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DO Term : classic galactosemia [DOID:0111459] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3.

synonyms:
galactose-1-phosphate uridyltransferase deficiency,
NCI:C99104,
ORDO:79239,
UMLS_CUI:C0268151,
MESH:D005693,
GALT deficiency,
GARD:13639,
SNOMEDCT_US_2023_03_01:398664009,
galactosemia type 1,
230400,
OMIM:230400

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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