FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

galactose epimerase deficiency

Synonyms
Definitions

A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALE on chromosome 1p36.11.

ID

http://purl.obolibrary.org/obo/DOID_0111458

definition

A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALE on chromosome 1p36.11.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

galactose epimerase deficiency

prefixIRI

DOID:0111458

prefLabel

galactose epimerase deficiency

subClassOf

http://purl.obolibrary.org/obo/DOID_9870

http://purl.obolibrary.org/obo/DOID_0050737

Delete Subject Author Type Created
No notes to display