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isolated glycerol kinase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0018459

Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ). [ Orphanet:408 ]

Synonyms: hyperglycerolemia nonsyndromic glycerol kinase deficiency isolated inborn glycerol kinase deficiency nonsyndromic inborn glycerol kinase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:408 (MONDO:equivalentTo)
  • GARD:2807 (MONDO:GARD)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo-build/issues/49

exactMatch

http://www.orpha.net/ORDO/Orphanet_408

id

MONDO:0018459

Term relations