Terminology Service for NFDI4Health
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inborn glycerol kinase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0010613

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

Term info

Label

inborn glycerol kinase deficiency

Synonyms
  • 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
database cross reference
Subsets

disease_grouping, ordo_group_of_disorders

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 related synonym

GK deficiency, GKD, hyperglycerolemia, GK1 deficiency

id

MONDO:0010613

see also

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

Term relations