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Duchenne muscular dystrophy

^ http://purl.obolibrary.org/obo/DOID_11723


A muscular dystrophy that has material basis in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. [ url:http://www.genome.gov/19518854 url:http://omim.org/entry/300377 url:http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy ]

Synonyms: Muscular dystrophy, Duchenne

Term info

database cross reference
  • OMIM:310200
  • SNOMEDCT_US_2018_03_01:76670001
  • MESH:D020388
  • GARD:6291
  • MTHICD9_2006:359.1
  • NCI:C75482
  • UMLS_CUI:C0013264
Subsets

DO_FlyBase_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:11723