Preferred Name |
galactose epimerase deficiency |
|
Synonyms |
UDP-galactose-4-epimerase deficiency |
|
Definitions |
A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALE gene on chromosome 1p36.11. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0111458 |
|
database_cross_reference |
OMIM:230350 MESH:D005693 SNOMEDCT_US_2023_03_01:8849004 UMLS_CUI:C0751161 GARD:5392 ORDO:79238 |
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has exact synonym |
UDP-galactose-4-epimerase deficiency galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency epimerase deficiency galactosemia GALE deficiency galactosemia III GALE-D |
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has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0111458 |
|
in_subset | ||
label |
galactose epimerase deficiency |
|
notation |
DOID:0111458 |
|
prefLabel |
galactose epimerase deficiency |
|
textual definition |
A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALE gene on chromosome 1p36.11. |
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subClassOf |
Create mapping