OBO ID: DOID:0060363
Term Name: glycerol kinase deficiency Search Ontology:
Synonyms:
Definition: An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21. (2)
References:
  • OMIM:307030
  • ORDO:408
  • SNOMEDCT_US_2023_03_01:297256008
  • UMLS_CUI:C0574108
Ontology: Human Disease   ( DOID:0060363 )
Relationships
is a type of:
OTHER glycerol kinase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GK Glycerol kinase deficiency
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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