SKELETAL

LOEYS-DIETZ SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, HARTSFIELD SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CAFFEY DISEASE, DU PAN SYNDROME, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE IV, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE III, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, BANNAYAN-RILEY-RUVALCABA SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, 46,XX SEX REVERSAL, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, BRACHYDACTYLY, TYPE A1, C, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ESTROGEN RESISTANCE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CARASIL SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, MYHRE SYNDROME, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, JACKSON-WEISS SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, CHONDRODYSPLASIA, GREBE TYPE, RUBINSTEIN-TAYBI SYNDROME 2, TARSAL-CARPAL COALITION SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 1, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, RUBINSTEIN-TAYBI SYNDROME, BRACHYDACTYLY, TYPE A1, D, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, BRACHYDACTYLY, TYPE C, SYMPHALANGISM, PROXIMAL, 1A, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

FSHB, TGFBR1, TGFB2, HTRA1, PRKCD, SOX9, COL1A1, SMAD4, PTEN, ALB, GDF6, TGFB1, TGFB3, DVL1, FGFR1, ESR1, CDK5, BMP2, EDN1, CCND2, TP53, FRZB, DDX58, NOG, IFNG, BMP4, PCNA, GDF5, EP300, AKT1, HLA-C, BMPER, TGFBR2, SMAD3, CREBBP, BMPR1B, ACVR1, RUNX2, SF3B4, GSC, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, FOCAL DERMAL HYPOPLASIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, VACTERL ASSOCIATION, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PARIETAL FORAMINA 2, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, DEJERINE-SOTTAS DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AURICULOCONDYLAR SYNDROME 3, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, TRIGONOCEPHALY 1, SADDAN, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, BENT BONE DYSPLASIA SYNDROME, HYPOCHONDROPLASIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, SHORT SYNDROME, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ?TETRA-AMELIA SYNDROME, WAARDENBURG SYNDROME, TYPE 3, JACKSON-WEISS SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, IVIC SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OCULOECTODERMAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?MULTIPLE SYNOSTOSES SYNDROME 3, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, MUENKE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, HEMOCHROMATOSIS TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, EXUDATIVE VITREORETINOPATHY 1, ACROCAPITOFEMORAL DYSPLASIA, 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, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, BRACHYDACTYLY, TYPE A1, D, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ULNAR-MAMMARY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE XV, LADD SYNDROME, PALLISTER-HALL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

FGFR2, DNMT1, HESX1, IHH, FLNA, WNT5A, FGFR3, SMARCA4, ERBB3, FSHB, CHEK2, TCF4, PAX3, PTEN, NOTCH1, DVL3, PIK3R2, AKT1, PIK3CA, PAX2, CREBBP, FGF9, DVL1, TBX3, KAT6A, FGF10, APC, MTOR, FGFR1, STAT3, SOX2, OTX2, EGR2, ROR2, AKT3, WNT7A, EDN1, BMP2, NGF, SMAD4, VDR, ESR1, KMT2A, BRCA1, DLX5, IGF1R, RB1, LIFR, SALL4, WNT1, NRAS, ZIC3, WNT3, MAP2K2, TGFBR1, T, TWIST1, TP53, GLI3, THRB, HRAS, COL1A2, BMP4, FRZB, GSC, KRAS, FZD4, EFNB1, PORCN, MUSK, SMAD3, IGF1, BMPR1B, ACVR1, PIK3R1, ALX4, LRP6, RUNX2, EZH2, SF3B4, PDGFRB, WNT10B

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, CULLER-JONES SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, [BONE MINERAL DENSITY VARIABILITY 1], OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, MICROPHTHALMIA, SYNDROMIC 6, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, ?TETRA-AMELIA SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, BRACHYDACTYLY, TYPE A2, OSTEOGENESIS IMPERFECTA, TYPE XV, LADD SYNDROME, BRACHYDACTYLY, TYPE B1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, EXUDATIVE VITREORETINOPATHY 4, POLYCYSTIC LIVER DISEASE, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, PALLISTER-HALL SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CARPENTER SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BRACHYDACTYLY, TYPE A1, ACROCAPITOFEMORAL DYSPLASIA, VAN BUCHEM DISEASE, TYPE 2, ROBINOW SYNDROME, PROTEUS SYNDROME, SOMATIC

PTCH1, WNT7A, LRP5, WNT5A, RAB23, SUFU, WNT3, FGF10, BMP2, PRKACA, OTX2, BMP4, AKT1, PTCH2, RUNX2, WNT1, IHH, GLI3, PTEN, ROR2, LRP2, GSC, LAMA3, LRP6, PORCN, GLI2, WNT10B

BARAITSER-WINTER SYNDROME 1, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OTOPALATODIGITAL SYNDROME, TYPE II, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, STICKLER SYNDROME, TYPE I, MYOPATHY, TUBULAR AGGREGATE, 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, ?STEEL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IA, RENAL TUBULAR DYSGENESIS, PCWH SYNDROME, CZECH DYSPLASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, 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, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?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, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EHLERS-DANLOS SYNDROME, TYPE IV, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, MYOPATHY, TUBULAR AGGREGATE, 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4C, OSTEOGENESIS IMPERFECTA, TYPE I, COLE-CARPENTER SYNDROME 1, CAFFEY DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, GHOSAL HEMATODIAPHYSEAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, HYPERPARATHYROIDISM, NEONATAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AURICULOCONDYLAR SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, FIBROCHONDROGENESIS 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, VON WILLIBRAND DISEASE, TYPE 3, 46,XX SEX REVERSAL, TYPE 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, STICKLER SYNDROME, TYPE III, LEGG-CALVE-PERTHES DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MARSHALL SYNDROME, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SOX9, STIM1, COL18A1, F2, EDNRA, DDR2, ERBB3, COL1A1, VWF, IGF1, ACTG1, CAPN3, COL5A2, PLCG2, PIK3R2, TGFB1, IGBP1, COL3A1, COL17A1, RPL5, FLNA, CASR, COL11A1, COL11A2, GNAI3, P4HB, PRKACA, BMP2, TBXAS1, AKT3, AKT1, BTK, MMP2, SOX10, SOS1, ORAI1, COL2A1, TP53, GNAS, COL27A1, PIK3CA, COL5A1, EDN1, HRAS, COL1A2, FERMT3, ACTB, ADCY6, SLC9A3R1, AGT, FCGR2A, PLCB4, GNAI2, MTOR, PIK3R1

ADAMS-OLIVER SYNDROME 5, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, RETT SYNDROME, CONGENITAL VARIANT, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OSTEOGLOPHONIC DYSPLASIA, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, WIEDEMANN-STEINER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, OCULOECTODERMAL SYNDROME, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, SHORT SYNDROME, TUBEROUS SCLEROSIS-1, METACHONDROMATOSIS, GLYCOGEN STORAGE DISEASE IA, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ENDOCRINE-CEREBROOSTEODYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PHELAN-MCDERMID SYNDROME, HARTSFIELD SYNDROME, MYHRE SYNDROME, HYPERPARATHYROIDISM, NEONATAL, LOEYS-DIETZ SYNDROME 3, COFFIN-SIRIS SYNDROME 3, CLOVE SYNDROME, SOMATIC, NOONAN SYNDROME 7, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, PEUTZ-JEGHERS SYNDROME, SMITH-KINGSMORE SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, LEOPARD SYNDROME 3, JACKSON-WEISS SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, AU-KLINE SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME 2, WAARDENBURG SYNDROME, TYPE 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, WAARDENBURG SYNDROME, TYPE 3, LEOPARD SYNDROME 1, CORNELIA DE LANGE SYNDROME 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MEIER-GORLIN SYNDROME 5, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, TRIGONOCEPHALY 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

GRM1, NRAS, TGFB2, SMARCA4, CDK5, IL10, HNRNPK, MMP2, MAP2K2, SMAD4, PTEN, ALB, RAG1, FOXG1, TGFB1, PIK3R2, PTPN11, CREBBP, TGFB3, F2, CASR, AGT, MTOR, FGFR1, STAT3, PRKACA, INSR, PIK3CA, HRAS, AKT3, CDC6, CCND2, KRAS, G6PC3, SHANK3, DNMT1, ESR1, KMT2A, BRCA1, STK11, BRAF, IGF1R, TP53, ICK, PCNA, CRYAB, TGFBR1, EP300, G6PC, AKT1, SMARCB1, ITCH, RB1, SMAD3, PAX3, NGF, TSC1, RAG2, GNAI2, NOTCH1, INS, IGF1, TGFBR2, PIK3R1, SOS1

LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CAMURATI-ENGELMANN DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOGENESIS IMPERFECTA, TYPE III, CZECH DYSPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, INCONTINENTIA PIGMENTI, PERIODIC FEVER, FAMILIAL, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SHORT SYNDROME, FEINGOLD SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 4, OSTEOGENESIS IMPERFECTA, TYPE II, AVASCULAR NECROSIS OF THE FEMORAL HEAD, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, KNOBLOCH SYNDROME 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, OSTEOLYSIS, FAMILIAL EXPANSILE, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OSTEOGENESIS IMPERFECTA, TYPE IV, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, LEGG-CALVE-PERTHES DISEASE, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, KABUKI SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SMITH-KINGSMORE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

DNMT1, SMAD4, LAMC2, PIK3R2, IKBKG, LAMA2, COL1A2, COL17A1, MYCN, KMT2D, DAG1, LAMA3, TGFB1, LAMB3, PLOD3, TNFRSF1A, AKT3, AKT1, PRKDC, COL2A1, TP53, ITGA3, PCNA, COL18A1, PIK3CA, HSPD1, PTEN, HRAS, RB1, TNFRSF11A, CREBBP, ESR1, COL7A1, ITGA6, MTOR, PIK3R1

METACHONDROMATOSIS, TUBEROUS SCLEROSIS 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, IMMUNODEFICIENCY 43, COFFIN-SIRIS SYNDROME 3, NASU-HAKOLA DISEASE, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HYPERTHYROIDISM, NONAUTOIMMUNE, RHEUMATOID ARTHRITIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, LEOPARD SYNDROME 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {PSORIASIS SUSCEPTIBILITY 1}

HLA-DQB1, IL10, B2M, TSHR, TYROBP, HNRNPA1, CIITA, TP53, HLA-DRB1, STAT1, HLA-C, IFNG, HLA-B, SMARCA4, HLA-DQA1, HSPD1, SMARCB1, PTPN11

LOEYS-DIETZ SYNDROME 1, {PSORIASIS SUSCEPTIBILITY 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PSEUDOPSEUDOHYPOPARATHYROIDISM, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CAMURATI-ENGELMANN DISEASE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, INCONTINENTIA PIGMENTI, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PERIODIC FEVER, FAMILIAL, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, METACHONDROMATOSIS, OTOPALATODIGITAL SYNDROME, TYPE I, SMITH-KINGSMORE SYNDROME, RUBINSTEIN-TAYBI SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, PSEUDOHYPOPARATHYROIDISM IC, MELNICK-NEEDLES SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, PAGET DISEASE OF BONE 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, PYCNODYSOSTOSIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CLOVE SYNDROME, SOMATIC, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, FACTOR XIIIA DEFICIENCY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, OSTEOLYSIS, FAMILIAL EXPANSILE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, RUBINSTEIN-TAYBI SYNDROME 2, FRONTOMETAPHYSEAL DYSPLASIA, TUBEROUS SCLEROSIS 2, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PSEUDOHYPOPARATHYROIDISM IA, NASU-HAKOLA DISEASE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, IMMUNODEFICIENCY 43, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

NCF1, TGFBR1, TGFB2, TNFRSF11A, NGF, PRKCD, FCGR2B, CYBB, TREM2, CALCR, CTSK, PIK3R2, AKT1, IKBKG, SQSTM1, PTPN11, FLNA, STAT1, MMP2, TNFSF11, AGT, TGFB1, MTOR, FCGR2A, CDK5, BMP4, AKT3, TNFRSF11B, CYBA, IFNG, BTK, B2M, PLCG2, IGF1R, IL10, WAS, KARS, HLA-DRB1, CRYAB, GNAS, F2, NCF2, EP300, PIK3CA, TP53, SOS1, TNFRSF1A, HLA-C, TYROBP, TSHR, RB1, F13A1, CREBBP, STAT3, ACP5, INS, TGFBR2, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CULLER-JONES SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HOLOPROSENCEPHALY-9, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, WAARDENBURG SYNDROME, TYPE 3, MICROPHTHALMIA, SYNDROMIC 6, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, FOCAL DERMAL HYPOPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BANNAYAN-RILEY-RUVALCABA SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, BRACHYDACTYLY, TYPE A2, CRANIOSYNOSTOSIS 6, OSTEOGENESIS IMPERFECTA, TYPE XV, LADD SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, BRACHYDACTYLY, TYPE B1, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?TETRA-AMELIA SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PALLISTER-HALL SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BRACHYDACTYLY, TYPE A1, EXUDATIVE VITREORETINOPATHY 1, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME

PTCH1, WNT7A, WNT5A, SUFU, SMAD4, PTEN, PRKACA, DVL3, WNT3, GLI3, FGF10, BMP2, ZIC1, OTX2, MUSK, FZD4, DVL1, PTCH2, TP53, WNT1, IHH, TBX6, APC, RUNX2, ROR2, BMP4, T, GLI2, PAX3, LRP6, PORCN, GSC, WNT10B

BASAL CELL NEVUS SYNDROME, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ATELOSTEOGENESIS, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, PITUITARY ADENOMA, ACTH-SECRETING, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ANGELMAN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, OSSEOUS HETEROPLASIA, PROGRESSIVE, MYOPATHY, TUBULAR AGGREGATE, 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYOPATHY, DISTAL, TATEYAMA TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TIMOTHY SYNDROME, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ALAGILLE SYNDROME, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AURICULOCONDYLAR SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, METACHONDROMATOSIS, 46,XX SEX REVERSAL, TYPE 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, NOONAN SYNDROME 7, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, ATELOSTEOGENESIS, TYPE III, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

GRM1, PTCH1, CAV3, GHSR, NCF2, TNFSF11, EDNRA, NGF, CDK5, ERBB3, FSHB, HNF1B, PEX5, IHH, SLC9A3R1, NME1, MAP2K2, FSHR, PIK3R2, TGFB1, GLI3, MECP2, FLNA, MC2R, F2, CASR, AGT, RYR1, SOX9, GNAI3, STAT3, PRKACA, CACNA1C, INSR, PTHLH, PTPN11, AKT3, PRKAR1A, AKT1, BMP2, TUBB3, GJA1, SOS1, ESR1, MYH7, CREBBP, ORAI1, BRAF, PRKCD, TP53, PDE3A, GNAS, PCNA, RAB7A, DNM2, FLNB, EP300, PIK3CA, EDN1, HRAS, PDE4D, GRIP1, ATP1A3, JAG1, TSHR, EFNB1, RB1, SMAD3, ADCY6, HAMP, ADA, ACVR1, CALCR, GNAI2, INS, IGF1, MTOR, PIK3R1

SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, METACHONDROMATOSIS, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY 43, RHEUMATOID ARTHRITIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, TUBEROUS SCLEROSIS 2

HLA-DQB1, IL10, B2M, IFNG, HLA-DRB1, HLA-C, HLA-B, PIK3R1, HLA-DQA1, PIK3CA, PTPN11

SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, BARTTER SYNDROME, TYPE 2, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, CULLER-JONES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ZIMMERMANN-LABAND SYNDROME 2, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, DENT DISEASE, DEJERINE-SOTTAS DISEASE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, LEPRECHAUNISM, RENAL TUBULAR ACIDOSIS, DISTAL, AD, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CAPOS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, WRINKLY SKIN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, OSSEOUS HETEROPLASIA, PROGRESSIVE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, JACKSON-WEISS SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, OCULOECTODERMAL SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, AURICULOCONDYLAR SYNDROME 1, CLOVE SYNDROME, SOMATIC, EIKEN SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, RENAL TUBULAR ACIDOSIS, DISTAL, AR, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, NEUROFIBROMATOSIS-NOONAN SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, PSEUDOHYPOPARATHYROIDISM IA, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, PREMATURE AGING SYNDROME, PENTTINEN TYPE, NEUROFIBROMATOSIS, TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, HYPOPHOSPHATEMIC RICKETS, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CA2, TCIRG1, ADCY6, FGFR1, NGF, TP53, HNF1B, HSD17B10, AGTR1, CLCN5, PIK3R2, KLC2, TGFB1, GNAS, PTH1R, KCNJ1, ATP6V1B2, AGT, MTOR, EDNRA, KL, PRKACA, INSR, PIK3CA, WNK1, AKT1, KRAS, SOS1, VDR, ESR1, CBL, CREBBP, F2, SEC23B, DDX58, RB1, EGR2, ATP6V0A2, REN, NF1, RAB7A, INS, PCNA, ATP1A3, DNM2, SLC4A1, EDN1, HRAS, AP2S1, WAS, GLI2, IGF1, SLC9A3R1, RPS6KA3, STAT3, PLCB4, GNAI2, DYNC1H1, DYNC2H1, SCYL1, PDGFRB, PIK3R1

LOEYS-DIETZ SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, ASPARTYLGLUCOSAMINURIA, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, MANNOSIDOSIS, ALPHA-, TYPES I AND II, GM1-GANGLIOSIDOSIS, TYPE I, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SIALIC ACID STORAGE DISORDER, INFANTILE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MICROPHTHALMIA, SYNDROMIC 6, FEINGOLD SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, MUCOLIPIDOSIS III ALPHA/BETA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, GALACTOSIALIDOSIS, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CORNELIA DE LANGE SYNDROME 4, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, CEROID LIPOFUSCINOSIS, NEURONAL, 1, MULTIPLE SULFATASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, MUCOLIPIDOSIS III GAMMA, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, BRUCK SYNDROME 2, GM1-GANGLIOSIDOSIS, TYPE III, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, WRINKLY SKIN SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IS, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, BRACHYDACTYLY, TYPE A2, CEROID LIPOFUSCINOSIS, NEURONAL, 10, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, MUCOPOLYSACCHARIDOSIS TYPE IIID, RHEUMATOID ARTHRITIS, NIEMANN-PICK DISEASE, TYPE A, MUCOPOLYSACCHARIDOSIS IH/S, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FARBER LIPOGRANULOMATOSIS, MUCOLIPIDOSIS II ALPHA/BETA, PYCNODYSOSTOSIS, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MUCOPOLYSACCHARIDOSIS IH, SALLA DISEASE, TUBEROUS SCLEROSIS 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, HERMANSKY-PUDLAK SYNDROME 2, FUCOSIDOSIS, GAUCHER DISEASE, PERINATAL LETHAL, DANON DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, GAUCHER DISEASE, TYPE IIIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HAIM-MUNK SYNDROME, MUCOPOLYSACCHARIDOSIS IVA, GAUCHER DISEASE, TYPE I, GLYCOGEN STORAGE DISEASE VII, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, PROTEUS SYNDROME, SOMATIC

TCIRG1, FUCA1, PFKM, GLB1, GNPTG, SMPD1, MMP1, HYAL1, IGF1, RAD21, AP4S1, HEXB, SLC17A5, IGF2, GNS, CTNS, CTSA, AP4E1, ACP5, DVL1, AP3B1, AP4B1, CIITA, CTSD, ASAH1, BMP2, PPT1, VMA21, AP4M1, AKT1, NGF, IDUA, PACS1, CTSC, MAN2B1, GBA, IFNG, GLA, MYCN, NAGA, TGFBR1, AP1S2, NAGLU, GNPTAB, AGA, MMP2, GALNS, BMP4, SGSH, CTSK, GUSB, UCHL1, SUMF1, NTRK1, IDS, LAMP2, PLOD2, NME1, NEU1, ACVR1, ARSB, HGSNAT, INS, ATP6V0A2, SCYL1, TAF1

LOEYS-DIETZ SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, CZECH DYSPLASIA, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, CAFFEY DISEASE, CAMURATI-ENGELMANN DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, PSEUDOACHONDROPLASIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, FIBROCHONDROGENESIS 2, VON WILLIBRAND DISEASE, TYPE 3, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, 46,XX SEX REVERSAL, TYPE 2, STICKLER SYNDROME, TYPE II, WAARDENBURG SYNDROME, TYPE 4C, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, EHLERS-DANLOS SYNDROME, TYPE 3, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE IV, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, MELNICK-NEEDLES SYNDROME, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ?OSTEOGENESIS IMPERFECTA, TYPE X, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, SED CONGENITA, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, KNIEST DYSPLASIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPONDYLOPERIPHERAL DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, ?MYOSCLEROSIS, CONGENITAL, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, PROTEUS SYNDROME, SOMATIC, STICKLER SYNDROME, TYPE I, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, VESICOURETERAL REFLUX 8, STICKLER SYNDROME, TYPE III, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OSTEOGENESIS IMPERFECTA, TYPE IV, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEGG-CALVE-PERTHES DISEASE, BETHLEM MYOPATHY 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, OTOPALATODIGITAL SYNDROME, TYPE I, PCWH SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, ?STEEL SYNDROME, KNOBLOCH SYNDROME 1, FIBROCHONDROGENESIS 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MARSHALL SYNDROME

SOX9, TGFBR1, ACAN, ITGA8, COL1A1, VWF, LAMC2, LAMA2, TGFB1, FLNA, COL3A1, COL17A1, MMP2, F2, DAG1, COL6A1, COL11A1, ITGB4, LAMB3, COL5A1, BMP2, COL5A2, COL6A3, AKT1, DDR2, SOX10, ITGA6, COL18A1, COMP, ITGA3, RUNX2, COL27A1, COL1A2, SERPINH1, COL6A2, ITGA7, TNXB, HSPG2, LAMA3, COL7A1, COL2A1, SNAP25, COL11A2, PIK3R1

EXOSTOSES, MULTIPLE, TYPE 1, CAMURATI-ENGELMANN DISEASE, MANNOSIDOSIS, ALPHA-, TYPES I AND II, GAUCHER DISEASE, PERINATAL LETHAL, CHIME SYNDROME, DESBUQUOIS DYSPLASIA 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, BARAITSER-WINTER SYNDROME 2, MUCOPOLYSACCHARIDOSIS IS, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, PETERS-PLUS SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, GAUCHER DISEASE, TYPE IIIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, ADAMS-OLIVER SYNDROME 5, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, HARTSFIELD SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, HAJDU-CHENEY SYNDROME, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, EHLERS-DANLOS SYNDROME, TYPE 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, FUCOSIDOSIS, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, SPONDYLOOCULAR SYNDROME, ?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, MUCOPOLYSACCHARIDOSIS II, JACKSON-WEISS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, WAARDENBURG SYNDROME, TYPE 4C, GAUCHER DISEASE, TYPE I, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COLE-CARPENTER SYNDROME 1, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, KLEEFSTRA SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, OCULOECTODERMAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, CHONDROSARCOMA, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS IH/S, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, PCWH SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ASPARTYLGLUCOSAMINURIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MUCOPOLYSACCHARIDOSIS, MPS-III-A, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, ADAMS-OLIVER SYNDROME 4, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, LOEYS-DIETZ SYNDROME 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MUCOPOLYSACCHARIDOSIS IVA, EXOSTOSES, MULTIPLE, TYPE 2, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, PROTEUS SYNDROME, SOMATIC

EXT1, RPL5, FUCA1, B4GALT7, TGFB2, PIGV, FGFR1, KRAS, CHST3, COL1A1, POMGNT1, XYLT2, ACTG1, NOTCH1, DPM1, HEXB, GALNT3, BANF1, PIGL, IDS, B3GAT3, HYAL1, ARSB, HSPG2, GBA2, XYLT1, ACAN, GUSB, MGAT2, GNS, TGFB1, PLOD3, MOGS, POMT1, HS6ST1, MET, ALG3, GALNS, NR1I3, AKT1, SOX10, SDHD, SLC33A1, PIGT, MAN2B1, GLB1, GBA, P4HB, ALG1, B3GLCT, GLA, DPM2, NAGLU, PIGO, DPAGT1, DSE, GPC3, ALG2, CHSY1, HRAS, SGSH, EOGT, POMT2, NAGA, PIGA, B3GALT6, FGF23, PIGY, NOTCH2, AGA, NEU1, EXT2, VCP, IDUA, HGSNAT, CHST14, INS, B4GALNT1, ALG13, PIGN

BARAITSER-WINTER SYNDROME 1, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, ATELOSTEOGENESIS, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, CAFFEY DISEASE, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, VESICOURETERAL REFLUX 8, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PSEUDOACHONDROPLASIA, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?STEEL SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OSTEOGENESIS IMPERFECTA, TYPE XVII, RENAL TUBULAR DYSGENESIS, CLEFT PALATE, ISOLATED, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ADAMS-OLIVER SYNDROME 5, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, 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, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, BETHLEM MYOPATHY 1, STICKLER SYNDROME, TYPE I, MYOPATHY, DISTAL, TATEYAMA TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4C, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PELGER-HUET ANOMALY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?BARDET-BIEDL SYNDROME 11, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEMOCHROMATOSIS TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, GLYCOGEN STORAGE DISEASE VII, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, 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, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, KOSAKI OVERGROWTH SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, 46,XX SEX REVERSAL, TYPE 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, RENAL ADYSPLASIA, BRACHYDACTYLY, TYPE A2, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, STICKLER SYNDROME, TYPE III, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, LEGG-CALVE-PERTHES DISEASE, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, PROTEUS SYNDROME, SOMATIC, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME, MARSHALL SYNDROME

COL10A1, F2, COL1A1, ACTB, LBR, IGBP1, COL3A1, AGT, COL11A2, CDK5, EDN1, GJA1, SOX10, COL6A1, ITGA3, TRIM32, PIK3CA, SOS1, TNXB, COL2A1, TGFBR2, ACE, ACAN, MMP2, COL6A2, IGF2, NOTCH1, DAG1, MTOR, COL1A2, CBL, MET, COMP, SPARC, PFKM, TAF1, TNNT2, STAT3, DDR2, BRAF, INS, LAMB3, COL7A1, CAV3, TGFBR1, ITGA8, SOX9, IGF1, COL5A1, VWF, COL17A1, PDGFRB, LAMA3, DMD, BMP2, AKT1, CCND2, PRKDC, IGF1R, TP53, COL27A1, HTRA1, EFNB1, PTEN, MUSK, ITGA6, COL6A3, FLNA, MYH11, BIN1, PRKCD, ACTG1, LAMC2, PIK3R2, TGFB1, LAMA2, COL5A2, PIP5K1C, COL11A1, ITGB4, ESR1, INSR, AKT3, SERPINH1, PDGFRA, COL18A1, FLNB, HRAS, LRP2, ITGA7, SMAD3, ALB, HSPG2, NEB, MTRR, PIK3R1

METACHONDROMATOSIS, TUBEROUS SCLEROSIS 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, RHEUMATOID ARTHRITIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}

IL10, IGF1R, IFNG, HLA-DRB1, HLA-DQB1, HLA-DQA1, PTPN11

?DYSTONIA 23, BARAITSER-WINTER SYNDROME 1, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, CZECH DYSPLASIA, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, CAMURATI-ENGELMANN DISEASE, LOEYS-DIETZ SYNDROME 5, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, LOEYS-DIETZ SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, OTOPALATODIGITAL SYNDROME, TYPE I, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?DYSTONIA, JUVENILE-ONSET, OSTEOGENESIS IMPERFECTA, TYPE II, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, DUCHENNE MUSCULAR DYSTROPHY, SMED STRUDWICK TYPE, PEUTZ-JEGHERS SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, MELNICK-NEEDLES SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, SED CONGENITA, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, KNIEST DYSPLASIA, BARAITSER-WINTER SYNDROME 2, SPONDYLOPERIPHERAL DYSPLASIA, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, RESTRICTIVE DERMOPATHY, LETHAL, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, AVASCULAR NECROSIS OF THE FEMORAL HEAD, OSTEOGENESIS IMPERFECTA, TYPE I, DEJERINE-SOTTAS DISEASE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OSTEOGENESIS IMPERFECTA, TYPE IV, HEART-HAND SYNDROME, SLOVENIAN TYPE, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, RUBINSTEIN-TAYBI SYNDROME 2, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, TIMOTHY SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MALOUF SYNDROME, LIANG DISTAL MYOPATHY, MANDIBULOACRAL DYSPLASIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MYOPATHY, DISTAL, TATEYAMA TYPE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, PROTEUS SYNDROME, SOMATIC

ACE, TGFB2, MYH11, ITGA8, TP53, CAV3, EP300, IGF1, ACTG1, ACTB, IGBP1, TGFB1, SGCA, LAMA2, TPM2, TGFB3, FLNA, DAG1, ITGB4, DMD, CACNA1C, EGR2, COL1A2, IGF2, AKT1, BIN1, MYH7, STK11, ITGA6, LMNA, SGCG, ITGA3, CRYAB, TGFBR1, DES, TTN, CACNA1B, ITGA7, EMD, F13A1, CAPN3, TNNT2, DST, COL2A1, TPM3

?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, CLOVE SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, {PSORIASIS SUSCEPTIBILITY 1}, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, RHEUMATOID ARTHRITIS, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 43, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PERIODIC FEVER, FAMILIAL, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, TUBEROUS SCLEROSIS 2

HLA-DRB1, RPL5, B2M, GAD1, IFNG, HSPD1, NGF, HSPB1, HLA-C, HLA-DQB1, HLA-B, IL10, HLA-DQA1, INS, PIK3CA, CTLA4, PTEN, TNFRSF1A

?DYSTONIA 23, BARAITSER-WINTER SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, TIMOTHY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, OCULODENTODIGITAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, 46,XX SEX REVERSAL, TYPE 2, RESTRICTIVE DERMOPATHY, LETHAL, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, LOEYS-DIETZ SYNDROME 3, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, BARAITSER-WINTER SYNDROME 2, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, HUTCHINSON-GILFORD PROGERIA, ESTROGEN RESISTANCE, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, HEART-HAND SYNDROME, SLOVENIAN TYPE, OTOPALATODIGITAL SYNDROME, TYPE I, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, RUBINSTEIN-TAYBI SYNDROME 2, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, RENAL ADYSPLASIA, MALOUF SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MANDIBULOACRAL DYSPLASIA, MYOPATHY, DISTAL, TATEYAMA TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PROTEUS SYNDROME, SOMATIC

SOX9, FLNA, ITGA8, CAV3, EP300, ACTG1, ACTB, IGF2, ITGB4, IGBP1, LAMA2, LMNA, SGCA, DMD, CACNA1C, AKT1, BIN1, DSP, SGCG, ITGA3, DES, CACNA1B, GJA1, ITGA7, DAG1, EMD, SMAD3, ESR1, ITGA6

BARAITSER-WINTER SYNDROME 1, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OTOPALATODIGITAL SYNDROME, TYPE II, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BARAITSER-WINTER SYNDROME 2, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, DEJERINE-SOTTAS DISEASE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, PSEUDOHYPOPARATHYROIDISM IA, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CZECH DYSPLASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOGENESIS IMPERFECTA, TYPE IV, PITUITARY ADENOMA, ACTH-SECRETING, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MALOUF SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, NOONAN SYNDROME 4, MUSCULAR DYSTROPHY, CONGENITAL, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, AVASCULAR NECROSIS OF THE FEMORAL HEAD, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, LIANG DISTAL MYOPATHY, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?DYSTONIA 23, LOEYS-DIETZ SYNDROME 5, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, METACHONDROMATOSIS, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, HEART-HAND SYNDROME, SLOVENIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

ACE, TGFB2, MYH11, ITGA8, CAV3, EP300, IGF1, ACTG1, ADCY6, ACTB, IGBP1, TGFB1, SGCA, LAMA2, TPM2, TGFB3, FLNA, DAG1, ITGB4, DMD, PRKACA, CACNA1C, PTHLH, PTPN11, IGF2, AKT1, BIN1, MYH7, ITGA6, LMNA, SGCG, ITGA3, GNAS, EGR2, TGFBR1, DES, TTN, CACNA1B, SOS1, COL1A2, PDE4D, ITGA7, EMD, F13A1, GNAI2, CAPN3, TNNT2, NEB, COL2A1, TPM3

BARAITSER-WINTER SYNDROME 1, {PSORIASIS SUSCEPTIBILITY 1}, LEUKODYSTROPHY, HYPOMYELINATING, 4, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SHORT SYNDROME, 46,XX SEX REVERSAL, TYPE 2, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, DIAMOND-BLACKFAN ANEMIA 6, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, TUBEROUS SCLEROSIS 2, BARAITSER-WINTER SYNDROME 2, IMMUNODEFICIENCY 43, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, {CELIAC DISEASE, SUSCEPTIBILITY TO}

SOX9, B2M, MYH7, ACTB, SGCA, LAMA2, RPL5, DAG1, DMD, HLA-DRB1, HLA-B, SGCG, IL10, IFNG, HLA-DQB1, EP300, PIK3CA, HSPD1, HLA-C, PTEN, HLA-DQA1, ACTG1, PIK3R1

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, THANATOPHORIC DYSPLASIA, TYPE I, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BRACHYDACTYLY, TYPE A1, D, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, PYCNODYSOSTOSIS, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, SADDAN, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADAMS-OLIVER SYNDROME 5, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, OSTEOGENESIS IMPERFECTA, TYPE IV, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, BENT BONE DYSPLASIA SYNDROME, INCONTINENTIA PIGMENTI, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, CATSHL SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 3, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JACKSON-WEISS SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, CORNELIA DE LANGE SYNDROME 3, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, NOONAN SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, ?JOUBERT SYNDROME 22, OCULOECTODERMAL SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, OTOPALATODIGITAL SYNDROME, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, AURICULOCONDYLAR SYNDROME 1, BOHRING-OPITZ SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, MUENKE SYNDROME, GENITOPATELLAR SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ?CHARGE SYNDROME, CHARGE SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, TUBEROUS SCLEROSIS 2, HEMOCHROMATOSIS TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NASU-HAKOLA DISEASE, HYPERTHYROIDISM, NONAUTOIMMUNE, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, FRAGILE X SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, HAJDU-CHENEY SYNDROME, 46,XX SEX REVERSAL, TYPE 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LATERAL MENINGOCELE SYNDROME, METACHONDROMATOSIS, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, CROUZON SYNDROME, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, OSTEOLYSIS, FAMILIAL EXPANSILE, LADD SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, APERT SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MASA SYNDROME, CRASH SYNDROME, LEOPARD SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SECKEL SYNDROME 1, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

F2, COL1A1, ACTB, GNAS, IKBKG, PIK3CA, ACP5, CYBA, AGT, GNAI3, CDK5, ASCC1, UBA1, EDN1, BTK, B2M, FMR1, NF1, PDE6D, ROBO3, BMP4, BMPER, TYROBP, HNRNPA1, PDGFRB, CREBBP, GNAI2, RBPJ, TGFBR2, ACTA1, SOX9, GRIP1, F13A1, KRAS, IL10, CAPN3, IRF5, SEMA3E, NOTCH1, CIITA, MTOR, FGFR1, SQSTM1, CFL2, CBL, CNTNAP1, MET, IFNG, STAT1, KAT6B, NCF2, EP300, TNFRSF1A, FCGR2B, TSHR, GSC, TNFRSF11A, STAT3, INS, SMC3, GATA1, FCGR2A, NCF1, TGFBR1, TGFB2, IGF1, TREM2, CTSK, PAX2, HLA-DRB1, TNFSF11, CNTN1, BMP2, AKT1, CYBB, IGF1R, TP53, TNFRSF11B, CDKN1C, NOTCH3, EFNB1, PTEN, FGFR3, CALCR, EIF4A3, RB1, NRAS, FLNA, NGF, PRKCD, ACTG1, BMPR1B, ASXL1, PIK3R2, TGFB1, MMP2, PTPN11, WAS, NOTCH2, AKT3, SOS1, KARS, FGFR2, PLCG2, CRYAB, L1CAM, HRAS, HLA-C, ATR, ESR1, PIK3R1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, HYPER-IGE RECURRENT INFECTION SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, CLEFT PALATE, ISOLATED, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, CARASIL SYNDROME, DYSAUTONOMIA, FAMILIAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, ?STEEL SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, PSEUDOHYPOPARATHYROIDISM IC, BOHRING-OPITZ SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPLIT-HAND/FOOT MALFORMATION 6, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HOLT-ORAM SYNDROME, BRACHYDACTYLY, TYPE A1, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, WAARDENBURG SYNDROME, TYPE 4C, LYSYL HYDROXYLASE 3 DEFICIENCY, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, CULLER-JONES SYNDROME, PELGER-HUET ANOMALY, TIMOTHY SYNDROME, NOONAN SYNDROME 4, BRACHYDACTYLY, TYPE E2, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, MUENKE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, HEMOCHROMATOSIS TYPE 1, OGDEN SYNDROME, FRONTONASAL DYSPLASIA 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, EXUDATIVE VITREORETINOPATHY 1, ?DYSTONIA 23, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, CRANIOSYNOSTOSIS, TYPE 2, METACHONDROMATOSIS, SED, MAROTEAUX TYPE, LATERAL MENINGOCELE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE XVII, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, STICKLER SYNDROME, TYPE III, OSTEOGENESIS IMPERFECTA, TYPE XV, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MARFAN LIPODYSTROPHY SYNDROME, BRACHYOLMIA TYPE 3, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ATELOSTEOGENESIS, TYPE I, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MELNICK-NEEDLES SYNDROME, VACTERL ASSOCIATION, X-LINKED, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, BRACHYDACTYLY, TYPE C, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ARTHROGRYPOSIS, DISTAL, TYPE 8, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, BRACHYDACTYLY, TYPE A1, C, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, MULTIPLE SYNOSTOSES SYNDROME 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, TARSAL-CARPAL COALITION SYNDROME, OPSISMODYSPLASIA, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SYMPHALANGISM, PROXIMAL, 1A, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, KNOBLOCH SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DUCHENNE MUSCULAR DYSTROPHY, ALAGILLE SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SED CONGENITA, GLYCOGEN STORAGE DISEASE VII, FIBROCHONDROGENESIS 1, HYPOCHONDROPLASIA, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, GELEOPHYSIC DYSPLASIA 2, CAFFEY DISEASE, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ULNAR-MAMMARY SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, BRACHYDACTYLY, TYPE B1, CHONDRODYSPLASIA, GREBE TYPE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, ?MICROPHTHALMIA, SYNDROMIC 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PARIETAL FORAMINA 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 4, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, METATROPIC DYSPLASIA, PARIETAL FORAMINA 2, DEJERINE-SOTTAS DISEASE, PARASTREMMATIC DWARFISM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, MECKEL SYNDROME 10, GREENBERG SKELETAL DYSPLASIA, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, DUANE-RADIAL RAY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, ROBINOW SYNDROME, BRACHYDACTYLY, TYPE A1, D, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COLE-CARPENTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, CORNELIA DE LANGE SYNDROME 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, KOSAKI OVERGROWTH SYNDROME, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, [BONE MINERAL DENSITY VARIABILITY 1], COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46,XX SEX REVERSAL, TYPE 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, LADD SYNDROME, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, PALLISTER-HALL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MASA SYNDROME, CRASH SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MARSHALL SYNDROME, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, BARAITSER-WINTER SYNDROME 2, TRANSALDOLASE DEFICIENCY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, VESICOURETERAL REFLUX 8, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, TRIGONOCEPHALY 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PITUITARY DEPENDENT HYPERCORTISOLISM, CATSHL SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, FUHRMANN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JACKSON-WEISS SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, WAARDENBURG SYNDROME, TYPE 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, IVIC SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, ?BARDET-BIEDL SYNDROME 11, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, OTOPALATODIGITAL SYNDROME, TYPE I, STICKLER SYNDROME, TYPE II, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?MYOSCLEROSIS, CONGENITAL, AURICULOCONDYLAR SYNDROME 1, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, EXUDATIVE VITREORETINOPATHY 4, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, PCWH SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOCOSTAL DYSOSTOSIS 5, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, VON WILLIBRAND DISEASE, TYPE 3, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, PAGET DISEASE OF BONE 3, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME

CA2, FSHB, COL27A1, F2, GJB1, EDNRA, WNT5A, NCF1, COL1A1, NAA10, ACTB, ITGB4, LBR, IGBP1, IKBKG, TWIST1, COL3A1, SMARCA4, GJB6, TBX3, AGT, COL11A2, GNAI3, INSR, COL5A1, OTX2, PTHLH, EDN1, KMT2A, SOX10, FRZB, KISS1R, SALL1, COL6A3, ENG, EGR2, ITGA3, RAB7A, IKBKAP, DNM2, CACNA1B, TRIM32, SERPINH1, BMP4, WNT1, JAG1, TGFBR2, EMD, TNXB, SMAD4, ADCY6, GNAI2, LRP6, THRB, COL10A1, MUSK, ACTA1, WNT7A, ACAN, LIMS2, FGFR3, KRAS, ERBB3, CBL, MAP2K2, FGF9, CREBBP, COL6A2, FSHR, WNT10B, IGF2, GNAS, NOTCH1, MYCN, DAG1, GLI2, GATA2, FGFR1, MET, SQSTM1, PIK3CA, COL1A2, WNT3, FZD4, MSX2, B9D2, PLOD3, ITGA6, MMP13, COMP, SPARC, NRAS, ZIC3, MYH8, TGFBR1, EP300, TAF1, NR2F1, ROR2, ALPL, T, NOTCH3, TNNT2, SF3B4, GSC, MYH3, GDF5, TALDO1, BIN1, RPS6KA3, STAT3, DDR2, ALX4, INS, KAT6A, EZH2, LAMB3, COL7A1, CAV3, NCF2, KCNJ11, ITGA8, ACE, TGFB2, RB1, IGF1, CDK5, DVL3, F13A1, VWF, TBX6, PAX2, COL17A1, CALCR, MMP2, PDGFRB, CASR, LAMA3, DMD, SOX9, TUBB, ACVR1, RAPSN, BMP2, COL6A1, BRCA1, KDM1A, AKT1, CCND2, SOX2, INPPL1, PRKDC, FLNB, TBX5, IGF1R, COL18A1, WAS, TP53, MYH2, FBN1, LRP2, HNRNPK, IHH, GLI3, CDC6, EFNB1, TUBB3, PTEN, TRPV4, LZTR1, SLC9A3R1, CRYAB, BRAF, BTK, DLX5, KIT, RUNX2, COL2A1, PFKM, VDR, HESX1, SMAD3, ASXL1, FLNA, HTRA1, NGF, PRKCD, MYH7, CHEK2, PAX3, ACTG1, ALB, LAMC2, PIK3R2, TGFB1, P4HB, PTPN11, PIP5K1C, DVL1, COL11A1, BMPR1B, CASK, NEB, PRKACA, CACNA1C, NOG, TCF4, COL5A2, AKT3, SOS1, DNMT1, FGFR2, TNFRSF11A, LRP5, SALL4, LIFR, PDGFRA, L1CAM, PCNA, RET, GRM1, APC, SNAP25, HRAS, LAMA2, GJA1, ITGA7, MAPT, MYH11, ATR, HSPG2, FGF10, ESR1, PLCB4, MYH14, MTRR, PORCN, MTOR, PIK3R1

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, BARAITSER-WINTER SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SPLIT-HAND/FOOT MALFORMATION 4, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE IV, PSEUDOACHONDROPLASIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, WRINKLY SKIN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, KOSAKI OVERGROWTH SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {PSORIASIS SUSCEPTIBILITY 1}, GALACTOSIALIDOSIS, 3MC SYNDROME 1, METACHONDROMATOSIS, 46,XX SEX REVERSAL, TYPE 2, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, OSTEOGENESIS IMPERFECTA, TYPE II, PREMATURE AGING SYNDROME, PENTTINEN TYPE, CAFFEY DISEASE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, ?DYSTONIA, JUVENILE-ONSET, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ALAGILLE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BARAITSER-WINTER SYNDROME 2, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ADULT SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, C1R/C1S DEFICIENCY, COMBINED, ZIMMERMANN-LABAND SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 6, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE I, RHEUMATOID ARTHRITIS, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ZIMMERMANN-LABAND SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, 3MC SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GLYCOGEN STORAGE DISEASE VII, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 43, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, DANON DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, HAY-WELLS SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

NCF1, PFKM, SFTPA2, CBL, CYBB, MASP1, SOX9, SFTPA1, ACTG1, IL10, ACTB, COL1A1, TGFB1, JAG1, CTSA, C1R, FCGR2B, RPL5, CYBA, SPG7, INS, CBS, CTSD, HLA-DRB1, FCGR2A, TCIRG1, BMP2, HLA-B, PTPN11, AKT1, TUBB3, COMP, BTK, ESR1, B2M, TUBB, UCHL1, IFNG, STAT1, RAB7A, COLEC11, HLA-DQB1, CHEK2, NCF2, HLA-DQA1, TP53, HSPD1, ATP6V0A2, HRAS, TMEM173, HLA-C, ATP6V1B2, TSHR, PDGFRB, LAMP2, ALB, TP63, GNAI2, DYNC1H1, DYNC2H1, PEX5

MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP E, FANCONI ANEMIA, COMPLEMENTATION GROUP O, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, CEREBROOCULOFACIOSKELETAL SYNDROME 4, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, FANCONI ANEMIA, COMPLEMENTATION GROUP L, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP P, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SECKEL SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP T, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C

PRKDC, FANCL, RAD51C, BRCA2, BRCA1, FANCE, ATR, POLD1, ERCC4, UBE2T, FANCD2, CHEK2, FANCA, PCNA, FANCC, SLX4, FANCM, ERCC1, BLM

LOEYS-DIETZ SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, HARTSFIELD SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, LEUKODYSTROPHY, HYPOMYELINATING, 4, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OCULODENTODIGITAL DYSPLASIA, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 5, HYPER-IGE RECURRENT INFECTION SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, INCONTINENTIA PIGMENTI, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, METACHONDROMATOSIS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, IMMUNODEFICIENCY 43, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, AURICULOCONDYLAR SYNDROME 1, CLOVE SYNDROME, SOMATIC, C1R/C1S DEFICIENCY, COMBINED, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, JACKSON-WEISS SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, CAMURATI-ENGELMANN DISEASE, SMITH-KINGSMORE SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, PSEUDOHYPOPARATHYROIDISM IA, LOEYS-DIETZ SYNDROME 3, LEOPARD SYNDROME 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MEIER-GORLIN SYNDROME 5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

ACE, EDN1, TGFB2, FGFR1, NGF, PRKCD, B2M, PIK3R2, AKT1, IKBKG, GNAS, PTPN11, C1R, STAT1, TGFB3, TGFB1, MTOR, GNAI3, ESR1, AGTR1, INSR, AKT3, CDC6, GJA1, BTK, IL10, GNAI2, CBL, IFNG, PROK2, TGFBR1, EP300, PIK3CA, TP53, HSPD1, KISS1R, TNFRSF1A, HLA-C, TGFBR2, SMAD3, STAT3, PLCB4, MAFB, PIK3R1

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, OCULODENTODIGITAL DYSPLASIA, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, INCONTINENTIA PIGMENTI, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, FACTOR XIIIA DEFICIENCY, TUBEROUS SCLEROSIS 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PITUITARY ADENOMA, ACTH-SECRETING, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, LOEYS-DIETZ SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

NCF1, NCF2, TGFB2, NGF, GJA1, IL10, IKBKG, HLA-DRB1, TGFB3, CYBA, CIITA, TGFB1, STAT3, AKT1, CYBB, FCGR2B, HLA-DQA1, WAS, IFNG, STAT1, TGFBR1, HLA-DQB1, F13A1, FCGR2A, GNAI2

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, 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, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARASIL SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, PYCNODYSOSTOSIS, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, ?STEEL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, PCWH SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, 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, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?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, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EHLERS-DANLOS SYNDROME, TYPE IV, AURICULOCONDYLAR SYNDROME 2, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4C, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, COLE-CARPENTER SYNDROME 1, CAFFEY DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, NOONAN SYNDROME 4, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, TUBEROUS SCLEROSIS 2, AURICULOCONDYLAR SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, FIBROCHONDROGENESIS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46,XX SEX REVERSAL, TYPE 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, PAGET DISEASE OF BONE 3, OSTEOGENESIS IMPERFECTA, TYPE XVII, STICKLER SYNDROME, TYPE III, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, ?MYOPATHY, SCAPULOHUMEROPERONEAL, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LOEYS-DIETZ SYNDROME 4, MARSHALL SYNDROME, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, TGFBR1, TGFB2, F13A1, REN, GJA1, HSPB1, IL10, COL1A1, IGF1, COL5A1, CTSK, RAB7A, SQSTM1, TGFB1, LAMA2, COL3A1, COL17A1, MAF, HLA-DRB1, TGFB3, DAG1, COL11A1, ITGB4, COL11A2, P4HB, PRKACA, BMP2, PIK3CA, COL5A2, IGF2, MTOR, AKT1, NGF, SOX10, SOS1, PRKDC, B2M, ITGA6, PRKCD, IFNG, CRYAB, GNAS, PROK2, SPARC, COL27A1, COL1A2, EDN1, HRAS, LRP2, LAMC2, PLCB4, RB1, HTRA1, GNAI2, ALB, HSPG2, LAMA3, STAT3, DDR2, COL7A1, COL2A1, MMP1, PIK3R2, LAMB3, PIK3R1, MMP2

LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, {PSORIASIS SUSCEPTIBILITY 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 6, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, EVEN-PLUS SYNDROME, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CRANIOFRONTONASAL DYSPLASIA, CEREBELLOFACIODENTAL SYNDROME, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, TATTON-BROWN-RAHMAN SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, CEREBROOCULOFACIOSKELETAL SYNDROME 3, KOSAKI OVERGROWTH SYNDROME, INCONTINENTIA PIGMENTI, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, OSTEOLYSIS, FAMILIAL EXPANSILE, SHORT SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, HAJDU-CHENEY SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, IMMUNODEFICIENCY 43, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HYPER-IGE RECURRENT INFECTION SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LOEYS-DIETZ SYNDROME 3, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CLOVE SYNDROME, SOMATIC, WOLCOTT-RALLISON SYNDROME, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, RUBINSTEIN-TAYBI SYNDROME 2, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, SINGLETON-MERTEN SYNDROME 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, AU-KLINE SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

GATA1, TGFBR1, MMP2, TNFRSF11A, NGF, HSPB1, IL10, HNRNPK, PTEN, CREBBP, IRF5, NOTCH2, PIK3R2, IKBKG, ENTPD1, STAT1, VCP, BRF1, CIITA, MTOR, HLA-DRB1, ESR1, PRKACA, TNFAIP3, HLA-B, MECP2, AKT3, AKT1, TP53, BTK, PRKDC, B2M, PLCG2, DNMT3A, DDX58, CBL, IFNG, RPL5, CLASP1, HLA-DQB1, BAG3, HSPD1, RAB7A, DNM2, EIF2AK3, EP300, PIK3CA, ERCC5, SOS1, HRAS, HLA-C, EFTUD2, HSPA9, ERCC2, EFNB1, PDGFRB, SMAD3, PHF8, NME1, HNRNPA1, STAT3, ITGA6, RBPJ, RB1, PIK3R1, HLA-DQA1

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OCULODENTODIGITAL DYSPLASIA, CAMURATI-ENGELMANN DISEASE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, INCONTINENTIA PIGMENTI, HEMOPHILIA A, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, KOSAKI OVERGROWTH SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SHORT SYNDROME, PERIODIC FEVER, FAMILIAL, SMITH-KINGSMORE SYNDROME, RUBINSTEIN-TAYBI SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, METACHONDROMATOSIS, LEUKODYSTROPHY, HYPOMYELINATING, 4, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, AURICULOCONDYLAR SYNDROME 1, CLOVE SYNDROME, SOMATIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, ESTROGEN RESISTANCE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, OSTEOLYSIS, FAMILIAL EXPANSILE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, FACTOR XIIIA DEFICIENCY, TUBEROUS SCLEROSIS 2, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, LOEYS-DIETZ SYNDROME 4, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

TGFB2, TNFRSF11A, NGF, PRKCD, IL10, IGF1, CDK5, LAMC2, LAMA2, IKBKG, PIK3R2, PTPN11, STAT1, TGFB3, LAMA3, CIITA, LAMB3, GNAI3, ESR1, F8, AKT3, AKT1, KRAS, PRKDC, GJA1, ITGA6, IFNG, HLA-DRB1, CRYAB, TGFBR1, HLA-DQA1, TGFB1, PIK3CA, TP53, HSPD1, TNFRSF1A, HLA-DQB1, NLRP1, PDGFRB, F13A1, CREBBP, ALB, HSPG2, STAT3, GNAI2, MTOR, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, CAMURATI-ENGELMANN DISEASE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, FOCAL DERMAL HYPOPLASIA, 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, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, LIMB-MAMMARY SYNDROME, STICKLER SYNDROME, TYPE I, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, DYSAUTONOMIA, FAMILIAL, DEJERINE-SOTTAS DISEASE, 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, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IA, TRIGONOCEPHALY 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, IMMUNODEFICIENCY 43, GREIG CEPHALOPOLYSYNDACTYLY 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, SPLIT-HAND/FOOT MALFORMATION 6, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CAFFEY DISEASE, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OCULOECTODERMAL SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, PSEUDOHYPOPARATHYROIDISM IC, DIAMOND-BLACKFAN ANEMIA 6, 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}, FILS SYNDROME, ANGELMAN SYNDROME, FUHRMANN SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EXUDATIVE VITREORETINOPATHY 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, TARSAL-CARPAL COALITION SYNDROME, ?TETRA-AMELIA SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, AYME-GRIPP SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WAARDENBURG SYNDROME, TYPE 3, LEOPARD SYNDROME 1, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LADD SYNDROME, BRACHYDACTYLY, TYPE A1, HAY-WELLS SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SYMPHALANGISM, PROXIMAL, 1A, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, CULLER-JONES SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, OTOPALATODIGITAL SYNDROME, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SED CONGENITA, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, HYPERPARATHYROIDISM, NEONATAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, CORNELIA DE LANGE SYNDROME 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, 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, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, POLYCYSTIC LIVER DISEASE, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, DISTAL, TATEYAMA TYPE, METACHONDROMATOSIS, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, CRANIOSYNOSTOSIS, TYPE 2, PERIODIC FEVER, FAMILIAL, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ADULT SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, OSTEOGENESIS IMPERFECTA, TYPE XV, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PALLISTER-HALL SYNDROME, MYHRE SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PARIETAL FORAMINA 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HOLT-ORAM SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

BRCA2, EZH2, MMP2, WNT5A, COL1A1, ACTB, GNAS, IKBKG, COL1A2, RPL5, FTL, OTX2, B2M, NOG, EGR2, RAB7A, IKBKAP, HLA-DQA1, PIK3CA, SOS1, BMP4, TGFBR2, HNRNPA1, PDGFRB, SMAD4, CREBBP, GNAI2, MUSK, ACTA1, WNT7A, TGFB2, ACVR1, KRAS, CBL, FGF9, ADCY6, WRN, NOTCH1, THRA, GLI2, CIITA, MTOR, FGFR1, TAF6, MECP2, WNT3, FZD4, MSX2, IL10, COL2A1, IFNG, STAT1, WNT1, TGFBR1, EP300, TAF1, HSPD1, ROR2, T, GSC, TNFRSF11A, STAT3, INS, LRP6, PAX8, GATA1, CAV3, IGF1, DVL3, PAX2, HLA-DRB1, TGFB3, CASR, BMP2, TNFRSF1A, BRCA1, AKT1, CCND2, SMARCA4, TBX5, DVL1, TP53, HLA-DQB1, SLC25A4, IHH, GLI3, POLD1, TERT, PTEN, SLC9A3R1, MAF, ITGA6, RUNX2, RB1, NRAS, FLNA, NGF, CHEK2, PAX3, ACTG1, ALB, PIK3R2, TGFB1, PRKCSH, PTPN11, FGF10, TP63, PRKACA, INSR, HLA-B, AKT3, POLE, DNMT1, FGFR2, PDGFRA, PCNA, APC, HRAS, HLA-C, SMAD3, ATR, HSPG2, ESR1, WNT10B, PORCN, GATA2, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, SCLEROSTEOSIS 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, MICROPHTHALMIA, SYNDROMIC 6, FOCAL DERMAL HYPOPLASIA, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, VAN BUCHEM DISEASE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, PITT-HOPKINS SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, 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, INCONTINENTIA PIGMENTI, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, 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, FUHRMANN SYNDROME, AURICULOCONDYLAR SYNDROME 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CAUDAL REGRESSION SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?TETRA-AMELIA SYNDROME, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, CULLER-JONES SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, WEAVER SYNDROME, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, AURICULOCONDYLAR SYNDROME 1, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, BRACHYDACTYLY, TYPE A2, HYPERPARATHYROIDISM, NEONATAL, WAARDENBURG SYNDROME, TYPE 1, EXUDATIVE VITREORETINOPATHY 4, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, EXUDATIVE VITREORETINOPATHY 1, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, [BONE MINERAL DENSITY VARIABILITY 1], SPONDYLOCOSTAL DYSOSTOSIS 5, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MYHRE SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE XV, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BRACHYDACTYLY, TYPE B1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

DNMT1, WNT7A, EDN1, GPC3, LRP5, WNT5A, CDK5, MMP1, SMAD4, PTEN, HNF4A, DVL3, SP7, WNT3, IKBKG, TAF1, SOST, FLNA, CASR, MTOR, EDNRA, TCF4, PRKACA, OTX2, PAX2, BRCA1, VANGL1, BMP2, CCND2, SOS1, VDR, FRZB, DVL1, MET, TP53, RUNX2, RAB7A, ROR2, PCNA, WNT1, TGFBR1, EP300, GSC, TBX6, APC, AKT1, HRAS, COL1A2, BMP4, T, FZD4, GLI2, SMAD3, PAX3, CREBBP, HSPG2, STAT3, PLCB4, NOTCH1, LRP6, EZH2, PORCN, MUSK, WNT10B

{PSORIASIS SUSCEPTIBILITY 1}, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, METACHONDROMATOSIS, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, IMMUNODEFICIENCY 43, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CLOVE SYNDROME, SOMATIC, THYROTROPIN-RELEASING HORMONE DEFICIENCY, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, HYPERTHYROIDISM, NONAUTOIMMUNE, LEOPARD SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

HLA-DQB1, STAT1, B2M, TSHR, TSHB, IL10, CTLA4, IFNG, HLA-DRB1, HLA-C, HSPD1, STAT3, HLA-B, PTPN11, HLA-DQA1, INS, TRH, PIK3CA, TGFB1, HRAS

CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT 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, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, BLAU SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, MEIER-GORLIN SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PYCNODYSOSTOSIS, AGAMMAGLOBULINEMIA, X-LINKED 1, SPLIT-HAND/FOOT MALFORMATION 4, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, NASU-HAKOLA DISEASE, 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}, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, IMMUNODEFICIENCY 43, 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}, WRINKLY SKIN SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, RHEUMATOID ARTHRITIS, 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, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, TUBEROUS SCLEROSIS 2, MYOPATHY, TUBULAR AGGREGATE, 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COFFIN-SIRIS SYNDROME 4, IMAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CEREBROCOSTOMANDIBULAR SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PITUITARY DEPENDENT HYPERCORTISOLISM, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, COFFIN-SIRIS SYNDROME 3, THYROTROPIN-RELEASING HORMONE DEFICIENCY, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, BERGER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEMOCHROMATOSIS TYPE 1, FACTOR XIIIA DEFICIENCY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, GLYCOGEN STORAGE DISEASE VII, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HYPERTHYROIDISM, NONAUTOIMMUNE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, C1R/C1S DEFICIENCY, COMBINED, LOEYS-DIETZ SYNDROME 5, AYME-GRIPP SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, METACHONDROMATOSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, HAY-WELLS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ADULT SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, RUBINSTEIN-TAYBI SYNDROME 2, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LOEYS-DIETZ SYNDROME 4, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

MMP2, MMP1, RAG1, CIITA, RPL5, ATP6V1B2, BTK, B2M, IL10, HLA-DQA1, PIK3CA, TYROBP, HNRNPA1, PDGFRB, SMAD4, CREBBP, POU1F1, GNAI2, ATP6V0A2, RAG2, ACTA1, ACE, TGFB2, XRCC4, SMARCA4, FSHR, P4HB, NOTCH1, IKBKG, CBL, ORAI1, MAFB, MMP13, IFNG, STAT1, PFKM, EP300, TAF1, HSPD1, TNFRSF1A, T, TSHR, TNFRSF11A, TP63, INS, SMC3, PIGR, FCGR2A, TCIRG1, GJA1, IGF1, CTSK, C1R, HLA-DRB1, TGFB3, APC, SNRPB, BMP2, AKT1, CCND2, SMARCB1, VDR, IGF1R, TP53, HLA-DQB1, EZH2, TNFRSF11B, CDKN1C, TSHB, PEX5, F13A1, MAF, NOD2, ACP5, NFKBIL1, DYNC1H1, RUNX2, PRKDC, TNFSF11, NGF, PIK3R2, TGFB1, IGF2, PTPN11, VCP, SPG7, STAT3, ORC1, HLA-B, PCNA, TRH, CTLA4, PTEN, HRAS, HLA-C, ADA, SERPINF2, SMAD3, ALB, ESR1, PIK3R1

VERHEIJ SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, 46XY SEX REVERSAL 9, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, DYSAUTONOMIA, FAMILIAL, ABLEPHARON-MACROSTOMIA SYNDROME, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, MULTIPLE SYNOSTOSES SYNDROME 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, PSEUDOHYPOPARATHYROIDISM IC, BOHRING-OPITZ SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, MICROPHTHALMIA, SYNDROMIC 2, ADAMS-OLIVER SYNDROME 3, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, EXUDATIVE VITREORETINOPATHY 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HOLT-ORAM SYNDROME, NEUROFIBROMATOSIS, TYPE 1, BRACHYDACTYLY, TYPE A1, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, WAARDENBURG SYNDROME, TYPE 4C, LYSYL HYDROXYLASE 3 DEFICIENCY, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, IMMUNODEFICIENCY 12, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, BRACHYDACTYLY, TYPE E2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, EIKEN SYNDROME, BRACHYDACTYLY, TYPE A2, MUENKE SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, CORNELIA DE LANGE SYNDROME 5, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FRONTONASAL DYSPLASIA 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, WAARDENBURG SYNDROME, TYPE 3, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, IMAGE SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, METACHONDROMATOSIS, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, HAY-WELLS SYNDROME, SED, MAROTEAUX TYPE, LATERAL MENINGOCELE SYNDROME, CRANIOSYNOSTOSIS, TYPE 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, OSTEOGENESIS IMPERFECTA, TYPE XV, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MARFAN LIPODYSTROPHY SYNDROME, CORTISONE REDUCTASE DEFICIENCY 2, BRACHYOLMIA TYPE 3, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ATELOSTEOGENESIS, TYPE I, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, WEAVER SYNDROME, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, KABUKI SYNDROME 2, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEIER-GORLIN SYNDROME 5, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, CLEFT PALATE, ISOLATED, SHPRINTZEN-GOLDBERG SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SOTOS SYNDROME 1, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?RENAL HYPODYSPLASIA/APLASIA 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, TARSAL-CARPAL COALITION SYNDROME, OPSISMODYSPLASIA, BEHR SYNDROME, VAN DEN ENDE-GUPTA SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, METACARPAL 4-5 FUSION, SYMPHALANGISM, PROXIMAL, 1A, COFFIN-LOWRY SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, KNOBLOCH SYNDROME 1, [BONE MINERAL DENSITY VARIABILITY 1], LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE XII, DUCHENNE MUSCULAR DYSTROPHY, ALAGILLE SYNDROME, SPINOCEREBELLAR ATAXIA 27, SPONDYLOPERIPHERAL DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 18, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SED CONGENITA, GLYCOGEN STORAGE DISEASE VII, HYPOCHONDROPLASIA, BECKWITH-WIEDEMANN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, SECKEL SYNDROME 1, GELEOPHYSIC DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BRANCHIOOCULOFACIAL SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, AVASCULAR NECROSIS OF THE FEMORAL HEAD, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BRACHYDACTYLY, TYPE B1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, PARIETAL FORAMINA 1, LEOPARD SYNDROME 1, LOEYS-DIETZ SYNDROME 4, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, BASAL CELL NEVUS SYNDROME, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, PARTINGTON SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, METATROPIC DYSPLASIA, PARIETAL FORAMINA 2, DEJERINE-SOTTAS DISEASE, PARASTREMMATIC DWARFISM, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, GIANT AXONAL NEUROPATHY-1, SPLIT-HAND/FOOT MALFORMATION 6, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, DIAMOND-BLACKFAN ANEMIA 6, PHELAN-MCDERMID SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FANCONI RENOTUBULAR SYNDROME 2, CALCIFICATION OF JOINTS AND ARTERIES, DUANE-RADIAL RAY SYNDROME, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPOPHOSPHATEMIC RICKETS, AR, CORNELIA DE LANGE SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, BETHLEM MYOPATHY 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, BRACHYDACTYLY, TYPE A1, D, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, STIFF SKIN SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CEREBELLOFACIODENTAL SYNDROME, PROUD SYNDROME, CORNELIA DE LANGE SYNDROME 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, AYME-GRIPP SYNDROME, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, BRACHYDACTYLY, TYPE B2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46,XX SEX REVERSAL, TYPE 2, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, VESICOURETERAL REFLUX 8, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, LADD SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MASA SYNDROME, CRASH SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, TRIGONOCEPHALY 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADULT SYNDROME, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, LEUKODYSTROPHY, HYPOMYELINATING, 4, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, DIGITAL CLUBBING, ISOLATED CONGENITAL, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, FUHRMANN SYNDROME, JACKSON-WEISS SYNDROME, APERT SYNDROME, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, IVIC SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, GENITOPATELLAR SYNDROME, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, EXUDATIVE VITREORETINOPATHY 4, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, WILSON-TURNER SYNDROME, WOLCOTT-RALLISON SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PAGET DISEASE OF BONE 3, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MECKEL SYNDROME 4, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, KABUKI SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME

TSC2, EDNRA, HSPB1, GNAS, CIITA, GLI3, RPL5, FTL, PCYT1A, CDC6, KDM6A, B2M, NOG, SCARF2, ITGA3, RAB7A, DNM2, WNK1, POR, TNXB, CREBBP, KMT2C, NONO, NF2, TRPV4, SOX2, ERBB3, HAMP, GATAD2B, DAG1, MTOR, FGF17, IL10, SMARCE1, NR1I3, HSPD1, ROR2, T, TP63, DUSP6, DNMT3A, SMC3, GATA1, CAV3, NCF2, SUFU, SMAD4, DVL3, CEP290, HDAC6, TNFSF11, LAMA3, HES7, AKT1, INPPL1, UBA1, PRKCD, UBE3A, EZH2, TWIST1, NOTCH3, HSPA9, EFNB1, DMP1, IL1RN, CALCR, NOD2, ZFPM2, TNFRSF11A, MASP1, HNRNPK, LAMC2, PIK3R2, PUF60, PTPN11, SPG7, SPRY4, HLA-B, COL6A1, EGR2, SNAP25, HLA-C, ALB, TSC1, HRAS, ACE, SKI, PEX14, KMT2A, ORC4, MMP1, ACTB, COL1A2, UBB, USP8, HSD11B1, GNAI2, SF3B4, TGFBR2, SOX9, ACAN, MMP2, MAP2K2, TFAP2A, ADCY6, NME1, SP7, NOTCH1, MYCN, FGFR1, CFL2, FZD4, MSX2, FSHR, MAFB, PTH1R, KAT6B, HOXA11, RB1, FGF23, STAT3, BRAF, KAT6A, LAMB3, MALT1, NCF1, COL18A1, ALPL, SLC2A2, IGF1, KLC2, BMP2, CRB2, SMC1A, SLC5A7, VDR, FIBP, WAS, TP53, LRP2, LHX4, HK1, GLI2, MAF, ITGA6, KIT, SETX, PAX3, ACTG1, ASXL1, NTRK1, PIP5K1C, KMT2D, DVL1, EIF2AK3, CACNA1C, BLM, DNMT1, LRP5, CRYAB, PCNA, APC, SMAD3, HSPG2, ESR1, HPGD, PLCB4, SLC34A1, F2, SALL1, RAD21, ATRX, SQSTM1, IKBKG, AGT, GNAI3, CDK5, KDM1A, WNT5A, FRZB, STK11, SALL4, ITCH, BCOR, PPP1R15B, COL1A1, PIK3CA, JAG1, HNRNPA1, COL2A1, RBPJ, NF1, ARNT2, ACTA1, VRK1, GRIP1, SMARCA4, CBL, TWIST2, WNT10B, IGF2, PIGT, NOTCH2, GATA2, SHANK3, MMP13, PLOD3, MET, ICK, PFKM, NR2F1, FKBP14, TMEM173, TSHR, GSC, SLC22A4, RPS6KA3, ACVR1, VCP, ALX4, INS, COL7A1, GNB4, DDX3X, HSD17B10, AGTR1, PAX2, LMX1B, STAT1, CNTN1, TGFB1, HNF4A, RAPSN, TNFRSF1A, TBX5, PTHLH, TUBB3, CYBB, FOXC2, FBN1, IHH, PTEN, FGFR3, SLC9A3R1, BTK, NRAS, FGF14, SMARCB1, HDAC8, CHEK2, WNT3, FGF10, ITGB4, DMD, TFG, TCF4, SOS1, FGF16, UCHL1, F10, LAMA2, FLNB, BRCA2, KISS1, NT5E, SOX5, TBX3, COL5A1, OTX2, PRKAR1A, GAN, EDN1, SOX10, EFEMP2, CLASP1, NEU1, BMP4, ERCC2, PDGFRB, THRB, PTCH1, WNT7A, KRAS, HOXD10, TPM3, PTCH2, MECOM, COPA, IKBKAP, IFNG, PRX, HLA-DRB1, WNT1, TGFBR1, EP300, TAF1, ZBTB16, NLRP1, LRP6, PAX8, GPC3, GJA1, SMARCA2, TBX6, MECP2, COL17A1, KPTN, TGFB3, TGFB2, CASR, GCK, CCND2, SETD5, PRKDC, BRCA1, IGF1R, TAF2, CDKN1C, MUSK, FGF9, CHRM3, DLX5, RUNX2, FLNA, MYH11, BIN1, BMPR1B, NGF, BRF1, NSD1, PRKACA, INSR, AKT3, FGFR2, PLCG2, RPL11, PDGFRA, L1CAM, OPA1, RET, ARX, MTRR, FGF20, HACE1, NHP2, STX16, ATR, HFE, PORCN, PIK3R1

LOEYS-DIETZ SYNDROME 5, AYME-GRIPP SYNDROME, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, OCULODENTODIGITAL DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, LOEYS-DIETZ SYNDROME 3, BLAU SYNDROME, CLOVE SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ESTROGEN RESISTANCE, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, RUBINSTEIN-TAYBI SYNDROME 2, PYCNODYSOSTOSIS, FACTOR XIIIA DEFICIENCY, TUBEROUS SCLEROSIS 2, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

TGFB2, SMAD3, GJA1, CTSK, CIITA, STAT1, TGFB3, TGFB1, STAT3, NGF, VDR, ESR1, IL10, IFNG, HLA-DRB1, EP300, PIK3CA, HLA-DQB1, F13A1, CREBBP, MAF, NOD2, HLA-DQA1

CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, COCKAYNE SYNDROME, TYPE A, PEUTZ-JEGHERS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, 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, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, PARIETAL FORAMINA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 2, IMMUNODEFICIENCY 43, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, LEBER OPTIC ATROPHY AND DYSTONIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, HYPERTHYROIDISM, NONAUTOIMMUNE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, 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, DIAMOND-BLACKFAN ANEMIA 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, ?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, FANCONI-BICKEL SYNDROME, ADAMS-OLIVER SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, COFFIN-SIRIS SYNDROME 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4C, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?DYSTONIA 23, EMBERGER SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, ?INFANTILE LIVER FAILURE SYNDROME 1, CULLER-JONES SYNDROME, TIMOTHY SYNDROME, HOLOPROSENCEPHALY-9, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTONASAL DYSPLASIA 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, LOEYS-DIETZ SYNDROME 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, WOLCOTT-RALLISON SYNDROME, METACHONDROMATOSIS, 46,XX SEX REVERSAL, TYPE 2, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MYHRE SYNDROME, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, CURRARINO SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

F2, KMT2A, HSPB1, LARS, CACNA1B, RPL5, FTL, AGT, CDK5, OTX2, ERCC8, GJA1, SOX10, B2M, STK11, SEC23A, PIK3CA, BMP4, TGFBR2, SMAD4, CREBBP, MAFB, RBPJ, PTEN, ACTA1, SOX9, SMARCA4, IL10, SP7, NOTCH1, GATA2, EDNRA, SDHC, SDHB, CBL, HLA-DQA1, IFNG, VPS33B, CRYAB, EP300, HSPD1, NR2F1, TNFRSF1A, T, TSHR, RB1, STAT3, ALX4, INS, ABCC8, CAV3, KCNJ11, SLC2A2, HNF1B, IGF1, COX6A1, SDHD, HLA-DRB1, GCK, HNF4A, PMPCA, AKT1, SMARCB1, INPPL1, VDR, IGF1R, TP53, HLA-DQB1, ITCH, GAD1, HK1, GLI2, UMOD, HAMP, ITGA6, MT-ND3, GSC, NGF, PRKCD, PIK3R2, TGFB1, SDHA, PTPN11, EIF2AK3, TSC1, PRKACA, CACNA1C, INSR, HLA-B, AKT3, MNX1, COX4I2, PCNA, HRAS, HLA-C, COX7B, ESR1, MTOR, PIK3R1

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, KOSAKI OVERGROWTH SYNDROME, OCULODENTODIGITAL DYSPLASIA, OCULOECTODERMAL SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, 46,XX SEX REVERSAL, TYPE 2, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ENDOCRINE-CEREBROOSTEODYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, OTOPALATODIGITAL SYNDROME, TYPE I, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, FRONTOMETAPHYSEAL DYSPLASIA, AURICULOCONDYLAR SYNDROME 1, MELNICK-NEEDLES SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AURICULOCONDYLAR SYNDROME 2, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, DEJERINE-SOTTAS DISEASE, HYPERPARATHYROIDISM, NEONATAL, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, OSSEOUS HETEROPLASIA, PROGRESSIVE, AURICULOCONDYLAR SYNDROME 3, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MYOPATHY, DISTAL, TATEYAMA TYPE, ROBINOW SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MENTAL RETARDATION, X-LINKED 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CLEFT PALATE, ISOLATED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, COFFIN-LOWRY SYNDROME

SOX9, GJB6, KRAS, CAV3, MAP2K2, SLC9A3R1, DVL3, GNAS, TGFB1, F2, CASR, MTOR, GNAI3, PRKACA, TUBB, FLNA, EDN1, TUBB3, GJA1, CBL, TP53, ICK, PDGFRA, GRM1, SOS1, HRAS, PDGFRB, ADCY6, NRAS, RPS6KA3, STAT3, PLCB4, GNAI2, INS, GJB1, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, BASAL CELL NEVUS SYNDROME, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MULTIPLE SULFATASE DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ATELOSTEOGENESIS, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, FOCAL DERMAL HYPOPLASIA, 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, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, 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, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, OTOPALATODIGITAL SYNDROME, TYPE II, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SYNOSTOSES SYNDROME 1, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, LOEYS-DIETZ SYNDROME 2, PAGET DISEASE OF BONE 3, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, SPINOCEREBELLAR ATAXIA 27, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CLEFT PALATE, ISOLATED, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, 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, CAFFEY DISEASE, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, SYMPHALANGISM, PROXIMAL, 1A, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 3, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, RENAL TUBULAR DYSGENESIS, SHORT SYNDROME, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATEMIC RICKETS, AR, ACROCAPITOFEMORAL DYSPLASIA, TARSAL-CARPAL COALITION SYNDROME, ?TETRA-AMELIA SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ?RENAL HYPODYSPLASIA/APLASIA 2, STICKLER SYNDROME, TYPE I, WAARDENBURG SYNDROME, TYPE 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, LADD SYNDROME, METACARPAL 4-5 FUSION, SPLIT-HAND/FOOT MALFORMATION 1, BRACHYDACTYLY, TYPE A1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, VAN BUCHEM DISEASE, TYPE 2, ?OSTEOGENESIS IMPERFECTA, TYPE XII, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, EMBERGER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, [BONE MINERAL DENSITY VARIABILITY 1], HOLOPROSENCEPHALY-9, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ?WEBB-DATTANI SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SED CONGENITA, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE 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, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MUENKE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 1, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, TUBEROUS SCLEROSIS 2, HEMOCHROMATOSIS TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, CORNELIA DE LANGE SYNDROME 1, HYPOCHONDROPLASIA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EXUDATIVE VITREORETINOPATHY 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, POLYCYSTIC LIVER DISEASE, INCONTINENTIA PIGMENTI, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, METACHONDROMATOSIS, 46,XX SEX REVERSAL, TYPE 2, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYHRE SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NOONAN SYNDROME 7, AVASCULAR NECROSIS OF THE FEMORAL HEAD, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, OSTEOGENESIS IMPERFECTA, TYPE XV, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, APERT SYNDROME, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, PALLISTER-HALL SYNDROME, MASA SYNDROME, CRASH SYNDROME, KABUKI SYNDROME 1, LEOPARD SYNDROME 1, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, BRACHYDACTYLY, TYPE B1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ATELOSTEOGENESIS, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

SLC34A1, BRCA2, IHH, F2, TNFRSF1A, PLOD3, WNT5A, TSC2, COL1A1, SQSTM1, IKBKG, COL1A2, SMARCA4, AP2S1, FTL, AGT, CDK5, OTX2, PRKAR1A, EDN1, KMT2A, FRZB, NOG, ITGA3, MMP1, COL10A1, PIK3CA, PTCH2, BMP4, JAG1, TGFBR2, PDGFRB, SMAD4, CREBBP, COL2A1, DMP1, ARNT2, ACTA1, VRK1, TGFB2, KRAS, ERBB3, GLI2, MAP2K2, FGF9, SP7, WNT10B, NOTCH1, MYCN, DAG1, CENPF, GATA2, FGFR1, MET, LAMA2, FGF17, FZD4, MECOM, CBL, ITGA6, MMP13, TFG, WNT1, TGFBR1, EP300, TGFB3, HSPD1, ROR2, T, ZBTB16, GSC, FGF23, BIN1, RPS6KA3, STAT3, DUSP6, BRAF, INS, LRP6, PAX8, PTCH1, ITGB4, GJA1, WNT7A, SUFU, IGF1, DVL3, PAX2, COL17A1, STAT1, HDAC6, LRP5, LAMA3, LAMB3, SOX9, BMP2, FGF20, BRCA1, MTOR, PTHLH, AKT1, CCND2, SOX2, PRKDC, IGF1R, COL18A1, TP53, EZH2, GLI3, PTEN, FGFR3, MUSK, HAMP, DLX5, KIT, RUNX2, SUMF1, RB1, VDR, NRAS, FLNA, FGF14, TNFRSF11A, NGF, PRKCD, HNRNPK, PAX3, LAMC2, PIK3R2, NTRK1, WNT3, PTPN11, KMT2D, DVL1, FGF10, TGFB1, CRYAB, PRKACA, INSR, AKT3, SOS1, DNMT1, FGFR2, PLCG2, PDGFRA, L1CAM, PCNA, RET, TBX6, APC, HRAS, FGF16, LRP2, SMAD3, ALB, HSPG2, ESR1, COL7A1, FLNB, PORCN, TPM3, PIK3R1, MMP2

BARAITSER-WINTER SYNDROME 1, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CZECH DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, 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, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BARAITSER-WINTER SYNDROME 2, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, DEJERINE-SOTTAS DISEASE, ?DYSTONIA 23, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PSEUDOHYPOPARATHYROIDISM IA, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ARTHROGRYPOSIS, DISTAL, TYPE 8, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, DIAMOND-BLACKFAN ANEMIA 6, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, RHEUMATOID ARTHRITIS, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, FACTOR X DEFICIENCY, LIMB-MAMMARY SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, NOONAN SYNDROME 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MUSCULAR DYSTROPHY, CONGENITAL, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, RESTRICTIVE DERMOPATHY, LETHAL, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, LIANG DISTAL MYOPATHY, MALOUF SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOPERIPHERAL DYSPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, METACHONDROMATOSIS, 46,XX SEX REVERSAL, TYPE 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, HAY-WELLS SYNDROME, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ADULT SYNDROME, ESTROGEN RESISTANCE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, HEART-HAND SYNDROME, SLOVENIAN TYPE, MYHRE SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

PDE4D, NCF1, ACTB, IGBP1, CACNA1B, COL1A2, RPL5, PTHLH, GJA1, MYH7, STK11, CBL, EGR2, ITGA3, RAB7A, HLA-DQA1, DES, PIK3CA, BMP4, EMD, SMAD4, MYH3, ADCY6, GNAI2, ACE, TGFB2, MMP2, ERBB3, IL10, CREBBP, IGF2, GNAS, DAG1, TPM3, CAPN3, DSP, COL2A1, IFNG, TPM2, TGFBR1, EP300, HSPD1, TNFRSF1A, T, TSHR, TNNT2, TP63, INS, CAV3, ITGA8, SOX9, IGF1, SGCA, HLA-DRB1, TGFB3, DMD, BMP2, HRAS, AKT1, SMARCB1, TP53, HLA-DQB1, TTN, PTEN, F13A1, ITGA6, FLNA, MYH11, BIN1, B2M, ACTG1, LAMA2, TGFB1, PTPN11, LMNA, ITGB4, ESR1, PRKACA, CACNA1C, HLA-B, AP4M1, SOS1, DST, SGCG, CRYAB, F10, HLA-C, ITGA7, SMAD3, NEB, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, CAMURATI-ENGELMANN DISEASE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ATELOSTEOGENESIS, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, FOCAL DERMAL HYPOPLASIA, 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, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, CAFFEY DISEASE, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MICROPHTHALMIA, SYNDROMIC 6, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OTOPALATODIGITAL SYNDROME, TYPE II, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RENAL TUBULAR DYSGENESIS, TRIGONOCEPHALY 1, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, RUBINSTEIN-TAYBI SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ?TETRA-AMELIA SYNDROME, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, STICKLER SYNDROME, TYPE I, WAARDENBURG SYNDROME, TYPE 3, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SPLIT-HAND/FOOT MALFORMATION 1, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, OCULOECTODERMAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SED CONGENITA, KNIEST DYSPLASIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ABLEPHARON-MACROSTOMIA SYNDROME, HEMOCHROMATOSIS TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, EXUDATIVE VITREORETINOPATHY 1, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, 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, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, DISTAL, TATEYAMA TYPE, KOSAKI OVERGROWTH SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, METACHONDROMATOSIS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NOONAN SYNDROME 7, AVASCULAR NECROSIS OF THE FEMORAL HEAD, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE XV, LADD SYNDROME, PALLISTER-HALL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, BANNAYAN-RILEY-RUVALCABA SYNDROME, DEJERINE-SOTTAS DISEASE, MASA SYNDROME, CRASH SYNDROME, LEOPARD SYNDROME 1, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, PREMATURE AGING SYNDROME, PENTTINEN TYPE, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ATELOSTEOGENESIS, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

COL10A1, F2, FGFR1, WNT5A, COL1A1, ACTB, TWIST1, COL1A2, AGT, OTX2, KDM1A, COL6A1, EGR2, DNM2, PIK3CA, MMP2, BMP4, TGFBR2, SMAD4, CREBBP, COL2A1, PDGFRB, ACTA1, WNT7A, TGFB2, KRAS, ERBB3, GLI2, HOXD10, FGF9, NME1, IGF2, NOTCH1, DAG1, MTOR, EDNRA, FZD4, CBL, ITGA6, MET, IFNG, WNT1, PFKM, EP300, ROR2, T, GSC, ACVR1, BRAF, INS, EZH2, COL7A1, PTCH1, CAV3, GPC3, GJA1, SMARCA2, TWIST2, IGF1, DVL3, PAX2, COL17A1, STAT1, CASR, DMD, BMP2, BRCA1, AKT1, SMARCA4, IGF1R, TP53, MAP2K2, IHH, GLI3, PTEN, MUSK, DLX5, RUNX2, NRAS, FLNA, BIN1, PRKCD, PAX3, ACTG1, PIK3R2, TGFB1, WNT3, PTPN11, DVL1, FGF10, STAT3, PRKACA, INSR, AKT3, SOS1, DNMT1, PLCG2, CRYAB, L1CAM, COL18A1, HRAS, ALB, HSPG2, ESR1, WNT10B, FLNB, PORCN, PIK3R1

LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, KOSAKI OVERGROWTH SYNDROME, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, SHORT SYNDROME, METACHONDROMATOSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HAY-WELLS SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ADULT SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, WRINKLY SKIN SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OSTEOLYSIS, FAMILIAL EXPANSILE, RHEUMATOID ARTHRITIS, LIMB-MAMMARY SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RUBINSTEIN-TAYBI SYNDROME 2, PYCNODYSOSTOSIS, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, TUBEROUS SCLEROSIS 2, SPLIT-HAND/FOOT MALFORMATION 4, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE VII, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

ACTA1, PFKM, TGFB2, MMP2, CBL, MMP1, SMAD4, CTSK, PIK3R2, TGFB1, PTPN11, HLA-DRB1, TGFB3, TNFSF11, SPG7, STAT3, TCIRG1, TNFRSF1A, TNFRSF11B, TP53, IL10, MMP13, IFNG, ACP5, TGFBR1, EP300, PIK3CA, CTLA4, HRAS, HLA-DQB1, ATP6V1B2, PDGFRB, TNFRSF11A, TP63, HLA-DQA1, INS, ATP6V0A2, PTEN, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, SPONDYLOCOSTAL DYSOSTOSIS 5, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, 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, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, OSTEOLYSIS, FAMILIAL EXPANSILE, GALACTOSIALIDOSIS, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?OSTEOGENESIS IMPERFECTA, TYPE XII, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, FOCAL DERMAL HYPOPLASIA, POPLITEAL PTERYGIUM SYNDROME 1, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, {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, ANGELMAN SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, BLAU SYNDROME, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, LIMB-MAMMARY SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CAMURATI-ENGELMANN DISEASE, HUTCHINSON-GILFORD PROGERIA, WAARDENBURG SYNDROME, TYPE 3, DYSAUTONOMIA, FAMILIAL, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 7, LEOPARD SYNDROME 3, AGAMMAGLOBULINEMIA, X-LINKED 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FAMILIAL MEDITERRANEAN FEVER, AR, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, LOEYS-DIETZ SYNDROME 2, RENAL ADYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), SPLIT-HAND/FOOT MALFORMATION 4, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, MANDIBULOACRAL DYSPLASIA, INCONTINENTIA PIGMENTI, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEIER-GORLIN SYNDROME 5, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?BARDET-BIEDL SYNDROME 11, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SINGLETON-MERTEN SYNDROME 1, ACROMICRIC DYSPLASIA, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ADAMS-OLIVER SYNDROME 5, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, 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, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CEREBROOCULOFACIOSKELETAL SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FEINGOLD SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, SYMPHALANGISM, PROXIMAL, 1A, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIAMOND-BLACKFAN ANEMIA 6, CINCA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CRANIOSYNOSTOSIS, TYPE 2, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, 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}, FILS SYNDROME, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, EXUDATIVE VITREORETINOPATHY 1, OSTEOGENESIS IMPERFECTA, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, OTOPALATODIGITAL SYNDROME, TYPE II, 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, STIFF SKIN SYNDROME, OHDO SYNDROME, X-LINKED, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, PRADER-WILLI SYNDROME, TARSAL-CARPAL COALITION SYNDROME, ?TETRA-AMELIA SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, KOOLEN-DE VRIES SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MALOUF SYNDROME, STICKLER SYNDROME, TYPE I, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, LEOPARD SYNDROME 1, PARIETAL FORAMINA 1, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BARAITSER-WINTER SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LADD SYNDROME, BRACHYDACTYLY, TYPE A1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, CAFFEY DISEASE, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {PSORIASIS SUSCEPTIBILITY 1}, CULLER-JONES SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, 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, HOLT-ORAM SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HOLOPROSENCEPHALY-9, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, JACKSON-WEISS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, ?DYSTONIA, JUVENILE-ONSET, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 43, MULTIPLE SYNOSTOSES SYNDROME 1, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SED CONGENITA, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, GELEOPHYSIC DYSPLASIA 2, APERT SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEMOPHILIA A, NICOLAIDES-BARAITSER SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, WAARDENBURG SYNDROME, TYPE 1, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MEIER-GORLIN SYNDROME 2, TUBEROUS SCLEROSIS 2, CEREBELLOFACIODENTAL SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HEMOCHROMATOSIS TYPE 1, SECKEL SYNDROME 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SINGLETON-MERTEN SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, BECKWITH-WIEDEMANN SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, FRAGILE X SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, IMAGE SYNDROME, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, AYME-GRIPP SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, OPITZ-KAVEGGIA SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, POLYCYSTIC LIVER DISEASE, BLOOM SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, METACHONDROMATOSIS, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, FAMILIAL MEDITERRANEAN FEVER, AD, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, WOLCOTT-RALLISON SYNDROME, MUCKLE-WELLS SYNDROME, LUJAN-FRYNS SYNDROME, HAJDU-CHENEY SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, EMBERGER SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, HAY-WELLS SYNDROME, SMED STRUDWICK TYPE, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, ADULT SYNDROME, NOONAN SYNDROME 7, AVASCULAR NECROSIS OF THE FEMORAL HEAD, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE XV, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SENIOR-LOKEN SYNDROME 9, HEART-HAND SYNDROME, SLOVENIAN TYPE, MYHRE SYNDROME, 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, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PALLISTER-HALL SYNDROME, DEJERINE-SOTTAS DISEASE, MYOPATHY, MYOFIBRILLAR, 6, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, BRACHYDACTYLY, TYPE B2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, ADAMS-OLIVER SYNDROME 3, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC