SKIN NAILS AND HAIR

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, HYPER-IGE RECURRENT INFECTION SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, {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, BROOKE-SPIEGLER SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ACNE INVERSA, FAMILIAL, 3, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DUBIN-JOHNSON SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, C2 DEFICIENCY, CINCA SYNDROME, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, MUCKLE-WELLS SYNDROME, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ADAMS-OLIVER SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, 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, OHDO SYNDROME, X-LINKED, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, 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, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, WEAVER SYNDROME, FUMARASE DEFICIENCY, TIMOTHY SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OTOPALATODIGITAL SYNDROME, TYPE I, COFFIN-SIRIS SYNDROME 4, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, LEIOMYOMATOSIS AND RENAL CELL CANCER, 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, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, WISKOTT-ALDRICH SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, DARIER DISEASE, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, WAARDENBURG SYNDROME, TYPE 3, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, NEUROFIBROMATOSIS, TYPE 1, ANDROGEN INSENSITIVITY, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CRANIOSYNOSTOSIS 6, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, PALLISTER-HALL SYNDROME, FACTOR XIIIA DEFICIENCY, ACROKERATOSIS VERRUCIFORMIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, IMMUNODEFICIENCY, COMMON VARIABLE, 12, DIAMOND-BLACKFAN ANEMIA 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

PDE4D, PEX14, CAV1, APOB, MMP1, PRKACA, ACTB, IKBKG, PSEN1, KRIT1, CYLD, PPARG, ZIC1, PRKAR1A, CDK4, WNT5A, NLRP12, CDKN2A, FH, PIK3CA, BMPER, CREBBP, ABCC2, RBPJ, PTEN, SOX9, TGFB2, SHMT1, GNAQ, AXIN2, CASP8, AR, NOTCH1, THRA, LRP1, MTOR, EDNRA, CHRM3, EDA, LEP, ITGA2, IFNG, GJA1, C2, NFKBIA, JUP, TGFBR1, TNFRSF1A, TMEM173, PCNA, WAS, FASLG, ITGB3, CTNNB1, SUFU, SMAD4, CDK5, DVL3, STAT1, TGFB3, APOA2, NFKB2, VHL, BMP2, TUBB, BRCA1, NR3C1, AKT1, SMARCA4, VDR, DDX58, MED12, LRP2, EZH2, GLI3, EDAR, RPS19, NF1, F13A1, NOD2, BTK, ITGA6, STAT3, FLNA, NGF, PAX3, ALB, MMP2, PTPN11, AP3B1, NFKB1, NLRP3, MAP3K1, CACNA1C, RFXANK, PCNT, RBCK1, EDARADD, CPOX, BDNF, HRAS, EGFR, SMAD3, ATP2A2, ESR1, JAK2, GATA2, PIK3R1

BARAITSER-WINTER SYNDROME 1, ATROPHODERMA VERMICULATUM, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, OSTEOGENESIS IMPERFECTA, TYPE I, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, PEUTZ-JEGHERS SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, FACTOR XIIIB DEFICIENCY, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL 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}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HERMANSKY-PUDLAK SYNDROME 1, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, LEOPARD SYNDROME 3, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, COMPLEMENT FACTOR I DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, STORMORKEN SYNDROME, LOEYS-DIETZ SYNDROME 2, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, IMMUNODEFICIENCY 43, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ACNE INVERSA, FAMILIAL, 3, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ADAMS-OLIVER SYNDROME 5, ADULT SYNDROME, ADAMS-OLIVER SYNDROME 2, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MOYAMOYA 6 WITH ACHALASIA, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, CUTIS LAXA, AD, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RUBINSTEIN-TAYBI SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, CYANOSIS, TRANSIENT NEONATAL, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ANGELMAN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BRACHYDACTYLY, TYPE A1, PSEUDOHYPOPARATHYROIDISM IA, COFFIN-LOWRY SYNDROME, DONNAI-BARROW SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, EMBERGER SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, 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, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 10, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEMOPHILIA A, INCONTINENTIA PIGMENTI, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, DARIER DISEASE, NOONAN SYNDROME 9, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPERTHYROIDISM, NONAUTOIMMUNE, DUBIN-JOHNSON SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, 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, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, ANGIOEDEMA, HEREDITARY, TYPES I AND II, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PHYTANIC ACID STORAGE DISEASE, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, PREMATURE AGING SYNDROME, PENTTINEN TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, LYMPHEDEMA, HEREDITARY, ID, HAY-WELLS SYNDROME, LEPRECHAUNISM, ANDROGEN INSENSITIVITY, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, FACTOR XIIIA DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XVII, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, NOONAN SYNDROME 7, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PALLISTER-HALL SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, GRISCELLI SYNDROME, TYPE 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, NEUROCUTANEOUS MELANOSIS, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, CHEDIAK-HIGASHI SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LOEYS-DIETZ SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 9, ACROKERATOSIS VERRUCIFORMIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

PDE4D, BRCA2, EZH2, CAV1, FGFR1, APOB, CDK5, COL1A1, ABCC2, F8, ACTB, ITGB4, FAS, GNAS, CIITA, TBXA2R, ALDOA, F2, RAB27A, MYO5A, PPARG, PDE11A, PRKAR1A, PHYH, ALB, ITGA2B, PROS1, B2M, STK11, ITGA2, CDKN2A, CBL, ITGA3, PRF1, RAB7A, MMP1, PIK3CA, MMP2, EFEMP2, BLOC1S6, GFI1B, TGFBR2, PDGFRB, CREBBP, PRKACG, CTNNB1, SERPING1, SOX9, RASA1, GP1BA, TGFB2, ACVR1, FBLN5, APOA1, PROC, ELN, EGFR, DLX5, ISG15, SMARCE1, IGF2, FLT4, NOTCH1, GP1BB, LRP1, COL6A1, IKBKG, GATA2, EDNRA, CHRM3, LEP, COL1A2, PIK3CD, ABCA1, JAK2, DOCK6, ORAI1, GUCY1A3, PSEN1, IFNG, STAT1, SPARC, PAPSS2, GP6, VEGFC, TSHR, SLC7A7, GP9, PCNA, RPS6KA3, TP63, PTPRC, SMC3, RORC, SOS2, GATA1, FCGR2A, STIM1, TGFBR1, LYST, GJA1, IL2RA, NRAS, ZAP70, SMAD4, COL4A1, VWF, MECP2, KLC2, TGFB3, FLNA, KIF22, VHL, HBG2, BMP2, FOXP3, HRAS, BRCA1, AKT1, KRAS, ITPR2, DDX58, COL18A1, WAS, LDLR, UBE3A, LRP2, IHH, GLI3, HTRA1, PSTPIP1, EFNB1, PTEN, F13A1, ACVRL1, ITGA6, KIT, P2RX1, LCK, SERPINC1, SH2B3, AR, GNAQ, SMAD3, NGF, PRKCD, HNRNPK, ATP2A2, DOCK8, NTRK1, WRN, PTPN11, CXCR4, DTNBP1, AP3B1, CLDN1, F13B, NFKB1, STAT3, P2RY12, CFI, INSR, PLG, SOS1, FGFR2, PLCG2, BRAF, BDNF, CLASP1, RET, IRF6, APC, HFE, EDNRB, HLA-C, CDK4, PRKACA, GNRH1, MYH11, NR3C1, HSPG2, ESR1, ITGB3, ATIC, HPS1, MTOR, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ADAMS-OLIVER SYNDROME 5, TOENAIL DYSTROPHY, ISOLATED, OSTEOGENESIS IMPERFECTA, TYPE I, PAPILLORENAL SYNDROME, PROLIDASE DEFICIENCY, 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, KNOBLOCH SYNDROME 1, ADAMS-OLIVER SYNDROME 3, VON WILLEBRAND DISEASE, TYPE 1, EHLERS-DANLOS SYNDROME, TYPE 3, RETICULATE ACROPIGMENTATION OF KITAMURA, VON WILLIBRAND DISEASE, TYPE 3, SHORT SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, WHIM SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, ?GLYCOPROTEIN IA DEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ANDROGEN INSENSITIVITY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE IV, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA PRURIGINOSA, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ERYTHROCYTOSIS, FAMILIAL, 2, FUHRMANN SYNDROME, CUTIS LAXA, AD, EHLERS-DANLOS SYNDROME, TYPE VIIC, 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, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, PYCNODYSOSTOSIS, WAARDENBURG SYNDROME, TYPE 4C, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PCWH SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, FIBROCHONDROGENESIS 1, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

SOX9, COL18A1, CAV1, NGF, WNT7A, ELN, COL4A1, CTSK, COL6A2, VWF, MMP2, PEPD, CXCR4, F2, LEP, COL11A1, VHL, BMP2, COL5A1, PAX2, COL3A1, ITGA2, AKT1, IFNG, SOX10, COL17A1, COL6A3, MMP1, COL5A2, JAK2, AR, COL1A1, ADAM17, COL1A2, NOTCH1, ADAMTS2, TNXB, SMAD3, COL6A1, STAT3, COL7A1, RBPJ, ADAM10, PIK3R1

WAARDENBURG SYNDROME, TYPE 2A, BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, REVESZ SYNDROME, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, BRACHYDACTYLY, TYPE A1, D, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C2 DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, WAARDENBURG SYNDROME, TYPE 4B, TYLOSIS WITH ESOPHAGEAL CANCER, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, LYMPHEDEMA, HEREDITARY, IA, PAPILLORENAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, GLANZMANN THROMBASTHENIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, GRISCELLI SYNDROME, TYPE 1, HUTCHINSON-GILFORD PROGERIA, EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE, DYSAUTONOMIA, FAMILIAL, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HERMANSKY-PUDLAK SYNDROME 1, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PYCNODYSOSTOSIS, MULTIPLE ENDOCRINE NEOPLASIA 1, AMYOTROPHY, HEREDITARY NEURALGIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, EPIDERMOLYTIC HYPERKERATOSIS, IMMUNODEFICIENCY 43, DIAPHANOSPONDYLODYSOSTOSIS, ACNE INVERSA, FAMILIAL, 3, NEUROFIBROMATOSIS, FAMILIAL SPINAL, IMMUNODEFICIENCY 35, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DUBIN-JOHNSON SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ADAMS-OLIVER SYNDROME 3, CUTIS LAXA, AD, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CINCA SYNDROME, PHELAN-MCDERMID SYNDROME, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, GLUTAMINE DEFICIENCY, CONGENITAL, LOEYS-DIETZ SYNDROME 3, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, ANGELMAN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, TIETZ ALBINISM-DEAFNESS SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, TUBEROUS SCLEROSIS 2, HARTNUP DISORDER, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, DIGEORGE SYNDROME, HAY-WELLS SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, EMBERGER SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, TIMOTHY SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, NOONAN SYNDROME 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, OCULOECTODERMAL SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, ATAXIA-TELANGIECTASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, VAN DEN ENDE-GUPTA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, PSORIASIS 14, PUSTULAR, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, ALAGILLE SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, ?BLEEDING DISORDER, PLATELET-TYPE, 19, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, DARIER DISEASE, HEMOCHROMATOSIS TYPE 1, FACTOR XIIIA DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, OPITZ GBBB SYNDROME, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, NEUROFIBROMATOSIS, TYPE 1, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, GLYCOGEN STORAGE DISEASE XI, PSEUDOHYPOPARATHYROIDISM IA, EHLERS-DANLOS SYNDROME, TYPE 3, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, IMMUNODEFICIENCY 42, ANDROGEN INSENSITIVITY, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, MUCKLE-WELLS SYNDROME, DOWLING-DEGOS DISEASE 1, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, LYMPHEDEMA, HEREDITARY, ID, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, PRADER-WILLI SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ULNAR-MAMMARY 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}, ADULT SYNDROME, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, BRACHYDACTYLY, TYPE B1, TUMOR PREDISPOSITION SYNDROME, GRISCELLI SYNDROME, TYPE 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LOEYS-DIETZ SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LOEYS-DIETZ SYNDROME 4, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, 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, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ACROKERATOSIS VERRUCIFORMIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, MITF, CAV1, APOB, PDE4D, COL1A1, P2RY12, FERMT3, IKBKG, PSEN1, SMARCA4, APOA1, F2, RAB27A, MYO5A, PPARG, NOD2, CDK5, PRKAR1A, ALB, ITGA2B, WNT5A, BTK, SHANK3, B2M, KISS1R, STK11, SCARF2, RAB7A, NPR2, NEU1, NFKBIA, BMPER, PIK3CA, MMP2, WNK1, PRF1, BLOC1S6, JAG1, GFI1B, TGFBR2, APOA2, PRKACG, RBPJ, SF3B4, NF1, PTCH1, SOX9, RASA1, KRT5, GRIP1, ACVR1, KRAS, RUNX1, ELN, BRAF, EGFR, LZTR1, CREBBP, AR, GNAS, PKLR, THRA, LRP1, FSHB, GDNF, CIITA, GATA2, FGFR1, SNAP29, MID1, TAF6, LMNA, CPOX, KRT1, ABCA1, JAK2, MSX2, CBL, SMARCE1, IKBKAP, C2, IFNG, EDN3, LDHA, JUP, MEN1, TAF1, SLC6A19, ROR2, TMEM173, TNFRSF4, TBX3, TSHR, NLRP1, FGF23, PCNA, RPS6KA3, TP63, TYK2, ACD, SMC3, SEPT9, PAX8, LCK, NCF1, TGFBR1, ITGB3, GJA1, KCNN4, SMARCA2, TGFB2, CTNNB1, ZAP70, SMAD4, CTSK, F13A1, FLT4, VEGFC, PAX2, NDUFAF2, STAT1, TGFB3, SLC2A1, NLRC4, LEP, SOX11, RORC, TUBB, BMP2, FOXP3, HRAS, IL36RN, NDN, AKT1, GNAQ, ITPR2, ASCL1, DTNBP1, WAS, BAP1, UBE3A, FASLG, ALOX12B, CASP8, HTRA1, PSTPIP1, RPS19, PTEN, BMPR1B, IL1RN, GNRH1, ACVRL1, NLRP12, ABCC2, STAT3, RBP4, PFKM, FLNA, SMAD3, NGF, PRKCD, RHBDF2, NR3C1, JAGN1, ITGB4, CHRM3, PTPN11, ATM, DVL3, AP3B1, CAST, SPTLC1, NFKB1, NLRP3, MAP3K1, CACNA1C, INSR, NOTCH1, PLG, SOS1, MSH2, CXCR4, PTPRC, TBX1, GLUL, PCSK9, BDNF, RET, IRF6, CTNS, CTLA4, EDNRB, HLA-C, CDK4, EXPH5, PRKACA, NR0B1, OCLN, MYH11, ATP2A2, HSPG2, ESR1, ATIC, TINF2, FLNB, KRIT1, MTOR, PIK3R1

REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, BRACHYDACTYLY, TYPE A1, D, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, WAARDENBURG SYNDROME, TYPE 4B, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, GRISCELLI SYNDROME, TYPE 1, HUTCHINSON-GILFORD PROGERIA, EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE, DYSAUTONOMIA, FAMILIAL, HERMANSKY-PUDLAK SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, ULNAR-MAMMARY SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, MANDIBULOACRAL DYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MUCKLE-WELLS SYNDROME, IMMUNODEFICIENCY 43, NEUROFIBROMATOSIS, FAMILIAL SPINAL, ATAXIA-TELANGIECTASIA, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, OCULODENTODIGITAL DYSPLASIA, CUTIS LAXA, AD, OPITZ GBBB SYNDROME, TYPE I, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, C2 DEFICIENCY, CINCA SYNDROME, PHELAN-MCDERMID SYNDROME, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, GLUTAMINE DEFICIENCY, CONGENITAL, LOEYS-DIETZ SYNDROME 3, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, DOWLING-DEGOS DISEASE 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, TIETZ ALBINISM-DEAFNESS SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, WAARDENBURG SYNDROME, TYPE 2A, OSTEOGENESIS IMPERFECTA, TYPE I, EMBERGER SYNDROME, NON-IMMUNE HYDROPS FETALIS, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, DARIER DISEASE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, GLYCOGEN STORAGE DISEASE XI, PSEUDOHYPOPARATHYROIDISM IA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 42, ANDROGEN INSENSITIVITY, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, LYMPHEDEMA, HEREDITARY, ID, NEUROFIBROMATOSIS, TYPE 1, LEPRECHAUNISM, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, ESTROGEN RESISTANCE, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, GRISCELLI SYNDROME, TYPE 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, LEOPARD SYNDROME 1, LOEYS-DIETZ SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 4, ACROKERATOSIS VERRUCIFORMIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

PDE4D, CAV1, WNT5A, LMNA, COL1A1, FERMT3, IKBKG, PSEN1, SMARCA4, F2, RAB27A, MYO5A, PPARG, CDK5, PRKAR1A, CDK4, NLRP12, B2M, KISS1R, RAB7A, NPR2, NEU1, PIK3CA, MMP2, BLOC1S6, MITF, CREBBP, IKBKAP, NF1, PTCH1, RASA1, DVL3, TGFB2, ACVR1, KRAS, RUNX1, ELN, AR, GNAS, GLUL, GDNF, CIITA, GATA2, NOD2, MID1, LEP, ATP2A2, JAK2, MSX2, CBL, C2, IFNG, EDN3, LDHA, JUP, TGFBR1, VEGFC, TMEM173, TNFRSF4, TBX3, TSHR, NLRP1, WAS, ACD, PFKM, ITGB3, GJA1, KCNN4, KRT5, SHANK3, STAT1, TGFB3, SLC2A1, NLRC4, RORC, TUBB, HRAS, AKT1, GNAQ, DTNBP1, APOA1, EGFR, ALOX12B, ITGA2B, PTEN, F13A1, ACVRL1, STAT3, RBP4, LCK, FLNA, ZAP70, NGF, PRKCD, ALB, JAGN1, CHRM3, PTPN11, ATM, AP3B1, BMPR1B, NLRP3, PRKACA, INSR, PLG, SOS1, MSH2, PCNA, CTNS, SOX11, EDNRB, FASLG, EXPH5, GNRH1, OCLN, SMAD3, NR3C1, HSPG2, ESR1, TINF2, PIK3R1

HYPER-IGE RECURRENT INFECTION SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BLAU SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, 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, LEOPARD SYNDROME 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PSEUDOHYPOPARATHYROIDISM IC, DIAPHANOSPONDYLODYSOSTOSIS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, IMMUNODEFICIENCY 35, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?IMMUNODEFICIENCY 16, IMMUNODEFICIENCY 43, PYRUVATE KINASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CINCA SYNDROME, LOEYS-DIETZ SYNDROME 3, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 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, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, EPIDERMAL NEVUS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, NEUROFIBROMATOSIS, TYPE 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, CORNELIA DE LANGE SYNDROME 3, TIMOTHY SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ATAXIA-TELANGIECTASIA, WHIM SYNDROME, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, PSORIASIS 14, PUSTULAR, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, TANGIER DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, DARIER DISEASE, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, TYLOSIS WITH ESOPHAGEAL CANCER, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, TUMOR PREDISPOSITION SYNDROME, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ACROKERATOSIS VERRUCIFORMIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ALB, FASLG, FSHB, ATM, LDHA, ITGB3, MYH11, NGF, CDK5, APOA1, RHBDF2, BRAF, SMAD4, NR3C1, DVL3, GNAS, ITGB4, PKLR, NDUFAF2, APOA2, LEP, CAV1, NFKB1, STAT3, P2RY12, CACNA1C, PAX2, FOXP3, WNK1, IL36RN, MTOR, TNFRSF4, AKT1, BMP2, ABCA1, APOB, NLRP12, NLRP3, B2M, IKBKAP, SLC2A1, ESR1, RUNX1, JAK2, EGFR, PCSK9, BDNF, CXCR4, FGF23, TGFBR1, IL1RN, PTPN11, HRAS, HLA-C, BMPER, TSHR, NOD2, NF1, SMAD3, PCNA, ATP2A2, HSPG2, GNRH1, ACVR1, BAP1, TYK2, NOTCH1, SMC3, SF3B4, PTEN, ATIC, HTRA1

BARAITSER-WINTER SYNDROME 1, ATROPHODERMA VERMICULATUM, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, OSTEOGENESIS IMPERFECTA, TYPE I, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, PEUTZ-JEGHERS SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, FACTOR XIIIB DEFICIENCY, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL 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}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HERMANSKY-PUDLAK SYNDROME 1, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, LEOPARD SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, COMPLEMENT FACTOR I DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, STORMORKEN SYNDROME, LOEYS-DIETZ SYNDROME 2, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, IMMUNODEFICIENCY 43, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ACNE INVERSA, FAMILIAL, 3, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ADAMS-OLIVER SYNDROME 5, ADULT SYNDROME, ADAMS-OLIVER SYNDROME 2, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MOYAMOYA 6 WITH ACHALASIA, LOEYS-DIETZ SYNDROME 3, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, CUTIS LAXA, AD, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RUBINSTEIN-TAYBI SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, CYANOSIS, TRANSIENT NEONATAL, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, ANGELMAN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, BRACHYDACTYLY, TYPE A1, PSEUDOHYPOPARATHYROIDISM IA, COFFIN-LOWRY SYNDROME, DONNAI-BARROW SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, EMBERGER SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, 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, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, IMMUNODEFICIENCY 10, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEMOPHILIA A, INCONTINENTIA PIGMENTI, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, DARIER DISEASE, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPERTHYROIDISM, NONAUTOIMMUNE, DUBIN-JOHNSON SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, 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, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, ANGIOEDEMA, HEREDITARY, TYPES I AND II, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PHYTANIC ACID STORAGE DISEASE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, PREMATURE AGING SYNDROME, PENTTINEN TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, LYMPHEDEMA, HEREDITARY, ID, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEPRECHAUNISM, ANDROGEN INSENSITIVITY, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, FACTOR XIIIA DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XVII, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, NOONAN SYNDROME 7, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PALLISTER-HALL SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, GRISCELLI SYNDROME, TYPE 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, NEUROCUTANEOUS MELANOSIS, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, CHEDIAK-HIGASHI SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LOEYS-DIETZ SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 9, ACROKERATOSIS VERRUCIFORMIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

PDE4D, BRCA2, EZH2, CAV1, FGFR1, APOB, CDK5, COL1A1, ABCC2, F8, ACTB, ITGB4, FAS, GNAS, CIITA, TBXA2R, ALDOA, F2, RAB27A, MYO5A, PPARG, PDE11A, PRKAR1A, PHYH, ALB, ITGA2B, PROS1, B2M, STK11, ITGA2, CDKN2A, CBL, ITGA3, PRF1, RAB7A, MMP1, PIK3CA, MMP2, EFEMP2, BLOC1S6, GFI1B, TGFBR2, PDGFRB, CREBBP, PRKACG, CTNNB1, SERPING1, SOX9, RASA1, GP1BA, TGFB2, ACVR1, FBLN5, APOA1, PROC, ELN, EGFR, DLX5, ISG15, SMARCE1, IGF2, FLT4, NOTCH1, GP1BB, LRP1, COL6A1, IKBKG, GATA2, EDNRA, CHRM3, LEP, COL1A2, PIK3CD, ABCA1, JAK2, DOCK6, ORAI1, GUCY1A3, PSEN1, IFNG, STAT1, SPARC, PAPSS2, GP6, VEGFC, TSHR, SLC7A7, GP9, PCNA, RPS6KA3, TP63, PTPRC, SMC3, SOS2, GATA1, FCGR2A, STIM1, TGFBR1, LYST, GJA1, IL2RA, NRAS, ZAP70, SMAD4, COL4A1, VWF, MECP2, KLC2, TGFB3, FLNA, KIF22, VHL, HBG2, BMP2, FOXP3, HRAS, AKT1, KRAS, ITPR2, DDX58, COL18A1, WAS, LDLR, UBE3A, LRP2, IHH, GLI3, HTRA1, PSTPIP1, EFNB1, PTEN, F13A1, ACVRL1, ITGA6, KIT, P2RX1, LCK, SERPINC1, SH2B3, AR, GNAQ, SMAD3, NGF, PRKCD, HNRNPK, ATP2A2, DOCK8, NTRK1, WRN, PTPN11, CXCR4, DTNBP1, AP3B1, CLDN1, F13B, NFKB1, STAT3, P2RY12, CFI, INSR, PLG, SOS1, FGFR2, PLCG2, BRAF, BDNF, CLASP1, RET, IRF6, APC, HFE, EDNRB, HLA-C, CDK4, PRKACA, GNRH1, MYH11, NR3C1, HSPG2, ESR1, ITGB3, ATIC, HPS1, MTOR, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, BECKWITH-WIEDEMANN SYNDROME, ACNE INVERSA, FAMILIAL, 3, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, LYMPHEDEMA, HEREDITARY, IA, MULTIPLE ENDOCRINE NEOPLASIA IIB, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WIEDEMANN-STEINER SYNDROME, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPISODIC PAIN SYNDROME, FAMILIAL, 3, CARDIOFACIOCUTANEOUS SYNDROME, LIMB-MAMMARY SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 8, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, HUTCHINSON-GILFORD PROGERIA, HERMANSKY-PUDLAK SYNDROME 1, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, MULTIPLE SYNOSTOSES SYNDROME 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CARPENTER SYNDROME 2, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HEMOCHROMATOSIS, TYPE 2A, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, EPISODIC PAIN SYNDROME, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, OCULODENTODIGITAL DYSPLASIA, RETICULATE ACROPIGMENTATION OF KITAMURA, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, OLIGODONTIA-COLORECTAL CANCER SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, PHELAN-MCDERMID SYNDROME, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, YUNIS-VARON SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, SCLEROSTEOSIS 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, CORNELIA DE LANGE SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2A, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 17, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DONNAI-BARROW SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CORNELIA DE LANGE SYNDROME 3, FUMARASE DEFICIENCY, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SCLEROSTEOSIS 1, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, LEIOMYOMATOSIS AND RENAL CELL CANCER, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN 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}, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, ADERMATOGLYPHIA, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, RENPENNING SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, 46XY SEX REVERSAL 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, HAY-WELLS SYNDROME, ANDROGEN INSENSITIVITY, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, ACROMICRIC DYSPLASIA, ADULT SYNDROME, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, MECKEL SYNDROME 10, FUHRMANN SYNDROME, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, APERT SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, HERMANSKY-PUDLAK SYNDROME 7, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SMARCAD1, CAV1, FGFR1, WNT5A, LMNA, COL1A1, PRKACA, ACTB, GNAS, PSEN1, DGUOK, FTL, F2, PPARG, CDK5, PRKAR1A, SCN10A, LRP4, STK11, CDKN2A, NOG, ITGA3, PSTPIP1, FH, SMARCA4, PIK3CA, EFEMP2, BMPER, JAG1, GFI1B, MYH3, CREBBP, ECM1, PRKACG, RBPJ, ADAM10, FIG4, PTCH1, WNT7A, RASA1, GRIP1, ACVR1, KRAS, RUNX1, CBL, EGFR, CDKL5, NME1, ZAP70, NOTCH1, THRA, MTOR, EDNRA, SHANK3, MECP2, NFKBIA, MSX2, B9D2, IFNG, KAT6B, TGFBR1, GDNF, CUL7, MEGF8, PCNA, RPS6KA3, TP63, BRAF, SMC3, GATA1, ITGB3, GJA1, SOX9, SMAD4, FLT4, CLASP1, PAX2, LMX1B, PQBP1, COL4A1, BMP2, BRCA1, AKT1, RIPK4, SCN11A, DTNBP1, AXIN2, FASLG, FBN1, EZH2, GLI3, SMC1A, MCM4, CDKN1C, PTEN, CHRM3, STAT3, LCK, AR, FLNA, MYH11, NGF, PRKCD, HNRNPK, NR5A1, NTRK1, MMP2, PTPN11, WAS, MAP3K1, SOST, SOS1, FGFR2, PTPRC, BDNF, RAB7A, RET, HRAS, LRP2, GNRH1, OCLN, SMAD3, IRF6, ESR1, PIK3R1, HFE2

REVESZ SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, BARAITSER-WINTER SYNDROME 1, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, 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, HYPOPHOSPHATASIA, CHILDHOOD, SHORT SYNDROME, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 38, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, COCKAYNE SYNDROME, TYPE B, GALLBLADDER DISEASE 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER 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}, WAARDENBURG SYNDROME, TYPE 3, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), HYPOPHOSPHATASIA, INFANTILE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOPSEUDOHYPOPARATHYROIDISM, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 43, WARSAW BREAKAGE SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, NEUROFIBROMATOSIS, FAMILIAL SPINAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, NOONAN SYNDROME 4, CORNELIA DE LANGE SYNDROME 1, 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, LEPRECHAUNISM, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, SECKEL SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ARTHROGRYPOSIS, DISTAL, TYPE 8, ANDROGEN INSENSITIVITY, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, MULIBREY NANISM, MENTAL RETARDATION, X-LINKED 102, LOEYS-DIETZ SYNDROME 3, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, FILS SYNDROME, ANGELMAN 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, COFFIN-SIRIS SYNDROME 3, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?CHILBLAIN LUPUS 2, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2A, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?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, UV-SENSITIVE SYNDROME 1, COFFIN-LOWRY SYNDROME, HEIMLER SYNDROME 1, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LOEYS-DIETZ SYNDROME 1, NOONAN SYNDROME 8, {PSORIASIS SUSCEPTIBILITY 1}, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, WARBURG MICRO SYNDROME 3, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, LOWE SYNDROME, ?PRUNE BELLY SYNDROME, WISKOTT-ALDRICH SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), 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, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, 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}, 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, WAARDENBURG SYNDROME, TYPE 1, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, NICOLAIDES-BARAITSER SYNDROME, ?AL-GAZALI-BAKALINOVA SYNDROME, HEMOCHROMATOSIS TYPE 1, AMYOTROPHY, HEREDITARY NEURALGIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ATAXIA-TELANGIECTASIA, 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, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, GALACTOSE EPIMERASE DEFICIENCY, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, GLYCOGEN STORAGE DISEASE XI, PSEUDOHYPOPARATHYROIDISM IA, DUBIN-JOHNSON SYNDROME, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, LESCH-NYHAN SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, NOONAN SYNDROME 7, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, AICARDI-GOUTIERES SYNDROME 5, MEIER-GORLIN SYNDROME 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, NEUROFIBROMATOSIS, TYPE 2, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, MYHRE SYNDROME, GRISCELLI SYNDROME, TYPE 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, XERODERMA PIGMENTOSUM, GROUP B, NEUROCUTANEOUS MELANOSIS, SOMATIC, PARIETAL FORAMINA 1, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, XERODERMA PIGMENTOSUM, GROUP D, SMITH-KINGSMORE SYNDROME, COLE DISEASE, 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, TANGIER DISEASE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

SMARCAD1, BRCA2, CAV1, TSC2, CNBP, RAD21, ACTB, ITGB4, PEX14, GNAS, IKBKG, PEX6, ABCD3, TAP1, MSH6, RAB27A, ENPP1, MYO5A, PPARG, PDE11A, PRKAR1A, RECQL4, CTNNB1, B2M, KIF7, KIF1B, AR, RAB7A, SMARCA4, PIK3CA, SOS1, WNK1, GFI1B, ERCC2, OCRL, ADAR, MSH2, ABCC2, RBPJ, ATL3, KIF1A, NF1, SMARCB1, SMARCA2, NF2, GRIP1, ACVR1, KRAS, APOA1, ABCA12, ABCB11, NME1, WRN, PIGT, GLUL, ERCC3, CIITA, SKIV2L, TAF6, ABCA1, IFNG, MSX2, DDX11, C2, JAK2, TPM2, VPS33B, PMS2, TGFBR1, TAF1, ERCC5, BAP1, SAMHD1, ALPL, MLH1, FANCA, TNNT2, RAB18, RPS6KA3, STAT3, BRAF, SMC3, SEPT9, SOS2, BANF1, ATL1, DDX3X, HPRT1, NRAS, MT-ATP6, SMAD4, CDK5, LDHA, CLASP1, RASA1, CBS, STAT1, VHL, BMP2, TUBB, AKT1, GNAQ, GALE, VDR, ASCL1, DDX58, TINF2, SMARCAL1, UBE3A, EGFR, ABCB4, ABCC6, FECH, CDK4, PSTPIP1, PEX5, XPC, CHRM3, MUTYH, POLA1, PFKM, PEX1, ISG15, FLNA, ABCA5, NGF, PRKCD, PAX3, ATR, JAGN1, MYH3, KIF22, HOXC13, ATM, PDE4D, AP3B1, ABCB6, SPTLC1, NFKB1, WAS, ORC1, INSR, PTPN11, POLE, BLM, TAP2, ABCC9, GPX4, RTEL1, PCNA, ERCC6, UNC119, RIT1, PTEN, HRAS, HOXD13, HLA-C, GNRH1, NHP2, SMAD3, NR3C1, ESR1, ITGB3, TRIM37, KRIT1, MTOR, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, ACNE INVERSA, FAMILIAL, 3, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, ADAMS-OLIVER SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA PRURIGINOSA, CARASIL SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PARIETAL FORAMINA 2, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPHOSPHATASIA, INFANTILE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTIPLE SYNOSTOSES SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, PCWH SYNDROME, SADDAN, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEND SYNDROME, FUHRMANN SYNDROME, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, TOOTH AGENESIS, SELECTIVE, 4, ?GLYCOPROTEIN IA DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, ADAMS-OLIVER SYNDROME 3, MULLERIAN APLASIA AND HYPERANDROGENISM, COFFIN-SIRIS SYNDROME 3, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, PRADER-WILLI SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, MULTIPLE ENDOCRINE NEOPLASIA 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, BRACHYDACTYLY, TYPE A1, D, BRACHYDACTYLY, TYPE A1, WAARDENBURG SYNDROME, TYPE 4C, SCHOPF-SCHULZ-PASSARGE SYNDROME, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, EMBERGER SYNDROME, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, KNOBLOCH SYNDROME 1, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OCULOECTODERMAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, CLOVE SYNDROME, SOMATIC, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MUENKE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, HEMOCHROMATOSIS TYPE 1, ELLIS-VAN CREVELD SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, FRONTONASAL DYSPLASIA 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, BECKWITH-WIEDEMANN SYNDROME, WAARDENBURG SYNDROME, TYPE 3, ACROCAPITOFEMORAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, COPROPORPHYRIA, HARDEROPORPHYRIA, PSEUDOHYPOPARATHYROIDISM IA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BRACHYDACTYLY, TYPE B2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, GELEOPHYSIC DYSPLASIA 2, TRANSIENT BULLOUS OF THE NEWBORN, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, MUIR-TORRE SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ULNAR-MAMMARY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, ADULT SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, ACROMICRIC DYSPLASIA, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, HOLOPROSENCEPHALY-5, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, LOEYS-DIETZ SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, F2, WNT5A, COL1A1, ACTB, GNAS, GLI3, COL3A1, EBP, TBX3, ARSB, PPARG, COL5A1, GJA1, SOX10, PLG, NOG, FGF3, TERT, SMARCA4, PIK3CA, ARSE, BMPER, JAG1, WNT4, CREBBP, RBPJ, SF3B4, PTEN, EVC, WNT7A, GNAQ, RUNX1, GPC3, IGF2, FLT4, NOTCH1, CPOX, SMARCB1, GATA2, FGFR1, PSEN1, ITGA2, MSX2, DLL4, SPARC, PAPSS2, JUP, MEN1, HOXA11, RBP4, FGF23, RPS6KA3, STAT3, DEAF1, PAX8, PTCH1, TGFBR1, ALPL, CTNNB1, SOX9, SUFU, SMAD4, ZIC2, PAX2, COL17A1, VHL, COL4A1, BMP2, GDF5, NDN, AKT1, KRAS, VDR, FBN1, SMARCA2, IHH, COL1A2, FBN2, CDKN1C, HOXD13, FGFR3, DLX5, FLNA, HTRA1, NGF, CYBB, PAX3, MMP2, COL5A2, MSX1, TP63, INSR, TRPS1, WNT10A, MSH2, ALX4, COL18A1, SOX11, HRAS, EGFR, GNRH1, SMAD3, SH3PXD2B, BMPR1B, HSPG2, COL7A1, MTOR

{PSORIASIS SUSCEPTIBILITY 1}, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HAJDU-CHENEY SYNDROME, ANDROGEN INSENSITIVITY, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, PERIODIC FEVER, FAMILIAL, IMMUNODEFICIENCY 43, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, BLAU SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ADAMS-OLIVER SYNDROME 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, EPIDERMAL NEVUS, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35

ATM, HLA-C, CREBBP, B2M, TYK2, RBPJ, NOD2, PIK3R1, IFNG, EDNRA, FASLG, NOTCH2, PTPRC, STAT3, HLA-B, TNFRSF1A, AR, FOXP3, HFE, JAK2, HRAS

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, SCLEROSTEOSIS 1, HYPER-IGE RECURRENT INFECTION SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CARASIL SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PYCNODYSOSTOSIS, MULTIPLE SYNOSTOSES SYNDROME 1, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, PSEUDOPSEUDOHYPOPARATHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SADDAN, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FUHRMANN SYNDROME, DU PAN SYNDROME, LEPRECHAUNISM, HYPOCHONDROPLASIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, URBACH-WIETHE DISEASE, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, HEMOPHILIA A, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, BRACHYDACTYLY, TYPE A1, D, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, NON-IMMUNE HYDROPS FETALIS, PEROXISOME BIOGENESIS DISORDER 3B, WHIM SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MUENKE SYNDROME, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, GLYCOGEN STORAGE DISEASE VII, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, VAN MALDERGEM SYNDROME 2, PSEUDOHYPOPARATHYROIDISM IA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BRACHYDACTYLY, TYPE B2, PHYTANIC ACID STORAGE DISEASE, 46XY SEX REVERSAL 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VAN MALDERGEM SYNDROME 1, HYPOPHOSPHATASIA, CHILDHOOD, OSTEOGENESIS IMPERFECTA, TYPE XVII, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, PROTEUS SYNDROME, SOMATIC, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

SOX9, PEX14, GDF5, SLC26A2, FGFR3, NGF, APOB, AXIN2, DCHS1, COL1A1, RUNX1, F8, CTSK, GNAS, WNT5A, FAT4, SOST, INSR, PEX12, THRA, CHRM3, TGFB3, ALDOA, HTRA1, LEP, GDF2, PPARG, ECM1, MAP3K1, PAX2, COL6A1, PSEN1, ITGA2, WNT7A, AKT1, BMP2, FZD6, SOX10, CXCR4, ESR1, CREBBP, PHYH, NOG, APOA1, JAK2, CDK5, SPARC, TGFBR1, PEX7, NPR2, FGF23, PFKM, F2, ACVRL1, HRAS, EGFR, ALPL, BMPER, JAG1, EXT2, IFNG, SMAD3, BDNF, BMPR1B, HSPG2, STAT3, MSX2, DLX5, CTNNB1, MMP2

SHORT SYNDROME, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IC, CORNELIA DE LANGE SYNDROME 3, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, COLD-INDUCED SWEATING SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PERIODIC FEVER, FAMILIAL, IMMUNODEFICIENCY 42, ANDROGEN INSENSITIVITY, {PSORIASIS SUSCEPTIBILITY 1}, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, HAJDU-CHENEY SYNDROME, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COFFIN-SIRIS SYNDROME 4, LYMPHEDEMA, HEREDITARY, ID, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, C2 DEFICIENCY, BANNAYAN-RILEY-RUVALCABA SYNDROME, RUBINSTEIN-TAYBI SYNDROME, COMPLEMENT FACTOR I DEFICIENCY, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, COFFIN-SIRIS SYNDROME 3, BLAU SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, OSSEOUS HETEROPLASIA, PROGRESSIVE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, IMMUNODEFICIENCY 35, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PSEUDOPSEUDOHYPOPARATHYROIDISM, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

LCK, FASLG, SLC2A1, PPARG, SMARCA4, GJA1, PRKCD, HNRNPK, AR, FAS, GNAS, MMP2, NOTCH2, ATM, STAT1, RORC, EDNRA, STAT3, HLA-B, MECP2, FOXP3, AKT1, IL7R, BTK, ESR1, B2M, PTPRC, C2, CFI, RUNX1, JAK2, EGFR, PTPN11, VEGFC, HFE, SMARCB1, HLA-C, RBPJ, IFNG, PTEN, CREBBP, TNFRSF1A, NOD2, CLCF1, TYK2, SMC3, PIK3R1

MULLERIAN APLASIA AND HYPERANDROGENISM, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, PAPILLORENAL SYNDROME, GLUCOCORTICOID RESISTANCE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, 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, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ACNE INVERSA, FAMILIAL, 3, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, RETICULATE ACROPIGMENTATION OF KITAMURA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?IMMUNODEFICIENCY 16, IMMUNODEFICIENCY 43, ?GLYCOPROTEIN IA DEFICIENCY, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NAXOS DISEASE, LOEYS-DIETZ SYNDROME 3, OCCIPITAL HORN SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, {MELANOMA, CUTANEOUS MALIGNANT, 3}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, WAARDENBURG SYNDROME, TYPE 2A, EMBERGER SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, GRISCELLI SYNDROME, TYPE 1, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, ATAXIA-TELANGIECTASIA, ACNE INVERSA, FAMILIAL, 1, WHIM SYNDROME, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, COFFIN-SIRIS SYNDROME 1, ?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}, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ABLEPHARON-MACROSTOMIA SYNDROME, HEMOCHROMATOSIS TYPE 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, EPIDERMAL NEVUS, BLEEDING DISORDER, PLATELET-TYPE, 11, 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, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, AYME-GRIPP SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, MENKES DISEASE, BARBER-SAY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ANDROGEN INSENSITIVITY, MYHRE SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, NOONAN SYNDROME 7, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, TIETZ ALBINISM-DEAFNESS SYNDROME, OMENN SYNDROME, WISKOTT-ALDRICH SYNDROME, PALLISTER-HALL SYNDROME, GRISCELLI SYNDROME, TYPE 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

BRCA2, MITF, MMP2, APOB, RAG1, PSEN1, RAB27A, MYO5A, PPARG, CDK5, CDK4, WNT5A, BTK, B2M, ITGA2, PRF1, WNT4, CREBBP, IL2RG, CTNNB1, PTEN, FANCD2, SMARCA2, ACTB, KRAS, RUNX1, TWIST2, AR, NCSTN, NOTCH1, MTOR, PIK3CD, JAK2, CBL, SMARCE1, IFNG, CLEC7A, JUP, TGFBR1, FCGR2A, TNFRSF4, IL7R, RAG2, WAS, TYK2, PAX8, FASLG, GP6, GJA1, SMAD4, PAX2, STAT1, APC, RORC, BMP2, TUBB, FOXP3, BRCA1, AKT1, SMARCA4, VDR, LDLR, EGFR, CASP8, GLI3, PSTPIP1, EFNB1, ADAM10, XRCC4, PTPN22, MAF, BRAF, KIT, LCK, ZAP70, NGF, PRKCD, PAX3, LAMC2, NR5A1, DOCK8, PTPN11, ATM, ATP7A, NFKB1, STAT3, HLA-B, PLG, SOS1, BLM, CXCR4, PTPRC, CD3G, PCNA, ADAM17, CTLA4, HRAS, HLA-C, SMAD3, NR3C1, HSPG2, ESR1, GATA2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, ROBINOW SYNDROME, CORNELIA DE LANGE SYNDROME 3, HYPER-IGE RECURRENT INFECTION SYNDROME, COLD-INDUCED SWEATING SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PERIODIC FEVER, FAMILIAL, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, ?IMMUNODEFICIENCY 16, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LYMPHEDEMA, HEREDITARY, ID, PYRUVATE KINASE DEFICIENCY, IMMUNODEFICIENCY 35, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, MELNICK-NEEDLES SYNDROME, RUBINSTEIN-TAYBI SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, BLAU SYNDROME, GLANZMANN THROMBASTHENIA, 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, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE 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}, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?IMMUNODEFICIENCY 22, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

LCK, FASLG, TGFB2, WNT5A, APOA1, CASP8, FAS, CHRM3, PKLR, CXCR4, STAT1, TGFB3, APOA2, ACVRL1, FOXP3, PTPN11, FLNA, TNFRSF4, AKT1, MMP2, BTK, ATM, B2M, FOXP1, TYK2, ESR1, IFNG, EGFR, TGFBR1, VEGFC, CDK4, TNFRSF1A, HLA-C, NOD2, RBP4, CREBBP, HSPG2, GNRH1, STAT3, ITGB3, CLCF1, PTPRC, SMC3, PIK3R1

ADAMS-OLIVER SYNDROME 5, MULLERIAN APLASIA AND HYPERANDROGENISM, LOEYS-DIETZ SYNDROME 5, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, COPROPORPHYRIA, HARDEROPORPHYRIA, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, OSTEOGENESIS IMPERFECTA, TYPE I, PAPILLORENAL SYNDROME, WEAVER SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LOEYS-DIETZ SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ADAMS-OLIVER SYNDROME 3, PEUTZ-JEGHERS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, RETICULATE ACROPIGMENTATION OF KITAMURA, OSTEOGENESIS IMPERFECTA, TYPE II, OLIGODONTIA-COLORECTAL CANCER SYNDROME, GELEOPHYSIC DYSPLASIA 2, COFFIN-SIRIS SYNDROME 4, LATERAL MENINGOCELE SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ANDROGEN INSENSITIVITY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, NAXOS DISEASE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, ACROMICRIC DYSPLASIA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, BRACHYDACTYLY, TYPE A1, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, DENTAL ANOMALIES AND SHORT STATURE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ESTROGEN RESISTANCE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ALAGILLE SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, EPIDERMAL NEVUS, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PARIETAL FORAMINA 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, BRACHYDACTYLY, TYPE A1, D, WEILL-MARCHESANI SYNDROME 2, DOMINANT, WAARDENBURG SYNDROME, TYPE 3, LOEYS-DIETZ SYNDROME 4, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ACROCAPITOFEMORAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PROTEUS SYNDROME, SOMATIC

SOX9, EZH2, TGFB2, CTNNB1, AXIN2, COL1A1, SMAD4, CREBBP, AR, ASCL1, FLT4, MMP2, PAX2, CPOX, TGFB3, TBX3, PPARG, ESR1, BMP2, NOTCH1, AKT1, IHH, SMARCA4, KDM6A, PAX8, STK11, CDKN2A, RUNX1, JAK2, JUP, WNT4, FBN1, PDGFRA, TGFBR1, GLI3, HRAS, JAG1, NOTCH3, TGFBR2, SMAD3, LTBP3, BMPR1B, STAT3, MSX2, DLX5, RBPJ, ADAM10, PAX3

?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, BARAITSER-WINTER SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, HUTCHINSON-GILFORD PROGERIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LARSEN SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, 46XY SEX REVERSAL 6, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, PREMATURE OVARIAN FAILURE 7, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MELNICK-NEEDLES SYNDROME, NAXOS DISEASE, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, WIEDEMANN-STEINER SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, RESTRICTIVE DERMOPATHY, LETHAL, {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, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EPIDERMAL NEVUS, MANDIBULOACRAL DYSPLASIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, CORNELIA DE LANGE SYNDROME 2, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA

NCF1, PEX14, CAV1, CTNNB1, LMNA, SUFU, ACTB, NR5A1, CLASP1, RFXANK, TAP1, GRIP1, LRP1, STAT1, WAS, MAP3K1, APOB, FLNA, SMC1A, CEP57, DST, ESR1, DSP, LRPPRC, NFKBIA, THRA, JUP, RAB7A, EZH2, FLNB, HRAS, ALB, STAT3, ITGA6, ACD, SMC3

{PSORIASIS SUSCEPTIBILITY 1}, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ANDROGEN INSENSITIVITY, 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, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LYMPHEDEMA, HEREDITARY, ID, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, C2 DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, BLAU SYNDROME, ANGELMAN SYNDROME, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 35, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, LEOPARD SYNDROME 1, IMMUNODEFICIENCY 43, EPIDERMAL NEVUS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME

IL7R, RUNX1, HNRNPK, HLA-C, AR, MECP2, ESR1, HLA-B, PTPN11, FOXP3, JAK2, B2M, TYK2, C2, IFNG, EGFR, VEGFC, HRAS, FASLG, CREBBP, NOD2, PTPRC, HFE

ATAXIA-TELANGIECTASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HAJDU-CHENEY SYNDROME, ANDROGEN INSENSITIVITY, {PSORIASIS SUSCEPTIBILITY 1}, SHORT SYNDROME, PERIODIC FEVER, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, BLAU SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ADAMS-OLIVER SYNDROME 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, EPIDERMAL NEVUS, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, IMMUNODEFICIENCY 43, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35

ATM, FASLG, HLA-C, CREBBP, AR, RBPJ, NOD2, PIK3R1, IFNG, B2M, NOTCH2, TYK2, STAT3, HLA-B, TNFRSF1A, PTPRC, FOXP3, HFE, JAK2, HRAS

ADAMS-OLIVER SYNDROME 5, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, DIGEORGE SYNDROME, WEAVER SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MISMATCH REPAIR CANCER SYNDROME, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BRANCHIOOCULOFACIAL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, MUIR-TORRE SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ADAMS-OLIVER SYNDROME 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ESTROGEN RESISTANCE, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ACNE INVERSA, FAMILIAL, 3, CORNELIA DE LANGE SYNDROME 1, PARIETAL FORAMINA 1, ROBINOW SYNDROME

ALPL, WNT5A, TFAP2A, NOTCH1, TBX3, GJA1, BMP2, PSEN1, CTNNB1, MSH2, NIPBL, EGFR, SOX18, EZH2, SOX11, FASLG, SMAD3, SMAD4, ALB, ESR1, MSX2, TBX1, RBPJ, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ADAMS-OLIVER SYNDROME 5, RABSON-MENDENHALL SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, OSTEOGENESIS IMPERFECTA, TYPE I, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FUHRMANN SYNDROME, KNOBLOCH SYNDROME 1, KOSAKI OVERGROWTH SYNDROME, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, CORNELIA DE LANGE SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, COFFIN-SIRIS SYNDROME 4, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, EHLERS-DANLOS SYNDROME, TYPE 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA PRURIGINOSA, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, TOENAIL DYSTROPHY, ISOLATED, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, TRICHOHEPATOENTERIC SYNDROME 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ANDROGEN INSENSITIVITY, ?GLYCOPROTEIN IA DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, DARIER DISEASE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PCWH SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, JOHANSON-BLIZZARD SYNDROME, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, OSTEOGENESIS IMPERFECTA, TYPE II, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TRANSIENT BULLOUS OF THE NEWBORN, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, GLUTAMINE DEFICIENCY, CONGENITAL, WAARDENBURG SYNDROME, TYPE 4C, ACROKERATOSIS VERRUCIFORMIS, BLEEDING DISORDER, PLATELET-TYPE, 17, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SOX9, AR, ITGB3, PPARG, SMARCA4, PRKCD, WNT7A, HCCS, SMAD4, RAD21, COL4A1, COL5A2, NOTCH1, COL17A1, GLUL, CYBA, SKIV2L, VHL, MTHFR, INSR, COL3A1, ITGA2, AKT1, MMP2, SOX10, ASCL1, COL6A1, CDKN2A, IFNG, PDGFRA, PCNA, COL1A1, COL18A1, F2, UBR1, PTEN, TNFRSF1A, COL1A2, EGFR, GFI1B, PDGFRB, SMAD3, LAMTOR2, ATP2A2, STAT3, MTOR, COL7A1

MULLERIAN APLASIA AND HYPERANDROGENISM, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, KOSAKI OVERGROWTH SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GLYCOPROTEIN IA DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LOEYS-DIETZ SYNDROME 3, ACROMICRIC DYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MARFAN LIPODYSTROPHY SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GELEOPHYSIC DYSPLASIA 2, WEILL-MARCHESANI SYNDROME 2, DOMINANT, BRACHYDACTYLY, TYPE A1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROCAPITOFEMORAL DYSPLASIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, STIFF SKIN SYNDROME

EGFR, TGFB3, IHH, F2, LEP, ENG, RUNX1, PDGFRB, SOX9, SMAD3, STAT3, COL1A1, B2M, BMP2, PTEN, FBN1, ITGA2, SERPINB7, CIITA, WNT4, MMP2

ATAXIA-TELANGIECTASIA, ROBERTS SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, CORNELIA DE LANGE SYNDROME 3, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, ADAMS-OLIVER SYNDROME 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP P, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SECKEL SYNDROME 1, CORNELIA DE LANGE SYNDROME 4, MISMATCH REPAIR CANCER SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, NIJMEGEN BREAKAGE SYNDROME, MUIR-TORRE SYNDROME, SECKEL SYNDROME 2, OVARIAN DYSGENESIS 4, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, WIEDEMANN-STEINER SYNDROME, FILS SYNDROME, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, SC PHOCOMELIA SYNDROME, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, OMENN SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, WAARDENBURG SYNDROME, TYPE 3, CORNELIA DE LANGE SYNDROME 2, RIDDLE SYNDROME, COFFIN-SIRIS SYNDROME 4, ADERMATOGLYPHIA

SMARCAD1, BRCA2, SMARCA4, PAX3, RAD21, RNF168, WRN, ATM, DCLRE1C, MLH1, BLM, RBBP8, POLD1, ERCC4, MCM9, BRCA1, SMC1A, MSH2, ESCO2, TERT, PCNA, SLX4, NBN, POLE, MCM4, EGFR, RBPJ, XRCC4, ATR, POLA1, SMC3, FANCD2

BARAITSER-WINTER SYNDROME 1, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, EHLERS-DANLOS SYNDROME, TYPE 3, HEPATIC LIPASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 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}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PYCNODYSOSTOSIS, 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, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, INCONTINENTIA PIGMENTI, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, NESTOR-GUILLERMO PROGERIA SYNDROME, ADAMS-OLIVER SYNDROME 5, ADULT SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MOYAMOYA 6 WITH ACHALASIA, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, EPIDERMOLYTIC HYPERKERATOSIS, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PYRUVATE KINASE DEFICIENCY, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, SINGLETON-MERTEN SYNDROME 1, CINCA SYNDROME, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, NAXOS DISEASE, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, MUCKLE-WELLS SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, HAY-WELLS SYNDROME, COFFIN-LOWRY SYNDROME, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, EMBERGER SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, MEDNIK SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, EVEN-PLUS SYNDROME, KLEEFSTRA SYNDROME, ?CHILBLAIN LUPUS 2, IMMUNODEFICIENCY 38, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CRIGLER-NAJJAR SYNDROME, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, OCULOECTODERMAL SYNDROME, ATAXIA-TELANGIECTASIA, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, PSORIASIS 14, PUSTULAR, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RENPENNING SYNDROME, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, WISKOTT-ALDRICH SYNDROME, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEMOPHILIA A, NICOLAIDES-BARAITSER SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, EHLERS-DANLOS SYNDROME, TYPE IV, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, CLOVE SYNDROME, SOMATIC, VAN DEN ENDE-GUPTA SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, AYME-GRIPP SYNDROME, GLYCOGEN STORAGE DISEASE XI, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, GELEOPHYSIC DYSPLASIA 2, HYPOPHOSPHATASIA, CHILDHOOD, LYMPHEDEMA, HEREDITARY, ID, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ANDROGEN INSENSITIVITY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE XVII, ACROMICRIC DYSPLASIA, 3MC SYNDROME 1, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PALLISTER-HALL SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, MARFAN LIPODYSTROPHY SYNDROME, FACTOR XIIIA DEFICIENCY, XERODERMA PIGMENTOSUM, GROUP B, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, C4A DEFICIENCY, CHEDIAK-HIGASHI SYNDROME, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, PEELING SKIN SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, HEMOCHROMATOSIS, TYPE 2B, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

PDE4D, PEX14, CAV1, APOB, UGT1A1, MMP1, ST14, F8, ACTB, FAS, IKBKG, COL3A1, ACP5, F2, PPARG, CTNNB1, CDK5, SPARC, PRKAR1A, ALB, ITGA2B, WNT5A, BTK, B2M, PLG, CDKN2A, SCARF2, PRF1, RAB7A, NEU1, NFKBIA, PIK3CA, MMP2, NOTCH1, EFEMP2, WAS, GFI1B, PDGFRB, SMAD4, CREBBP, RBPJ, SMARCA2, IFIH1, TGFB2, F13A1, KRAS, RUNX1, IL31RA, EGFR, LZTR1, ISG15, IGF2, PKLR, PIK3CD, ERCC3, NR1I3, CIITA, GATA2, LDHA, EDNRA, LEP, TBXA2R, ITGA2, MSH6, ABCA1, JAK2, ESR1, CBL, GUCY1A3, CARD9, IFNG, C4A, JUP, LIPC, CLEC7A, NCF2, VEGFC, AP1S1, TNFRSF1A, TMEM173, OCLN, TNFRSF4, ALPL, TSHR, NLRP1, PCNA, RPS6KA3, TP63, DVL3, TYK2, NFKB2, GATA1, NCF1, BANF1, PFKM, DDX3X, GJA1, IL2RA, C2, ADAR, CTSK, MECP2, STAT1, NLRC4, RORC, PQBP1, IL10RB, BMP2, FOXP3, HRAS, IL36RN, AKT1, SMARCA4, TAPBP, VDR, CYBB, DDX58, APOA1, LDLR, PRKCD, FASLG, FBN1, CASP8, GLI3, FANCA, HSPA9, EFNB1, PTEN, IL1RN, HAMP, MAF, GNRH1, NOD2, TPI1, DLX5, GDF2, NHP2, LCK, DDX41, AR, FLNA, ZAP70, NGF, MASP1, HNRNPK, IRF6, NR5A1, LYST, PTPN11, ATM, TNFAIP3, SPTLC1, NFKB1, STAT3, MAP3K1, SAMHD1, INSR, HLA-B, RFXANK, IL10RA, CXCR4, ALDOA, PLCG2, PTPRC, CYBA, ABCC9, BDNF, ADAM17, FLNB, EDNRB, COL1A2, HLA-C, CDSN, PRKACA, SFTPC, EPOR, SMAD3, KRT1, HSPG2, NLRP3, ITGB3, PIK3R1, C10orf2, HFE, MTOR, ATIC

PAPILLORENAL SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DIGEORGE SYNDROME, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, TRIGONOCEPHALY 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LOEYS-DIETZ SYNDROME 3, COFFIN-SIRIS SYNDROME 4, OSTEOGLOPHONIC DYSPLASIA, FRONTONASAL DYSPLASIA 2, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, PARIETAL FORAMINA 2, PALLISTER-HALL SYNDROME, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME

SMARCA4, EGFR, TBX1, HOXA11, WNT5A, GDNF, FGFR1, FGF3, SMAD3, BMP2, STAT3, DLX5, ALX4, GLI3, AKT1, CTNNB1, PAX2

MULLERIAN APLASIA AND HYPERANDROGENISM, LOEYS-DIETZ SYNDROME 5, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, KOSAKI OVERGROWTH SYNDROME, PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LOEYS-DIETZ SYNDROME 3, CARASIL SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, HYPERTHYROIDISM, NONAUTOIMMUNE, LEOPARD SYNDROME 1, DIAPHANOSPONDYLODYSOSTOSIS, BRACHYDACTYLY, TYPE A1, ?GLYCOPROTEIN IA DEFICIENCY, ACROCAPITOFEMORAL DYSPLASIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

TSHR, EGFR, TGFB3, IHH, F2, ENG, SMAD3, PDGFRB, SOX9, RUNX1, LEP, BMP2, PTEN, ITGA2, SERPINB7, BMPER, WNT4, PTPN11, HTRA1

MULLERIAN APLASIA AND HYPERANDROGENISM, BARAITSER-WINTER SYNDROME 1, ATROPHODERMA VERMICULATUM, OSTEOGENESIS IMPERFECTA, TYPE I, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BLAU 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}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FAMILIAL MEDITERRANEAN FEVER, AR, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, LOEYS-DIETZ SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TRIGONOCEPHALY 1, DIAPHANOSPONDYLODYSOSTOSIS, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ADAMS-OLIVER SYNDROME 5, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, OCULODENTODIGITAL DYSPLASIA, HAJDU-CHENEY SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, PYRUVATE KINASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, VAN DEN ENDE-GUPTA SYNDROME, BRACHYDACTYLY, TYPE A1, D, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, WIEDEMANN-STEINER SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, TANGIER DISEASE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CORNELIA DE LANGE SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, PERIODIC FEVER, FAMILIAL, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, NOONAN SYNDROME 7, WISKOTT-ALDRICH SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

FASLG, SHOC2, NF2, TGFBR1, CAV1, CTNNB1, CDK5, APOA1, PSTPIP1, MTOR, IFNG, PTEN, BMPR1B, RFXANK, NOTCH2, NTRK1, CHRM3, PKLR, STAT1, FLNA, AP3B1, IKBKG, GJA1, FGFR1, ESR1, MAP3K1, BMP2, PRKAR1A, NOTCH1, PLG, TBXA2R, ITGB3, AKT1, ABCA1, NGF, TPI1, RUNX1, CBL, KISS1R, F2, BRAF, WAS, SCARF2, EGFR, LRP2, BDNF, PFKM, GDNF, APC, SMC1A, HRAS, COL1A2, CDKN1C, BMPER, MEFV, TSHR, PRKACA, NOD2, ACTB, TGFBR2, SMAD3, PCNA, NR3C1, LRP1, TNFRSF1A, STAT3, NPR2, C10orf2, PTPN11, SMC3, WNT4

LOEYS-DIETZ SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, COFFIN-SIRIS SYNDROME 4, PREMATURE OVARIAN FAILURE 7, LYMPHEDEMA, HEREDITARY, ID, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, MENTAL RETARDATION, X-LINKED 102, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ADULT SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ESTROGEN RESISTANCE, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, PARIETAL FORAMINA 2, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LIMB-MAMMARY SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, AU-KLINE SYNDROME, PRADER-WILLI SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, FRONTONASAL DYSPLASIA 2, KABUKI SYNDROME 1, HAY-WELLS SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

SOX9, DDX3X, SMAD3, NGF, CDK5, HNRNPK, SLC9A6, NR5A1, MSX1, KMT2D, FLNA, MTOR, PPARG, ESR1, USP9X, NDN, AKT1, SMARCA4, VDR, NFKBIA, CLASP1, BDNF, TGFBR1, VEGFC, GNRH1, MYH11, TP63, ALX4, CTNNB1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, ATROPHODERMA VERMICULATUM, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ALSTROM SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, MYOTONIC DYSTROPHY 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BLAU SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, OPITZ GBBB SYNDROME, TYPE II, 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, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FAMILIAL MEDITERRANEAN FEVER, AR, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, IMMUNODEFICIENCY 43, DIAPHANOSPONDYLODYSOSTOSIS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, PEELING SKIN SYNDROME 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ADAMS-OLIVER SYNDROME 3, INCONTINENTIA PIGMENTI, PERIODIC FEVER, FAMILIAL, RETICULATE ACROPIGMENTATION OF KITAMURA, WAARDENBURG SYNDROME, TYPE 3, RUBINSTEIN-TAYBI SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, BROOKE-SPIEGLER SYNDROME, PYRUVATE KINASE DEFICIENCY, MULIBREY NANISM, CINCA SYNDROME, PHELAN-MCDERMID SYNDROME, FRASER SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, FUHRMANN SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, OSTEOGENESIS IMPERFECTA, TYPE I, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, 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, CYLINDROMATOSIS, FAMILIAL, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, VAN DEN ENDE-GUPTA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BARAITSER-WINTER SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, NON-IMMUNE HYDROPS FETALIS, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, LOWE SYNDROME, NOONAN SYNDROME 4, CORNELIA DE LANGE SYNDROME 4, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, OSTEOGENESIS IMPERFECTA, TYPE II, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, WIEDEMANN-STEINER SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?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, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TANGIER DISEASE, WAARDENBURG SYNDROME, TYPE 1, DARIER DISEASE, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPERTHYROIDISM, NONAUTOIMMUNE, OPITZ GBBB SYNDROME, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, 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, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, HAJDU-CHENEY SYNDROME, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LYMPHEDEMA, HEREDITARY, ID, BRACHYDACTYLY, TYPE A1, D, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CUTIS LAXA, AD, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MECKEL SYNDROME 10, WISKOTT-ALDRICH SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AU-KLINE SYNDROME, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ACROKERATOSIS VERRUCIFORMIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, CAV1, FGFR1, APOB, COL1A1, RAD21, PRKACA, ACTB, GNAS, IKBKG, COL1A2, APOA1, FTL, F2, KRIT1, CYLD, CDK5, PRKAR1A, KISS1R, CDSN, B2M, IL2RA, DST, PSTPIP1, CLASP1, NPR2, SHOC2, NOTCH1, PRF1, BMPER, GFI1B, MEFV, TGFBR2, SMAD4, CREBBP, OCRL, SPECC1L, PDGFRB, WNT7A, NF2, GRIP1, RUNX1, CBL, ELN, EGFR, LZTR1, NOTCH2, LRP1, GDNF, MTOR, EDNRA, CHRM3, MID1, LEP, TBXA2R, ITGA2, ABCA1, JAK2, NLRP3, B9D2, IFNG, VPS33B, TGFBR1, VEGFC, RBPJ, TNFRSF1A, TSHR, PCNA, RPS6KA3, STAT3, BRAF, SMC3, NCF1, PFKM, ITGB3, CTNNB1, KCNN4, CSTA, ADAR, RFXANK, RASA1, SHANK3, PAX2, STAT1, TGFB3, NLRC4, KIF1B, BMP2, BRCA1, AKT1, TPI1, ASCL1, WAS, LRP2, CASP8, EZH2, SMC1A, CDKN1C, PTEN, ALMS1, TSC1, NOD2, LCK, FLNA, NGF, PRKCD, HNRNPK, PAX3, NR3C1, NTRK1, PTPN11, CXCR4, AP3B1, BMPR1B, DMPK, NEB, MAP3K1, PKLR, PLG, SOS1, SCARF2, TRIM37, PDGFRA, BDNF, APC, HRAS, FASLG, WNT4, SMAD3, ADAM10, ATP2A2, HSPG2, ESR1, PIK3R1, C10orf2, KIF1BP, CAST

{PSORIASIS SUSCEPTIBILITY 1}, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP P, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, XERODERMA PIGMENTOSUM, GROUP C, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, PREMATURE OVARIAN FAILURE 7, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, IMMUNODEFICIENCY 38, MULIBREY NANISM, MUIR-TORRE SYNDROME, SECKEL SYNDROME 2, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, DYSKERATOSIS CONGENITA, X-LINKED, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, LOEYS-DIETZ SYNDROME 3, ADAMS-OLIVER SYNDROME 3, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, OMENN SYNDROME, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, XERODERMA PIGMENTOSUM, GROUP B, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ESTROGEN RESISTANCE, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, XERODERMA PIGMENTOSUM, GROUP D, ADERMATOGLYPHIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CHILBLAIN LUPUS, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

SMARCAD1, BANF1, AR, MSH6, TREX1, MYH11, FOXL2, MUTYH, ISG15, CUL4B, NR5A1, ATM, ERCC3, DNASE1, MLH1, RBBP8, ERCC4, DKC1, BLM, TRIM37, LRPPRC, TERT, PCNA, SLX4, DCLRE1C, NME1, ERCC5, HLA-C, ERCC2, SMAD3, XPC, ESR1, C10orf2, RBPJ, POLA1

REVESZ SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, BARAITSER-WINTER SYNDROME 1, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NOONAN SYNDROME 8, SHORT SYNDROME, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 38, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, COCKAYNE SYNDROME, TYPE B, ZIMMERMANN-LABAND SYNDROME 2, GALLBLADDER DISEASE 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, EVEN-PLUS SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, WAARDENBURG SYNDROME, TYPE 3, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), HYPOPHOSPHATASIA, INFANTILE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, GLYCOGEN STORAGE DISEASE XII, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOPSEUDOHYPOPARATHYROIDISM, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 43, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, WARSAW BREAKAGE SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, NEUROFIBROMATOSIS, FAMILIAL SPINAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, NOONAN SYNDROME 4, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, INCONTINENTIA PIGMENTI, 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, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, PYRUVATE KINASE DEFICIENCY, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, LOEYS-DIETZ SYNDROME 3, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, 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, 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, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2A, 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, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HEIMLER SYNDROME 2, PSEUDOHYPOPARATHYROIDISM IA, COFFIN-LOWRY SYNDROME, HEIMLER SYNDROME 1, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, LOEYS-DIETZ SYNDROME 1, BJORNSTAD SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, LOWE SYNDROME, ?PRUNE BELLY SYNDROME, WISKOTT-ALDRICH SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, 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, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, 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}, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, DUBIN-JOHNSON SYNDROME, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, WAARDENBURG SYNDROME, TYPE 1, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, NICOLAIDES-BARAITSER SYNDROME, ?AL-GAZALI-BAKALINOVA SYNDROME, HEMOCHROMATOSIS TYPE 1, AMYOTROPHY, HEREDITARY NEURALGIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ATAXIA-TELANGIECTASIA, BECKWITH-WIEDEMANN 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, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, GLYCOGEN STORAGE DISEASE XI, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MENKES DISEASE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ANDROGEN INSENSITIVITY, ERYTHROCYTOSIS, FAMILIAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, HYPOPHOSPHATASIA, CHILDHOOD, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, 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, NEUROFIBROMATOSIS, TYPE 2, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, MYHRE SYNDROME, GRISCELLI SYNDROME, TYPE 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, XERODERMA PIGMENTOSUM, GROUP B, NEUROCUTANEOUS MELANOSIS, SOMATIC, PARIETAL FORAMINA 1, WARBURG MICRO SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 12, XERODERMA PIGMENTOSUM, GROUP D, SMITH-KINGSMORE SYNDROME, COLE DISEASE, 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, TANGIER DISEASE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

NF1, SMARCAD1, BRCA2, CAV1, TSC2, CNBP, RAD21, PRKACA, ACTB, ITGB4, PEX14, GNAS, IKBKG, PEX6, ABCD3, TAP1, MSH6, ATP6V1B2, ENPP1, MYO5A, TUBB, CDK5, PRKAR1A, RECQL4, B2M, AR, KIF7, KIF1B, CDKN1C, RAB7A, SMARCA4, PIK3CA, SOS1, WNK1, GFI1B, ERCC2, OCRL, SMAD4, MSH2, ABCC2, RBPJ, ATL3, KIF1A, HOXD13, SMARCA2, NF2, GRIP1, ACVR1, KRAS, APOA1, ABCA12, ABCB11, ISG15, WRN, PIGT, PKLR, ERCC3, CIITA, SKIV2L, MLH1, TAF6, ABCA1, IFNG, MSX2, DDX11, C2, JAK2, TPM2, VPS33B, TGFBR1, TAF1, BAP1, ALPL, RAB27A, TSHR, TNNT2, RAB18, RPS6KA3, STAT3, BRAF, SMC3, SEPT9, SOS2, BANF1, ATL1, DDX3X, CTNNB1, NRAS, MT-ATP6, ADAR, LDHA, CLASP1, RASA1, CBS, CTNS, STAT1, APOA2, VHL, SMARCAL1, BCS1L, BMP2, AKT1, GNAQ, ASCL1, DDX58, EGFR, ABCB4, ABCC6, FECH, CDK4, PSTPIP1, FANCA, HSPA9, PEX5, XPC, CHRM3, NHP2, PFKM, PEX1, NME1, FLNA, ABCA5, NGF, PRKCD, PAX3, NR3C1, JAGN1, MYH3, KIF22, HOXC13, ATM, ATP7A, ABCB6, SPTLC1, NFKB1, WAS, ORC1, INSR, POLE, BLM, ALDOA, TINF2, ABCC9, PMS2, RTEL1, PCNA, ERCC6, UNC119, RIT1, PTEN, HRAS, HLA-C, AP3B1, GNRH1, EPOR, SMAD3, ATR, ESR1, ITGB3, PIK3R1, TAP2, KRIT1, MTOR, SURF1

WAARDENBURG SYNDROME, TYPE 2A, ADAMS-OLIVER SYNDROME 5, PREMATURE OVARIAN FAILURE 7, ATAXIA-TELANGIECTASIA, AYME-GRIPP SYNDROME, ACNE INVERSA, FAMILIAL, 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYPER-IGE RECURRENT INFECTION SYNDROME, INCONTINENTIA PIGMENTI, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENKES DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MISMATCH REPAIR CANCER SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, NIJMEGEN BREAKAGE SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, MUIR-TORRE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, LOEYS-DIETZ SYNDROME 3, BLAU SYNDROME, SHORT SYNDROME, OCCIPITAL HORN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ESTROGEN RESISTANCE, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, TIETZ ALBINISM-DEAFNESS SYNDROME, POPLITEAL PTERYGIUM SYNDROME 1, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, IMMUNODEFICIENCY 35, GRISCELLI SYNDROME, TYPE 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, RIDDLE SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, IMMUNODEFICIENCY 43, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, EPIDERMAL NEVUS, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

LCK, FASLG, MSH6, SMAD3, SMARCA4, APOA1, RNF168, NR5A1, IKBKG, ZAP70, PSEN1, ATM, STAT1, MMP2, ATP7A, RORC, RAB27A, PPARG, NOD2, FOXP3, PTPN11, PIK3CD, PRKAR1A, AKT1, CTNNB1, MSH2, CXCR4, B2M, PLCG2, PTPRC, RUNX1, IFNG, PRF1, PCNA, NBN, CDK4, HRAS, EGFR, MLH1, ESR1, MITF, XRCC4, IRF6, MAF, STAT3, BTK, TYK2, NOTCH1, KIT, MTOR, PIK3R1

BRANCHIOOCULOFACIAL SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C2 DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MULTIPLE ENDOCRINE NEOPLASIA IIB, WAARDENBURG SYNDROME, TYPE 4A, GLUCOCORTICOID RESISTANCE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, KABUKI SYNDROME 2, BLEEDING DISORDER, PLATELET-TYPE, 17, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OPITZ GBBB SYNDROME, TYPE I, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, LOEYS-DIETZ SYNDROME 3, MULTIPLE ENDOCRINE NEOPLASIA IIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, LIMB-MAMMARY SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BRACHYDACTYLY, TYPE A1, D, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, STIFF SKIN SYNDROME, PAPILLORENAL SYNDROME, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, WEAVER SYNDROME, NOONAN SYNDROME 4, {MELANOMA, CUTANEOUS MALIGNANT, 3}, COFFIN-SIRIS SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, WIEDEMANN-STEINER SYNDROME, ESTROGEN RESISTANCE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CORNELIA DE LANGE SYNDROME 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, WAARDENBURG SYNDROME, TYPE 3, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, VAN MALDERGEM SYNDROME 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BRACHYDACTYLY, TYPE B2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GELEOPHYSIC DYSPLASIA 2, HAY-WELLS SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, ACROMICRIC DYSPLASIA, ADULT SYNDROME, NOONAN SYNDROME 7, CRANIOSYNOSTOSIS 6, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PARIETAL FORAMINA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

SOX9, MEN1, CAV1, WNT5A, TAF1, PAX8, SMARCA4, SMAD4, NR3C1, ASCL1, FAT4, AKT1, SMAD9, GLI3, PAX2, MID1, STAT1, MMP2, TBX3, BMPR1B, GDF2, PPARG, STAT3, ZIC1, BMP2, HRAS, BRCA1, CDK4, BTK, NGF, KDM6A, SOS1, VDR, ESR1, KMT2A, FOXP1, C2, NOG, GNAQ, IFNG, FBN1, RET, KITLG, GDNF, APC, ACVRL1, EDNRB, EGFR, EZH2, GFI1B, PRKACA, TGFBR2, ZEB2, SMAD3, TFAP2A, CREBBP, HSPG2, TP63, MSX2, BRAF, NOTCH1, CTNNB1, SF3B4, GATA2, PAX3

LOEYS-DIETZ SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, WEAVER SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, WIEDEMANN-STEINER SYNDROME, ADULT SYNDROME, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LIMB-MAMMARY SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PALLISTER-HALL SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, LOEYS-DIETZ SYNDROME 2, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CORNELIA DE LANGE SYNDROME 1, PARIETAL FORAMINA 1, HAY-WELLS SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

STAT1, SMAD3, EZH2, TBX3, IFNG, TP63, TGFBR2, PPARG, STAT3, GLI3, EGFR, ACVRL1, CAV1, SMAD4, SOX9, FOXP1, CTNNB1, SF3B4, KMT2A, MSX2

MULLERIAN APLASIA AND HYPERANDROGENISM, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, BRACHYDACTYLY, TYPE A1, D, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPOTRICHOSIS 6, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, OHDO SYNDROME, X-LINKED, WAARDENBURG SYNDROME, TYPE 4B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, PAPILLORENAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, WAARDENBURG SYNDROME, TYPE 4A, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, MELNICK-NEEDLES SYNDROME, TRICHODONTOOSSEOUS SYNDROME, KERATOSIS PALMOPLANTARIS STRIATA I, AD, NETHERTON SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, WAARDENBURG SYNDROME, TYPE 3, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LYSYL HYDROXYLASE 3 DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, ALBINISM, OCULOCUTANEOUS, TYPE III, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, MULTIPLE SYNOSTOSES SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, KABUKI SYNDROME 2, {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, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, GRISCELLI SYNDROME, TYPE 3, IMMUNODEFICIENCY 43, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, SADDAN, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, PEELING SKIN SYNDROME 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, INCONTINENTIA PIGMENTI, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MECKEL SYNDROME 10, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, EPIDERMOLYTIC HYPERKERATOSIS, ARTHROGRYPOSIS, DISTAL, TYPE 8, CEREBRAL CAVERNOUS MALFORMATIONS-2, RUBINSTEIN-TAYBI SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, ?GLYCOPROTEIN IA DEFICIENCY, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, LOEYS-DIETZ SYNDROME 3, PARIETAL FORAMINA 2, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, ALAGILLE SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE ENDOCRINE NEOPLASIA IIA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, VOHWINKEL SYNDROME WITH ICHTHYOSIS, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, TIETZ ALBINISM-DEAFNESS SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, DERMATOPATHIA PIGMENTOSA RETICULARIS, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, VAN DEN ENDE-GUPTA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, BARAITSER-WINTER SYNDROME 1, HAY-WELLS SYNDROME, BRACHYDACTYLY, TYPE A1, WAARDENBURG SYNDROME, TYPE 4C, DONNAI-BARROW SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, WAARDENBURG SYNDROME, TYPE 2A, OSTEOGENESIS IMPERFECTA, TYPE I, EMBERGER SYNDROME, NON-IMMUNE HYDROPS FETALIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME, OCULOECTODERMAL SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CORNELIA DE LANGE SYNDROME 4, DIGEORGE SYNDROME, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, 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, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, XERODERMA PIGMENTOSUM, GROUP B, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), ESTROGEN RESISTANCE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, HERMANSKY-PUDLAK SYNDROME 9, NEUROFIBROMATOSIS, TYPE 2, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, 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, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACROCAPITOFEMORAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, NAIL-PATELLA SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, ICHTHYOSIS WITH CONFETTI, OPITZ-KAVEGGIA SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ANDROGEN INSENSITIVITY, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, XERODERMA PIGMENTOSUM, GROUP D, MYHRE SYNDROME, PRADER-WILLI SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ACROMICRIC DYSPLASIA, ADULT SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPHOSPHATASIA, CHILDHOOD, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MUENKE SYNDROME, BRACHYDACTYLY, TYPE B1, MARFAN LIPODYSTROPHY SYNDROME, ALBINISM, OCULOCUTANEOUS, TYPE VII, GRISCELLI SYNDROME, TYPE 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, APERT SYNDROME, PALLISTER-HALL SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, COFFIN-LOWRY SYNDROME, PARIETAL FORAMINA 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, PEELING SKIN SYNDROME 1, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, CAV1, PLOD3, WNT5A, COL1A1, ST14, RAD21, ACTB, GNAS, IKBKG, COL1A2, DDX3X, RAB27A, MYO5A, PPARG, MYH11, CDK5, OCA2, DSG1, BTK, CTNNB1, SOX10, B2M, STK11, NOG, SCARF2, SMARCA4, NFKBIA, TGM1, EFEMP2, BLOC1S6, JAG1, ERCC2, TGFBR2, MYH3, CREBBP, RBPJ, SF3B4, HOXD13, PTCH1, CSTA, NF2, ACVR1, KRAS, RUNX1, B9D2, FOXL2, EGFR, LZTR1, LOR, DSC2, NOTCH1, THRA, LMNB1, GATA2, FGFR1, TAF6, ITGA2, JAK2, MSX2, COL17A1, DSP, ITGA6, NR0B1, CCM2, JUP, EDN3, TGFBR1, TAF1, ROR2, MLH1, PCNA, RPS6KA3, TP63, TBX1, TYRP1, PAX8, GATA1, ADAM17, ALPL, CDSN, SOX9, SMAD4, DVL3, FLT4, SMAD9, GDNF, PAX2, LMX1B, KLC2, FLNA, LEP, VHL, COL4A1, BMP2, HRAS, NDN, AKT1, FZD6, VDR, FOXP1, MED12, LRP2, SOX18, IHH, GLI3, POLD1, DSG4, CDKN1C, MITF, PEX5, FGFR3, SPINK5, MAF, ACVRL1, KDM6A, DLX5, KIT, AR, SLC2A1, SMAD3, NGF, HNRNPK, PAX3, IRF6, ASCL1, NR5A1, PTRF, CXCR4, STAT1, NFKB1, STAT3, HLA-B, PLG, CERS3, MSH2, FGFR2, ALX4, C10orf11, CPOX, BDNF, FBN1, RET, ERCC3, SOX11, PTEN, EDNRB, FASLG, KRT10, WNT4, DLX3, GNRH1, KRT14, BMPR1B, HSPG2, ESR1, MLPH, HPS1, KRIT1

ADAMS-OLIVER SYNDROME 5, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ATROPHODERMA VERMICULATUM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, OCULODENTODIGITAL DYSPLASIA, KLEEFSTRA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OMODYSPLASIA 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HAILEY-HAILEY DISEASE, CRIGLER-NAJJAR SYNDROME, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NOONAN SYNDROME 9, FOCAL FACIAL DERMAL DYSPLASIA 4, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {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, LOEYS-DIETZ SYNDROME 2, TANGIER DISEASE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPERLIPOPROTEINEMIA, TYPE IB, PRADER-WILLI SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, DARIER DISEASE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ACNE INVERSA, FAMILIAL, 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 1, SJOGREN-LARSSON SYNDROME, ACROKERATOSIS VERRUCIFORMIS, PROTEUS SYNDROME, SOMATIC

UGT1A1, APOA2, APOB, APOA1, CASP8, NR3C1, PSEN1, CYP26C1, LRP1, LEP, SPTLC1, PPARG, BMP2, ALDH3A2, APOC2, NDN, AKT1, GPC6, GJA1, NR1I3, LDLR, FASLG, ATP2C1, LRP2, BDNF, GPC3, NOTCH1, EGFR, STRA6, TGFBR2, CREBBP, ATP2A2, HSPG2, ESR1, BCO1, RBP4, SOS2

ADAMS-OLIVER SYNDROME 5, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MULTIPLE ENDOCRINE NEOPLASIA IIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, C2 DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, NOONAN SYNDROME 7, CRANIOSYNOSTOSIS 6, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA IIB, ESTROGEN RESISTANCE, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, LOEYS-DIETZ SYNDROME 2, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, EPIDERMAL NEVUS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BLEEDING DISORDER, PLATELET-TYPE, 17, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

SOX9, MEN1, CTNNB1, SMAD4, KITLG, SMAD9, NOTCH1, GATA2, PPARG, ESR1, ZIC1, BMP2, AKT1, ZEB2, VDR, C2, IFNG, RET, APC, HRAS, GFI1B, TGFBR2, SMAD3, HSPG2, ACVRL1, BRAF, GDF2

PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ATROPHODERMA VERMICULATUM, HYPER-IGE RECURRENT INFECTION SYNDROME, PAPILLON-LEFEVRE SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPHEROCYTOSIS, TYPE 4, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MULTIPLE SULFATASE DEFICIENCY, MELNICK-NEEDLES SYNDROME, COCKAYNE SYNDROME, TYPE B, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CARDIOFACIOCUTANEOUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), EVEN-PLUS SYNDROME, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), LOEYS-DIETZ SYNDROME 2, HERMANSKY-PUDLAK SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PERIODONTITIS 1, JUVENILE, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FRONTOMETAPHYSEAL DYSPLASIA, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CORNELIA DE LANGE SYNDROME 5, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, ACNE INVERSA, FAMILIAL, 3, HAIM-MUNK SYNDROME, LOWE SYNDROME, IMMUNODEFICIENCY 35, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, C2 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, IMMUNODEFICIENCY 43, ANDROGEN INSENSITIVITY, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DYSKERATOSIS CONGENITA, X-LINKED, URBACH-WIETHE DISEASE, PEROXISOME BIOGENESIS DISORDER 14B, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HYPOTRICHOSIS 12, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HEIMLER SYNDROME 2, BRACHYDACTYLY, TYPE A1, UV-SENSITIVE SYNDROME 1, WAARDENBURG SYNDROME, TYPE 4C, HEIMLER SYNDROME 1, COFFIN-SIRIS SYNDROME 4, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, {PSORIASIS SUSCEPTIBILITY 1}, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, FUMARASE DEFICIENCY, TIMOTHY SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 3B, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CORNELIA DE LANGE SYNDROME 4, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, WARBURG MICRO SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, HERMANSKY-PUDLAK SYNDROME 9, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEMOPHILIA A, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, NICOLAIDES-BARAITSER SYNDROME, DARIER DISEASE, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, ?IMMUNODEFICIENCY 13, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, KOSAKI OVERGROWTH SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PHYTANIC ACID STORAGE DISEASE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, RESTRICTIVE DERMOPATHY, LETHAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, TARP SYNDROME, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ESTROGEN RESISTANCE, {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}, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, DYSAUTONOMIA, FAMILIAL, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, COWDEN SYNDROME 7, MECKEL SYNDROME 10, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, FACTOR XIIIA DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AR, HOLOPROSENCEPHALY-5, SHAHEEN SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CHEDIAK-HIGASHI SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 12, DIAMOND-BLACKFAN ANEMIA 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LOEYS-DIETZ SYNDROME 4, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, ACROKERATOSIS VERRUCIFORMIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

UROD, PEX14, EZH2, CAV1, APOB, TSC2, RAD21, PRKACA, PSEN1, TYK2, TAP1, ALPL, PPARG, LEP, CDK5, PRKAR1A, WNK1, PHYH, ALB, CDK4, WNT5A, SOX10, B2M, STK11, FH, SEC23A, B9D2, COG6, EFEMP2, BLOC1S6, WAS, PDGFRB, SMAD4, CREBBP, ECM1, OCRL, IKBKAP, RBPJ, SF3B4, PTEN, PCNA, SHOC2, TGFB2, PEX26, RUNX1, CBL, MAP2K2, EGFR, NME1, LYST, NOTCH1, GLUL, SMARCB1, LRP1, EDNRA, CHRM3, MOGS, LMNA, PEX6, IFNG, DSP, C2, JAK2, RBM10, VPS33B, AAAS, TGFBR1, SLC4A1, TRNT1, VIPAS39, STAMBP, KMT2A, SEC23B, GATA1, BANF1, ALDOA, DKC1, GJA1, SOX9, ADAR, DVL3, ZIC2, GDNF, STAT1, TGFB3, PEX11B, TBC1D20, NFKB2, TUBB, AKT1, SMARCA4, VDR, DTNBP1, RBM8A, UBE3A, FASLG, COG4, LRP2, IHH, KISS1R, PSTPIP1, HSPA9, PEX5, F13A1, ABCD3, TSC1, SNAP29, DLX5, STAT3, SUMF1, ERCC6, LCK, PEX1, AR, FLNA, RPL21, NGF, HDAC8, HNRNPK, PEX2, NR5A1, MMP2, PTPN11, PEX12, PDE4D, AP3B1, NFKB1, ESR1, F8, CACNA1C, AXIN2, TRPS1, SMARCA2, TBXA2R, CXCR4, PTPRC, PLCG2, TAP2, CTSC, FOXD3, BDNF, RAB7A, UNC119, HRAS, PEX16, HLA-C, RPS19, GNRH1, NHP2, SMAD3, ATP2A2, PEX7, TGFBR2, C10orf2, PIK3R1

LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, HEPATIC LIPASE DEFICIENCY, {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}, PYRUVATE KINASE DEFICIENCY, CHANARIN-DORFMAN SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

PLIN1, APOA2, LEP, APOB, PPARG, PNPLA2, PRKACA, LIPC, PRKACG, ABHD5, STAT3, AKT1, MTOR, PKLR

BARAITSER-WINTER SYNDROME 1, ATROPHODERMA VERMICULATUM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCONI ANEMIA, COMPLEMENTATION GROUP P, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, NIJMEGEN BREAKAGE SYNDROME, GLUCOCORTICOID RESISTANCE, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP E, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MEIER-GORLIN SYNDROME 1, SC PHOCOMELIA SYNDROME, PARIETAL FORAMINA 2, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, RUIJS-AALFS SYNDROME, WARSAW BREAKAGE SYNDROME, NEUROFIBROMATOSIS, FAMILIAL SPINAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ATAXIA-TELANGIECTASIA, {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, CEREBROOCULOFACIOSKELETAL SYNDROME 3, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, SECKEL SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MISMATCH REPAIR CANCER SYNDROME, MULIBREY NANISM, MENTAL RETARDATION, X-LINKED 102, SECKEL SYNDROME 2, FILS SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, ROTHMUND-THOMSON SYNDROME, COFFIN-SIRIS SYNDROME 3, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA 1, WAARDENBURG SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), NEUROFIBROMATOSIS, TYPE 1, UV-SENSITIVE SYNDROME 1, RIDDLE SYNDROME, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ROBERTS SYNDROME, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, NESTOR-GUILLERMO PROGERIA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, CORNELIA DE LANGE SYNDROME 4, {MELANOMA, CUTANEOUS MALIGNANT, 3}, XERODERMA PIGMENTOSUM, GROUP C, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WIEDEMANN-STEINER SYNDROME, COFFIN-SIRIS SYNDROME 1, UV-SENSITIVE SYNDROME 2, XERODERMA PIGMENTOSUM, GROUP B, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 4, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, WAARDENBURG SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, CORNELIA DE LANGE SYNDROME 2, CHILBLAIN LUPUS, ADERMATOGLYPHIA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ANDROGEN INSENSITIVITY, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, XERODERMA PIGMENTOSUM, GROUP D, WATSON SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, UV-SENSITIVE SYNDROME 3, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, OMENN SYNDROME, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, IMMUNODEFICIENCY, COMMON VARIABLE, 12, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 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, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

SMARCAD1, CUL4B, MEN1, FANCE, TREX1, XRCC4, SMARCA4, MCM9, HNRNPK, SMC3, EGFR, MUTYH, RAD21, RNF168, XPC, AR, BANF1, WRN, KIF22, MECP2, ATM, SHMT1, ERCC3, DDX3X, MLH1, BLM, RBBP8, NBN, ERCC4, TUBB, NFKB1, POLA1, ORC1, TAF6, RECQL4, MCM4, BRCA1, NR3C1, GTF2H5, ERCC8, NGF, MSH2, POLE, PAX8, KMT2A, MSH6, DDX11, TRIM37, UBE2A, ESCO2, TERT, ERCC6, RTEL1, FANCM, PAX3, EZH2, SLX4, DCLRE1C, TAF1, POLD1, AKT1, SMARCB1, SPRTN, POLG, CDK4, FANCA, ERCC2, PMS2, ACTB, NF1, SMC1A, MYH11, PCNA, ATR, LRP1, ESR1, ERCC5, MC1R, ALX4, ARID1B, BRCA2, RBPJ, UVSSA, PTEN, FANCD2

MULLERIAN APLASIA AND HYPERANDROGENISM, ATROPHODERMA VERMICULATUM, HYPER-IGE RECURRENT INFECTION SYNDROME, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SECKEL SYNDROME 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, MULTIPLE SYNOSTOSES SYNDROME 1, OGDEN SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, NEUROFIBROMATOSIS, FAMILIAL SPINAL, IMMUNODEFICIENCY 35, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, BECKWITH-WIEDEMANN SYNDROME, INCONTINENTIA PIGMENTI, HAJDU-CHENEY SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, NAXOS DISEASE, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, DOWLING-DEGOS DISEASE 1, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, CRANIOSYNOSTOSIS 3, PRADER-WILLI SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, HAY-WELLS SYNDROME, HEIMLER SYNDROME 2, BRACHYDACTYLY, TYPE A1, WAARDENBURG SYNDROME, TYPE 4C, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, KLEEFSTRA SYNDROME, IMMUNODEFICIENCY 38, NAIL-PATELLA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MUENKE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FRONTONASAL DYSPLASIA 2, TUBEROUS SCLEROSIS-1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MENKES DISEASE, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, LATERAL MENINGOCELE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, NOONAN SYNDROME 7, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, XERODERMA PIGMENTOSUM, GROUP B, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, DONNAI-BARROW SYNDROME, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MEIER-GORLIN SYNDROME 1, OHDO SYNDROME, X-LINKED, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, KABUKI SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, NEUROFIBROMATOSIS, TYPE 1, PEELING SKIN SYNDROME 4, 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, 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, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, OCCIPITAL HORN SYNDROME, COFFIN-SIRIS SYNDROME 3, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, JOHANSON-BLIZZARD SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, EVEN-PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, NOONAN SYNDROME 10, ALAGILLE SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ESTROGEN RESISTANCE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, BRANCHIOOCULOFACIAL SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, PITYRIASIS RUBRA PILARIS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, FUHRMANN SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, NEUROCUTANEOUS MELANOSIS, SOMATIC, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, LEOPARD SYNDROME 1, XERODERMA PIGMENTOSUM, GROUP D, LOEYS-DIETZ SYNDROME 4, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, WAARDENBURG SYNDROME, TYPE 4A, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, PARIETAL FORAMINA 2, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, IMMUNODEFICIENCY 43, PCWH SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, DIGEORGE SYNDROME, COLD-INDUCED SWEATING SYNDROME 2, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, MECKEL SYNDROME 10, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PHELAN-MCDERMID SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, TEMPLE-BARAITSER SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ACROCAPITOFEMORAL DYSPLASIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, LIMB-MAMMARY SYNDROME, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, BRACHYDACTYLY, TYPE A1, D, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, AL-RAQAD SYNDROME, CORNELIA DE LANGE SYNDROME 3, MULTIPLE ENDOCRINE NEOPLASIA IIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOTONIC DYSTROPHY 2, TANGIER DISEASE, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, CORNELIA DE LANGE SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, KOSAKI OVERGROWTH SYNDROME, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, BRACHYDACTYLY, TYPE B2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46XY SEX REVERSAL 6, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MUIR-TORRE SYNDROME, WATSON SYNDROME, ERYTHROCYTOSIS, FAMILIAL, 2, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, PALLISTER-HALL SYNDROME, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, APERT SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, BRACHYDACTYLY, TYPE B1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, LYMPHEDEMA, HEREDITARY, ID, FRASER SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HEPATIC LIPASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, GLUCOCORTICOID RESISTANCE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, PSORIASIS 2, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOHYPOPARATHYROIDISM IA, DIAPHANOSPONDYLODYSOSTOSIS, ACNE INVERSA, FAMILIAL, 3, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, 3MC SYNDROME 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CEREBRAL CAVERNOUS MALFORMATIONS-2, RUBINSTEIN-TAYBI SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ADAMS-OLIVER SYNDROME 3, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MULTIPLE ENDOCRINE NEOPLASIA 1, WAARDENBURG SYNDROME, TYPE 3, WAARDENBURG SYNDROME, TYPE 2A, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CORNELIA DE LANGE SYNDROME 4, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, 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), {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COLD-INDUCED SWEATING SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, ANDROGEN INSENSITIVITY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HEMOCHROMATOSIS, TYPE 4, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CRANIOSYNOSTOSIS 6, TIETZ ALBINISM-DEAFNESS SYNDROME, OMENN SYNDROME, WISKOTT-ALDRICH SYNDROME, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, KABUKI SYNDROME 1, 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