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DO Term : galactosemia [DOID:9870] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.

synonyms:
Galactose intolerance,
ICD10CM:E74.21,
GARD:2424,
MESH:D005693,
ICD9CM:271.1,
UMLS_CUI:C0016952,
NCI:C84723,
Galactosaemia,
SNOMEDCT_US_2023_03_01:38177000

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

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