SKIN NAILS AND HAIR

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, LOEYS-DIETZ SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, DU PAN SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, OSTEOGENESIS IMPERFECTA, TYPE II, GELEOPHYSIC DYSPLASIA 2, EHLERS-DANLOS SYNDROME, TYPE 3, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, DIAPHANOSPONDYLODYSOSTOSIS, ALAGILLE SYNDROME, DENTAL ANOMALIES AND SHORT STATURE, ACROMICRIC DYSPLASIA, CUTIS LAXA, AD, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 2, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BRACHYDACTYLY, TYPE A1, D, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, BLEEDING DISORDER, PLATELET-TYPE, 17

GDF5, ITGB3, FBLN5, ELN, LTBP3, NOTCH1, TGFB3, TGFB2, BMP2, LEMD3, LTBP2, COL1A2, FBN2, EGFR, FBN1, COL1A1, TGFBR1, LTBP4, EFEMP2, BMPER, JAG1, GFI1B, TGFBR2, SMAD4, BMPR1B, ACVR1, CDKN1C

STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, LOEYS-DIETZ SYNDROME 1, ATROPHODERMA VERMICULATUM, BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OMODYSPLASIA 1, NOONAN SYNDROME 4, OCULODENTODIGITAL DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, PREMATURE OVARIAN FAILURE 7, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NOONAN SYNDROME 7, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, CARASIL SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, LEOPARD SYNDROME 3, TANGIER DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HYPERLIPOPROTEINEMIA, TYPE IB, ACNE INVERSA, FAMILIAL, 3, INCONTINENTIA PIGMENTI, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, DARIER DISEASE, OSSEOUS HETEROPLASIA, PROGRESSIVE, LOEYS-DIETZ SYNDROME 2, PSEUDOHYPOPARATHYROIDISM IA, ACROKERATOSIS VERRUCIFORMIS, PSEUDOPSEUDOHYPOPARATHYROIDISM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, BRACHYDACTYLY, TYPE A1, D, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

APOB, GPC3, CAV1, CTNNB1, APOA1, NR3C1, ACTB, NR5A1, IKBKG, GNAS, PSEN1, STAT1, APOA2, LRP1, LEP, SPTLC1, TUBB, BMP2, APOC2, ATP2A2, AKT1, GPC6, GJA1, GNAQ, LDLR, LRP2, CLASP1, TGFBR1, SOS1, OCLN, EGFR, STRA6, TGFBR2, HTRA1, CREBBP, BMPR1B, HSPG2, STAT3, BRAF, BCO1, RBP4

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, TRICHOMEGALY, IMMUNODEFICIENCY 43, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, 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, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, EPIDERMAL NEVUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGFR2, LCK, NCF1, PLEC, RASA1, ITGB3, FGF23, KL, GJA1, RUNX1, CBL, MAP2K2, LAMTOR2, PAX3, NOTCH1, ACTB, UBE2A, NGF, SMARCE1, IGF2, AKT1, NTRK1, VWF, PAX2, RPS6KA3, TNFAIP3, F2, WNT5A, NFKB2, FGFR1, FGF5, KITLG, PCNA, LEP, PTPN11, PIK3CD, MTOR, ITGA2B, SHOC2, CTNNB1, ESR1, B2M, PSMB8, CDKN2A, FGF20, IL2RA, SPRED1, RAB7A, PRKCD, PDGFRA, IL2RG, BDNF, FGF3, HNRNPK, EZH2, PIK3CA, SOS1, HRAS, EGFR, KRAS, EFNB1, PDGFRB, FGFR3, SMAD4, NRAS, HSPG2, KIT, STAT3, SOS2, BRAF, JAK2, SF3B4, NF1, PIK3R1

ADAMS-OLIVER SYNDROME 5, PAPILLORENAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, CLOVE SYNDROME, SOMATIC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, KOSAKI OVERGROWTH SYNDROME, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, SHORT SYNDROME, HYPOCHONDROPLASIA, TOOTH AGENESIS, SELECTIVE, 4, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NOONAN SYNDROME 9, ADULT SYNDROME, COFFIN-SIRIS SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, RABSON-MENDENHALL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MUENKE SYNDROME, LIMB-MAMMARY SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ODONTOONYCHODERMAL DYSPLASIA, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, LEOPARD SYNDROME 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TRICHOMEGALY, ?IMMUNODEFICIENCY 22, HAY-WELLS SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, TRIGONOCEPHALY 1, SADDAN, COFFIN-LOWRY SYNDROME, SCHOPF-SCHULZ-PASSARGE SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

LCK, TSC2, FGF23, KL, NOTCH1, AKT3, FAS, PIK3CA, PAX2, LEP, MTOR, FGFR1, FGF5, KITLG, INSR, PTPN11, PIK3CD, AKT1, ESR1, FGFR2, SMARCE1, WNT10A, FGF20, FGF3, PDGFRA, BDNF, GDNF, SOS1, HRAS, EGFR, PDGFRB, FGFR3, RPS6KA3, TP63, SOS2, KIT, PTEN, PIK3R1

BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, IMMUNODEFICIENCY 43, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CRANIOLENTICULOSUTURAL DYSPLASIA, {PSORIASIS SUSCEPTIBILITY 1}

HLA-C, B2M, TAP2, TAP1, HLA-B, SEC23A, TAPBP

BARAITSER-WINTER SYNDROME 1, ATROPHODERMA VERMICULATUM, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SULFATASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AMISH INFANTILE EPILEPSY SYNDROME, CHIME SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WERNER SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, POROKERATOSIS 7, MULTIPLE TYPES, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, PETERS-PLUS SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, IMMUNODEFICIENCY 43, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, NESTOR-GUILLERMO PROGERIA SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, BOHRING-OPITZ SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ICHTHYOSIS, X-LINKED, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, IMMUNODEFICIENCY, COMMON VARIABLE, 10, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, FRONTOMETAPHYSEAL DYSPLASIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, STIFF SKIN SYNDROME, PRADER-WILLI SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, EPIDERMAL NEVUS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IA, WAARDENBURG SYNDROME, TYPE 4C, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, {PSORIASIS SUSCEPTIBILITY 1}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, KAHRIZI SYNDROME, WEAVER SYNDROME, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, XERODERMA PIGMENTOSUM, GROUP C, OSTEOGENESIS IMPERFECTA, TYPE II, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ALAGILLE SYNDROME, WIEDEMANN-STEINER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOPHILIA A, IMMUNODEFICIENCY 23, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CORNELIA DE LANGE SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, VON WILLEBRAND DISEASE, TYPE 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SIALIC ACID STORAGE DISORDER, INFANTILE, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), GELEOPHYSIC DYSPLASIA 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, LATERAL MENINGOCELE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, MYHRE SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ACROMICRIC DYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, MARFAN LIPODYSTROPHY SYNDROME, GELEOPHYSIC DYSPLASIA 1, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, AU-KLINE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

EZH2, CAV1, PIGV, PROS1, COL1A1, RAD21, GP1BA, GNAS, COL1A2, TAP1, DDX3X, B3GLCT, PMM2, MGAT2, ALG3, ASXL1, APOB, BTK, B2M, SLC17A5, ARSE, CDKN2A, ARSB, SEC23A, ST3GAL5, HSPA9, GFI1B, MVD, IKBKAP, RBPJ, DOLK, ACTB, KRAS, PROC, DPH1, WRN, PIGT, NOTCH1, LRP1, MTOR, PLOD3, MOGS, ALG11, IFNG, CBL, THSD1, ADAMTS10, AAAS, F2, ADAMTS2, NOTCH3, STS, ADAMTSL2, SMC3, ADAMTS18, MAN1B1, BANF1, ADAM17, GLB1, CTNNB1, SMAD4, VWF, GALNT3, STAT1, NFKB2, COL4A1, BMP2, BRCA1, NDN, AKT1, MMP2, UBE3A, EGFR, PGM3, ADAMTS13, SMC1A, PIGO, RPS19, GNE, XRCC4, XPC, SOX10, ITGA6, STAT3, SUMF1, PIGA, FLNA, NGF, PRKCD, PIGC, HNRNPK, DPM1, PIGL, JAG1, GMPPA, EXT2, F8, SOS1, BLM, SRD5A3, NEU1, MSX1, FBN1, DPAGT1, GALNT14, HRAS, HLA-C, MPDU1, GNRH1, RNF168, HSPG2, ESR1, DHFR, PIGN, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, BASAL CELL NEVUS SYNDROME, ATROPHODERMA VERMICULATUM, REVESZ SYNDROME, BARAITSER-WINTER SYNDROME 1, TANGIER DISEASE, BRACHYDACTYLY, TYPE A1, D, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, NICOLAIDES-BARAITSER SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, ADAMS-OLIVER SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, PAPILLORENAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MULTIPLE SULFATASE DEFICIENCY, MELNICK-NEEDLES SYNDROME, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA PRURIGINOSA, WEAVER SYNDROME, EPISODIC PAIN SYNDROME, FAMILIAL, 3, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, 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}, SADDAN, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PARIETAL FORAMINA 2, ACNE INVERSA, FAMILIAL, 2, LEOPARD SYNDROME 3, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOPHOSPHATASIA, INFANTILE, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTIPLE SYNOSTOSES SYNDROME 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, STORMORKEN SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, HYPOPHOSPHATASIA, CHILDHOOD, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, PSEUDOPSEUDOHYPOPARATHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, TRICHOMEGALY, IMMUNODEFICIENCY 43, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, VON WILLEBRAND DISEASE, TYPE 1, PCWH SYNDROME, NEUROFIBROMATOSIS, FAMILIAL SPINAL, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, TOENAIL DYSTROPHY, ISOLATED, HEMOCHROMATOSIS, TYPE 2A, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, PAROXYSMAL EXTREME PAIN DISORDER, ACNE INVERSA, FAMILIAL, 3, FUHRMANN SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 3, ISCHIOCOXOPODOPATELLAR SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RETICULATE ACROPIGMENTATION OF KITAMURA, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OCULOECTODERMAL SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ANDROGEN INSENSITIVITY, ?GLYCOPROTEIN IA DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PYRUVATE KINASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LOEYS-DIETZ SYNDROME 3, PHELAN-MCDERMID SYNDROME, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, FRONTOMETAPHYSEAL DYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, EPISODIC PAIN SYNDROME, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, ACROCAPITOFEMORAL DYSPLASIA, MYHRE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2A, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, ?IMMUNODEFICIENCY 13, OSSEOUS HETEROPLASIA, PROGRESSIVE, ?RENAL HYPODYSPLASIA/APLASIA 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, EPIDERMAL NEVUS, LEOPARD SYNDROME 1, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, BRACHYDACTYLY, TYPE A1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, WAARDENBURG SYNDROME, TYPE 2A, OSTEOGENESIS IMPERFECTA, TYPE I, EMBERGER SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OSTEOGLOPHONIC DYSPLASIA, CORNELIA DE LANGE SYNDROME 2, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, KNOBLOCH SYNDROME 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 8, ATAXIA-TELANGIECTASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ACNE INVERSA, FAMILIAL, 1, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, MYOTONIC DYSTROPHY 2, ALAGILLE SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WIEDEMANN-STEINER SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, NOONAN SYNDROME 4, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MUENKE SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, IMMUNODEFICIENCY 10, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, WAARDENBURG SYNDROME, TYPE 1, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, ABLEPHARON-MACROSTOMIA SYNDROME, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, SECKEL SYNDROME 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SINGLETON-MERTEN SYNDROME 2, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, FRONTONASAL DYSPLASIA 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WAARDENBURG SYNDROME, TYPE 3, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, CORNELIA DE LANGE SYNDROME 1, HYPOCHONDROPLASIA, BLEEDING DISORDER, PLATELET-TYPE, 17, NEUROFIBROMATOSIS, TYPE 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, NAIL-PATELLA SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, RENPENNING SYNDROME, BARBER-SAY SYNDROME, OPITZ-KAVEGGIA SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, CEREBELLOFACIODENTAL SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, KOSAKI OVERGROWTH SYNDROME, BRACHYDACTYLY, TYPE B2, {MELANOMA, CUTANEOUS MALIGNANT, 3}, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, POROKERATOSIS 1, MULTIPLE TYPES, ERYTHROCYTOSIS, FAMILIAL, 2, HAJDU-CHENEY SYNDROME, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, LYMPHEDEMA, HEREDITARY, ID, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, FACTOR XIIIA DEFICIENCY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE XVII, CRANIOSYNOSTOSIS 3, ACROMICRIC DYSPLASIA, NOONAN SYNDROME 7, 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, DIGEORGE SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, EHLERS-DANLOS SYNDROME, TYPE IV, TIETZ ALBINISM-DEAFNESS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, TUMOR PREDISPOSITION SYNDROME, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, MARFAN LIPODYSTROPHY SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, OHDO SYNDROME, X-LINKED, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, XERODERMA PIGMENTOSUM, GROUP B, HOLOPROSENCEPHALY-5, NEUROFIBROMATOSIS, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PALLISTER-HALL SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, XERODERMA PIGMENTOSUM, GROUP D, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SMITH-KINGSMORE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, WISKOTT-ALDRICH SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TCF12, PDE4D, GFI1B, EZH2, CAV1, NF2, PLOD3, KMT2A, COL1A1, MTOR, LAMTOR2, CNBP, PRKACA, ACTB, GNAS, CIITA, COL3A1, F2, FLT4, PPARG, CDK5, PRKAR1A, SCN10A, ITGA2B, GJA1, SOX10, B2M, PLG, CDKN2A, FGF20, FGF3, RAB7A, PNPLA2, MED13L, SMARCA4, NFKBIA, PIK3CA, MMP2, NOTCH1, BMPER, WAS, TGFBR2, PDGFRB, HOXD13, MYH3, PRKACG, IL2RG, RBPJ, SF3B4, PTEN, HTRA1, PTCH1, WNT7A, RASA1, GRIP1, ACVR1, PLEC, RUNX1, HLA-DQA1, MAP2K2, EGFR, CREBBP, NME1, NOTCH2, SMARCE1, IGF2, VWF, PKLR, ERCC3, LRP1, COL6A1, GDNF, CBS, GATA2, FGFR1, ERCC2, COL7A1, LEP, PSEN1, ITGA2, SPRED1, MECOM, COL17A1, CBL, NCSTN, ITGA6, DLL4, JAK2, SPARC, ZIC3, TGFBR1, TAF1, ERCC5, BAP1, TNFRSF1A, ALPL, RBP4, FGF23, PCNA, RPS6KA3, FGF5, TBX1, PSENEN, NFKB2, PAX8, PLIN1, NCF1, STIM1, UNC119, ITGB3, VHL, CTNNB1, IL2RA, SHOC2, ZAP70, SMAD4, COL5A1, F13A1, ZIC2, SMAD9, VEGFC, PAX2, LMX1B, STAT1, APOA2, PCK1, SOX9, PQBP1, COL4A1, BMP2, EDNRB, BRCA1, HFE2, AKT1, KRAS, VDR, WNT5A, ASCL1, DTNBP1, COL18A1, APOA1, MED12, LRP2, FBN1, SMARCA2, USP9X, TWIST2, IHH, GLI3, SMC1A, COL6A2, JAG1, TINF2, PSMB8, MITF, EFNB1, ATR, NF1, FGFR3, HAMP, BRAF, SHANK3, BTK, DLX5, COL6A3, KIT, STAT3, CYP7B1, SUMF1, AGPAT2, LCK, NRAS, AR, FLNA, SMAD3, NGF, PRKCD, HNRNPK, PAX3, NR3C1, COL5A2, DHCR7, PRNP, NTRK1, NR5A1, PTPN11, ATM, SOS2, TNFAIP3, DDX58, BRF1, ITGB4, TBX4, NFKB1, TSC1, KITLG, CACNA1C, NOG, INSR, MED25, AKT3, SCN9A, SOS1, PMVK, MSH2, CXCR4, FGFR2, PTPRC, PLCG2, ALX4, UBE2A, FOXD3, SCN11A, PDGFRA, BDNF, CLASP1, RET, HRAS, COL1A2, FASLG, CDK4, GNRH1, OCLN, MYH11, ADAM10, BMPR1B, HSPG2, ESR1, ATIC, KL, MMP1, ERCC4, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, TOENAIL DYSTROPHY, ISOLATED, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, KNOBLOCH SYNDROME 1, VON WILLEBRAND DISEASE, TYPE 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, VON WILLIBRAND DISEASE, TYPE 3, MARFAN LIPODYSTROPHY SYNDROME, GELEOPHYSIC DYSPLASIA 2, ?GLYCOPROTEIN IA DEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE 3, GLANZMANN THROMBASTHENIA, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ACROMICRIC DYSPLASIA, FUHRMANN SYNDROME, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, 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, STIFF SKIN SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, ATROPHODERMA VERMICULATUM, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, BLEEDING DISORDER, PLATELET-TYPE, 17, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1

WNT7A, F2, APOB, COL1A1, COL5A1, COL6A2, VWF, COL1A2, ITGB3, LRP1, COL6A1, COL4A1, COL5A2, ITGA2, ITGA2B, MMP2, ITGA6, COL3A1, ITGA3, FBN1, COL18A1, FASLG, GFI1B, HSPG2, DLX5, COL6A3, COL7A1

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, LOEYS-DIETZ SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, DU PAN SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, OSTEOGENESIS IMPERFECTA, TYPE II, GELEOPHYSIC DYSPLASIA 2, LYMPHEDEMA, HEREDITARY, IA, EHLERS-DANLOS SYNDROME, TYPE 3, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, DIAPHANOSPONDYLODYSOSTOSIS, ALAGILLE SYNDROME, DENTAL ANOMALIES AND SHORT STATURE, ACROMICRIC DYSPLASIA, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 2, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BRACHYDACTYLY, TYPE A1, D, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, BLEEDING DISORDER, PLATELET-TYPE, 17

GDF5, ITGB3, FBLN5, ELN, LTBP3, FLT4, NOTCH1, TGFB3, TGFB2, BMP2, LEMD3, LTBP2, COL1A2, FBN2, NR0B1, CDKN1C, FBN1, COL1A1, TGFBR1, LTBP4, EGFR, BMPER, JAG1, GFI1B, TGFBR2, SMAD4, BMPR1B, ACVR1, EFEMP2

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, PEUTZ-JEGHERS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, MUENKE SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, WAARDENBURG SYNDROME, TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, EPIDERMAL NEVUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, NEUROFIBROMATOSIS, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

PCNA, LCK, NCF1, RASA1, ACTB, ITGB3, FGFR1, KL, GJA1, RUNX1, TSC2, MAP2K2, LAMTOR2, SMAD4, PTEN, PRKACA, PLEC, UBE2A, NGF, SMARCE1, IGF2, AKT1, NTRK1, VWF, PAX2, RPS6KA3, TNFAIP3, F2, LEP, SKIV2L, PPARG, STAT3, KITLG, INSR, FOXP3, HRAS, HNRNPK, MTOR, ITGA2B, SHOC2, JAK2, ESR1, FGFR2, STK11, FGF23, CDKN2A, CBL, IL2RA, SPRED1, PRKCD, NF1, PDGFRA, KIT, BDNF, FGF3, RAB7A, EZH2, PIK3CA, NOTCH1, SOS1, FGF20, EGFR, PSMB8, KRAS, EFNB1, PDGFRB, FGFR3, PAX3, NRAS, HSPG2, TSC1, SOS2, BRAF, PTPN11, IL2RG, FGF5, SF3B4, NFKB2, PIK3R1

SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, NEUROCUTANEOUS MELANOSIS, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMAL NEVUS, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CBL, KRAS, EGFR, NRAS, PIK3R1, SOS1, PIK3CA, HRAS

SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, NEUROCUTANEOUS MELANOSIS, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMAL NEVUS, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CBL, KRAS, EGFR, NRAS, PIK3R1, SOS1, PIK3CA, HRAS

SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, NEUROCUTANEOUS MELANOSIS, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMAL NEVUS, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CBL, KRAS, EGFR, NRAS, PIK3R1, SOS1, PIK3CA, HRAS

LOEYS-DIETZ SYNDROME 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 38, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLUCOCORTICOID RESISTANCE, CLOVE SYNDROME, SOMATIC, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, WISKOTT-ALDRICH SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 43, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

LCK, CBL, ISG15, IKBKG, PTPN11, NFKB1, WAS, INSR, AKT1, B2M, PTPRC, CD3G, NFKBIA, HLA-DQB1, PCNA, TGFBR1, PIK3CA, TNFRSF1A, EGFR, PTEN, ZAP70, NR3C1, ESR1, HLA-DQA1, PIK3R1

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, LOEYS-DIETZ SYNDROME 3, NAXOS DISEASE, NOONAN SYNDROME 9, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, 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, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NON-IMMUNE HYDROPS FETALIS, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OCULOECTODERMAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MUENKE SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, EPIDERMAL NEVUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CLOVE SYNDROME, SOMATIC, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, NEUROFIBROMATOSIS, TYPE 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, FACTOR XIIIA DEFICIENCY, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CAV1, KITLG, ACTB, F2, CDK5, ITGA2B, GJA1, CDKN2A, FGF3, RAB7A, PIK3CA, PDGFRB, PRKACG, IL2RG, CTNNB1, SF3B4, NF1, SHOC2, RASA1, FGFR3, PLEC, RUNX1, MAP2K2, SMARCE1, IGF2, NOTCH1, MTOR, FGFR1, LEP, JAK2, CBL, PSMB8, SPRED1, JUP, NCF2, GDNF, KRAS, FGF23, PCNA, RPS6KA3, FGF5, BRAF, SOS2, NCF1, ITGB3, UBE2A, IL2RA, SMAD4, VWF, PAX2, STAT1, NFKB2, HRAS, AKT1, KL, ITPR2, CYBB, DDX58, EZH2, EFNB1, PTEN, F13A1, TSC1, DLX5, KIT, STAT3, LCK, NRAS, NGF, PRKCD, HNRNPK, PAX3, NTRK1, PTPN11, TNFAIP3, NFKB1, NEB, PRKACA, INSR, AKT3, SOS1, FGFR2, CYBA, PDGFRA, LAMTOR2, BDNF, APC, FGF20, EGFR, SMAD3, NR3C1, HSPG2, ESR1, PIK3R1

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, 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}, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, 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, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, EPIDERMAL NEVUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGFR2, LCK, NCF1, RASA1, ACTB, ITGB3, FGF23, KL, GJA1, RUNX1, NRAS, MAP2K2, LAMTOR2, SMAD4, NOTCH1, PLEC, UBE2A, SMARCE1, IGF2, AKT1, NTRK1, VWF, GHR, RPS6KA3, TNFAIP3, ITGA2B, F2, LEP, NFKB2, FGFR1, FGF5, KITLG, PCNA, INSR, PAX2, MTOR, SOS1, SHOC2, JAK2, ESR1, CBL, PSMB8, CDKN2A, FGF20, IL2RA, SPRED1, RAB7A, PRKCD, PDGFRA, KIT, BDNF, PAX3, HNRNPK, EZH2, PIK3CA, PTPN11, HRAS, EGFR, KRAS, FGF3, EFNB1, PDGFRB, FGFR3, PNPLA2, NGF, HSPG2, STAT3, SOS2, BRAF, IL2RG, SF3B4, NF1, PIK3R1

LYSYL HYDROXYLASE 3 DEFICIENCY, ATROPHODERMA VERMICULATUM, REVESZ SYNDROME, EVEN-PLUS SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SULFATASE DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HERMANSKY-PUDLAK SYNDROME 7, FANCONI ANEMIA, COMPLEMENTATION GROUP A, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AMISH INFANTILE EPILEPSY SYNDROME, 3-M SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GLANZMANN THROMBASTHENIA, BLEEDING DISORDER, PLATELET-TYPE, 17, WERNER SYNDROME, PETERS-PLUS SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, GRISCELLI SYNDROME, TYPE 1, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HERMANSKY-PUDLAK SYNDROME 1, LEOPARD SYNDROME 3, ALBINISM, OCULOCUTANEOUS, TYPE III, POROKERATOSIS 7, MULTIPLE TYPES, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AGAMMAGLOBULINEMIA, X-LINKED 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 43, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, WARSAW BREAKAGE SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ADULT SYNDROME, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NOONAN SYNDROME 7, INCONTINENTIA PIGMENTI, BOHRING-OPITZ SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ICHTHYOSIS, X-LINKED, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERIODIC FEVER, FAMILIAL, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ERYTHROCYTOSIS, FAMILIAL, 2, RUBINSTEIN-TAYBI SYNDROME, ANDROGEN INSENSITIVITY, HEMOCHROMATOSIS, TYPE 2B, PREMATURE OVARIAN FAILURE 7, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, 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, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FILS SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COFFIN-SIRIS SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, IMMUNODEFICIENCY 23, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, STIFF SKIN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, PRADER-WILLI SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, HARTNUP DISORDER, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, IMMUNODEFICIENCY, COMMON VARIABLE, 10, BARAITSER-WINTER SYNDROME 1, HAY-WELLS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, WAARDENBURG SYNDROME, TYPE 4C, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, WAARDENBURG SYNDROME, TYPE 2A, OSTEOGENESIS IMPERFECTA, TYPE I, CHIME SYNDROME, BJORNSTAD SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, KAHRIZI SYNDROME, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, APERT SYNDROME, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, ESTROGEN RESISTANCE, GM1-GANGLIOSIDOSIS, TYPE I, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, CORNELIA DE LANGE SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OTOPALATODIGITAL SYNDROME, TYPE I, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, XERODERMA PIGMENTOSUM, GROUP C, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ALAGILLE SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, WIEDEMANN-STEINER SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIC, XERODERMA PIGMENTOSUM, GROUP B, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, TRICHOHEPATOENTERIC SYNDROME 2, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOPHILIA A, HYPOTRICHOSIS 12, PERLMAN SYNDROME, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, POROKERATOSIS 3, MULTIPLE TYPES, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CORNELIA DE LANGE SYNDROME 2, 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, VON WILLEBRAND DISEASE, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, NESTOR-GUILLERMO PROGERIA SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, KOSAKI OVERGROWTH SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SIALIC ACID STORAGE DISORDER, INFANTILE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, SECKEL SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, RESTRICTIVE DERMOPATHY, LETHAL, GELEOPHYSIC DYSPLASIA 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LATERAL MENINGOCELE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, XERODERMA PIGMENTOSUM, GROUP D, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, ?OLMSTED SYNDROME, X-LINKED, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, HUTCHINSON-GILFORD PROGERIA, ACROMICRIC DYSPLASIA, 3MC SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, HYPOTRICHOSIS 11, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, TIETZ ALBINISM-DEAFNESS SYNDROME, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, TUMOR PREDISPOSITION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, MARFAN LIPODYSTROPHY SYNDROME, GRISCELLI SYNDROME, TYPE 2, GELEOPHYSIC DYSPLASIA 1, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, C4A DEFICIENCY, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TANGIER DISEASE, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, GFI1B, FECH, CAV1, PIGV, PLOD3, APOB, DIS3L2, COL1A1, RAD21, F8, ACTB, FAS, GNAS, IKBKG, COL1A2, TAP1, F2, RAB27A, MGAT2, MYO5A, PPARG, MOGS, CDK5, NOTCH3, ALG3, ASXL1, CDK4, PROS1, SOX10, B2M, KISS1R, SLC17A5, ARSE, CDKN2A, ARSB, RAB7A, MMP1, SEC23A, SOS1, PIGL, ST3GAL5, ERCC2, MBTPS2, RNF168, PDGFRB, CREBBP, MVD, IKBKAP, CUL7, SF3B4, SERPING1, SMARCB1, DOLK, SHOC2, GP1BA, ECHS1, KRAS, RUNX1, PROC, CIITA, EGFR, LZTR1, XPC, AR, WRN, ZAP70, NOTCH1, PARN, ERCC3, LRP1, PIGT, SMAD9, SKIV2L, EDNRA, TAF6, LMNA, ALG11, ABCA1, ADAMTS10, ESR1, CBL, DDX11, SPINT2, THSD1, JAK2, C4A, STAT1, AAAS, SLC6A19, MEN1, GALNT3, RBPJ, FKBP14, ADAMTS2, EZH2, B3GLCT, TSHR, IFNG, SART3, FGF23, PCNA, RPS6KA3, ADAMTSL2, AXIN2, PTPRC, SMC3, TYRP1, PMM2, MAN1B1, BANF1, TGFBR1, DDX3X, GJA1, CTNNB1, SMAD4, COL4A1, SDHD, MITF, VWF, CBS, INSR, MC2R, MMP2, LEP, NFKB2, VHL, BCS1L, ACVR1, BMP2, TNFRSF1A, BRCA1, NDN, AKT1, SMARCA4, VDR, COQ2, DTNBP1, LHB, UBE3A, HLA-C, PGM3, ADAMTS13, PRKCD, SMC1A, JAG1, PIGO, FANCA, HSPA9, GNE, PTEN, XRCC4, HAMP, STS, BTK, ITGA6, STAT3, SUMF1, LCK, SERPINC1, DPM1, FLNA, RPL21, SMAD3, NGF, MASP1, PIGC, HNRNPK, ATR, PIGA, DPH1, NR5A1, IGF2, PTPN11, ATM, GMPPA, PIGN, AP3B1, SPTLC1, NFKB1, TP63, KITLG, GLB1, PLG, POLE, BLM, SNRPE, FGFR2, BRAF, SRD5A3, NEU1, MSX1, FSHB, FBN1, DPAGT1, GALNT14, APC, DHFR, HRAS, FASLG, RPS19, MPDU1, GNRH1, EPOR, MYH11, NR3C1, ADAM17, HSPG2, EXT2, ADAMTS18, ITGB3, BAP1, TINF2, HFE, MTOR, PIK3R1

BEARE-STEVENSON CUTIS GYRATA SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, SHORT SYNDROME, HYPOCHONDROPLASIA, IMMUNODEFICIENCY 14, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, CLOVE SYNDROME, SOMATIC, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, TRIGONOCEPHALY 1, ESTROGEN RESISTANCE, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MUENKE SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, WAARDENBURG SYNDROME, TYPE 1, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, EPIDERMAL NEVUS, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, WAARDENBURG SYNDROME, TYPE 3, SADDAN, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

NRAS, FGFR3, KRAS, PAX3, STAT1, FGFR1, STAT3, LEP, HRAS, PIK3CD, AKT1, NGF, FGFR2, PIK3CA, SOS1, FGF20, FGF23, SMAD4, ESR1, FGF5, CTNNB1, PIK3R1

OSTEOGENESIS IMPERFECTA, TYPE I, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, ?GLYCOPROTEIN IA DEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, EPIDERMOLYSIS BULLOSA, PRETIBIAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EHLERS-DANLOS SYNDROME, TYPE 3, EPIDERMOLYSIS BULLOSA PRURIGINOSA, TOENAIL DYSTROPHY, ISOLATED, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, GLANZMANN THROMBASTHENIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1

COL17A1, EGFR, ITGA2, ITGB3, COL6A1, COL3A1, COL5A1, COL7A1, COL1A2, ITGA6, COL1A1, ITGB4, COL5A2

BARAITSER-WINTER SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, 3-M SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, GIANT AXONAL NEUROPATHY-1, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, IMMUNODEFICIENCY 38, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, CRANIOLENTICULOSUTURAL DYSPLASIA, CORNELIA DE LANGE SYNDROME 4, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ERYTHROCYTOSIS, FAMILIAL, 2, 46XY SEX REVERSAL 6, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULIBREY NANISM, MYHRE SYNDROME, NOONAN SYNDROME 10, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ADULT SYNDROME, ANGELMAN SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ROTHMUND-THOMSON SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ESTROGEN RESISTANCE, KAUFMAN OCULOCEREBROFACIAL SYNDROME, LIMB-MAMMARY SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, TUBEROUS SCLEROSIS 2, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, SINGLETON-MERTEN SYNDROME 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RABSON-MENDENHALL SYNDROME, JOHANSON-BLIZZARD SYNDROME, IMMUNODEFICIENCY 43, HAY-WELLS SYNDROME, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

NCF1, SEC23A, CYBA, CYBB, PRKCD, EGFR, ADAR, RAD21, SMAD4, ISG15, UBE2A, FAS, CIITA, UBR1, TAP1, UBE3B, VHL, KIF1B, MAP3K1, INSR, HLA-B, PTPN11, BRCA1, GAN, RECQL4, IFNG, TAPBP, ESR1, B2M, PSMB8, TAP2, DDX58, TRIM37, JAK2, UBE3A, STAT1, PNPLA2, NCF2, AKT1, HLA-C, ACTB, LZTR1, TP63, RBCK1, ITGA6, LDLR, CUL7

SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, NEUROCUTANEOUS MELANOSIS, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMAL NEVUS, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CBL, KRAS, EGFR, NRAS, PIK3R1, SOS1, PIK3CA, HRAS

BARAITSER-WINTER SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ADERMATOGLYPHIA, GLYCOGEN STORAGE DISEASE XI, WEAVER SYNDROME, OPITZ-KAVEGGIA SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, KLEEFSTRA SYNDROME, BECKWITH-WIEDEMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ANDROGEN INSENSITIVITY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SHORT SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, {MELANOMA, CUTANEOUS MALIGNANT, 3}, ERYTHROCYTOSIS, FAMILIAL, 2, OTOPALATODIGITAL SYNDROME, TYPE I, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, COFFIN-SIRIS SYNDROME 4, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, SOTOS SYNDROME 1, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, WIEDEMANN-STEINER SYNDROME, COFFIN-SIRIS SYNDROME 2, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, MEIER-GORLIN SYNDROME 1, COFFIN-SIRIS SYNDROME 3, ESTROGEN RESISTANCE, DYSAUTONOMIA, FAMILIAL, KOOLEN-DE VRIES SYNDROME, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, FLOATING-HARBOR SYNDROME, NICOLAIDES-BARAITSER SYNDROME, AU-KLINE SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CORNELIA DE LANGE SYNDROME 5, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, KABUKI SYNDROME 2, OGDEN SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CORNELIA DE LANGE SYNDROME 1, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, RUBINSTEIN-TAYBI SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, WAARDENBURG SYNDROME, TYPE 3, OHDO SYNDROME, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

GATA1, SMARCA2, BRCA2, AR, FLNA, SMARCA4, KDM6A, HDAC8, SMARCAD1, HNRNPK, SMAD4, CDK5, LDHA, SMARCE1, SRCAP, THRA, KMT2D, BLM, NSD1, VHL, CTNNB1, ORC1, TAF6, MECP2, KDM5C, PHF8, CDK4, NFKBIA, KANSL1, RUNX1, PAX8, KMT2A, CREBBP, FOXP1, KMT2C, WAS, MED12, UBE3A, PCNA, KAT6B, EZH2, ASCL1, TAF1, EHMT1, SMARCB1, GFI1B, ESR1, ACTB, PTEN, SMAD3, PAX3, ARID1A, STAT3, NAA10, MECOM, IKBKAP, ARID1B, JAK2, RBPJ, PIK3R1

ADAMS-OLIVER SYNDROME 5, DOWLING-DEGOS DISEASE 4, LATERAL MENINGOCELE SYNDROME, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, EHLERS-DANLOS SYNDROME, TYPE 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HAJDU-CHENEY SYNDROME, DOWLING-DEGOS DISEASE 2

POGLUT1, NOTCH2, NOTCH1, NOTCH3, POFUT1

ADAMS-OLIVER SYNDROME 5, PAPILLORENAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, CLOVE SYNDROME, SOMATIC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, KOSAKI OVERGROWTH SYNDROME, LEPRECHAUNISM, BANNAYAN-RILEY-RUVALCABA SYNDROME, TRIGONOCEPHALY 1, SHORT SYNDROME, HYPOCHONDROPLASIA, TOOTH AGENESIS, SELECTIVE, 4, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RABSON-MENDENHALL SYNDROME, IMMUNODEFICIENCY 14, EHLERS-DANLOS SYNDROME, TYPE 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NOONAN SYNDROME 9, ADULT SYNDROME, COFFIN-SIRIS SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, BENT BONE DYSPLASIA SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MUENKE SYNDROME, LIMB-MAMMARY SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ODONTOONYCHODERMAL DYSPLASIA, COFFIN-LOWRY SYNDROME, APERT SYNDROME, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TRICHOMEGALY, ?IMMUNODEFICIENCY 22, HAY-WELLS SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SADDAN, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SCHOPF-SCHULZ-PASSARGE SYNDROME, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

LCK, TSC2, FGF23, KL, NOTCH1, AKT3, FAS, PAX2, LEP, MTOR, FGFR1, FGF5, KITLG, INSR, PTPN11, PIK3CD, AKT1, ESR1, FGFR2, SMARCE1, WNT10A, FGF20, FGF3, PDGFRA, BDNF, PIK3CA, SOS1, HRAS, EGFR, PDGFRB, FGFR3, RPS6KA3, TP63, SOS2, KIT, PTEN, PIK3R1

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, 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, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, EPIDERMAL NEVUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGFR2, LCK, NCF1, RASA1, ACTB, ITGB3, FGF23, KL, GJA1, RUNX1, NRAS, MAP2K2, LAMTOR2, PAX3, NOTCH1, PLEC, UBE2A, SMARCE1, IGF2, NTRK1, VWF, PAX2, RPS6KA3, TNFAIP3, ITGA2B, F2, NFKB2, FGFR1, FGF5, KITLG, PCNA, LEP, PTPN11, SOS1, SHOC2, JAK2, ESR1, CBL, PSMB8, CDKN2A, FGF20, IL2RA, SPRED1, RAB7A, PRKCD, PDGFRA, KIT, BDNF, FGF3, HNRNPK, EZH2, PIK3CA, AKT1, HRAS, EGFR, KRAS, EFNB1, PDGFRB, FGFR3, SMAD4, NGF, HSPG2, STAT3, SOS2, BRAF, IL2RG, SF3B4, NF1, PIK3R1

BARAITSER-WINTER SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ADERMATOGLYPHIA, GLYCOGEN STORAGE DISEASE XI, WEAVER SYNDROME, OPITZ-KAVEGGIA SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, KLEEFSTRA SYNDROME, BECKWITH-WIEDEMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ANDROGEN INSENSITIVITY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SHORT SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, {MELANOMA, CUTANEOUS MALIGNANT, 3}, ERYTHROCYTOSIS, FAMILIAL, 2, OTOPALATODIGITAL SYNDROME, TYPE I, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, COFFIN-SIRIS SYNDROME 4, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, SOTOS SYNDROME 1, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, WIEDEMANN-STEINER SYNDROME, COFFIN-SIRIS SYNDROME 2, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, MEIER-GORLIN SYNDROME 1, COFFIN-SIRIS SYNDROME 3, ESTROGEN RESISTANCE, DYSAUTONOMIA, FAMILIAL, KOOLEN-DE VRIES SYNDROME, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, FLOATING-HARBOR SYNDROME, NICOLAIDES-BARAITSER SYNDROME, AU-KLINE SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CORNELIA DE LANGE SYNDROME 5, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, KABUKI SYNDROME 2, OGDEN SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CORNELIA DE LANGE SYNDROME 1, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, RUBINSTEIN-TAYBI SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, WAARDENBURG SYNDROME, TYPE 3, OHDO SYNDROME, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED

GATA1, SMARCA2, BRCA2, AR, FLNA, SMARCA4, KDM6A, HDAC8, SMARCAD1, HNRNPK, SMAD4, CDK5, LDHA, SMARCE1, SRCAP, THRA, KMT2D, BLM, NSD1, VHL, CTNNB1, ORC1, TAF6, MECP2, KDM5C, PHF8, CDK4, NFKBIA, KANSL1, RUNX1, PAX8, KMT2A, CREBBP, FOXP1, KMT2C, WAS, MED12, UBE3A, PCNA, KAT6B, EZH2, ASCL1, TAF1, EHMT1, SMARCB1, GFI1B, ESR1, ACTB, PTEN, SMAD3, PAX3, ARID1A, STAT3, NAA10, MECOM, IKBKAP, ARID1B, JAK2, RBPJ, PIK3R1

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, PSEUDOPSEUDOHYPOPARATHYROIDISM, TRICHOMEGALY, IMMUNODEFICIENCY 43, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, 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}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NOONAN SYNDROME 9, ANGELMAN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, EPIDERMAL NEVUS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SCHOPF-SCHULZ-PASSARGE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MUENKE SYNDROME, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, CLOVE SYNDROME, SOMATIC, RABSON-MENDENHALL SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, PSEUDOHYPOPARATHYROIDISM IA, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, NEUROFIBROMATOSIS, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TSC2, F2, KITLG, ACTB, FAS, GNAS, PRKAR1A, ITGA2B, GJA1, B2M, WNT10A, CDKN2A, FGF3, RAB7A, PIK3CA, PDGFRB, PRKACG, IL2RG, SF3B4, PTEN, SHOC2, NF2, PLEC, RUNX1, MAP2K2, PSMB8, IGF2, NOTCH1, MTOR, FGFR1, LEP, PIK3CD, JAK2, CBL, SMARCE1, SPRED1, KRAS, FGF23, PCNA, RPS6KA3, FGF5, BRAF, SOS2, NCF1, ITGB3, UBE2A, IL2RA, SMAD4, RASA1, VWF, PAX2, NFKB2, FOXP3, HRAS, AKT1, KL, ITPR2, DDX58, APOA1, UBE3A, EZH2, EFNB1, NF1, FGFR3, KIT, STAT3, LCK, NRAS, NGF, PRKCD, HNRNPK, PAX3, NTRK1, MMP2, PTPN11, TNFAIP3, NFKB1, TSC1, PRKACA, INSR, AKT3, SOS1, FGFR2, PDGFRA, LAMTOR2, BDNF, CLASP1, CTLA4, FGF20, EGFR, NR3C1, HSPG2, ESR1, PIK3R1

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, PSEUDOPSEUDOHYPOPARATHYROIDISM, TRICHOMEGALY, IMMUNODEFICIENCY 43, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, 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}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NOONAN SYNDROME 9, ANGELMAN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, EPIDERMAL NEVUS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SCHOPF-SCHULZ-PASSARGE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MUENKE SYNDROME, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, CLOVE SYNDROME, SOMATIC, RABSON-MENDENHALL SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, PSEUDOHYPOPARATHYROIDISM IA, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ERYTHROCYTOSIS, FAMILIAL, 2, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, APERT SYNDROME, NEUROFIBROMATOSIS, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TSC2, F2, KITLG, ACTB, FAS, GNAS, PRKAR1A, ITGA2B, GJA1, B2M, WNT10A, CDKN2A, FGF3, RAB7A, PIK3CA, PDGFRB, PRKACG, IL2RG, SF3B4, PTEN, PCNA, SHOC2, NF2, PLEC, RUNX1, MAP2K2, PSMB8, IGF2, NOTCH1, MTOR, FGFR1, LEP, PIK3CD, JAK2, CBL, SMARCE1, SPRED1, KRAS, FGF23, BDNF, RPS6KA3, FGF5, BRAF, SOS2, NCF1, ITGB3, UBE2A, IL2RA, SMAD4, RASA1, VWF, PAX2, NFKB2, VHL, FOXP3, HRAS, AKT1, KL, ITPR2, DDX58, APOA1, UBE3A, EZH2, EFNB1, NF1, FGFR3, KIT, STAT3, LCK, NRAS, NGF, PRKCD, HNRNPK, PAX3, NTRK1, MMP2, PTPN11, TNFAIP3, ITGB4, NFKB1, TSC1, PRKACA, INSR, AKT3, SOS1, FGFR2, PDGFRA, LAMTOR2, CLASP1, CTLA4, FGF20, EGFR, NR3C1, HSPG2, ESR1, PIK3R1

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, 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, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, EPIDERMAL NEVUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CLOVE SYNDROME, SOMATIC, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGFR2, LCK, NCF1, RASA1, ACTB, ITGB3, FGF23, KL, GJA1, RUNX1, NRAS, MAP2K2, LAMTOR2, PAX3, NOTCH1, PLEC, UBE2A, PSMB8, IGF2, F2, NTRK1, VWF, PAX2, RPS6KA3, TNFAIP3, ITGA2B, CDKN2A, LEP, NFKB2, FGFR1, FGF5, KITLG, PCNA, INSR, PTPN11, SOS1, SHOC2, JAK2, ITPR2, ESR1, CBL, SMARCE1, DDX58, FGF20, IL2RA, SPRED1, RAB7A, PRKCD, PDGFRA, KIT, BDNF, FGF3, HNRNPK, EZH2, PIK3CA, AKT1, HRAS, EGFR, KRAS, EFNB1, PDGFRB, FGFR3, SMAD4, NGF, HSPG2, STAT3, SOS2, BRAF, IL2RG, SF3B4, NF1, PIK3R1

BEARE-STEVENSON CUTIS GYRATA SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, HYPOCHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, TRICHOMEGALY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?BLEEDING DISORDER, PLATELET-TYPE, 19, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, MUENKE SYNDROME, TANGIER DISEASE, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, APERT SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, PSEUDOHYPOPARATHYROIDISM IC, EPIDERMAL NEVUS, PSEUDOPSEUDOHYPOPARATHYROIDISM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?RENAL HYPODYSPLASIA/APLASIA 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SADDAN, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, PROTEUS SYNDROME, SOMATIC

FGF5, FGFR2, APOA1, FGFR1, FGF3, FGF20, PRKCD, GJA1, FGF23, EGFR, PRKACA, HSPG2, GNAS, ESR1, PRKAR1A, ITPR2, PRKACG, FGFR3, SOS1, AKT1, HRAS

ADAMS-OLIVER SYNDROME 5, PAPILLORENAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, CLOVE SYNDROME, SOMATIC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, KOSAKI OVERGROWTH SYNDROME, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, SHORT SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HYPOCHONDROPLASIA, TOOTH AGENESIS, SELECTIVE, 4, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NOONAN SYNDROME 9, ?RENAL HYPODYSPLASIA/APLASIA 2, ADULT SYNDROME, COFFIN-SIRIS SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, RABSON-MENDENHALL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MUENKE SYNDROME, LIMB-MAMMARY SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ODONTOONYCHODERMAL DYSPLASIA, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, LEOPARD SYNDROME 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TRICHOMEGALY, ?IMMUNODEFICIENCY 22, HAY-WELLS SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TRIGONOCEPHALY 1, SADDAN, COFFIN-LOWRY SYNDROME, SCHOPF-SCHULZ-PASSARGE SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

LCK, TSC2, FGF23, KL, NOTCH1, AKT3, FAS, NTRK1, PAX2, LEP, MTOR, FGFR1, FGF5, KITLG, INSR, PTPN11, PIK3CD, AKT1, NGF, ESR1, FGFR2, SMARCE1, WNT10A, FGF20, FGF3, PDGFRA, BDNF, PIK3CA, SOS1, HRAS, EGFR, PDGFRB, FGFR3, RPS6KA3, TP63, SOS2, KIT, PTEN, PIK3R1

ATROPHODERMA VERMICULATUM, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, NICOLAIDES-BARAITSER SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, AICARDI-GOUTIERES SYNDROME 7, SELECTIVE T-CELL DEFECT, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, {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}, PERIODONTITIS 1, JUVENILE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, NEUROFIBROMATOSIS, FAMILIAL SPINAL, HAIM-MUNK SYNDROME, IMMUNODEFICIENCY 35, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, NAXOS DISEASE, FRANK-TER HAAR SYNDROME, ANGELMAN SYNDROME, PRADER-WILLI SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, NEUROFIBROMATOSIS, TYPE 1, BRACHYDACTYLY, TYPE A1, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, EMBERGER SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 7, MUENKE SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HYPOTRICHOSIS 12, WAARDENBURG SYNDROME, TYPE 1, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, TUBEROUS SCLEROSIS-1, FRONTOMETAPHYSEAL DYSPLASIA, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, HERMANSKY-PUDLAK SYNDROME 2, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IA, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HAY-WELLS SYNDROME, LATERAL MENINGOCELE SYNDROME, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SMITH-KINGSMORE SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, NIJMEGEN BREAKAGE SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, WATSON SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, FAMILIAL MEDITERRANEAN FEVER, AR, PYCNODYSOSTOSIS, STORMORKEN SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, PEELING SKIN SYNDROME 4, EPIDERMOLYTIC HYPERKERATOSIS, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, AICARDI-GOUTIERES SYNDROME 5, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, C SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, BROOKE-SPIEGLER SYNDROME, MULIBREY NANISM, CINCA SYNDROME, NOONAN SYNDROME 9, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, HEMOPHILIA A, COFFIN-SIRIS SYNDROME 3, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ?CHILBLAIN LUPUS 2, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, CYLINDROMATOSIS, FAMILIAL, EPIDERMAL NEVUS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, JOHANSON-BLIZZARD SYNDROME, LEGIUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NOONAN SYNDROME 8, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, EVEN-PLUS SYNDROME, KNOBLOCH SYNDROME 1, {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, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ROBINOW SYNDROME, ?IMMUNODEFICIENCY 13, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CEREBELLOFACIODENTAL SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SECKEL SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, LYMPHEDEMA, HEREDITARY, ID, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, COMPLEMENT FACTOR I DEFICIENCY, 3MC SYNDROME 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, TUMOR PREDISPOSITION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, FACTOR XIIIA DEFICIENCY, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, LEOPARD SYNDROME 1, XERODERMA PIGMENTOSUM, GROUP D, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, BASAL CELL NEVUS SYNDROME, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, KAUFMAN OCULOCEREBROFACIAL SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, IMMUNODEFICIENCY 43, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GIANT AXONAL NEUROPATHY-1, LEPRECHAUNISM, OPITZ GBBB SYNDROME, TYPE I, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PHELAN-MCDERMID SYNDROME, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 3, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LIMB-MAMMARY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, 3-M SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, WISKOTT-ALDRICH SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, 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, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, TANGIER DISEASE, PAPILLON-LEFEVRE SYNDROME, ODONTOONYCHODERMAL DYSPLASIA, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, KOSAKI OVERGROWTH SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, BRACHYDACTYLY, TYPE B2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, BRACHYDACTYLY, TYPE A1, D, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, CUTIS LAXA, AD, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO}, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, C4A DEFICIENCY, THROMBOCYTOPENIA 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, FRASER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, GLUCOCORTICOID RESISTANCE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, CARDIOFACIOCUTANEOUS SYNDROME, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HERMANSKY-PUDLAK SYNDROME 1, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, ACNE INVERSA, FAMILIAL, 3, NESTOR-GUILLERMO PROGERIA SYNDROME, ADULT SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?IMMUNODEFICIENCY 16, PREMATURE OVARIAN FAILURE 7, PYRUVATE KINASE DEFICIENCY, URBACH-WIETHE DISEASE, MUCKLE-WELLS SYNDROME, ADAMS-OLIVER SYNDROME 3, ROTHMUND-THOMSON SYNDROME, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, TENORIO SYNDROME, WAARDENBURG SYNDROME, TYPE 2A, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CORNELIA DE LANGE SYNDROME 4, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, MYHRE SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, IMMUNODEFICIENCY 10, 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, BLEEDING DISORDER, PLATELET-TYPE, 17, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, GLYCOGEN STORAGE DISEASE XI, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, BLEEDING DISORDER, PLATELET-TYPE, 11, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TIETZ ALBINISM-DEAFNESS SYNDROME, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, ACROKERATOSIS VERRUCIFORMIS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

GATA1, TSC2, GFI1B, EZH2, CAV1, NF2, TREX1, EDNRA, APOB, COL1A1, LAMTOR2, ST14, RAD21, KITLG, ACTB, FAS, STIM1, GNAS, IKBKG, PIK3CA, PSEN1, SMARCA4, TAP1, APOA1, FTL, ALDOA, MLH1, TP63, CYLD, TUBB, PPARG, CDK5, NOTCH3, SMPD1, PRKAR1A, GAN, ALB, RECQL4, CTNNB1, BTK, SHANK3, B2M, F2, WNT10A, CDKN2A, F8, NOG, IL2RA, FGF3, UBE3B, CDKN1C, RAB7A, PNPLA2, CASP8, MMP1, SEC23A, GATA2, NFKBIA, TGM1, NBN, PCNT, NOTCH1, PRF1, TRIM37, RPL21, CD81, MEFV, MITF, SMAD4, CREBBP, ECM1, RBCK1, PRKACG, IL2RG, CUL7, SF3B4, NF1, SMARCB1, PCNA, CSTA, PAX2, RAG1, GRIP1, MYOM1, IL1RN, PLEC, NFKB2, RUNX1, FCGR2B, MAP2K2, BRAF, EGFR, LZTR1, NME1, SHOC2, NOTCH2, PSMB8, IGF2, ZAP70, PKLR, PIK3CD, THRA, MYO5A, ERCC3, CD3G, LRP1, HLA-DQA1, PIGT, CIITA, MTOR, LDHA, FGFR1, ERCC2, MID1, EDA, LEP, UBR1, ITGA2, BAP1, KRT1, MSH6, ABCA1, SPRED1, GJA1, DSP, SMARCE1, ITGA6, CARD9, PROS1, JAK2, C4A, KLC2, JUP, AAAS, CLEC7A, GP6, NR5A1, VEGFC, AP1S1, RBPJ, TNFRSF1A, TMEM173, TNFRSF4, ALPL, ORAI1, TSHR, IFNG, NLRP1, FGF23, RAG2, NLRP3, RPS6KA3, FGF5, TYK2, SH3PXD2B, RORC, SOS2, HLA-C, PLIN1, FCGR2A, NCF1, BANF1, TGFBR1, DDX3X, IL7R, CD96, DDX41, SUFU, C2, ADAR, DVL3, F13A1, VWF, CBS, TAF1, GHR, SMARCA2, LMX1B, STAT1, KRAS, FLNA, NLRC4, RASA1, CTLA4, PCK1, VHL, KIF1B, ACVR1, JAG1, BMP2, FOXP3, HRAS, BRCA1, NDN, AKT1, CYBA, AP1S3, KL, ITPR2, IFIH1, VDR, CYBB, WNT5A, CTSK, DDX58, COL18A1, WAS, LDLR, COL17A1, UBE3A, HLA-DQB1, ELN, NCF2, ARID1B, CBL, IHH, PRKCD, UNC119, CDSN, CDK4, ISG15, CNBP, EDAR, FANCA, HSPA9, EFNB1, ATR, PTEN, BMPR1B, FGFR3, GNRH1, NOD2, PSTPIP1, TAPBP, DLX5, PLG, KIT, STAT3, OCLN, LCK, NRAS, CUL4B, AR, SLC2A1, MSH2, SMAD3, NGF, MASP1, HNRNPK, SEC23B, PAX3, ATP2A2, UBE2A, CASP10, KIF22, WRN, PTPN11, ATM, TNFAIP3, ITGA2B, DTNBP1, BRF1, NTRK1, ERCC4, NFKB1, NEB, MAP3K1, SAMHD1, CFI, INSR, HLA-B, MED25, AKT3, SOS1, TSC1, BLM, PDGFRB, CXCR4, FGFR2, PTPRC, PLCG2, DEAF1, CTSC, EDARADD, PDGFRA, PCSK9, BDNF, CLASP1, RET, IRF6, RIT1, APC, FLNB, FGF20, ETV6, COL1A2, FASLG, AP3B1, RNF125, PRKACA, SFTPC, EPOR, MYH11, SERPING1, NR3C1, ADAM17, HSPG2, ESR1, ITGB3, TGFBR2, TAP2, HFE, PEX5, PIK3R1, MMP2

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, 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, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, EPIDERMAL NEVUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGFR2, LCK, NCF1, RASA1, ACTB, ITGB3, FGF23, KL, GJA1, RUNX1, NRAS, MAP2K2, LAMTOR2, PAX3, NOTCH1, PLEC, UBE2A, SMARCE1, IGF2, NTRK1, VWF, PAX2, RPS6KA3, TNFAIP3, ITGA2B, F2, NFKB2, FGFR1, FGF5, KITLG, PCNA, LEP, PTPN11, SOS1, SHOC2, JAK2, ESR1, CBL, PSMB8, CDKN2A, FGF20, IL2RA, SPRED1, RAB7A, PRKCD, PDGFRA, KIT, BDNF, FGF3, HNRNPK, EZH2, PIK3CA, AKT1, HRAS, EGFR, KRAS, EFNB1, PDGFRB, FGFR3, SMAD4, NGF, HSPG2, STAT3, SOS2, BRAF, IL2RG, SF3B4, NF1, PIK3R1

ADAMS-OLIVER SYNDROME 5, PAPILLORENAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, CLOVE SYNDROME, SOMATIC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, KOSAKI OVERGROWTH SYNDROME, LEPRECHAUNISM, BANNAYAN-RILEY-RUVALCABA SYNDROME, TRIGONOCEPHALY 1, SHORT SYNDROME, HYPOCHONDROPLASIA, TOOTH AGENESIS, SELECTIVE, 4, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RABSON-MENDENHALL SYNDROME, IMMUNODEFICIENCY 14, EHLERS-DANLOS SYNDROME, TYPE 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NOONAN SYNDROME 9, ADULT SYNDROME, COFFIN-SIRIS SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, BENT BONE DYSPLASIA SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MUENKE SYNDROME, LIMB-MAMMARY SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ODONTOONYCHODERMAL DYSPLASIA, COFFIN-LOWRY SYNDROME, APERT SYNDROME, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TRICHOMEGALY, ?IMMUNODEFICIENCY 22, HAY-WELLS SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SADDAN, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SCHOPF-SCHULZ-PASSARGE SYNDROME, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

LCK, TSC2, FGF23, KL, NOTCH1, AKT3, FAS, PAX2, LEP, MTOR, FGFR1, FGF5, KITLG, INSR, PTPN11, PIK3CD, AKT1, ESR1, FGFR2, SMARCE1, WNT10A, FGF20, FGF3, PDGFRA, BDNF, PIK3CA, SOS1, HRAS, EGFR, PDGFRB, FGFR3, RPS6KA3, TP63, SOS2, KIT, PTEN, PIK3R1

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, WAARDENBURG SYNDROME, TYPE 3, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IA, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, PSEUDOPSEUDOHYPOPARATHYROIDISM, TRICHOMEGALY, PSEUDOHYPOPARATHYROIDISM IC, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, 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}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, LOEYS-DIETZ SYNDROME 3, NOONAN SYNDROME 9, ANGELMAN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SCHOPF-SCHULZ-PASSARGE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, PROTEUS SYNDROME, SOMATIC, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MUENKE SYNDROME, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CLOVE SYNDROME, SOMATIC, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, NEUROFIBROMATOSIS, TYPE 1, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROFIBROMATOSIS, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TSC2, F2, KITLG, ACTB, FAS, GNAS, TAP1, PRKAR1A, ITGA2B, GJA1, B2M, AKT3, CDKN2A, FGF3, RAB7A, PIK3CA, PDGFRB, PRKACG, IL2RG, SF3B4, NF1, PCNA, SHOC2, NF2, PLEC, RUNX1, MAP2K2, PSMB8, IGF2, NOTCH1, MTOR, FGFR1, LEP, PIK3CD, JAK2, CBL, SMARCE1, SPRED1, FGF23, BDNF, RPS6KA3, WAS, BRAF, SOS2, NCF1, ITGB3, UBE2A, IL2RA, SMAD4, RASA1, VWF, PAX2, STAT1, APC, NFKB2, FOXP3, HRAS, AKT1, KRAS, ITPR2, DDX58, APOA1, UBE3A, EZH2, EFNB1, PTEN, FGFR3, KIT, STAT3, LCK, NRAS, NGF, PRKCD, HNRNPK, PAX3, NTRK1, MMP2, PTPN11, TNFAIP3, NFKB1, TSC1, PRKACA, INSR, WNT10A, SOS1, FGFR2, PDGFRA, LAMTOR2, CLASP1, CTLA4, FGF20, EGFR, SMAD3, NR3C1, HSPG2, ESR1, KL, FGF5, PIK3R1

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, GALACTOSE EPIMERASE DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, KAHRIZI SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OMODYSPLASIA 1, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, EHLERS-DANLOS SYNDROME, TYPE 3, BARAITSER-WINTER SYNDROME 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ

MAN1B1, DPM1, GPC6, CHST3, COL1A1, SDHD, PIGA, DPAGT1, B3GAT3, CHST14, NOTCH1, MGAT2, B4GALT7, PMM2, MOGS, ALG3, ALG11, COL1A2, SLC26A2, GALE, PIGC, SRD5A3, NEU1, DOLK, PAPSS2, GPC3, EGFR, MPDU1, GNE, ACTB, HSPG2, EXT2

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, 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, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, EPIDERMAL NEVUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGFR2, LCK, NCF1, RASA1, ACTB, ITGB3, FGF23, KL, GJA1, RUNX1, NRAS, MAP2K2, LAMTOR2, PAX3, NOTCH1, PLEC, UBE2A, SMARCE1, IGF2, NTRK1, VWF, PAX2, RPS6KA3, TNFAIP3, ITGA2B, F2, NFKB2, FGFR1, FGF5, KITLG, PCNA, LEP, PTPN11, SOS1, SHOC2, JAK2, ESR1, CBL, PSMB8, CDKN2A, FGF20, IL2RA, SPRED1, RAB7A, PRKCD, PDGFRA, KIT, BDNF, FGF3, HNRNPK, EZH2, PIK3CA, AKT1, HRAS, EGFR, KRAS, EFNB1, PDGFRB, FGFR3, SMAD4, NGF, HSPG2, STAT3, SOS2, BRAF, IL2RG, SF3B4, NF1, PIK3R1

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NOONAN SYNDROME 7, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, 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, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NOONAN SYNDROME 8, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, EPIDERMAL NEVUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ERYTHROCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, NEUROFIBROMATOSIS, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGFR2, LCK, NCF1, RASA1, ACTB, ITGB3, FGF23, KL, GJA1, IL2RA, NRAS, MAP2K2, LAMTOR2, VWF, PAX3, NOTCH1, PLEC, UBE2A, NF2, IGF2, NTRK1, RIT1, PAX2, RPS6KA3, TNFAIP3, ITGA2B, F2, NFKB2, FGFR1, FGF5, KITLG, PCNA, LEP, PTPN11, SMARCE1, AKT1, SHOC2, JAK2, RUNX1, ESR1, CBL, PSMB8, CDKN2A, FGF20, PRKCD, SPRED1, RAB7A, PDGFRA, VHL, KIT, BDNF, FGF3, HNRNPK, EZH2, PIK3CA, SOS1, HRAS, EGFR, KRAS, EFNB1, PDGFRB, FGFR3, SMAD4, NGF, HSPG2, STAT3, SOS2, BRAF, IL2RG, SF3B4, NF1, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, TOENAIL DYSTROPHY, ISOLATED, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, 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, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ERYTHROCYTOSIS, FAMILIAL, 2, OSTEOGENESIS IMPERFECTA, TYPE II, ?GLYCOPROTEIN IA DEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, GLANZMANN THROMBASTHENIA, EPIDERMOLYSIS BULLOSA PRURIGINOSA, OSTEOGENESIS IMPERFECTA, TYPE XVII, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, WERNER SYNDROME, FUHRMANN SYNDROME, CUTIS LAXA, AD, EPIDERMOLYSIS BULLOSA, PRETIBIAL, SCLEROSTEOSIS 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, ATROPHODERMA VERMICULATUM, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PCWH SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, LOEYS-DIETZ SYNDROME 4, EHLERS-DANLOS SYNDROME, TYPE IV, WAARDENBURG SYNDROME, TYPE 4C, BLEEDING DISORDER, PLATELET-TYPE, 17, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

SOX9, TGFB2, LRP4, WNT7A, ELN, COL5A1, COL6A2, WRN, COL5A2, TGFB3, ITGB3, LRP1, COL6A1, LAMA3, VHL, COL4A1, BMP2, COL3A1, ITGA2, ITGA2B, SOX10, PLG, SPARC, COL1A1, COL18A1, COL1A2, GFI1B, TNXB, ALB, COL6A3, COL7A1

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, 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, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, EPIDERMAL NEVUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGFR2, LCK, NCF1, RASA1, ACTB, ITGB3, FGF23, KL, GJA1, RUNX1, NRAS, MAP2K2, LAMTOR2, PAX3, NOTCH1, PLEC, UBE2A, SMARCE1, IGF2, NTRK1, VWF, PAX2, RPS6KA3, TNFAIP3, ITGA2B, F2, NFKB2, FGFR1, FGF5, KITLG, PCNA, LEP, PTPN11, SOS1, SHOC2, JAK2, ESR1, CBL, PSMB8, CDKN2A, FGF20, IL2RA, SPRED1, RAB7A, PRKCD, PDGFRA, KIT, BDNF, FGF3, HNRNPK, EZH2, PIK3CA, AKT1, HRAS, EGFR, KRAS, EFNB1, PDGFRB, FGFR3, SMAD4, NGF, HSPG2, STAT3, SOS2, BRAF, IL2RG, SF3B4, NF1, PIK3R1

{PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COFFIN-SIRIS SYNDROME 4, INCONTINENTIA PIGMENTI, OPITZ GBBB SYNDROME, TYPE I, IMMUNODEFICIENCY 43, POPLITEAL PTERYGIUM SYNDROME 1, IMMUNODEFICIENCY 38, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, TUBEROUS SCLEROSIS 2, LEOPARD SYNDROME 1, ?IMMUNODEFICIENCY 22, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

GATA1, LCK, SMARCA4, PRKCD, B2M, ISG15, CIITA, PTPN11, STAT1, NTRK1, MID1, HLA-B, IFNG, CBL, JAK2, HLA-DQB1, IKBKG, BDNF, HLA-C, IRF6, ESR1, HLA-DQA1

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, 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, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, EPIDERMAL NEVUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGFR2, LCK, NCF1, RASA1, ACTB, ITGB3, FGF23, KL, GJA1, RUNX1, NRAS, MAP2K2, LAMTOR2, PAX3, NOTCH1, PLEC, UBE2A, SMARCE1, IGF2, NTRK1, VWF, PAX2, RPS6KA3, TNFAIP3, ITGA2B, F2, NFKB2, FGFR1, FGF5, KITLG, PCNA, LEP, PTPN11, SOS1, SHOC2, JAK2, ESR1, CBL, PSMB8, CDKN2A, FGF20, IL2RA, SPRED1, RAB7A, PRKCD, PDGFRA, KIT, BDNF, FGF3, HNRNPK, EZH2, PIK3CA, AKT1, HRAS, EGFR, KRAS, EFNB1, PDGFRB, FGFR3, SMAD4, NGF, HSPG2, STAT3, SOS2, BRAF, IL2RG, SF3B4, NF1, PIK3R1

{PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, GRISCELLI SYNDROME, TYPE 1, HYPER-IGE RECURRENT INFECTION SYNDROME, JOHANSON-BLIZZARD SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, OPITZ GBBB SYNDROME, TYPE I, MISMATCH REPAIR CANCER SYNDROME, IMMUNODEFICIENCY 35, WHIM SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COFFIN-SIRIS SYNDROME 4, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 38, IMMUNODEFICIENCY 43, MUIR-TORRE SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ERYTHROCYTOSIS, FAMILIAL, 2, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, AICARDI-GOUTIERES SYNDROME 5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, HERMANSKY-PUDLAK SYNDROME 1, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, POPLITEAL PTERYGIUM SYNDROME 1, ?CHILBLAIN LUPUS 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CRANIOLENTICULOSUTURAL DYSPLASIA, LEOPARD SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 7, SINGLETON-MERTEN SYNDROME 2

GATA1, SMARCA4, PRKCD, CBL, CIITA, EGFR, ADAR, CREBBP, ISG15, FAS, NTRK1, UBR1, CXCR4, STAT1, DTNBP1, MLH1, IKBKG, MYO5A, VHL, ESR1, MID1, HLA-B, PTPN11, JAK2, B2M, PSMB8, HLA-DQA1, DDX58, IFNG, TAP1, HLA-DQB1, BDNF, SEC23A, SAMHD1, HLA-C, SMAD3, AAAS, IRF6, STAT3, TYK2, FLNB

OSTEOGENESIS IMPERFECTA, TYPE I, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, TOENAIL DYSTROPHY, ISOLATED, KOSAKI OVERGROWTH SYNDROME, POROKERATOSIS 1, MULTIPLE TYPES, ERYTHROCYTOSIS, FAMILIAL, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, TRANSIENT BULLOUS OF THE NEWBORN, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, EHLERS-DANLOS SYNDROME, TYPE 3, EHLERS-DANLOS SYNDROME, TYPE IV, GLANZMANN THROMBASTHENIA, AMELOGENESIS IMPERFECTA, TYPE IA, EPIDERMOLYSIS BULLOSA PRURIGINOSA, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SHORT SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, PRETIBIAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ATROPHODERMA VERMICULATUM, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PCWH SYNDROME, LEOPARD SYNDROME 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, OSTEOGENESIS IMPERFECTA, TYPE II, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ?GLYCOPROTEIN IA DEFICIENCY, FIBROCHONDROGENESIS 1, WAARDENBURG SYNDROME, TYPE 4C, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

ITGB3, MMP2, COL1A1, COL4A1, LAMC2, ITGB4, COL5A2, COL17A1, LRP1, COL11A1, LAMB3, VHL, COL5A1, COL3A1, ITGA2, SOX10, COL6A1, PMVK, MMP1, PTPN11, COL1A2, EGFR, GFI1B, PDGFRB, SMAD3, HSPG2, LAMA3, COL7A1, ITGA6, PIK3R1

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, PSEUDOPSEUDOHYPOPARATHYROIDISM, TRICHOMEGALY, IMMUNODEFICIENCY 43, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, 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}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NOONAN SYNDROME 9, ANGELMAN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, EPIDERMAL NEVUS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SCHOPF-SCHULZ-PASSARGE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MUENKE SYNDROME, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, CLOVE SYNDROME, SOMATIC, RABSON-MENDENHALL SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, PSEUDOHYPOPARATHYROIDISM IA, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, NEUROFIBROMATOSIS, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TSC2, F2, KITLG, ACTB, FAS, GNAS, PRKAR1A, ITGA2B, GJA1, B2M, WNT10A, CDKN2A, FGF3, RAB7A, PIK3CA, PDGFRB, PRKACG, IL2RG, SF3B4, PTEN, SHOC2, NF2, PLEC, RUNX1, MAP2K2, PSMB8, IGF2, NOTCH1, MTOR, FGFR1, LEP, PIK3CD, JAK2, CBL, SMARCE1, SPRED1, KRAS, FGF23, PCNA, RPS6KA3, FGF5, BRAF, SOS2, NCF1, ITGB3, UBE2A, IL2RA, SMAD4, RASA1, VWF, PAX2, NFKB2, FOXP3, HRAS, AKT1, KL, ITPR2, DDX58, APOA1, UBE3A, EZH2, EFNB1, NF1, FGFR3, KIT, STAT3, LCK, NRAS, NGF, PRKCD, HNRNPK, PAX3, NTRK1, MMP2, PTPN11, TNFAIP3, NFKB1, TSC1, PRKACA, INSR, AKT3, SOS1, FGFR2, PDGFRA, LAMTOR2, BDNF, CLASP1, CTLA4, FGF20, EGFR, NR3C1, HSPG2, ESR1, PIK3R1

BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SHORT SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CLOVE SYNDROME, SOMATIC, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, TRIGONOCEPHALY 1, ESTROGEN RESISTANCE, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MUENKE SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, WAARDENBURG SYNDROME, TYPE 1, APERT SYNDROME, EPIDERMAL NEVUS, HYPOCHONDROPLASIA, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, WAARDENBURG SYNDROME, TYPE 3, SADDAN, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

FGFR2, STAT1, FGFR1, LEP, FGF20, FGF23, NGF, FGFR3, STAT3, ESR1, PIK3R1, FGF5, PIK3CA, AKT1, CTNNB1, PAX3

BEARE-STEVENSON CUTIS GYRATA SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, SHORT SYNDROME, HYPOCHONDROPLASIA, IMMUNODEFICIENCY 14, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, CLOVE SYNDROME, SOMATIC, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, TRIGONOCEPHALY 1, ESTROGEN RESISTANCE, MUENKE SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, WAARDENBURG SYNDROME, TYPE 1, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, EPIDERMAL NEVUS, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, WAARDENBURG SYNDROME, TYPE 3, SADDAN, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

NRAS, FGFR3, KRAS, PAX3, STAT1, FGFR1, STAT3, LEP, HRAS, PIK3CD, AKT1, NGF, FGFR2, FGF3, PIK3CA, SOS1, FGF20, FGF23, SMAD4, ESR1, FGF5, PIK3R1

BARAITSER-WINTER SYNDROME 1, HYPER-IGE RECURRENT INFECTION SYNDROME, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HYPOCHONDROPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, 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, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, EPIDERMAL NEVUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

FGFR2, LCK, NCF1, RASA1, ACTB, ITGB3, FGF23, KL, GJA1, RUNX1, NRAS, MAP2K2, LAMTOR2, PAX3, NOTCH1, PLEC, UBE2A, SMARCE1, IGF2, NTRK1, VWF, PAX2, RPS6KA3, TNFAIP3, ITGA2B, F2, NFKB2, FGFR1, FGF5, KITLG, PCNA, LEP, PTPN11, PIK3CD, MTOR, SOS1, SHOC2, JAK2, ESR1, CBL, PSMB8, CDKN2A, FGF20, IL2RA, SPRED1, RAB7A, PRKCD, PDGFRA, KIT, BDNF, FGF3, HNRNPK, EZH2, PIK3CA, AKT1, HRAS, EGFR, KRAS, EFNB1, PDGFRB, FGFR3, SMAD4, NGF, HSPG2, STAT3, SOS2, BRAF, IL2RG, SF3B4, NF1, PIK3R1

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, LATERAL MENINGOCELE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, NOONAN SYNDROME 7, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, EHLERS-DANLOS SYNDROME, TYPE 3, 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, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MELNICK-NEEDLES SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, EVEN-PLUS SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, WAARDENBURG SYNDROME, TYPE 3, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ACROCAPITOFEMORAL DYSPLASIA, LEOPARD SYNDROME 3, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FAMILIAL MEDITERRANEAN FEVER, AR, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PYCNODYSOSTOSIS, AGAMMAGLOBULINEMIA, X-LINKED 1, 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, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, TRICHOMEGALY, IMMUNODEFICIENCY 43, ?RENAL HYPODYSPLASIA/APLASIA 2, ?IMMUNODEFICIENCY 22, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY 35, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, 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}, PEELING SKIN SYNDROME 4, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, JOHANSON-BLIZZARD SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, HYPOCHONDROPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, RUBINSTEIN-TAYBI SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, BROOKE-SPIEGLER SYNDROME, CRANIOFRONTONASAL DYSPLASIA, C2 DEFICIENCY, SINGLETON-MERTEN SYNDROME 1, LOEYS-DIETZ SYNDROME 3, PHELAN-MCDERMID SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, EPIDERMOLYTIC HYPERKERATOSIS, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, MUCKLE-WELLS SYNDROME, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE A1, D, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, 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, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, CYLINDROMATOSIS, FAMILIAL, OSSEOUS HETEROPLASIA, PROGRESSIVE, CINCA SYNDROME, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, BRACHYDACTYLY, TYPE A1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, PSEUDOHYPOPARATHYROIDISM IA, TENORIO SYNDROME, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, OCULOECTODERMAL SYNDROME, CORNELIA DE LANGE SYNDROME 4, ATAXIA-TELANGIECTASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, 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, MYOTONIC DYSTROPHY 2, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, XERODERMA PIGMENTOSUM, GROUP B, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HYPOTRICHOSIS 12, WAARDENBURG SYNDROME, TYPE 1, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ODONTOONYCHODERMAL DYSPLASIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SCHOPF-SCHULZ-PASSARGE SYNDROME, DARIER DISEASE, 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}, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPERTHYROIDISM, NONAUTOIMMUNE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, WAARDENBURG SYNDROME, TYPE 2A, ?IMMUNODEFICIENCY 13, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, RABSON-MENDENHALL SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, PAPILLORENAL SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, KOSAKI OVERGROWTH SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, CEREBELLOFACIODENTAL SYNDROME, INCONTINENTIA PIGMENTI, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, BLEEDING DISORDER, PLATELET-TYPE, 11, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, THROMBOCYTOPENIA 5, HAJDU-CHENEY SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, LYMPHEDEMA, HEREDITARY, ID, NEUROFIBROMATOSIS, TYPE 1, ANDROGEN INSENSITIVITY, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, COMPLEMENT FACTOR I DEFICIENCY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, 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, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CUTIS LAXA, AD, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, TIETZ ALBINISM-DEAFNESS SYNDROME, MUENKE SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MYHRE SYNDROME, FACTOR XIIIA DEFICIENCY, APERT SYNDROME, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, NEUROFIBROMATOSIS, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, C4A DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, BENT BONE DYSPLASIA SYNDROME, XERODERMA PIGMENTOSUM, GROUP D, SECKEL SYNDROME 1, SMITH-KINGSMORE SYNDROME, HEMOPHILIA A, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TANGIER DISEASE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ACROKERATOSIS VERRUCIFORMIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

PLIN1, TSC2, EZH2, CAV1, TREX1, PROS1, COL1A1, CNBP, RAD21, F8, ACTB, FAS, GNAS, IKBKG, PIK3CA, LCK, TAP1, APOA1, F2, CYLD, PPARG, CTNNB1, CDK5, NOTCH3, PRKAR1A, ALB, CDK4, UBE2A, BTK, NEB, B2M, AKT3, CDKN2A, FGF3, RAB7A, PNPLA2, SHOC2, NFKBIA, TGM1, AR, PRF1, ERCC2, MEFV, PDGFRB, SMAD4, CREBBP, PRKACG, IL2RG, RBPJ, SF3B4, PTEN, ITGA2, PCNA, CSTA, NF2, IFIH1, GRIP1, MYOM1, F13A1, PLEC, RUNX1, ELN, BRAF, EGFR, NME1, PSMB8, IGF2, ETV6, NOTCH2, ERCC3, C2, CIITA, MTOR, FGFR1, SHANK3, LEP, UBR1, PIK3CD, KRT1, MSH6, JAK2, CBL, SMARCE1, CARD9, IFNG, C4A, CLEC7A, SERPING1, GP6, VEGFC, CD81, TNFRSF1A, TMEM173, TSHR, NLRP1, FGF23, LAMTOR2, RPS6KA3, FGF5, DVL3, TYK2, MYO5A, SOS2, GATA1, FCGR2A, NCF1, TGFBR1, ITGB3, GJA1, IL2RA, DDX41, SUFU, ADAR, CTSK, RASA1, VWF, TAF1, PAX2, STAT1, NLRC4, APC, NFKB2, TUBB, BMP2, FOXP3, FGF20, AKT1, KRAS, ITPR2, VDR, WNT5A, DDX58, CFI, WAS, UBE3A, FASLG, MAP2K2, IHH, PRKCD, CDSN, ITGA2B, PSTPIP1, FANCA, HSPA9, EFNB1, ATR, NF1, FGFR3, TSC1, NOD2, PLG, KIT, STAT3, MITF, NRAS, ISG15, FLNA, SPRED1, ZAP70, NGF, MASP1, HNRNPK, PAX3, ATP2A2, CASP10, NTRK1, MMP2, PTPN11, ATM, TNFAIP3, BRF1, PDGFRA, BMPR1B, ERCC4, NFKB1, ESR1, MAP3K1, INSR, HLA-B, NOTCH1, WNT10A, SOS1, MSH2, CXCR4, FGFR2, PTPRC, PLCG2, DEAF1, CD3G, GPX4, PCSK9, BDNF, CLASP1, UNC119, KITLG, IRF6, CTLA4, HRAS, HLA-C, RPL21, RNF125, PRKACA, GNRH1, EPOR, SMAD3, NR3C1, HSPG2, NLRP3, CASP8, KL, FLNB, PEX5, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA PRURIGINOSA, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, WAARDENBURG SYNDROME, TYPE 3, EHLERS-DANLOS SYNDROME, TYPE IV, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, 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, TRICHOMEGALY, IMMUNODEFICIENCY 43, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, TOENAIL DYSTROPHY, ISOLATED, 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}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, LOEYS-DIETZ SYNDROME 3, NOONAN SYNDROME 9, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, FUHRMANN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, EPIDERMOLYSIS BULLOSA, PRETIBIAL, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, 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, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, ?RENAL HYPODYSPLASIA/APLASIA 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, WAARDENBURG SYNDROME, TYPE 4C, SCHOPF-SCHULZ-PASSARGE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ALAGILLE SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, WISKOTT-ALDRICH SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, MUENKE SYNDROME, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CLOVE SYNDROME, SOMATIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, PSEUDOHYPOPARATHYROIDISM IA, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, ERYTHROCYTOSIS, FAMILIAL, 2, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, TRANSIENT BULLOUS OF THE NEWBORN, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE XVII, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROFIBROMATOSIS, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC