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congenital muscular dystrophy

^ 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 ]

Term info

database cross reference
  • GARD:0009138 (MONDO:equivalentTo)
  • ICD9:359.0 (DOID:0050557)
  • UMLS:C0699743 (Orphanet:97242/e)
  • Orphanet:97242 (MONDO:equivalentTo)
  • EFO:0006819 (MONDO:equivalentTo)
  • DOID:0050557 (MONDO:equivalentTo)
  • SCTID:240059009 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
MDC [ Orphanet:97242 ]

abbreviation
CMD [ Orphanet:97242 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5658, https://github.com/monarch-initiative/mondo/issues/4069

definition

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.

exactMatch

http://identifiers.org/snomedct/240059009, http://purl.obolibrary.org/obo/DOID_0050557, http://purl.obolibrary.org/obo/Orphanet_97242, http://linkedlifedata.com/resource/umls/id/C0699743

has related synonym

congenital MD

id

MONDO:0019950