JSON

congenital structural myopathy

^ http://purl.obolibrary.org/obo/MONDO_0002921

A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills. [ NCIT:P378 ]

Term info

database cross reference
  • DOID:422 (MONDO:equivalentTo)
  • NCIT:C84648 (MONDO:equivalentTo)
  • MESH:D020914 (MONDO:equivalentTo)
  • UMLS:C0752282 (NCIT:C84648)
IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5656

definition

A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.

exactMatch

http://identifiers.org/mesh/D020914, http://purl.obolibrary.org/obo/NCIT_C84648, http://purl.obolibrary.org/obo/DOID_422, http://linkedlifedata.com/resource/umls/id/C0752282

has related synonym

centronuclear myopathy

id

MONDO:0002921

Term relations

Subclass of: