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loading...| Preferred Name |
galactose epimerase deficiency |
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| Synonyms |
UDP-galactose-4-epimerase deficiency |
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| Definitions |
A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111458 |
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| database_cross_reference |
MESH:D005693 SNOMEDCT_US_2023_03_01:8849004 UMLS_CUI:C0751161 GARD:5392 MIM:230350 ORDO:79238 |
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| definition |
A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11. |
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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 |
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| id |
DOID:0111458 |
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| in_subset | ||
| label |
galactose epimerase deficiency |
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| notation |
DOID:0111458 |
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| prefLabel |
galactose epimerase deficiency |
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| subClassOf |
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