JSON

distal myopathy

^ http://purl.obolibrary.org/obo/MONDO_0018949

Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands. [ Orphanet:599 ]

Term info

database cross reference
  • DOID:11720 (MONDO:equivalentTo)
  • SCTID:58795000 (MONDO:equivalentTo)
  • NCIT:C84675 (MONDO:equivalentTo)
  • UMLS:C0751336 (Orphanet:599)
  • OMIMPS:160500 (MONDO:equivalentTo)
  • Orphanet:599 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

IAO 0000233

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

definition

Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_599, http://identifiers.org/snomedct/58795000, http://linkedlifedata.com/resource/umls/id/C0751336, http://purl.obolibrary.org/obo/DOID_11720, http://purl.obolibrary.org/obo/NCIT_C84675, https://omim.org/phenotypicSeries/PS160500

has exact synonym

distal muscular dystrophy, distal myopathy

has narrow synonym

Miyoshi muscular dystrophy

id

MONDO:0018949

Term relations

Subclass of: