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DO Term : glycerol kinase deficiency [DOID:0060363] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 307030,
  • SNOMEDCT_US_2023_03_01:297256008,
  • UMLS_CUI:C0574108,
  • ORDO:408,
  • OMIM:307030
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents