SKELETAL

METACHONDROMATOSIS, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY 43, RHEUMATOID ARTHRITIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

HLA-DQB1, B2M, IFNG, HLA-DRB1, STAT1, HLA-DQA1, PTPN11

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMAGE SYNDROME, CAFFEY DISEASE, CAMURATI-ENGELMANN DISEASE, LOEYS-DIETZ SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE IV, AORTIC ANEURYSM, FAMILIAL THORACIC 9, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, LOEYS-DIETZ SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DU PAN SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, GELEOPHYSIC DYSPLASIA 2, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, EHLERS-DANLOS SYNDROME, TYPE 3, BRACHYDACTYLY, TYPE A1, C, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ALAGILLE SYNDROME, RENAL ADYSPLASIA, DENTAL ANOMALIES AND SHORT STATURE, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ACROMICRIC DYSPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MULTIPLE SYNOSTOSES SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, BRACHYDACTYLY, TYPE A2, MYHRE SYNDROME, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, LOEYS-DIETZ SYNDROME 2, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, BRACHYDACTYLY, TYPE C, CHONDRODYSPLASIA, GREBE TYPE, MARFAN LIPODYSTROPHY SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE II, BRACHYDACTYLY, TYPE A1, D, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, WEILL-MARCHESANI SYNDROME 3, RECESSIVE

GDF5, ACAN, ITGA8, COL1A1, FBLN1, SMAD4, TGFB1, NOTCH1, TGFB3, TGFB2, BMP2, LEMD3, LTBP2, BMP4, FBN2, FBLN5, EFEMP2, FBN1, TGFBR1, COL1A2, MFAP5, LTBP4, CDKN1C, BMPER, JAG1, TGFBR2, LTBP3, BMPR1B, ACVR1, IGF1

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CATSHL SYNDROME, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?MULTIPLE SYNOSTOSES SYNDROME 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, OPSISMODYSPLASIA, WAARDENBURG SYNDROME, TYPE 3, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, METACARPAL 4-5 FUSION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS, TYPE 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, METACHONDROMATOSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MYHRE SYNDROME, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

F2, PITX1, WNT5A, HSPB1, ACTB, AGT, EDN1, UBE2A, IL17RD, B2M, RAB7A, PIK3CA, BMP4, PDGFRB, SF3B4, NF1, ACTA1, SHOC2, PLEC, ERBB3, IL10, MAP2K2, FGF9, PSMB8, IGF2, NOTCH1, MTOR, FGFR1, FGF17, CBL, SMARCE1, RB1, FGF23, RPS6KA3, STAT3, DUSP6, BRAF, INS, NCF1, GJA1, ACE, SMAD4, VWF, PAX2, HLA-DRB1, DMD, HES7, FGF20, AKT1, CCND2, KRAS, INPPL1, VCP, TP53, NEFL, EZH2, EFNB1, MUSK, FGFR3, PAX3, KIT, RUNX2, NRAS, NGF, PRKCD, UBB, HNRNPK, FBLN1, ACTG1, PIK3R2, NTRK1, PTPN11, TNFAIP3, FGF10, TGFB1, SPRY4, SOS1, KARS, FGFR2, FGF16, PDGFRA, L1CAM, PCNA, HRAS, HSPG2, ESR1, KL, PIK3R1

COLE-CARPENTER SYNDROME 2, IMMUNODEFICIENCY 43, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CRANIOLENTICULOSUTURAL DYSPLASIA, {PSORIASIS SUSCEPTIBILITY 1}

HLA-C, SEC24D, HLA-B, B2M, SEC23A

BARAITSER-WINTER SYNDROME 1, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SULFATASE DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PITUITARY DEPENDENT HYPERCORTISOLISM, SHORT SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BLOOM SYNDROME, MELNICK-NEEDLES SYNDROME, COLE-CARPENTER SYNDROME 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, CAFFEY DISEASE, COLE-CARPENTER SYNDROME 2, WERNER SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, DYSAUTONOMIA, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AORTIC ANEURYSM, FAMILIAL THORACIC 9, SALLA DISEASE, AGAMMAGLOBULINEMIA, X-LINKED 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, PETERS-PLUS SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, NOONAN SYNDROME 4, ADAMS-OLIVER SYNDROME 5, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, BOHRING-OPITZ SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, CORNELIA DE LANGE SYNDROME 4, MENTAL RETARDATION, X-LINKED 102, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, PRADER-WILLI SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FACTOR VII DEFICIENCY, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, STIFF SKIN SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, CHIME SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, KAHRIZI SYNDROME, WEAVER SYNDROME, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, CORNELIA DE LANGE SYNDROME 2, KNOBLOCH SYNDROME 1, NESTOR-GUILLERMO PROGERIA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, OCULOECTODERMAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE II, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, WIEDEMANN-STEINER SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, TYPE VIIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, BERGER DISEASE, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEMOPHILIA A, IMMUNODEFICIENCY 23, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, EHLERS-DANLOS SYNDROME, TYPE 3, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, POLYCYSTIC LIVER DISEASE, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, VON WILLIBRAND DISEASE, TYPE 3, GELEOPHYSIC DYSPLASIA 2, LATERAL MENINGOCELE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, ACROMICRIC DYSPLASIA, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CONGENITAL DISORDER OF DEGLYCOSYLATION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, GELEOPHYSIC DYSPLASIA 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, EXOSTOSES, MULTIPLE, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, AU-KLINE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NEU1, F2, NGLY1, RAD21, SRD5A3, GNAS, CTSA, RPL5, GLB1, B3GLCT, MGAT2, PMM2, MUC5B, P4HB, ALG3, PTHLH, GGCX, BTK, B2M, SLC17A5, ALG1, PIGO, COL1A1, SEC23A, DES, ALG2, MMP2, PIGL, ARSE, RPS19, JAG1, IGF1, IKBKAP, RBPJ, ACTB, ACAN, KRAS, ERBB3, DPH1, WRN, PIGT, NOTCH1, MTOR, PLOD3, MOGS, ASXL1, COL1A2, IFNG, CBL, MET, ADAMTS10, EFTUD2, EP300, GALNT3, ADAMTS2, NOTCH3, ADAMTSL2, INS, SMC3, ADAMTS18, PIGR, BANF1, PIGV, DDX3X, SMAD4, VWF, STAT1, GMPPB, ASCC1, BMP2, MFAP5, BRCA1, NDN, AKT1, BIN1, TP53, UBE3A, PGM3, CHEK2, EZH2, SMC1A, DPM2, HSPA9, GNE, SEC24D, XRCC4, SOX10, ITGA6, HRAS, STAT3, RUNX2, SUMF1, GLE1, PIGA, FLNA, NGF, PRKCD, HNRNPK, FBLN1, ACTG1, DPM1, PRKCSH, TGFB1, RFT1, CENPE, EXT2, F8, F7, SOS1, BLM, HERC2, FBN1, DPAGT1, F10, HLA-C, MPDU1, HSPG2, ESR1, ARSB, ALG13, PIGN, PIK3R1

?BARDET-BIEDL SYNDROME 18, BARDET-BIEDL SYNDROME 6, BARDET-BIEDL SYNDROME 17, BARDET-BIEDL SYNDROME 8, BARDET-BIEDL SYNDROME 10, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, BARDET-BIEDL SYNDROME 3, BARDET-BIEDL SYNDROME 12, BARDET-BIEDL SYNDROME 4, BARDET-BIEDL SYNDROME 9, MCKUSICK-KAUFMAN SYNDROME, BARDET-BIEDL SYNDROME 5, BARDET-BIEDL SYNDROME 2, BARDET-BIEDL SYNDROME 7, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1

BBS5, BBS12, ARL6, BBS2, BBS9, BBIP1, CCT5, BBS7, LZTFL1, BBS4, BBS10, ARL6IP1, MKKS, BBS1, TTC8

HYPER-IGE RECURRENT INFECTION SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, CARASIL SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, ADAMS-OLIVER SYNDROME 3, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FANCONI-BICKEL SYNDROME, SPLIT-HAND/FOOT MALFORMATION 6, CRANIOSYNOSTOSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, NEUROFIBROMATOSIS, TYPE 1, BRACHYDACTYLY, TYPE A1, WAARDENBURG SYNDROME, TYPE 4C, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, CULLER-JONES SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TIMOTHY SYNDROME, NOONAN SYNDROME 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, BRACHYDACTYLY, TYPE E2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, MUENKE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 1, ABLEPHARON-MACROSTOMIA SYNDROME, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FRONTONASAL DYSPLASIA 2, TUBEROUS SCLEROSIS-1, WAARDENBURG SYNDROME, TYPE 3, MYASTHENIC SYNDROME, CONGENITAL, 16, ?DYSTONIA 23, NAIL-PATELLA SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, METACHONDROMATOSIS, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ROUSSY-LEVY SYNDROME, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE XV, CURRARINO SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MARFAN LIPODYSTROPHY SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, VACTERL ASSOCIATION, X-LINKED, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, OHDO SYNDROME, X-LINKED, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, OSTEOGENESIS IMPERFECTA, TYPE XVII, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, CLEFT PALATE, ISOLATED, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, HEMOCHROMATOSIS, TYPE 2A, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ISCHIOCOXOPODOPATELLAR SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PANCREATIC AND CEREBELLAR AGENESIS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, VELOCARDIOFACIAL SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, RHEUMATOID ARTHRITIS, ARTHROGRYPOSIS, DISTAL, TYPE 8, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, TARSAL-CARPAL COALITION SYNDROME, OPSISMODYSPLASIA, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, METACARPAL 4-5 FUSION, SYMPHALANGISM, PROXIMAL, 1A, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PALLISTER-HALL SYNDROME, KNOBLOCH SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIGEORGE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, DUCHENNE MUSCULAR DYSTROPHY, ALAGILLE SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, APERT SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPOCHONDROPLASIA, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CEREBELLOFACIODENTAL SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, SECKEL SYNDROME 1, GELEOPHYSIC DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, AVASCULAR NECROSIS OF THE FEMORAL HEAD, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, HYPEREKPLEXIA HEREDITARY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, LEOPARD SYNDROME 1, BASAL CELL NEVUS SYNDROME, CAMURATI-ENGELMANN DISEASE, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, PARIETAL FORAMINA 2, DEJERINE-SOTTAS DISEASE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CENTRONUCLEAR MYOPATHY 5, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, OSTEOGENESIS IMPERFECTA, TYPE III, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, CAPOS SYNDROME, PHELAN-MCDERMID SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FANCONI RENOTUBULAR SYNDROME 2, HAND-FOOT-UTERUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPOPHOSPHATEMIC RICKETS, AR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, STIFF SKIN SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, CORNELIA DE LANGE SYNDROME 2, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DUANE-RADIAL RAY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, ?CHARGE SYNDROME, CHARGE SYNDROME, NASU-HAKOLA DISEASE, CORNELIA DE LANGE SYNDROME 1, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, KOSAKI OVERGROWTH SYNDROME, OPITZ-KAVEGGIA SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BRACHYDACTYLY, TYPE A1, D, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, LADD SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, MOHR-TRANEBJAERG SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, COLE-CARPENTER SYNDROME 1, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, MYOPATHY, TUBULAR AGGREGATE, 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, MENTAL RETARDATION, X-LINKED 99, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RUBINSTEIN-TAYBI SYNDROME, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, DIAPHANOSPONDYLODYSOSTOSIS, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SMITH-LEMLI-OPITZ SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PITUITARY DEPENDENT HYPERCORTISOLISM, LUJAN-FRYNS SYNDROME, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, FUHRMANN SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, JACKSON-WEISS SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SYNDACTYLY, TYPE V, BRACHYDACTYLY, TYPE E, MYOPATHY, DISTAL, TATEYAMA TYPE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, IVIC SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, ?BARDET-BIEDL SYNDROME 11, HOLOPROSENCEPHALY-9, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, PCWH SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, VON WILLIBRAND DISEASE, TYPE 3, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, WEAVER SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME

TCF12, SLC34A1, DNM2, F2, KIF5A, POLR1A, HSPB1, NCF1, MMP1, ACTB, ITGB4, IGBP1, CIITA, PIK3CA, COL3A1, SMARCA4, AP2S1, ALPL, AGT, INSR, CDK5, SOX2, OTX2, PRKAR1A, EDN1, ITGA8, BTK, B2M, PITX1, COL6A1, NOG, EGR2, SALL4, CLASP1, BAG3, PAX3, TRIM32, GATA2, BMPER, ROBO3, MMP2, PIP5K1C, SMARCA2, BMP4, CDC73, TYROBP, POR, EMD, TIMM8A, HOXD13, CAPN3, GRID2, COL2A1, COL9A3, RBPJ, COL10A1, NF1, COL9A1, HTRA1, PTCH1, WNT7A, NF2, SCN4A, ACVR1, KRAS, ERBB3, GLI2, MAP2K2, FGF9, FIBP, SLC9A3R1, NME1, SHOC2, FSHR, PSMB8, P4HB, NOTCH2, SEMA3E, NOTCH1, DNMT3A, MYCN, PTF1A, DAG1, AP1S2, RYR1, FGFR1, ERCC2, CASK, COL7A1, HOXA13, CACNA1B, COL9A2, FGF17, COL1A1, MECOM, COL17A1, GJA1, PLOD3, SMARCE1, DLX5, HS6ST1, MET, MED13L, EFTUD2, SPARC, AIP, SPEG, WNT1, MPZ, EP300, TAF1, COL5A1, ERCC5, NR2F1, TNFRSF1A, SF3B4, T, SCYL1, GSC, MYH3, FGF23, ZIC3, RPS6KA3, CTDP1, GPHN, KMT2A, DUSP6, TBX1, INS, LRP6, EZH2, GCK, PAX8, ACTA1, CAV3, STIM1, TGFBR1, KCNJ11, HFE2, SLC2A2, ACE, TWIST2, GLI3, AP4M1, IGF1, TREM2, SMAD4, PLEC, PLCG2, VWF, CBS, PAX2, ERCC4, LMX1B, HLA-DRB1, HDAC6, GRIP1, CASR, CNTN1, DMD, SOX9, PQBP1, ASCC1, HNF4A, TNFAIP3, KL, CREBBP, BMP2, FGF20, BRCA1, MTOR, PTHLH, AKT1, CCND2, NGF, INPPL1, VDR, WNT5A, FOXC2, F13A1, IGF1R, MED12, COL18A1, WAS, MNX1, TRIP4, ATP1A3, DLL4, USP9X, FBN1, CBL, IHH, TWIST1, TP53, SMC1A, JAG1, TINF2, ITCH, EFNB1, TUBB3, PTEN, BMPR1B, FGFR3, MUSK, HAMP, BRAF, SHANK3, SOX10, ITGA6, COL6A3, KIT, STAT3, RUNX2, SUMF1, HLA-DQA1, PRKDC, NRAS, COL6A2, FLNA, MYH11, BIN1, PRKCD, UBB, HNRNPK, FBLN1, ACTG1, IL10, COL5A2, DHCR7, PIK3R2, NTRK1, IGF2, PTPN11, PDE4D, NEFL, DVL1, BRF1, HNF1B, FGF10, TGFB1, TBX4, STAT1, SPRY4, TSC1, PRKACA, PCNA, CACNA1C, TCF4, MED25, AKT3, SCN9A, SOS1, KARS, PDGFRB, FGFR2, CNTNAP1, FGF16, ALX4, UBE2A, IL17RD, SCN11A, PDGFRA, L1CAM, GNAS, RAB7A, RET, VCP, HRAS, COL1A2, LRP2, MAPT, IFT80, AGPAT2, HES7, SMAD3, CYP7B1, ATR, CFL2, HSPG2, ESR1, TGFBR2, DDX58, PIK3R1, MYH14, DMP1, WNT10B

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, CAFFEY DISEASE, CAMURATI-ENGELMANN DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, AORTIC ANEURYSM, FAMILIAL THORACIC 9, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CZECH DYSPLASIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, VON WILLIBRAND DISEASE, TYPE 3, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, GELEOPHYSIC DYSPLASIA 2, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, EHLERS-DANLOS SYNDROME, TYPE 3, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MYASTHENIC SYNDROME, CONGENITAL, 19, RENAL ADYSPLASIA, SED CONGENITA, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, KNIEST DYSPLASIA, ACROMICRIC DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, FUHRMANN SYNDROME, ?MYOSCLEROSIS, CONGENITAL, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, STICKLER SYNDROME, TYPE I, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, AVASCULAR NECROSIS OF THE FEMORAL HEAD, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE IV, STIFF SKIN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MARFAN LIPODYSTROPHY SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEGG-CALVE-PERTHES DISEASE, BETHLEM MYOPATHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PSEUDOACHONDROPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SPLIT-HAND/FOOT MALFORMATION 1, EHLERS-DANLOS SYNDROME, TYPE IV, KNOBLOCH SYNDROME 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

WNT7A, COL18A1, F2, ITGA8, COL1A1, COL6A2, VWF, TGFB1, COL5A2, DAG1, COL6A1, COL5A1, COL3A1, COL6A3, COL9A2, MMP2, ITGA6, COMP, ITGA3, FBN1, COL10A1, COL1A2, MFAP5, ITGA7, COL13A1, HSPG2, COL7A1, DLX5, COL9A3, RUNX2, COL2A1, COL9A1

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMAGE SYNDROME, CAFFEY DISEASE, CAMURATI-ENGELMANN DISEASE, LOEYS-DIETZ SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE IV, AORTIC ANEURYSM, FAMILIAL THORACIC 9, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, LOEYS-DIETZ SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DU PAN SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, GELEOPHYSIC DYSPLASIA 2, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, EHLERS-DANLOS SYNDROME, TYPE 3, BRACHYDACTYLY, TYPE A1, C, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ALAGILLE SYNDROME, RENAL ADYSPLASIA, DENTAL ANOMALIES AND SHORT STATURE, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ACROMICRIC DYSPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MULTIPLE SYNOSTOSES SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, BRACHYDACTYLY, TYPE A2, MYHRE SYNDROME, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, LOEYS-DIETZ SYNDROME 2, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, BRACHYDACTYLY, TYPE C, CHONDRODYSPLASIA, GREBE TYPE, MARFAN LIPODYSTROPHY SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE II, BRACHYDACTYLY, TYPE A1, D, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY

GDF5, ACAN, ITGA8, COL1A1, FBLN1, SMAD4, TGFB1, NOTCH1, TGFB3, TGFB2, AGT, BMP2, LEMD3, LTBP2, BMP4, FBN2, FBLN5, EFEMP2, FBN1, TGFBR1, COL1A2, RUNX2, MFAP5, LTBP4, CDKN1C, BMPER, JAG1, TGFBR2, LTBP3, BMPR1B, ACVR1, IGF1

BARDET-BIEDL SYNDROME 10, RITSCHER-SCHINZEL SYNDROME 2, HYPER-IGE RECURRENT INFECTION SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ALSTROM SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, ?OROFACIODIGITAL SYNDROME XIV, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MECKEL SYNDROME 2, BARDET-BIEDL SYNDROME 6, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HUTCHINSON-GILFORD PROGERIA, DYSAUTONOMIA, FAMILIAL, BARDET-BIEDL SYNDROME 17, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BARDET-BIEDL SYNDROME 3, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ?BARDET-BIEDL SYNDROME 19, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, AURICULOCONDYLAR SYNDROME 3, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MANDIBULOACRAL DYSPLASIA, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL TUBULAR DYSGENESIS, BARDET-BIEDL SYNDROME 16, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, OROFACIODIGITAL SYNDROME IV, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, BARDET-BIEDL SYNDROME 4, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, BARDET-BIEDL SYNDROME 7, INCONTINENTIA PIGMENTI, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, MECKEL SYNDROME 10, MUSCULAR DYSTROPHY, CONGENITAL, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, DIAMOND-BLACKFAN ANEMIA 6, LOEYS-DIETZ SYNDROME 3, ?MECKEL SYNDROME 9, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, JOUBERT SYNDROME 2, COFFIN-SIRIS SYNDROME 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MECKEL SYNDROME 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, MECKEL SYNDROME 1, ACHONDROGENESIS, TYPE IA, MALOUF SYNDROME, JOUBERT SYNDROME 15, GALACTOSIALIDOSIS, ?MICROHYDRANENCEPHALY, JOUBERT SYNDROME 13, BARAITSER-WINTER SYNDROME 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, NEPHRONOPHTHISIS 13, JOUBERT SYNDROME 10, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, CRANIOECTODERMAL DYSPLASIA 1, JOUBERT SYNDROME 24, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, BARDET-BIEDL SYNDROME 9, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ?JOUBERT SYNDROME 22, OCULOECTODERMAL SYNDROME, ?BARDET-BIEDL SYNDROME 18, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BARDET-BIEDL SYNDROME 12, COFFIN-SIRIS SYNDROME 4, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SECKEL SYNDROME 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, BARDET-BIEDL SYNDROME 8, RESTRICTIVE DERMOPATHY, LETHAL, ESTROGEN RESISTANCE, MECKEL SYNDROME 3, CRANIOECTODERMAL DYSPLASIA 3, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, NICOLAIDES-BARAITSER SYNDROME, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, PERRAULT SYNDROME 5, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, BARDET-BIEDL SYNDROME 13, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, JOUBERT SYNDROME 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, ?SECKEL SYNDROME 4, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, LEUKODYSTROPHY, HYPOMYELINATING, 10, CRANIOECTODERMAL DYSPLASIA 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, NEPHRONOPHTHISIS 15, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MCKUSICK-KAUFMAN SYNDROME, MECKEL SYNDROME 5, BARDET-BIEDL SYNDROME 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, BARDET-BIEDL SYNDROME 5, MYHRE SYNDROME, OROFACIODIGITAL SYNDROME I, ?MECKEL SYNDROME 8, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, ?CRANIOECTODERMAL DYSPLASIA 4, JOUBERT SYNDROME 18, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MECKEL SYNDROME 4, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, SENIOR-LOKEN SYNDROME 9, HEART-HAND SYNDROME, SLOVENIAN TYPE, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, PALLISTER-HALL SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, RETINITIS PIGMENTOSA 71, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC

LMNA, TMEM216, KIF5A, TCTN3, MKS1, CC2D2A, PIGT, IKBKG, GLI3, CTSA, RPL5, AGTR1, CCT5, UBA1, EDN1, KISS1R, STK11, BBIP1, DST, NDRG1, PDE6D, SMARCA4, TTC8, BBS2, SPAST, SMAD4, CREBBP, GNAI2, DYNC2H1, VRK1, ACTB, ALMS1, PLEC, BBS10, CLUAP1, THRA, WDR60, EDNRA, SDCCAG8, CEP152, B9D2, IKBKAP, NR1I3, CRYAB, EFTUD2, C2CD3, IFT122, CCDC22, EP300, MKKS, HSPD1, RBPJ, ARL6, RB1, STAT3, IFT140, INS, SMC3, TRIP11, BBS12, DDX3X, TRAF3IP1, SMARCA2, TTC21B, INPP5E, CEP290, MRPS16, HDAC6, CTDP1, DMD, TUBB, CEP164, PYCR2, BRCA1, TCTN1, AKT1, TUBB3, NDE1, WDR35, KARS, THRB, TMEM67, ARL6IP1, TCTN2, RPGRIP1L, HSPA9, WDR34, SLC9A3R1, LZTFL1, DYNC1H1, CENPJ, BBS9, AHI1, BBS5, SMARCB1, BBS7, B9D1, CEP41, MED25, IFT27, CASK, IFT43, EXOC8, PRKACA, IFT172, PCNT, CEP57, TP53, BBS1, WDR19, RPL11, OFD1, BBS4, CLASP1, SNAP25, HRAS, POLG, IFT80, AGPAT2, SMAD3, ATR, ESR1, C10orf2

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ACHONDROPLASIA, PEUTZ-JEGHERS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CATSHL SYNDROME, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?MULTIPLE SYNOSTOSES SYNDROME 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LIEBENBERG SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, NEUROFIBROMATOSIS, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, METACARPAL 4-5 FUSION, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, METACHONDROMATOSIS, KOSAKI OVERGROWTH SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MYHRE SYNDROME, PAGET DISEASE OF BONE 3, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, F2, PITX1, HSPB1, ACTB, SQSTM1, AGT, EDN1, UBE2A, IL17RD, UBB, STK11, NF1, RAB7A, PIK3CA, BMP4, CDC73, PDGFRB, SOX2, SF3B4, MUSK, ACTA1, SHOC2, PLEC, ERBB3, CBL, MAP2K2, FGF9, SMARCE1, IGF2, NOTCH1, MTOR, FGFR1, FGF17, IL10, PSMB8, ICK, FGF23, PCNA, RPS6KA3, STAT3, DUSP6, BRAF, INS, NCF1, GJA1, ACE, SMAD4, VWF, PAX2, HLA-DRB1, HDAC6, DMD, HES7, HRAS, AKT1, CCND2, KRAS, VCP, TP53, NEFL, EZH2, EFNB1, PTEN, FGFR3, PAX3, KIT, RUNX2, NRAS, NGF, PRKCD, HNRNPK, FBLN1, ACTG1, PIK3R2, NTRK1, PTPN11, TNFAIP3, FGF10, TGFB1, SPRY4, ESR1, PRKACA, INSR, SOS1, KARS, FGFR2, FGF16, PDGFRA, L1CAM, STRADA, FGF20, HSPG2, TSC1, KL, PIK3R1

CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, CLEFT PALATE, ISOLATED, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

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

LOEYS-DIETZ SYNDROME 1, IMMUNODEFICIENCY 12, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CLEFT PALATE, ISOLATED, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SHORT SYNDROME, METACHONDROMATOSIS, IMMUNODEFICIENCY 43, BANNAYAN-RILEY-RUVALCABA SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, LEOPARD SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

ACTA1, B2M, ACTG1, PIK3R2, IKBKG, PTPN11, HLA-DRB1, WAS, INSR, AKT1, UBB, CBL, HLA-DQB1, PCNA, TGFBR1, PIK3CA, TNFRSF1A, ITCH, PTEN, ESR1, PIK3R1, HLA-DQA1, MALT1

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?RENAL HYPODYSPLASIA/APLASIA 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?MULTIPLE SYNOSTOSES SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LIEBENBERG SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, CATSHL SYNDROME, NEUROFIBROMATOSIS, TYPE 1, LOEYS-DIETZ SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, WAARDENBURG SYNDROME, TYPE 3, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LADD SYNDROME, METACARPAL 4-5 FUSION, SPLIT-HAND/FOOT MALFORMATION 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, METACHONDROMATOSIS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MYHRE SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, NOONAN SYNDROME 7, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LEOPARD SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SLC34A1, F2, PITX1, HSPB1, ACTB, RPL5, CYBA, AGT, CDK5, EDN1, UBE2A, IL17RD, UBB, NF1, RAB7A, PIK3CA, BMP4, PDGFRB, SF3B4, MUSK, ACTA1, ACE, F13A1, PLEC, ERBB3, IL10, MAP2K2, FGF9, PSMB8, IGF2, NOTCH1, MTOR, FGFR1, FGF17, ESR1, CBL, SMARCE1, STAT1, CRYAB, NCF2, EP300, FGF23, RPS6KA3, STAT3, DUSP6, BRAF, INS, NCF1, GJA1, SHOC2, SMAD4, VWF, PAX2, HLA-DRB1, DMD, HES7, FGF20, AKT1, CCND2, KRAS, CYBB, DDX58, TP53, NEFL, EZH2, EFNB1, PTEN, FGFR3, PAX3, DLX5, KIT, RUNX2, NRAS, NGF, PRKCD, HNRNPK, FBLN1, ACTG1, PIK3R2, NTRK1, PTPN11, TNFAIP3, VCP, FGF10, TGFB1, SPRY4, TSC1, PRKACA, INSR, AKT3, SOS1, KARS, FGFR2, FGF16, PDGFRA, L1CAM, PCNA, APC, HRAS, SMAD3, HSPG2, NEB, KL, PIK3R1

MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IS, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IH/S, CLEFT PALATE, ISOLATED, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), GM1-GANGLIOSIDOSIS, TYPE I, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS IVA, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS, MPS-III-A, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME

SGSH, ARSB, NAGLU, GLB1, GNS, GUSB, UBB, SMAD4, GALNS, NEU1, HGSNAT, IDUA, IDS, HYAL1

BARAITSER-WINTER SYNDROME 1, STAR SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CAMURATI-ENGELMANN DISEASE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 6, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, OTOPALATODIGITAL SYNDROME, TYPE II, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, BARTH SYNDROME, HEMOCHROMATOSIS TYPE 1, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, PITUITARY DEPENDENT HYPERCORTISOLISM, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPLIT-HAND/FOOT MALFORMATION 4, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, BLOOM SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, COLE-CARPENTER SYNDROME 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, WEAVER SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, COLE-CARPENTER SYNDROME 2, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, DYSAUTONOMIA, FAMILIAL, LEOPARD SYNDROME 3, OVARIAN DYSGENESIS 1, HYPER-IGE RECURRENT INFECTION SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, BARDET-BIEDL SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, SALLA DISEASE, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, EXOSTOSES, MULTIPLE, TYPE 1, PSEUDOHYPOPARATHYROIDISM IC, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, MANDIBULOACRAL DYSPLASIA, PETERS-PLUS SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, IMMUNODEFICIENCY 43, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, RENAL TUBULAR DYSGENESIS, WARSAW BREAKAGE SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ADULT SYNDROME, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, INCONTINENTIA PIGMENTI, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IV, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GM1-GANGLIOSIDOSIS, TYPE II, ?MYASTHENIC SYNDROME, CONGENITAL, 18, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, FEINGOLD SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, RUBINSTEIN-TAYBI SYNDROME, CORNELIA DE LANGE SYNDROME 4, MENTAL RETARDATION, X-LINKED 102, FRONTOMETAPHYSEAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, BOHRING-OPITZ SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, FILS SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, COFFIN-SIRIS SYNDROME 3, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, RHEUMATOID ARTHRITIS, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, CORNELIA DE LANGE SYNDROME 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, PRADER-WILLI SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, CHIME SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, OSSEOUS HETEROPLASIA, PROGRESSIVE, ?DIAMOND-BLACKFAN ANEMIA 11, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FACTOR X DEFICIENCY, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, LADD SYNDROME, HEMOPHILIA A, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4C, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, GM1-GANGLIOSIDOSIS, TYPE III, {PSORIASIS SUSCEPTIBILITY 1}, 3-M SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, KAHRIZI SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, [URIC ACID CONCENTRATION, SERUM, QTL1], KNOBLOCH SYNDROME 1, NESTOR-GUILLERMO PROGERIA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, OCULOECTODERMAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MYASTHENIC SYNDROME, CONGENITAL, 5, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, ALAGILLE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, WIEDEMANN-STEINER SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, EHLERS-DANLOS SYNDROME, TYPE VIIC, APERT SYNDROME, CHONDROSARCOMA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, BRACHYDACTYLY, TYPE A2, ?DIAMOND-BLACKFAN ANEMIA 12, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MARINESCO-SJOGREN SYNDROME, BERGER DISEASE, HYPERPARATHYROIDISM, NEONATAL, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, IMMUNODEFICIENCY 23, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, SECKEL SYNDROME 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, MALOUF SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, TATTON-BROWN-RAHMAN SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, GALACTOSIALIDOSIS, MENTAL RETARDATION, X-LINKED 19, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, NOONAN SYNDROME 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, KOSAKI OVERGROWTH SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, POLYCYSTIC LIVER DISEASE, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, METACHONDROMATOSIS, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, FACTOR VII DEFICIENCY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, VON WILLIBRAND DISEASE, TYPE 3, WOLCOTT-RALLISON SYNDROME, BARDET-BIEDL SYNDROME 2, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, GELEOPHYSIC DYSPLASIA 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, CAFFEY DISEASE, LATERAL MENINGOCELE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, HUTCHINSON-GILFORD PROGERIA, ACROMICRIC DYSPLASIA, 3MC SYNDROME 1, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CONGENITAL DISORDER OF DEGLYCOSYLATION, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, SIALURIA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, MARFAN LIPODYSTROPHY SYNDROME, MECKEL SYNDROME 4, WOLFRAM SYNDROME, HEART-HAND SYNDROME, SLOVENIAN TYPE, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, GELEOPHYSIC DYSPLASIA 1, MOHR-TRANEBJAERG SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ASPARAGINE SYNTHETASE DEFICIENCY, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, LEOPARD SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, RPL5, SEC23A, RPS26, TNFRSF1A, KIF5A, CDK5, HSPB1, FSHB, NGLY1, RAD21, TBCE, ACTB, GNAS, IKBKG, CTSA, EFTUD2, F2, B3GLCT, MGAT2, AGT, TP63, PMM2, MUC5B, MOGS, AGTR1, NOTCH3, CCT5, PTHLH, ASXL1, GGCX, EDN1, REN, SOX10, B2M, KISS1R, SLC17A5, ARSE, P4HB, ALG1, NR2F1, RAB7A, IKBKAP, FANCA, CDC6, RPL15, COL1A1, FAM58A, DES, ALG2, SOS1, PIGL, BMP4, CDC73, ABCG2, MBTPS2, PDGFRB, IGF1, WFS1, GNAI2, RBPJ, SF3B4, TIMM8A, ACTA1, HERC2, ACE, SRD5A3, ACAN, PIGO, KRAS, ERBB3, IL10, BRAF, LZTR1, CREBBP, SHOC2, FSHR, WRN, PIGT, RFT1, MYCN, SMARCB1, MAPT, CIITA, MTOR, EDNRA, ERCC2, TAF6, LMNA, COL1A2, COPA, ADAMTS10, EXOSC8, KIF5C, ESR1, CBL, PLOD3, DDX11, MAFB, SPINT2, MET, RPS19, IFNG, YARS, SSR4, RPS17, TGFBR1, EP300, GALNT3, HSPD1, CUL7, FKBP14, ADAMTS2, ALG3, CASR, TSHB, RB1, BBS2, FGF23, BIN1, RPS6KA3, ADAMTSL2, DNMT3A, INS, PAM16, ADAMTS18, PIGR, BANF1, DPAGT1, DDX3X, GJA1, TNPO3, SERPINC1, HSD17B10, RPS28, SMAD4, EXT1, VWF, CBS, HARS, CEP290, GOSR2, MC2R, GMPPB, ASNS, TAZ, PMPCA, CTSD, ASCC1, ARL6, BMP2, MFAP5, BRCA1, NDN, AKT1, TUBB3, SMARCA4, PRKDC, SDHD, FOXC2, PRKCD, TP53, UBE3A, EXOSC3, PGM3, SLC25A4, HNRNPK, EZH2, SMC1A, JAG1, DPM2, ZBTB16, HSPA9, GNE, PTEN, XRCC4, HAMP, NEU1, DPH1, BTK, ITGA6, STAT3, RUNX2, SUMF1, SERPINF2, VDR, GLE1, DPM1, FLNA, SMAD3, NGF, MASP1, CHEK2, FBLN1, ACTG1, NOTCH1, PIGA, SMC3, PRKCSH, TGFB1, IGF2, CENPE, TSHR, GLB1, COLQ, EIF2AK3, FGF10, SPTLC1, STAT1, ACVR1, F8, FXN, INSR, PTPN11, F7, POLE, BLM, DNMT1, FGFR2, PACS1, SEC24D, SEC63, PIGN, RPL11, CRYAB, RPL26, PCNA, TRH, FBN1, UCHL1, TBX6, APC, SNAP25, HRAS, PIGV, HLA-C, AP3B1, MPDU1, COL4A3BP, MYH11, MMP1, ATR, HSPG2, EXOC8, EXT2, SIL1, TINF2, F10, HFE, ALG13, ARSB, PIK3R1, MMP2

BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?MULTIPLE SYNOSTOSES SYNDROME 3, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, OCULOECTODERMAL SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, HYPOCHONDROPLASIA, CROUZON SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE XII, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, CATSHL SYNDROME, CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, MUENKE SYNDROME, JACKSON-WEISS SYNDROME, LADD SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, WAARDENBURG SYNDROME, TYPE 1, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, WAARDENBURG SYNDROME, TYPE 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?RENAL HYPODYSPLASIA/APLASIA 2, TRIGONOCEPHALY 1, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

NRAS, FGFR3, KRAS, PAX3, SP7, STAT1, FGF10, FGFR1, STAT3, FGF20, FGF17, AKT1, SOX2, FGFR2, PIK3CA, SOS1, HRAS, SMAD4, FGF23, FGF9, NGF, ESR1, PIK3R1

COLE-CARPENTER SYNDROME 2, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, LEUKODYSTROPHY, HYPOMYELINATING, 4, 3-M SYNDROME 1, BARAITSER-WINTER SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, GIANT AXONAL NEUROPATHY-1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, RAPADILINO SYNDROME, ?BARDET-BIEDL SYNDROME 11, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SINGLETON-MERTEN SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, CORNELIA DE LANGE SYNDROME 4, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, METACHONDROMATOSIS, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, HAY-WELLS SYNDROME, MULIBREY NANISM, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?DYSTONIA, JUVENILE-ONSET, DIAMOND-BLACKFAN ANEMIA 6, MYHRE SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PAGET DISEASE OF BONE 3, BARAITSER-WINTER SYNDROME 2, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ADULT SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, ANGELMAN SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ROTHMUND-THOMSON SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ESTROGEN RESISTANCE, RHEUMATOID ARTHRITIS, LIMB-MAMMARY SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, KAUFMAN OCULOCEREBROFACIAL SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DIAMOND-BLACKFAN ANEMIA 7, BALLER-GEROLD SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, TUBEROUS SCLEROSIS 2, SPLIT-HAND/FOOT MALFORMATION 4, PITT-HOPKINS SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CRANIOLENTICULOSUTURAL DYSPLASIA, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, MEIER-GORLIN SYNDROME 5, JOHANSON-BLIZZARD SYNDROME, IMMUNODEFICIENCY 43, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLEFT PALATE, ISOLATED, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

NCF1, NCF2, CYBA, SEC23A, CYBB, PRKCD, COPA, CHEK2, LZTR1, ACTG1, ACTB, UBE2A, PSMB8, SQSTM1, AKT1, CIITA, SEC24D, RPL5, DVL1, UBE3B, HLA-DRB1, TCF4, MET, INSR, HLA-B, UBR1, BRCA1, GAN, CDC6, TP53, RBCK1, HERC2, ESR1, IL10, B2M, ITGA6, DDX58, UCHL1, RPL11, IFNG, KIF1B, UBE3A, STAT1, LRSAM1, TRIM32, HSPD1, RECQL4, HLA-C, UBB, ZBTB16, RB1, UBA1, SMAD4, TP63, VCP, TRIM37, PTPN11, INS, RAD21, CUL7, ITCH

ADAMS-OLIVER SYNDROME 5, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, MUCOPOLYSACCHARIDOSIS IS, CAMURATI-ENGELMANN DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, GM1-GANGLIOSIDOSIS, TYPE I, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CZECH DYSPLASIA, OMODYSPLASIA 1, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS, MPS-III-A, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SMED STRUDWICK TYPE, EHLERS-DANLOS SYNDROME, TYPE 3, CHONDROSARCOMA, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, MUCOPOLYSACCHARIDOSIS II, STICKLER SYNDROME, TYPE I, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, AVASCULAR NECROSIS OF THE FEMORAL HEAD, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MUCOPOLYSACCHARIDOSIS IH/S, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, ACHONDROGENESIS IB, LEGG-CALVE-PERTHES DISEASE, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, EXOSTOSES, MULTIPLE, TYPE 1, EXOSTOSES, MULTIPLE, TYPE 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, LOEYS-DIETZ SYNDROME 1, KNIEST DYSPLASIA, LOEYS-DIETZ SYNDROME 4, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS IVA, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, PROTEUS SYNDROME, SOMATIC

CHST3, TGFBR1, TGFB2, SLC26A2, NOTCH1, EXT1, GPC3, B3GAT3, TGFB1, CHST14, HYAL1, RPL5, ACAN, GUSB, B4GALT7, IDS, HS6ST1, GLB1, HEXB, AKT1, GPC6, IDUA, SDHD, HGSNAT, NAGLU, NEU1, ARSB, PAPSS2, MARS2, DSE, CHSY1, GALNS, SGSH, LRP2, DAG1, GNS, B3GALT6, HSPG2, EXT2, COL2A1, INS

CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, CLEFT PALATE, ISOLATED, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

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

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, BASAL CELL NEVUS SYNDROME, AYME-GRIPP SYNDROME, CULLER-JONES SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAFFEY DISEASE, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IV, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, MICROPHTHALMIA, SYNDROMIC 6, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, FOCAL DERMAL HYPOPLASIA, CHONDRODYSPLASIA, BLOMSTRAND TYPE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, PAPILLORENAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, FRONTOMETAPHYSEAL DYSPLASIA, ?TETRA-AMELIA SYNDROME, BRACHYDACTYLY, TYPE A2, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, CLOVE SYNDROME, SOMATIC, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, EIKEN SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EXUDATIVE VITREORETINOPATHY 1, OSTEOGENESIS IMPERFECTA, TYPE XV, ACROCAPITOFEMORAL DYSPLASIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, [BONE MINERAL DENSITY VARIABILITY 1], PALLISTER-HALL SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EXUDATIVE VITREORETINOPATHY 4, POLYCYSTIC LIVER DISEASE, OSSEOUS HETEROPLASIA, PROGRESSIVE, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ROBINOW SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, HYPERPARATHYROIDISM, NEONATAL, BRACHYDACTYLY, TYPE A1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BRACHYDACTYLY, TYPE B1, VAN BUCHEM DISEASE, TYPE 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PROTEUS SYNDROME, SOMATIC

PTCH1, GNB4, LRP5, WNT5A, WNT7A, COL1A1, PTEN, DVL3, WNT3, GLI3, PAX2, PTH1R, FLNA, CASR, BMP2, OTX2, PTHLH, AKT1, CCND2, GNAI2, PTCH2, RUNX2, WNT1, GNAS, IHH, PIK3CA, FZD4, ROR2, BMP4, GSC, CALCR, MAF, MAFB, LRP6, PORCN, GLI2, WNT10B

ADAMS-OLIVER SYNDROME 5, PAPILLORENAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, OSTEOGLOPHONIC DYSPLASIA, THANATOPHORIC DYSPLASIA, TYPE II, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?MULTIPLE SYNOSTOSES SYNDROME 3, CAMURATI-ENGELMANN DISEASE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, 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, ACHONDROPLASIA, HYPOCHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, METACHONDROMATOSIS, CROUZON SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HARTSFIELD SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, SHORT SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CATSHL SYNDROME, RENAL TUBULAR DYSGENESIS, 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, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MUENKE SYNDROME, JACKSON-WEISS SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, TUBEROUS SCLEROSIS 2, SPLIT-HAND/FOOT MALFORMATION 4, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, TRIGONOCEPHALY 1, COFFIN-LOWRY SYNDROME, MENTAL RETARDATION, X-LINKED 19, LIMB-MAMMARY SYNDROME, LEOPARD SYNDROME 1, HAY-WELLS SYNDROME, LADD SYNDROME, METACARPAL 4-5 FUSION, ?RENAL HYPODYSPLASIA/APLASIA 2, CLEFT PALATE, ISOLATED, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, FGF23, KL, ERBB3, FGF9, NOTCH1, FGF16, PIK3R2, TGFB1, PAX2, AGT, MTOR, FGFR1, ESR1, INSR, PTPN11, FGF17, AKT1, CCND2, FGFR2, SMARCE1, AKT3, FGF20, PDGFRA, KIT, PIK3CA, SOS1, HRAS, BMP4, T, PDGFRB, FGFR3, RPS6KA3, FGF10, TP63, INS, PTEN, PIK3R1

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CATSHL SYNDROME, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ?MULTIPLE SYNOSTOSES SYNDROME 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, WAARDENBURG SYNDROME, TYPE 3, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, METACARPAL 4-5 FUSION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS, TYPE 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, METACHONDROMATOSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MYHRE SYNDROME, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, NCF1, ACTB, F2, PITX1, NGF, GJA1, ERBB3, ACE, HNRNPK, MAP2K2, SMAD4, ACTG1, NOTCH1, PLEC, UBE2A, PSMB8, FGF16, IGF2, TGFB1, VWF, PAX2, RPS6KA3, HLA-DRB1, FGF9, PDGFRB, AGT, NTRK1, DMD, SPRY4, ESR1, HES7, PTPN11, FGF17, DUSP6, AKT1, CCND2, KL, IL17RD, SOS1, CBL, FGFR1, SMARCE1, FGF23, VCP, IL10, HSPB1, KARS, PRKCD, TNFAIP3, NEFL, L1CAM, KIT, PCNA, RAB7A, SHOC2, PIK3CA, TP53, EDN1, HRAS, BMP4, UBB, PDGFRA, KRAS, EFNB1, MUSK, FGFR3, PAX3, NRAS, HSPG2, FGF10, STAT3, FGFR2, PIK3R1, BRAF, INS, FGF20, RUNX2, EZH2, SF3B4, NF1, FBLN1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, CZECH DYSPLASIA, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ?OSTEOGENESIS IMPERFECTA, TYPE X, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, MULTIPLE SYNOSTOSES SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE VIII, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?STEEL SYNDROME, BRUCK SYNDROME 2, IMMUNODEFICIENCY 43, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, OSTEOGENESIS IMPERFECTA, TYPE IV, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FUHRMANN SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, TARSAL-CARPAL COALITION SYNDROME, BETHLEM MYOPATHY 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SYMPHALANGISM, PROXIMAL, 1A, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, COLE-CARPENTER SYNDROME 1, CAFFEY DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, KNOBLOCH SYNDROME 1, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIC, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, OSTEOGENESIS IMPERFECTA, TYPE XIII, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, OSTEOGENESIS IMPERFECTA, TYPE VII, PCWH SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BRACHYDACTYLY, TYPE B2, 46,XX SEX REVERSAL, TYPE 2, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, EHLERS-DANLOS SYNDROME, TYPE VI, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, STICKLER SYNDROME, TYPE III, LEGG-CALVE-PERTHES DISEASE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, PROTEUS SYNDROME, SOMATIC, MARSHALL SYNDROME

SOX9, PLEC, COL27A1, ACAN, NGF, TP53, WNT7A, COL1A1, SERPINH1, COL5A2, ITGB4, P4HB, WNT5A, CIITA, MMP2, COL3A1, COL17A1, CRTAP, LAMC2, COL6A1, COL11A1, TGFB1, LAMB3, PLOD3, P3H1, COL5A1, NOG, BMP2, COL9A2, COL6A3, AKT1, FBLN5, SOX10, PLOD1, B2M, COL18A1, COL2A1, DVL1, MMP13, DST, PPIB, BMP4, PLOD2, COL10A1, BMP1, PIK3CA, COL9A1, COL6A2, ADAMTS2, COL1A2, LRP2, COL13A1, SMAD3, LAMA3, STAT3, DDR2, PIK3R1, ITGA6, COL9A3, INS, RUNX2, COL11A2, COL7A1

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, PSEUDOPSEUDOHYPOPARATHYROIDISM, IMMUNODEFICIENCY 43, ?RENAL HYPODYSPLASIA/APLASIA 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?MULTIPLE SYNOSTOSES SYNDROME 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LIEBENBERG SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CATSHL SYNDROME, NEUROFIBROMATOSIS, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LADD SYNDROME, METACARPAL 4-5 FUSION, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERTENSION AND BRACHYDACTYLY SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MUENKE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, SINGLETON-MERTEN SYNDROME 2, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COFFIN-SIRIS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MYOPATHY, DISTAL, TATEYAMA TYPE, KOSAKI OVERGROWTH SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, METACHONDROMATOSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SHORT SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, PAGET DISEASE OF BONE 3, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LEOPARD SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, F2, PITX1, HSPB1, NCF1, ACTB, GNAS, RPL5, AGT, PRKAR1A, MUSK, EDN1, UBE2A, IL17RD, B2M, RAB7A, PIK3CA, BMP4, PDGFRB, ADCY6, GNAI2, DYNC2H1, SF3B4, NF1, ACTA1, ACE, NF2, PLEC, ERBB3, IL10, MAP2K2, FGF9, FIBP, PSMB8, IGF2, SQSTM1, NOTCH1, MTOR, FGFR1, FGF17, CBL, SMARCE1, PDE3A, EP300, T, RB1, FGF23, RPS6KA3, STAT3, DUSP6, BRAF, INS, CAV3, GJA1, SHOC2, SMAD4, VWF, PAX2, HLA-DRB1, DMD, HES7, FGF20, AKT1, CCND2, KRAS, DDX58, TP53, UBE3A, NEFL, SLC25A4, EZH2, EFNB1, PTEN, FGFR3, PAX3, KIT, RUNX2, NRAS, NGF, PRKCD, UBB, HNRNPK, FBLN1, ACTG1, PIK3R2, NTRK1, MMP2, PTPN11, TNFAIP3, VCP, FGF10, TGFB1, SPRY4, ESR1, PRKACA, INSR, AKT3, SOS1, KARS, FGFR2, FGF16, PDGFRA, L1CAM, PCNA, CLASP1, CTLA4, HRAS, HSPG2, TSC1, KL, PIK3R1

HARTSFIELD SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, ?MULTIPLE SYNOSTOSES SYNDROME 3, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ACHONDROPLASIA, OCULOECTODERMAL SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, METACHONDROMATOSIS, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CATSHL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, OSTEOGLOPHONIC DYSPLASIA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MUENKE SYNDROME, JACKSON-WEISS SYNDROME, LADD SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, TRIGONOCEPHALY 1, LEOPARD SYNDROME 1, METACARPAL 4-5 FUSION, ?RENAL HYPODYSPLASIA/APLASIA 2, SADDAN, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOCHONDROPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

NRAS, FGFR1, FGF16, FGF10, FGFR3, KRAS, FGF23, FGF20, FGF9, PTPN11, FGF17, SOS1, HRAS

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CATSHL SYNDROME, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ?MULTIPLE SYNOSTOSES SYNDROME 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LIEBENBERG SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, WAARDENBURG SYNDROME, TYPE 3, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, METACARPAL 4-5 FUSION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS, TYPE 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, METACHONDROMATOSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MYHRE SYNDROME, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, NCF1, EZH2, F2, SPRY4, NGF, ERBB3, ACE, MAP2K2, SMAD4, ACTG1, NOTCH1, PLEC, UBE2A, PSMB8, FGF16, IGF2, TGFB1, VWF, PAX2, RPS6KA3, HLA-DRB1, FGFR2, VCP, AGT, NTRK1, DMD, PITX1, ESR1, FGF23, TNFAIP3, INSR, BMP4, FGF17, AKT1, SHOC2, CCND2, KRAS, IL17RD, SOS1, CBL, FGFR1, SMARCE1, BRAF, DDX58, IL10, HSPB1, KARS, PRKCD, NF1, NEFL, L1CAM, KIT, PCNA, PAX3, HNRNPK, PTPN11, FGFR3, PIK3CA, TP53, EDN1, HRAS, GJA1, UBB, PDGFRA, EFNB1, ACTB, PDGFRB, HES7, RAB7A, FGF9, NRAS, HSPG2, FGF10, STAT3, DUSP6, PIK3R1, KL, INS, FGF20, RUNX2, SF3B4, MUSK, FBLN1

BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, APERT SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ?MULTIPLE SYNOSTOSES SYNDROME 3, CROUZON SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, MICROPHTHALMIA, SYNDROMIC 6, MUENKE SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, JACKSON-WEISS SYNDROME, LADD SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AURICULOCONDYLAR SYNDROME 3, PSEUDOHYPOPARATHYROIDISM IA, TRIGONOCEPHALY 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, CATSHL SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, METACARPAL 4-5 FUSION, ?RENAL HYPODYSPLASIA/APLASIA 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SADDAN, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

CAV3, EDN1, FGF23, GJA1, PRKCD, FGF9, GNAS, FGF10, FGFR1, PRKACA, PRKAR1A, FGF20, FGF17, SOS1, FGFR2, FGF16, FIBP, PDE3A, AKT1, HRAS, BMP4, FGFR3, ADCY6, HSPG2, ESR1, DUSP6, GNAI2

ADAMS-OLIVER SYNDROME 5, CLOVE SYNDROME, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, THANATOPHORIC DYSPLASIA, TYPE I, PAPILLORENAL SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OSTEOGLOPHONIC DYSPLASIA, CAMURATI-ENGELMANN DISEASE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, 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, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, ACHONDROPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, SHORT SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROPHTHALMIA, SYNDROMIC 6, METACHONDROMATOSIS, ?MULTIPLE SYNOSTOSES SYNDROME 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HARTSFIELD SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CATSHL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, RENAL TUBULAR DYSGENESIS, ADULT SYNDROME, COFFIN-SIRIS SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CROUZON SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MUENKE SYNDROME, JACKSON-WEISS SYNDROME, LADD SYNDROME, SMITH-KINGSMORE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, SPLIT-HAND/FOOT MALFORMATION 4, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, TRIGONOCEPHALY 1, LEOPARD SYNDROME 1, COFFIN-LOWRY SYNDROME, LIMB-MAMMARY SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, KOSAKI OVERGROWTH SYNDROME, HAY-WELLS SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, METACARPAL 4-5 FUSION, ?RENAL HYPODYSPLASIA/APLASIA 2, CLEFT PALATE, ISOLATED, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MENTAL RETARDATION, X-LINKED 19, PROTEUS SYNDROME, SOMATIC

TSC2, FGF23, NGF, ERBB3, FGF9, NOTCH1, FGF16, PIK3R2, NTRK1, PAX2, AGT, TGFB1, MTOR, FGFR1, ESR1, INSR, PTPN11, FGF17, EDN1, CCND2, KL, SOS1, FGFR2, SMARCE1, AKT3, FGF20, PDGFRA, KIT, PIK3CA, AKT1, HRAS, BMP4, T, PDGFRB, FGFR3, RPS6KA3, FGF10, TP63, INS, PTEN, PIK3R1

BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HARTSFIELD SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, NOONAN SYNDROME 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, ACHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, LADD SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ?MULTIPLE SYNOSTOSES SYNDROME 3, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, CATSHL SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, MUENKE SYNDROME, JACKSON-WEISS SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, APERT SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AURICULOCONDYLAR SYNDROME 3, PSEUDOHYPOPARATHYROIDISM IA, TRIGONOCEPHALY 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?MYOPATHY, SCAPULOHUMEROPERONEAL, METACARPAL 4-5 FUSION, ?RENAL HYPODYSPLASIA/APLASIA 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SADDAN, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

ACTA1, CAV3, EDN1, FGF23, GJA1, PRKCD, FGF9, GNAS, FGFR1, PRKACA, PRKAR1A, FGF17, SOS1, FGFR2, FGF16, FIBP, PDE3A, AKT1, FGF20, BMP4, FGFR3, ADCY6, DUSP6, GNAI2

BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HARTSFIELD SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, NOONAN SYNDROME 4, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ?MULTIPLE SYNOSTOSES SYNDROME 3, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MICROPHTHALMIA, SYNDROMIC 6, JACKSON-WEISS SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, APERT SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AURICULOCONDYLAR SYNDROME 3, PSEUDOHYPOPARATHYROIDISM IA, TRIGONOCEPHALY 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, MYOPATHY, DISTAL, TATEYAMA TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LADD SYNDROME, METACARPAL 4-5 FUSION, ?RENAL HYPODYSPLASIA/APLASIA 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

CAV3, EDN1, GJA1, PRKCD, FGF9, GNAS, FGFR1, PRKACA, PRKAR1A, FGF17, SOS1, FGFR2, FGF16, FIBP, PDE3A, AKT1, FGF20, BMP4, FGF23, ADCY6, DUSP6, GNAI2

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, COLE-CARPENTER SYNDROME 2, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, LARON DWARFISM, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, MUCKLE-WELLS SYNDROME, RENAL TUBULAR DYSGENESIS, HAIM-MUNK SYNDROME, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, PSEUDOHYPOPARATHYROIDISM IC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, FRANK-TER HAAR SYNDROME, ANGELMAN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, PRADER-WILLI SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HOLT-ORAM SYNDROME, NEUROFIBROMATOSIS, TYPE 1, BRACHYDACTYLY, TYPE A1, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, EMBERGER SYNDROME, IMMUNODEFICIENCY 12, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NESTOR-GUILLERMO PROGERIA SYNDROME, NAIL-PATELLA SYNDROME, BRACHYDACTYLY, TYPE E2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, NOONAN SYNDROME 4, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, COWDEN SYNDROME 7, MUENKE SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 1, KEUTEL SYNDROME, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, FRAGILE X SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, C1R/C1S DEFICIENCY, COMBINED, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, IMAGE SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, METACHONDROMATOSIS, HAY-WELLS SYNDROME, LATERAL MENINGOCELE SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SMED STRUDWICK TYPE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ATELOSTEOGENESIS, TYPE I, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CAFFEY DISEASE, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CEREBROOCULOFACIOSKELETAL SYNDROME 4, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, NEMALINE MYOPATHY 5, AMISH TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, PYCNODYSOSTOSIS, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEIER-GORLIN SYNDROME 5, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, ?BARDET-BIEDL SYNDROME 11, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, CLEFT PALATE, ISOLATED, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, C SYNDROME, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, MULIBREY NANISM, CINCA SYNDROME, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, HEMOPHILIA A, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, TARSAL-CARPAL COALITION SYNDROME, OPSISMODYSPLASIA, MYOPATHY, TUBULAR AGGREGATE, 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), JOHANSON-BLIZZARD SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, METACARPAL 4-5 FUSION, SYMPHALANGISM, PROXIMAL, 1A, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, ?INFANTILE LIVER FAILURE SYNDROME 1, EVEN-PLUS SYNDROME, KNOBLOCH SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, GALACTOSIALIDOSIS, ?OSTEOGENESIS IMPERFECTA, TYPE XII, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DUCHENNE MUSCULAR DYSTROPHY, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, ALAGILLE SYNDROME, HYPERTENSION AND BRACHYDACTYLY SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ESTROGEN RESISTANCE, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, HYPOCHONDROPLASIA, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, POLYCYSTIC LIVER DISEASE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), COMPLEMENT FACTOR I DEFICIENCY, 3MC SYNDROME 1, AVASCULAR NECROSIS OF THE FEMORAL HEAD, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, BOWEN-CONRADI SYNDROME, LEGG-CALVE-PERTHES DISEASE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEOPARD SYNDROME 1, BASAL CELL NEVUS SYNDROME, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, KAUFMAN OCULOCEREBROFACIAL SYNDROME, DEJERINE-SOTTAS DISEASE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, GIANT AXONAL NEUROPATHY-1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, LEPRECHAUNISM, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, PHELAN-MCDERMID SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FANCONI RENOTUBULAR SYNDROME 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, HYPOPHOSPHATEMIC RICKETS, AR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BRACHYDACTYLY, TYPE A1, D, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, 3-M SYNDROME 1, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, DUANE-RADIAL RAY SYNDROME, CEREBELLOFACIODENTAL SYNDROME, FACTOR XIIIA DEFICIENCY, NASU-HAKOLA DISEASE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MEIER-GORLIN SYNDROME 4, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, LOEYS-DIETZ SYNDROME 1, KOSAKI OVERGROWTH SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE B2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, FAMILIAL MEDITERRANEAN FEVER, AD, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ?MICROPHTHALMIA, SYNDROMIC 13, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, AICARDI-GOUTIERES SYNDROME 5, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, LADD SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CEREBROCOSTOMANDIBULAR SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, MYOPATHY, TUBULAR AGGREGATE, 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADULT SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, PITUITARY DEPENDENT HYPERCORTISOLISM, CATSHL SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, ROTHMUND-THOMSON SYNDROME, JACKSON-WEISS SYNDROME, APERT SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, IVIC SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, TENORIO SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, TROYER SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SECKEL SYNDROME 5, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, SED CONGENITA, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, HYPERPARATHYROIDISM, NEONATAL, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP L, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOCOSTAL DYSOSTOSIS 5, VON WILLIBRAND DISEASE, TYPE 3, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MECKEL SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, BERGER DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, ATELOSTEOGENESIS, TYPE III, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2

TSC2, EDNRA, HSPB1, GNAS, CIITA, RPL5, FTL, PHEX, UBA1, CDC6, IL17RD, B2M, NOG, EGR2, RAB7A, DNM2, TYROBP, TGFBR2, CREBBP, MAFB, DYNC2H1, DMP1, NF2, F13A1, KL, ERBB3, IRF5, SQSTM1, THRA, IKBKG, MTOR, FGF17, CBL, SMARCE1, TNNT1, AP1S2, HSPD1, T, TP63, DUSP6, DEAF1, GATA1, CAV3, BANF1, TGFBR1, NRAS, SUFU, SMAD4, CTSK, CEP290, C1R, CTDP1, CTSD, TUBB, AKT1, INPPL1, AIP, MASP1, UBE3A, ARID1B, EZH2, ZBTB16, HSPA9, EFNB1, PEX5, IL1RN, MUSK, NOD2, CUL4B, TNFSF11, TNFRSF11A, HINT1, HNRNPK, PIK3R2, SEC23A, PTPN11, SPG7, SPRY4, SPATA5, HLA-B, CENPE, HMGB3, CTSC, SALL4, FANCL, HLA-C, ALB, TSC1, PIGR, TRIM32, CYBA, TREX1, WNT5A, SEC24D, MMP1, ACTB, COL1A2, UBB, CD244, CDT1, PCNT, MEFV, USP8, CAPN3, GNAI2, CUL7, SF3B4, SHOC2, MMP2, MAP2K2, FGF9, ADCY6, NME1, SP7, NOTCH1, MYCN, PITX1, UBR1, KIF5C, ESR1, CARD9, SFTPA2, NLRC4, FANCA, RB1, FGF23, STAT3, BRAF, DMD, MALT1, NCF1, STIM1, UCHL1, ALPL, UBE2A, SFTPA1, IGF1, TREM2, CBS, GHR, KLC2, GMPPB, UBE3B, BMP2, NDN, TNFRSF11B, PLEC, VDR, FGFR1, FIBP, WAS, KARS, HLA-DQB1, PSTPIP1, NF1, ITGA6, DYNC1H1, DDX41, CYBB, PAX3, ACTG1, PRKCSH, NTRK1, DVL1, EMG1, F8, TP53, BLM, FCGR2B, CRYAB, PCNA, CTLA4, MGP, SMAD3, HSPG2, NEB, DDX58, SLC34A1, F2, SALL1, RAD21, IFIH1, IGBP1, CENPF, CTSA, AP2S1, AGT, CDK5, KDM1A, RECQL4, EIF4A3, FRZB, IL10, FMR1, NDRG1, ITCH, COL10A1, PIK3CA, JAG1, HNRNPA1, COL2A1, RBPJ, MYH2, ACTA1, GRIP1, SMARCA4, DSP, LZTR1, PSMB8, IGF2, NOTCH2, MAPT, GATA2, KIF5A, MMP13, CEP152, ORAI1, MET, LRSAM1, KIT, AP4M1, SAMHD1, TMEM173, TSHR, RPS6KA3, ACVR1, VCP, INS, ABCC8, FCGR2A, DDX3X, SMPD1, HSD17B10, PAX2, LMX1B, STAT1, SNRPB, RAPSN, KIF1B, TNFRSF1A, TBX5, PTHLH, TUBB3, BIN1, FOXC2, IHH, PTEN, FGFR3, FBLN1, SLC9A3R1, SSR4, SMARCB1, PRKCD, CHEK2, MED25, TNFAIP3, AP3B1, FGF10, TGFB1, ERCC4, TFG, TCF4, SOS1, RBCK1, HERC2, FGF16, COL18A1, GRM1, HRAS, SFTPC, IRF6, TRIM37, FLNB, CD96, COL1A1, RAG1, PIGT, ERCC1, KIF22, PRKAR1A, GAN, EDN1, BTK, CLASP1, TGM1, BMP4, ERCC2, PDGFRB, HLA-DQA1, ACE, DVL3, KRAS, WRN, GCH1, SPG20, COPA, IFNG, HLA-DRB1, PDE3A, NCF2, EP300, TAF1, NOTCH3, NLRP1, SEC23B, LARS, RET, GJA1, SMARCA2, VWF, COL17A1, CASR, APC, GCK, HES7, TRIM2, CCND2, PRKDC, BRCA1, IGF1R, CFI, SEC63, NEFL, SLC25A4, CDKN1C, RAG2, SHANK3, DLX5, RUNX2, GLE1, FLNA, NGF, BMPR1B, BRF1, NLRP3, PRKACA, INSR, AKT3, FGFR2, PLCG2, RPL11, PDGFRA, L1CAM, PLA2G6, TBX6, FGF20, RNF125, MYH11, SH3PXD2B, ATR, HFE, PIK3R1

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CATSHL SYNDROME, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ?MULTIPLE SYNOSTOSES SYNDROME 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, WAARDENBURG SYNDROME, TYPE 3, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, METACARPAL 4-5 FUSION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS, TYPE 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, METACHONDROMATOSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MYHRE SYNDROME, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, NCF1, ACTB, F2, PITX1, NGF, GJA1, ERBB3, ACE, HNRNPK, MAP2K2, SMAD4, ACTG1, NOTCH1, PLEC, UBE2A, PSMB8, FGF16, IGF2, TGFB1, VWF, PAX2, RPS6KA3, HLA-DRB1, FGF9, PDGFRB, AGT, NTRK1, DMD, SPRY4, ESR1, HES7, PTPN11, FGF17, DUSP6, AKT1, CCND2, KL, IL17RD, SOS1, CBL, FGFR1, SMARCE1, FGF23, VCP, IL10, HSPB1, KARS, PRKCD, TNFAIP3, NEFL, L1CAM, KIT, PCNA, RAB7A, SHOC2, PIK3CA, TP53, EDN1, HRAS, BMP4, UBB, PDGFRA, KRAS, EFNB1, MUSK, FGFR3, PAX3, NRAS, HSPG2, FGF10, STAT3, FGFR2, PIK3R1, BRAF, INS, FGF20, RUNX2, EZH2, SF3B4, NF1, FBLN1

ADAMS-OLIVER SYNDROME 5, PAPILLORENAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, OSTEOGLOPHONIC DYSPLASIA, THANATOPHORIC DYSPLASIA, TYPE II, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?MULTIPLE SYNOSTOSES SYNDROME 3, CAMURATI-ENGELMANN DISEASE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, 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, ACHONDROPLASIA, HYPOCHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, METACHONDROMATOSIS, CROUZON SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HARTSFIELD SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, SHORT SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CATSHL SYNDROME, RENAL TUBULAR DYSGENESIS, 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, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MUENKE SYNDROME, JACKSON-WEISS SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, TUBEROUS SCLEROSIS 2, SPLIT-HAND/FOOT MALFORMATION 4, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, TRIGONOCEPHALY 1, COFFIN-LOWRY SYNDROME, MENTAL RETARDATION, X-LINKED 19, LIMB-MAMMARY SYNDROME, LEOPARD SYNDROME 1, HAY-WELLS SYNDROME, LADD SYNDROME, METACARPAL 4-5 FUSION, ?RENAL HYPODYSPLASIA/APLASIA 2, CLEFT PALATE, ISOLATED, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, FGF23, KL, ERBB3, FGF9, NOTCH1, FGF16, PIK3R2, TGFB1, PAX2, AGT, MTOR, FGFR1, ESR1, INSR, PTPN11, FGF17, AKT1, CCND2, FGFR2, SMARCE1, AKT3, FGF20, PDGFRA, KIT, PIK3CA, SOS1, HRAS, BMP4, T, PDGFRB, FGFR3, RPS6KA3, FGF10, TP63, INS, PTEN, PIK3R1

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MYOPATHY, DISTAL, TATEYAMA TYPE, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, PSEUDOPSEUDOHYPOPARATHYROIDISM, IMMUNODEFICIENCY 43, ?RENAL HYPODYSPLASIA/APLASIA 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?MULTIPLE SYNOSTOSES SYNDROME 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LIEBENBERG SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CATSHL SYNDROME, NEUROFIBROMATOSIS, TYPE 1, LOEYS-DIETZ SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LADD SYNDROME, METACARPAL 4-5 FUSION, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERTENSION AND BRACHYDACTYLY SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MUENKE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, METACHONDROMATOSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SHORT SYNDROME, PAGET DISEASE OF BONE 3, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LEOPARD SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, F2, PITX1, HSPB1, NCF1, ACTB, GNAS, RPL5, AGT, PRKAR1A, MUSK, EDN1, UBE2A, IL17RD, B2M, RAB7A, PIK3CA, BMP4, PDGFRB, ADCY6, GNAI2, DYNC2H1, SF3B4, NF1, ACTA1, ACE, NF2, PLEC, ERBB3, IL10, MAP2K2, FGF9, FIBP, PSMB8, IGF2, SQSTM1, NOTCH1, MTOR, FGFR1, FGF17, ESR1, CBL, SMARCE1, STAT1, PDE3A, EP300, T, RB1, FGF23, RPS6KA3, STAT3, DUSP6, BRAF, INS, CAV3, GJA1, SHOC2, SMAD4, VWF, PAX2, HLA-DRB1, APC, DMD, HES7, FGF20, AKT1, CCND2, KRAS, DDX58, TP53, UBE3A, NEFL, SLC25A4, EZH2, EFNB1, PTEN, FGFR3, PAX3, KIT, RUNX2, NRAS, NGF, PRKCD, UBB, HNRNPK, FBLN1, ACTG1, PIK3R2, NTRK1, MMP2, PTPN11, TNFAIP3, VCP, FGF10, TGFB1, SPRY4, WAS, PRKACA, INSR, AKT3, SOS1, KARS, FGFR2, FGF16, PDGFRA, L1CAM, PCNA, CLASP1, CTLA4, HRAS, SMAD3, HSPG2, TSC1, KL, PIK3R1

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, EXOSTOSES, MULTIPLE, TYPE 2, BARAITSER-WINTER SYNDROME 1, KAHRIZI SYNDROME, CAFFEY DISEASE, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE IV, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OMODYSPLASIA 1, EXOSTOSES, MULTIPLE, TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, OSTEOGENESIS IMPERFECTA, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, EHLERS-DANLOS SYNDROME, TYPE 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, ?DYSTONIA, JUVENILE-ONSET, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CHONDROSARCOMA, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, 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, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, ACHONDROGENESIS IB, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, 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, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ

CHST3, PIGA, ACAN, MOGS, GPC6, COL1A1, EXT1, DPAGT1, B3GAT3, TGFB1, CHST14, NOTCH1, DAG1, B4GALT7, PMM2, ALG3, MGAT2, COL1A2, SLC26A2, SDHD, DPM1, ALG1, NEU1, PAPSS2, GPC3, ALG2, CHSY1, DPM2, MPDU1, GNE, ALG13, ACTB, RFT1, HSPG2, EXT2, SRD5A3

{PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 43, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHEUMATOID ARTHRITIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}

INS, HLA-C, HLA-DRB1, HLA-B, B2M

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CATSHL SYNDROME, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ?MULTIPLE SYNOSTOSES SYNDROME 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, WAARDENBURG SYNDROME, TYPE 3, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, METACARPAL 4-5 FUSION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS, TYPE 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, METACHONDROMATOSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MYHRE SYNDROME, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, NCF1, ACTB, F2, PITX1, NGF, GJA1, ERBB3, ACE, HNRNPK, MAP2K2, SMAD4, ACTG1, NOTCH1, PLEC, UBE2A, PSMB8, FGF16, IGF2, TGFB1, VWF, PAX2, RPS6KA3, HLA-DRB1, FGF9, PDGFRB, AGT, NTRK1, DMD, SPRY4, ESR1, HES7, PTPN11, FGF17, DUSP6, AKT1, CCND2, KL, IL17RD, SOS1, CBL, FGFR1, SMARCE1, FGF23, VCP, IL10, HSPB1, KARS, PRKCD, TNFAIP3, NEFL, L1CAM, KIT, PCNA, RAB7A, SHOC2, PIK3CA, TP53, EDN1, HRAS, BMP4, UBB, PDGFRA, KRAS, EFNB1, MUSK, FGFR3, PAX3, NRAS, HSPG2, FGF10, STAT3, FGFR2, PIK3R1, BRAF, INS, FGF20, RUNX2, EZH2, SF3B4, NF1, FBLN1

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CATSHL SYNDROME, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ?MULTIPLE SYNOSTOSES SYNDROME 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, WAARDENBURG SYNDROME, TYPE 3, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, METACARPAL 4-5 FUSION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS, TYPE 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, METACHONDROMATOSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MYHRE SYNDROME, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, NCF1, NF2, ACTB, F2, PITX1, NGF, GJA1, ERBB3, ACE, HNRNPK, MAP2K2, SMAD4, ACTG1, NOTCH1, PLEC, UBE2A, PSMB8, FGF16, IGF2, TGFB1, VWF, PAX2, RPS6KA3, HLA-DRB1, FGF9, PDGFRB, AGT, NTRK1, DMD, SPRY4, ESR1, HES7, PTPN11, FGF17, DUSP6, AKT1, CCND2, KL, IL17RD, SOS1, CBL, FGFR1, SMARCE1, FGF23, VCP, IL10, HSPB1, KARS, PRKCD, TNFAIP3, NEFL, L1CAM, KIT, PCNA, RAB7A, SHOC2, PIK3CA, TP53, EDN1, HRAS, BMP4, UBB, PDGFRA, KRAS, EFNB1, MUSK, FGFR3, PAX3, NRAS, HSPG2, FGF10, STAT3, FGFR2, PIK3R1, BRAF, INS, FGF20, RUNX2, EZH2, SF3B4, NF1, FBLN1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 5, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CAMURATI-ENGELMANN DISEASE, LOEYS-DIETZ SYNDROME 5, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CZECH DYSPLASIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, {OSTEOARTHRITIS SUSCEPTIBILITY 3}, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE II, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, CAFFEY DISEASE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SMED STRUDWICK TYPE, EHLERS-DANLOS SYNDROME, TYPE 3, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, KNOBLOCH SYNDROME 1, ?OSTEOGENESIS IMPERFECTA, TYPE X, RENAL ADYSPLASIA, SED CONGENITA, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, KNIEST DYSPLASIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPONDYLOPERIPHERAL DYSPLASIA, WERNER SYNDROME, FUHRMANN SYNDROME, ?MYOSCLEROSIS, CONGENITAL, STICKLER SYNDROME, TYPE I, CENANI-LENZ SYNDACTYLY SYNDROME, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, VESICOURETERAL REFLUX 8, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, MICROPHTHALMIA, SYNDROMIC 6, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, SCLEROSTEOSIS 2, OSTEOGENESIS IMPERFECTA, TYPE IV, HYPOPHOSPHATEMIC RICKETS, AR, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PSEUDOACHONDROPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, LEGG-CALVE-PERTHES DISEASE, BETHLEM MYOPATHY 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PCWH SYNDROME, MASA SYNDROME, CRASH SYNDROME, 46,XX SEX REVERSAL, TYPE 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XVII, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, EHLERS-DANLOS SYNDROME, TYPE IV, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4C, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1

SOX9, TGFB2, ITGA8, WNT7A, COL1A1, IGF1, COL6A2, WRN, TGFB1, LAMA2, COL3A1, TGFB3, ACAN, DAG1, COL6A1, AGT, COL5A1, BMP2, COL5A2, COL9A3, COL9A2, LRP4, SOX10, COL6A3, COMP, SPARC, L1CAM, COL18A1, COL1A2, SERPINH1, ASPN, BMP4, ITGA7, DMP1, MUSK, ALB, LAMA3, MATN3, COL7A1, COL2A1, INS, TNXB, COL9A1

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CATSHL SYNDROME, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ?MULTIPLE SYNOSTOSES SYNDROME 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, WAARDENBURG SYNDROME, TYPE 3, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, METACARPAL 4-5 FUSION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS, TYPE 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, METACHONDROMATOSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MYHRE SYNDROME, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, NCF1, ACTB, F2, PITX1, NGF, GJA1, ERBB3, ACE, HNRNPK, MAP2K2, SMAD4, ACTG1, NOTCH1, PLEC, UBE2A, PSMB8, FGF16, IGF2, TGFB1, VWF, PAX2, RPS6KA3, HLA-DRB1, FGF9, PDGFRB, AGT, NTRK1, DMD, SPRY4, ESR1, HES7, PTPN11, FGF17, DUSP6, AKT1, CCND2, KL, IL17RD, SOS1, CBL, FGFR1, SMARCE1, FGF23, VCP, IL10, HSPB1, KARS, PRKCD, TNFAIP3, NEFL, L1CAM, KIT, PCNA, RAB7A, SHOC2, PIK3CA, TP53, EDN1, HRAS, BMP4, UBB, PDGFRA, KRAS, EFNB1, MUSK, FGFR3, PAX3, NRAS, HSPG2, FGF10, STAT3, FGFR2, PIK3R1, BRAF, INS, FGF20, RUNX2, EZH2, SF3B4, NF1, FBLN1

{PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, INCONTINENTIA PIGMENTI, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, METACHONDROMATOSIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, IMMUNODEFICIENCY 43, POPLITEAL PTERYGIUM SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 4, DIAMOND-BLACKFAN ANEMIA 6, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PAGET DISEASE OF BONE 3, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, RHEUMATOID ARTHRITIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, COFFIN-SIRIS SYNDROME 4, TUBEROUS SCLEROSIS 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, NASU-HAKOLA DISEASE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, LEOPARD SYNDROME 1

GATA1, SMARCA4, PRKCD, CBL, HLA-C, IRF5, SQSTM1, CIITA, PTPN11, RPL5, NTRK1, HLA-DRB1, HLA-B, TRIM2, B2M, IFNG, STAT1, NEFL, IKBKG, HSPD1, HLA-DQB1, TYROBP, IRF6, ESR1, HLA-DQA1

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CATSHL SYNDROME, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ?MULTIPLE SYNOSTOSES SYNDROME 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, WAARDENBURG SYNDROME, TYPE 3, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, METACARPAL 4-5 FUSION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS, TYPE 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, METACHONDROMATOSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MYHRE SYNDROME, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, NCF1, ACTB, F2, PITX1, NGF, GJA1, ERBB3, ACE, HNRNPK, MAP2K2, SMAD4, ACTG1, NOTCH1, PLEC, UBE2A, PSMB8, FGF16, IGF2, TGFB1, VWF, PAX2, RPS6KA3, HLA-DRB1, FGF9, PDGFRB, AGT, NTRK1, DMD, SPRY4, ESR1, HES7, PTPN11, FGF17, DUSP6, AKT1, CCND2, KL, IL17RD, SOS1, CBL, FGFR1, SMARCE1, FGF23, VCP, IL10, HSPB1, KARS, PRKCD, TNFAIP3, NEFL, L1CAM, KIT, PCNA, RAB7A, SHOC2, PIK3CA, TP53, EDN1, HRAS, BMP4, UBB, PDGFRA, KRAS, EFNB1, MUSK, FGFR3, PAX3, NRAS, HSPG2, FGF10, STAT3, FGFR2, PIK3R1, BRAF, INS, FGF20, RUNX2, EZH2, SF3B4, NF1, FBLN1

THANATOPHORIC DYSPLASIA, TYPE I, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ?MULTIPLE SYNOSTOSES SYNDROME 3, CATSHL SYNDROME, MUENKE SYNDROME, HYPOCHONDROPLASIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LADD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, THANATOPHORIC DYSPLASIA, TYPE II, ACHONDROPLASIA, SADDAN, OCULOECTODERMAL SYNDROME, METACARPAL 4-5 FUSION, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?RENAL HYPODYSPLASIA/APLASIA 2

NRAS, FGF16, FGF10, FGFR3, KRAS, FGF23, FGF9, FGF20, FGF17, SOS1, HRAS

{PSORIASIS SUSCEPTIBILITY 1}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, CLEFT PALATE, ISOLATED, SINGLETON-MERTEN SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LARSEN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, METACHONDROMATOSIS, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ATELOSTEOGENESIS, TYPE I, IMMUNODEFICIENCY 43, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LEUKODYSTROPHY, HYPOMYELINATING, 4, DIAMOND-BLACKFAN ANEMIA 6, RUBINSTEIN-TAYBI SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PAGET DISEASE OF BONE 3, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AICARDI-GOUTIERES SYNDROME 5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, RHEUMATOID ARTHRITIS, POPLITEAL PTERYGIUM SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, INCONTINENTIA PIGMENTI, RUBINSTEIN-TAYBI SYNDROME 2, TUBEROUS SCLEROSIS 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NASU-HAKOLA DISEASE, CRANIOLENTICULOSUTURAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, LEOPARD SYNDROME 1, JOHANSON-BLIZZARD SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, ATELOSTEOGENESIS, TYPE III, {CELIAC DISEASE, SUSCEPTIBILITY TO}

GATA1, GLE1, RPL5, SMARCA4, PRKCD, IL10, UBB, CREBBP, IRF5, SQSTM1, IKBKG, UBR1, STAT1, IGF1R, CIITA, TGFB1, HLA-DRB1, ESR1, HLA-B, PTPN11, TRIM2, TP53, EIF4A3, B2M, PSMB8, DDX58, CBL, IFNG, HLA-C, NEFL, DVL1, SEC23A, EP300, HSPD1, SAMHD1, HLA-DQB1, TYROBP, NTRK1, SMAD3, IRF6, STAT3, HLA-DQA1, INS, FLNB

OSTEOGENESIS IMPERFECTA, TYPE I, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, CAFFEY DISEASE, CAMURATI-ENGELMANN DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CZECH DYSPLASIA, KOSAKI OVERGROWTH SYNDROME, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, METACHONDROMATOSIS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE IV, PREMATURE AGING SYNDROME, PENTTINEN TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, DUCHENNE MUSCULAR DYSTROPHY, SMED STRUDWICK TYPE, EHLERS-DANLOS SYNDROME, TYPE 3, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, KNIEST DYSPLASIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPONDYLOPERIPHERAL DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, STICKLER SYNDROME, TYPE I, FIBROCHONDROGENESIS 2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, STICKLER SYNDROME, TYPE III, PITT-HOPKINS-LIKE SYNDROME 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, LEGG-CALVE-PERTHES DISEASE, BETHLEM MYOPATHY 1, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PCWH SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, WAARDENBURG SYNDROME, TYPE 4C, LEOPARD SYNDROME 1, MARSHALL SYNDROME

DDR2, COL1A1, LAMC2, LAMA2, ITGB4, COL5A2, COL17A1, NRXN1, DAG1, COL11A1, TGFB1, CASK, COL5A1, COL3A1, COL6A1, MMP2, SOX10, COL11A2, ITGA6, MMP1, COL10A1, COL1A2, PTPN11, PDGFRB, LAMB3, SMAD3, HSPG2, LAMA3, COL7A1, COL2A1, DMD, PIK3R1