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Metadata
ID DOID:9870
Name galactosemia
Definition A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
http://en.wikipedia.org/wiki/Galactosemia
Xrefs

GARD:2424

ICD10CM:E74.21

ICD9CM:271.1

MESH:D005693

NCI:C84723

SNOMEDCT_US_2023_03_01:38177000

UMLS_CUI:C0016952

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

Galactosaemia [EXACT]

Galactose intolerance [EXACT]

Parent Relationships

is_a carbohydrate metabolic disorder

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