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Duchenne Muscular Dystrophy

^ http://purl.obolibrary.org/obo/NCIT_C75482


An X-linked inherited disorder caused by 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. [ NCI ]

Synonyms: Duchenne Muscular Dystrophy

Term info

Legacy Concept Name

Duchenne_Muscular_Dystrophy

Preferred Name

Duchenne Muscular Dystrophy

Semantic Type

Disease or Syndrome

UMLS CUI

C0013264

code

C75482

Term relations