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loading...| Preferred Name |
galactokinase deficiency |
| Synonyms |
Galactosemia II |
| Definitions |
A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_14695 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
NCI:C114767 UMLS_CUI:C0268155 ICD10CM:E74.29 OMIM:230200 SNOMEDCT_US_2022_09_01:124302001 GARD:2422 MESH:D005693 |
| definition |
A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. |
| has exact synonym |
Galactosemia II |
| has_obo_namespace |
disease_ontology |
| id |
DOID:14695 |
| in_subset | |
| label |
galactokinase deficiency |
| notation |
DOID:14695 |
| prefLabel |
galactokinase deficiency |
| subClassOf |
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