMANN SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, ADAMS-OLIVER SYNDROME 5, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, TUBEROUS SCLEROSIS 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, BRACHYDACTYLY, TYPE B1, WAARDENBURG SYNDROME, TYPE 4C, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

SERPINC1, F2, APOB, WNT7A, COL1A1, FLT4, WNT5A, PROS1, PAX2, MMP2, LRP1, LEP, STAT3, F8, EDA, BMP2, NOTCH1, AKT1, GPC6, SOX10, PROC, IFNG, MMP1, GPC3, SOS1, ROR2, EGFR, WNT4, NGF, HSPG2, EXT2, CTNNB1, PTEN

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, BRACHYDACTYLY, TYPE A1, D, PROPIONICACIDEMIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, PARAGANGLIOMAS 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, GLASS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, SHORT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 38, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MELNICK-NEEDLES SYNDROME, COCKAYNE SYNDROME, TYPE B, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MEIER-GORLIN SYNDROME 1, CLOVE SYNDROME, SOMATIC, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 8, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), DARIER DISEASE, LEOPARD SYNDROME 3, HYPER-IGE RECURRENT INFECTION SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CORNELIA DE LANGE SYNDROME 5, NOONAN SYNDROME 9, MANDIBULOACRAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, COCKAYNE SYNDROME, TYPE A, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, GIANT AXONAL NEUROPATHY-1, JOHANSON-BLIZZARD SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, JOUBERT SYNDROME 10, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, PEUTZ-JEGHERS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, NIJMEGEN BREAKAGE SYNDROME, LOEYS-DIETZ SYNDROME 3, EHLERS-DANLOS SYNDROME, TYPE 3, FILS SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, TIETZ ALBINISM-DEAFNESS SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, LIMB-MAMMARY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BARAITSER-WINTER SYNDROME 1, HAY-WELLS SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, UV-SENSITIVE SYNDROME 1, RIDDLE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, WAARDENBURG SYNDROME, TYPE 2A, WOODHOUSE-SAKATI SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BJORNSTAD SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, 3-M SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, WEAVER SYNDROME, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OCULOECTODERMAL SYNDROME, ATAXIA-TELANGIECTASIA, TRICHOHEPATOENTERIC SYNDROME 1, {MELANOMA, CUTANEOUS MALIGNANT, 3}, HYPOTRICHOSIS 11, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, IMMUNODEFICIENCY 14, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, NON-IMMUNE HYDROPS FETALIS, NOONAN SYNDROME 10, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WIEDEMANN-STEINER SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, UV-SENSITIVE SYNDROME 2, RESTRICTIVE DERMOPATHY, LETHAL, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, GENITOPATELLAR SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, NICOLAIDES-BARAITSER SYNDROME, PERLMAN SYNDROME, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, POROKERATOSIS 3, MULTIPLE TYPES, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, OGDEN SYNDROME, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PARIETAL FORAMINA 1, CEREBELLOFACIODENTAL SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, PHYTANIC ACID STORAGE DISEASE, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, ANDROGEN INSENSITIVITY, ERYTHROCYTOSIS, FAMILIAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OROFACIODIGITAL SYNDROME I, HUTCHINSON-GILFORD PROGERIA, ADULT SYNDROME, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LOEYS-DIETZ SYNDROME 4, DYSAUTONOMIA, FAMILIAL, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, MYHRE SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PARAGANGLIOMAS 4, XERODERMA PIGMENTOSUM, GROUP B, ?MICROPHTHALMIA, SYNDROMIC 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, KABUKI SYNDROME 1, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ACROKERATOSIS VERRUCIFORMIS, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, PEX14, CYBA, SNRPE, APOB, DIS3L2, NAA10, PRKACA, ACTB, PIGT, IKBKG, FTL, EGFR, MYO5A, PPARG, CDK5, PPP1R3A, PRKAR1A, DNAH14, GAN, RECQL4, CTNNB1, KDM6A, KMT2A, STK11, PLG, CDKN2A, ENG, SDHA, DST, RAB7A, TGFBR1, PEX7, NDUFB11, NDUFS8, PIK3CA, NBN, SOS1, AR, EFEMP2, ERCC2, MEFV, PEX2, TGFBR2, NDUFA12, CREBBP, RBCK1, PRKACG, CUL7, SF3B4, MITF, PCNT, SHOC2, NF2, TGFB2, ACVR1, KRAS, RUNX1, CASP8, HLA-C, LZTR1, ISG15, WRN, NOTCH1, THRA, ERCC3, TTC37, MTOR, SDHC, SDHB, TAF6, MECP2, PIK3CD, BAP1, NR0B1, MSX2, ESR1, CBL, SMARCE1, IKBKAP, NFKBIA, KAT6B, NCF2, TAF1, RBPJ, TNFRSF1A, OCLN, NDUFA9, SART3, MYH3, PCNA, TP63, ERCC8, NDUFV1, NDUFA10, SMC3, NDUFS7, PCCB, SOS2, GATA1, NCF1, MEN1, UBE2A, KCNN4, SMARCA2, SMAD4, SDHD, CLASP1, UBR1, STAT1, FLNA, NDUFS4, NFKB2, VHL, BCS1L, BMP2, NDUFA2, BRCA1, AKT1, KMT2C, SMARCB1, KANSL1, VDR, CYBB, WAS, GFI1B, UBE3A, POLG, EZH2, GLI3, POLD1, CDK4, MCM4, CDKN1C, ORC1, PTEN, MT-ND3, EPOR, POLA1, PFKM, NDUFS3, CUL4B, PIGA, SPTLC2, MSH2, NGF, HDAC8, PIGC, HNRNPK, RNF168, NR3C1, DPM1, CASP10, ABCB6, NR5A1, PTPN11, ATM, LMNA, KMT2D, BRF1, BMPR1B, SPTLC1, NFKB1, STAT3, MAP3K1, CACNA1C, INSR, MED25, AKT3, POLE, BLM, BRAF, SUCLG1, OFD1, MT-ND5, ERCC6, HRAS, FASLG, CNBP, AGPAT2, SMAD3, PPP1R15B, ATP2A2, TSC1, DCAF17, SATB2, PIK3R1

ATROPHODERMA VERMICULATUM, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, HYPER-IGE RECURRENT INFECTION SYNDROME, SELECTIVE T-CELL DEFECT, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, KERATOSIS PALMOPLANTARIS STRIATA I, AD, ACRODERMATITIS ENTEROPATHICA, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, CARASIL SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, POROKERATOSIS 3, MULTIPLE TYPES, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?REYNOLDS SYNDROME, MANDIBULOACRAL DYSPLASIA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, MEND SYNDROME, OCCIPITAL HORN SYNDROME, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, HAJDU-CHENEY SYNDROME, SPHEROCYTOSIS, TYPE 4, ?GLYCOPROTEIN IA DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, NAXOS DISEASE, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ANGELMAN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PRADER-WILLI SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HAY-WELLS SYNDROME, BRACHYDACTYLY, TYPE A1, WAARDENBURG SYNDROME, TYPE 4C, LYSYL HYDROXYLASE 3 DEFICIENCY, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, KAHRIZI SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, GLYCOGEN STORAGE DISEASE IA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, WARBURG MICRO SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, TUBEROUS SCLEROSIS-1, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, NAIL-PATELLA SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MENKES DISEASE, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, LATERAL MENINGOCELE SYNDROME, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MARFAN LIPODYSTROPHY SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, COLE DISEASE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, GLUTAMINE DEFICIENCY, CONGENITAL, GLUCOCORTICOID DEFICIENCY 2, DONNAI-BARROW SYNDROME, CHIME SYNDROME, MYOTONIC DYSTROPHY 1, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, STORMORKEN SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, EPIDERMOLYTIC HYPERKERATOSIS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, SHPRINTZEN-GOLDBERG SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, GM1-GANGLIOSIDOSIS, TYPE I, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, HEMOCHROMATOSIS, TYPE 2B, LYMPHEDEMA, HEREDITARY, ID, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, HEMOPHILIA A, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, {MELANOMA, CUTANEOUS MALIGNANT, 3}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, LEGIUS SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, CORTISONE REDUCTASE DEFICIENCY 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, CRIGLER-NAJJAR SYNDROME, TYPE I, ARTHROGRYPOSIS, DISTAL, TYPE 8, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ACNE INVERSA, FAMILIAL, 1, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ESTROGEN RESISTANCE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, DESBUQUOIS DYSPLASIA 2, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, ELLIS-VAN CREVELD SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ?IMMUNODEFICIENCY 22, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ROBINOW SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ICHTHYOSIS, X-LINKED, DUBIN-JOHNSON SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYALINE FIBROMATOSIS SYNDROME, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, SECKEL SYNDROME 1, GELEOPHYSIC DYSPLASIA 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, GALLBLADDER DISEASE 1, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, TUMOR PREDISPOSITION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, GRISCELLI SYNDROME, TYPE 2, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, DIAMOND-BLACKFAN ANEMIA 1, SJOGREN-LARSSON SYNDROME, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, PCWH SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, BRUCK SYNDROME 1, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, IMMUNODEFICIENCY 43, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, LEPRECHAUNISM, MECKEL SYNDROME 10, ?THROMBOXANE SYNTHASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PHELAN-MCDERMID SYNDROME, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FILS SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, CORNELIA DE LANGE SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, LIMB-MAMMARY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, 3-M SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA IIA, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, HARTNUP DISORDER, CHILBLAIN LUPUS, TYLOSIS WITH ESOPHAGEAL CANCER, LOEYS-DIETZ SYNDROME 1, GALACTOSE EPIMERASE DEFICIENCY, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, BRACHYDACTYLY, TYPE A1, D, MYHRE SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ACROMICRIC DYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, PALLISTER-HALL SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, HYPERLIPOPROTEINEMIA, TYPE 1D, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, LYSINURIC PROTEIN INTOLERANCE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, GLUCOCORTICOID RESISTANCE, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, TRANSALDOLASE DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, GRISCELLI SYNDROME, TYPE 1, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ACNE INVERSA, FAMILIAL, 2, LYMPHEDEMA, HEREDITARY, III, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, PETERS-PLUS SYNDROME, ACNE INVERSA, FAMILIAL, 3, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, ADULT SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, FOCAL FACIAL DERMAL DYSPLASIA 4, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, DIGITAL CLUBBING, ISOLATED CONGENITAL, METHEMOGLOBINEMIA, TYPE IV, RUBINSTEIN-TAYBI SYNDROME, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PREMATURE OVARIAN FAILURE 7, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, URBACH-WIETHE DISEASE, BRUCK SYNDROME 2, ADAMS-OLIVER SYNDROME 3, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XI, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, TRIGONOCEPHALY 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, WAARDENBURG SYNDROME, TYPE 2A, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HAILEY-HAILEY DISEASE, CRIGLER-NAJJAR SYNDROME, TYPE II, CORNELIA DE LANGE SYNDROME 4, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), HERMANSKY-PUDLAK SYNDROME 9, NEUROFIBROMATOSIS, TYPE 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 10, CHILD SYNDROME, DARIER DISEASE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPERTHYROIDISM, NONAUTOIMMUNE, VOHWINKEL SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ADERMATOGLYPHIA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, GLYCOGEN STORAGE DISEASE XI, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, RENPENNING SYNDROME, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, 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, TIETZ ALBINISM-DEAFNESS SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, TRICHOHEPATOENTERIC SYNDROME 2, ACROKERATOSIS VERRUCIFORMIS, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TSC2, EDNRA, PROS1, PDE4D, GP1BA, LBR, GNAS, TBXA2R, KRIT1, ENPP1, ALG3, NSDHL, B2M, DST, ITGA3, RAB7A, SEC23A, G6PC, ARSE, CYB5R3, CREBBP, SLC6A19, EVC, NF2, APOA1, HAMP, AR, SHMT1, MTOR, LEP, ALG11, PIK3CD, NR0B1, CBL, SMARCE1, NR1I3, JAK2, CYP4F22, VPS33B, VEGFC, TP63, TYK2, SMC3, MAN1B1, BANF1, ALDOA, CTNNB1, XYLT2, DVL3, TMCO1, MRAP, GPIHBP1, GDF2, PQBP1, TUBB, AKT1, TPI1, LRPPRC, HDAC8, UBE3A, ABCB4, EZH2, GLI3, EFNB1, SPINK5, NOD2, SART3, PIGN, SLC2A1, MASP1, HNRNPK, PIGA, PIGL, PTPN11, CXCR4, MAPRE2, DMPK, P2RY12, HLA-B, PDGFRB, PTPRC, ZMPSTE24, BDNF, ADAM17, CTNS, HLA-C, KRT1, TSC1, TAP2, HPGD, UGT1A1, GJB6, TREX1, APOB, MMP1, ACTB, PSEN1, B3GLCT, PTDSS1, ITGA2B, G6PC3, NPR2, POLE, PRF1, DLL4, ADAR, HSD11B1, CD81, SF3B4, TGFBR2, SHOC2, MMP2, FOXL2, TFAP2A, CYP7B1, NME1, NOTCH1, SMAD9, CYB5A, MSX2, B9D2, SPRED1, JUP, MEN1, BAP1, STS, FGF23, STAT3, BRAF, NCF1, STIM1, COL18A1, ALPL, UBE2A, FOLR1, PSENEN, RASA1, FLT4, CBS, KLC2, ALDH3A2, BMP2, HRAS, NDN, SMC1A, VDR, FGFR1, LRP2, CASP8, PSTPIP1, HK1, ITGA6, KIT, OCLN, SPTLC2, HTRA1, CYBB, SLC12A6, P2RX1, JAGN1, NR5A1, CLDN1, SLC39A4, SRD5A2, SPTLC1, F8, CACNA1C, PLG, CERS3, PCNA, PEX16, SMAD3, HSPG2, ESR1, DDX58, SKIV2L, ATIC, LMNA, F2, RAD21, FAS, IKBKG, CYBA, CDK5, PIGC, STK11, SLC37A4, PNPLA2, PIK3CA, UGT1A4, CYP26C1, ECM1, RBPJ, FKBP10, GRIP1, MYOM1, PLEC, RUNX1, DSP, ELN, EGFR, LZTR1, NCSTN, IGF2, NOTCH2, SNAP29, EDA, MOGS, COL1A2, ITGA2, MSMO1, ABCA1, PLOD1, PLOD3, EBP, TALDO1, ATL1, FKBP14, TMEM173, TBX3, TSHR, ATP8B1, RPS6KA3, STAMBP, ACD, SLCO1B1, PFKM, DDX3X, KCNN4, SHANK3, PAX2, LMX1B, STAT1, TBC1D20, RORC, VHL, BCS1L, TNFRSF1A, NR3C1, ATL3, NGF, ITPR2, FBN1, IHH, KISS1R, PIGO, RPS19, PTEN, ABCD3, BTK, SERPINC1, SLC40A1, PRKCD, RHBDF2, DPM1, PTRF, SLCO1B3, ATP7A, ITGB4, WAS, SOS1, PLOD2, PIGV, RET, EDNRB, CDK4, AGPAT2, ZAP70, IRF6, TINF2, KIF1BP, SMARCAD1, CAV1, COL1A1, ST14, SRD5A3, PIGT, TAP1, ITGB3, RAB27A, MYO5A, PPARG, OCA2, PRKAR1A, ALB, DSG1, SOX10, CDKN2A, CLASP1, BLOC1S6, XYLT1, SMAD4, POU1F1, ABCC2, MITF, PTCH1, SMARCA2, KRAS, LYST, GLUL, LMNB1, LRP1, EVC2, ATP2A2, IFNG, ATP2C1, TGFBR1, SLC4A1, AP1S1, CUL7, NOTCH3, SLC7A7, SEC23B, GALNT14, GPC3, GJA1, SOX9, MYH3, SLC9A6, LDHA, VWF, MC2R, ANKLE2, CHRNA1, FOXP3, GNAQ, GALE, DTNBP1, LDLR, DOLK, PIEZO1, ABCC6, ARSB, CHRM3, TAPBP, PAH, SUMF1, LCK, FLNA, FZD6, GJB2, ATR, DHCR7, PRNP, GLB1, NFKB1, EXT2, PRKACA, INSR, CEP57, ANTXR2, DPAGT1, MTRR, TBXAS1, FASLG, MPDU1, GNRH1, MYH11, BMPR1B, HSD3B7, HFE, PIK3R1

BARAITSER-WINTER SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MYOTONIC DYSTROPHY 1, WAARDENBURG SYNDROME, TYPE 4A, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BLAU SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, HUTCHINSON-GILFORD PROGERIA, MEIER-GORLIN SYNDROME 1, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ?REYNOLDS SYNDROME, GLYCOGEN STORAGE DISEASE XII, BLEEDING DISORDER, PLATELET-TYPE, 17, PSEUDOHYPOPARATHYROIDISM IA, ACNE INVERSA, FAMILIAL, 3, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IC, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, INCONTINENTIA PIGMENTI, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MISMATCH REPAIR CANCER SYNDROME, IMMUNODEFICIENCY 43, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, EHLERS-DANLOS SYNDROME, TYPE 3, LOEYS-DIETZ SYNDROME 3, TEMPLE-BARAITSER SYNDROME, ADAMS-OLIVER SYNDROME 3, COFFIN-SIRIS SYNDROME 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, PRADER-WILLI SYNDROME, KOOLEN-DE VRIES SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, ROBINOW SYNDROME, BRACHYDACTYLY, TYPE A1, D, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, WAARDENBURG SYNDROME, TYPE 2A, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, CORNELIA DE LANGE SYNDROME 3, NESTOR-GUILLERMO PROGERIA SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CORNELIA DE LANGE SYNDROME 4, {MELANOMA, CUTANEOUS MALIGNANT, 3}, IMMUNODEFICIENCY 14, WARBURG MICRO SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WIEDEMANN-STEINER SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, ESTROGEN RESISTANCE, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?PRUNE BELLY SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ANDROGEN INSENSITIVITY, MUIR-TORRE SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, TIETZ ALBINISM-DEAFNESS SYNDROME, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, PLEC, SMAD3, JAGN1, CAV1, PPARG, NGF, CDK5, PRKCD, DSP, DHCR7, RAD21, KCNH1, DVL3, UBE2A, LBR, BANF1, GNAS, IKBKG, PSEN1, ATM, MC2R, LMNB2, ALDOA, MLH1, TBC1D20, DMPK, EDNRA, CHRM3, ORC1, LEMD3, LMNA, HRAS, PIK3CD, NDN, ALB, SMC1A, BMP2, CERS3, SMARCB1, KANSL1, ESR1, B2M, CREBBP, BRCA1, LRPPRC, GNAQ, DST, AR, ZMPSTE24, AAAS, LMNB1, TAF1, AKT1, EDNRB, EGFR, CDK4, GFI1B, TSHR, GNRH1, ACTB, MITF, ZAP70, PCNA, BMPR1B, NOD2, RBPJ, NOTCH1, SMC3, KRIT1, MTOR

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ATROPHODERMA VERMICULATUM, REVESZ SYNDROME, ACNE INVERSA, FAMILIAL, 3, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PROLIDASE DEFICIENCY, SHORT SYNDROME, MENTAL RETARDATION, X-LINKED 102, HEMOCHROMATOSIS, TYPE 4, SELECTIVE T-CELL DEFECT, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, WAARDENBURG SYNDROME, TYPE 4A, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MELNICK-NEEDLES SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY 14, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 2, ACRODERMATITIS ENTEROPATHICA, ALBINISM, OCULOCUTANEOUS, TYPE IA, BLAU SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ARTHROGRYPOSIS, DISTAL, TYPE 8, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HERMANSKY-PUDLAK SYNDROME 1, AGAMMAGLOBULINEMIA, X-LINKED 1, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, LOEYS-DIETZ SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE III, GLYCOGEN STORAGE DISEASE XII, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, ESTROGEN RESISTANCE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, LOWE SYNDROME, HERMANSKY-PUDLAK SYNDROME 9, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, ADULT SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DUBIN-JOHNSON SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, LEOPARD SYNDROME 1, OCCIPITAL HORN SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, 46XY SEX REVERSAL 6, RETICULATE ACROPIGMENTATION OF KITAMURA, MENKES DISEASE, 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, HYPOCHONDROPLASIA, IMMUNODEFICIENCY 43, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PYRUVATE KINASE DEFICIENCY, C2 DEFICIENCY, PEELING SKIN SYNDROME 4, NAXOS DISEASE, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, OSTEOGENESIS IMPERFECTA, TYPE I, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MYHRE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, TIETZ ALBINISM-DEAFNESS SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MUCOPOLYSACCHARIDOSIS IH, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, BARAITSER-WINTER SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SADDAN, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HAY-WELLS SYNDROME, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, WAARDENBURG SYNDROME, TYPE 2A, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, AL-RAQAD SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, NIEMANN-PICK DISEASE, TYPE A, TIMOTHY SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CORNELIA DE LANGE SYNDROME 4, ATAXIA-TELANGIECTASIA, ACNE INVERSA, FAMILIAL, 1, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, WARBURG MICRO SYNDROME 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, GRISCELLI SYNDROME, TYPE 2, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, BIRT-HOGG-DUBE SYNDROME, ALAGILLE SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RENPENNING SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, PEUTZ-JEGHERS SYNDROME, MUENKE SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, TANGIER DISEASE, WAARDENBURG SYNDROME, TYPE 1, DARIER DISEASE, HEMOCHROMATOSIS TYPE 1, AMYOTROPHY, HEREDITARY NEURALGIC, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HYPERTHYROIDISM, NONAUTOIMMUNE, TUBEROUS SCLEROSIS-1, VOHWINKEL SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, WRINKLY SKIN SYNDROME, WAARDENBURG SYNDROME, TYPE 3, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, COWDEN SYNDROME 7, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?PRUNE BELLY SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, ROBINOW SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, INCONTINENTIA PIGMENTI, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, HAJDU-CHENEY SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, BRACHYDACTYLY, TYPE A1, D, ANDROGEN INSENSITIVITY, [SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN], ALBINISM, OCULOCUTANEOUS, TYPE VI, CARNEY COMPLEX, TYPE 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, GLANZMANN THROMBASTHENIA, OSTEOGENESIS IMPERFECTA, TYPE XVII, 3MC SYNDROME 1, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OLIGODONTIA-COLORECTAL CANCER SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, NEUROFIBROMATOSIS, TYPE 2, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS IH/S, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, NETHERTON SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LOEYS-DIETZ SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ACROKERATOSIS VERRUCIFORMIS, HEMOCHROMATOSIS, TYPE 2B, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, BRCA2, SEC23A, CAV1, EDNRA, APOB, PDE4D, COL1A1, ABCC2, RAD21, MAP3K1, ACTB, FAS, FERMT3, IKBKG, PSEN1, ALDOA, FTL, TYR, RAB27A, SEPT9, PPARG, CTNNB1, CDK5, PRKAR1A, ALB, ITGA2B, SMPD1, IDUA, SLC24A5, B2M, STK11, ENG, FOLR1, DST, KIF1B, RAB7A, PNPLA2, MMP1, NEU1, PIK3CA, MMP2, NOTCH1, PRF1, BLOC1S6, CD81, TGFBR2, PDGFRB, SMAD4, CREBBP, ECM1, OCRL, PRKACG, RBPJ, PEX5, PCNA, CSTA, NF2, GRIP1, ACVR1, KRAS, APOA1, CBL, ABCA12, EGFR, FLCN, ABCD3, AR, IGF2, FLT4, NOTCH2, GLUL, LRP1, PIGT, CIITA, MTOR, FGFR1, SNAP29, LEP, TBXA2R, PIK3CD, MSMO1, DMXL2, ABCA1, JAK2, ESR1, DSP, NCSTN, LMBRD1, C2, IFNG, DSC2, JUP, GNAS, SPARC, MEN1, F2, ATP6V0A2, TNFRSF1A, ATP6V1B2, TSHR, RAB18, VIPAS39, RPS6KA3, STAMBP, PKLR, SEC23B, TYRP1, MYO5A, VPS33B, DHFR, NCF1, TGFBR1, DDX3X, GJA1, IL2RA, SOX9, TGFB2, ADAR, DVL3, RASA1, VWF, KLC2, CHRM3, PFKM, FLNA, APC, NFKB2, PQBP1, TUBB, SLC9A6, BMP2, FOXP3, EDNRB, BRCA1, CASP8, AKT1, CYBA, RIPK4, GNAQ, LRPPRC, RUNX1, LDLR, GFI1B, UBE3A, FASLG, COG4, NCF2, LRP2, GJB2, EZH2, PRKCD, COL1A2, POLD1, JAG1, PSTPIP1, NOTCH3, MITF, EFNB1, PTEN, FGFR3, TFAP2A, HAMP, GNRH1, NOD2, BTK, ITGA6, KIT, STAT3, SPINK5, LCK, SLC2A1, SLC40A1, ZAP70, NGF, MASP1, ECE1, HNRNPK, PAX3, NR3C1, LAMC2, ADAM10, WAS, MYH3, NTRK1, SLC39A4, PTPN11, ATM, DTNBP1, ATP7A, AP3B1, BMPR1B, SPTLC1, STAT1, NFKB1, TP63, PRKACA, CACNA1C, INSR, PEPD, PLG, SOS1, CXCR4, FGFR2, PTPRC, TINF2, COL3A1, RAB3GAP1, PDGFRA, PCSK9, BDNF, CLASP1, DCPS, CTLA4, HPS1, HRAS, HLA-C, AXIN2, SFTPC, OCLN, MYH11, NPR2, ATP2A2, HSPG2, TSC1, ITGB3, CAST, KL, HFE, PIK3R1

PAPILLORENAL SYNDROME, BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, REVESZ SYNDROME, ACNE INVERSA, FAMILIAL, 3, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), PARAGANGLIOMAS 3, GLUTAMINE DEFICIENCY, CONGENITAL, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, GRISCELLI SYNDROME, TYPE 1, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOPHOSPHATASIA, INFANTILE, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, ?REYNOLDS SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, TRIGONOCEPHALY 1, ACROMICRIC DYSPLASIA, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, HAJDU-CHENEY SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, CUTIS LAXA, AUTOSOMAL DOMINANT 3, METHEMOGLOBINEMIA, TYPE IV, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PYRUVATE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ADAMS-OLIVER SYNDROME 3, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CYLINDROMATOSIS, FAMILIAL, BROOKE-SPIEGLER SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, BARAITSER-WINTER SYNDROME 1, HAY-WELLS SYNDROME, CEREBROTENDINOUS XANTHOMATOSIS, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BJORNSTAD SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, NESTOR-GUILLERMO PROGERIA SYNDROME, ATAXIA-TELANGIECTASIA, OTOPALATODIGITAL SYNDROME, TYPE I, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, DARIER DISEASE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPERTHYROIDISM, NONAUTOIMMUNE, SMITH-LEMLI-OPITZ SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46XY SEX REVERSAL 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, PERIODIC FEVER, FAMILIAL, GELEOPHYSIC DYSPLASIA 2, ANDROGEN INSENSITIVITY, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, GLUCOCORTICOID DEFICIENCY 4, ADULT SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, MARFAN LIPODYSTROPHY SYNDROME, PARAGANGLIOMAS 4, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, CPT II DEFICIENCY, LETHAL NEONATAL, CHEDIAK-HIGASHI SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SJOGREN-LARSSON SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ACROKERATOSIS VERRUCIFORMIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

UROD, PEX14, NDUFS8, CYB5A, APOB, CPT2, ACTB, LBR, CYP27A1, PSEN1, FTL, ITGB3, MYO5A, PPARG, CDK5, CTNNB1, COX10, NDUFB11, MPV17, MT-CO3, WNK1, CYP11B1, CYB5R3, SMAD4, RBPJ, PTCH1, SOX9, ABCA12, NDUFAF6, AR, LYST, PKLR, GLUL, MTOR, FGFR1, SDHC, LEP, NNT, MSMO1, ABCA1, TGFBR1, TNFRSF1A, TMEM173, ALPL, NDUFA9, TNNT2, SLC7A7, RPS6KA3, TP63, NDUFA10, CYLD, BANF1, DDX3X, GJA1, MT-ATP6, NDUFA12, SDHD, PAX2, KLC2, NDUFS7, BCS1L, ALDH3A2, NDUFA2, PPOX, NR3C1, AKT1, COQ2, ALDH18A1, EGFR, FBN1, COX15, CASP8, FECH, TSHR, HSPA9, HK1, PEX5, ECHS1, ABCD3, MT-ND3, NHP2, NDUFV1, NDUFS3, NME1, FLNA, SDHA, PRKCD, HCCS, ALB, DHCR7, PRNP, ABCB6, NR5A1, ATM, SPTLC1, MAP3K1, NOTCH2, NDUFS4, TINF2, SUCLG1, CPOX, GPX4, MT-ND5, POLG, COX7B, SMAD3, ATP2A2, SDHB, ATIC, C10orf2, ALAS2, SKIV2L, PIK3R1

ADAMS-OLIVER SYNDROME 5, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, COPROPORPHYRIA, HARDEROPORPHYRIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ROBERTS SYNDROME, WEAVER SYNDROME, MEIER-GORLIN SYNDROME 1, CORNELIA DE LANGE SYNDROME 3, HYPER-IGE RECURRENT INFECTION SYNDROME, CORNELIA DE LANGE SYNDROME 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, NICOLAIDES-BARAITSER SYNDROME, EMBERGER SYNDROME, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ANDROGEN INSENSITIVITY, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MISMATCH REPAIR CANCER SYNDROME, SHORT SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, COFFIN-SIRIS SYNDROME 2, COFFIN-SIRIS SYNDROME 4, LATERAL MENINGOCELE SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUIR-TORRE SYNDROME, BARAITSER-WINTER SYNDROME 1, NOONAN SYNDROME 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OPITZ-KAVEGGIA SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NIJMEGEN BREAKAGE SYNDROME, LOEYS-DIETZ SYNDROME 3, BOHRING-OPITZ SYNDROME, ADULT SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COFFIN-SIRIS SYNDROME 3, ESTROGEN RESISTANCE, WAARDENBURG SYNDROME, TYPE 3, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, PARIETAL FORAMINA 2, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LIMB-MAMMARY SYNDROME, POPLITEAL PTERYGIUM SYNDROME 1, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CRANIOSYNOSTOSIS 3, TUMOR PREDISPOSITION SYNDROME, AU-KLINE SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, COFFIN-SIRIS SYNDROME 1, SC PHOCOMELIA SYNDROME, CORNELIA DE LANGE SYNDROME 4, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FRONTONASAL DYSPLASIA 2, WIEDEMANN-STEINER SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMITH-KINGSMORE SYNDROME, WARSAW BREAKAGE SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, OHDO SYNDROME, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PROTEUS SYNDROME, SOMATIC

GATA1, TCF12, SOX9, ASXL1, MSH6, PPARG, SMARCA4, PRKCD, SMARCA2, HNRNPK, TFAP2A, RAD21, ARID1A, AR, UBE2A, DDX11, MECP2, MSX1, STAT1, PHOX2B, MTOR, NFKB1, STAT3, ORC1, BMP2, NOTCH1, PHF8, AKT1, LZTR1, CTNNB1, MSH2, VDR, ESR1, CREBBP, SMARCE1, DLX5, CDKN2A, FOXD3, MED12, ESCO2, CPOX, SOX18, RUNX1, PCNA, PAX3, PUS1, EZH2, TAF1, NBN, BAP1, SMARCB1, NOTCH3, GFI1B, ACTB, SMC1A, SMAD3, SMAD4, IRF6, TP63, CASP8, RBPJ, ALX4, SMC3, GATA2, PIK3R1

LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PARAGANGLIOMAS 3, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, PARAGANGLIOMAS 4

SDHD, SDHA, SDHB, SDHC

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SULFATASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRUCK SYNDROME 1, POPLITEAL PTERYGIUM SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA PRURIGINOSA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARASIL SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, IMMUNODEFICIENCY 43, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ADAMS-OLIVER SYNDROME 5, TOENAIL DYSTROPHY, ISOLATED, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ?GLYCOPROTEIN IA DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, FUHRMANN SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, EPIDERMOLYSIS BULLOSA, PRETIBIAL, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CORTISONE REDUCTASE DEFICIENCY 1, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSTEOGENESIS IMPERFECTA, TYPE XI, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, KNOBLOCH SYNDROME 1, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, WHIM SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, DARIER DISEASE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, ACROKERATOSIS VERRUCIFORMIS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, DU PAN SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, KOSAKI OVERGROWTH SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, TRANSIENT BULLOUS OF THE NEWBORN, ADAMS-OLIVER SYNDROME 4, PRADER-WILLI SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ICHTHYOSIS, X-LINKED, DOWLING-DEGOS DISEASE 4, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, HEMOPHILIA A, BRACHYDACTYLY, TYPE B1, PROTEUS SYNDROME, SOMATIC, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

SOX9, PAX2, GP1BA, CAV1, HTRA1, NGF, APOB, APOA1, PROC, SUFU, IRF6, FKBP10, ROR2, WNT7A, F8, FLT4, WNT5A, CIITA, VWF, PKLR, PPARG, CXCR4, ALDOA, APOA2, LRP1, COL6A1, COL11A1, GJA1, VHL, INSR, COL5A1, EDA, LEP, ESR1, COL3A1, ITGA2, WNT4, NDN, AKT1, BMP2, CBL, MMP2, SOX10, COL17A1, B2M, PLOD3, PLG, COL6A3, NAGLU, COL5A2, COL18A1, RUNX1, LDLR, ARSE, SPARC, COL6A2, TGFBR1, GP9, H6PD, COL4A1, PDGFRA, GDF5, F2, PTPN11, PTEN, FKBP14, COL1A2, EOGT, ARSB, STS, PDGFRB, MYH11, BDNF, ATP2A2, HSPG2, POGLUT1, STAT3, MSX2, ITGA6, NOTCH1, COL1A1, SUMF1, MTOR, COL7A1

BARAITSER-WINTER SYNDROME 1, JOUBERT SYNDROME 10, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 38, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, TRICHOHEPATOENTERIC SYNDROME 1, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, LOEYS-DIETZ SYNDROME 3, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, GIANT AXONAL NEUROPATHY-1, JOHANSON-BLIZZARD SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OCULOECTODERMAL SYNDROME, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, NIJMEGEN BREAKAGE SYNDROME, NOONAN SYNDROME 9, FILS SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2A, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, LIMB-MAMMARY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, UV-SENSITIVE SYNDROME 1, RIDDLE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, WOODHOUSE-SAKATI SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, 3-M SYNDROME 1, WEAVER SYNDROME, GRISCELLI SYNDROME, TYPE 1, KLEEFSTRA SYNDROME, NOONAN SYNDROME 4, ARTHROGRYPOSIS, DISTAL, TYPE 8, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, HYPOTRICHOSIS 11, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, IMMUNODEFICIENCY 14, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WIEDEMANN-STEINER SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, GENITOPATELLAR SYNDROME, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, PERLMAN SYNDROME, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, POROKERATOSIS 3, MULTIPLE TYPES, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, OGDEN SYNDROME, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TUBEROUS SCLEROSIS-1, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, UV-SENSITIVE SYNDROME 2, PARIETAL FORAMINA 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ANDROGEN INSENSITIVITY, ERYTHROCYTOSIS, FAMILIAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OROFACIODIGITAL SYNDROME I, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ADULT SYNDROME, NOONAN SYNDROME 7, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LOEYS-DIETZ SYNDROME 4, MEIER-GORLIN SYNDROME 1, MYOTONIC DYSTROPHY 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, ?MICROPHTHALMIA, SYNDROMIC 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, XERODERMA PIGMENTOSUM, GROUP D, AU-KLINE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC