Disease Browser
Parent Node: Genetic Diseases, Inborn (D030342) Parent Node: Muscular Disorders, Atrophic (D020966) ..Starting node .. Muscular Dystrophies (D009136) Child Nodes:
........Alpha-B Crystallinopathy with Cataract (C563849) ........Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960) ........Bassoe syndrome (C537661) ........Bethlem myopathy (C535436) ........Distal Myopathies (D049310) 11 ........Filaminopathy, autosomal dominant (C537932) ........Glycogen Storage Disease Type VII (D006014) ........Muscular Dystrophies, Limb-Girdle (D049288) 33 ........Muscular dystrophy congenital, merosin negative (C537384) ........Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361) ........Muscular Dystrophy, Barnes Type (C563558) ........Muscular Dystrophy, Cardiac Type (C563247) ........Muscular Dystrophy, Congenital, 1B (C565748) ........Muscular Dystrophy, Congenital, 1C (C564691) ........Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506) ........Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency (C567709) ........Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency (C564317) ........Muscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385) ........Muscular Dystrophy, Congenital, Lmna-Related (C567708) ........Muscular Dystrophy, Congenital, Megaconial Type (C566527) ........Muscular Dystrophy, Congenital, Merosin-Positive (C563716) ........Muscular Dystrophy, Congenital, plus Mental Retardation (C565505) ........Muscular Dystrophy, Congenital, Producing Arthrogryposis (C564985) ........Muscular Dystrophy, Congenital, Type 1D (C563844) ........Muscular Dystrophy, Congenital, With Cerebellar Atrophy (C566392) ........Muscular Dystrophy, Congenital, with Rapid Progression (C564983) ........Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378) ........Muscular Dystrophy, Duchenne (D020388) 1 ........Muscular Dystrophy, Emery-Dreifuss (D020389) 10 ........Muscular Dystrophy, Facioscapulohumeral (D020391) 4 ........Muscular Dystrophy, Mabry Type (C564096) ........Muscular Dystrophy, Oculopharyngeal (D039141) 1 ........Muscular Dystrophy, Progressive Pectorodorsal (C564095) ........Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries (C563554) ........MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155) ........MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156) ........MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151) ........MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840) ........MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 (OMIM:606612) ........MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 (OMIM:613152) ........Myopathy with Abnormal Lipid Metabolism (C562935) ........Myopathy, Myofibrillar, Desmin-Related (C563319) ........Myopathy, Myofibrillar, Zasp-Related (C563718) ........Myotonic Dystrophy (D009223) 1 ........Oculopharyngodistal Myopathy (C563508) ........Rigid spine syndrome (C535683) ........Scleroatonic muscular dystrophy (C537521) ........Vacuolar Neuromyopathy (C566617) ........Walker-Warburg Syndrome (D058494) 7 Sister Nodes: ..Muscular Dystrophies (D009136) 117 ..Optic atrophy polyneuropathy deafness (C537129) ..Postpoliomyelitis Syndrome (D016262) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 7504
Name: Muscular Dystrophies
Definition: A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
Alternative IDs:
ParentIDs: MESH:D020966|MESH:D030342
TreeNumbers: C05.651.534.500 |C10.668.491.175.500 |C16.320.577
Synonyms: Dystrophies, Muscular |Dystrophy, Muscular |Muscular Dystrophy |Myodystrophica |Myodystrophicas |Myodystrophies |Myodystrophy
Slim Mappings: Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease
Reference:
MedGen: D009136
MeSH: D009136
OMIM: Genes: Phenotypes Disease Causing ClinVar Variants