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inborn glycerol kinase deficiency

Go to external page 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 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:308993 (MONDO:equivalentTo)
  • SCTID:124322002 (MONDO:equivalentTo)
  • OMIM:307030 (MONDO:equivalentTo)
  • DOID:0060363 (MONDO:equivalentTo)
  • GARD:21311 (Orphanet:308993)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, clingen, ordo_group_of_disorders

IAO 0000233

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

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

exactMatch

http://identifiers.org/snomedct/124322002

http://www.orpha.net/ORDO/Orphanet_308993

https://omim.org/entry/307030

http://purl.obolibrary.org/obo/DOID_0060363

has related synonym

GK deficiency

GKD

hyperglycerolemia

GK1 deficiency

id

MONDO:0010613

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010613

Term relations