Visualize
Metadata
DOID DOID:11723
Name Duchenne muscular dystrophy
Definition A muscular dystrophy that has_material_basis_in X-linked disease that has material basis in 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.
http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy, http://omim.org/entry/300377, http://www.genome.gov/19518854
Xrefs

GARD:6291

MESH:D020388

MTHICD9_2006:359.1

NCI:C75482

OMIM:310200

SNOMEDCT_US_2018_03_01:76670001

UMLS_CUI:C0013264

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

Muscular dystrophy, Duchenne [EXACT]

Relationships

is_a muscular dystrophy

Add an item to the term tracker