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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Contracture +     
Aase Smith Syndrome 
Alopecia Contractures Dwarfism Mental Retardation 
arthrogryposis due to muscular dystrophy  
Axial Mesodermal Dysplasia Spectrum 
Bethlem myopathy +   
A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene. (DO)
Bone Fragility with Contractures, Arterial Rupture, and Deafness  
Bowen Syndrome 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
congenital contractural arachnodactyly  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Contractures, Torticollis, and Malignant Hyperthermia 
Congenital Ectodermal Dysplasia with Hearing Loss 
congenital merosin-deficient muscular dystrophy 1A +   
congenital muscular dystrophy 1B 
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital muscular dystrophy due to integrin alpha-7 deficiency  
congenital muscular dystrophy due to LMNA mutation  
congenital muscular dystrophy merosin-positive 
Congenital Muscular Dystrophy plus Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
Congenital Muscular Dystrophy with Cerebellar Atrophy 
Congenital Muscular Dystrophy with Rapid Progression 
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
Congenital Muscular Dystrophy, Davignon-Chauveau Type  
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes +   
Davenport Donlan Syndrome 
Dupuytren Contracture +  
Dystonia with Ringbinden 
Erosive Arthropathy 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
hereditary spastic paraplegia 18  
Hip Contracture  
histiocytosis-lymphadenopathy plus syndrome  
Iida Kannari Syndrome 
lethal congenital contracture syndrome 3  
lethal restrictive dermopathy  
Macleod Fraser syndrome 
Marden-Walker Syndrome  
megaconial type congenital muscular dystrophy  
Mental Retardation Mietens Weber Type 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Miles-Carpenter syndrome +   
Multiple Pterygium Syndrome, X-Linked 
muscular dystrophy-dystroglycanopathy +   
plantar fascial fibromatosis 
proximal myopathy and ophthalmoplegia  
rigid spine muscular dystrophy 1  
Rozin Hertz Goodman Syndrome 
Spondylospinal Thoracic Dysostosis 
stiff skin syndrome  
Ullrich congenital muscular dystrophy +   
Van den Ende-Gupta syndrome  
Volkmann contracture 
Walker-Warburg syndrome +   
Warburg-Cinotti Syndrome  
Winchester syndrome  
Winter Harding Hyde Syndrome 
X-linked Emery-Dreifuss muscular dystrophy 1  

Synonyms
Exact Synonyms: Benign Congenital Muscular Dystrophy ;   Benign Congenital Myopathy with Contractures
Narrow Synonyms: BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
Broad Synonyms: COLLAGEN VI-RELATED MYOPATHY
Primary IDs: MESH:C535436
Xrefs: GARD:873 ;   OMIM:PS158810
Definition Sources: https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy "DO"

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