Connective Tissue, Muscle, and Bone Disorders

Description  OMIM Number 
ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM 100100
ACHONDROGENESIS, TYPE IA; ACG1A 200600
ACHONDROGENESIS, TYPE II; ACG2 200610
ACHONDROPLASIA; ACH 100800
ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE DEFICIENCY 600121
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE 106260
APERT SYNDROME 101200
ATRIOVENTRICULAR SEPTAL DEFECT; AVSD 600309
BULBAR PALSY, PROGRESSIVE, WITH PERCEPTIVE DEAFNESS 211530
CAMPOMELIC DYSPLASIA 114290
CARTILAGE-HAIR HYPOPLASIA; CHH 250250
CENTRAL CORE DISEASE OF MUSCLE 117000
CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 214150
CHERUBISM 118400
CHONDRODYSPLASIA, GREBE TYPE 200700
CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 225060
CLEFT PALATE ISOLATED; CPI 119540
CLEIDOCRANIAL DYSPLASIA; CCD 119600
COCKAYNE SYNDROME TYPE A; CSA 216400
COCKAYNE SYNDROME TYPE B; CSB 133540
COCKAYNE SYNDROME, TYPE III 216411
CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA 121050
CORNELIA DE LANGE SYNDROME 1; CDLS1 122470
CUTIS LAXA 219100
DYGGVE-MELCHIOR-CLAUSEN DISEASE 223800
DYSCHONDROSTEOSIS 127300
DYSTONIA 1, TORSION; DYT1 128100
DYSTONIA MUSCULORUM DEFORMANS 2; DYT2 224500
DYSTROPHIA MYOTONICA 1 160900
ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1 305100
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 129900
EHLERS-DANLOS SYNDROME CLASSIC TYPE 130000
EHLERS-DANLOS SYNDROME TYPE III 130020
EHLERS-DANLOS SYNDROME, TYPE II; EDS2 130010
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT 130050
EHLERS-DANLOS SYNDROME, TYPE VI 225400
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE 225410
ELLIS-VAN CREVELD SYNDROME; EVC 225500
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1; EDMD1 310300
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD 603034
EPIDERMOLYSIS BULLOSA LETALIS 226700
EXOSTOSES, MULTIPLE, TYPE I; EXT1 133700
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP 135100
FRONTONASAL DYSPLASIA 136760
GLYCOGEN STORAGE DISEASE VIII (GLYCOGEN STORAGE DISEASE IX, INCLUDED) 306000
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS 175700
HOLT-ORAM SYNDROME; HOS 142900
HYPOCHONDROPLASIA; HCH 146000
HYPOPHOSPHATASIA, CHILDHOOD 241510
HYPOPHOSPHATASIA, INFANTILE 241500
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 307800
ICHTHYOSIFORM ERYTHRODERMA, BROCQ CONGENITAL, NONBULLOUS FORM 242100
ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE 242500
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD 167320
INCONTINENTIA PIGMENTI; IP 308300
JACKSON-WEISS SYNDROME; JWS 123150
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT 118100
KNIEST DYSPLASIA 156550
LANGER MESOMELIC DYSPLASIA 249700
LANGER-GIEDION SYNDROME; LGS 150230
LEPRECHAUNISM 246200
LIG4 SYNDROME 606593
MARFAN SYNDROME; MFS 154700
METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY 250450
MOEBIUS SYNDROME; MBS 157900
MUSCULAR DYSTROPHY BECKER TYPE; BMD 300376
MUSCULAR DYSTROPHY DUCHENNE TYPE; DMD 310200
MUSCULAR DYSTROPHY LIMB-GIRDLE TYPE 2A; LGMD2A 253600
MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA 255140
MYOTUBULAR MYOPATHY 1; MTM1 310400
NEMALINE MYOPATHY 5; NEM5 605355
OROFACIAL CLEFT 1; OFC1 119530
OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION 166990
OSTEOGENESIS IMPERFECTA, TYPE I 166200
OSTEOGENESIS IMPERFECTA, TYPE IV; OI4 166220
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS 259730
PARANA HARD-SKIN SYNDROME 260530
PETERS-PLUS SYNDROME 261540
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II 263520
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 263650
PROTEUS SYNDROME 176920
PSEUDOACHONDROPLASTIC DYSPLASIA 177170
PSEUDOTRISOMY 13 SYNDROME 264480
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 215100
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 222765
SC PHOCOMELIA SYNDROME 269000
SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME 269150
SCHWARTZ-JAMPEL SYNDROME; SJS 255800
SECKEL SYNDROME 210600
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212
SIMPSON DYSMORPHIA SYNDROME; SDYS 312870
SPINAL AND BULBAR MUSCULAR ATROPHY X-LINKED 1; SMAX1 313200
SPINAL MUSCULAR ATROPHY I; SMA1 253300
SPINAL MUSCULAR ATROPHY II; SMA II 253550
SPONDYLOEPIMETAPHYSEAL DYSPLASIA SPONASTRIME TYPE 271510
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS 603546
SPONDYLOPERIPHERAL DYSPLASIA 271700
THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL 187601
THANATOPHORIC DYSPLASIA; TD 187600
TORG-WINCHESTER SYNDROME 259600
TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED 601675
VARADI-PAPP SYNDROME 277170
VERTEBRAL ANOMALIES 277300
WEAVER SYNDROME 277590
WILLIAMS-BEUREN SYNDROME; WBS 194050
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC 278720
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD 278730