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congenital muscular dystrophy

^ http://purl.obolibrary.org/obo/DOID_0050557


A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. [ http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007636 url:http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/ url:https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page ]

Term info

database cross reference
  • OMIM:254100
  • ORDO:97242
  • ICD9CM:359.0
  • UMLS_CUI:C2937300
  • GARD:9138
Subsets

DO_rare_slim

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050557

Term relations

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