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congenital muscular dystrophy

Go to external page http://purl.obolibrary.org/obo/MONDO_0019950

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. [ DOID:0050557 ]

Synonyms: CMD MDC

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:359.0 (DOID:0050557)
  • GARD:9138 (Orphanet:97242)
  • DOID:0050557 (MONDO:equivalentTo)
  • SCTID:240059009 (MONDO:equivalentTo)
  • EFO:0006819 (MONDO:equivalentTo)
  • Orphanet:97242 (MONDO:equivalentTo)
  • UMLS:C0699743 (Orphanet:97242/e)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5658

https://github.com/monarch-initiative/mondo/issues/4069

exactMatch

http://identifiers.org/snomedct/240059009

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

http://www.orpha.net/ORDO/Orphanet_97242

http://linkedlifedata.com/resource/umls/id/C0699743

has related synonym

congenital MD

id

MONDO:0019950