glycerol kinase deficiency, juvenile form

Go to external page http://purl.obolibrary.org/obo/MONDO_0017295


Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness. [ Orphanet:284411 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:1842281 (MONDO:equivalentTo)
  • Orphanet:284411 (MONDO:equivalentTo)
  • UMLS:C5681029 (MONDO:equivalentTo)
  • GARD:17316 (MONDO:GARD)
Subsets

gard_rare, otar, ordo_subtype_of_a_disorder, rare, nord_rare

IAO 0000233

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C5681029

http://www.orpha.net/ORDO/Orphanet_284411

http://identifiers.org/medgen/1842281

id

MONDO:0017295