JSON

glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

^ http://purl.obolibrary.org/obo/MONDO_0017698

Term info

database cross reference
  • Orphanet:308670 (MONDO:equivalentTo)
  • UMLS:C1856304 (Orphanet:308670)
Subsets

ordo_clinical_subtype

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985, https://github.com/monarch-initiative/mondo/issues/4069

exactMatch

http://purl.obolibrary.org/obo/Orphanet_308670, http://linkedlifedata.com/resource/umls/id/C1856304

has exact synonym

GBE deficiency, congenital neuromuscular form, glycogen storage disease type 4, congenital neuromuscular form, glycogen storage disease type IV, congenital neuromuscular form, glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form, GSDIV, congenital neuromuscular form, GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form, glycogenosis type 4, congenital neuromuscular form, glycogenosis type IV, congenital neuromuscular form, GSD type 4, congenital neuromuscular form

id

MONDO:0017698