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]. |
|
alternative label |
Galactosemia II |
|
database_cross_reference |
UMLS_CUI:C0268155 SNOMEDCT_US_2023_03_01:124302001 NCI:C114767 MESH:D005693 ICD10CM:E74.29 OMIM:230200 GARD:2422 |
|
definition |
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]. |
|
has exact synonym |
Galactosemia II |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:14695 |
|
in_subset | ||
label |
galactokinase deficiency |
|
notation |
DOID:14695 |
|
note |
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]. |
|
preferred label |
galactokinase deficiency |
|
prefLabel |
galactokinase deficiency |
|
subClassOf |