SKIN NAILS AND HAIR

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, NON-IMMUNE HYDROPS FETALIS, BARAITSER-WINTER SYNDROME 1, ANGIOEDEMA, HEREDITARY, TYPES I AND II, VON WILLEBRAND DISEASE, TYPE 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OSTEOGENESIS IMPERFECTA, TYPE II, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, {PSORIASIS SUSCEPTIBILITY 1}, CORNELIA DE LANGE SYNDROME 4, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HEMOCHROMATOSIS, TYPE 2B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, COMPLEMENT FACTOR I DEFICIENCY, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, 3MC SYNDROME 1, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HEMOPHILIA A, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, CARASIL SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, {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, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, PAPILLON-LEFEVRE SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, TUBEROUS SCLEROSIS 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, RUBINSTEIN-TAYBI SYNDROME, SMITH-KINGSMORE SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PERIODONTITIS 1, JUVENILE, HAIM-MUNK SYNDROME, PROTEUS SYNDROME, SOMATIC, TYLOSIS WITH ESOPHAGEAL CANCER, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOB, ACTB, CAV1, MYH11, NGF, CDK5, MASP1, PROC, CASP8, ST14, RAD21, GP9, AR, FLT4, IGF2, COL1A2, COL1A1, MMP2, CTSC, GDF2, LEP, KITLG, BMP2, PLG, ALB, AKT1, CTNNB1, CBL, F2, MMP1, C2, F8, CFI, RUNX1, IFNG, EGFR, GPX4, PCSK9, RHBDF2, NEU1, TGFB3, CTNS, NME1, APC, HTRA1, FKBP14, HLA-C, SERPING1, F13A1, CREBBP, HAMP, HSPG2, STAT3, HLA-DQA1, HFE, MTOR, VWF

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BARAITSER-WINTER SYNDROME 1, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA PRURIGINOSA, 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}, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, PERIODONTITIS 1, JUVENILE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, PEELING SKIN SYNDROME 4, EPIDERMOLYTIC HYPERKERATOSIS, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, HAIM-MUNK SYNDROME, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, IMMUNODEFICIENCY 43, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, EPIDERMOLYSIS BULLOSA, PRETIBIAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, TUBEROUS SCLEROSIS 2, VAN DEN ENDE-GUPTA SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, WAARDENBURG SYNDROME, TYPE 2A, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOGLOPHONIC DYSPLASIA, CORNELIA DE LANGE SYNDROME 3, TRICHOHEPATOENTERIC SYNDROME 1, TOENAIL DYSTROPHY, ISOLATED, KNOBLOCH SYNDROME 1, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, PROTEUS SYNDROME, SOMATIC, WIEDEMANN-STEINER SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, PAPILLON-LEFEVRE SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPERTHYROIDISM, NONAUTOIMMUNE, CORNELIA DE LANGE SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, C4A DEFICIENCY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, ERYTHROCYTOSIS, FAMILIAL, 2, TRANSIENT BULLOUS OF THE NEWBORN, GLANZMANN THROMBASTHENIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, TIETZ ALBINISM-DEAFNESS SYNDROME, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, NETHERTON SYNDROME, PARIETAL FORAMINA 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SMITH-KINGSMORE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

SERPINC1, ITGB3, FGFR1, SMARCA4, APOA1, CSTA, CASP8, PTEN, RAD21, ALB, ACTB, IGF2, PROS1, NOTCH1, FLNA, STAT1, ITIH4, CTSC, TTC37, LEP, MTOR, VHL, ESR1, MAP3K1, BMP2, APOB, COL6A3, AKT1, NGF, MSX2, B2M, CREBBP, PLG, SPINT2, PIK3R1, SCARF2, C4A, SERPINB7, PCNA, SPINK5, COL1A1, COL18A1, FTL, F2, APC, KIF1BP, TNFRSF1A, COL1A2, EGFR, BMPER, FANCA, TSHR, GNRH1, MITF, SMC1A, SMAD3, MMP2, KRT1, RPS6KA3, STAT3, COL7A1, IL2RA, SMC3, SERPING1, CAST, HTRA1

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, ATROPHODERMA VERMICULATUM, {PSORIASIS SUSCEPTIBILITY 1}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, OCULODENTODIGITAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, POROKERATOSIS 1, MULTIPLE TYPES, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GLYCOPROTEIN IA DEFICIENCY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE 3, GLANZMANN THROMBASTHENIA, URBACH-WIETHE DISEASE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE XVII, 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, CUTIS LAXA, AD, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ALAGILLE SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, MICROPHTHALMIA WITH LIMB ANOMALIES, FIBROCHONDROGENESIS 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, BLEEDING DISORDER, PLATELET-TYPE, 17, PROTEUS SYNDROME, SOMATIC

CAV1, GJA1, ELN, PTPRC, SMAD9, NOTCH1, ITGB3, LRP1, COL11A1, ITGA2, ITGA2B, SOS1, SMOC1, PMVK, ITGA3, EGFR, SPARC, COL1A1, COL18A1, AKT1, HLA-C, JAG1, GFI1B, SMAD3, HSPG2, ECM1, ITGA6, PLG

OSTEOGENESIS IMPERFECTA, TYPE I, TOENAIL DYSTROPHY, ISOLATED, {PSORIASIS SUSCEPTIBILITY 1}, VON WILLEBRAND DISEASE, TYPE 1, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 11, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, KOSAKI OVERGROWTH SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SHORT SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, PREMATURE AGING SYNDROME, PENTTINEN TYPE, TRANSIENT BULLOUS OF THE NEWBORN, EHLERS-DANLOS SYNDROME, TYPE 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, KNOBLOCH SYNDROME 1, FRONTOMETAPHYSEAL DYSPLASIA, EPIDERMOLYSIS BULLOSA PRURIGINOSA, LOEYS-DIETZ SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE XVII, CUTIS LAXA, AD, EPIDERMOLYSIS BULLOSA, PRETIBIAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, PYCNODYSOSTOSIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, EPIDERMAL NEVUS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, IMMUNODEFICIENCY 43, ?GLYCOPROTEIN IA DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CCBE1, COL18A1, F2, SMAD3, ELN, SMAD4, CTSK, VWF, COL1A2, COL17A1, FLNA, STAT3, BMP2, ITGA2, B2M, COL6A1, IFNG, ITGA3, HLA-C, SPARC, COL1A1, GP6, HRAS, FASLG, PDGFRB, MYH11, HSPG2, ANTXR1, PIK3R1, MMP1, TNXB, COL7A1

ATROPHODERMA VERMICULATUM, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, 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, KERATOSIS PALMOPLANTARIS STRIATA I, AD, ?SPINOCEREBELLAR ATAXIA 34, 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, 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, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, MULTIPLE SYNOSTOSES SYNDROME 1, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, ?RENAL HYPODYSPLASIA/APLASIA 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, NEUROFIBROMATOSIS, FAMILIAL SPINAL, IMMUNODEFICIENCY 35, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, MEND SYNDROME, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, MENTAL RETARDATION, X-LINKED 102, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, NAXOS DISEASE, 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, DERMATOPATHIA PIGMENTOSA RETICULARIS, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, VIBRATORY URTICARIA, NEUROFIBROMATOSIS, TYPE 1, BRACHYDACTYLY, TYPE A1, WAARDENBURG SYNDROME, TYPE 4C, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, KLEEFSTRA SYNDROME, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 7, MUENKE SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, ?CANDIDIASIS, FAMILIAL, 8, HAY-WELLS SYNDROME, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MARFAN LIPODYSTROPHY SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, XERODERMA PIGMENTOSUM, GROUP B, 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, BENT BONE DYSPLASIA SYNDROME, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, DONNAI-BARROW SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, WATSON SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, PACHYONYCHIA CONGENITA 2, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, PYCNODYSOSTOSIS, {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, SHPRINTZEN-GOLDBERG SYNDROME, 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, RETICULATE ACROPIGMENTATION OF KITAMURA, TOOTH AGENESIS, SELECTIVE, 4, HEMOCHROMATOSIS, TYPE 2B, DYSKERATOSIS CONGENITA, X-LINKED, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, COFFIN-SIRIS SYNDROME 3, ACNE INVERSA, FAMILIAL, 1, 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, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, EPIDERMAL NEVUS, RABSON-MENDENHALL 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, {MELANOMA, CUTANEOUS MALIGNANT, 3}, ESTROGEN RESISTANCE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, BECKWITH-WIEDEMANN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?IMMUNODEFICIENCY 13, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, 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, ESCOBAR SYNDROME, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, LYMPHEDEMA, HEREDITARY, ID, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, FUHRMANN SYNDROME, BRACHYDACTYLY, TYPE B1, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, NEUROCUTANEOUS MELANOSIS, SOMATIC, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, LOEYS-DIETZ SYNDROME 4, LEOPARD SYNDROME 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, WARBURG MICRO SYNDROME 3, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ?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, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FRONTOMETAPHYSEAL DYSPLASIA, 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, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEPRECHAUNISM, MECKEL SYNDROME 10, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PHELAN-MCDERMID SYNDROME, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 3, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, TEMPLE-BARAITSER SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LIMB-MAMMARY SYNDROME, ROBINOW SYNDROME, BRACHYDACTYLY, TYPE A1, D, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, MULTIPLE ENDOCRINE NEOPLASIA IIA, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, HYPOTRICHOSIS 8, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 2, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, TANGIER DISEASE, ODONTOONYCHODERMAL DYSPLASIA, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, CORNELIA DE LANGE SYNDROME 1, 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, AYME-GRIPP SYNDROME, KOSAKI OVERGROWTH SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, BRACHYDACTYLY, TYPE B2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, 46XY SEX REVERSAL 6, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ACROMICRIC DYSPLASIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, STEATOCYSTOMA MULTIPLEX, PALLISTER-HALL SYNDROME, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, APERT SYNDROME, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, 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, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, FRASER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HEPATIC LIPASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, GLUCOCORTICOID RESISTANCE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, CARDIOFACIOCUTANEOUS SYNDROME, GRISCELLI SYNDROME, TYPE 1, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, 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, 3MC SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, DIGITAL CLUBBING, ISOLATED CONGENITAL, ?IMMUNODEFICIENCY 16, PREMATURE OVARIAN FAILURE 7, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, URBACH-WIETHE DISEASE, ADAMS-OLIVER SYNDROME 3, 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, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, 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, NIEMANN-PICK DISEASE, TYPE A, HAILEY-HAILEY DISEASE, CORNELIA DE LANGE SYNDROME 4, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), MYHRE SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, 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, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, GLYCOGEN STORAGE DISEASE XI, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TIETZ ALBINISM-DEAFNESS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, KABUKI SYNDROME 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, 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, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

PEX5, PDE4D, EZH2, CAV1, TNFRSF1A, EDNRA, APOB, TRAIP, SMAD3, MECP2, SMARCB1, RAD21, P2RY12, ACTB, FAS, GNAS, IKBKG, PIK3CA, COL3A1, ELOVL4, EBP, ALDOA, PHOX2B, F2, TBX3, MYO5A, TUBB, PPARG, MYH11, CDK5, DKC1, PRKAR1A, ALB, DSG1, BTK, FGF20, KMT2A, SOX10, SHANK3, PAX8, ADGRG6, KISS1R, IL10RA, CDKN2A, ENG, FGF3, KIF1B, EDAR, CASP8, TGFBR1, NPR2, COL1A1, SMARCA4, HLA-DQA1, NFKBIA, TGM1, MMP2, WNK1, LTBP4, PRF1, WAS, GFI1B, PDGFRB, HOXD13, CREBBP, ADGRE2, ECM1, B9D2, IKBKAP, IL2RG, CHRNG, RBPJ, SF3B4, TGFBR2, ITGA2, PTCH1, NR0B1, WNT7A, RASA1, GP1BA, GRIP1, ECHS1, FBLN5, GJA1, APOA1, FCGR2B, IL31RA, HLA-C, LPAR6, KCNH1, NME1, SMARCE1, IGF2, CLEC7A, FLT4, NOTCH2, PIK3CD, GP1BB, THRA, IL17RA, LRP1, FSHB, PIGT, CIITA, GATA2, LDHA, FGFR1, NOD2, EDA, LEP, PAX2, HNRNPK, PTCH2, ABCA1, JAK2, MSX2, PLCD1, DSP, NCSTN, ITGA6, NR1I3, PSEN1, GNAQ, IFNG, STAT1, ATP2C1, IL11RA, NRAS, LIPC, VPS33B, GP6, FTL, VEGFC, GLI3, CD81, ROR2, TMEM173, TNFRSF4, ALPL, KRIT1, TSHR, RAB18, PCNA, RPS6KA3, TP63, TYK2, NOTCH1, ACD, SMC3, NFKB2, MC1R, EDARADD, GATA1, LCK, NCF1, MEN1, DDX3X, ANTXR1, HFE2, IL7R, IL2RA, SOX9, TGFB2, CTNNB1, SMAD4, DVL3, VWF, SMPD1, SMAD9, GDNF, GHR, LMX1B, MC2R, CHRM3, FLNA, RORC, CHRNA1, VHL, LEMD3, COL4A1, ACVR1, LRP2, BMP2, FOXP3, HRAS, EGFR, FZD6, IL1RN, AKT1, MMP1, KRAS, ITPR2, VDR, FLNB, WNT5A, FOXP1, CTSK, DDX58, P2RX1, RUNX1, LDLR, PRKCD, HLA-DQB1, ELN, HFE, SMARCA2, MAP2K2, IHH, UNC119, COL1A2, CDK4, TINF2, CDKN1C, MITF, EFNB1, NF1, BMPR1B, FGFR3, HAMP, MAF, BRAF, ACVRL1, PSTPIP1, EFEMP2, DLX5, PLG, KIT, ZAP70, GDF2, PTEN, POLA1, JUP, SERPINC1, SH2B3, AR, SLC2A1, KRT14, NGF, MASP1, B2M, KRT17, SLC12A6, SEC23B, PAX3, DLL4, ARID1A, ASCL1, NR5A1, KLC2, NTRK1, TRAF3IP2, PTPN11, ATM, SOS2, ITGA2B, KMT2D, GJB2, CLDN1, SPTLC1, NFKB1, STAT3, MAP3K1, NOG, INSR, HLA-B, MVD, WNT10A, TBXA2R, SOS1, BLM, CXCR4, FGFR2, PTPRC, PLCG2, DEAF1, CD3G, LIFR, ABCC9, PDGFRA, BDNF, FBN1, RET, ERCC3, SUFU, CAST, CBL, EDNRB, ETV6, FASLG, GNRHR, PRKACA, GNRH1, EPOR, HTRA1, ADAM10, NR3C1, ADAM17, HSPG2, ESR1, ITGB3, HPGD, KL, KIF1BP, MTOR, PIK3R1

ADAMS-OLIVER SYNDROME 5, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, WEAVER SYNDROME, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, HAJDU-CHENEY SYNDROME, ANDROGEN INSENSITIVITY, SHORT SYNDROME, MOWAT-WILSON SYNDROME, COFFIN-SIRIS SYNDROME 4, PREMATURE OVARIAN FAILURE 7, BRANCHIOOCULOFACIAL SYNDROME, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, EHLERS-DANLOS SYNDROME, TYPE 3, SECKEL SYNDROME 2, GLUCOCORTICOID RESISTANCE, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ADAMS-OLIVER SYNDROME 3, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, PARIETAL FORAMINA 2, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, CRANIOSYNOSTOSIS 3, NICOLAIDES-BARAITSER SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, LOEYS-DIETZ SYNDROME 2, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, PARIETAL FORAMINA 1, WIEDEMANN-STEINER SYNDROME, RUBINSTEIN-TAYBI SYNDROME, BRACHYDACTYLY, TYPE A1, D, OHDO SYNDROME, X-LINKED, WAARDENBURG SYNDROME, TYPE 4C, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, PROTEUS SYNDROME, SOMATIC

GATA1, TCF12, SMARCA2, AR, PQBP1, CTNNB1, MED13L, SMAD4, BMPR1B, DVL3, NR5A1, NOTCH1, STAT1, RBBP8, GATA2, PPARG, STAT3, NOTCH2, AKT1, SMARCA4, SOX10, ESR1, KMT2A, CREBBP, DLX5, MED12, MSX1, POU1F1, EZH2, SOX11, TGFBR2, ZEB2, SMAD3, TFAP2A, NR3C1, ACVR1, MSX2, ALX4, RBPJ, GDF2, PIK3R1

ADAMS-OLIVER SYNDROME 5, WAARDENBURG SYNDROME, TYPE 2A, BASAL CELL NEVUS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, WEAVER SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LOEYS-DIETZ SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COFFIN-SIRIS SYNDROME 4, PREMATURE OVARIAN FAILURE 7, BRANCHIOOCULOFACIAL SYNDROME, CRANIOFRONTONASAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, EHLERS-DANLOS SYNDROME, TYPE 3, MUIR-TORRE SYNDROME, GLUCOCORTICOID RESISTANCE, NOONAN SYNDROME 10, SOTOS SYNDROME 1, WAARDENBURG SYNDROME, TYPE 3, TRICHODONTOOSSEOUS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ADULT SYNDROME, ADAMS-OLIVER SYNDROME 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, MOWAT-WILSON SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PARIETAL FORAMINA 2, TIETZ ALBINISM-DEAFNESS SYNDROME, KLIPPEL-FEIL SYNDROME 2, LIMB-MAMMARY SYNDROME, MYOTONIC DYSTROPHY 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, AU-KLINE SYNDROME, ANDROGEN INSENSITIVITY, WAARDENBURG SYNDROME, TYPE 1, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, LOEYS-DIETZ SYNDROME 2, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, EMBERGER SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, PCWH SYNDROME, COFFIN-LOWRY SYNDROME, FRONTONASAL DYSPLASIA 2, PARIETAL FORAMINA 1, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, BRACHYDACTYLY, TYPE A1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ACROCAPITOFEMORAL DYSPLASIA, WAARDENBURG SYNDROME, TYPE 4C, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

GATA1, SOX9, EZH2, SMAD3, SMARCA4, RUNX1, HNRNPK, TFAP2A, CREBBP, DVL3, IGF2, NR5A1, NOTCH1, MAF, CPOX, TBX3, TP63, GATA2, NFKB1, PPARG, CTNNB1, NSD1, BMP2, HOXC13, BRCA1, AKT1, IHH, NGF, MSH2, VDR, ESR1, WNT5A, ASCL1, DLX5, CDKN2A, POU1F1, SOX18, LZTR1, SUFU, MEN1, GDNF, SOX11, AR, ETV6, HOXD13, EGFR, DLX3, EFNB1, MITF, ZEB2, MEOX1, CNBP, NR3C1, RPS6KA3, STAT3, TGFBR2, MSX2, ALX4, RBPJ, SOX10, PTEN, PAX3

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, REVESZ SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, LYMPHEDEMA, HEREDITARY, ID, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, NICOLAIDES-BARAITSER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, DIGEORGE SYNDROME, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, BRACHYDACTYLY, TYPE A1, D, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, PRIMROSE SYNDROME, MELNICK-NEEDLES SYNDROME, TRICHODONTOOSSEOUS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, 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}, SOTOS SYNDROME 1, DYSAUTONOMIA, FAMILIAL, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PARIETAL FORAMINA 2, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTIPLE SYNOSTOSES SYNDROME 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, AGAMMAGLOBULINEMIA, X-LINKED 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, KABUKI SYNDROME 2, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, COCKAYNE SYNDROME, TYPE A, DIAPHANOSPONDYLODYSOSTOSIS, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, BOHRING-OPITZ SYNDROME, ULNAR-MAMMARY SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ISCHIOCOXOPODOPATELLAR SYNDROME, OCULODENTODIGITAL DYSPLASIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, HYPOCHONDROPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, GLASS SYNDROME, HEMOCHROMATOSIS, TYPE 2B, PREMATURE OVARIAN FAILURE 7, MULIBREY NANISM, MENTAL RETARDATION, X-LINKED 102, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, SECKEL SYNDROME 2, NAXOS DISEASE, DYSKERATOSIS CONGENITA, X-LINKED, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, EHLERS-DANLOS SYNDROME, TYPE 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, MULLERIAN APLASIA AND HYPERANDROGENISM, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COFFIN-SIRIS SYNDROME 3, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CORNELIA DE LANGE SYNDROME 2, OCULOECTODERMAL SYNDROME, INCONTINENTIA PIGMENTI, TIETZ ALBINISM-DEAFNESS SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, KOOLEN-DE VRIES SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, SOTOS SYNDROME 2, HAY-WELLS SYNDROME, LOEYS-DIETZ SYNDROME 5, BRACHYDACTYLY, TYPE A1, UV-SENSITIVE SYNDROME 1, FRONTONASAL DYSPLASIA 1, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, EMBERGER SYNDROME, ?OROFACIAL CLEFT 15, {PSORIASIS SUSCEPTIBILITY 1}, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, WEAVER SYNDROME, PROLIDASE DEFICIENCY, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, KLEEFSTRA SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ARTHROGRYPOSIS, DISTAL, TYPE 8, CORNELIA DE LANGE SYNDROME 4, ATAXIA-TELANGIECTASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, NON-IMMUNE HYDROPS FETALIS, NOONAN SYNDROME 10, MYOTONIC DYSTROPHY 2, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, WIEDEMANN-STEINER SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RENPENNING SYNDROME, NOONAN SYNDROME 4, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, APERT SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MUENKE SYNDROME, GENITOPATELLAR SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, WAARDENBURG SYNDROME, TYPE 1, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ABLEPHARON-MACROSTOMIA SYNDROME, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, AMYOTROPHY, HEREDITARY NEURALGIC, PROUD SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CORNELIA DE LANGE SYNDROME 5, BECKWITH-WIEDEMANN SYNDROME, WAARDENBURG SYNDROME, TYPE 3, ACROCAPITOFEMORAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, ADERMATOGLYPHIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, CHOPS SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, NAIL-PATELLA SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, OHDO SYNDROME, X-LINKED, PAPILLORENAL SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, KOSAKI OVERGROWTH SYNDROME, BARBER-SAY SYNDROME, OPITZ-KAVEGGIA SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, KABUKI SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, IMMUNODEFICIENCY 42, ANDROGEN INSENSITIVITY, ERYTHROCYTOSIS, FAMILIAL, 2, THROMBOCYTOPENIA 5, WAARDENBURG SYNDROME, TYPE 2A, MARSHALL-SMITH SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, WARBURG MICRO SYNDROME 1, IMMUNODEFICIENCY 38, BRANCHIOOCULOFACIAL SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, HYPOPHOSPHATASIA, CHILDHOOD, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, XERODERMA PIGMENTOSUM, GROUP D, BARAITSER-WINTER SYNDROME 1, GALLBLADDER DISEASE 1, PRADER-WILLI SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MISMATCH REPAIR CANCER SYNDROME, HUTCHINSON-GILFORD PROGERIA, CRANIOSYNOSTOSIS 3, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, ADULT SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ESTROGEN RESISTANCE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, CRANIOSYNOSTOSIS 6, UV-SENSITIVE SYNDROME 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, KLIPPEL-FEIL SYNDROME 2, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, NEUROFIBROMATOSIS, TYPE 2, BRACHYDACTYLY, TYPE B1, TUMOR PREDISPOSITION SYNDROME, MYHRE SYNDROME, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, HOLOPROSENCEPHALY-5, LOEYS-DIETZ SYNDROME 2, PALLISTER-HALL SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LOEYS-DIETZ SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TCF12, SMARCAD1, BRCA2, EZH2, F2, APOB, LMNA, COL1A1, CNBP, RAD21, ACTB, GNAS, IKBKG, G6PC, SMARCA4, TAP1, ALDOA, UBN1, TBX3, RBBP8, SEPT9, PPARG, LEP, ZIC1, DKC1, ALB, CDK4, WNT5A, ZEB2, KMT2A, STK11, ZBTB20, NOG, AR, ERCC6, MMP1, PTPN11, NFKBIA, TGM1, NBN, RFXAP, WNK1, EFEMP2, BMPER, ERCC2, TGFBR2, DLL4, MEOX1, MYH3, CREBBP, ECM1, MSX2, IKBKAP, SPECC1L, SF3B4, PDGFRB, SMARCB1, PTCH1, ALX4, SOX9, NF2, GRIP1, NR0B1, KRAS, KDM6A, RUNX1, CBL, TWIST2, TFAP2A, CYP7B1, ISG15, IGF2, ETV6, NOTCH1, THRA, MYO5A, ERCC3, GDNF, CIITA, SKIV2L, POU1F1, TAF6, PAX2, PIK3CD, BAP1, AFF4, ABCA1, IFNG, MECOM, DLX4, SMARCE1, KMT2C, NR1I3, JAK2, FBN2, STAT1, VPS33B, ZIC3, KAT6B, JUP, MEN1, VEGFC, RBPJ, ROR2, NFKB2, ALPL, HOXC13, MLH1, HOXA11, TNNT2, ALAS2, PCNA, RPS6KA3, STAT3, ERCC8, NDUFA10, ACD, SMC3, PCK1, PAX8, GATA1, TBX1, MECP2, BANF1, DDX3X, VHL, GJA1, SMARCA2, SUFU, CTNNB1, SMAD4, CDK5, DVL3, MITF, ZIC2, SMAD9, TAF1, GHR, LMX1B, RAB3GAP1, TGFB3, FLNA, MED12, APC, RORC, PQBP1, BMP2, ACVR1, TUBB, FOXP3, HRAS, BRCA1, MTOR, NDN, AKT1, RSPO1, KANSL1, VDR, FOXP1, DDX58, RBM8A, LDLR, GFI1B, EGFR, SOX18, ABCB4, FOXL2, IHH, GLI3, SMC1A, CDKN1C, HSPA9, PTEN, FGFR3, LZTR1, HAMP, MAF, GNRH1, ACVRL1, BTK, DLX5, PAH, GDF2, AIRE, NME1, SLC2A1, SMAD3, NGF, HDAC8, HNRNPK, PAX3, IRF6, ASXL1, DHCR7, ASCL1, NR5A1, NTRK1, PTRF, PEPD, ATM, MSX1, KMT2D, CDKN2A, BMPR1B, NSD1, NFKB1, TP63, TBX4, RFX5, TRPS1, RFXANK, SOS1, ALX3, MSH2, CXCR4, FGFR2, TINF2, FOXD3, CPOX, GPX4, BDNF, RET, ARX, SOX11, EDNRB, HOXD13, HLA-C, WNT4, DLX3, SFTPC, OCLN, MYH11, NFIX, NR3C1, HSPG2, ESR1, CASP8, PIK3R1, TRIM37, SOX10, SATB2, GATA2, SKI, MMP2

BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, {PSORIASIS SUSCEPTIBILITY 1}

TAP1, TAPBP, HLA-B, HLA-C, TAP2

MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, PAPILLORENAL SYNDROME, ATROPHODERMA VERMICULATUM, REVESZ SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FANCONI ANEMIA, COMPLEMENTATION GROUP P, EHLERS-DANLOS SYNDROME, TYPE 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HYPEROXALURIA, PRIMARY, TYPE 1, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, WARBURG MICRO SYNDROME 2, MEIER-GORLIN SYNDROME 1, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HERMANSKY-PUDLAK SYNDROME 1, LEOPARD SYNDROME 3, PERIODONTITIS 1, JUVENILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FAMILIAL MEDITERRANEAN FEVER, AR, MULTIPLE SYNOSTOSES SYNDROME 1, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-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, IMMUNODEFICIENCY 43, DOOR SYNDROME, NEUROFIBROMATOSIS, FAMILIAL SPINAL, HAIM-MUNK SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ANGELMAN SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OLIGODONTIA-COLORECTAL CANCER SYNDROME, RUBINSTEIN-TAYBI SYNDROME, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, NAXOS DISEASE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, OCCIPITAL HORN SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MARTSOLF SYNDROME, 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, HYPERLIPOPROTEINEMIA, TYPE IB, WARBURG MICRO SYNDROME 3, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, SCLEROSTEOSIS 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, BARAITSER-WINTER SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, UV-SENSITIVE SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, NON-IMMUNE HYDROPS FETALIS, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, TRICHOHEPATOENTERIC SYNDROME 1, LOWE SYNDROME, NOONAN SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OCULOECTODERMAL SYNDROME, CORNELIA DE LANGE SYNDROME 4, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, WARBURG MICRO SYNDROME 4, 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}, NEUROFIBROMATOSIS, TYPE 2, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, PAPILLON-LEFEVRE SYNDROME, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, GLYCOGEN STORAGE DISEASE XI, PSEUDOHYPOPARATHYROIDISM IA, MENKES DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, SECKEL SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, WARBURG MICRO SYNDROME 1, LYMPHEDEMA, HEREDITARY, ID, BRACHYDACTYLY, TYPE A1, D, ANDROGEN INSENSITIVITY, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, NOONAN SYNDROME 7, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, WISKOTT-ALDRICH SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, LEOPARD SYNDROME 1, LOEYS-DIETZ SYNDROME 1, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, TANGIER DISEASE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, CAV1, FGFR1, APOB, COL1A1, RAD21, ORC1, ACTB, GNAS, IKBKG, F2, KRIT1, MYO5A, PPARG, CDK5, PRKAR1A, WNT5A, BTK, B2M, STK11, CDKN2A, NOG, RAB7A, TBC1D24, PNPLA2, PIK3CA, NOTCH1, GFI1B, MEFV, OCRL, SMAD4, CREBBP, CTNNB1, PTEN, NF2, LDHA, APOA2, KRAS, RUNX1, MAP2K2, EGFR, AR, IGF2, PIGT, PKLR, ERCC3, TTC37, MTOR, EDNRA, PIK3CD, AGXT, NFKBIA, ESR1, CBL, JAK2, STAT1, JUP, MEN1, VEGFC, TNFRSF1A, NLRP1, RAB18, PCNA, WAS, AXIN2, BRAF, ACD, ARHGAP31, NCF1, TGFBR1, ITGB3, GJA1, TGFB2, RAB3GAP2, DVL3, RASA1, GDNF, PAX2, RAB3GAP1, RIN2, TBC1D20, BMP2, TUBB, FKBP14, AKT1, GNAQ, CYBB, DTNBP1, APOA1, LDLR, UBE3A, FASLG, CASP8, EZH2, PSTPIP1, NF1, NOD2, NLRP12, LCK, FLNA, MYH11, NGF, PRKCD, HNRNPK, BMPR1B, NTRK1, MMP2, PTPN11, CXCR4, ATP7A, STAT3, MAP3K1, INSR, APOC2, SOS1, LRP4, CTSC, BDNF, ERCC6, SLX4, APC, HRAS, LRP2, LRP1, SMAD3, ATR, HSPG2, NEB, TINF2, PIK3R1

{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}, TANGIER DISEASE, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A

APOA2, APOB, APOA1, ABCA12, PCSK9, ABCA1

TUBEROUS SCLEROSIS 2, ?IMMUNODEFICIENCY 22, POPLITEAL PTERYGIUM SYNDROME 1, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 43, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {PSORIASIS SUSCEPTIBILITY 1}

LCK, TAP1, B2M, IFNG, HLA-C, IRF6, HLA-DQB1, HLA-B, HLA-DQA1, HFE, TAPBP

PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, KAHRIZI SYNDROME, EVEN-PLUS SYNDROME, HYPERBILIVERDINEMIA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, FANCONI ANEMIA, COMPLEMENTATION GROUP A, PHYTANIC ACID STORAGE DISEASE, COPROPORPHYRIA, HARDEROPORPHYRIA, SHORT SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, 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, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PARAGANGLIOMAS 4, ?REYNOLDS SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, PROTEUS SYNDROME, SOMATIC

SRD5A2, DHFR, CPOX, PPOX, HSPA9, FANCA, AKR1D1, PEX5, SDHB, SDHA, SDHD, DHCR7, PEX7, COX15, SDHC, SRD5A3, BLVRA, LBR, MSMO1, AKT1, PIK3R1

BARAITSER-WINTER SYNDROME 1, ATROPHODERMA VERMICULATUM, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, HYPER-IGE RECURRENT INFECTION SYNDROME, PCWH SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, WAARDENBURG SYNDROME, TYPE 4A, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, DYSAUTONOMIA, FAMILIAL, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RUBINSTEIN-TAYBI SYNDROME, ACNE INVERSA, FAMILIAL, 3, NEUROFIBROMATOSIS, FAMILIAL SPINAL, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, IMMUNODEFICIENCY 35, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HAJDU-CHENEY SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CEREBRAL CAVERNOUS MALFORMATIONS-2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, NIEMANN-PICK DISEASE, TYPE A, TIMOTHY SYNDROME, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, WIEDEMANN-STEINER 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}, WISKOTT-ALDRICH SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, CORNELIA DE LANGE SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, 46XY SEX REVERSAL 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, PREMATURE AGING SYNDROME, PENTTINEN TYPE, NEUROFIBROMATOSIS, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, PREMATURE OVARIAN FAILURE 7, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, OMENN SYNDROME, GRISCELLI SYNDROME, TYPE 2, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AU-KLINE 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, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NF1, CAV1, APOB, ACTB, FAS, PIGT, TBXA2R, PLCD1, F2, RAB27A, PPARG, CDK5, BTK, SMPD1, SOX10, KMT2A, CDKN2A, SNX14, TERT, PIK3CA, PDGFRB, CREBBP, IKBKAP, TGFBR2, SOX9, RASA1, APOA2, MMP2, APOA1, CASP8, HLA-C, NME1, PKLR, GLUL, LRP1, MTOR, PSEN1, PIK3CD, ABCA1, CBL, JAK2, CCM2, TGFBR1, KRIT1, RAG2, ATP8B1, TP63, TYK2, ACD, FASLG, NCF1, ITGB3, CTNNB1, SMAD4, DVL3, STAT1, GJA1, TUBB, HRAS, AKT1, ITPR2, LDLR, LRP2, SH3PXD2B, PSTPIP1, PTEN, TBX3, ECHS1, SNAP29, TPI1, KIT, STAT3, LCK, FLNA, NGF, PRKCD, HNRNPK, NR5A1, PTRF, PTPN11, NFKB1, WAS, MAP3K1, CACNA1C, INSR, NOTCH2, PLG, SOS1, ALDOA, PCNA, EDNRB, EGFR, GNRH1, SMAD3, ALB, HSPG2, ESR1, KIF1BP, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, PREMATURE OVARIAN FAILURE 7, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, FANCONI ANEMIA, COMPLEMENTATION GROUP A, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, GLUCOCORTICOID RESISTANCE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, DYSAUTONOMIA, FAMILIAL, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PARIETAL FORAMINA 2, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, IMMUNODEFICIENCY 43, COCKAYNE SYNDROME, TYPE A, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, BOHRING-OPITZ SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, NAXOS DISEASE, LOEYS-DIETZ SYNDROME 3, COFFIN-SIRIS SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, FLOATING-HARBOR SYNDROME, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OHDO SYNDROME, X-LINKED, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MULTIPLE ENDOCRINE NEOPLASIA 1, WAARDENBURG SYNDROME, TYPE 3, BARAITSER-WINTER SYNDROME 1, BRACHYDACTYLY, TYPE A1, D, WAARDENBURG SYNDROME, TYPE 4C, WAARDENBURG SYNDROME, TYPE 2A, EMBERGER SYNDROME, WEAVER SYNDROME, EVEN-PLUS SYNDROME, KLEEFSTRA SYNDROME, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, COFFIN-SIRIS SYNDROME 4, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, WIEDEMANN-STEINER SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, EPIDERMAL NEVUS, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, COPROPORPHYRIA, HARDEROPORPHYRIA, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, PARIETAL FORAMINA 1, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46XY SEX REVERSAL 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, COFFIN-SIRIS SYNDROME 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, BRANCHIOOCULOFACIAL SYNDROME, ANDROGEN INSENSITIVITY, MUIR-TORRE SYNDROME, MYHRE SYNDROME, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, UV-SENSITIVE SYNDROME 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, TIETZ ALBINISM-DEAFNESS SYNDROME, PALLISTER-HALL SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, KABUKI SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, AU-KLINE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

KMT2A, ACTB, IKBKG, PPARG, CDK5, CDK4, CTNNB1, SOX10, B2M, CDKN2A, MITF, CREBBP, POU1F1, IKBKAP, RBPJ, SF3B4, HOXD13, SOX9, GRIP1, SMARCA4, RUNX1, IL31RA, LZTR1, AR, NOTCH1, THRA, ERCC3, CIITA, GATA2, TAF6, RFXAP, MSX2, SMARCE1, NR1I3, NFKBIA, JUP, MEN1, TAF1, STAT3, ALX4, GDF2, PAX8, GATA1, DDX3X, PQBP1, GJA1, SMARCA2, SMAD4, GDNF, MECP2, NFKB2, VHL, TUBB, BRCA1, AKT1, MMP2, VDR, MED12, UBE3A, ARID1B, CASP8, EZH2, GLI3, ERCC8, HSPA9, PTEN, TFAP2A, ABCB11, DLX5, SMARCB1, HNRNPK, PAX3, BMPR1B, ASXL1, NR5A1, SRCAP, ATM, MSX1, KMT2D, NFKB1, ACVR1, MAP3K1, ARID1A, MSH2, CPOX, PUS1, SOX11, HRAS, SMAD3, NR3C1, ESR1, MTOR, SKI

MULLERIAN APLASIA AND HYPERANDROGENISM, LYSYL HYDROXYLASE 3 DEFICIENCY, BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, FANCONI ANEMIA, COMPLEMENTATION GROUP A, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIGEORGE SYNDROME, TARP SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, PAPILLORENAL SYNDROME, GLUCOCORTICOID RESISTANCE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WERNER SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PARIETAL FORAMINA 2, OHDO SYNDROME, X-LINKED, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, KABUKI SYNDROME 2, SCALP-EAR-NIPPLE SYNDROME, RUBINSTEIN-TAYBI SYNDROME, COCKAYNE SYNDROME, TYPE A, DIAPHANOSPONDYLODYSOSTOSIS, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, BOHRING-OPITZ SYNDROME, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, 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, SECKEL SYNDROME 2, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, NAXOS DISEASE, SOTOS SYNDROME 1, LOEYS-DIETZ SYNDROME 3, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ROTHMUND-THOMSON SYNDROME, COFFIN-SIRIS SYNDROME 3, FLOATING-HARBOR SYNDROME, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CORNELIA DE LANGE SYNDROME 2, TIETZ ALBINISM-DEAFNESS SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MULTIPLE ENDOCRINE NEOPLASIA 1, WAARDENBURG SYNDROME, TYPE 3, BLEEDING DISORDER, PLATELET-TYPE, 17, BARAITSER-WINTER SYNDROME 1, BRACHYDACTYLY, TYPE A1, D, WAARDENBURG SYNDROME, TYPE 4C, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, WAARDENBURG SYNDROME, TYPE 2A, EMBERGER SYNDROME, WEAVER SYNDROME, CRANIOSYNOSTOSIS 3, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, KLEEFSTRA SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OCULOECTODERMAL SYNDROME, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, WIEDEMANN-STEINER SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, UV-SENSITIVE SYNDROME 2, COFFIN-SIRIS SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, GENITOPATELLAR SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DARIER DISEASE, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EPIDERMAL NEVUS, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, ADERMATOGLYPHIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, NAIL-PATELLA SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, GLYCOGEN STORAGE DISEASE XI, RENPENNING SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PARIETAL FORAMINA 1, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, 46XY SEX REVERSAL 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, BRANCHIOOCULOFACIAL SYNDROME, ANDROGEN INSENSITIVITY, MUIR-TORRE SYNDROME, MYHRE SYNDROME, OPITZ-KAVEGGIA SYNDROME, ULNAR-MAMMARY SYNDROME, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, DYSAUTONOMIA, FAMILIAL, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, PALLISTER-HALL SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, KABUKI SYNDROME 1, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, AU-KLINE SYNDROME, BRACHYDACTYLY, TYPE B1, ACROKERATOSIS VERRUCIFORMIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TCF12, SMARCAD1, PEX14, MITF, MMP2, WNT5A, MED13L, ACTB, IKBKG, TBX3, RBBP8, PPARG, CDK5, RECQL4, CTNNB1, KDM6A, KMT2A, CDKN2A, BCOR, BMPER, GFI1B, WNT4, CREBBP, POU1F1, MSH2, IKBKAP, RBPJ, SF3B4, HOXD13, SMARCB1, SHOC2, GRIP1, KRAS, RUNX1, IL31RA, LZTR1, AR, WRN, NOTCH1, THRA, ERCC3, CIITA, GATA2, PLOD3, TAF6, MECP2, RFXAP, NR0B1, MSX2, SMARCE1, NR1I3, NFKBIA, RBM10, JUP, KAT6B, MEN1, TAF1, ROR2, KCTD1, PCNA, STAT3, ERCC8, TBX1, SMC3, GDF2, PAX8, GATA1, DDX3X, VHL, GJA1, SOX9, SUFU, SMAD4, LDHA, GDNF, PAX2, LMX1B, NFKB2, PQBP1, BMP2, TUBB, FOXP3, BRCA1, AKT1, SMARCA4, VDR, LRPPRC, AXIN2, MED12, UBE3A, ARID1B, CASP8, EZH2, GLI3, SMC1A, HSPA9, EFNB1, PTEN, TFAP2A, ABCB11, MAF, SOX10, DLX5, EHMT1, LCK, SLC2A1, NGF, PRKCD, HNRNPK, PAX3, ATP2A2, ASXL1, NR5A1, LYST, RFXANK, ATM, MSX1, KMT2D, BMPR1B, NSD1, NFKB1, ACVR1, MAP3K1, SRCAP, SMARCA2, ARID1A, BLM, ALX4, CPOX, PUS1, BDNF, SOX11, HRAS, EGFR, CDK4, NHP2, SMAD3, NR3C1, ESR1, SKI, JAK2, MTOR, PIK3R1

ATROPHODERMA VERMICULATUM, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, AICARDI-GOUTIERES SYNDROME 7, SELECTIVE T-CELL DEFECT, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SECKEL SYNDROME 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 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, 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, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, OGDEN SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MUCKLE-WELLS SYNDROME, WARSAW BREAKAGE SYNDROME, NEUROFIBROMATOSIS, FAMILIAL SPINAL, IMMUNODEFICIENCY 35, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, SECKEL SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, OVARIAN DYSGENESIS 4, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, ANGELMAN SYNDROME, FLOATING-HARBOR SYNDROME, CRANIOSYNOSTOSIS 3, 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, HEIMLER SYNDROME 2, PSEUDOHYPOPARATHYROIDISM IA, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP D1, HYPER-IGD SYNDROME, 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, 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, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, POROKERATOSIS 3, MULTIPLE TYPES, ?AL-GAZALI-BAKALINOVA SYNDROME, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, TUBEROUS SCLEROSIS-1, HERMANSKY-PUDLAK SYNDROME 2, NAIL-PATELLA SYNDROME, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MENKES DISEASE, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, HAY-WELLS SYNDROME, TARP SYNDROME, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, LIVER FAILURE, TRANSIENT INFANTILE, XERODERMA PIGMENTOSUM, GROUP B, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, COLE DISEASE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, GLUTAMINE DEFICIENCY, CONGENITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, DONNAI-BARROW SYNDROME, MYOTONIC DYSTROPHY 1, NIJMEGEN BREAKAGE SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, PACHYONYCHIA CONGENITA 2, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, ?REYNOLDS SYNDROME, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, GRISCELLI SYNDROME, TYPE 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, 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, CUTIS LAXA, AUTOSOMAL DOMINANT 3, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, BROOKE-SPIEGLER SYNDROME, MULIBREY NANISM, CINCA SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, NOONAN SYNDROME 9, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, COFFIN-SIRIS SYNDROME 3, ACNE INVERSA, FAMILIAL, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ?CHILBLAIN LUPUS 2, CORTISONE REDUCTASE DEFICIENCY 1, CYLINDROMATOSIS, FAMILIAL, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, EPIDERMAL NEVUS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, LEGIUS SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, 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, JOUBERT SYNDROME 10, NOONAN SYNDROME 8, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, PROLIDASE DEFICIENCY, EVEN-PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, ARTHROGRYPOSIS, DISTAL, TYPE 8, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, LEIOMYOMATOSIS AND RENAL CELL CANCER, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, KINDLER SYNDROME, NOONAN SYNDROME 10, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, ESTROGEN RESISTANCE, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, BECKWITH-WIEDEMANN SYNDROME, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?PRUNE BELLY SYNDROME, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, DUBIN-JOHNSON SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, [HISTIDINEMIA], ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, POROKERATOSIS 1, MULTIPLE TYPES, ERYTHROCYTOSIS, FAMILIAL, 2, THROMBOCYTOPENIA 5, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, GALLBLADDER DISEASE 1, LESCH-NYHAN SYNDROME, ADULT SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, FUHRMANN SYNDROME, BRACHYDACTYLY, TYPE B1, TUMOR PREDISPOSITION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, GRISCELLI SYNDROME, TYPE 2, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, XERODERMA PIGMENTOSUM, GROUP D, LOEYS-DIETZ SYNDROME 4, ACROKERATOSIS VERRUCIFORMIS, WARBURG MICRO SYNDROME 3, REVESZ SYNDROME, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, C2 DEFICIENCY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, COCKAYNE SYNDROME, TYPE B, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AMYOTROPHY, HEREDITARY NEURALGIC, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, IMMUNODEFICIENCY 43, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MOYAMOYA 6 WITH ACHALASIA, LEPRECHAUNISM, MECKEL SYNDROME 10, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, NEU-LAXOVA SYNDROME 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FILS SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, 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, LIMB-MAMMARY SYNDROME, OHDO SYNDROME, X-LINKED, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, ?IMMUNODEFICIENCY 13, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, 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}, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, WISKOTT-ALDRICH SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, OCULOECTODERMAL SYNDROME, HYPOTRICHOSIS 11, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, XERODERMA PIGMENTOSUM, GROUP C, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, GALACTOSE EPIMERASE DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, KOSAKI OVERGROWTH SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, 46XY SEX REVERSAL 6, IMMUNODEFICIENCY 38, BRACHYDACTYLY, TYPE A1, D, MUIR-TORRE SYNDROME, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, OROFACIODIGITAL SYNDROME I, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, AICARDI-GOUTIERES SYNDROME 5, STEATOCYSTOMA MULTIPLEX, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, PALLISTER-HALL SYNDROME, OCCIPITAL HORN 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, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 20, GLUCOCORTICOID RESISTANCE, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, ZIMMERMANN-LABAND SYNDROME 2, MEIER-GORLIN SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, GRISCELLI SYNDROME, TYPE 1, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, AGAMMAGLOBULINEMIA, X-LINKED 1, ACNE INVERSA, FAMILIAL, 3, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, RUBINSTEIN-TAYBI SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, NOONAN SYNDROME 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, DIGITAL CLUBBING, ISOLATED CONGENITAL, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PYRUVATE KINASE DEFICIENCY, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, URBACH-WIETHE DISEASE, BRUCK SYNDROME 2, ADAMS-OLIVER SYNDROME 3, ROTHMUND-THOMSON SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, UV-SENSITIVE SYNDROME 1, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, FUMARASE DEFICIENCY, LOWE SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HAILEY-HAILEY DISEASE, CORNELIA DE LANGE SYNDROME 4, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, PSORIASIS 2, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?APLASIA CUTIS CONGENITA, NONSYNDROMIC, RESTRICTIVE DERMOPATHY, LETHAL, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, PERLMAN SYNDROME, DARIER DISEASE, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {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, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, GLYCOGEN STORAGE DISEASE XI, PITYRIASIS RUBRA PILARIS, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, DIAMOND-BLACKFAN ANEMIA 1, GLUCOCORTICOID DEFICIENCY 4, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, KABUKI SYNDROME 1, SMITH-KINGSMORE SYNDROME, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TCF12, TSC2, MSH6, SNRPE, EDNRA, PDE4D, LBR, GNAS, CIITA, TBXA2R, FTL, KRIT1, RBBP8, DNAH14, NLRP12, B2M, KIF7, FH, H6PD, SEC23A, WNK1, ARSE, GFI1B, CYB5R3, CREBBP, EFNB1, MSX2, NF2, KL, APOA1, ISG15, SHMT1, MTOR, TAF6, PIK3CD, SPRED1, CBL, SMARCE1, JAK2, PAPSS2, ROR2, MASTL, TNNT2, ENPP1, TP63, TYK2, SMC3, MLPH, GATA1, BANF1, NCF2, CTNNB1, IL2RA, SMAD4, MTHFR, DVL3, ETV6, TPM2, IARS2, PCK1, NARS2, TUBB, AKT1, RIPK4, TPI1, LRPPRC, UBE3A, ABCB4, TRMU, EZH2, RECQL4, HOXA11, HSPA9, GNE, PEX5, XRCC4, XPC, NOD2, SART3, POLA1, CUL4B, SPTLC2, RAB18, HNRNPK, SRCAP, CXCR4, MAPRE2, DMPK, HOXC13, PCCA, RAB40AL, NLRP5, RAB7A, HLA-C, AP3B1, ATP2A2, TSC1, TAP2, SKI, PEX14, CYBA, TREX1, APOB, MMP1, NAA10, ACTB, PSEN1, DGUOK, DPH1, CYLD, PDE11A, CDK4, NPR2, TRNT1, NBN, POLE, MVD, IKBKAP, IL2RG, KIF1A, OCRL, SOX9, TGFB2, MMP2, ABCC6, NME1, NOTCH1, ERCC3, CBS, FGFR1, MYO18B, B9D2, PRKACG, C2, MYOM1, RBM10, VPS33B, MEN1, BAP1, FANCA, FGF23, BDNF, STAT3, BMS1, BRAF, SOS2, NCF1, ALPL, UBE2A, ADAR, RASA1, FLT4, SMAD9, NFKB2, BMP2, SMC1A, VDR, ASCL1, NAGLU, PMVK, LRP2, PSTPIP1, HK1, NF1, LZTR1, ABCB11, GUCY1A3, KIT, NDUFV1, PEX1, AR, HTRA1, CYBB, P2RX1, JAGN1, SDHA, NTRK1, PEPD, KMT2D, SPTLC1, MAP3K1, PLG, BLM, TINF2, THRA, OFD1, PCNA, APC, DHFR, SMAD3, ALDH18A1, NLRP3, HPGD, C10orf2, SKIV2L, ATIC, LMNA, F2, RAD21, IFIH1, FAS, IKBKG, PEX6, PLCD1, CAV1, ATP6V1B2, SEPT9, LEP, CDK5, STAP1, WNT5A, SOS1, STK11, PPP1R15B, FANCM, PIK3CA, PTPN11, ECM1, SLFN14, RBPJ, ADAM10, FANCD2, GRIP1, ACVR1, SMARCA4, RUNX1, CASP8, EGFR, CDKL5, NCSTN, IGF2, PARN, DCLRE1C, GATA2, ERCC6, ACVRL1, COL1A2, NNT, ABCA1, PLOD1, PLOD3, PSMB8, NFKBIA, ATL1, SAMHD1, TMEM173, MLH1, ATP8B1, RPS6KA3, WAS, ACD, PCCB, DIS3L2, PFKM, ITGB3, DKC1, HPRT1, KCNN4, DDX41, SDHD, PAX2, LMX1B, STAT1, CARD14, VHL, BCS1L, KIF1B, TNFRSF1A, PPOX, NR3C1, ATL3, ITPR2, PHGDH, FECH, POLD1, TERT, RPS19, PTEN, FGFR3, ABCD3, NRAS, SMARCB1, PRKCD, KRT17, MED25, PANK2, ATP7A, ITGB4, ERCC4, STAMBP, PCNT, NDUFA10, SUCLG1, ABCC9, PLOD2, RIT1, HRAS, POLG, OCLN, ZAP70, IRF6, TRIM37, FLNB, SMARCAD1, BRCA2, HLCS, LEMD3, COL1A1, CNBP, ORC1, PIGT, TAP1, DDX3X, RAB27A, MYO5A, PPARG, PRKAR1A, KISS1R, RBM28, BTK, CDKN2A, CLASP1, NEU1, HAL, ERCC2, PDGFRB, ABCC2, WNT7A, APOA2, KRAS, RBM8A, ABCA12, WRN, CPOX, LMNB1, LRP1, AGXT, MECOM, DDX11, IFNG, NSUN2, ATP2C1, PDGFRA, TGFBR1, TAF1, AP1S1, SF3B4, NLRP1, ABCA5, FERMT1, SEC23B, RORC, PLIN1, RET, GJA1, SMARCA2, MYH3, LDHA, VWF, MECP2, MVK, NLRC4, KIF22, SMARCAL1, GNAQ, GALE, BRCA1, DDX58, MED12, PHOX2B, MAP2K2, MCM4, CDKN1C, HOXD13, CHRM3, PAH, SUMF1, NHP2, LCK, FLNA, NGF, MCM9, BMPR1B, ATM, NFKB1, ESR1, PRKACA, INSR, PKLR, AKT3, MSH2, FGFR2, GLUL, PMS2, RTEL1, UNC119, FASLG, GNRH1, ABCB6, MYH11, ATR, CHKB, TGFBR2, MTRR, PIK3R1

MULTIPLE ENDOCRINE NEOPLASIA IIA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, OSTEOGLOPHONIC DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, KOSAKI OVERGROWTH SYNDROME, ADAMS-OLIVER SYNDROME 3, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, OCULOECTODERMAL SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, HYPOCHONDROPLASIA, SHORT SYNDROME, 46XY SEX REVERSAL 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACROMICRIC DYSPLASIA, BLEEDING DISORDER, PLATELET-TYPE, 17, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MUENKE SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, STIFF SKIN SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, APERT SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GELEOPHYSIC DYSPLASIA 2, WEILL-MARCHESANI SYNDROME 2, DOMINANT, TRIGONOCEPHALY 1, BRACHYDACTYLY, TYPE B1, SADDAN, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

F2, KRAS, FLT4, NTRK1, IGF2, PTPN11, FGFR1, MAP3K1, INSR, PLG, AKT1, NGF, FGFR2, PDGFRA, FBN1, RET, ROR2, EGFR, GFI1B, PDGFRB, FGFR3, STAT3, KIT, RBPJ, PIK3R1

MULTIPLE ENDOCRINE NEOPLASIA IIA, LOEYS-DIETZ SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, OSTEOGLOPHONIC DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ADAMS-OLIVER SYNDROME 3, KOSAKI OVERGROWTH SYNDROME, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, 46XY SEX REVERSAL 6, TRIGONOCEPHALY 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, IMMUNODEFICIENCY 35, HYPOCHONDROPLASIA, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RABSON-MENDENHALL SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SHPRINTZEN-GOLDBERG SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SHORT SYNDROME, ACROMICRIC DYSPLASIA, ADULT SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, ANGELMAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 7, MUENKE SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, LIMB-MAMMARY SYNDROME, APERT SYNDROME, STIFF SKIN SYNDROME, BRACHYDACTYLY, TYPE B1, MARFAN LIPODYSTROPHY SYNDROME, SADDAN, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, AGAMMAGLOBULINEMIA, X-LINKED 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, LEOPARD SYNDROME 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, HAY-WELLS SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, GELEOPHYSIC DYSPLASIA 2, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, COFFIN-LOWRY SYNDROME

LCK, TGFBR1, F2, FGFR3, NGF, PRKCD, MAP2K2, CDK5, FLT4, NTRK1, IGF2, PTPN11, FGFR1, TP63, MAP3K1, INSR, HRAS, PLG, AKT1, BTK, FGFR2, SEC23B, RUNX1, JAK2, UBE3A, FASLG, PDGFRA, FBN1, RET, POLD1, ROR2, EGFR, GFI1B, PDGFRB, ZAP70, MMP1, RPS6KA3, STAT3, PIK3R1, TYK2, KIT, RBPJ, SKI

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 5D, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, KNOBLOCH SYNDROME 1, ADAMS-OLIVER SYNDROME 3, VON WILLEBRAND DISEASE, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, RETICULATE ACROPIGMENTATION OF KITAMURA, VON WILLIBRAND DISEASE, TYPE 3, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, EHLERS-DANLOS SYNDROME, TYPE VIIC, PAPILLORENAL SYNDROME, GELEOPHYSIC DYSPLASIA 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ?OLMSTED SYNDROME, X-LINKED, WEILL-MARCHESANI SYNDROME 2, DOMINANT, FRONTOMETAPHYSEAL DYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ACROMICRIC DYSPLASIA, ERYTHROCYTOSIS, FAMILIAL, 2, FUHRMANN SYNDROME, CUTIS LAXA, AD, RESTRICTIVE DERMOPATHY, LETHAL, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ADAMS-OLIVER SYNDROME 5, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, STIFF SKIN SYNDROME, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, MARFAN LIPODYSTROPHY SYNDROME, GELEOPHYSIC DYSPLASIA 1, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, HETEROTAXY, VISCERAL, 7, AUTOSOMAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, AU-KLINE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

WNT7A, ADAMTS13, MMP21, FBLN5, PRKCD, HNRNPK, VWF, SMAD4, FERMT3, MMP2, PAX2, CXCR4, FLNA, ADAMTS18, VHL, STAT3, BMP2, NOTCH1, JAK2, ECE1, MMP1, ADAMTS10, FBN1, ZMPSTE24, ADAM17, PTEN, ADAMTS2, BMPER, MBTPS2, GFI1B, GNRH1, ADAM10, ECEL1, ADAMTSL2, RBPJ, DLL4, PIK3R1

LOEYS-DIETZ SYNDROME 1, BARAITSER-WINTER SYNDROME 1, LOEYS-DIETZ SYNDROME 5, NON-IMMUNE HYDROPS FETALIS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, OSTEOGENESIS IMPERFECTA, TYPE I, TANGIER DISEASE, ANGIOEDEMA, HEREDITARY, TYPES I AND II, VON WILLEBRAND DISEASE, TYPE 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, VON WILLIBRAND DISEASE, TYPE 3, {PSORIASIS SUSCEPTIBILITY 1}, CORNELIA DE LANGE SYNDROME 4, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HEMOCHROMATOSIS, TYPE 2B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, C2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, MYHRE SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, COMPLEMENT FACTOR I DEFICIENCY, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 3, 3MC SYNDROME 1, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HEMOPHILIA A, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, CARASIL SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, {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}, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, PAPILLON-LEFEVRE SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANDROGEN INSENSITIVITY, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, OSTEOGENESIS IMPERFECTA, TYPE II, SMITH-KINGSMORE SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PERIODONTITIS 1, JUVENILE, HAIM-MUNK SYNDROME, PROTEUS SYNDROME, SOMATIC, TYLOSIS WITH ESOPHAGEAL CANCER, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOB, ACTB, CAV1, MYH11, NGF, CDK5, MASP1, PROC, CASP8, ST14, RAD21, GP9, AR, F13A1, FLT4, IGF2, COL1A2, COL1A1, CREBBP, MMP2, TERT, GDF2, LEP, KITLG, CFI, BMP2, PLG, ALB, AKT1, ABCA1, LDLR, CBL, F2, MMP1, C2, F8, CTSC, RUNX1, IFNG, NEU1, EGFR, GPX4, PCSK9, RHBDF2, TGFBR1, TGFB3, CTNS, NME1, APC, HTRA1, FKBP14, HLA-C, SERPING1, SMAD3, SMAD4, HAMP, HSPG2, STAT3, HLA-DQA1, HFE, MTOR, VWF

MULLERIAN APLASIA AND HYPERANDROGENISM, PAPILLORENAL SYNDROME, BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, DIGEORGE SYNDROME, TARP SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WERNER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LYSYL HYDROXYLASE 3 DEFICIENCY, OHDO SYNDROME, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, SCALP-EAR-NIPPLE SYNDROME, TRIGONOCEPHALY 1, RUBINSTEIN-TAYBI SYNDROME, COCKAYNE SYNDROME, TYPE A, DIAPHANOSPONDYLODYSOSTOSIS, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, BOHRING-OPITZ SYNDROME, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, OCULODENTODIGITAL DYSPLASIA, HAJDU-CHENEY SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, 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, SECKEL SYNDROME 2, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, NAXOS DISEASE, SOTOS SYNDROME 1, LOEYS-DIETZ SYNDROME 3, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ROTHMUND-THOMSON SYNDROME, COFFIN-SIRIS SYNDROME 3, FLOATING-HARBOR SYNDROME, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, LIMB-MAMMARY SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CORNELIA DE LANGE SYNDROME 2, TIETZ ALBINISM-DEAFNESS SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MULTIPLE ENDOCRINE NEOPLASIA 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, BLEEDING DISORDER, PLATELET-TYPE, 17, BARAITSER-WINTER SYNDROME 1, HAY-WELLS SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, WAARDENBURG SYNDROME, TYPE 2A, EMBERGER SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, OCULOECTODERMAL SYNDROME, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, NOONAN SYNDROME 10, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, WIEDEMANN-STEINER SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, UV-SENSITIVE SYNDROME 2, COFFIN-SIRIS SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, GENITOPATELLAR SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DARIER DISEASE, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WAARDENBURG SYNDROME, TYPE 3, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, ADERMATOGLYPHIA, LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, NAIL-PATELLA SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, GLYCOGEN STORAGE DISEASE XI, RENPENNING SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PARIETAL FORAMINA 1, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, ERYTHROCYTOSIS, FAMILIAL, 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, BRANCHIOOCULOFACIAL SYNDROME, BRACHYDACTYLY, TYPE A1, D, HYPOPHOSPHATASIA, CHILDHOOD, MUIR-TORRE SYNDROME, MYHRE SYNDROME, OPITZ-KAVEGGIA SYNDROME, ULNAR-MAMMARY SYNDROME, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, CRANIOSYNOSTOSIS 3, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, ADULT SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DYSAUTONOMIA, FAMILIAL, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, PARIETAL FORAMINA 2, PALLISTER-HALL SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, KABUKI SYNDROME 1, CHEDIAK-HIGASHI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, AU-KLINE SYNDROME, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ACROKERATOSIS VERRUCIFORMIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TCF12, SMARCAD1, PEX14, MITF, MMP2, PLOD3, WNT5A, MED13L, ACTB, IKBKG, ALPL, TBX3, RBBP8, PPARG, CDK5, RECQL4, CTNNB1, SOX10, KMT2A, CDKN2A, BCOR, NOTCH1, BMPER, GFI1B, TGFBR2, DLL4, HOXD13, CREBBP, POU1F1, MSH2, IKBKAP, RBPJ, SF3B4, WNT4, SMARCB1, SHOC2, LDHA, GRIP1, ACVR1, KRAS, RUNX1, IL31RA, LZTR1, AR, WRN, NOTCH2, THRA, ERCC3, CIITA, GATA2, FGFR1, TAF6, MECP2, RFXAP, NR0B1, MSX2, SMARCE1, NR1I3, NFKBIA, RBM10, JUP, KAT6B, MEN1, TAF1, ROR2, KCTD1, PCNA, TP63, ERCC8, TBX1, SMC3, GDF2, PAX8, GATA1, DDX3X, VHL, GJA1, SOX9, SUFU, SMAD4, DVL3, GDNF, PAX2, LMX1B, STAT1, NFKB2, PQBP1, BMP2, TUBB, FOXP3, BRCA1, AKT1, SMARCA4, VDR, FOXP1, LRPPRC, AXIN2, MED12, UBE3A, ARID1B, CASP8, EZH2, GLI3, SMC1A, HSPA9, EFNB1, PTEN, TFAP2A, ABCB11, MAF, KDM6A, DLX5, EHMT1, LCK, SLC2A1, NGF, PRKCD, HNRNPK, PAX3, ATP2A2, ASXL1, ASCL1, NR5A1, LYST, RFXANK, ATM, MSX1, KMT2D, BMPR1B, NSD1, NFKB1, STAT3, MAP3K1, CACNA1C, SRCAP, SMARCA2, ARID1A, BLM, ALX4, CPOX, PUS1, BDNF, SOX11, HRAS, EGFR, CDK4, NHP2, SMAD3, NR3C1, ESR1, SKI, JAK2, MTOR, PIK3R1

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, REVESZ SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, NICOLAIDES-BARAITSER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ADAMS-OLIVER SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, PAPILLORENAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, WAARDENBURG SYNDROME, TYPE 4A, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, SOTOS SYNDROME 1, DYSAUTONOMIA, FAMILIAL, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PARIETAL FORAMINA 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, HYPOPHOSPHATASIA, INFANTILE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MULTIPLE SYNOSTOSES SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, KABUKI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RUBINSTEIN-TAYBI SYNDROME, PCWH SYNDROME, IMMUNODEFICIENCY 35, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, ULNAR-MAMMARY SYNDROME, INCONTINENTIA PIGMENTI, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, ANDROGEN INSENSITIVITY, HEMOCHROMATOSIS, TYPE 2B, PREMATURE OVARIAN FAILURE 7, EHLERS-DANLOS SYNDROME, TYPE 3, CINCA SYNDROME, NAXOS DISEASE, DYSKERATOSIS CONGENITA, X-LINKED, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, MUCKLE-WELLS SYNDROME, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COFFIN-SIRIS SYNDROME 3, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OHDO SYNDROME, X-LINKED, TIETZ ALBINISM-DEAFNESS SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WAARDENBURG SYNDROME, TYPE 3, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HAY-WELLS SYNDROME, BRACHYDACTYLY, TYPE A1, UV-SENSITIVE SYNDROME 1, WAARDENBURG SYNDROME, TYPE 4C, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, WAARDENBURG SYNDROME, TYPE 2A, OSTEOGENESIS IMPERFECTA, TYPE I, EMBERGER SYNDROME, WEAVER SYNDROME, CRANIOSYNOSTOSIS 3, EVEN-PLUS SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, KLEEFSTRA SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, CORNELIA DE LANGE SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE II, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, BRITTLE CORNEA SYNDROME 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, WIEDEMANN-STEINER SYNDROME, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, GENITOPATELLAR SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, WAARDENBURG SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 5, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PROUD SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, LOEYS-DIETZ SYNDROME 1, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, ROBINOW SYNDROME, OPITZ-KAVEGGIA SYNDROME, PARIETAL FORAMINA 1, CEREBELLOFACIODENTAL SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BRANCHIOOCULOFACIAL SYNDROME, BRACHYDACTYLY, TYPE A1, D, HYPOPHOSPHATASIA, CHILDHOOD, MUIR-TORRE SYNDROME, MYHRE SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MISMATCH REPAIR CANCER SYNDROME, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, ADULT SYNDROME, DIGEORGE SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, CRANIOSYNOSTOSIS 6, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, KLIPPEL-FEIL SYNDROME 2, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, APERT SYNDROME, HOLOPROSENCEPHALY-5, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, KABUKI SYNDROME 1, LEOPARD SYNDROME 1, THROMBOCYTOPENIA 5, AU-KLINE SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TCF12, EZH2, F2, APOB, COL1A1, CNBP, RAD21, IKBKG, PHOX2B, TBX3, MYO5A, PPARG, ZIC1, CDK4, WNT5A, BTK, KMT2A, CDKN2A, NOG, TERT, BCOR, MMP1, NFKBIA, G6PC, WNK1, GFI1B, DLL4, MEOX1, HOXD13, CREBBP, POU1F1, IKBKAP, SPECC1L, TGFBR2, PTCH1, SOX9, GRIP1, SMARCA4, KDM6A, RUNX1, CASP8, LZTR1, CYP7B1, NME1, IGF2, ETV6, NOTCH1, THRA, CIITA, GATA2, TAF6, MECP2, BAP1, IFNG, MSX2, ESR1, SMARCE1, KMT2C, NR1I3, JAK2, JUP, KAT6B, MEN1, TAF1, RBPJ, BDNF, TP63, TYK2, RORC, PAX8, GATA1, TBX1, BANF1, ALPL, DKC1, CTNNB1, SMARCA2, SUFU, SMAD4, CDK5, MITF, ZIC2, SMAD9, GDNF, PAX2, STAT1, FLNA, PCK1, BMP2, TUBB, FOXP3, BRCA1, AKT1, SMARCB1, VDR, FOXP1, PRKCD, MED12, SOX18, IHH, GLI3, POLD1, CDKN1C, HSPA9, PTEN, TFAP2A, HAMP, MAF, ZEB2, DLX5, GDF2, AIRE, AR, SLC2A1, NGF, HDAC8, HNRNPK, PAX3, PEX2, ASCL1, NR5A1, PTRF, PTPN11, ATM, MSX1, KMT2D, BRF1, BMPR1B, NSD1, NFKB1, STAT3, MSH2, CXCR4, FGFR2, ALX4, FOXD3, CPOX, PCNA, ERCC6, RET, IRF6, ARX, SOX11, EDNRB, EGFR, SFTPC, SMAD3, NR3C1, NLRP3, SKI, TINF2, SOX10, PRDM5, MTOR, PIK3R1

PAPILLORENAL SYNDROME, BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, REVESZ SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, TRANSALDOLASE DEFICIENCY, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, 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, HERMANSKY-PUDLAK SYNDROME 1, BROOKE-SPIEGLER SYNDROME, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, ACNE INVERSA, FAMILIAL, 3, IMMUNODEFICIENCY 35, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, SECKEL SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RETICULATE ACROPIGMENTATION OF KITAMURA, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, 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, INCONTINENTIA PIGMENTI, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, ROBINOW SYNDROME, BARAITSER-WINTER SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, COFFIN-LOWRY SYNDROME, COFFIN-SIRIS SYNDROME 4, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, WAARDENBURG SYNDROME, TYPE 2A, MEDNIK SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, NOONAN SYNDROME 4, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OTOPALATODIGITAL SYNDROME, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, COWDEN SYNDROME 7, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, DARIER DISEASE, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, AMYOTROPHY, HEREDITARY NEURALGIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, TIETZ ALBINISM-DEAFNESS SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CHEDIAK-HIGASHI SYNDROME, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, DIAMOND-BLACKFAN ANEMIA 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ACROKERATOSIS VERRUCIFORMIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, MITF, CAV1, APOB, PRKACA, ACTB, FAS, IKBKG, PSEN1, TBX3, CYLD, PPARG, CTNNB1, CDK5, PRKAR1A, CDK4, WNT5A, BTK, STK11, CDKN2A, ITGA3, TERT, NPR2, PIK3CA, WNK1, EFEMP2, GFI1B, TGFBR2, CREBBP, BLM, PRKACG, RBPJ, SF3B4, PDGFRB, SOX9, RASA1, GRIP1, SMARCA4, RUNX1, DSP, IL31RA, PTPRC, LZTR1, NME1, WRN, NOTCH1, PARN, ERCC3, LRP1, MTOR, EDNRA, NOD2, PAX2, GHR, ATP2A2, SPRED1, CBL, JAK2, JUP, TALDO1, TGFBR1, TAF1, AP1S1, TMEM173, KRIT1, PCNA, RPS6KA3, STAT3, SEC23B, ACD, SMC3, SEPT9, GATA1, ITGB3, GJA1, SUFU, SMAD4, DVL3, MECP2, STAT1, CHRM3, TGFB3, USP9X, FOXP3, BRCA1, AKT1, RIPK4, VDR, DTNBP1, WAS, UBE3A, EGFR, MAP2K2, EZH2, PSTPIP1, RPS19, PTEN, BRAF, ACVRL1, ZEB2, KIT, POLA1, LCK, AR, FLNA, MYH11, SMARCB1, PRKCD, SLC12A6, ATR, PTRF, LYST, PTPN11, ATM, NFKB1, TSC1, MAP3K1, AXIN2, SOS1, MSH2, TYK2, BDNF, APC, HRAS, LRP2, NR0B1, OCLN, SMAD3, ADAM10, NR3C1, ESR1, SKI, TINF2, PIK3R1

PAPILLORENAL SYNDROME, BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, REVESZ SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, TRANSALDOLASE DEFICIENCY, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, 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, HERMANSKY-PUDLAK SYNDROME 1, BROOKE-SPIEGLER SYNDROME, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, WIEDEMANN-STEINER SYNDROME, ACNE INVERSA, FAMILIAL, 3, IMMUNODEFICIENCY 35, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, SECKEL SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RETICULATE ACROPIGMENTATION OF KITAMURA, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, 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, INCONTINENTIA PIGMENTI, TIETZ ALBINISM-DEAFNESS SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, EPIDERMAL NEVUS, ROBINOW SYNDROME, BARAITSER-WINTER SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, COFFIN-LOWRY SYNDROME, COFFIN-SIRIS SYNDROME 4, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, WAARDENBURG SYNDROME, TYPE 2A, MEDNIK SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OTOPALATODIGITAL SYNDROME, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, DARIER DISEASE, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, AMYOTROPHY, HEREDITARY NEURALGIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, WISKOTT-ALDRICH SYNDROME, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, DIAMOND-BLACKFAN ANEMIA 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ACROKERATOSIS VERRUCIFORMIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, MITF, CAV1, APOB, PRKACA, ACTB, FAS, IKBKG, PSEN1, TBX3, CYLD, PPARG, CTNNB1, CDK5, PRKAR1A, CDK4, WNT5A, BTK, KMT2A, STK11, CDKN2A, ITGA3, TERT, NPR2, PIK3CA, WNK1, EFEMP2, GFI1B, PDGFRB, CREBBP, MSH2, PRKACG, RBPJ, SF3B4, TGFBR2, SOX9, NF2, GRIP1, KRAS, RUNX1, CBL, IL31RA, EGFR, LZTR1, NME1, WRN, NOTCH1, PARN, ERCC3, LRP1, MTOR, EDNRA, NOD2, TAF6, MECP2, NR0B1, DSP, SPRED1, JUP, TALDO1, MEN1, TAF1, AP1S1, TMEM173, MLH1, PCNA, RPS6KA3, STAT3, SEC23B, ACD, SMC3, SEPT9, GATA1, LCK, TGFBR1, ITGB3, GJA1, SUFU, SMAD4, DVL3, RASA1, GHR, STAT1, CHRM3, TGFB3, SLC2A1, USP9X, FOXP3, BRCA1, NR3C1, AKT1, RIPK4, SMARCA4, VDR, DTNBP1, WAS, UBE3A, PAX2, LRP2, MAP2K2, EZH2, PSTPIP1, RPS19, PTEN, PTPN22, BRAF, ACVRL1, ZEB2, KIT, POLA1, PFKM, AR, FLNA, MYH11, SMARCB1, PRKCD, SLC12A6, ATP2A2, PTRF, LYST, PTPN11, ATM, TNFAIP3, NFKB1, TSC1, MAP3K1, AXIN2, SOS1, BLM, PTPRC, TYK2, BDNF, APC, HRAS, FASLG, OCLN, SMAD3, ADAM10, ATR, ESR1, SKI, TINF2, JAK2, KRIT1, PIK3R1

LOEYS-DIETZ SYNDROME 1, BARAITSER-WINTER SYNDROME 1, CORNELIA DE LANGE SYNDROME 3, 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, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, OCULOECTODERMAL SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SHORT SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, WIEDEMANN-STEINER SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, NAXOS DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, WISKOTT-ALDRICH SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, LOEYS-DIETZ SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, CRANIOLENTICULOSUTURAL DYSPLASIA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 2, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, COFFIN-SIRIS SYNDROME 4, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

LCK, FASLG, SHOC2, SEC23A, CAV1, SMARCA4, PRKCD, ACTB, FAS, FLT4, AKT1, PTPN11, ITGB3, AP3B1, ANKLE2, WAS, CDK5, SMC1A, CTNNB1, SOS1, B2M, MASTL, TERT, JUP, TGFBR1, PSTPIP1, HRAS, EGFR, KRAS, TGFBR2, MYH11, KCNN4, STAT3, SMC3, MTOR, PIK3R1

LOEYS-DIETZ SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, CRANIOLENTICULOSUTURAL DYSPLASIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, BARAITSER-WINTER SYNDROME 1, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, HYPER-IGE RECURRENT INFECTION SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PAPILLON-LEFEVRE 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, BRACHYDACTYLY, TYPE B2, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, OCULOECTODERMAL SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOGENESIS IMPERFECTA, TYPE II, SHORT SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, XERODERMA PIGMENTOSUM, GROUP D, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, LOEYS-DIETZ SYNDROME 3, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, NAXOS DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, WISKOTT-ALDRICH SYNDROME, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PERIODONTITIS 1, JUVENILE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, OCULODENTODIGITAL DYSPLASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, MULTIPLE SYNOSTOSES SYNDROME 1, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, LOEYS-DIETZ SYNDROME 2, NEUROFIBROMATOSIS, TYPE 2, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HERMANSKY-PUDLAK SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?IMMUNODEFICIENCY 22, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, SMITH-KINGSMORE SYNDROME, EPIDERMAL NEVUS, CORNELIA DE LANGE SYNDROME 2, HAIM-MUNK SYNDROME, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, COFFIN-SIRIS SYNDROME 4, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

LCK, FASLG, TSC2, NF2, TGFBR1, CAV1, SMAD3, CTNNB1, PRKCD, SHOC2, COL1A1, SMAD4, PTEN, CDK5, ACTB, FAS, FLT4, SEC23A, PTPN11, SMARCA4, ITGB3, AP3B1, GJA1, WAS, PRKACA, NOG, WNK1, MTOR, AKT1, KRAS, SOS1, B2M, CDKN2A, CTSC, KCNN4, SPRED1, MASTL, JUP, EZH2, PIK3CA, PSTPIP1, HRAS, EGFR, ERCC2, TGFBR2, SMC1A, MYH11, TERT, CREBBP, STAT3, SMC3, ANKLE2, PIK3R1

MULLERIAN APLASIA AND HYPERANDROGENISM, WAARDENBURG SYNDROME, TYPE 2A, ATROPHODERMA VERMICULATUM, REVESZ SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, BRACHYDACTYLY, TYPE A1, D, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, COCKAYNE SYNDROME, TYPE A, GLUTAMINE DEFICIENCY, CONGENITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, XERODERMA PIGMENTOSUM, GROUP D, SHORT SYNDROME, DIGEORGE SYNDROME, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, MYOTONIC DYSTROPHY 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, WAARDENBURG SYNDROME, TYPE 4A, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BLAU SYNDROME, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, LIMB-MAMMARY SYNDROME, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, WAARDENBURG SYNDROME, TYPE 3, PSORIASIS 2, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PARIETAL FORAMINA 2, HERMANSKY-PUDLAK SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FAMILIAL MEDITERRANEAN FEVER, AR, MULTIPLE SYNOSTOSES SYNDROME 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?REYNOLDS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, ESTROGEN RESISTANCE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, LYMPHEDEMA, HEREDITARY, IA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, {PSORIASIS SUSCEPTIBILITY 1}, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RETICULATE ACROPIGMENTATION OF KITAMURA, MISMATCH REPAIR CANCER SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OLIGODONTIA-COLORECTAL CANCER SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PHELAN-MCDERMID SYNDROME, NAXOS DISEASE, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OHDO SYNDROME, X-LINKED, INCONTINENTIA PIGMENTI, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, COFFIN-LOWRY SYNDROME, SCHOPF-SCHULZ-PASSARGE SYNDROME, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, WEAVER SYNDROME, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NOONAN SYNDROME 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, OCULOECTODERMAL SYNDROME, ATAXIA-TELANGIECTASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, 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, NOONAN SYNDROME 10, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), HERMANSKY-PUDLAK SYNDROME 7, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NICOLAIDES-BARAITSER SYNDROME, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, AMYOTROPHY, HEREDITARY NEURALGIC, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTONASAL DYSPLASIA 2, OPITZ GBBB SYNDROME, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, CLOVE SYNDROME, SOMATIC, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, ROBINOW SYNDROME, PAPILLORENAL SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, DUBIN-JOHNSON SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, BRACHYDACTYLY, TYPE B2, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, HAJDU-CHENEY SYNDROME, EMBERGER SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, WARBURG MICRO SYNDROME 1, LYMPHEDEMA, HEREDITARY, ID, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, BARAITSER-WINTER SYNDROME 1, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ADULT SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PITYRIASIS RUBRA PILARIS, UV-SENSITIVE SYNDROME 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, TIETZ ALBINISM-DEAFNESS SYNDROME, KLIPPEL-FEIL SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PALLISTER-HALL SYNDROME, ACNE INVERSA, FAMILIAL, 2, GRISCELLI SYNDROME, TYPE 2, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, DYSAUTONOMIA, FAMILIAL, XERODERMA PIGMENTOSUM, GROUP B, ?MICROPHTHALMIA, SYNDROMIC 1, OGDEN SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CHEDIAK-HIGASHI SYNDROME, LEOPARD SYNDROME 1, THROMBOCYTOPENIA 5, LOEYS-DIETZ SYNDROME 1, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, SECKEL SYNDROME 1, SMITH-KINGSMORE SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

PDE4D, PEX14, MITF, CAV1, EDNRA, WNT5A, COL1A1, ABCC2, NAA10, PRKACA, ACTB, LBR, FERMT3, IKBKG, PSEN1, SMARCA4, F2, RAB27A, MYO5A, CDK5, PRKAR1A, CDK4, CTNNB1, SOX10, SHANK3, B2M, STK11, PLG, CDKN2A, NOG, ITGA3, TERT, CLASP1, SEC23A, PIK3CA, MMP2, NOTCH1, EFEMP2, ERCC2, MEFV, PDGFRB, MEOX1, SMAD4, CREBBP, IKBKAP, RBPJ, SF3B4, PTEN, SMARCB1, SOX9, RASA1, GRIP1, SHMT1, ACVR1, KRAS, RUNX1, MAP2K2, EGFR, LZTR1, PTPN22, AR, WRN, FLT4, NOTCH2, THRA, ERCC3, LRP1, GDNF, CIITA, SKIV2L, CRIPT, CHRM3, MID1, TAF6, PAX2, PIK3CD, NR0B1, CBL, SMARCE1, DLX5, CARD9, GNAQ, JAK2, STAT1, JUP, GNAS, KAT6B, NCF2, VEGFC, TNFRSF1A, TSHR, NLRP1, PCNA, RPS6KA3, TP63, AXIN2, TBX1, ACD, SMC3, SEPT9, ARHGAP31, GATA1, NCF1, BANF1, TGFBR1, ITGB3, GJA1, SMARCA2, ZAP70, PSENEN, DVL3, VWF, TAF1, MECP2, LMX1B, RAB3GAP1, CARD14, PQBP1, BMP2, TUBB, EDNRB, BRCA1, MTOR, AKT1, FZD6, ASCL1, DTNBP1, WAS, MED12, GFI1B, UBE3A, FASLG, LRP2, SH3PXD2B, CASP8, EZH2, GLI3, ERCC8, TINF2, PSTPIP1, EFNB1, ATIC, PEX5, CDKL5, CHMP1A, NOD2, BTK, ITGA6, KIT, STAT3, EHMT1, OCLN, POLA1, LCK, FLNA, MYH11, NGF, PRKCD, HNRNPK, PAX3, ATR, CASP10, CLDN1, LYST, MED25, ATM, MSX1, AIRE, BMPR1B, DMPK, NEB, MAP3K1, CACNA1C, INSR, PTPN11, WNT10A, SOS1, MSH2, NIPBL, ALX4, CYBA, GLUL, PDGFRA, PCSK9, BDNF, RET, APC, HRAS, ETV6, HLA-C, WNT4, ADAM17, EPOR, SMAD3, ADAM10, NR3C1, ESR1, TGFBR2, SKI, FAS, GATA2, PIK3R1

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, HYPER-IGE RECURRENT INFECTION SYNDROME, KLEEFSTRA SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, BENT BONE DYSPLASIA SYNDROME, CRIGLER-NAJJAR SYNDROME, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, IMMUNODEFICIENCY 42, ANDROGEN INSENSITIVITY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, PREMATURE OVARIAN FAILURE 7, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MENTAL RETARDATION, X-LINKED 102, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, WATSON SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, LOEYS-DIETZ SYNDROME 3, NEUROFIBROMATOSIS-NOONAN SYNDROME, ANGELMAN SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, {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, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TANGIER DISEASE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PALLISTER-HALL SYNDROME, HAMAMY SYNDROME, APERT SYNDROME, TUBEROUS SCLEROSIS 2, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, RUBINSTEIN-TAYBI SYNDROME, NEUROFIBROMATOSIS, TYPE 1, TRIGONOCEPHALY 1, NEUROFIBROMATOSIS, FAMILIAL SPINAL, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

PTCH1, UGT1A1, ACTB, CAV1, FGFR1, NGF, APOA1, NR3C1, AR, NR5A1, MMP2, APOA2, RORC, PPARG, ESR1, LEP, APOB, ABCA1, IRX5, VDR, FGFR2, NR1I3, NR0B1, UBE3A, TERT, LRP2, BDNF, SMARCA4, GLI3, EGFR, IFNG, NF1, SMAD3, CREBBP, ALB, HSPG2, STAT3, KL, LDLR, AKR1D1, DDX3X

LYSYL HYDROXYLASE 3 DEFICIENCY, MULTIPLE SULFATASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VI, BRUCK SYNDROME 2

PLOD1, SUMF1, PLOD2, PLOD3

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ATROPHODERMA VERMICULATUM, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, BEARE-STEVENSON CUTIS GYRATA SYNDROME, BENT BONE DYSPLASIA SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, ?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, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, KERATOSIS PALMOPLANTARIS STRIATA I, AD, EPIDERMOLYSIS BULLOSA PRURIGINOSA, BLAU SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, MULTIPLE SYNOSTOSES SYNDROME 1, STORMORKEN SYNDROME, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ACNE INVERSA, FAMILIAL, 3, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, TOENAIL DYSTROPHY, ISOLATED, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, 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, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, EHLERS-DANLOS SYNDROME, TYPE 3, NAXOS DISEASE, AMELOGENESIS IMPERFECTA, TYPE IA, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ADAMS-OLIVER SYNDROME 3, EPIDERMOLYSIS BULLOSA, PRETIBIAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, EMBERGER SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, WEAVER SYNDROME, KNOBLOCH SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA IIA, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, NEUROFIBROMATOSIS, TYPE 2, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, IMMUNODEFICIENCY 10, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ALAGILLE SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ?IMMUNODEFICIENCY 22, EHLERS-DANLOS SYNDROME, TYPE IV, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN 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, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, VON WILLIBRAND DISEASE, TYPE 3, HAJDU-CHENEY SYNDROME, GELEOPHYSIC DYSPLASIA 2, TRANSIENT BULLOUS OF THE NEWBORN, GLANZMANN THROMBASTHENIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, OSTEOGENESIS IMPERFECTA, TYPE XVII, ACROMICRIC DYSPLASIA, CUTIS LAXA, AD, FUHRMANN SYNDROME, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, MARFAN LIPODYSTROPHY SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, APERT SYNDROME, STIFF SKIN SYNDROME, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGFR2, LCK, WNT7A, STIM1, ADAMTS13, CAV1, CBL, FBLN5, NFKB2, PRKCD, DSP, ELN, CTNNB1, PTPRC, NR3C1, VWF, NOTCH2, NF2, FLT4, ITGB4, FERMT3, COL3A1, CXCR4, MMP2, F2, KRIT1, LEP, LAMB3, TNXB, NOD2, COL5A1, COL1A1, NOG, INSR, HLA-B, PTPN11, ITGA2, PSEN1, ITGB3, DSG1, NGF, COL17A1, B2M, ASCL1, PLG, FGF23, COL18A1, IFNG, ITGA3, LRP2, JUP, PCNA, FBN1, SPARC, MEN1, GATA2, RET, COL1A2, RBPJ, TNFRSF1A, LTBP4, EGFR, EZH2, GFI1B, JAG1, ADAM17, DLL4, SMAD3, COL6A1, ALB, LRP1, HSPG2, STAT3, DST, COL7A1, ITGA6, NOTCH1, FLNA, CD81, ADAM10, PIK3R1

ATROPHODERMA VERMICULATUM, RITSCHER-SCHINZEL SYNDROME 2, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, BEARE-STEVENSON CUTIS GYRATA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, LYMPHEDEMA, HEREDITARY, IA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, 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}, DYSAUTONOMIA, FAMILIAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TRIGONOCEPHALY 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PEELING SKIN SYNDROME 4, RUBINSTEIN-TAYBI SYNDROME, ?CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, PHELAN-MCDERMID SYNDROME, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, VOHWINKEL SYNDROME WITH ICHTHYOSIS, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MULTIPLE ENDOCRINE NEOPLASIA 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WAARDENBURG SYNDROME, TYPE 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HAY-WELLS SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, ARTHROGRYPOSIS, DISTAL, TYPE 8, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, NEUROFIBROMATOSIS, TYPE 2, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, EPIDERMAL NEVUS, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, 46XY SEX REVERSAL 6, PREMATURE AGING SYNDROME, PENTTINEN TYPE, GLANZMANN THROMBASTHENIA, ADULT SYNDROME, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

LCK, NCF1, NF2, CCDC22, ITGB3, DSP, MYH11, KRAS, SMARCA2, MAP2K2, MYH3, CDK5, LOR, FLT4, NTRK1, FRMD4A, GHR, COL17A1, ITGA2B, F2, LRP1, COL11A1, CSTA, TP63, MAP3K1, COL1A1, TNFRSF1A, BRCA1, AKT1, MMP2, SOX10, SHANK3, ESR1, FGFR2, FGFR1, PTPRC, LRPPRC, COL18A1, FASLG, NRAS, LRP2, SH3PXD2B, CBL, MEN1, PIK3CA, STAP1, HRAS, COL1A2, EGFR, PDGFRB, SMAD3, PAX3, CREBBP, STAT3, IKBKAP, PTPN11, KIT, CUL7, PTEN, PIK3R1, SOS1

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, REVESZ SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, NICOLAIDES-BARAITSER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ADAMS-OLIVER SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, MISMATCH REPAIR CANCER SYNDROME, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, PAPILLORENAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, WAARDENBURG SYNDROME, TYPE 4A, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, SOTOS SYNDROME 1, DYSAUTONOMIA, FAMILIAL, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PARIETAL FORAMINA 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MULTIPLE SYNOSTOSES SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, KABUKI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MUCKLE-WELLS SYNDROME, RUBINSTEIN-TAYBI SYNDROME, PCWH SYNDROME, IMMUNODEFICIENCY 35, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, INCONTINENTIA PIGMENTI, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, HEMOCHROMATOSIS, TYPE 2B, PREMATURE OVARIAN FAILURE 7, EHLERS-DANLOS SYNDROME, TYPE 3, CINCA SYNDROME, NAXOS DISEASE, DYSKERATOSIS CONGENITA, X-LINKED, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, COFFIN-SIRIS SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OHDO SYNDROME, X-LINKED, TIETZ ALBINISM-DEAFNESS SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WAARDENBURG SYNDROME, TYPE 3, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HAY-WELLS SYNDROME, BRACHYDACTYLY, TYPE A1, UV-SENSITIVE SYNDROME 1, WAARDENBURG SYNDROME, TYPE 4C, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, WAARDENBURG SYNDROME, TYPE 2A, OSTEOGENESIS IMPERFECTA, TYPE I, EMBERGER SYNDROME, WEAVER SYNDROME, CRANIOSYNOSTOSIS 3, EVEN-PLUS SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, KLEEFSTRA SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, CORNELIA DE LANGE SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE II, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, BRITTLE CORNEA SYNDROME 2, WIEDEMANN-STEINER SYNDROME, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, GENITOPATELLAR SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, WAARDENBURG SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 5, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PROUD SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, OPITZ-KAVEGGIA SYNDROME, PARIETAL FORAMINA 1, CEREBELLOFACIODENTAL SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BRANCHIOOCULOFACIAL SYNDROME, BRACHYDACTYLY, TYPE A1, D, ANDROGEN INSENSITIVITY, MUIR-TORRE SYNDROME, MYHRE SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, ADULT SYNDROME, DIGEORGE SYNDROME, CRANIOSYNOSTOSIS 6, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, KLIPPEL-FEIL SYNDROME 2, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, APERT SYNDROME, HOLOPROSENCEPHALY-5, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, THROMBOCYTOPENIA 5, AU-KLINE SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TCF12, EZH2, F2, APOB, COL1A1, CNBP, RAD21, IKBKG, PHOX2B, TBX3, MYO5A, PPARG, ZIC1, CDK4, WNT5A, BTK, KMT2A, CDKN2A, NOG, TERT, BCOR, MMP1, NFKBIA, G6PC, WNK1, TGFBR2, DLL4, MEOX1, CREBBP, POU1F1, IKBKAP, SPECC1L, PTEN, PTCH1, SOX9, GRIP1, SMARCA4, KDM6A, RUNX1, CASP8, LZTR1, CYP7B1, NME1, IGF2, ETV6, NOTCH1, THRA, CIITA, GATA2, TAF6, MECP2, BAP1, IFNG, MSX2, ESR1, SMARCE1, KMT2C, NR1I3, JAK2, JUP, KAT6B, MEN1, TAF1, RBPJ, BDNF, TP63, TYK2, RORC, PAX8, GATA1, TBX1, BANF1, DKC1, CTNNB1, SMARCA2, SUFU, SMAD4, CDK5, MITF, ZIC2, SMAD9, GDNF, PAX2, STAT1, FLNA, PCK1, TUBB, BMP2, FOXP3, BRCA1, AKT1, SMARCB1, VDR, FOXP1, PRKCD, MED12, SOX18, IHH, GLI3, POLD1, CDKN1C, HSPA9, HOXD13, TFAP2A, HAMP, MAF, ZEB2, DLX5, GDF2, AIRE, AR, SLC2A1, NGF, HDAC8, HNRNPK, PAX3, PEX2, ASCL1, NR5A1, PTRF, ATM, MSX1, KMT2D, BRF1, BMPR1B, NSD1, NFKB1, STAT3, MSH2, CXCR4, FGFR2, ALX4, FOXD3, CPOX, PCNA, ERCC6, RET, IRF6, ARX, SOX11, EDNRB, EGFR, SFTPC, SMAD3, NR3C1, NLRP3, SKI, TINF2, SOX10, PRDM5, MTOR, PIK3R1

REVESZ SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, GLUTAMINE DEFICIENCY, CONGENITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 38, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OVARIAN DYSGENESIS 4, MELNICK-NEEDLES SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, COCKAYNE SYNDROME, TYPE B, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, ?AL-GAZALI-BAKALINOVA SYNDROME, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 43, WARSAW BREAKAGE SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, NEUROFIBROMATOSIS, FAMILIAL SPINAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ADAMS-OLIVER SYNDROME 5, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, MENKES DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, C2 DEFICIENCY, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, CEREBROOCULOFACIOSKELETAL SYNDROME 3, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, SECKEL SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ARTHROGRYPOSIS, DISTAL, TYPE 8, RUBINSTEIN-TAYBI SYNDROME, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, MULIBREY NANISM, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, LOEYS-DIETZ SYNDROME 3, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DYSKERATOSIS CONGENITA, X-LINKED, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, EHLERS-DANLOS SYNDROME, TYPE 3, FILS SYNDROME, OCCIPITAL HORN SYNDROME, ADAMS-OLIVER SYNDROME 3, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, FLOATING-HARBOR SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 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, CORNELIA DE LANGE SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2A, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, ?IMMUNODEFICIENCY 13, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, PEROXISOME BIOGENESIS DISORDER 4B, NEUROFIBROMATOSIS, TYPE 1, HEIMLER SYNDROME 2, PSEUDOHYPOPARATHYROIDISM IA, HEIMLER SYNDROME 1, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, LOEYS-DIETZ SYNDROME 1, {PSORIASIS SUSCEPTIBILITY 1}, AL-RAQAD SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, LOWE SYNDROME, NOONAN SYNDROME 4, HAILEY-HAILEY DISEASE, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, CORNELIA DE LANGE SYNDROME 4, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, XERODERMA PIGMENTOSUM, GROUP C, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, NICOLAIDES-BARAITSER SYNDROME, DARIER DISEASE, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, HEMOCHROMATOSIS TYPE 1, AMYOTROPHY, HEREDITARY NEURALGIC, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ATAXIA-TELANGIECTASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, ADERMATOGLYPHIA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), COPROPORPHYRIA, HARDEROPORPHYRIA, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, GLYCOGEN STORAGE DISEASE XI, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, KOSAKI OVERGROWTH SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, DUBIN-JOHNSON SYNDROME, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ANDROGEN INSENSITIVITY, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, SMITH-KINGSMORE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BRACHYDACTYLY, TYPE A1, D, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GALLBLADDER DISEASE 1, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ESTROGEN RESISTANCE, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, HUTCHINSON-GILFORD PROGERIA, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MEIER-GORLIN SYNDROME 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, UV-SENSITIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, PALLISTER-HALL SYNDROME, MYHRE SYNDROME, GRISCELLI SYNDROME, TYPE 2, XERODERMA PIGMENTOSUM, GROUP B, PARIETAL FORAMINA 1, WARBURG MICRO SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 12, XERODERMA PIGMENTOSUM, GROUP D, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, COLE DISEASE, TANGIER DISEASE, ACROKERATOSIS VERRUCIFORMIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

SMARCAD1, BRCA2, CAV1, TSC2, CNBP, RAD21, ACTB, PEX14, GNAS, IKBKG, PEX6, SMARCA4, TAP1, MSH6, ATP6V1B2, ENPP1, MYO5A, CTNNB1, CDK5, PRKAR1A, DNAH14, CDK4, GJA1, B2M, OCRL, KIF7, KIF1B, NF1, RAB7A, FANCM, PIK3CA, SOS1, AR, GFI1B, ERCC2, PDGFRB, SMAD4, CREBBP, ABCB6, XPC, ABCC2, RBPJ, ATL3, KIF1A, PTEN, PCNT, SMARCA2, RASA1, IFIH1, GRIP1, ACVR1, KRAS, APOA1, ABCA12, ABCD3, NME1, WRN, PIGT, NOTCH1, CPOX, LMNB1, CIITA, SKIV2L, MLH1, TAF6, ABCA1, JAK2, MYO18B, CBL, DDX11, C2, IFNG, TPM2, STAT1, ATP2C1, VPS33B, TGFBR1, TAF1, ERCC5, ALPL, RAB27A, FANCA, TNNT2, SMC1A, RAB18, ATP8B1, STAT3, BRAF, SMC3, SEPT9, SOS2, ATL1, DDX3X, DKC1, UBE2A, PEX1, ADAR, LDHA, CLASP1, CBS, KLC2, BMP2, TUBB, NR3C1, AKT1, GNAQ, TAPBP, ASCL1, DDX58, TINF2, SMARCAL1, EGFR, ABCB4, ABCC6, FECH, UNC119, RECQL4, MCM4, PSTPIP1, PEX5, ABCB11, CHRM3, POLA1, PFKM, DDX41, ISG15, FLNA, MSH2, SMAD3, NGF, MCM9, PRKCD, ATR, JAGN1, MYH3, KIF22, SRCAP, MSX2, ATM, LMNA, ATP7A, AP3B1, BMPR1B, SPTLC1, NFKB1, WAS, ORC1, INSR, C10orf2, POLE, BLM, TAP2, ABCC9, GLUL, PMS2, RTEL1, PCNA, ERCC6, DCPS, ERCC3, HRAS, HLA-C, ABCA5, GNRH1, NHP2, MYH11, ATP2A2, ESR1, TRIM37, KRIT1, MTOR, PIK3R1

BARAITSER-WINTER SYNDROME 1, ATAXIA-TELANGIECTASIA, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NESTOR-GUILLERMO PROGERIA SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 3, VON WILLEBRAND DISEASE, TYPE 1, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, COCKAYNE SYNDROME, TYPE B, COFFIN-SIRIS SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CRANIOFRONTONASAL DYSPLASIA, NIJMEGEN BREAKAGE SYNDROME, MULIBREY NANISM, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, COFFIN-SIRIS SYNDROME 1, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, XERODERMA PIGMENTOSUM, GROUP B, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, EPIDERMAL NEVUS, CORNELIA DE LANGE SYNDROME 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, TUBEROUS SCLEROSIS-1, XERODERMA PIGMENTOSUM, GROUP D, UV-SENSITIVE SYNDROME 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC

TSC2, PEX14, ACTB, SMARCA4, CBL, AR, BANF1, VWF, MECP2, ATM, THRA, ERCC3, ERCC5, ERCC4, CDK5, TAF6, AKT1, VDR, NIPBL, SMARCE1, ERCC6, BDNF, MEN1, NBN, RBPJ, HRAS, HSPA9, ERCC2, EFNB1, PEX5, CREBBP, TSC1, TRIM37, SMC3

LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, ETHYLMALONIC ENCEPHALOPATHY, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XI, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, KLEEFSTRA SYNDROME, ADAMS-OLIVER SYNDROME 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PHYTANIC ACID STORAGE DISEASE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SHORT SYNDROME, BRUCK SYNDROME 2, RESTRICTIVE DERMOPATHY, LETHAL, OSTEOGENESIS IMPERFECTA, TYPE II, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, GLUCOCORTICOID RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, BARAITSER-WINTER SYNDROME 1, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, LOEYS-DIETZ SYNDROME 3, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, ERYTHROCYTOSIS, FAMILIAL, 2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, DOWLING-DEGOS DISEASE 1, COFFIN-SIRIS SYNDROME 2, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, ROTHMUND-THOMSON SYNDROME, HUTCHINSON-GILFORD PROGERIA, ESTROGEN RESISTANCE, MEIER-GORLIN SYNDROME 1, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, KABUKI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MANDIBULOACRAL DYSPLASIA, KABUKI SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, RUBINSTEIN-TAYBI SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, EHLERS-DANLOS SYNDROME, TYPE VI, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, COFFIN-SIRIS SYNDROME 4, PROTEUS SYNDROME, SOMATIC