glycerol kinase deficiency

glycerol kinase deficiency

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

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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/22427807 http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007645 url:https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency ]

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This is just here as a test because I lose it

Term information

database cross reference

UMLS_CUI:C0574108
SNOMEDCT_US_2023_03_01:297256008
ORDO:408
MIM:307030

Subsets

DO_FlyBase_slim, DO_rare_slim

created by

elvira

creation date

2015-09-17T15:45:20Z

has obo namespace

disease_ontology

DOID:0060363

Term relations

Subclass of:

inherited metabolic disorder
disease has basis in some structural_variant