qualitative or quantitative protein defects in neuromuscular diseases

Go to external page http://purl.obolibrary.org/obo/MONDO_0016139


This is just here as a test because I lose it

Term information

database cross reference
  • GARD:20388 (Orphanet:207049)
  • UMLS:CN200901 (MONDO:equivalentTo)
  • Orphanet:207049 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5114

exactMatch

http://linkedlifedata.com/resource/umls/id/CN200901

http://www.orpha.net/ORDO/Orphanet_207049

id

MONDO:0016139

Term relations