JSON

inborn glycerol kinase deficiency

^ http://purl.obolibrary.org/obo/MONDO_0010613

An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity. [ MONDO:patterns/inborn_metabolic ]

Term info

database cross reference
  • Orphanet:308993 (MONDO:equivalentTo)
  • SCTID:124322002 (MONDO:equivalentTo)
  • DOID:0060363 (MONDO:equivalentTo)
  • OMIM:307030 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
GKD [ MONDO:Lexical OMIM:307030 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521, https://github.com/monarch-initiative/mondo/issues/5373

definition

An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.

exactMatch

http://identifiers.org/snomedct/124322002, https://omim.org/entry/307030, http://purl.obolibrary.org/obo/DOID_0060363, http://purl.obolibrary.org/obo/Orphanet_308993

has exact synonym

glycerol kinase deficiency, glycerol kinase deficiency, X-linked recessive, inborn error of glycerol kinase activity, inborn glycerol kinase activity disorder, rare inborn error of glycerol kinase activity

has related synonym

GK deficiency, GKD, hyperglycerolemia, GK1 deficiency

id

MONDO:0010613

Term relations