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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 url:https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page url:http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/ http://purl.obolibrary.org/obo/ECO_0007636 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ORDO:97242
  • GARD:9138
  • ICD9CM:359.0
  • OMIM:254100
  • SNOMEDCT_US_2020_09_01:193221009
  • UMLS_CUI:C2937300
Subsets

DO_rare_slim

comment

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

has obo namespace

disease_ontology

id

DOID:0050557