SKELETAL

SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ?PRUNE BELLY SYNDROME, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RHEUMATOID ARTHRITIS, OCULODENTODIGITAL DYSPLASIA, PROTEUS SYNDROME, SOMATIC, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B

HLA-DRB1, EDN1, NEU1, GJA1, HSPG2, CHRM3, PLA2G6, INS, AKT1, IFNG

BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, BASAL CELL NEVUS SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PITUITARY DEPENDENT HYPERCORTISOLISM, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), DEJERINE-SOTTAS DISEASE, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, PITT-HOPKINS SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, LIEBENBERG SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, CINCA SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ADAMS-OLIVER SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OHDO SYNDROME, X-LINKED, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, WAARDENBURG SYNDROME, TYPE 3, HERMANSKY-PUDLAK SYNDROME 2, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CARPENTER SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, VAN BUCHEM DISEASE, TYPE 2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, EMBERGER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, WEAVER SYNDROME, PALLISTER-HALL SYNDROME, TIMOTHY SYNDROME, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, COFFIN-SIRIS SYNDROME 4, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, EXUDATIVE VITREORETINOPATHY 4, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, NEUROFIBROMATOSIS, TYPE 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, OPITZ-KAVEGGIA SYNDROME, [BONE MINERAL DENSITY VARIABILITY 1], POLYCYSTIC LIVER DISEASE, INCONTINENTIA PIGMENTI, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MUCKLE-WELLS SYNDROME, METACHONDROMATOSIS, 46,XX SEX REVERSAL, TYPE 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LUJAN-FRYNS SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CONGENITAL DISORDER OF DEGLYCOSYLATION, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CRANIOSYNOSTOSIS 6, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MECKEL SYNDROME 4, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, DIAMOND-BLACKFAN ANEMIA 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

PDE4D, PEX14, MMP2, PITX1, WNT5A, NGLY1, ACTB, IKBKG, AGT, CDK5, ASCC1, PRKAR1A, UBA1, EDN1, NLRP12, PROK2, MMP1, PIK3CA, BMP4, BMPER, EMD, SMAD4, CREBBP, GHSR, GNAI2, RBPJ, PTEN, ACTA1, VRK1, TGFB2, SOX2, ERBB3, GLI2, FGF9, NOTCH1, THRA, GATA2, EDNRA, CHRM3, IL10, NFKBIL1, MET, IFNG, GLIS3, TGFBR1, EP300, TGFB3, HSPD1, GJB1, TNFRSF1A, TMEM173, CASR, WAS, DUSP6, INS, LRP6, GJA1, SOX9, SUFU, IGF1, ZIC1, DVL3, CEP290, STAT1, HDAC6, LRP5, SH3TC2, BMP2, TUBB, BRCA1, AKT1, CCND2, SMARCA4, VDR, DDX58, TP53, EZH2, GLI3, LITAF, RPS19, NF1, F13A1, SLC9A3R1, NOD2, BTK, ITGA6, STAT3, RUNX2, PRKDC, FLNA, NGF, RAB23, PAX3, TGFB1, PTPN11, DVL1, SPG7, NLRP3, PRKACA, CACNA1C, TCF4, PCNT, MED12, RBCK1, DNMT1, SHMT1, PCNA, HRAS, LRP2, AP3B1, IFT80, SMAD3, ALB, ESR1, MTOR, PIK3R1

CAMURATI-ENGELMANN DISEASE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, HYPER-IGE RECURRENT INFECTION SYNDROME, NICOLAIDES-BARAITSER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, SHORT SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, HUTCHINSON-GILFORD PROGERIA, LOEYS-DIETZ SYNDROME 2, DEJERINE-SOTTAS DISEASE, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, MANDIBULOACRAL DYSPLASIA, PITUITARY ADENOMA, ACTH-SECRETING, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, PCWH SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?MULTIPLE SYNOSTOSES SYNDROME 3, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MUSCULAR DYSTROPHY, CONGENITAL, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, DYSKERATOSIS CONGENITA, X-LINKED, FRONTOMETAPHYSEAL DYSPLASIA, 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, ADAMS-OLIVER SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 6, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, RHEUMATOID ARTHRITIS, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, BRACHYDACTYLY, TYPE A1, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, NESTOR-GUILLERMO PROGERIA SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CEREBROCOSTOMANDIBULAR SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, EIKEN SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CORNELIA DE LANGE SYNDROME 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, TUBEROUS SCLEROSIS-1, ACROCAPITOFEMORAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, WILSON-TURNER SYNDROME, KOSAKI OVERGROWTH SYNDROME, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, 46,XX SEX REVERSAL, TYPE 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MYHRE SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, HEART-HAND SYNDROME, SLOVENIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, FACTOR XIIIA DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 1, LOEYS-DIETZ SYNDROME 4, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

SMARCA2, BANF1, IRF5, TGFB2, DKC1, SMARCA4, HDAC8, SOX9, HNRNPK, HLA-C, FGF9, PTEN, CDK5, DVL3, NGF, WAS, WRN, WNT5A, TGFB1, SNIP1, PTH1R, TGFB3, FLNA, DAG1, AGT, RBM8A, STAT3, SNRPB, LMNA, PTHLH, CENPE, TRPS1, AKT1, SOX2, SOX10, VDR, ESR1, TSC2, STK11, DVL1, TNPO3, EGR2, STX16, RPL11, RPL5, SMAD3, INS, PCNA, POU1F1, IHH, EP300, TBX6, TP53, POLD1, RUNX2, WNK1, EFEMP2, EFTUD2, HSPA9, RPS19, HNRNPA1, PDGFRB, F13A1, STRADA, CREBBP, SMAD4, TSC1, TGFBR2, UPF3B, MALT1, GNAI2, GLE1, RBPJ, SCYL1, RB1, PIK3R1

BARAITSER-WINTER SYNDROME 1, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, EMBERGER SYNDROME, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, 46XY SEX REVERSAL 9, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, OSTEOLYSIS, FAMILIAL EXPANSILE, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, LYSINURIC PROTEIN INTOLERANCE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, POPLITEAL PTERYGIUM SYNDROME 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPLIT-HAND/FOOT MALFORMATION 4, MULTIPLE ENDOCRINE NEOPLASIA IIB, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, 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, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, LIMB-MAMMARY SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, DANON DISEASE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 1, SICKLE CELL ANEMIA, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, LEOPARD SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, COMPLEMENT FACTOR I DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OTOPALATODIGITAL SYNDROME, TYPE II, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, DISTAL, TATEYAMA TYPE, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, ESTROGEN RESISTANCE, INCONTINENTIA PIGMENTI, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, OSTEOGENESIS IMPERFECTA, TYPE IV, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, FRONTOMETAPHYSEAL DYSPLASIA, 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}, ANGELMAN SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, OPSISMODYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP O, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MICROPHTHALMIA, SYNDROMIC 6, RHEUMATOID ARTHRITIS, MEIER-GORLIN SYNDROME 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ACROCAPITOFEMORAL DYSPLASIA, MYHRE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BETHLEM MYOPATHY 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, MYOPATHY, TUBULAR AGGREGATE, 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, STICKLER SYNDROME, TYPE I, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, FACTOR X DEFICIENCY, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SPLIT-HAND/FOOT MALFORMATION 1, BRACHYDACTYLY, TYPE A1, PSEUDOHYPOPARATHYROIDISM IA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, DONNAI-BARROW SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?BARDET-BIEDL SYNDROME 11, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, GALACTOSIALIDOSIS, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 43, HYPERTENSION AND BRACHYDACTYLY SYNDROME, DEJERINE-SOTTAS DISEASE, LEGG-CALVE-PERTHES DISEASE, SED CONGENITA, PITUITARY DEPENDENT HYPERCORTISOLISM, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHERUBISM, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OVARIAN DYSGENESIS 1, PEUTZ-JEGHERS SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEMOPHILIA A, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AURICULOCONDYLAR SYNDROME 1, NASU-HAKOLA DISEASE, ADAMS-OLIVER SYNDROME 2, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COFFIN-SIRIS SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SINGLETON-MERTEN SYNDROME 2, METACHONDROMATOSIS, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PHYTANIC ACID STORAGE DISEASE, FACTOR VII DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, VON WILLIBRAND DISEASE, TYPE 3, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, SMITH-KINGSMORE SYNDROME, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, CAFFEY DISEASE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE XVII, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, ADULT SYNDROME, NOONAN SYNDROME 7, AVASCULAR NECROSIS OF THE FEMORAL HEAD, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LADD SYNDROME, LIANG DISTAL MYOPATHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, FACTOR XIIIA DEFICIENCY, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, PALLISTER-HALL SYNDROME, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, MASA SYNDROME, CRASH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, LEOPARD SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

SLC34A1, BRCA2, DNM2, F2, HBB, FGFR1, CDK5, HSPB1, SMAD3, COL1A1, PRKACA, ACTB, GNAS, IKBKG, CDT1, COL1A2, AGT, GNAI3, P4HB, AGTR1, SOX2, KDM1A, CALCR, GGCX, EDN1, B2M, STK11, CBL, EGR2, ITGA3, BMP4, RAB7A, BAG3, MMP1, PTPN11, DES, PIK3CA, TRIM32, MMP2, EFEMP2, CDC73, TYROBP, SMAD4, GNAI2, ADCY6, COL2A1, MUSK, ACTA1, SOX9, EDNRA, F7, TGFB2, ACVR1, FBLN5, ERBB3, IL10, CIITA, CAPN3, IRF5, FSHR, ORAI1, IGF2, NOTCH1, CENPF, GATA2, KIF5A, SH3BP2, CTSA, KIF5C, DOCK6, SMARCE1, ITGA6, MPL, MMP13, IFNG, HLA-DRB1, PDE3A, PAPSS2, FMR1, SPARC, TGFBR1, EP300, TGFB1, HSPD1, EZH2, TSHR, SLC7A7, TNFRSF11A, CREBBP, BIN1, RPS6KA3, TP63, BRAF, INS, LAMP2, SMC3, CTSD, GATA1, FCGR2A, CAV3, STIM1, ITGB4, GJA1, NRAS, IGF1, PDE11A, VWF, MECP2, KLC2, TGFB3, FLNA, CASR, DMD, HNF4A, BMP2, HRAS, BRCA1, PRKAR1A, AKT1, TUBB3, KRAS, INPPL1, AIP, PHYH, DDX58, COL18A1, WAS, TP53, UBE3A, LRP2, ATP1A3, MFN2, IHH, GLI3, RAD51C, TTN, EFNB1, PTEN, ABCC8, F13A1, SLC9A3R1, CHRM3, DLX5, KIT, GSC, SERPINC1, ZFPM2, HTRA1, NGF, PRKCD, MYH7, HNRNPK, ALB, PIK3R2, NTRK1, WRN, ENTPD1, PDE4D, IGF1R, AP3B1, KIF22, STAT1, STAT3, F8, CFI, INSR, CENPE, COL6A1, SOS1, CD244, PDGFRB, ITCH, FGFR2, PLCG2, RB1, PTHLH, L1CAM, PCNA, CLASP1, RET, APC, PSTPIP1, F10, HLA-C, SERPINF2, MYH11, IRF6, HSPG2, ESR1, TGFBR2, HFE, MTOR, PIK3R1

ADAMS-OLIVER SYNDROME 5, PAPILLORENAL SYNDROME, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NOONAN SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIEBENBERG SYNDROME, CORNELIA DE LANGE SYNDROME 4, MICROPHTHALMIA, SYNDROMIC 6, RUBINSTEIN-TAYBI SYNDROME, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NEUROFIBROMATOSIS, TYPE 1, EHLERS-DANLOS SYNDROME, TYPE 3, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, RENAL ADYSPLASIA, LOEYS-DIETZ SYNDROME 3, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS-NOONAN SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PARIETAL FORAMINA 2, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, LADD SYNDROME, PALLISTER-HALL SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, AURICULOCONDYLAR SYNDROME 3, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SPLIT-HAND/FOOT MALFORMATION 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, PROTEUS SYNDROME, SOMATIC

SMARCA4, ERBB3, SMAD4, RAD21, DVL3, TGFB1, ROBO3, PAX2, AGT, PITX1, SOX2, NOTCH1, EDN1, ITGA8, SOS1, NIPBL, FOXC2, DLX5, TP53, RET, GLI3, AKT1, BMP4, ZBTB16, HOXA11, NF1, SMAD3, IGF1, CREBBP, FGF10, STAT3, ALX4, INS, PTEN

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, BRACHYDACTYLY, TYPE A1, D, CAMURATI-ENGELMANN DISEASE, BASAL CELL NEVUS SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, GLUTAMINE DEFICIENCY, CONGENITAL, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HEMOCHROMATOSIS TYPE 1, {PSORIASIS SUSCEPTIBILITY 1}, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, MICROPHTHALMIA, SYNDROMIC 6, DUCHENNE MUSCULAR DYSTROPHY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MYOTUBULAR MYOPATHY, X-LINKED, POPLITEAL PTERYGIUM SYNDROME 1, 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, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, BLAU SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, RUBINSTEIN-TAYBI SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, DYSAUTONOMIA, FAMILIAL, LEOPARD SYNDROME 3, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, AGAMMAGLOBULINEMIA, X-LINKED 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, NEMALINE MYOPATHY 5, AMISH TYPE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, COFFIN-SIRIS SYNDROME 1, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, LOEYS-DIETZ SYNDROME 2, ULNAR-MAMMARY SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), SPLIT-HAND/FOOT MALFORMATION 4, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, BERGER DISEASE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, DUANE-RADIAL RAY SYNDROME, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, OPSISMODYSPLASIA, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, GLYCOGEN STORAGE DISEASE VII, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ADULT SYNDROME, CORNELIA DE LANGE SYNDROME 1, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?MULTIPLE SYNOSTOSES SYNDROME 3, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, EXUDATIVE VITREORETINOPATHY 4, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, IMMUNODEFICIENCY 43, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, PYCNODYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 6, CINCA SYNDROME, PHELAN-MCDERMID SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, VELOCARDIOFACIAL SYNDROME, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, SHORT SYNDROME, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, RHEUMATOID ARTHRITIS, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, PRADER-WILLI SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, EIKEN SYNDROME, ATELOSTEOGENESIS, TYPE I, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, VAN DEN ENDE-GUPTA SYNDROME, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, HAY-WELLS SYNDROME, LADD SYNDROME, DIGEORGE SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, PSEUDOHYPOPARATHYROIDISM IA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, VAN BUCHEM DISEASE, TYPE 2, KEPPEN-LUBINSKY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LIMB-MAMMARY SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CHAR SYNDROME, CULLER-JONES SYNDROME, COLE-CARPENTER SYNDROME 1, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, [BONE MINERAL DENSITY VARIABILITY 1], HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, OCULOECTODERMAL SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, IVIC SYNDROME, ALAGILLE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, PITUITARY DEPENDENT HYPERCORTISOLISM, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, MENTAL RETARDATION, X-LINKED 21/34, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, MUSCULAR DYSTROPHY, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, BRACHYDACTYLY, TYPE A2, ?OSTEOGENESIS IMPERFECTA, TYPE X, OVARIAN DYSGENESIS 1, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, ?CHARGE SYNDROME, CHARGE SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, NASU-HAKOLA DISEASE, MALOUF SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS, TYPE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, FRONTOMETAPHYSEAL DYSPLASIA, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, 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, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, PSORIASIS 14, PUSTULAR, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PARIETAL FORAMINA 1, POLYCYSTIC LIVER DISEASE, INCONTINENTIA PIGMENTI, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, AURICULOCONDYLAR SYNDROME 3, CRANIOSYNOSTOSIS, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE VIII, MUCKLE-WELLS SYNDROME, METACHONDROMATOSIS, 46,XX SEX REVERSAL, TYPE 2, RESTRICTIVE DERMOPATHY, LETHAL, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 1, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOCLONIC-ATONIC EPILEPSY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SENIOR-LOKEN SYNDROME 9, HYPEREKPLEXIA HEREDITARY, HEART-HAND SYNDROME, SLOVENIAN TYPE, OSTEOLYSIS, FAMILIAL EXPANSILE, RUBINSTEIN-TAYBI SYNDROME 2, ?DYSTONIA 23, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, HERMANSKY-PUDLAK SYNDROME 2, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ATELOSTEOGENESIS, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CA2, TSC2, NEU1, F2, FGFR1, WNT5A, HSPB1, NCF1, KISS1, SALL1, MFN2, ITGB4, GNAS, IKBKG, CACNA1B, SMARCA4, RPL5, TBX3, AGT, TP63, GCK, KCNJ6, CDK5, OTX2, NLRC4, PRKAR1A, CALCR, EDN1, TRAF3IP1, BTK, SHANK3, UBB, KISS1R, STK11, FGF23, IL10, SCARF2, SALL4, NF1, RAB7A, TGFBR1, BAG3, PROK2, COL1A1, DNM2, PIK3CA, TFAP2B, WNK1, BMP4, BMPER, JAG1, TYROBP, HNRNPA1, TGFBR2, SMAD4, CREBBP, IKBKAP, P3H1, MAFB, RBPJ, SF3B4, MUSK, ACTA1, ACE, DVL3, GRIP1, F13A1, KRAS, GJA1, ERBB3, CBL, LZTR1, ADCY6, FSHR, P4HB, FERMT3, NOTCH1, GRID2, THRA, GLI2, CIITA, GATA2, SLC34A1, KIF5A, GHSR, MMP13, TAF6, COPA, MSX2, KIF5C, ESR1, MEGF10, SMARCE1, GNAI2, LMNA, MET, IFNG, EFTUD2, TNNT1, GLIS3, LRSAM1, SYT2, EP300, TAF1, HSPD1, NR2F1, ROR2, TMEM173, T, CASR, TSHR, NLRP1, TNFRSF11A, PCNA, RPS6KA3, GPHN, DUSP6, TBX1, INS, ABCC8, SNAP25, CTSD, PAX8, PTCH1, CAV3, GLRA1, KCNJ11, SLC2A2, STX16, TGFB2, SERPINH1, IGF1, AGTR1, CTSK, GRM1, PAX2, HLA-DRB1, CHRM3, TGFB3, CHD7, REN, CTLA4, DMD, SOX9, TUBB, HNF4A, CHRNE, BMP2, HRAS, IL36RN, MTOR, NDN, PTHLH, AKT1, CCND2, SOX2, INPPL1, IGF1R, WAS, TP53, UBE3A, SLC25A4, ALOX12B, TWIST1, HTRA1, PSTPIP1, ZBTB16, RPS19, TUBB3, PTEN, IL1RN, FGF9, SLC9A3R1, NOD2, NLRP12, IL1RAPL1, DYNC1H1, STAT3, RUNX2, RB1, AHI1, PFKM, SSR4, TNFSF11, UQCC2, SMAD3, BIN1, PRKCD, B2M, CHEK2, FBLN1, ALB, NGF, PIK3R2, TGFB1, FLNA, PTPN11, PDE4D, SPG7, FGF10, BMPR1B, SPTLC1, STAT1, ACVR1, PRKACA, CACNA1C, INSR, SMARCA2, SOS1, KARS, DNMT1, BRAF, LRP5, SEC63, GLUL, FSHB, TRH, PLA2G6, RET, CTNS, PTH1R, SOX11, SMC3, SLC6A1, HACE1, HLA-C, AP3B1, ADA, MYH11, NPR2, IRF6, HSPG2, EXOC8, NLRP3, PIGR, TINF2, FLNB, CASK, PIK3R1, MMP2

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, BRACHYDACTYLY, TYPE A1, D, CAMURATI-ENGELMANN DISEASE, BASAL CELL NEVUS SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, GLUTAMINE DEFICIENCY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, OSSEOUS HETEROPLASIA, PROGRESSIVE, 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, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, HUTCHINSON-GILFORD PROGERIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, DYSAUTONOMIA, FAMILIAL, ?DYSTONIA 23, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, NASU-HAKOLA DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, OSTEOGENESIS IMPERFECTA, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE III, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, FRONTOMETAPHYSEAL DYSPLASIA, CINCA SYNDROME, PHELAN-MCDERMID SYNDROME, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, OSTEOLYSIS, FAMILIAL EXPANSILE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MALOUF SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, NEUROFIBROMATOSIS, TYPE 1, IVIC SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, OSTEOGENESIS IMPERFECTA, TYPE I, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, CAFFEY DISEASE, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, MUSCULAR DYSTROPHY, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, ?MYASTHENIC SYNDROME, CONGENITAL, 18, DUANE-RADIAL RAY SYNDROME, HYPERPARATHYROIDISM, NEONATAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MYOCLONIC-ATONIC EPILEPSY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, GLYCOGEN STORAGE DISEASE VII, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, BLAU SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PARIETAL FORAMINA 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, MUCKLE-WELLS SYNDROME, METACHONDROMATOSIS, RESTRICTIVE DERMOPATHY, LETHAL, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CRANIOSYNOSTOSIS, TYPE 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ULNAR-MAMMARY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, LADD SYNDROME, SENIOR-LOKEN SYNDROME 9, HEART-HAND SYNDROME, SLOVENIAN TYPE, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, BERGER DISEASE, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, LEOPARD SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

CA2, PDE4D, NEU1, F2, WNT5A, LMNA, KISS1, SALL1, MFN2, GNAS, IKBKG, CACNA1B, TBX3, AGT, AGTR1, OTX2, PRKAR1A, EDN1, TRAF3IP1, NLRP12, UBB, IL10, SALL4, NF1, RAB7A, NPR2, PROK2, COL1A1, DNM2, PIK3CA, MMP2, BMP4, TYROBP, HNRNPA1, CREBBP, MAFB, MUSK, ACTA1, TGFB2, ACVR1, KRAS, ERBB3, MEGF10, FERMT3, GLUL, CIITA, GATA2, KIF5A, NOD2, MMP13, MSX2, KIF5C, ESR1, CBL, IKBKAP, MET, IFNG, HLA-DRB1, TNNT1, TGFBR1, EP300, HSPD1, TMEM173, NLRC4, TSHR, NLRP1, TNFRSF11A, STAT3, INS, SNAP25, GCK, PIGR, PTCH1, GLRA1, GJA1, IGF1, CDK5, DVL3, STAT1, TGFB3, FLNA, CASR, DMD, TUBB, SLC6A1, PTHLH, AKT1, TUBB3, SMARCA4, INPPL1, IGF1R, WAS, KARS, ALOX12B, TWIST1, KISS1R, PTEN, F13A1, CALCR, SHANK3, RUNX2, PFKM, TNFSF11, CHRNE, NGF, PRKCD, B2M, CHEK2, FBLN1, BMPR1B, PIK3R2, TGFB1, CHRM3, PTPN11, SPG7, FGF10, CASK, GPHN, PRKACA, INSR, SOS1, TP53, DNMT1, PCNA, TRH, PLA2G6, CTNS, SOX11, HRAS, AP3B1, SMAD3, ALB, HSPG2, NLRP3, TINF2, PIK3R1

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, MICROPHTHALMIA, SYNDROMIC 6, 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, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, DYSAUTONOMIA, FAMILIAL, LEOPARD SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, IMMUNODEFICIENCY 43, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, OPSISMODYSPLASIA, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE 3, CINCA SYNDROME, LOEYS-DIETZ SYNDROME 3, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, FANCONI RENOTUBULAR SYNDROME 2, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, CORNELIA DE LANGE SYNDROME 3, TIMOTHY SYNDROME, PSORIASIS 14, PUSTULAR, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, MENTAL RETARDATION, X-LINKED 21/34, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, METACHONDROMATOSIS, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, NEUROFIBROMATOSIS, TYPE 1, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, BRACHYDACTYLY, TYPE A2, NOONAN SYNDROME 7, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CAV3, EDN1, KCNJ11, CHRNE, MYH11, NGF, ERBB3, FSHB, BRAF, IGF1, PTEN, NOTCH1, DVL3, FSHR, GNAS, TGFB1, PAX2, EFTUD2, SPG7, AGT, ITGB4, GCK, STAT3, CDK5, CACNA1C, SLC34A1, CASR, ESR1, PTPN11, IL36RN, MTOR, IL1RN, AKT1, BMP2, TUBB3, REN, NLRP12, DNMT1, NLRP3, B2M, GNAI2, FGF23, IL10, HSPB1, TP53, STX16, WNK1, BMP4, IL1RAPL1, PCNA, TRH, GHSR, TGFBR1, EP300, GRM1, HSPD1, SMC3, HRAS, HLA-C, BMPER, ZBTB16, TSHR, NOD2, RB1, ABCC8, SMAD3, SMAD4, ALB, HSPG2, ADA, ACVR1, INPPL1, IKBKAP, INS, PROK2, SNAP25, CTSD, SF3B4, NF1, HTRA1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, OTOPALATODIGITAL SYNDROME, TYPE II, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA, SYNDROMIC 6, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EXUDATIVE VITREORETINOPATHY 4, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, DYSAUTONOMIA, FAMILIAL, PARIETAL FORAMINA 2, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MULTIPLE SYNOSTOSES SYNDROME 1, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, AURICULOCONDYLAR SYNDROME 3, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, PCWH SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, CZECH DYSPLASIA, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, RUBINSTEIN-TAYBI SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRONTOMETAPHYSEAL DYSPLASIA, VELOCARDIOFACIAL SYNDROME, 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, ADAMS-OLIVER SYNDROME 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, CARPENTER SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, TARSAL-CARPAL COALITION SYNDROME, KEUTEL SYNDROME, MALOUF SYNDROME, WAARDENBURG SYNDROME, TYPE 3, HERMANSKY-PUDLAK SYNDROME 2, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SYMPHALANGISM, PROXIMAL, 1A, WAARDENBURG SYNDROME, TYPE 4C, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PAPILLORENAL SYNDROME, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, NOONAN SYNDROME 4, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, MUSCULAR DYSTROPHY, CONGENITAL, DIGEORGE SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, KINDLER SYNDROME, SED CONGENITA, PITUITARY DEPENDENT HYPERCORTISOLISM, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, RESTRICTIVE DERMOPATHY, LETHAL, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, HYPERPARATHYROIDISM, NEONATAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, WAARDENBURG SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, ?CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY, VAN BUCHEM DISEASE, TYPE 2, FRONTONASAL DYSPLASIA 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, [BONE MINERAL DENSITY VARIABILITY 1], SPONDYLOCOSTAL DYSOSTOSIS 5, POLYCYSTIC LIVER DISEASE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BRACHYDACTYLY, TYPE B2, CRANIOSYNOSTOSIS, TYPE 2, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, RENAL ADYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CRANIOSYNOSTOSIS 6, LADD SYNDROME, HEART-HAND SYNDROME, SLOVENIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, LEGG-CALVE-PERTHES DISEASE, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PALLISTER-HALL SYNDROME, PARIETAL FORAMINA 1, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, DNMT1, LMNA, EDN1, TGFBR1, LRP5, TAF1, LRP6, SMARCA4, TP53, HNRNPK, PLEKHG5, PAX3, TWIST1, CDK5, SMC3, FOXC2, UBA1, TGFB1, PIK3CA, PAX2, CREBBP, FGF10, FLNA, AP3B1, AGT, OTX2, FGFR1, STAT3, ZIC1, ENG, BMP2, ALX4, PRKAR1A, BMP4, FGF9, AKT1, SOX2, SOX10, SOS1, PRKDC, ESR1, WNT5A, F2, ITGA6, DLL4, NOG, MEGF8, LRP2, CLASP1, COL2A1, IKBKAP, KIT, NPR2, IGF1, MGP, RET, EP300, FERMT1, TBX6, IFNG, GLI3, NR2F1, NOTCH1, ITCH, EZH2, CASR, ADA, RUNX2, PTEN, SMAD3, GNAI2, WDPCP, HSPG2, EFNB1, ACVR1, MSX2, TBX1, INS, RBPJ, MYH2, DAG1

BARAITSER-WINTER SYNDROME 1, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, EMBERGER SYNDROME, CZECH DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, 46XY SEX REVERSAL 9, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, OSTEOLYSIS, FAMILIAL EXPANSILE, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, LYSINURIC PROTEIN INTOLERANCE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, POPLITEAL PTERYGIUM SYNDROME 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPLIT-HAND/FOOT MALFORMATION 4, MULTIPLE ENDOCRINE NEOPLASIA IIB, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, 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, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, LIMB-MAMMARY SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, DANON DISEASE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 1, SICKLE CELL ANEMIA, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, LEOPARD SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, COMPLEMENT FACTOR I DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OTOPALATODIGITAL SYNDROME, TYPE II, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, DISTAL, TATEYAMA TYPE, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, ESTROGEN RESISTANCE, INCONTINENTIA PIGMENTI, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, OSTEOGENESIS IMPERFECTA, TYPE IV, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, FRONTOMETAPHYSEAL DYSPLASIA, 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}, ANGELMAN SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, OPSISMODYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP O, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MICROPHTHALMIA, SYNDROMIC 6, RHEUMATOID ARTHRITIS, MEIER-GORLIN SYNDROME 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ACROCAPITOFEMORAL DYSPLASIA, MYHRE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BETHLEM MYOPATHY 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, MYOPATHY, TUBULAR AGGREGATE, 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, STICKLER SYNDROME, TYPE I, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, FACTOR X DEFICIENCY, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SPLIT-HAND/FOOT MALFORMATION 1, BRACHYDACTYLY, TYPE A1, PSEUDOHYPOPARATHYROIDISM IA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, DONNAI-BARROW SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?BARDET-BIEDL SYNDROME 11, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, GALACTOSIALIDOSIS, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 43, HYPERTENSION AND BRACHYDACTYLY SYNDROME, DEJERINE-SOTTAS DISEASE, LEGG-CALVE-PERTHES DISEASE, SED CONGENITA, PITUITARY DEPENDENT HYPERCORTISOLISM, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHERUBISM, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OVARIAN DYSGENESIS 1, PEUTZ-JEGHERS SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEMOPHILIA A, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AURICULOCONDYLAR SYNDROME 1, NASU-HAKOLA DISEASE, ADAMS-OLIVER SYNDROME 2, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COFFIN-SIRIS SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SINGLETON-MERTEN SYNDROME 2, METACHONDROMATOSIS, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PHYTANIC ACID STORAGE DISEASE, FACTOR VII DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, VON WILLIBRAND DISEASE, TYPE 3, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, SMITH-KINGSMORE SYNDROME, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, CAFFEY DISEASE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE XVII, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, ADULT SYNDROME, NOONAN SYNDROME 7, AVASCULAR NECROSIS OF THE FEMORAL HEAD, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LADD SYNDROME, LIANG DISTAL MYOPATHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, FACTOR XIIIA DEFICIENCY, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, PALLISTER-HALL SYNDROME, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, MASA SYNDROME, CRASH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, LEOPARD SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

SLC34A1, BRCA2, DNM2, F2, HBB, FGFR1, CDK5, HSPB1, SMAD3, COL1A1, PRKACA, ACTB, GNAS, IKBKG, CDT1, COL1A2, AGT, GNAI3, P4HB, AGTR1, SOX2, KDM1A, CALCR, GGCX, EDN1, B2M, STK11, CBL, EGR2, ITGA3, BMP4, RAB7A, BAG3, MMP1, PTPN11, DES, PIK3CA, TRIM32, MMP2, EFEMP2, CDC73, TYROBP, SMAD4, GNAI2, ADCY6, COL2A1, MUSK, ACTA1, SOX9, EDNRA, F7, TGFB2, ACVR1, FBLN5, ERBB3, IL10, CIITA, CAPN3, IRF5, FSHR, ORAI1, WRN, NOTCH1, CENPF, GATA2, KIF5A, SH3BP2, CTSA, KIF5C, DOCK6, SMARCE1, ITGA6, MPL, MMP13, IFNG, HLA-DRB1, PDE3A, PAPSS2, FMR1, SPARC, TGFBR1, EP300, TGFB1, HSPD1, EZH2, TSHR, SLC7A7, TNFRSF11A, CREBBP, BIN1, RPS6KA3, TP63, BRAF, INS, LAMP2, SMC3, CTSD, GATA1, FCGR2A, CAV3, STIM1, ITGB4, GJA1, NRAS, IGF1, PDE11A, VWF, MECP2, KLC2, TGFB3, FLNA, CASR, DMD, HNF4A, BMP2, HRAS, PRKAR1A, AKT1, TUBB3, KRAS, INPPL1, AIP, PHYH, DDX58, COL18A1, WAS, TP53, UBE3A, LRP2, ATP1A3, MFN2, IHH, GLI3, RAD51C, TTN, EFNB1, PTEN, ABCC8, F13A1, SLC9A3R1, CHRM3, DLX5, KIT, GSC, SERPINC1, ZFPM2, HTRA1, NGF, PRKCD, MYH7, HNRNPK, ALB, PIK3R2, NTRK1, IGF2, ENTPD1, PDE4D, IGF1R, AP3B1, KIF22, STAT1, STAT3, F8, CFI, INSR, CENPE, COL6A1, SOS1, CD244, PDGFRB, ITCH, FGFR2, PLCG2, RB1, PTHLH, L1CAM, PCNA, CLASP1, RET, APC, PSTPIP1, F10, HLA-C, SERPINF2, MYH11, IRF6, HSPG2, ESR1, TGFBR2, HFE, MTOR, PIK3R1

BARAITSER-WINTER SYNDROME 1, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, GLUTAMINE DEFICIENCY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPOPHOSPHATASIA, CHILDHOOD, NEMALINE MYOPATHY 5, AMISH TYPE, SHORT SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, COCKAYNE SYNDROME, TYPE B, MYOTUBULAR MYOPATHY, X-LINKED, 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, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, MYHRE SYNDROME, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HPRT-RELATED GOUT, LEOPARD SYNDROME 3, ?AL-GAZALI-BAKALINOVA SYNDROME, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), HYPOPHOSPHATASIA, INFANTILE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ?BARDET-BIEDL SYNDROME 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, AURICULOCONDYLAR SYNDROME 3, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, INCONTINENTIA PIGMENTI, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL TUBULAR DYSGENESIS, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, CALCIFICATION OF JOINTS AND ARTERIES, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, SITOSTEROLEMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, RAPADILINO SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SECKEL SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, BERGER DISEASE, MULIBREY NANISM, MENTAL RETARDATION, X-LINKED 102, FRONTOMETAPHYSEAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, CRANIOSYNOSTOSIS, TYPE 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, 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}, FILS SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, FANCONI ANEMIA, COMPLEMENTATION GROUP O, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, RHEUMATOID ARTHRITIS, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, COFFIN-SIRIS SYNDROME 4, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, BEHR SYNDROME, TUBEROUS SCLEROSIS 2, SYNDACTYLY, TYPE V, BRACHYDACTYLY, TYPE E, HERMANSKY-PUDLAK SYNDROME 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, CARPENTER SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HEIMLER SYNDROME 2, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, FANCONI ANEMIA, COMPLEMENTATION GROUP C, LOEYS-DIETZ SYNDROME 1, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, {PSORIASIS SUSCEPTIBILITY 1}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, WARBURG MICRO SYNDROME 3, CORNELIA DE LANGE SYNDROME 3, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, [URIC ACID CONCENTRATION, SERUM, QTL1], LOWE SYNDROME, BURN-MCKEOWN SYNDROME, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ?JOUBERT SYNDROME 22, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, CORNELIA DE LANGE SYNDROME 4, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE IX, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, HYPERTENSION AND BRACHYDACTYLY SYNDROME, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, LIANG DISTAL MYOPATHY, PITUITARY DEPENDENT HYPERCORTISOLISM, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 1, WARSAW BREAKAGE SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, AURICULOCONDYLAR SYNDROME 1, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, ?HYDROLETHALUS SYNDROME 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, WAARDENBURG SYNDROME, TYPE 3, MEIER-GORLIN SYNDROME 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, ?MECKEL SYNDROME 12, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?PRUNE BELLY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, SMITH-MCCORT DYSPLASIA 2, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, CODAS SYNDROME, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, PARIETAL FORAMINA 1, POLYCYSTIC LIVER DISEASE, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, METACHONDROMATOSIS, ?SECKEL SYNDROME 8, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, NEUROFIBROMATOSIS, TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LESCH-NYHAN SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, BRACHYDACTYLY, TYPE A2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, NOONAN SYNDROME 7, AICARDI-GOUTIERES SYNDROME 5, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MEIER-GORLIN SYNDROME 1, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, DYSTONIA-1, TORSION, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ARTHROGRYPOSIS, DISTAL, TYPE 8, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, LEOPARD SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, COLE DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CA2, TSC2, BRCA2, DNM2, SQSTM1, MYH14, PDE4D, RAD21, TBCE, ACTB, ITGB4, PEX14, NT5E, IKBKG, CDT1, PEX6, EFTUD2, ALPL, ENPP1, TUBB, GNAI3, CDK5, PIGT, TRAPPC2, PRKAR1A, UBA1, RECQL4, REN, EIF4A3, IGHMBP2, KIF7, KIF1B, NF1, RAB7A, CDC6, PTPN11, DES, PIK3CA, TRIM32, SOS1, WNK1, ERCC2, OCRL, MYH3, MSX2, GNAI2, DYNC2H1, ATL3, KIF1A, NONO, ACTA1, SMARCA2, NF2, MFN2, GRIP1, ACVR1, KRAS, COPA, ABCA12, MYH7, NME1, DDX11, WRN, GNAS, GCH1, SMARCB1, MAPT, FANCC, CIITA, RYR1, HLA-DRB1, KIF5A, TAF6, EXOSC8, KIF5C, MEGF10, LONP1, MET, IFNG, TPM2, RPL5, TNNT1, MYH8, TGFBR1, GMPPB, TAF1, HSPD1, RBPJ, SAMHD1, FANCA, TNNT2, RAB18, PCNA, RPS6KA3, AGT, STAT3, VCP, BRAF, INS, ABCC8, SNAP25, RAB33B, PIGR, VPS33B, CAV3, BANF1, ATL1, DDX3X, KIF14, NRAS, AP4M1, SMAD4, PDE11A, CLASP1, CBS, ABCG8, HPRT1, STAT1, HDAC6, TNNT3, CASR, CTDP1, ERCC5, CTSD, SMARCAL1, PEX5, BMP2, SSR4, MTOR, AKT1, TUBB3, SMARCA4, TXNL4A, VDR, HACE1, PPIB, DDX58, PRKCD, TP53, UBE3A, ABCC6, DNA2, EDN1, TINF2, PSTPIP1, ABCG2, PTEN, NT5C2, RAD51C, SLC9A3R1, CHRM3, TGFB1, DYNC1H1, ERCC6, PFKM, PRKDC, PEX1, IRF5, FLNA, NGF, HINT1, B2M, PAX3, ACTG1, LAMA2, ABCG5, PIK3R2, CENPE, RAB23, DVL1, AP3B1, IFT27, KIF22, SPTLC1, WAS, ORC1, INSR, ENTPD1, ATRX, POLE, BLM, SPAST, SEC63, ABCC9, GLUL, GPX4, RTEL1, OPA1, TOR1A, PDE6D, PEX19, SMC3, HRAS, PDE3A, HOXD13, HLA-C, AP2S1, ADA, NHP2, SMAD3, ATR, EXOC8, ESR1, TRIM37, CASK, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, LIMB-MAMMARY SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, EMBERGER SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CZECH DYSPLASIA, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, ACHONDROPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA, SYNDROMIC 6, ?OSTEOGENESIS IMPERFECTA, TYPE XII, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CAFFEY DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, CARASIL SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, STICKLER SYNDROME, TYPE I, PARIETAL FORAMINA 2, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, HYPOPHOSPHATASIA, INFANTILE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SYNOSTOSES SYNDROME 1, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, AURICULOCONDYLAR SYNDROME 3, SPLIT-HAND/FOOT MALFORMATION 4, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, TRIGONOCEPHALY 1, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, EXOSTOSES, MULTIPLE, TYPE 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, RUBINSTEIN-TAYBI SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, PCWH SYNDROME, BRACHYDACTYLY, TYPE C, SADDAN, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, HAY-WELLS SYNDROME, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, MEND SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, MULTIPLE SYNOSTOSES SYNDROME 2, FUHRMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, LIEBENBERG SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), LANGER MESOMELIC DYSPLASIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, SYMPHALANGISM, PROXIMAL, 1A, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BRACHYDACTYLY, TYPE A1, C, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LOEYS-DIETZ SYNDROME 3, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, FRANK-TER HAAR SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, ADAMS-OLIVER SYNDROME 3, HAND-FOOT-UTERUS SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPOPHOSPHATEMIC RICKETS, AR, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, OTOPALATODIGITAL SYNDROME, TYPE I, PRADER-WILLI SYNDROME, TARSAL-CARPAL COALITION SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, OSSEOUS HETEROPLASIA, PROGRESSIVE, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, SYNDACTYLY, TYPE V, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, BRACHYDACTYLY, TYPE E, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, IVIC SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, BRACHYDACTYLY, TYPE A1, PSEUDOHYPOPARATHYROIDISM IA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, WAARDENBURG SYNDROME, TYPE 4C, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, 5, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ?OTOFACIOCERVICAL SYNDROME 2, KNOBLOCH SYNDROME 1, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HOLOPROSENCEPHALY-9, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, OCULOECTODERMAL SYNDROME, JACKSON-WEISS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, BRACHYDACTYLY, TYPE E2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, IMAGE SYNDROME, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ALAGILLE SYNDROME, LEGG-CALVE-PERTHES DISEASE, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, CHONDROSARCOMA, EIKEN SYNDROME, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, MUENKE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, 46,XX SEX REVERSAL, TYPE 2, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, ELLIS-VAN CREVELD SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, LIANG DISTAL MYOPATHY, FRONTONASAL DYSPLASIA 2, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, BECKWITH-WIEDEMANN SYNDROME, WAARDENBURG SYNDROME, TYPE 3, ACROCAPITOFEMORAL DYSPLASIA, MYHRE SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, RETT SYNDROME, CONGENITAL VARIANT, FIBROCHONDROGENESIS 2, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SMITH-MAGENIS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, BRACHYDACTYLY, TYPE B2, CRANIOSYNOSTOSIS, TYPE 2, WOLCOTT-RALLISON SYNDROME, RAINE SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, GELEOPHYSIC DYSPLASIA 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE IV, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ULNAR-MAMMARY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, ADULT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, LERI-WEILL DYSCHONDROSTEOSIS, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, STICKLER SYNDROME, TYPE III, OSTEOGENESIS IMPERFECTA, TYPE XV, SCHNECKENBECKEN DYSPLASIA, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, LADD SYNDROME, ACROMICRIC DYSPLASIA, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CHONDRODYSPLASIA, GREBE TYPE, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, STIFF SKIN SYNDROME, PALLISTER-HALL SYNDROME, PARIETAL FORAMINA 1, BRACHYDACTYLY, TYPE A1, D, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, WEILL-MARCHESANI SYNDROME 2, DOMINANT, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, CHONDROCALCINOSIS 2, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, PHEX, PITX1, WNT5A, COL1A1, ICK, SALL1, ACTB, GNAS, GLI3, RAI1, SMARCA4, EBP, F2, TBX3, AGT, COL11A2, INSR, COL5A1, TRAPPC2, SOX2, PTHLH, EDN1, BMP1, SOX10, FRZB, ARSE, NOG, SLC35D1, SALL4, TERT, SUFU, COL10A1, PIK3CA, BMP4, PAX1, BMPER, JAG1, DLL4, TNFRSF11B, SMAD4, CREBBP, MATN3, COL2A1, RBPJ, SF3B4, DMP1, EVC, WNT7A, CHD7, KRAS, GLI2, FGF9, CALCR, SP7, IGF2, NOTCH1, MYCN, SMARCB1, GATA2, FGFR1, HOXA13, COL3A1, COL9A2, MSX2, COMP, SPARC, PAPSS2, NKX3-2, TGFBR1, EP300, T, HOXA11, GSC, FGF23, RPS6KA3, TP63, DDR2, DEAF1, INS, LRP6, ANKH, PAX8, PTCH1, FAM20C, TAPT1, GPC3, ALPL, GJA1, SOX9, HNF1B, IGF1, EXT1, PAX2, COL17A1, PTH1R, ACAN, HES7, BMP2, GDF5, TBX5, MTOR, NDN, AKT1, CYBB, PRKDC, SHOX, FOXC2, IGF1R, TP53, FBN1, SH3PXD2B, IHH, COL1A2, FBN2, CDKN1C, ZBTB16, PTEN, FGFR3, SLC9A3R1, DLX5, RUNX2, VDR, FLNA, HTRA1, NGF, MYH7, CHEK2, PAX3, FOXG1, TGFB1, MMP2, COL5A2, VCP, EIF2AK3, FGF10, HEXB, STAT3, TCF4, TRPS1, SMARCA2, DNMT1, ALX4, WNT1, SLC35A3, COL18A1, TBX6, SOX11, HRAS, HOXD13, SPG7, SMAD3, BMPR1B, HSPG2, COL7A1, ARSB

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, CAMURATI-ENGELMANN DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, CZECH DYSPLASIA, MICROPHTHALMIA, SYNDROMIC 6, FEINGOLD SYNDROME, 46,XX SEX REVERSAL, TYPE 2, STICKLER SYNDROME, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, FUHRMANN SYNDROME, STICKLER SYNDROME, TYPE I, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, OSTEOGENESIS IMPERFECTA, TYPE XIII, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, BRACHYDACTYLY, TYPE B1, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, RUBINSTEIN-TAYBI SYNDROME 2, LEGG-CALVE-PERTHES DISEASE, KEUTEL SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, RUBINSTEIN-TAYBI SYNDROME, BRACHYDACTYLY, TYPE A1, D, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, FIBROCHONDROGENESIS 1, ROBINOW SYNDROME, MARSHALL SYNDROME

ACE, TGFBR1, TGFB2, BMP1, WNT7A, CHEK2, IGF1, CREBBP, TGFB1, THRA, ACAN, COL11A1, BMP2, WNT5A, MYCN, SOX9, EP300, CHAT, ROR2, BMP4, MGP, BMPR1B, COL2A1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, SCLEROSTEOSIS 1, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, CZECH DYSPLASIA, ACHONDROPLASIA, WEISSENBACHER-ZWEYMULLER SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, COLE-CARPENTER SYNDROME 1, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, 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, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARASIL SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, CATSHL SYNDROME, VAN BUCHEM DISEASE, DEJERINE-SOTTAS DISEASE, HYPOPHOSPHATASIA, INFANTILE, HEMOCHROMATOSIS TYPE 1, PYCNODYSOSTOSIS, MULTIPLE SYNOSTOSES SYNDROME 1, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, EXOSTOSES, MULTIPLE, TYPE 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RETT SYNDROME, CONGENITAL VARIANT, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, BRACHYDACTYLY, TYPE C, SADDAN, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, KEUTEL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DU PAN SYNDROME, LEPRECHAUNISM, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, BRACHYDACTYLY, TYPE A1, C, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, PARASTREMMATIC DWARFISM, 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}, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, THANATOPHORIC DYSPLASIA, TYPE I, FUHRMANN SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, OSSEOUS HETEROPLASIA, PROGRESSIVE, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, BRACHYDACTYLY, TYPE A1, D, RHEUMATOID ARTHRITIS, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATEMIC RICKETS, AR, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, ACHONDROGENESIS IB, TARSAL-CARPAL COALITION SYNDROME, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, VAN MALDERGEM SYNDROME 1, SPLIT-HAND/FOOT MALFORMATION 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SYMPHALANGISM, PROXIMAL, 1A, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CAFFEY DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 3B, LAMB-SHAFFER SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, BRACHYDACTYLY, TYPE E2, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, CHONDROSARCOMA, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, MUENKE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, HYPERPARATHYROIDISM, NEONATAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, TUBEROUS SCLEROSIS 2, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, GLYCOGEN STORAGE DISEASE VII, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, EXOSTOSES, MULTIPLE, TYPE 2, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ?SPONDYLOCOSTAL DYSOSTOSIS 6, VAN MALDERGEM SYNDROME 2, PSEUDOHYPOPARATHYROIDISM IA, METATROPIC DYSPLASIA, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PARIETAL FORAMINA 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, DISTAL, TATEYAMA TYPE, BRACHYDACTYLY, TYPE B2, PHYTANIC ACID STORAGE DISEASE, CRANIOSYNOSTOSIS, TYPE 2, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, SED, MAROTEAUX TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, OSTEOGENESIS IMPERFECTA, TYPE XVII, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ESTROGEN RESISTANCE, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, OSTEOLYSIS, FAMILIAL EXPANSILE, STICKLER SYNDROME, TYPE III, LADD SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, LEGG-CALVE-PERTHES DISEASE, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, BRACHYOLMIA TYPE 3, HOLT-ORAM SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HEMOPHILIA A, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC

SLC34A1, PEX14, GDF5, F2, WNT5A, DCHS1, COL1A1, GNAS, SOX5, AGT, COL11A2, CDK5, PTHLH, PHYH, EDN1, DDR2, SOX10, FGF23, NOG, EGR2, NPR2, COL10A1, BMP4, BMPER, JAG1, COL13A1, CREBBP, COL2A1, ACTA1, SOX9, EXT1, FGFR3, SLC26A2, RIPPLY2, FGF9, IRF5, SP7, P4HB, THRA, RYR1, MSX2, MMP13, IFNG, SPARC, IMPAD1, TGFBR1, TNFRSF11A, STAT3, INS, LRP6, CAV3, PFKM, ALPL, BMP1, WNT7A, IGF1, CTSK, PAX2, TGFB3, CASR, BMP2, TBX5, FOXG1, AKT1, MMP2, INPPL1, EXT2, FOXC2, TP53, TWIST1, DMP1, TRPV4, SLC9A3R1, CHRM3, DLX5, RUNX2, SCYL1, TNFSF11, HTRA1, NGF, FAT4, TGFB1, PIK3R2, SOST, PEX12, EIF2AK3, FGF10, ESR1, F8, INSR, COL6A1, CHAT, HRAS, MGP, SMAD3, BMPR1B, HSPG2, PEX7

IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, LEUKODYSTROPHY, HYPOMYELINATING, 4, PSEUDOHYPOPARATHYROIDISM IC, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, CAMURATI-ENGELMANN DISEASE, CORNELIA DE LANGE SYNDROME 3, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PERIODIC FEVER, FAMILIAL, LIEBENBERG SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?SECKEL SYNDROME 4, MICROPHTHALMIA, SYNDROMIC 6, METACHONDROMATOSIS, IMMUNODEFICIENCY 43, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HAJDU-CHENEY SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, COMPLEMENT FACTOR I DEFICIENCY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PAGET DISEASE OF BONE 3, COFFIN-SIRIS SYNDROME 3, BLAU SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME 3, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, OSSEOUS HETEROPLASIA, PROGRESSIVE, ANGELMAN SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, RHEUMATOID ARTHRITIS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME 2, TUBEROUS SCLEROSIS 2, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PSEUDOHYPOPARATHYROIDISM IA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, NASU-HAKOLA DISEASE, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, DUANE-RADIAL RAY SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, IVIC SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COLD-INDUCED SWEATING SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

RPL5, MMP2, EDNRA, SMARCA4, PRKCD, IL10, HNRNPK, CREBBP, IRF5, GNAS, TGFB1, SQSTM1, MECP2, STAT1, CLCF1, GJA1, HLA-DRB1, PITX1, STAT3, EDN1, HLA-B, BMP4, AKT1, SMARCB1, BTK, PRKDC, ESR1, B2M, APTX, CFI, IFNG, SALL4, HLA-C, PTPN11, EP300, TP53, HSPD1, HFE, TNFRSF1A, EXOSC3, TYROBP, RBPJ, RB1, TNFRSF11B, NOTCH2, NOD2, MALT1, INS, SMC3, CENPJ, PTEN, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ?DYSTONIA 23, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, OSTEOGENESIS IMPERFECTA, TYPE I, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE IV, DUCHENNE MUSCULAR DYSTROPHY, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE III, CAFFEY DISEASE, BLOOM SYNDROME, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 5, MICROPHTHALMIA, SYNDROMIC 6, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE II, LIEBENBERG SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, BANNAYAN-RILEY-RUVALCABA SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, PAGET DISEASE OF BONE 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, MYOCLONIC-ATONIC EPILEPSY, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, MYOTUBULAR MYOPATHY, X-LINKED, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, ANGELMAN SYNDROME, FUHRMANN SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COLE-CARPENTER SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, PITT-HOPKINS-LIKE SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PALLISTER-HALL SYNDROME, AU-KLINE SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, OCULODENTODIGITAL DYSPLASIA, RENAL TUBULAR DYSGENESIS, GLUTAMINE DEFICIENCY, CONGENITAL, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

NCF1, PEX14, SYT2, NGF, PRKCD, SLC34A1, COL1A1, SQSTM1, TGFB1, CACNA1B, SEC24D, GLUL, NRXN1, DVL1, AGT, CASK, DMD, PITX1, BMP2, PRKACA, CACNA1C, COLQ, WNT7A, AKT1, GJA1, SLC5A7, VAMP1, PPT1, MET, TP53, UBE3A, GCH1, HNRNPK, DNM2, CHAT, GLI3, SLC6A1, BMP4, GAD1, MUSK, STX16, ADCY6, GPHN, BLM, GNAI2, SNAP25, PTEN, PIK3R1

BARAITSER-WINTER SYNDROME 1, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, IMMUNODEFICIENCY 43, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, OCCIPITAL HORN SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, RHEUMATOID ARTHRITIS, OSTEOGENESIS IMPERFECTA, TYPE XV, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PAPILLORENAL SYNDROME, EMBERGER SYNDROME, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ?OTOFACIOCERVICAL SYNDROME 2, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, BRACHYDACTYLY, TYPE E2, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ABLEPHARON-MACROSTOMIA SYNDROME, HEMOCHROMATOSIS TYPE 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, AYME-GRIPP SYNDROME, COFFIN-SIRIS SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MENKES DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, METACHONDROMATOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MYHRE SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, C1R/C1S DEFICIENCY, COMBINED, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PALLISTER-HALL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

BRCA2, MMP2, WNT5A, RAG1, SQSTM1, RPL5, AGT, CDK5, PTHLH, PAX1, BTK, B2M, PSTPIP1, SMARCA4, BMP4, CREBBP, MAFB, RAG2, FANCD2, SMARCA2, ACTB, CHD7, SOX2, IL10, TWIST2, IRF5, FSHR, NOTCH1, MYCN, DAG1, GATA2, CBL, SMARCE1, IFNG, STAT1, WNT1, TGFBR1, EP300, HSPD1, RUNX2, T, WAS, BRAF, INS, SNAP25, PAX8, FCGR2A, GJA1, SMAD4, PAX2, C1R, HLA-DRB1, CTLA4, BMP2, TUBB, BRCA1, AKT1, CCND2, KRAS, VDR, TP53, GLI3, ITCH, EFNB1, MUSK, XRCC4, PTPN22, MAF, KIT, NR2F1, PTEN, PRKDC, NGF, PRKCD, CHEK2, PAX3, LAMC2, TGFB1, PTPN11, ATP7A, STAT3, HLA-B, SOS1, BLM, NKX3-2, PCNA, APC, LRP6, HRAS, HLA-C, MAPT, ADA, SMAD3, HSPG2, ESR1, MALT1, MTOR, PIK3R1

BARAITSER-WINTER SYNDROME 1, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, NICOLAIDES-BARAITSER SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SHORT SYNDROME, COCKAYNE SYNDROME, TYPE B, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HPRT-RELATED GOUT, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), HYPOPHOSPHATASIA, INFANTILE, NEMALINE MYOPATHY 5, AMISH TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, WARSAW BREAKAGE SYNDROME, CALCIFICATION OF JOINTS AND ARTERIES, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, SITOSTEROLEMIA, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, RAPADILINO SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP O, MENTAL RETARDATION, X-LINKED 102, DIAMOND-BLACKFAN ANEMIA 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LOEYS-DIETZ SYNDROME 3, FILS SYNDROME, OCCIPITAL HORN SYNDROME, ADAMS-OLIVER SYNDROME 3, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, ROTHMUND-THOMSON SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, COFFIN-SIRIS SYNDROME 4, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HEIMLER SYNDROME 2, CHOREOACANTHOCYTOSIS, MEIER-GORLIN SYNDROME 4, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, MILLER SYNDROME, [URIC ACID CONCENTRATION, SERUM, QTL1], NESTOR-GUILLERMO PROGERIA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ARTHROGRYPOSIS, DISTAL, TYPE 8, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE IX, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, ?MECKEL SYNDROME 12, LIANG DISTAL MYOPATHY, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, OVARIAN DYSGENESIS 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ZIMMERMANN-LABAND SYNDROME 2, ?AL-GAZALI-BAKALINOVA SYNDROME, HEMOCHROMATOSIS TYPE 1, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, ?HYDROLETHALUS SYNDROME 2, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 16, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MENTAL RETARDATION, X-LINKED 19, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, IMAGE SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MENKES DISEASE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, CRANIOSYNOSTOSIS, TYPE 2, SECKEL SYNDROME 1, ?SECKEL SYNDROME 8, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, NEUROFIBROMATOSIS, TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, HYPOPHOSPHATASIA, CHILDHOOD, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LESCH-NYHAN SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, MEIER-GORLIN SYNDROME 1, DYSTONIA-1, TORSION, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ARTHROGRYPOSIS, DISTAL, TYPE 2A, BANNAYAN-RILEY-RUVALCABA SYNDROME, CODAS SYNDROME, PARIETAL FORAMINA 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, COLE DISEASE, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

BRCA2, TOR1A, MYH14, ACTB, PEX14, NT5E, PEX6, RPL5, ALPL, ATP6V1B2, ENPP1, RECQL4, KIF14, EIF4A3, MYH7, KIF7, KIF1B, PSTPIP1, ERCC6, CHCHD10, DES, CDT1, WNK1, ABCG2, ERCC2, SPAST, MSX2, DYNC2H1, KIF1A, PTEN, ACTA1, SMARCA2, ATRX, GRIP1, SMARCA4, FSHR, ABCA12, DDX11, WRN, MAPT, KIF5A, TAF6, COPA, EXOSC8, KIF5C, MEGF10, LONP1, AP2S1, TNNT1, MYH8, PFKM, GMPPB, ABCG8, HSPD1, RBPJ, FANCA, TNNT2, RPS6KA3, STAT3, INS, SMC3, BANF1, DDX3X, HPRT1, PRPS1, MYH3, TAF1, SNIP1, STAT1, HDAC6, TNNT3, CTDP1, TGFB1, BMP2, PEX5, TUBB, BRCA1, AKT1, TUBB3, PRKDC, PPIB, VCP, TP53, SMARCAL1, SEC63, ATP1A3, SLC25A4, ABCC6, DNA2, CTNS, CDKN1C, HSPA9, NF1, RAD51C, DYNC1H1, DHODH, ADK, NHP2, PEX1, PRKCD, IGHMBP2, VPS13A, ACTG1, LAMA2, KIF22, CENPE, ATP7A, ABCG5, SPTLC1, ORC1, FXN, INSR, ENTPD1, AKT3, POLE, FMR1, BLM, ABCC9, FANCC, RTEL1, PCNA, CLASP1, PEX19, ABCC8, PMPCA, ADA, COL4A3BP, SMAD3, ATR, ESR1, PIK3R1, CASK, SURF1

CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, PEUTZ-JEGHERS SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CAFFEY DISEASE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PITT-HOPKINS SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, 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, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ADAMS-OLIVER SYNDROME 3, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, WAARDENBURG SYNDROME, TYPE 3, HOLT-ORAM SYNDROME, BRACHYDACTYLY, TYPE A1, D, SPLIT-HAND/FOOT MALFORMATION 1, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ?OSTEOGENESIS IMPERFECTA, TYPE XII, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, CLEFT PALATE, ISOLATED, LAMB-SHAFFER SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, DENTAL ANOMALIES AND SHORT STATURE, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, BRACHYDACTYLY, TYPE A2, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, CRANIOSYNOSTOSIS, TYPE 2, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, GELEOPHYSIC DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, ACROMICRIC DYSPLASIA, ESTROGEN RESISTANCE, LOEYS-DIETZ SYNDROME 4, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, LADD SYNDROME, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, PARIETAL FORAMINA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, PROTEUS SYNDROME, SOMATIC

SOX9, IHH, TGFB2, SMARCA4, HNF1B, SMAD4, NOTCH1, SP7, P4HB, TGFB1, GLI3, PAX2, COL1A1, SOX5, TGFB3, TBX3, AGT, BMP2, TCF4, CRB2, TBX5, AKT1, SOX2, KDM6A, PAX8, COPA, CREBBP, STK11, DVL1, TP53, RUNX2, PDGFRA, FBN1, TGFBR1, EP300, TWIST1, LRP6, HRAS, BMP4, CDC73, JAG1, NOTCH3, ESR1, IGF1, TGFBR2, SMAD3, LTBP3, BMPR1B, FGF10, STAT3, MSX2, DLX5, RBPJ, EZH2, PAX3, MMP2

IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, LEUKODYSTROPHY, HYPOMYELINATING, 4, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, METACHONDROMATOSIS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, IMMUNODEFICIENCY 43, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PAGET DISEASE OF BONE 3, BLAU SYNDROME, ANGELMAN SYNDROME, ESTROGEN RESISTANCE, RHEUMATOID ARTHRITIS, TUBEROUS SCLEROSIS 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, LEOPARD SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME

MALT1, HLA-C, MECP2, NOD2, TP53, IL10, B2M, CREBBP, HFE, ESR1, HLA-B, HNRNPK, PTPN11, SQSTM1, HSPD1, IFNG, HRAS

IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, LEUKODYSTROPHY, HYPOMYELINATING, 4, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PERIODIC FEVER, FAMILIAL, SHORT SYNDROME, HAJDU-CHENEY SYNDROME, IMMUNODEFICIENCY 43, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DIAMOND-BLACKFAN ANEMIA 6, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PAGET DISEASE OF BONE 3, BLAU SYNDROME, ADAMS-OLIVER SYNDROME 3, RHEUMATOID ARTHRITIS, TUBEROUS SCLEROSIS 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, DUANE-RADIAL RAY SYNDROME, NASU-HAKOLA DISEASE, ?SECKEL SYNDROME 4, RUBINSTEIN-TAYBI SYNDROME, IVIC SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

IL10, SQSTM1, TGFB1, NOTCH2, RPL5, STAT3, HLA-B, HRAS, B2M, IFNG, SALL4, HSPD1, RBPJ, TNFRSF1A, HLA-C, TYROBP, CREBBP, NOD2, PIK3R1, HFE, CENPJ, MALT1

ADAMS-OLIVER SYNDROME 5, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WEAVER SYNDROME, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, SPONDYLOCOSTAL DYSOSTOSIS 5, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ADAMS-OLIVER SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, CZECH DYSPLASIA, HYPOPHOSPHATASIA, CHILDHOOD, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CRANIOSYNOSTOSIS, TYPE 2, DIGEORGE SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, EHLERS-DANLOS SYNDROME, TYPE 3, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, AVASCULAR NECROSIS OF THE FEMORAL HEAD, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, STICKLER SYNDROME, TYPE I, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, VELOCARDIOFACIAL SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, RUBINSTEIN-TAYBI SYNDROME 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEGG-CALVE-PERTHES DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, CORNELIA DE LANGE SYNDROME 1, PARIETAL FORAMINA 1, HOLT-ORAM SYNDROME, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, ROBINOW SYNDROME

TBX1, ALPL, GJA1, COPA, SMAD4, NOTCH1, TBX3, RYR1, BMP2, TBX5, WNT5A, MSX2, NIPBL, COL2A1, EZH2, EP300, TBX6, SOX11, BMP4, T, SMAD3, TFAP2A, ALB, ESR1, GNAI2, INS, RBPJ, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ADAMS-OLIVER SYNDROME 5, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, OSTEOGENESIS IMPERFECTA, TYPE I, COLE-CARPENTER SYNDROME 1, CAFFEY DISEASE, KOSAKI OVERGROWTH SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, [URIC ACID CONCENTRATION, SERUM, QTL1], KNOBLOCH SYNDROME 1, TATTON-BROWN-RAHMAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, OSTEOGENESIS IMPERFECTA, TYPE III, LOEYS-DIETZ SYNDROME 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CORNELIA DE LANGE SYNDROME 4, ASPARAGINE SYNTHETASE DEFICIENCY, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, 46,XX SEX REVERSAL, TYPE 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, OSTEOGENESIS IMPERFECTA, TYPE II, PREMATURE AGING SYNDROME, PENTTINEN TYPE, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, EHLERS-DANLOS SYNDROME, TYPE 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FUHRMANN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PITUITARY ADENOMA, ACTH-SECRETING, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, RUBINSTEIN-TAYBI SYNDROME 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, BETHLEM MYOPATHY 1, WAARDENBURG SYNDROME, TYPE 4C, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PCWH SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CLEFT PALATE, ISOLATED, GLUTAMINE DEFICIENCY, CONGENITAL, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPERPARATHYROIDISM, NEONATAL, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JOHANSON-BLIZZARD SYNDROME, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, F2, SMARCA4, PRKCD, WNT7A, COL1A1, SMAD4, RAD21, P4HB, MMP2, COL3A1, COL17A1, GLUL, HDAC6, ASNS, CASR, AGT, MTOR, MTHFR, INSR, COL5A2, COL6A1, EDN1, CYBA, SOX2, SOX10, DNMT1, DNMT3A, IGF1R, IFNG, PDGFRA, PCNA, COL18A1, EP300, COL1A2, UBR1, HSPD1, AKT1, NOTCH1, AARS, ABCG2, PDGFRB, SMAD3, IGF1, TNFRSF1A, STAT3, GNAI2, INS, LRP6, TP53, PTEN, COL7A1

ADAMS-OLIVER SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, AURICULOCONDYLAR SYNDROME 3, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BRANCHIOOCULOFACIAL SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EHLERS-DANLOS SYNDROME, TYPE 3, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, 46,XX SEX REVERSAL, TYPE 2, ALAGILLE SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LOEYS-DIETZ SYNDROME 3, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2

SOX9, EDN1, FOXC2, JAG1, SMAD3, NGF, ERBB3, CREBBP, TFAP2A, EP300, EDNRA, RUNX2, SOX11, GSC, NOTCH1

BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PITUITARY DEPENDENT HYPERCORTISOLISM, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, OSTEOLYSIS, FAMILIAL EXPANSILE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, BROWN-VIALETTO-VAN LAERE SYNDROME 2, ATELOSTEOGENESIS, TYPE I, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, GELEOPHYSIC DYSPLASIA 2, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), SICKLE CELL ANEMIA, DIAMOND-BLACKFAN ANEMIA 7, DEJERINE-SOTTAS DISEASE, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OTOPALATODIGITAL SYNDROME, TYPE II, PYCNODYSOSTOSIS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, SPLIT-HAND/FOOT MALFORMATION 4, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, SINGLETON-MERTEN SYNDROME 1, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, MEIER-GORLIN SYNDROME 5, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, RENAL TUBULAR DYSGENESIS, CLEFT PALATE, ISOLATED, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, NASU-HAKOLA DISEASE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, 3MC SYNDROME 1, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, 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, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CAPOS SYNDROME, OCULOECTODERMAL SYNDROME, RUBINSTEIN-TAYBI SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, DIAMOND-BLACKFAN ANEMIA 6, CINCA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, FRONTOMETAPHYSEAL DYSPLASIA, 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}, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, INCONTINENTIA PIGMENTI, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, STICKLER SYNDROME, TYPE I, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, VAN DEN ENDE-GUPTA SYNDROME, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LADD SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, HAY-WELLS SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, C1R/C1S DEFICIENCY, COMBINED, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, KLEEFSTRA SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, VITAMIN D-DEPENDENT RICKETS, TYPE I, NESTOR-GUILLERMO PROGERIA SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, PSORIASIS 14, PUSTULAR, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, AYME-GRIPP SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, ?DYSTONIA, JUVENILE-ONSET, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SED CONGENITA, KNIEST DYSPLASIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, ?MUCOPOLYSACCHARIDOSIS TYPE IX, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, BERGER DISEASE, HYPERPARATHYROIDISM, NEONATAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, HEMOPHILIA A, NICOLAIDES-BARAITSER SYNDROME, PERRAULT SYNDROME 5, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, TUBEROUS SCLEROSIS 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, KENNY-CAFFEY SYNDROME, TYPE 2, HEMOCHROMATOSIS TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, BLAU SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, SINGLETON-MERTEN SYNDROME 2, CLOVE SYNDROME, SOMATIC, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, RENPENNING SYNDROME, GRACILE BONE DYSPLASIA, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, TATTON-BROWN-RAHMAN SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, METACHONDROMATOSIS, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MUCKLE-WELLS SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, EMBERGER SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PAGET DISEASE OF BONE 3, OSTEOGENESIS IMPERFECTA, TYPE XVII, ACROMICRIC DYSPLASIA, ADULT SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, AICARDI-GOUTIERES SYNDROME 5, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, MASA SYNDROME, CRASH SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, KOSAKI OVERGROWTH SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ATELOSTEOGENESIS, TYPE III, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

PDE4D, PEX14, NEU1, F2, HBB, WNT5A, HSPB1, MMP1, PRKACA, ACTB, IGBP1, IKBKG, CTSA, RPL5, KCNJ11, AGT, MUC5B, CDK5, FAM111A, CCT5, PRKAR1A, EDN1, GJA1, BTK, B2M, EGR2, EFEMP2, RAB7A, PROK2, DNM2, PIK3CA, MMP2, BMP4, CDC73, POR, TYROBP, HNRNPA1, PDGFRB, SMAD4, NGF, GNAI2, RBPJ, SPAST, ACTA1, ACE, IFIH1, TGFB2, F13A1, KRAS, ERBB3, CBL, LZTR1, CALCR, IRF5, IGF2, SQSTM1, HYAL1, GCH1, NR1I3, DAG1, CIITA, GATA2, EDNRA, SCARF2, COL1A2, COPA, C1R, IL10, COL2A1, CARD9, MET, ABCC9, IFNG, ACP5, SPARC, DVL1, ICK, NCF2, EP300, HSPD1, SAMHD1, TMEM173, ALPL, T, NLRC4, FANCA, NLRP1, TNFRSF11A, CREBBP, BIN1, RPS6KA3, TP63, DVL3, NFKBIL1, DNMT3A, INS, ABCC8, LRP6, MALT1, GATA1, COL3A1, NCF1, BANF1, PFKM, DDX3X, REN, SMARCA2, IGF1, AGTR1, CTSK, MECP2, CYP27B1, HLA-DRB1, HDAC6, FLNA, CASR, CTSD, PQBP1, OTX2, LIAS, SLC52A2, BMP2, TNFRSF1A, IL36RN, PTHLH, AKT1, CCND2, SMARCA4, TPI1, PRKDC, CYBB, PPIB, VCP, WAS, KARS, SEC63, ATP1A3, SSR4, GLI3, CDC6, LITAF, ITCH, TSHR, HSPA9, EFNB1, TUBB3, PTEN, IL1RN, HAMP, MAF, NOD2, DLX5, STAT3, RUNX2, GSC, VDR, DDX41, TNFSF11, SETX, PRKCD, UBB, HNRNPK, ACTG1, ALB, PIK3R2, TGFB1, PRKCSH, PTPN11, TNFAIP3, DDX58, SPG7, FGF10, SPTLC1, STAT1, ESR1, F8, INSR, HLA-B, NOTCH1, MASP1, TP53, DNMT1, PLCG2, RB1, CYBA, RPL11, L1CAM, PCNA, FBN1, IGF1R, HFE, HRAS, HLA-C, MAPT, SFTPC, NHP2, SMAD3, IRF6, HSPG2, NLRP3, PIGR, C10orf2, FLNB, MTOR, PIK3R1

PAPILLORENAL SYNDROME, HARTSFIELD SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, DIGEORGE SYNDROME, OSTEOGLOPHONIC DYSPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MICROPHTHALMIA, SYNDROMIC 6, COFFIN-SIRIS SYNDROME 4, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, VELOCARDIOFACIAL SYNDROME, LOEYS-DIETZ SYNDROME 3, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, BRACHYDACTYLY, TYPE A2, PARIETAL FORAMINA 2, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, JACKSON-WEISS SYNDROME, LADD SYNDROME, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, FRONTONASAL DYSPLASIA 2, HOLT-ORAM SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, SPLIT-HAND/FOOT MALFORMATION 1, TRIGONOCEPHALY 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, PROTEUS SYNDROME, SOMATIC

SMARCA4, TBX1, BMP4, FGF9, TBX5, HOXA11, FGF10, FGFR1, WNT5A, SMAD3, STAT3, BMP2, DLX5, ALX4, EP300, GLI3, AKT1, RUNX2, PAX2

BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, BRACHYDACTYLY, TYPE A1, D, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MICROPHTHALMIA, SYNDROMIC 6, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, 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, BLAU SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, HEMOCHROMATOSIS TYPE 1, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FAMILIAL MEDITERRANEAN FEVER, AR, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, TRIGONOCEPHALY 1, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, OSTEOGENESIS IMPERFECTA, TYPE IV, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, JACKSON-WEISS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CORNELIA DE LANGE SYNDROME 2, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TUBEROUS SCLEROSIS 2, HERMANSKY-PUDLAK SYNDROME 2, VAN DEN ENDE-GUPTA SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, WIEDEMANN-STEINER SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPERPARATHYROIDISM, NEONATAL, PERRAULT SYNDROME 5, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PARASTREMMATIC DWARFISM, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, HYPERTHYROIDISM, NONAUTOIMMUNE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SCHAAF-YANG SYNDROME, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMAGE SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, INCONTINENTIA PIGMENTI, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FAMILIAL MEDITERRANEAN FEVER, AD, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, HAJDU-CHENEY SYNDROME, SED, MAROTEAUX TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NOONAN SYNDROME 7, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, METACHONDROMATOSIS, RUBINSTEIN-TAYBI SYNDROME 2, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CAV3, EDN1, NF2, TGFBR1, F2, TRPV4, NGF, SHOC2, PRKACA, EP300, PTEN, ACTG1, AGTR1, ACTB, FSHR, SQSTM1, TGFB1, CHRM3, NOTCH2, MAPT, FLNA, STAT1, HDAC6, PTPN11, AP3B1, AGT, NTRK1, DMD, FGFR1, NOD2, CDK5, PCNA, BMP2, CASR, PRKAR1A, TNFRSF1A, CFL2, MTOR, AKT1, BIN1, TPI1, MEFV, DNMT1, ESR1, GJA1, KISS1R, MAGEL2, SPAST, CBL, WAS, SCARF2, PSTPIP1, IKBKG, LRP2, PFKM, PROK2, DNM2, DES, COL1A2, APC, SMC3, HRAS, BMP4, SERPINF2, CDKN1C, BMPER, ZBTB16, TSHR, FRZB, IFNG, RUNX2, MUSK, SMC1A, SMAD3, NPR2, BMPR1B, BRAF, STAT3, TGFBR2, C10orf2, NOTCH1, ABCC8, RB1

MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, PAPILLORENAL SYNDROME, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, RUBINSTEIN-TAYBI SYNDROME 2, PCWH SYNDROME, BRACHYDACTYLY, TYPE A2, BRANCHIOOCULOFACIAL SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BRACHYDACTYLY, TYPE B1, WAARDENBURG SYNDROME, TYPE 4C, ROBINOW SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT

ACAN, WNT5A, TFAP2A, ROR2, BMP2, SOX10, BRCA1, EP300, SOX11, PAX2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, BRACHYDACTYLY, TYPE A1, D, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, ADAMS-OLIVER SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ALSTROM SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, NEMALINE MYOPATHY 5, AMISH TYPE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PERRAULT SYNDROME 5, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, DUCHENNE MUSCULAR DYSTROPHY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, DONNAI-BARROW SYNDROME, 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, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, CAFFEY DISEASE, BLAU SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, OPITZ GBBB SYNDROME, TYPE II, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, HEMOCHROMATOSIS TYPE 1, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FAMILIAL MEDITERRANEAN FEVER, AR, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IA, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, TRIGONOCEPHALY 1, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, NASU-HAKOLA DISEASE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, EHLERS-DANLOS SYNDROME, TYPE 3, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, IMMUNODEFICIENCY 43, MULIBREY NANISM, CINCA SYNDROME, PHELAN-MCDERMID SYNDROME, RUBINSTEIN-TAYBI SYNDROME, PARASTREMMATIC DWARFISM, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, FUHRMANN SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, OTOPALATODIGITAL SYNDROME, TYPE II, JACKSON-WEISS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, CORNELIA DE LANGE SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, VAN DEN ENDE-GUPTA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MECKEL SYNDROME 4, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, SHWACHMAN-DIAMOND SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, LOWE SYNDROME, HARTSFIELD SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CORNELIA DE LANGE SYNDROME 4, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, SCHAAF-YANG SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, AURICULOCONDYLAR SYNDROME 1, WIEDEMANN-STEINER SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, MECKEL SYNDROME 3, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, OSTEOGENESIS IMPERFECTA, TYPE IV, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, HYPERTHYROIDISM, NONAUTOIMMUNE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ?SECKEL SYNDROME 4, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMAGE SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, INCONTINENTIA PIGMENTI, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MYOPATHY, DISTAL, TATEYAMA TYPE, METACHONDROMATOSIS, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FAMILIAL MEDITERRANEAN FEVER, AD, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, MUCKLE-WELLS SYNDROME, HAJDU-CHENEY SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SED, MAROTEAUX TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MECKEL SYNDROME 10, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, PAGET DISEASE OF BONE 3, BRACHYDACTYLY, TYPE A2, NOONAN SYNDROME 7, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE XV, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, 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, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MASA SYNDROME, CRASH SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?FACIAL CLEFTING, OBLIQUE, 1, SMITH-KINGSMORE SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, F2, EDNRA, NCF1, COL1A1, RAD21, ACTB, SEMA3E, IKBKG, COL1A2, FTL, AGT, GNAI3, CDK5, ASCC1, PRKAR1A, CALCR, EDN1, B2M, KISS1R, DST, CDKN1C, CLASP1, NPR2, PROK2, DNM2, DES, BMP4, BMPER, TYROBP, MEFV, PDGFRB, SMAD4, CREBBP, OCRL, GNAI2, SPECC1L, PTEN, ACTA1, WNT7A, NF2, GRIP1, TRPV4, ERBB3, B9D2, LZTR1, CAPN3, FSHR, AGTR1, GNAS, NOTCH1, MAPT, TPM3, FGFR1, CHRM3, MET, SQSTM1, SCARF2, PAX2, CFL2, NLRP3, CBL, MMP13, IFNG, STAT1, TNNT1, WNT1, TGFBR1, EP300, TGFB3, RBPJ, TNFRSF1A, NLRC4, TSHR, ESR1, RB1, RPS6KA3, STAT3, BRAF, ABCC8, IGF1, VPS33B, CAV3, PFKM, SHOC2, HNF1B, INPP5E, SPAST, SBDS, SHANK3, CEP290, HLA-DRB1, HDAC6, CASR, DMD, KIF1B, RAPSN, BMP2, BRCA1, AKT1, CCND2, BIN1, TPI1, DVL1, WAS, KARS, LRP2, EZH2, SMC1A, MAGEL2, PSTPIP1, ZBTB16, TUBB3, MUSK, ALMS1, SLC9A3R1, NOD2, INPPL1, DYNC1H1, RUNX2, CENPJ, ITCH, SSR4, FLNA, NGF, PRKCD, FRZB, HNRNPK, PAX3, ACTG1, NTRK1, PTPN11, VCP, AP3B1, TGFB1, TSC1, PRKACA, NOTCH2, SOS1, TP53, DNMT1, TRIM37, PDGFRA, L1CAM, PCNA, APC, SMC3, HRAS, TMEM67, SERPINF2, SMAD3, BMPR1B, HSPG2, NEB, TGFBR2, C10orf2, KIF1BP, MTOR, PIK3R1

BARAITSER-WINTER SYNDROME 1, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NESTOR-GUILLERMO PROGERIA SYNDROME, NEMALINE MYOPATHY 5, AMISH TYPE, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, COCKAYNE SYNDROME, TYPE B, MYOTUBULAR MYOPATHY, X-LINKED, 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, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, MYHRE SYNDROME, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), LEOPARD SYNDROME 3, OVARIAN DYSGENESIS 1, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), HYPOPHOSPHATASIA, INFANTILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ?BARDET-BIEDL SYNDROME 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, AURICULOCONDYLAR SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, BERGER DISEASE, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL TUBULAR DYSGENESIS, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, SITOSTEROLEMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, BALLER-GEROLD SYNDROME, OCCIPITAL HORN SYNDROME, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SECKEL SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?AL-GAZALI-BAKALINOVA SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 8, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, FANCONI ANEMIA, COMPLEMENTATION GROUP O, PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, DIAMOND-BLACKFAN ANEMIA 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, CRANIOSYNOSTOSIS, TYPE 2, FRONTOMETAPHYSEAL DYSPLASIA, KENNY-CAFFEY SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 3, FILS SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ADAMS-OLIVER SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, RHEUMATOID ARTHRITIS, MYASTHENIC SYNDROME, CONGENITAL, 16, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, BEHR SYNDROME, TUBEROUS SCLEROSIS 2, SYNDACTYLY, TYPE V, BRACHYDACTYLY, TYPE E, HERMANSKY-PUDLAK SYNDROME 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HEIMLER SYNDROME 2, CHOREOACANTHOCYTOSIS, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, {PSORIASIS SUSCEPTIBILITY 1}, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, WARBURG MICRO SYNDROME 3, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, [URIC ACID CONCENTRATION, SERUM, QTL1], LOWE SYNDROME, BURN-MCKEOWN SYNDROME, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, CORNELIA DE LANGE SYNDROME 4, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, OTOPALATODIGITAL SYNDROME, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, OSTEOGENESIS IMPERFECTA, TYPE IX, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, AURICULOCONDYLAR SYNDROME 1, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 1, WARSAW BREAKAGE SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ZIMMERMANN-LABAND SYNDROME 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HEMOCHROMATOSIS TYPE 1, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, LIANG DISTAL MYOPATHY, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ?HYDROLETHALUS SYNDROME 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROFIBROMATOSIS, TYPE 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, WAARDENBURG SYNDROME, TYPE 3, MEIER-GORLIN SYNDROME 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, LOEYS-DIETZ SYNDROME 1, ?MECKEL SYNDROME 12, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SMITH-MCCORT DYSPLASIA 2, IMAGE SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, CODAS SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, PARIETAL FORAMINA 1, POLYCYSTIC LIVER DISEASE, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, ?SECKEL SYNDROME 8, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, HYPOPHOSPHATASIA, CHILDHOOD, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, BRACHYDACTYLY, TYPE A2, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, NOONAN SYNDROME 7, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MEIER-GORLIN SYNDROME 1, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, DYSTONIA-1, TORSION, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, ?JOUBERT SYNDROME 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, COLE DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CA2, TSC2, BRCA2, DNM2, SQSTM1, MYH14, RAD21, PRKACA, ACTB, ITGB4, PEX14, GNAS, IKBKG, CDT1, PEX6, RPL5, ALPL, ATP6V1B2, ENPP1, TUBB, GNAI3, CDK5, TRAPPC2, PRKAR1A, UBA1, RECQL4, KIF14, EIF4A3, IGHMBP2, TBCE, KIF7, KIF1B, NF1, RAB7A, CHCHD10, TRIM32, DES, PIK3CA, SOS1, WNK1, ABCG2, ERCC2, OCRL, MYH3, MSX2, GNAI2, DYNC2H1, ATL3, KIF1A, NONO, ACTA1, SMARCA2, NF2, MFN2, TNNT3, ACVR1, KRAS, COPA, ABCA12, MYH7, NME1, FSHR, DDX11, WRN, PIGT, GCH1, MAPT, CIITA, MTOR, HLA-DRB1, KIF5A, TAF6, EXOSC8, KIF5C, MEGF10, LONP1, MET, IFNG, TPM2, AP2S1, TNNT1, FANCC, TGFBR1, GMPPB, ABCG8, HSPD1, RBPJ, EFTUD2, TSHR, TNNT2, RAB18, PCNA, RPS6KA3, AGT, STAT3, VCP, BRAF, INS, ABCC8, SNAP25, RAB33B, PIGR, VPS33B, BANF1, ATL1, DDX3X, REN, NRAS, AP4M1, SMAD4, CLASP1, CBS, TAF1, SNIP1, STAT1, HDAC6, GRIP1, CASR, CTDP1, CTSD, SMARCAL1, PEX5, BMP2, PMPCA, SSR4, AKT1, TUBB3, SMARCA4, TXNL4A, PRKDC, PPIB, DDX58, RAB23, TP53, SEC63, ATP1A3, SLC25A4, ABCC6, DNA2, EDN1, CTNS, CDKN1C, FANCA, HSPA9, PTEN, RAD51C, SLC9A3R1, CHRM3, TGFB1, DYNC1H1, ERCC6, COL4A3BP, PFKM, PEX1, IRF5, FLNA, NGF, PRKCD, B2M, VPS13A, PAX3, ACTG1, SMC3, LAMA2, ABCG5, PIK3R2, CENPE, DVL1, ATP7A, IFT27, KIF22, SPTLC1, WAS, ORC1, FXN, INSR, ENTPD1, ATRX, POLE, BLM, SPAST, ABCC9, MYH8, RTEL1, OPA1, TOR1A, PDE6D, PEX19, PSTPIP1, HRAS, HACE1, HOXD13, HLA-C, AP3B1, NHP2, SMAD3, ATR, EXOC8, ESR1, PIK3R1, TINF2, CASK, SURF1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, BRACHYDACTYLY, TYPE A1, D, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PITUITARY DEPENDENT HYPERCORTISOLISM, 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, MULTIPLE ENDOCRINE NEOPLASIA IIB, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME 3, MULTIPLE SYNOSTOSES SYNDROME 1, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, KABUKI SYNDROME 2, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, ULNAR-MAMMARY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LIEBENBERG SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, SYMPHALANGISM, PROXIMAL, 1A, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, SPLIT-HAND/FOOT MALFORMATION 6, CRANIOSYNOSTOSIS 6, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, STIFF SKIN SYNDROME, TARSAL-CARPAL COALITION SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WAARDENBURG SYNDROME, TYPE 3, LIMB-MAMMARY SYNDROME, HOLT-ORAM SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MECKEL SYNDROME 4, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, CHAR SYNDROME, CULLER-JONES SYNDROME, WEAVER SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, VITAMIN D-DEPENDENT RICKETS, TYPE I, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, BRACHYDACTYLY, TYPE E2, COFFIN-SIRIS SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ?MULTIPLE SYNOSTOSES SYNDROME 3, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, CORNELIA DE LANGE SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, VAN MALDERGEM SYNDROME 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BRACHYDACTYLY, TYPE B2, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, 46,XX SEX REVERSAL, TYPE 2, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, HAY-WELLS SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CRANIOSYNOSTOSIS, TYPE 2, MYHRE SYNDROME, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, ADULT SYNDROME, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, LADD SYNDROME, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PARIETAL FORAMINA 1, GELEOPHYSIC DYSPLASIA 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WEILL-MARCHESANI SYNDROME 2, DOMINANT, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, DNM2, MMP2, SMARCA4, TP53, GLI2, CHEK2, SMAD4, CREBBP, FAT4, WNT5A, TGFB1, TAF1, PAX2, MSX2, CYP27B1, STAT1, FGF9, GSC, TBX3, FGF10, PAX8, GATA2, PITX1, STAT3, ZIC1, MET, OTX2, PTHLH, NOTCH1, TBX5, TFAP2B, BMP2, NGF, KDM6A, SOS1, VDR, ESR1, MYH7, BRCA1, SALL1, GNAI2, NOG, IFNG, MYCN, FBN1, CEP290, RET, EP300, FBLN1, GLI3, APC, AKT1, HRAS, BMP4, TFAP2A, ITCH, FRZB, TGFBR2, PRKACA, IGF1, MYH2, SMAD3, PAX3, BMPR1B, BTK, HSPG2, BRAF, TP63, KMT2A, WNT10B, SOX2, INS, RUNX2, EZH2, SF3B4, RB1, AHI1

LYSYL HYDROXYLASE 3 DEFICIENCY, BASAL CELL NEVUS SYNDROME, DONNAI-BARROW SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, THANATOPHORIC DYSPLASIA, TYPE II, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CZECH DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, THANATOPHORIC DYSPLASIA, TYPE I, MENTAL RETARDATION, X-LINKED 102, MICROPHTHALMIA, SYNDROMIC 6, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, POPLITEAL PTERYGIUM SYNDROME 1, 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, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, CAFFEY DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, RUBINSTEIN-TAYBI SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, PEUTZ-JEGHERS SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 3, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PARIETAL FORAMINA 2, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, DEJERINE-SOTTAS DISEASE, HYPOPHOSPHATASIA, INFANTILE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MULTIPLE SYNOSTOSES SYNDROME 1, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, KABUKI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DUANE-RADIAL RAY SYNDROME, TRIGONOCEPHALY 1, ESTROGEN RESISTANCE, 46,XX SEX REVERSAL, TYPE 2, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SADDAN, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, OSTEOGENESIS IMPERFECTA, TYPE IV, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, BENT BONE DYSPLASIA SYNDROME, INCONTINENTIA PIGMENTI, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HYPOCHONDROPLASIA, SPLIT-HAND/FOOT MALFORMATION 4, MECKEL SYNDROME 10, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ARTHROGRYPOSIS, DISTAL, TYPE 8, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, IMMUNODEFICIENCY 43, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CORNELIA DE LANGE SYNDROME 4, PSEUDOHYPOPARATHYROIDISM IC, LOEYS-DIETZ SYNDROME 3, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, ?MECKEL SYNDROME 9, ?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, ADAMS-OLIVER SYNDROME 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, VELOCARDIOFACIAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, JACKSON-WEISS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, OHDO SYNDROME, X-LINKED, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, MYHRE SYNDROME, PRADER-WILLI SYNDROME, TARSAL-CARPAL COALITION SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SYNDACTYLY, TYPE V, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, STICKLER SYNDROME, TYPE I, BRACHYDACTYLY, TYPE E, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, VAN DEN ENDE-GUPTA SYNDROME, LIMB-MAMMARY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, BARAITSER-WINTER SYNDROME 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MECKEL SYNDROME 4, SPLIT-HAND/FOOT MALFORMATION 1, BRACHYDACTYLY, TYPE A1, HAY-WELLS SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, RENAL ADYSPLASIA, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HOLOPROSENCEPHALY-9, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, AYME-GRIPP SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOGENESIS IMPERFECTA, TYPE XII, IMAGE SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SED CONGENITA, PITUITARY DEPENDENT HYPERCORTISOLISM, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, BRACHYDACTYLY, TYPE A2, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MECKEL SYNDROME 3, MUENKE SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, HYPERPARATHYROIDISM, NEONATAL, TRICHODONTOOSSEOUS SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ALAGILLE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACROCAPITOFEMORAL DYSPLASIA, 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, LOEYS-DIETZ SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, NAIL-PATELLA SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, PSEUDOHYPOPARATHYROIDISM IA, OPITZ-KAVEGGIA SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, SPONDYLOCOSTAL DYSOSTOSIS 5, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LUJAN-FRYNS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, CRANIOSYNOSTOSIS, TYPE 2, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RAINE SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, BRACHYDACTYLY, TYPE A1, D, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, IVIC SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, PAGET DISEASE OF BONE 3, ROUSSY-LEVY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ACROMICRIC DYSPLASIA, ADULT SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, DIGEORGE SYNDROME, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE XV, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, HYPEREKPLEXIA HEREDITARY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, SYMPHALANGISM, PROXIMAL, 1A, LEGG-CALVE-PERTHES DISEASE, APERT SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, BANNAYAN-RILEY-RUVALCABA SYNDROME, PALLISTER-HALL SYNDROME, MASA SYNDROME, CRASH SYNDROME, PARIETAL FORAMINA 1, LADD SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, GELEOPHYSIC DYSPLASIA 2, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WEILL-MARCHESANI SYNDROME 2, DOMINANT, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, WAARDENBURG SYNDROME, TYPE 4C, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, FGFR1, WNT5A, COL1A1, SALL1, RAD21, ACTB, GNAS, IKBKG, LHX4, COL1A2, ALPL, AGT, MUC5B, CDK5, OTX2, PTHLH, EDN1, BTK, B9D1, B2M, STK11, NOG, SCARF2, SALL4, BMP4, KISS1, SMARCA4, TGM1, EFEMP2, JAG1, ERCC2, SMAD4, MYH3, CREBBP, GNAI2, RBPJ, SF3B4, HOXD13, ACTA1, VRK1, NF2, ACVR1, KRAS, KDM6A, ERBB3, B9D2, LZTR1, SP7, SQSTM1, NOTCH1, THRA, PTRF, DAG1, GLI2, GATA2, KIF5A, TAF6, EGR2, PAX2, MSX2, COL17A1, DSP, PLOD3, ITGA6, MMP13, STAT1, CRYAB, TGFBR1, EP300, TAF1, HSPD1, THRB, ROR2, T, ZBTB16, RB1, RPS6KA3, GPHN, DUSP6, TBX1, INS, LRP6, PAX8, GATA1, PTCH1, FAM20C, DDX3X, SOX9, HNF1B, IGF1, SNRPB, DVL3, CEP290, LMX1B, KLC2, CASR, HNF4A, BMP2, NDN, AKT1, CCND2, SOX2, PRKDC, FOXC2, IGF1R, TP53, MYH2, FBN1, LRP2, IHH, GLI3, POLD1, CDKN1C, NONO, FGFR3, FGF9, MAF, SOX10, DLX5, KIT, STAT3, RUNX2, COL2A1, AHI1, VDR, FLNA, SMAD3, NGF, FRZB, HNRNPK, PAX3, ACTG1, BMPR1B, PMP22, TGFB1, PRKCSH, DVL1, FGF10, UPK3A, TP63, HLA-B, MED12, TAF2, DNMT1, ITCH, FGFR2, ALX4, WNT1, L1CAM, PCNA, RET, TBX6, SOX11, PTEN, HRAS, TMEM67, DLX3, MYH11, IRF6, HSPG2, EXOC8, ESR1, TGFBR2, PEX5

ADAMS-OLIVER SYNDROME 5, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CAMURATI-ENGELMANN DISEASE, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LIEBENBERG SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LOEYS-DIETZ SYNDROME 3, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, RENAL ADYSPLASIA, LIANG DISTAL MYOPATHY, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SPLIT-HAND/FOOT MALFORMATION 6, CRANIOSYNOSTOSIS 6, CARDIOFACIOCUTANEOUS SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, MULTIPLE ENDOCRINE NEOPLASIA IIB, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, LOEYS-DIETZ SYNDROME 2, LEOPARD SYNDROME 3, LADD SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, TUBEROUS SCLEROSIS 2, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC