SKIN NAILS AND HAIR

ATAXIA-TELANGIECTASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, UV-SENSITIVE SYNDROME 2, COCKAYNE SYNDROME, TYPE A, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, ADAMS-OLIVER SYNDROME 3, CEREBROOCULOFACIOSKELETAL SYNDROME 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP P, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SECKEL SYNDROME 1, AICARDI-GOUTIERES SYNDROME 3, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, XERODERMA PIGMENTOSUM, GROUP C, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, NIJMEGEN BREAKAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SECKEL SYNDROME 2, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, FILS SYNDROME, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP E, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, OMENN SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), COCKAYNE SYNDROME, TYPE B, XERODERMA PIGMENTOSUM, GROUP D, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, UV-SENSITIVE SYNDROME 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ADERMATOGLYPHIA

SMARCAD1, BRCA2, FANCM, FANCE, MUTYH, GTF2H5, XPC, CUL4B, WRN, ATM, DCLRE1C, MSH6, MLH1, BLM, RBBP8, POLD1, ERCC4, BRCA1, ERCC8, MSH2, AR, ERCC6, PCNA, PMS2, SLX4, ERCC3, RNASEH2C, NBN, POLE, MCM4, CDK4, FANCA, ERCC2, PTEN, XRCC4, ATR, ESR1, ERCC5, POLA1, RBPJ, FANCD2

ADAMS-OLIVER SYNDROME 5, BARAITSER-WINTER SYNDROME 1, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, OPITZ-KAVEGGIA SYNDROME, HYPER-IGE RECURRENT INFECTION 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, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SHORT SYNDROME, LOEYS-DIETZ SYNDROME 3, OCULOECTODERMAL SYNDROME, ANDROGEN INSENSITIVITY, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, MYOTONIC DYSTROPHY 1, EHLERS-DANLOS SYNDROME, TYPE 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, NOONAN SYNDROME 9, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, CLOVE SYNDROME, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CARDIOFACIOCUTANEOUS SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HAJDU-CHENEY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), PALLISTER-HALL SYNDROME, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, TUBEROUS SCLEROSIS 2, DARIER DISEASE, NEUROCUTANEOUS MELANOSIS, SOMATIC, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ACROKERATOSIS VERRUCIFORMIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, LATERAL MENINGOCELE SYNDROME, ROBINOW SYNDROME, RUBINSTEIN-TAYBI SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AU-KLINE SYNDROME, EPIDERMAL NEVUS, OHDO SYNDROME, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, AR, ITGB3, SMARCA4, NRAS, HNRNPK, MAP2K2, SMAD4, PTEN, NR3C1, DVL3, PIK3CA, NOTCH2, ATM, THRA, KRAS, F2, DMPK, PPARG, ESR1, PRKACA, NOTCH1, AKT3, ATP2A2, AKT1, CTNNB1, ITPR2, PLCD1, BRCA1, PLCG2, PIK3CD, SLC2A1, MED12, STAT1, MED13L, GATA2, GLI3, SOS1, HRAS, NOTCH3, ACTB, WNT4, SMAD3, CREBBP, ATR, STAT3, SOS2, PRKACG, MTOR, PIK3R1

BARAITSER-WINTER SYNDROME 1, ATROPHODERMA VERMICULATUM, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, WAARDENBURG SYNDROME, TYPE 4A, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA PRURIGINOSA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, LOEYS-DIETZ SYNDROME 2, ?REYNOLDS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LOEYS-DIETZ SYNDROME 3, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ADAMS-OLIVER SYNDROME 5, TOENAIL DYSTROPHY, ISOLATED, NOONAN SYNDROME 7, 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, LARSEN SYNDROME, OPITZ GBBB SYNDROME, TYPE I, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?GLYCOPROTEIN IA DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, AMELOGENESIS IMPERFECTA, TYPE IA, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, EPIDERMOLYSIS BULLOSA, PRETIBIAL, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, WAARDENBURG SYNDROME, TYPE 4C, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, NON-IMMUNE HYDROPS FETALIS, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, 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, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, PREMATURE AGING SYNDROME, PENTTINEN TYPE, TRANSIENT BULLOUS OF THE NEWBORN, LYMPHEDEMA, HEREDITARY, ID, GLANZMANN THROMBASTHENIA, OSTEOGENESIS IMPERFECTA, TYPE XVII, ERYTHROCYTOSIS, FAMILIAL, 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, THROMBOCYTOPENIA 5, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

SOX9, RASA1, PFKM, CAV1, TAF1, MYH11, CTNNB1, CDK5, PRKCD, CBL, COL1A1, BRAF, MTRR, PTEN, COL5A1, COL5A2, VWF, LBR, FLT4, AKT1, ITGB4, IGF2, COL3A1, PIK3CD, CXCR4, SOS2, MMP2, ITGB3, LAMC2, COL6A1, COL11A1, LAMB3, VHL, NEB, COL4A1, INSR, ESR1, HRAS, COL6A3, MTOR, ITGA2B, BMP2, PLG, TNNT2, SOX10, SOS1, COL17A1, GJA1, COL6A2, F2, AKT3, COL18A1, MID1, MYOM1, ITGA3, LRP2, SPARC, PDGFRA, TGFBR1, VEGFC, PIK3CA, HTRA1, EDNRB, ETV6, COL1A2, EGFR, LRP1, TGFBR2, EFNB1, ACTB, PDGFRB, SMAD3, ALB, HSPG2, LAMA3, STAT3, COL7A1, ITGA6, NOTCH1, FLNA, FLNB, TNXB, PIK3R1, ITGA2

HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, NOONAN SYNDROME 9, RUBINSTEIN-TAYBI SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, IMMUNODEFICIENCY 35, NOONAN SYNDROME 4, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, CEREBROOCULOFACIOSKELETAL SYNDROME 3, INCONTINENTIA PIGMENTI, HAJDU-CHENEY SYNDROME, 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, IMMUNODEFICIENCY 43, ANDROGEN INSENSITIVITY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, EPIDERMAL NEVUS, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, EVEN-PLUS SYNDROME, IMMUNODEFICIENCY 38, WHIM SYNDROME, 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, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CLOVE SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, AU-KLINE SYNDROME, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CEREBELLOFACIODENTAL SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, 46XY SEX REVERSAL 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, XERODERMA PIGMENTOSUM, GROUP D, SMITH-KINGSMORE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

PLIN1, GATA1, LCK, RASA1, NME1, MSH6, ZAP70, CTNNB1, RAB7A, CBL, HNRNPK, PTPRC, IFNG, PTEN, MAP3K1, ISG15, AKT3, CIITA, MMP2, NOTCH2, PIK3CD, CXCR4, STAT1, BRF1, IKBKG, NFKB2, NFKB1, PPARG, ESR1, IL10RB, TNFAIP3, HLA-B, MECP2, IL10RA, AKT1, NGF, BTK, B2M, PLCG2, ITGA6, DDX58, NFKBIA, EGFR, CLASP1, PRKACG, HLA-DQB1, PHF8, CASP8, TGFBR1, HLA-DQA1, PIK3CA, ERCC5, SOS1, AR, HLA-C, HSPA9, ERCC2, PRKACA, EFNB1, PDGFRB, SMAD3, CREBBP, NR3C1, STAT3, SOS2, TYK2, HRAS, RBPJ, JAK2, MTOR, PIK3R1

REVESZ SYNDROME, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LYMPHEDEMA, HEREDITARY, IA, IMMUNODEFICIENCY 38, BLAU SYNDROME, CARDIOFACIOCUTANEOUS 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ACNE INVERSA, FAMILIAL, 3, IMMUNODEFICIENCY 43, TRIGONOCEPHALY 1, IMMUNODEFICIENCY 35, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SINGLETON-MERTEN SYNDROME 1, CINCA SYNDROME, LOEYS-DIETZ SYNDROME 3, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, OSTEOGLOPHONIC DYSPLASIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, WHIM SYNDROME, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, TANGIER DISEASE, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, GLYCOGEN STORAGE DISEASE XI, INCONTINENTIA PIGMENTI, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ANDROGEN INSENSITIVITY, CARNEY COMPLEX, TYPE 1, BARAITSER-WINTER SYNDROME 1, XERODERMA PIGMENTOSUM, GROUP B, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, IMMUNODEFICIENCY, COMMON VARIABLE, 12, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, AU-KLINE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

GATA1, FASLG, APOB, ISG15, F2, ZAP70, SMARCA4, APOA1, CBL, MAP2K2, FAS, ADAR, PRF1, IFIH1, AR, NGF, FLT4, IKBKG, PSEN1, CXCR4, NOD2, STAT1, ERCC3, NLRC4, CIITA, GJA1, NFKB1, PPARG, ESR1, CDK5, PRKAR1A, PTPN11, AKT3, MTOR, AKT1, CTNNB1, BLM, NLRP3, B2M, FGFR1, PIK3CD, DDX58, PRKCD, NFKBIA, HLA-DQB1, CASP8, LDHA, HNRNPK, TGFBR1, HLA-DQA1, TGFB3, PIK3CA, HRAS, TINF2, EGFR, IFNG, ACTB, PDGFRB, SMAD3, CREBBP, TNFRSF1A, STAT3, BTK, TYK2, PLG, JAK2, TGFBR2, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, ATROPHODERMA VERMICULATUM, BARAITSER-WINTER SYNDROME 1, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, DYSAUTONOMIA, FAMILIAL, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, 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, 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, OLIGODONTIA-COLORECTAL CANCER SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY, COMMON VARIABLE, 10, EHLERS-DANLOS SYNDROME, TYPE 3, LOEYS-DIETZ SYNDROME 3, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, FILS SYNDROME, ANGELMAN SYNDROME, FUHRMANN SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, 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, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, TIETZ ALBINISM-DEAFNESS SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, BRACHYDACTYLY, TYPE A1, SCHOPF-SCHULZ-PASSARGE SYNDROME, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, WAARDENBURG SYNDROME, TYPE 2A, OSTEOGENESIS IMPERFECTA, TYPE I, EMBERGER SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, EPIDERMAL NEVUS, ACROCAPITOFEMORAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, AYME-GRIPP SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, 46XY SEX REVERSAL 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SECKEL SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, LYMPHEDEMA, HEREDITARY, ID, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ADULT SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, PALLISTER-HALL SYNDROME, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LOEYS-DIETZ SYNDROME 4, PREMATURE AGING SYNDROME, PENTTINEN TYPE, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

BRCA2, EZH2, CAV1, WNT5A, COL1A1, PRKACA, ACTB, GNAS, CIITA, COL1A2, FTL, PPARG, LEP, ALB, CDK4, B2M, WNT10A, CDKN2A, NOG, RAB7A, SMARCA4, PIK3CA, SOS1, PRF1, TGFBR2, CREBBP, PRKACG, IL2RG, PDGFRB, WNT7A, TGFB2, ACVR1, KRAS, RUNX1, HLA-DQA1, EGFR, WRN, NOTCH1, THRA, LRP1, GDNF, IKBKG, GATA2, FGFR1, EDA, TAF6, MECP2, PIK3CD, NFKBIA, MSX2, CBL, IKBKAP, JAK2, TGFBR1, TAF1, ROR2, IFNG, TP63, PTPRC, PAX8, GATA1, MEN1, ITGB3, CTNNB1, IL2RA, SMAD4, DVL3, VEGFC, PAX2, STAT1, TGFB3, SLC2A1, NFKB2, BMP2, FOXP3, TNFRSF1A, BRCA1, AKT1, NGF, AXIN2, HLA-DQB1, IHH, GLI3, POLD1, TERT, MITF, PTEN, MAF, ITGA6, PLG, LCK, NRAS, FLNA, ZAP70, FZD6, PAX3, NR3C1, MMP2, PTPN11, ATM, MSX1, NFKB1, STAT3, MAP3K1, INSR, HLA-B, AKT3, POLE, CXCR4, FGFR2, CD3G, PDGFRA, PCNA, APC, HRAS, HLA-C, WNT4, SMAD3, ADAM10, ATR, HSPG2, ESR1, SOS2, PORCN, MTOR, PIK3R1

LOEYS-DIETZ SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, OSTEOGLOPHONIC DYSPLASIA, PERIODIC FEVER, FAMILIAL, HYPER-IGE RECURRENT INFECTION SYNDROME, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 38, KOSAKI OVERGROWTH SYNDROME, BRACHYDACTYLY, TYPE B2, OCULOECTODERMAL SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, THROMBOCYTOPENIA 5, WHIM SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 14, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 35, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, NOONAN SYNDROME 9, TRANSALDOLASE DEFICIENCY, CLOVE SYNDROME, SOMATIC, NOONAN SYNDROME 7, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {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}, ESTROGEN RESISTANCE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, NOONAN SYNDROME 4, MULTIPLE SYNOSTOSES SYNDROME 1, TUBEROUS SCLEROSIS 2, LOEYS-DIETZ SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, SINGLETON-MERTEN SYNDROME 2, EPIDERMAL NEVUS, TRIGONOCEPHALY 1, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NRAS, ITGB3, NFKB1, CTNNB1, SMAD4, ISG15, ETV6, CIITA, PTPN11, CXCR4, STAT1, IKBKG, MTOR, PPARG, ESR1, CDK5, TNFRSF1A, PIK3CD, AKT1, CLDN1, KRAS, FGFR1, AKT3, DDX58, NOG, NFKBIA, PRF1, KIT, TALDO1, TGFBR1, PIK3CA, SOS1, HRAS, OCLN, EGFR, IFNG, PDGFRB, CREBBP, BRAF, STAT3, SOS2, TYK2, LDLR, CD81, JAK2, TGFBR2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PERIODIC FEVER, FAMILIAL, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, INCONTINENTIA PIGMENTI, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 38, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, 46XY SEX REVERSAL 6, SHORT SYNDROME, THROMBOCYTOPENIA 5, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, MYHRE SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, LOEYS-DIETZ SYNDROME 3, BLAU SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OCULOECTODERMAL SYNDROME, TUBEROUS SCLEROSIS 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, SINGLETON-MERTEN SYNDROME 2, EPIDERMAL NEVUS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LOEYS-DIETZ SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, COFFIN-SIRIS SYNDROME 4, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NRAS, ISG15, TGFB2, SMARCA4, CDK5, PRKCD, CASP8, SMAD4, PRF1, IFIH1, FAS, CASP10, IKBKG, ETV6, CXCR4, STAT1, TGFB3, DDX3X, NGF, MTOR, NFKB1, NOD2, MAP3K1, TNFRSF1A, PIK3CD, AKT1, NFKBIA, ESR1, AKT3, DDX58, JAK2, FASLG, PCNA, MAP2K2, TGFBR1, PIK3CA, CDK4, HRAS, EGFR, KRAS, IFNG, NLRP1, SMAD3, CREBBP, HAMP, HSPG2, STAT3, PTEN, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LOEYS-DIETZ SYNDROME 1, SHORT SYNDROME, AYME-GRIPP SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYPER-IGE RECURRENT INFECTION SYNDROME, OCULODENTODIGITAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, PERIODIC FEVER, FAMILIAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 43, MENTAL RETARDATION, X-LINKED 102, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, SINGLETON-MERTEN SYNDROME 1, GLUCOCORTICOID RESISTANCE, RUBINSTEIN-TAYBI SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, BLAU SYNDROME, CLOVE SYNDROME, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 17, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {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}, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TANGIER DISEASE, IMMUNODEFICIENCY 35, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, EPIDERMAL NEVUS, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, SMITH-KINGSMORE SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PROTEUS SYNDROME, SOMATIC

LCK, FASLG, PRF1, ISG15, DDX3X, APOB, GJA1, APOA1, B2M, CASP8, PTPRC, ADAR, CREBBP, IFIH1, FAS, PRKCD, PTPN11, CXCR4, STAT1, CD3G, MTOR, NFKB1, NOD2, CDK5, HLA-B, TNFRSF1A, AKT3, AKT1, JAK2, BTK, RUNX1, ESR1, CBL, BRCA1, PIK3CD, DDX58, IL2RA, NFKBIA, TNFAIP3, PCNA, TGFBR1, PIK3CA, CDK4, HRAS, FCGR2B, EGFR, GFI1B, IFNG, PDGFRB, NR3C1, MAF, STAT3, TYK2, IL2RG, TGFBR2, PIK3R1

STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, ATAXIA-TELANGIECTASIA, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SHORT SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, 46XY SEX REVERSAL 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?BLEEDING DISORDER, PLATELET-TYPE, 19, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, NOONAN SYNDROME 9, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, 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, TUBEROUS SCLEROSIS 2, OSSEOUS HETEROPLASIA, PROGRESSIVE, NEUROCUTANEOUS MELANOSIS, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, EPIDERMAL NEVUS, PSEUDOPSEUDOHYPOPARATHYROIDISM, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THROMBOCYTOPENIA 5, PSEUDOHYPOPARATHYROIDISM IA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

FSHB, MMP2, CTNNB1, CDK5, LHB, NRAS, MAP2K2, PRKACA, ETV6, GNAS, ATM, GNRHR, MTOR, EDNRA, MAP3K1, CACNA1C, BMP2, AKT1, GNAQ, ITPR2, PRKCD, IFNG, SOS1, HRAS, EGFR, KRAS, GNRH1, ECHS1, NR3C1, SOS2, PRKACG, PIK3R1

ADAMS-OLIVER SYNDROME 5, LOEYS-DIETZ SYNDROME 1, IMMUNODEFICIENCY 14, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PYRUVATE KINASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LEPRECHAUNISM, OCULOECTODERMAL SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, LOEYS-DIETZ SYNDROME 3, GLYCOGEN STORAGE DISEASE IA, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, NOONAN SYNDROME 9, CLOVE SYNDROME, SOMATIC, NOONAN SYNDROME 7, ANGELMAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, PEUTZ-JEGHERS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ESTROGEN RESISTANCE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, LEOPARD SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, IMMUNODEFICIENCY 35, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, NOONAN SYNDROME 4, TUBEROUS SCLEROSIS 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, EPIDERMAL NEVUS, AU-KLINE SYNDROME, RABSON-MENDENHALL SYNDROME, TUBEROUS SCLEROSIS-1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, TRIGONOCEPHALY 1, BLEEDING DISORDER, PLATELET-TYPE, 11, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

PLIN1, LCK, TSC2, TGFBR1, MYH11, NGF, PRKCD, NRAS, MAP2K2, PRKACA, ETV6, G6PC, PKLR, SOS2, MYO5A, LEP, PCK1, FGFR1, INSR, CDK5, PPP1R3A, PRKAR1A, NOTCH1, AKT3, AKT1, KRAS, G6PC3, ESR1, CBL, BRCA1, STK11, PIK3CD, JAK2, UBE3A, HNRNPK, GP6, PIK3CA, SOS1, HRAS, EGFR, PRKACG, HK1, SMAD3, CREBBP, BRAF, TSC1, ITPR2, TYK2, KIT, STAT3, SF3B4, MTOR, PIK3R1

HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LYMPHEDEMA, HEREDITARY, IA, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, TRICHOMEGALY, PSEUDOHYPOPARATHYROIDISM IA, ?RENAL HYPODYSPLASIA/APLASIA 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, ADAMS-OLIVER SYNDROME 5, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, HYPOCHONDROPLASIA, RETICULATE ACROPIGMENTATION OF KITAMURA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, ADAMS-OLIVER SYNDROME 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, MULTIPLE ENDOCRINE NEOPLASIA 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MUENKE SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, HEMOCHROMATOSIS TYPE 1, GLYCOGEN STORAGE DISEASE VII, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 11, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LYMPHEDEMA, HEREDITARY, ID, NEUROFIBROMATOSIS, TYPE 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, NOONAN SYNDROME 7, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOTONIC DYSTROPHY 2, TUMOR PREDISPOSITION SYNDROME, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, THROMBOCYTOPENIA 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, 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, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

LCK, FASLG, NCF1, RASA1, PFKM, FLNA, ZAP70, NGF, GJA1, PRKCD, NRAS, MAP2K2, GNRH1, CNBP, KITLG, NME1, FLT4, IKBKG, GNAS, PAX2, PIK3CD, CXCR4, SOS2, CHRM3, ALDOA, KRIT1, LEP, PAX8, MTOR, NFKB1, STAT3, CDK5, MEN1, INSR, PTPN11, AKT3, ECHS1, AKT1, BMP2, FGF20, KRAS, SOS1, ESR1, FGFR2, FGFR1, PLCG2, PLG, CDKN2A, FGF23, CBL, RUNX1, FGF3, NF1, PDGFRA, TGFBR1, BDNF, RAB7A, RET, FLNB, VEGFC, PIK3CA, PTEN, HRAS, ETV6, EGFR, JAG1, HSPA9, PRKACA, EFNB1, PDGFRB, FGFR3, SMAD4, NR3C1, GP6, BRAF, ACVR1, BAP1, PRKACG, NOTCH1, KIT, FGF5, RBPJ, ADAM10, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CARASIL SYNDROME, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ACNE INVERSA, FAMILIAL, 3, DIAPHANOSPONDYLODYSOSTOSIS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DU PAN SYNDROME, MISMATCH REPAIR CANCER SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FUHRMANN SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WAARDENBURG SYNDROME, TYPE 3, BRACHYDACTYLY, TYPE A1, D, BRACHYDACTYLY, TYPE A1, SCHOPF-SCHULZ-PASSARGE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, TRIGONOCEPHALY 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, TUBEROUS SCLEROSIS-1, ACROCAPITOFEMORAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, HAY-WELLS SYNDROME, MUIR-TORRE SYNDROME, MYHRE SYNDROME, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), ACROMICRIC DYSPLASIA, ADULT SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

SOX9, NF2, TGFBR1, TGFB2, HTRA1, NGF, AXIN2, WNT7A, COL1A1, SMAD4, NR3C1, DVL3, GDF6, PSEN1, TGFB3, FLNA, MLH1, VHL, ACVR1, CDK5, EDA, BMP2, PAX2, WNT10A, FZD6, AKT1, IHH, CTNNB1, ESR1, WNT5A, FGFR1, PLG, BRCA1, NOG, RUNX1, KIF1B, PSTPIP1, JUP, PCNA, FBN1, GDF5, GLI3, APC, PTEN, ROR2, COL1A2, EGFR, BMPER, HSPA9, GNRH1, ACTB, TGFBR2, SMAD3, PAX3, BMPR1B, TSC1, TP63, NOTCH1, STAT3, PORCN, WNT4

PREMATURE OVARIAN FAILURE 7, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, HYPER-IGE RECURRENT INFECTION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, OCULOECTODERMAL SYNDROME, SHORT SYNDROME, THROMBOCYTOPENIA 5, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, NOONAN SYNDROME 9, CLOVE SYNDROME, SOMATIC, CARDIOFACIOCUTANEOUS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, NEUROCUTANEOUS MELANOSIS, SOMATIC, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NRAS, CTNNB1, LHB, MAP2K2, NR5A1, IGF2, STAT1, KRAS, LEP, MTOR, NFKB1, ESR1, INSR, AKT3, AKT1, NGF, PIK3CD, PRKCD, JAK2, PIK3CA, SOS1, HRAS, ETV6, EGFR, TSHR, GNRH1, NR3C1, STAT3, SOS2, PIK3R1

INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, {PSORIASIS SUSCEPTIBILITY 1}, HYPER-IGE RECURRENT INFECTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ADAMS-OLIVER SYNDROME 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HAJDU-CHENEY SYNDROME, ANDROGEN INSENSITIVITY, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), SHORT SYNDROME, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?GLYCOPROTEIN IA DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, GLANZMANN THROMBASTHENIA, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LOEYS-DIETZ SYNDROME 3, MELNICK-NEEDLES SYNDROME, CLOVE SYNDROME, SOMATIC, 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, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, FRONTOMETAPHYSEAL DYSPLASIA, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, EPIDERMAL NEVUS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, LEOPARD SYNDROME 1, ?IMMUNODEFICIENCY 22, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

LCK, PRF1, AR, ITGB3, SMAD3, IL7R, IL2RA, CBL, IL31RA, GP9, GP1BA, FLT4, ZAP70, NOTCH2, GP1BB, F2, IL11RA, KITLG, LEP, HLA-B, PTPN11, ITGA2, IL1RN, ITGA2B, IFNG, CXCR4, B2M, PTPRC, CD3G, JAK2, ITGA3, FASLG, PCNA, MMP1, PIK3CA, AKT1, HLA-C, CD81, NHP2, MYH11, STAT3, FLNA, ITGA6, KIT, RBPJ, EPOR, PIK3R1

ATROPHODERMA VERMICULATUM, HYPER-IGE RECURRENT INFECTION SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, LOEYS-DIETZ SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, TRICHOMEGALY, RUBINSTEIN-TAYBI SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, ACNE INVERSA, FAMILIAL, 3, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, HYPOCHONDROPLASIA, IMMUNODEFICIENCY, COMMON VARIABLE, 10, EHLERS-DANLOS SYNDROME, TYPE 3, LOEYS-DIETZ SYNDROME 3, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, 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, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, LIMB-MAMMARY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HAY-WELLS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, TIMOTHY SYNDROME, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OTOPALATODIGITAL SYNDROME, TYPE I, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MUENKE SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS TYPE 1, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, NEUROFIBROMATOSIS, TYPE 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, GLYCOGEN STORAGE DISEASE XI, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, INCONTINENTIA PIGMENTI, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 12, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LYMPHEDEMA, HEREDITARY, ID, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, ADULT SYNDROME, NOONAN SYNDROME 7, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, FACTOR XIIIA DEFICIENCY, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, THROMBOCYTOPENIA 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LOEYS-DIETZ SYNDROME 4, 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, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, CAV1, FGFR1, WNT5A, LMNA, PRKACA, FAS, IKBKG, PSEN1, PPARG, CDK5, CDK4, GJA1, PLG, FGF3, RAB7A, PIK3CA, PDGFRB, CREBBP, PRKACG, TGFBR2, RASA1, DVL3, TGFB2, F13A1, KRAS, RUNX1, MAP2K2, NOTCH1, LRP1, EDNRA, LEP, MECOM, TGFBR1, FGFR3, VEGFC, TNFRSF1A, FGF23, PCNA, RPS6KA3, TP63, BRAF, SOS2, ITGB3, CTNNB1, SMAD4, LDHA, ETV6, PAX2, STAT1, TGFB3, NFKB2, BMP2, HRAS, BRCA1, AKT1, FASLG, HSPA9, NF1, ECHS1, STAT3, NRAS, FLNA, ZAP70, NGF, PRKCD, HNRNPK, ALB, NTRK1, ATM, NFKB1, ACVR1, MAP3K1, CACNA1C, INSR, AKT3, SOS1, FGFR2, PDGFRA, BDNF, PTEN, FGF20, EGFR, GNRH1, SMAD3, NR3C1, ESR1, FGF5, FLNB, PIK3R1

SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, TUBEROUS SCLEROSIS 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPIDERMAL NEVUS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 43, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?IMMUNODEFICIENCY 22, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {PSORIASIS SUSCEPTIBILITY 1}

LCK, FASLG, HLA-C, PIK3R1, IFNG, B2M, HLA-DQB1, HLA-B, PRF1, HLA-DQA1, FAS, PIK3CA, PTPN11

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, ATROPHODERMA VERMICULATUM, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SULFATASE DEFICIENCY, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, PEUTZ-JEGHERS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA PRURIGINOSA, BLAU SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, 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}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, POROKERATOSIS 7, MULTIPLE TYPES, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, WISKOTT-ALDRICH SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, TRICHOMEGALY, RUBINSTEIN-TAYBI SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, FUHRMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, RETICULATE ACROPIGMENTATION OF KITAMURA, 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, TOOTH AGENESIS, SELECTIVE, 4, ?GLYCOPROTEIN IA DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LOEYS-DIETZ SYNDROME 3, AMELOGENESIS IMPERFECTA, TYPE IA, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ADAMS-OLIVER SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, BEARE-STEVENSON CUTIS GYRATA SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, 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, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, ?RENAL HYPODYSPLASIA/APLASIA 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, BARAITSER-WINTER SYNDROME 1, HAY-WELLS SYNDROME, BRACHYDACTYLY, TYPE A1, WAARDENBURG SYNDROME, TYPE 4C, SCHOPF-SCHULZ-PASSARGE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ALAGILLE SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, MUENKE SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, LATERAL MENINGOCELE SYNDROME, ODONTOONYCHODERMAL DYSPLASIA, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, HYPOTRICHOSIS 8, PSEUDOHYPOPARATHYROIDISM IA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, EHLERS-DANLOS SYNDROME, TYPE 3, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, KOSAKI OVERGROWTH SYNDROME, BRACHYDACTYLY, TYPE B2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, TRANSIENT BULLOUS OF THE NEWBORN, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, LYMPHEDEMA, HEREDITARY, ID, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUIR-TORRE SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, ADULT SYNDROME, ERYTHROCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TUMOR PREDISPOSITION SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, FACTOR XIIIA DEFICIENCY, APERT SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, NEUROCUTANEOUS MELANOSIS, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, F2, FGFR1, WNT5A, COL1A1, ACTB, FAS, GNAS, IKBKG, PIK3CA, TBXA2R, FTL, TP63, PPARG, COL5A1, ITGA2B, FGF20, CTNNB1, G6PC3, KISS1R, STK11, WNT10A, NOG, FGF3, ITGA3, MMP1, G6PC, PRF1, COL6A3, JAG1, TGFBR2, TNXB, CREBBP, MVD, IL2RG, RBPJ, PDGFRB, ITGA2, WNT7A, TGFB2, F13A1, KRAS, RUNX1, MAP2K2, HAMP, COL6A2, IGF2, VWF, NOTCH1, LRP1, COL6A1, MTOR, EDNRA, LEP, GHR, PIK3CD, CBL, PLOD3, ITGA6, JAK2, TGFBR1, VEGFC, BAP1, NOTCH3, NLRP1, FGF23, PCNA, RPS6KA3, STAT3, LAMB3, COL7A1, ITGB3, GJA1, IL2RA, SHOC2, SMAD4, CDK5, FLT4, PAX2, COL17A1, STAT1, LAMA3, PCK1, SOX9, VHL, COL4A1, BMP2, HRAS, BRCA1, AKT1, MMP2, LPAR6, WAS, COL3A1, EGFR, IHH, COL1A2, CDK4, HSPA9, EFNB1, PTEN, FGFR3, ABCB11, NOD2, BTK, DLX5, PLG, KIT, SUMF1, LCK, NRAS, FLNA, SMAD3, NGF, PRKCD, IL7R, ALB, LAMC2, NR5A1, ITGB4, PTPN11, CXCR4, SOS2, COL11A1, NFKB1, ESR1, KITLG, INSR, COL5A2, AKT3, SOS1, MSH2, FGFR2, PDGFRA, BDNF, COL18A1, EDNRB, FASLG, GNRH1, EPOR, MYH11, ADAM10, NR3C1, HSPG2, TSC1, ATIC, FGF5, SOX10, PIK3R1

MULLERIAN APLASIA AND HYPERANDROGENISM, ATROPHODERMA VERMICULATUM, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, AICARDI-GOUTIERES SYNDROME 7, 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, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, KERATOSIS PALMOPLANTARIS STRIATA I, AD, CARASIL SYNDROME, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, {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}, DYSKERATOSIS CONGENITA, X-LINKED, DYSAUTONOMIA, FAMILIAL, POROKERATOSIS 3, MULTIPLE TYPES, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPER-IGE RECURRENT INFECTION SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, GLUCOCORTICOID DEFICIENCY 2, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MULTIPLE SYNOSTOSES SYNDROME 1, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?REYNOLDS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MUCKLE-WELLS SYNDROME, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, NEUROFIBROMATOSIS, FAMILIAL SPINAL, 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, C2 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, SPHEROCYTOSIS, TYPE 4, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, CRANIOFRONTONASAL DYSPLASIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, NAXOS DISEASE, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, 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, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA, PRETIBIAL, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, CRANIOSYNOSTOSIS 3, PRADER-WILLI SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, NEUROFIBROMATOSIS, TYPE 1, BRACHYDACTYLY, TYPE A1, WAARDENBURG SYNDROME, TYPE 4C, LYSYL HYDROXYLASE 3 DEFICIENCY, LOEYS-DIETZ SYNDROME 1, PARAGANGLIOMAS 3, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, NOONAN SYNDROME 4, 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, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, UV-SENSITIVE SYNDROME 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, MUENKE SYNDROME, OPITZ-KAVEGGIA SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, WAARDENBURG SYNDROME, TYPE 1, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTONASAL DYSPLASIA 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, TUBEROUS SCLEROSIS-1, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, VAN DEN ENDE-GUPTA SYNDROME, NAIL-PATELLA SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, BARBER-SAY SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HAY-WELLS SYNDROME, LATERAL MENINGOCELE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, TARP SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE XVII, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, HOLOPROSENCEPHALY-5, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, COCKAYNE SYNDROME, TYPE A, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BENT BONE DYSPLASIA SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, MYOTONIC DYSTROPHY 1, NIJMEGEN BREAKAGE SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CARNEY COMPLEX, TYPE 1, MELNICK-NEEDLES SYNDROME, WATSON SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, PACHYONYCHIA CONGENITA 2, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MEIER-GORLIN SYNDROME 1, OHDO SYNDROME, X-LINKED, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, FAMILIAL MEDITERRANEAN FEVER, AR, PYCNODYSOSTOSIS, ALBINISM, OCULOCUTANEOUS, TYPE III, KABUKI SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, 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, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, 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, TOOTH AGENESIS, SELECTIVE, 4, HEMOCHROMATOSIS, TYPE 2B, BROOKE-SPIEGLER SYNDROME, CINCA SYNDROME, SOTOS SYNDROME 1, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, WRINKLY SKIN SYNDROME, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COFFIN-SIRIS SYNDROME 3, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 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, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, CYLINDROMATOSIS, FAMILIAL, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CORTISONE REDUCTASE DEFICIENCY 2, 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, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, EVEN-PLUS SYNDROME, KNOBLOCH SYNDROME 1, CRIGLER-NAJJAR SYNDROME, TYPE I, ARTHROGRYPOSIS, DISTAL, TYPE 8, DIGEORGE SYNDROME, ACNE INVERSA, FAMILIAL, 1, 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, KINDLER SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ALAGILLE SYNDROME, BOHRING-OPITZ SYNDROME, NOONAN SYNDROME 10, ESTROGEN RESISTANCE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, BECKWITH-WIEDEMANN SYNDROME, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, HYPOTRICHOSIS 8, ICHTHYOSIS WITH CONFETTI, DUBIN-JOHNSON SYNDROME, C4A DEFICIENCY, CEREBELLOFACIODENTAL SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SECKEL SYNDROME 1, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, BRANCHIOOCULOFACIAL SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, COMPLEMENT FACTOR I DEFICIENCY, ULNAR-MAMMARY SYNDROME, POROKERATOSIS 7, MULTIPLE TYPES, 3MC SYNDROME 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, FUHRMANN SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, XERODERMA PIGMENTOSUM, GROUP D, LOEYS-DIETZ SYNDROME 4, SJOGREN-LARSSON SYNDROME, LEOPARD SYNDROME 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, COCKAYNE SYNDROME, TYPE B, 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, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PARIETAL FORAMINA 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, FRONTOMETAPHYSEAL DYSPLASIA, AMYOTROPHY, HEREDITARY NEURALGIC, LOEYS-DIETZ SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, IMMUNODEFICIENCY 43, PCWH SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, GIANT AXONAL NEUROPATHY-1, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PHELAN-MCDERMID SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 3, FILS SYNDROME, 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, HUNTER-THOMPSON TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, CORNELIA DE LANGE SYNDROME 2, 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, LIMB-MAMMARY SYNDROME, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, WISKOTT-ALDRICH SYNDROME, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, ODONTOONYCHODERMAL DYSPLASIA, EPIDERMOLYSIS BULLOSA PRURIGINOSA, PROUD SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, KOSAKI OVERGROWTH SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, ?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, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, BRACHYDACTYLY, TYPE A1, D, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ACROMICRIC DYSPLASIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, STEATOCYSTOMA MULTIPLEX, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, PALLISTER-HALL SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, PARAGANGLIOMAS 4, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, THROMBOCYTOPENIA 5, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, BRACHYDACTYLY, TYPE B1, IMMUNODEFICIENCY 9, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, LYMPHEDEMA, HEREDITARY, ID, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EMBERGER SYNDROME, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, HEPATIC LIPASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, GLUCOCORTICOID RESISTANCE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, TRANSALDOLASE DEFICIENCY, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, GRISCELLI SYNDROME, TYPE 1, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ACNE INVERSA, FAMILIAL, 2, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, PSEUDOHYPOPARATHYROIDISM IA, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ACNE INVERSA, FAMILIAL, 3, SMITH-LEMLI-OPITZ SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, ADULT SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, BIRT-HOGG-DUBE SYNDROME, ABLEPHARON-MACROSTOMIA SYNDROME, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, DIGITAL CLUBBING, ISOLATED CONGENITAL, MOWAT-WILSON SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, 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, ADAMS-OLIVER SYNDROME 3, ROTHMUND-THOMSON SYNDROME, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, UV-SENSITIVE SYNDROME 1, SCHOPF-SCHULZ-PASSARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 2A, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CRIGLER-NAJJAR SYNDROME, TYPE II, CORNELIA DE LANGE SYNDROME 4, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, CORNELIA DE LANGE SYNDROME 3, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), MYHRE SYNDROME, 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, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, DARIER DISEASE, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPERTHYROIDISM, NONAUTOIMMUNE, {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, BLEEDING DISORDER, PLATELET-TYPE, 17, 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, ANGIOEDEMA, HEREDITARY, TYPES I AND II, RENPENNING SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, 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, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, DIAMOND-BLACKFAN ANEMIA 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TIETZ ALBINISM-DEAFNESS SYNDROME, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ACROKERATOSIS VERRUCIFORMIS, KABUKI SYNDROME 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, 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, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TCF12, TSC2, MSH6, EDNRA, PDE4D, GP1BA, LBR, GNAS, CIITA, COL3A1, TYK2, FTL, KRIT1, DOCK7, SDHA, DNAH14, KDM6A, B2M, NOG, DST, ITGA3, FH, PHF8, SEC23A, HPGD, WNK1, GFI1B, CYB5R3, RAB7A, CREBBP, KMT2C, NF2, FGFR3, KL, APOA1, ISG15, THRA, C2, MTOR, TAF6, TNXB, PIK3CD, IFNG, CBL, SMARCE1, NR1I3, JAK2, CLEC7A, SHANK3, VPS33B, VEGFC, ROR2, KRAS, TNNT2, TP63, DEAF1, SMC3, GATA1, TBX1, BANF1, GP6, ALDOA, CTNNB1, IL2RA, NDUFS3, SUFU, NDUFA12, BCS1L, CTSK, ETV6, TAF1, MRAP, PDGFRB, LAMA3, GDF2, PQBP1, TUBB, AKT1, RIPK4, TPI1, PRKCD, UBE3A, IL17RA, EZH2, GLI3, RECQL4, FANCA, HSPA9, EFNB1, PEX5, XRCC4, HAMP, NOD2, SART3, POLA1, SLC2A1, MASP1, HNRNPK, LAMC2, COL5A2, CXCR4, DMPK, FGF5, HLA-B, HOXC13, WNT10A, SCARF2, LHB, PTPRC, GPX4, BDNF, ERCC6, ADAM17, LRP2, COX7B, PPP1R15B, ALB, TSC1, TAP2, SURF1, UGT1A1, PEX14, CYBA, APOB, MMP1, ACTB, PSEN1, ALPL, CYLD, PDE11A, ECHS1, ITGA2B, IL7R, NDUFS4, NDUFB11, GDF5, MT-CO3, NBN, PCNT, PRF1, MEFV, MITF, PSENEN, NRAS, HSD11B1, MVD, IKBKAP, IL2RG, CD81, SF3B4, TGFBR2, SOX9, TGFB2, MMP2, MAP2K2, HLA-C, TFAP2A, NME1, VWF, NOTCH1, ERCC3, CBS, FGFR1, MSX2, COL17A1, CARD9, MYOM1, RBM10, DSC2, JUP, LIPC, KAT6B, MEN1, GDNF, HOXA11, FGF23, STAT3, BRAF, SOS2, SRD5A2, NCF1, DPH1, MT-ATP6, ADAR, KRT5, RASA1, FLT4, SMAD9, KLC2, NFKB2, BMP2, ALDH3A2, HRAS, NDN, SMC1A, KANSL1, VDR, FOXP1, AXIN2, HLA-DQB1, NCF2, IL31RA, PSTPIP1, HK1, NF1, ABCB11, MAF, ITGA6, KIT, MT-ND3, NDUFV1, AR, HTRA1, CYBB, PAX3, KRT1, JAGN1, ASCL1, NR5A1, CLDN1, MSX1, KMT2D, DDX58, SPTLC1, SDHB, MAP3K1, CACNA1C, RFX5, PLG, LDLR, BLM, FCGR2B, PCSK9, PCNA, CTLA4, EPOR, SMAD3, HSPG2, NLRP3, SKI, SKIV2L, ATIC, LMNA, F2, TBXA2R, FSHB, RAD21, IFIH1, FAS, IKBKG, PLCD1, ATP6V1B2, SEPT9, LEP, CDK5, PPP1R3A, ERCC8, KMT2A, ZEB2, SOS1, NEB, STK11, FGF3, BCOR, PNPLA2, PIK3CA, PTPN11, UGT1A4, JAG1, SERPING1, ST14, ECM1, PRKACG, RBPJ, ADAM10, GRIP1, SMARCA4, RUNX1, DSP, TWIST2, EGFR, LZTR1, LPAR6, NCSTN, IGF2, NOTCH2, DCLRE1C, GATA2, CHRM3, SDHC, EDA, NTRK1, COL1A2, ITGA2, RFXAP, ABCA1, PLOD3, ORAI1, NFKBIA, ACP5, TALDO1, SPARC, PFKM, ERCC5, FKBP14, TMEM173, MLH1, NDUFA9, ESR1, RPS6KA3, WAS, AIRE, ALX4, TYRP1, SLCO1B1, COL7A1, ITGB3, DKC1, SMPD1, KCNN4, SDHD, GALNT3, PAX2, LMX1B, STAT1, RORC, VHL, IL10RB, TNFRSF1A, BRCA1, NR3C1, FZD6, ITPR2, FBN1, IHH, POLD1, KISS1R, TERT, TSHR, RPS19, PTEN, F13A1, BTK, SERPINC1, ASXL1, SMARCB1, HDAC8, KRT17, CASP10, MED25, TNFAIP3, COL11A1, ITGB4, ACVR1, KITLG, POLE, NDUFA10, SUCLG1, PLOD2, CLASP1, COL18A1, EDNRB, CDK4, KRT10, OCLN, ZAP70, IRF6, TINF2, FLNB, BRCA2, NEU1, CAV1, COL1A1, CNBP, ORC1, RAG1, PIGT, TAP1, DDX3X, TBX3, MYO5A, PPARG, COL5A1, PRKAR1A, GAN, DSG1, ELN, CDSN, SOX10, AKT3, CDKN2A, CASP8, NDUFS8, TGM1, EFEMP2, ERCC2, WNT4, SMAD4, POU1F1, HLA-DQA1, ATP6V0A2, DLL4, PTCH1, WNT7A, DVL3, APOA2, SETD5, FLCN, WRN, CPOX, LRP1, COL6A1, ATP2A2, PTCH2, MECOM, ABCC2, NR0B1, C4A, TPM2, COX4I2, TGFBR1, SLC4A1, NDUFA2, TNFRSF4, NOTCH3, NLRP1, FERMT1, RFXANK, SEC23B, NDUFS7, PAX8, PLIN1, GPC3, GJA1, SMARCA2, MYH3, COL4A1, LDHA, ZIC2, MECP2, MVK, TGFB3, NLRC4, APC, LAMB3, CHRNA1, FOXP3, IL1RN, GNAQ, WNT5A, DTNBP1, CFI, MED12, PHOX2B, CDKN1C, RAG2, ACVRL1, TAPBP, DLX5, SUMF1, ALOXE3, LCK, FLNA, NGF, HCCS, ATR, DHCR7, PRNP, ATM, BRF1, NSD1, NFKB1, FCGR2A, PRKACA, INSR, PKLR, IL10RA, MSH2, FGFR2, PLCG2, CD3G, PDGFRA, MT-ND5, RET, ARX, MTRR, FGF20, FASLG, GNRH1, NHP2, MYH11, BMPR1B, CHKB, HFE, PORCN, PIK3R1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, REVESZ SYNDROME, TANGIER DISEASE, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, HYPER-IGE RECURRENT INFECTION SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, MULTIPLE SULFATASE DEFICIENCY, COCKAYNE SYNDROME, TYPE A, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, [HISTIDINEMIA], ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HEPATIC LIPASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SINGLETON-MERTEN SYNDROME 2, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AMISH INFANTILE EPILEPSY SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, MYOTONIC DYSTROPHY 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, CHILD SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPEROXALURIA, PRIMARY, TYPE 1, WIEDEMANN-STEINER SYNDROME, MELNICK-NEEDLES SYNDROME, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, NESTOR-GUILLERMO PROGERIA SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, TRANSALDOLASE DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, EPIDERMAL NEVUS, EVEN-PLUS SYNDROME, HUTCHINSON-GILFORD PROGERIA, LESCH-NYHAN SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, FARBER LIPOGRANULOMATOSIS, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, LEOPARD SYNDROME 3, AGAMMAGLOBULINEMIA, X-LINKED 1, POROKERATOSIS 7, MULTIPLE TYPES, HYPOPHOSPHATASIA, INFANTILE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FUMARASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, ARGININOSUCCINIC ACIDURIA, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), ALBINISM, OCULOCUTANEOUS, TYPE III, GLYCOGEN STORAGE DISEASE XII, ?REYNOLDS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, OGDEN SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NEU-LAXOVA SYNDROME 2, COLE DISEASE, CHIME SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, GAUCHER DISEASE, PERINATAL LETHAL, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, GLANZMANN THROMBASTHENIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, MEND SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, ESTROGEN RESISTANCE, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ERYTHROCYTOSIS, FAMILIAL, 2, ?IMMUNODEFICIENCY 22, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?THROMBOXANE SYNTHASE DEFICIENCY, PYRUVATE KINASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, NAXOS DISEASE, DYSKERATOSIS CONGENITA, X-LINKED, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, FRONTOMETAPHYSEAL DYSPLASIA, GLUTAMINE DEFICIENCY, CONGENITAL, LOEYS-DIETZ SYNDROME 3, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, FILS SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, DOWLING-DEGOS DISEASE 1, MUCOPOLYSACCHARIDOSIS II, BEARE-STEVENSON CUTIS GYRATA SYNDROME, SMITH-KINGSMORE SYNDROME, COFFIN-SIRIS SYNDROME 3, CATEL-MANZKE SYNDROME, HAILEY-HAILEY DISEASE, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, CORTISONE REDUCTASE DEFICIENCY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, RABSON-MENDENHALL SYNDROME, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CEREBROTENDINOUS XANTHOMATOSIS, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, CORTISONE REDUCTASE DEFICIENCY 2, GAUCHER DISEASE, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, PARAGANGLIOMAS 3, BJORNSTAD SYNDROME, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, KLEEFSTRA SYNDROME, LOWE SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, GM1-GANGLIOSIDOSIS, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, OCULOECTODERMAL SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, FRUCTOSE INTOLERANCE, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, LEIOMYOMATOSIS AND RENAL CELL CANCER, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, WAARDENBURG SYNDROME, TYPE 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, NIEMANN-PICK DISEASE, TYPE A, MUCOPOLYSACCHARIDOSIS VII, RESTRICTIVE DERMOPATHY, LETHAL, APERT SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MUENKE SYNDROME, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, PROPIONICACIDEMIA, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, WAARDENBURG SYNDROME, TYPE 1, DESBUQUOIS DYSPLASIA 2, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, DARIER DISEASE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ATAXIA-TELANGIECTASIA, NEU-LAXOVA SYNDROME 1, CORNELIA DE LANGE SYNDROME 5, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, WRINKLY SKIN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPER-IGD SYNDROME, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, HYPOCHONDROPLASIA, BLEEDING DISORDER, PLATELET-TYPE, 17, ADERMATOGLYPHIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, FOCAL FACIAL DERMAL DYSPLASIA 4, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, GALACTOSE EPIMERASE DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, POROKERATOSIS 3, MULTIPLE TYPES, GLYCOGEN STORAGE DISEASE XI, PSEUDOHYPOPARATHYROIDISM IA, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, KOSAKI OVERGROWTH SYNDROME, UV-SENSITIVE SYNDROME 2, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, CPT II DEFICIENCY, LETHAL NEONATAL, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, INCONTINENTIA PIGMENTI, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, 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, BLOOM SYNDROME, PHYTANIC ACID STORAGE DISEASE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, POROKERATOSIS 1, MULTIPLE TYPES, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, SECKEL SYNDROME 1, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, WEAVER SYNDROME, IMMUNODEFICIENCY 38, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, ANDROGEN INSENSITIVITY, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MISMATCH REPAIR CANCER 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}, GLUCOCORTICOID DEFICIENCY 4, NOONAN SYNDROME 7, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, PREMATURE OVARIAN FAILURE 7, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, 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, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, SJOGREN-LARSSON SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, PARAGANGLIOMAS 4, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, MUCOPOLYSACCHARIDOSIS IH/S, ?MICROPHTHALMIA, SYNDROMIC 1, NEUROCUTANEOUS MELANOSIS, SOMATIC, HYPOPHOSPHATASIA, CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, PARIETAL FORAMINA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, IMMUNODEFICIENCY, COMMON VARIABLE, 12, BENT BONE DYSPLASIA SYNDROME, XERODERMA PIGMENTOSUM, GROUP D, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, LOEYS-DIETZ SYNDROME 4, SIALURIA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ACROKERATOSIS VERRUCIFORMIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

UROD, HLCS, FANCM, CAV1, TNFRSF1A, FGFR1, APOB, CDK5, MAN1B1, COL1A1, SDHD, CPT2, LBR, PEX14, CYP27A1, IKBKG, MT-CO3, LCK, PLCD1, EBP, ALDOA, H6PD, F2, GUSB, MGAT2, ENPP1, PMM2, PPARG, MOGS, PTDSS1, ALG3, DKC1, WNK1, BTD, NSDHL, BTK, KMT2A, G6PC3, PIGC, GALE, TYR, OCRL, SDHA, ST3GAL5, RAB7A, PEX7, NDUFB11, SUFU, NEU1, SDHB, PIK3CA, IDUA, POLE, UGT1A4, HAL, CD81, ERCC2, COX4I2, CYB5R3, NDUFA12, NME1, CYP26C1, GNE, UGT1A1, ASAH1, MSH2, ARSE, RBPJ, PDGFRB, SMARCB1, PCNA, NR0B1, SMARCA2, PCCB, ATP6V0A2, TGFB2, TAF1, FGFR3, KRAS, ALDOB, FCGR2B, CASP8, BRAF, EGFR, DPH1, AR, DPAGT1, SURF1, IGF2, IDS, GNAS, PKLR, HSD11B1, SHMT1, LMNB1, LRP1, PIGT, CBS, SKIV2L, MLH1, AMACR, MVD, SDHC, APOA2, POLG, TAF6, LMNA, ALG11, FGF23, CYP11B1, CPOX, NNT, ATP2A2, MSMO1, ABCA1, PYCR1, MSX2, DMPK, MVK, GJA1, NR1I3, JAK2, GNS, ATP2C1, TALDO1, G6PC, JUP, SGSH, DSE, GALNT3, AP1S1, MT-ND3, FKBP14, EZH2, ATP6V1B2, FANCA, IFNG, ALAS2, SMC1A, CLASP1, LIPC, B3GAT3, PANK2, SMARCAD1, ERCC8, NDUFV1, NDUFA10, BCO1, ALDH3A2, TYRP1, MYO5A, COX7B, NCF1, BANF1, GPC3, ALPL, NARS2, SMPD1, ALOX12B, SOX9, MT-ATP6, CTNNB1, XYLT2, SMAD4, KRT5, VWF, SMAD9, EPHX2, MECP2, INSR, HPRT1, MMP2, FLNA, LEP, PAPSS2, PCK1, VHL, BMP2, BCS1L, TGDS, ESR1, HRAS, BRCA1, MTOR, UROS, KL, TPI1, VDR, EXT2, TSC2, PPOX, DDX58, ADAMTS10, ALDH18A1, LDLR, GFI1B, PRKCD, DOLK, ARSB, PHGDH, COX15, HNRNPK, FECH, POLD1, AKT1, PSAT1, TINF2, PIGO, SLCO1B1, NDUFA9, HSPA9, HK1, ATR, B3GALT6, ECHS1, TNNT2, NAA10, COX10, HGSNAT, PLG, GPX4, PAH, SUMF1, AGPAT2, POLA1, PFKM, NRAS, ISG15, SPTLC2, SUCLG1, SMAD3, NGF, MTHFR, HDAC8, COQ2, HCCS, ASL, PAX3, ALB, DPM1, DHCR7, JAGN1, PIGL, XYLT1, NR5A1, PTPN11, ATM, RPS6KA3, GMPPA, PIGN, SMARCA4, NAGLU, MTR, PDGFRA, SPTLC1, NFKB1, STAT3, GLB1, NOTCH1, NDUFS4, PCCA, CERS3, PMVK, BLM, NDUFA2, CXCR4, FGFR2, PLCG2, C10orf2, AGXT, GBA, UBE2A, NDUFS8, GLUL, PMS2, LDHA, NDUFS3, MT-ND5, FH, B4GALT7, DGUOK, GALNT14, AKR1D1, TBXAS1, PIGV, FASLG, MTAP, PIGA, GNRH1, NHP2, MYH11, PNPLA2, NR3C1, HSPG2, CHKB, ITGB3, PIK3R1, HSD3B7, DHFR, NDUFS7, PEX5, ATIC

ATROPHODERMA VERMICULATUM, HYPER-IGE RECURRENT INFECTION SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?SPINOCEREBELLAR ATAXIA 34, {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}, SOTOS SYNDROME 1, POROKERATOSIS 3, MULTIPLE TYPES, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, POROKERATOSIS 7, MULTIPLE TYPES, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?REYNOLDS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CATEL-MANZKE SYNDROME, NEUROFIBROMATOSIS, FAMILIAL SPINAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, MEND SYNDROME, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, HAJDU-CHENEY SYNDROME, HYPERCHLORHIDROSIS, ISOLATED, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NAXOS DISEASE, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, DOWLING-DEGOS DISEASE 1, FLOATING-HARBOR SYNDROME, HYPERBILIVERDINEMIA, PRADER-WILLI SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MUCOPOLYSACCHARIDOSIS TYPE IIID, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, NEUROFIBROMATOSIS, TYPE 1, WAARDENBURG SYNDROME, TYPE 4C, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, LYSYL HYDROXYLASE 3 DEFICIENCY, PARAGANGLIOMAS 3, KAHRIZI SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, KLEEFSTRA SYNDROME, IMMUNODEFICIENCY 38, HYPER-IGD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, UV-SENSITIVE SYNDROME 2, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS VII, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MUENKE SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, WAARDENBURG SYNDROME, TYPE 1, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, OGDEN SYNDROME, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, ASPARTYLGLUCOSAMINURIA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, DOWLING-DEGOS DISEASE 2, KANZAKI DISEASE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, LATERAL MENINGOCELE SYNDROME, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, COLE DISEASE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, DONNAI-BARROW SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, MYOTONIC DYSTROPHY 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, FARBER LIPOGRANULOMATOSIS, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, ALBINISM, OCULOCUTANEOUS, TYPE III, KABUKI SYNDROME 2, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CEREBROTENDINOUS XANTHOMATOSIS, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, GM1-GANGLIOSIDOSIS, TYPE I, 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, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CUTIS LAXA, AUTOSOMAL DOMINANT 3, DYSKERATOSIS CONGENITA, X-LINKED, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, COFFIN-SIRIS SYNDROME 3, FRUCTOSE INTOLERANCE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CORTISONE REDUCTASE DEFICIENCY 1, MUCOPOLYSACCHARIDOSIS IH, EPIDERMAL NEVUS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CORTISONE REDUCTASE DEFICIENCY 2, GAUCHER DISEASE, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, [HISTIDINEMIA], NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, EVEN-PLUS SYNDROME, CRIGLER-NAJJAR SYNDROME, TYPE I, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, {MELANOMA, CUTANEOUS MALIGNANT, 3}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ESTROGEN RESISTANCE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, IMMUNODEFICIENCY 23, DESBUQUOIS DYSPLASIA 2, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?PRUNE BELLY SYNDROME, ICHTHYOSIS, X-LINKED, CEREBELLOFACIODENTAL SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, POROKERATOSIS 1, MULTIPLE TYPES, ERYTHROCYTOSIS, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, SECKEL SYNDROME 1, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, ADAMS-OLIVER SYNDROME 4, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, LESCH-NYHAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, NEUROCUTANEOUS MELANOSIS, SOMATIC, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, XERODERMA PIGMENTOSUM, GROUP D, LOEYS-DIETZ SYNDROME 4, SJOGREN-LARSSON SYNDROME, ACROKERATOSIS VERRUCIFORMIS, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, SPHEROCYTOSIS, TYPE 4, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, AMISH INFANTILE EPILEPSY SYNDROME, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, PCWH SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, FUCOSIDOSIS, IMMUNODEFICIENCY 43, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, GLUTAMINE DEFICIENCY, CONGENITAL, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MOYAMOYA 6 WITH ACHALASIA, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, NEU-LAXOVA SYNDROME 1, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?THROMBOXANE SYNTHASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FILS SYNDROME, 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, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OHDO SYNDROME, X-LINKED, WHIM SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, OSTEOGENESIS IMPERFECTA, TYPE I, CHIME SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, GRISCELLI SYNDROME, TYPE 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OCULOECTODERMAL SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ETHYLMALONIC ENCEPHALOPATHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, CORNELIA DE LANGE SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, GALACTOSE EPIMERASE DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, KOSAKI OVERGROWTH SYNDROME, OPITZ-KAVEGGIA 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, PHYTANIC ACID STORAGE DISEASE, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, MUIR-TORRE SYNDROME, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, PARAGANGLIOMAS 4, APERT SYNDROME, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MULTIPLE SULFATASE DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MANNOSIDOSIS, BETA, HEPATIC LIPASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, GLUCOCORTICOID RESISTANCE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, TRANSALDOLASE DEFICIENCY, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, CARDIOFACIOCUTANEOUS SYNDROME, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, CORNELIA DE LANGE SYNDROME 3, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, ARGININOSUCCINIC ACIDURIA, 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, NESTOR-GUILLERMO PROGERIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, SULFITE OXIDASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, RUBINSTEIN-TAYBI SYNDROME, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PREMATURE OVARIAN FAILURE 7, PYRUVATE KINASE DEFICIENCY, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, BRUCK SYNDROME 2, ADAMS-OLIVER SYNDROME 3, MUCOPOLYSACCHARIDOSIS II, NEU-LAXOVA SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), GLYCOGEN STORAGE DISEASE IA, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, WAARDENBURG SYNDROME, TYPE 3, TRIGONOCEPHALY 1, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, IMMUNODEFICIENCY 14, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, LOWE SYNDROME, HAILEY-HAILEY DISEASE, CRIGLER-NAJJAR SYNDROME, TYPE II, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, CHILD SYNDROME, DARIER DISEASE, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, ADERMATOGLYPHIA, FOCAL FACIAL DERMAL DYSPLASIA 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, GLYCOGEN STORAGE DISEASE XI, PARIETAL FORAMINA 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HYPOPHOSPHATASIA, CHILDHOOD, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GLUCOCORTICOID DEFICIENCY 4, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, HAMAMY SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, DOWLING-DEGOS DISEASE 4, KABUKI SYNDROME 1, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, 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, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

UROD, SUOX, FGFR1, TSC2, LBR, GNAS, GUSB, POGLUT1, EOGT, ETHE1, ALG3, NSDHL, KDM6A, B2M, PIGO, FH, H6PD, G6PC, WNK1, ARSE, GFI1B, CYB5R3, CREBBP, KMT2C, RASA1, ECHS1, KL, APOA1, ISG15, IDS, SHMT1, CBS, MTOR, ASAH1, MGAT2, BTD, PIK3CD, IFNG, CBL, NR1I3, JAK2, PAPSS2, ATP2C1, SGSH, GALNT3, TNNT2, ALAS2, ENPP1, NDUFA10, SMC3, MAN1B1, BANF1, ALDOA, CTNNB1, NRAS, SUFU, NDUFA12, SMAD4, CHST14, SLC4A1, LEP, PYCR1, NDUFS7, NARS2, AKT1, TPI1, PRKCD, UBE3A, COX15, EZH2, HSPA9, GNE, PEX5, XRCC4, POLA1, CHST3, CUL4B, PIGA, SPTLC2, MANBA, HNRNPK, PIGN, PIGL, SRCAP, CXCR4, GMPPA, DMPK, PDSS1, PTPN11, NDUFS4, PCCA, GPX4, RAB7A, B4GALT7, AKR1D1, LRP2, COX7B, ATP2A2, SDHB, PDE4D, SURF1, UGT1A1, PEX14, IRX5, NAA10, ACTB, PSEN1, DGUOK, ALPL, B3GLCT, PCCB, PTDSS1, CDK4, BMP2, IDUA, KMT2A, NPR2, MT-CO3, CYP11B1, HSD11B1, MVD, CD81, OCRL, SOX9, TGFB2, MMP2, ALDOB, CYP7B1, NME1, PKLR, POFUT1, GNS, AMACR, CA12, MSX2, ADAMTS10, JUP, LIPC, ZMPSTE24, MEN1, FANCA, STS, FGF23, STAT3, BRAF, BCO1, NCF1, DPH1, MT-ATP6, KRT5, SMAD9, ALDH3A2, TGDS, NDN, SMC1A, VDR, NAGLU, PMVK, EGFR, HK1, NF1, GUCY1A3, MT-ND3, NDUFV1, DDX41, AR, MTFMT, PAX3, ALB, JAGN1, NR5A1, XYLT1, KMT2D, SRD5A2, MTR, SPTLC1, PLG, CERS3, LDLR, BLM, FCGR2B, THRA, PCNA, AGA, SMAD3, ALDH18A1, HSPG2, ESR1, C10orf2, SKIV2L, ATIC, LMNA, F2, CYP27A1, IKBKG, PLCD1, CAV1, ATP6V1B2, PMM2, TAF6, CDK5, ALG11, ERCC8, APOB, PIGC, PNPLA2, FANCM, PIK3CA, UGT1A4, ST3GAL5, COX4I2, CPT2, CYP26C1, PRKACG, RBPJ, SMARCA4, CASP8, IGF2, NOTCH2, SDHC, MOGS, NNT, MSMO1, ABCA1, PLOD1, PLOD3, EBP, TALDO1, PFKM, DSE, ERCC5, FKBP14, NDUFA9, RBP4, RPS6KA3, DKC1, TYRP1, SLCO1B1, TYR, SMPD1, PDE11A, SDHD, G6PC3, GALNT14, VHL, BCS1L, TNFRSF1A, PPOX, NR3C1, COQ2, EPHX2, ALOX12B, FECH, POLD1, MTAP, TERT, TSHR, PTEN, FGFR3, SOX10, EHMT1, NDUFS3, SDHA, SLC40A1, SMARCB1, MTHFR, HDAC8, ASL, DPM1, B3GAT3, PANK2, POLE, GBA, SUCLG1, PLOD2, PIGV, HRAS, POLG, AGPAT2, NDUFB11, IRF6, PEX7, TINF2, DHFR, SMARCAD1, FUCA1, NDUFS8, HLCS, COL1A1, SRD5A3, PIGT, ACP5, ITGB3, MLH1, MYO5A, PPARG, PRKAR1A, HPRT1, BTK, BLVRA, MAN2B1, CLASP1, NEU1, HAL, ERCC2, PDGFRB, XYLT2, ATP6V0A2, SMARCA2, APOA2, KRAS, CPOX, LMNB1, LRP1, AGXT, NR0B1, ELOVL4, PDGFRA, TAF1, AP1S1, NDUFA2, NOTCH3, PCK1, DPAGT1, GJA1, LDHA, VWF, MECP2, MVK, FOXP3, UROS, GALE, BRCA1, DDX58, MED12, FASLG, PGM3, PSAT1, ARSB, B3GALT6, CHRM3, HGSNAT, PAH, SUMF1, LCK, FLNA, NGF, HCCS, DHCR7, ATM, GLB1, BRF1, NSD1, NFKB1, EXT2, INSR, NOTCH1, AKT3, MSH2, FGFR2, PLCG2, GLA, GLUL, PMS2, MT-ND5, GPC3, TBXAS1, DOLK, NAGA, GNRH1, NHP2, MYH11, PHGDH, ATR, CHKB, HSD3B7, COX10, PIK3R1

MULLERIAN APLASIA AND HYPERANDROGENISM, ATROPHODERMA VERMICULATUM, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, SELECTIVE T-CELL DEFECT, ?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, HERMANSKY-PUDLAK SYNDROME 1, 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}, DYSAUTONOMIA, FAMILIAL, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PERIODONTITIS 1, JUVENILE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, MULTIPLE SYNOSTOSES SYNDROME 1, ?REYNOLDS SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), MANDIBULOACRAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, HAIM-MUNK SYNDROME, IMMUNODEFICIENCY 35, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, BOHRING-OPITZ SYNDROME, C2 DEFICIENCY, FUHRMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, SECKEL SYNDROME 1, 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, NAXOS DISEASE, PEROXISOME BIOGENESIS DISORDER 14B, FRANK-TER HAAR SYNDROME, ANGELMAN SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, PRADER-WILLI SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MUCOPOLYSACCHARIDOSIS TYPE IIID, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HAY-WELLS SYNDROME, HEIMLER SYNDROME 2, BRACHYDACTYLY, TYPE A1, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, 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, TIMOTHY SYNDROME, IMMUNODEFICIENCY 38, HYPER-IGD SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS VII, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MUENKE SYNDROME, ASPARTYLGLUCOSAMINURIA, ?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, OGDEN SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTONASAL DYSPLASIA 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, TUBEROUS SCLEROSIS-1, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, HERMANSKY-PUDLAK SYNDROME 2, VAN DEN ENDE-GUPTA SYNDROME, NAIL-PATELLA SYNDROME, VAN MALDERGEM SYNDROME 2, PSEUDOHYPOPARATHYROIDISM IA, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, KANZAKI DISEASE, LATERAL MENINGOCELE SYNDROME, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE XVII, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, HOLOPROSENCEPHALY-5, GAUCHER DISEASE, TYPE I, BRACHYDACTYLY, TYPE B2, WEILL-MARCHESANI SYNDROME 2, DOMINANT, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), {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}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, MYOTONIC DYSTROPHY 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPEROXALURIA, PRIMARY, TYPE 1, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ARTHROGRYPOSIS, DISTAL, TYPE 8, MEIER-GORLIN SYNDROME 1, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, MUCOLIPIDOSIS II ALPHA/BETA, PYCNODYSOSTOSIS, ALBINISM, OCULOCUTANEOUS, TYPE III, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, PEELING SKIN SYNDROME 4, EPIDERMOLYTIC HYPERKERATOSIS, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, 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, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, TOOTH AGENESIS, SELECTIVE, 4, SOTOS SYNDROME 1, NOONAN SYNDROME 9, HEMOPHILIA A, COFFIN-SIRIS SYNDROME 3, 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, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, MUCOPOLYSACCHARIDOSIS IH, EPIDERMAL NEVUS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), MUCOLIPIDOSIS III ALPHA/BETA, HEIMLER SYNDROME 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, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, EVEN-PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 3B, {MELANOMA, CUTANEOUS MALIGNANT, 3}, NOONAN SYNDROME 10, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ESTROGEN RESISTANCE, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ALAGILLE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, BECKWITH-WIEDEMANN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 5, ?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, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, POROKERATOSIS 1, MULTIPLE TYPES, ERYTHROCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, LYMPHEDEMA, HEREDITARY, ID, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, BRACHYDACTYLY, TYPE B1, TUMOR PREDISPOSITION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, FACTOR XIIIA DEFICIENCY, ?MICROPHTHALMIA, SYNDROMIC 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, XERODERMA PIGMENTOSUM, GROUP D, LOEYS-DIETZ SYNDROME 4, LEOPARD SYNDROME 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, ?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, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, SC PHOCOMELIA SYNDROME, PARIETAL FORAMINA 2, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, 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, PCWH SYNDROME, SADDAN, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, GIANT AXONAL NEUROPATHY-1, MOYAMOYA 6 WITH ACHALASIA, LEPRECHAUNISM, OPITZ GBBB SYNDROME, TYPE I, MECKEL SYNDROME 10, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, CORNELIA DE LANGE SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LIMB-MAMMARY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, 3-M SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, WISKOTT-ALDRICH SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOTONIC DYSTROPHY 2, MUCOPOLYSACCHARIDOSIS IH/S, TANGIER DISEASE, PAPILLON-LEFEVRE SYNDROME, ODONTOONYCHODERMAL DYSPLASIA, EPIDERMOLYSIS BULLOSA PRURIGINOSA, CORNELIA DE LANGE SYNDROME 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), COPROPORPHYRIA, HARDEROPORPHYRIA, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, PHYTANIC ACID STORAGE DISEASE, 46XY SEX REVERSAL 6, BRACHYDACTYLY, TYPE A1, D, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ACROMICRIC DYSPLASIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CUTIS LAXA, AD, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, PALLISTER-HALL SYNDROME, FARBER LIPOGRANULOMATOSIS, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, {PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO}, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, THROMBOCYTOPENIA 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, MULTIPLE SULFATASE DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MANNOSIDOSIS, BETA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, GLUCOCORTICOID RESISTANCE, ZIMMERMANN-LABAND SYNDROME 2, TRANSALDOLASE DEFICIENCY, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, GRISCELLI SYNDROME, TYPE 1, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ACNE INVERSA, FAMILIAL, 2, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, ACNE INVERSA, FAMILIAL, 3, RUBINSTEIN-TAYBI SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NOONAN SYNDROME 4, ADULT SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PSEUDOPSEUDOHYPOPARATHYROIDISM, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, PREMATURE OVARIAN FAILURE 7, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, AMELOGENESIS IMPERFECTA, TYPE IA, URBACH-WIETHE DISEASE, BRUCK SYNDROME 2, ADAMS-OLIVER SYNDROME 3, MUCOPOLYSACCHARIDOSIS II, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, WAARDENBURG SYNDROME, TYPE 3, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SCHOPF-SCHULZ-PASSARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 2A, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, 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, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, CHILD SYNDROME, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, 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, WRINKLY SKIN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, ADERMATOGLYPHIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, GLYCOGEN STORAGE DISEASE XI, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, 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, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TIETZ ALBINISM-DEAFNESS SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, RABSON-MENDENHALL SYNDROME, MEIER-GORLIN SYNDROME 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TSC2, MSH6, ORC6, EDNRA, PDE4D, LBR, GNAS, CIITA, COL3A1, FTL, GUSB, NSDHL, B2M, SLC17A5, NOG, SCARF2, ITGA3, RAB7A, GNPTAB, WNK1, GFI1B, TNXB, CREBBP, SMARCA2, NF2, F13A1, KL, APOA1, ISG15, IDS, THRA, CBS, MTOR, ASAH1, LEP, TBXA2R, PIK3CD, ADAMTS10, CBL, JAK2, SPARC, SGSH, VEGFC, ROR2, FGD1, TNNT2, TP63, TYK2, SMC3, GATA1, GP6, ALDOA, CTNNB1, IL2RA, SMAD4, CTSK, ETV6, EPHX2, PDGFRB, LAMA3, SOX9, TUBB, AKT1, UBE3A, SH3PXD2B, EZH2, GLI3, HSPA9, ORC1, EFNB1, PEX5, NOD2, POLA1, CUL4B, PEX26, MASP1, HNRNPK, LAMC2, COL5A2, PEX12, BMPR1B, DMPK, FGF5, ENG, HLA-B, PTPN11, COL6A1, CXCR4, CTSC, ESCO2, HLA-DQB1, BDNF, CTNS, ACVRL1, HLA-C, KRT1, TSC1, TAP2, FSHB, PEX14, SEC23A, GJB6, APOB, MMP1, NAA10, ACTB, PSEN1, ALPL, VPS37A, ITGA2B, IDUA, WNT10A, AR, GDF5, SOS1, PRF1, DLL4, IKBKAP, IL2RG, CD81, SF3B4, TGFBR2, SHOC2, TGFB2, MMP2, MAP2K2, NME1, ZIC2, NOTCH1, ERCC3, NAGA, GNS, AMACR, MSX2, MVK, B9D2, C2, MYOM1, JUP, MEN1, GDNF, BAP1, HOXA11, STS, FGF23, STAT3, BRAF, SOS2, NCF1, DPH1, FOLR1, PSENEN, RASA1, FLT4, SMAD9, GHR, PEX11B, NFKB2, BMP2, EDNRB, NDN, SMC1A, AP1S3, VDR, FGFR1, NAGLU, AXIN2, PMVK, LRP2, NCF2, ELN, PSTPIP1, ITGA6, KIT, OCLN, PEX1, COL6A2, HTRA1, CYBB, PAX3, ALB, ASXL1, NR5A1, NTRK1, MSX1, DDX58, SPTLC1, F8, CACNA1C, COL6A3, BLM, FCGR2B, PCSK9, PCNA, AGA, CTLA4, DHFR, PEX16, EPOR, SMAD3, HSPG2, ESR1, C10orf2, ATIC, LMNA, F2, RAD21, FAS, IKBKG, PEX6, CYBA, ATP6V1B2, CDK5, CLDN1, KMT2A, NEB, MANBA, STK11, FGF3, CDKN1C, PNPLA2, PIK3CA, JAG1, ECM1, PRKACG, RBPJ, ADAM10, ACVR1, SMARCA4, RUNX1, CASP8, EGFR, LZTR1, IGF2, GATA2, SNAP29, EDA, COL1A2, ITGA2, ABCA1, PLOD3, HGSNAT, NFKBIA, ACP5, TALDO1, CLEC7A, PFKM, TNFRSF1A, TMEM173, TSHR, RPS6KA3, WAS, ALX4, TYRP1, COL7A1, ITGB3, SMPD1, PAX2, LMX1B, STAT1, VHL, COL4A1, STEAP3, BRCA1, NR3C1, FZD6, ITPR2, FBN1, IHH, POLD1, CDK4, PTEN, FGFR3, ABCD3, BTK, NRAS, SMARCB1, PRKCD, FAT4, HOXC13, CDKN2A, AP3B1, COL11A1, ITGB4, STAMBP, PCNT, GBA, PLOD2, COL18A1, HRAS, SFTPC, AGPAT2, ZAP70, PEX7, TINF2, FLNB, SMARCAD1, FUCA1, NEU1, CAV1, COL1A1, CNBP, MAP3K1, TAP1, GLB1, TBX3, MYO5A, PPARG, COL5A1, PRKAR1A, PHYH, GAN, KISS1R, CDSN, SOX10, PLG, MAN2B1, CLASP1, MPV17, EFEMP2, ERCC2, WNT4, HLA-DQA1, ATP6V0A2, MITF, PTCH1, WNT7A, DVL3, TAF1, KRAS, WRN, CDAN1, CPOX, LMNB1, LRP1, MID1, AGXT, ABCC2, IFNG, ZIC3, PDGFRA, TGFBR1, SLC4A1, AP1S1, CUL7, NOTCH3, NLRP1, PTPRC, PAX8, PLIN1, GJA1, CSTA, MYH3, USP9X, LDHA, VWF, MECP2, COL17A1, TGFB3, APC, LAMB3, FOXP3, GUCY1A3, GNAQ, WNT5A, DTNBP1, LDLR, MCM4, ARSB, HOXD13, CHRM3, DLX5, SUMF1, LCK, FLNA, NGF, GJB2, ATR, CASP10, ATM, NSD1, NFKB1, FCGR2A, PRKACA, INSR, AKT3, MSH2, FGFR2, LIFR, GLA, PMS2, RET, HFE, FGF20, FASLG, GNRH1, MYH11, PEX2, MTRR, PORCN, PIK3R1

MULLERIAN APLASIA AND HYPERANDROGENISM, ATROPHODERMA VERMICULATUM, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, 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, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, 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}, DYSAUTONOMIA, FAMILIAL, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, POROKERATOSIS 7, MULTIPLE TYPES, 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, ?REYNOLDS SYNDROME, MANDIBULOACRAL DYSPLASIA, OGDEN SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, NEUROFIBROMATOSIS, FAMILIAL SPINAL, IMMUNODEFICIENCY 35, 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, C2 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 2, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, ?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, NAXOS DISEASE, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ANGELMAN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA, PRETIBIAL, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, PRADER-WILLI SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, NEUROFIBROMATOSIS, TYPE 1, BRACHYDACTYLY, TYPE A1, PSEUDOHYPOPARATHYROIDISM IA, WAARDENBURG SYNDROME, TYPE 4C, LYSYL HYDROXYLASE 3 DEFICIENCY, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, HYPER-IGD SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, UV-SENSITIVE SYNDROME 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MUENKE SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, WAARDENBURG SYNDROME, TYPE 1, POROKERATOSIS 3, MULTIPLE TYPES, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, TUBEROUS SCLEROSIS-1, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ?CANDIDIASIS, FAMILIAL, 8, HAY-WELLS SYNDROME, LATERAL MENINGOCELE SYNDROME, TARP SYNDROME, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, OSTEOGENESIS IMPERFECTA, TYPE XVII, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, HOLOPROSENCEPHALY-5, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, MYOTONIC DYSTROPHY 1, NIJMEGEN BREAKAGE SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, MELNICK-NEEDLES SYNDROME, WATSON SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, PYCNODYSOSTOSIS, STORMORKEN SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, HEMOCHROMATOSIS, TYPE 2A, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, 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, TOOTH AGENESIS, SELECTIVE, 4, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, BROOKE-SPIEGLER SYNDROME, NOONAN SYNDROME 9, COFFIN-SIRIS SYNDROME 3, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 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, CYLINDROMATOSIS, FAMILIAL, 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, 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, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, EVEN-PLUS SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, ARTHROGRYPOSIS, DISTAL, TYPE 8, ACNE INVERSA, FAMILIAL, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ALAGILLE SYNDROME, ESTROGEN RESISTANCE, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, BECKWITH-WIEDEMANN SYNDROME, MOYAMOYA 6 WITH ACHALASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOPS SYNDROME, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DUBIN-JOHNSON SYNDROME, CEREBELLOFACIODENTAL SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ESCOBAR SYNDROME, GLYCOGEN STORAGE DISEASE IA, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, LYMPHEDEMA, HEREDITARY, ID, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, GALLBLADDER DISEASE 1, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, HERMANSKY-PUDLAK SYNDROME 9, FUHRMANN SYNDROME, BRACHYDACTYLY, TYPE B1, TUMOR PREDISPOSITION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, FACTOR XIIIA DEFICIENCY, ?MICROPHTHALMIA, SYNDROMIC 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, HAMAMY SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, XERODERMA PIGMENTOSUM, GROUP D, LOEYS-DIETZ SYNDROME 4, LEOPARD SYNDROME 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, 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, 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, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, IMMUNODEFICIENCY 43, PCWH SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, GIANT AXONAL NEUROPATHY-1, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, COLD-INDUCED SWEATING SYNDROME 2, LEPRECHAUNISM, MECKEL SYNDROME 10, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PHELAN-MCDERMID SYNDROME, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, TEMPLE-BARAITSER SYNDROME, FILS SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, LIMB-MAMMARY SYNDROME, STIFF SKIN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, FIBROCHONDROGENESIS 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, SCLEROSTEOSIS 2, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, 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, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, CORNELIA DE LANGE SYNDROME 2, WISKOTT-ALDRICH SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, SCLEROSTEOSIS 1, HYPOTRICHOSIS 8, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, ODONTOONYCHODERMAL DYSPLASIA, EPIDERMOLYSIS BULLOSA PRURIGINOSA, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, PHYTANIC ACID STORAGE DISEASE, 46XY SEX REVERSAL 6, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, BRACHYDACTYLY, TYPE A1, D, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ACROMICRIC DYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PALLISTER-HALL SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, THROMBOCYTOPENIA 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SECKEL SYNDROME 1, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, GLUCOCORTICOID RESISTANCE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, TRANSALDOLASE DEFICIENCY, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, GRISCELLI SYNDROME, TYPE 1, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ACNE INVERSA, FAMILIAL, 2, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ACNE INVERSA, FAMILIAL, 3, SMITH-LEMLI-OPITZ SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?IMMUNODEFICIENCY 16, 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, ?TRICHOTILLOMANIA, ADAMS-OLIVER SYNDROME 3, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SCHOPF-SCHULZ-PASSARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 2A, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, LOWE SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CORNELIA DE LANGE SYNDROME 4, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), MYHRE SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 10, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, DARIER DISEASE, SECKEL SYNDROME 9, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, 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, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, GLYCOGEN STORAGE DISEASE XI, BLEEDING DISORDER, PLATELET-TYPE, 11, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), PREMATURE AGING SYNDROME, PENTTINEN TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CRANIOSYNOSTOSIS 6, TIETZ ALBINISM-DEAFNESS SYNDROME, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, CEREBRAL CAVERNOUS MALFORMATIONS-2, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ACROKERATOSIS VERRUCIFORMIS, SMITH-KINGSMORE 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, HEMOCHROMATOSIS, TYPE 2B, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TSC2, MSH6, EDNRA, PDE4D, GP1BA, LBR, GNAS, CIITA, COL3A1, FTL, KRIT1, B2M, NOG, DST, ITGA3, RAB7A, SEC23A, G6PC, WNK1, GFI1B, OCRL, CREBBP, MSX2, SMARCA2, NF2, FGFR3, KL, APOA1, ISG15, THRA, GNRHR, SKIV2L, TAF6, TNXB, PIK3CD, NR0B1, CBL, SMARCE1, NR1I3, JAK2, SPARC, JUP, VEGFC, ROR2, TNNT2, TP63, DEAF1, SMC3, GATA1, GP6, ALDOA, CTNNB1, IL2RA, SERPINC1, SUFU, SMAD4, DVL3, ETV6, PDGFRB, LAMA3, PCK1, SOX9, TUBB, AKT1, RIPK4, TPI1, LHB, UBE3A, ABCB4, EZH2, GLI3, EDAR, HSPA9, EFNB1, PEX5, ECHS1, HAMP, NOD2, COL6A3, SART3, POLA1, SLC2A1, HNRNPK, LAMC2, PTPN11, CXCR4, DMPK, FGF5, HLA-B, COL5A2, COL6A1, EDARADD, BDNF, ADAM17, HLA-DQB1, ALB, TSC1, SOS2, TAP2, FSHB, PEX14, CYBA, APOB, TRAIP, MMP1, NAA10, ACTB, PSEN1, DPH1, CYLD, ZIC1, ITGA2B, IL7R, G6PC3, KMT2A, WNT10A, AR, NPR2, GDF5, NBN, SOS1, PRF1, DLL4, PSENEN, NRAS, MVD, IKBKAP, IL2RG, CD81, SF3B4, TGFBR2, DCPS, TGFB2, MMP2, MAP2K2, HLA-C, NME1, VWF, NOTCH1, ERCC3, IL11RA, ITGB4, FGFR1, AFF4, MYO18B, MVK, B9D2, C2, MYOM1, RBM10, CDH3, MEN1, GDNF, BAP1, FANCA, FGF23, STAT3, BRAF, MC1R, NCF1, STIM1, ALPL, ADAR, RASA1, FLT4, SMAD9, GHR, KLC2, NFKB2, BMP2, HRAS, NDN, SMC1A, VDR, ASCL1, AXIN2, LRP2, SOX18, NCF2, ELN, VPS33B, PSTPIP1, HK1, NF1, KCNH1, MAF, ITGA6, KIT, CLCF1, SH2B3, COL6A2, HTRA1, CYBB, PAX3, ATP2A2, NR5A1, ABCB6, SOST, MSX1, DTNBP1, SPTLC1, MAP3K1, CACNA1C, PLG, LRP4, PCSK9, PCNA, CTLA4, EPOR, SMAD3, HSPG2, FCGR2A, MTOR, ATIC, LMNA, F2, TBXA2R, RAD21, FAS, IKBKG, PLCD1, LEP, CDK5, PPP1R3A, ERCC8, IRX5, ZEB2, NEB, STK11, FGF3, BCOR, PIK3CA, BMPER, JAG1, SLITRK1, ECM1, PRKACG, RBPJ, ADAM10, GRIP1, ACVR1, SMARCA4, RUNX1, DSP, CASP8, EGFR, ABCB11, NCSTN, IGF2, NOTCH2, GATA2, ACVRL1, EDA, NTRK1, COL1A2, ITGA2, ABCA1, PLOD3, ORAI1, GUCY1A3, NFKBIA, TALDO1, PFKM, DSE, TNFRSF1A, TMEM173, MLH1, TSHR, ESR1, GP9, RPS6KA3, WAS, COL7A1, ITGB3, SHANK3, PAX2, LMX1B, STAT1, RORC, VHL, IL10RB, KIF1B, FKBP14, BRCA1, NR3C1, FZD6, ITPR2, FBN1, IHH, POLD1, CDK4, PTEN, F13A1, ABCD3, SOX10, CHRND, P2RX1, ABCC6, NDUFS3, SPRED1, SMARCB1, PRKCD, IL17RA, MED25, TNFAIP3, COL11A1, CLDN1, STAMBP, KITLG, POLE, TYK2, ABCC9, PLOD2, COL4A1, COL18A1, EDNRB, OCLN, ZAP70, NDUFB11, IRF6, TINF2, FLNB, CAV1, COL1A1, CNBP, CHRNG, RAG1, GDF6, TAP1, DDX3X, TBX3, MYO5A, PPARG, COL5A1, PRKAR1A, PHYH, GAN, KISS1R, BTK, IL10RA, CDKN2A, CLASP1, BLOC1S6, ERCC2, WNT4, POU1F1, HLA-DQA1, MITF, PTCH1, WNT7A, CTSK, APOA2, KRAS, ABCA12, TRAF3IP2, CDAN1, GP1BB, CPOX, LRP1, PTCH2, MECOM, ABCC2, IFNG, CCM2, TGFBR1, TAF1, TNFRSF4, NOTCH3, NLRP1, ABCA5, PTPRC, GDF2, PAX8, PLIN1, GPC3, GJA1, SHOC2, MYH3, USP9X, LDHA, ZIC2, MECP2, COL17A1, MC2R, TGFB3, APC, LAMB3, CHRNA1, FOXP3, IL1RN, GNAQ, WNT5A, DDX58, LDLR, FOXL2, CDKN1C, RAG2, CHRM3, LPAR6, DLX5, SUMF1, ALOXE3, LCK, FLNA, NGF, GJB2, BMPR1B, DHCR7, CASP10, WRN, ATM, BRF1, NFKB1, EXT2, PRKACA, INSR, PKLR, AKT3, MSH2, FGFR2, PLCG2, LIFR, PDGFRA, RET, FGF20, FASLG, GNRH1, NHP2, MYH11, ATR, PIK3R1, HFE, PORCN, HFE2

PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, BJORNSTAD SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, WRINKLY SKIN SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, SPHEROCYTOSIS, TYPE 4, SULFITE OXIDASE DEFICIENCY, HYPERCHLORHIDROSIS, ISOLATED, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ETHYLMALONIC ENCEPHALOPATHY, GLUCOCORTICOID RESISTANCE, ZIMMERMANN-LABAND SYNDROME 2, ZIMMERMANN-LABAND SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, RENAL TUBULAR ACIDOSIS, DISTAL, AR, 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 4, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, GLYCOGEN STORAGE DISEASE VII, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, PROTEUS SYNDROME, SOMATIC, COFFIN-LOWRY SYNDROME

NDUFS3, NDUFS8, SUOX, CTNNB1, MT-ATP6, NDUFA12, ETHE1, SDHD, SDHA, MT-CO3, GLUL, ATP6V1B2, NDUFS7, BCS1L, NDUFS4, AKT1, COX10, CA12, COX4I2, SDHC, PAPSS2, COX15, PFKM, SLC4A1, ATP6V0A2, NDUFA2, NDUFA9, COX7B, MT-ND5, NR3C1, RPS6KA3, SDHB, NDUFB11, NDUFA10, MT-ND3, NDUFV1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, PREMATURE OVARIAN FAILURE 7, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SULFATASE DEFICIENCY, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ACRODERMATITIS ENTEROPATHICA, GLANZMANN THROMBASTHENIA, 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}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, PSEUDOPSEUDOHYPOPARATHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, PCWH SYNDROME, ADAMS-OLIVER SYNDROME 5, TOENAIL DYSTROPHY, ISOLATED, ATAXIA-TELANGIECTASIA, DUBIN-JOHNSON SYNDROME, OCCIPITAL HORN SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MOYAMOYA 6 WITH ACHALASIA, OCULODENTODIGITAL DYSPLASIA, CUTIS LAXA, AD, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, IMMUNODEFICIENCY 43, ?GLYCOPROTEIN IA DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, LOEYS-DIETZ SYNDROME 3, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, BRUCK SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, FUHRMANN SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, EPIDERMOLYSIS BULLOSA, PRETIBIAL, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, 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, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, BIOTINIDASE DEFICIENCY, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, HARTNUP DISORDER, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, GRISCELLI SYNDROME, TYPE 1, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, 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, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, EHLERS-DANLOS SYNDROME, TYPE IV, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, DARIER DISEASE, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, GLYCOGEN STORAGE DISEASE XI, PSEUDOHYPOPARATHYROIDISM IA, MENKES DISEASE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, TRANSIENT BULLOUS OF THE NEWBORN, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, LEPRECHAUNISM, HYPOPHOSPHATASIA, CHILDHOOD, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GALLBLADDER DISEASE 1, 3MC SYNDROME 1, ERYTHROCYTOSIS, FAMILIAL, 2, ESTROGEN RESISTANCE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, C4A DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LOEYS-DIETZ SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC, ACROKERATOSIS VERRUCIFORMIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

PDE4D, CAV1, APOB, COL1A1, ACTB, GNAS, CIITA, PIK3CA, COL3A1, FTL, F2, KRIT1, MYO5A, PPARG, CTNNB1, COL5A1, ALB, GJA1, BTK, B2M, ITGA2, G6PC, EFEMP2, CREBBP, PRKACG, SLC6A19, PCNA, WNT7A, LDHA, GNAQ, APOA1, ELN, HAMP, COL6A2, SLC39A4, NOTCH1, COL6A1, MTOR, LEP, BTD, PSEN1, PIK3CD, ABCA1, JAK2, CBL, LMBRD1, NR1I3, IFNG, C4A, TGFBR1, DSE, GDNF, ALPL, SLC7A7, FGF23, PLOD2, STAT3, SLCO1B1, COL7A1, LCK, NCF1, GP6, DDX3X, UBE2A, KCNN4, SOX9, DVL3, FLT4, COL17A1, STAT1, SLC2A1, RORC, VHL, COL4A1, BMP2, HRAS, AKT1, SMARCA4, ITPR2, VDR, PRKCD, LDLR, UBE3A, EGFR, ABCB4, COL1A2, HTRA1, SLC19A1, SLC37A4, HK1, PTEN, ABCB11, CHRM3, G6PC3, GUCY1A3, COL6A3, ABCC2, SUMF1, AGPAT2, PFKM, FLNA, SLC40A1, MYH11, NGF, MASP1, NR3C1, NR5A1, MMP2, PTPN11, ATM, SOS2, SLCO1B3, ATP7A, COL11A1, NFKB1, ACVR1, PRKACA, CACNA1C, INSR, COL5A2, AKT3, SOS1, CXCR4, BDNF, COL18A1, EDNRB, LRP2, GNRH1, EPOR, SMAD3, ATP2A2, HSPG2, ESR1, ITGB3, ITGA6, SOX10, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MULLERIAN APLASIA AND HYPERANDROGENISM, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PARIETAL FORAMINA 2, TRIGONOCEPHALY 1, RUBINSTEIN-TAYBI SYNDROME, SADDAN, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FUHRMANN SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, 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, MULTIPLE ENDOCRINE NEOPLASIA 1, WAARDENBURG SYNDROME, TYPE 3, ROBINOW SYNDROME, BRACHYDACTYLY, TYPE A1, D, BRACHYDACTYLY, TYPE A1, SCHOPF-SCHULZ-PASSARGE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NON-IMMUNE HYDROPS FETALIS, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OCULOECTODERMAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, HYPOCHONDROPLASIA, EPIDERMAL NEVUS, ACROCAPITOFEMORAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ADERMATOGLYPHIA, LOEYS-DIETZ SYNDROME 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ULNAR-MAMMARY SYNDROME, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, PALLISTER-HALL SYNDROME, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

FSHB, EZH2, CAV1, FGFR3, SMARCA4, AXIN2, NRAS, MAP2K2, SMARCAD1, SMAD4, NR3C1, DVL3, AKT3, NGF, WNT5A, SMAD9, GDNF, PAX2, PIK3CD, CREBBP, FLNA, TBX3, MTOR, FGFR1, STAT3, EDA, BMP2, PIK3CA, ROR2, WNT10A, FZD6, AKT1, CTNNB1, VDR, ESR1, FGFR2, BRCA1, IHH, DLX5, RUNX1, LIFR, TGFBR1, ZIC3, MEN1, GLI3, APC, PTEN, HRAS, COL1A2, EGFR, KRAS, EFNB1, PORCN, PDGFRB, SMAD3, PAX3, BMPR1B, WNT7A, ACVR1, KMT2A, ALX4, NOTCH1, JAK2, SF3B4, WNT4, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, HYPER-IGE RECURRENT INFECTION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, SHORT SYNDROME, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 35, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, MELNICK-NEEDLES SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, NOONAN SYNDROME 9, GLANZMANN THROMBASTHENIA, CLOVE SYNDROME, SOMATIC, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COFFIN-SIRIS SYNDROME 3, ESTROGEN RESISTANCE, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, LEOPARD SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TANGIER DISEASE, NEUROFIBROMATOSIS, TYPE 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, TUBEROUS SCLEROSIS 2, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUROCUTANEOUS MELANOSIS, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, EPIDERMAL NEVUS, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, IMMUNODEFICIENCY 43, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, FRONTOMETAPHYSEAL DYSPLASIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PROTEUS SYNDROME, SOMATIC

LCK, FASLG, NRAS, NF2, ITGB3, SMARCA4, APOA1, CBL, CASP8, PTPRC, PRF1, FAS, PTPN11, CXCR4, STAT1, FLNA, ESR1, TUBB, FOXP3, PIK3CD, IL2RA, HLA-B, AKT1, SMARCB1, BTK, B2M, PLCG2, TYK2, PRKCD, JAK2, HLA-C, MAP2K2, PIK3CA, SOS1, HRAS, EGFR, KRAS, IFNG, ZAP70, BRAF, STAT3, SOS2, DEAF1, PIK3R1

MULLERIAN APLASIA AND HYPERANDROGENISM, ATROPHODERMA VERMICULATUM, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, {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, CORNELIA DE LANGE SYNDROME 5, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, 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, MULTIPLE SYNOSTOSES SYNDROME 1, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, NEUROFIBROMATOSIS, FAMILIAL SPINAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, BOHRING-OPITZ SYNDROME, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, SECKEL SYNDROME 1, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, 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, ANGELMAN SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, NEUROFIBROMATOSIS, TYPE 1, BRACHYDACTYLY, TYPE A1, WAARDENBURG SYNDROME, TYPE 4C, LYSYL HYDROXYLASE 3 DEFICIENCY, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MUENKE SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, WAARDENBURG SYNDROME, TYPE 1, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, POROKERATOSIS 3, MULTIPLE TYPES, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FRONTONASAL DYSPLASIA 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, TUBEROUS SCLEROSIS-1, VAN DEN ENDE-GUPTA SYNDROME, NAIL-PATELLA SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, BARBER-SAY SYNDROME, HAY-WELLS SYNDROME, LATERAL MENINGOCELE SYNDROME, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, HOLOPROSENCEPHALY-5, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, POROKERATOSIS 7, MULTIPLE TYPES, BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, NIJMEGEN BREAKAGE SYNDROME, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, PACHYONYCHIA CONGENITA 2, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, KABUKI SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OLIGODONTIA-COLORECTAL CANCER SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, HEMOCHROMATOSIS, TYPE 2B, SOTOS SYNDROME 1, NOONAN SYNDROME 9, COFFIN-SIRIS SYNDROME 3, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 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, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, CORTISONE REDUCTASE DEFICIENCY 2, 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, EVEN-PLUS SYNDROME, KNOBLOCH SYNDROME 1, CRIGLER-NAJJAR SYNDROME, TYPE I, {MELANOMA, CUTANEOUS MALIGNANT, 3}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, ALAGILLE SYNDROME, ESTROGEN RESISTANCE, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, HYPOTRICHOSIS 8, DUBIN-JOHNSON SYNDROME, CEREBELLOFACIODENTAL SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, HAJDU-CHENEY SYNDROME, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, BRANCHIOOCULOFACIAL SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, FUHRMANN SYNDROME, BRACHYDACTYLY, TYPE B1, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, XERODERMA PIGMENTOSUM, GROUP D, LOEYS-DIETZ SYNDROME 4, PROTEUS SYNDROME, SOMATIC, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, BASAL CELL NEVUS SYNDROME, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, PARIETAL FORAMINA 2, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, LOEYS-DIETZ SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, IMMUNODEFICIENCY 43, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GIANT AXONAL NEUROPATHY-1, LEPRECHAUNISM, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PHELAN-MCDERMID SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, 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, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, LIMB-MAMMARY SYNDROME, ROBINOW SYNDROME, 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}, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, MULTIPLE ENDOCRINE NEOPLASIA IIA, OCULOECTODERMAL SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, TANGIER DISEASE, ODONTOONYCHODERMAL DYSPLASIA, EPIDERMOLYSIS BULLOSA PRURIGINOSA, PROUD SYNDROME, CORNELIA DE LANGE SYNDROME 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46XY SEX REVERSAL 6, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, BRACHYDACTYLY, TYPE A1, D, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, ACROMICRIC DYSPLASIA, ERYTHROCYTOSIS, FAMILIAL, 2, CUTIS LAXA, AD, STEATOCYSTOMA MULTIPLEX, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, PALLISTER-HALL SYNDROME, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, THROMBOCYTOPENIA 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, LYMPHEDEMA, HEREDITARY, ID, FRASER SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, GLUCOCORTICOID RESISTANCE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HERMANSKY-PUDLAK SYNDROME 1, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, ACNE INVERSA, FAMILIAL, 3, RUBINSTEIN-TAYBI SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NOONAN SYNDROME 4, 3MC SYNDROME 1, ABLEPHARON-MACROSTOMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, DIGITAL CLUBBING, ISOLATED CONGENITAL, MOWAT-WILSON SYNDROME, PREMATURE OVARIAN FAILURE 7, AMELOGENESIS IMPERFECTA, TYPE IA, ADAMS-OLIVER SYNDROME 3, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SCHOPF-SCHULZ-PASSARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 2A, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, FUMARASE DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CRIGLER-NAJJAR SYNDROME, TYPE II, CORNELIA DE LANGE SYNDROME 4, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, GENITOPATELLAR SYNDROME, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, GLYCOGEN STORAGE DISEASE XI, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, ANDROGEN INSENSITIVITY, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TIETZ ALBINISM-DEAFNESS SYNDROME, MYOTONIC DYSTROPHY 2, KABUKI SYNDROME 1, SMITH-KINGSMORE SYNDROME, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, 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, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC