loading...| Preferred Name | galactosemia | |
| Synonyms |
Galactosaemia Galactose intolerance |
|
| Definitions |
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. OMIM mapping by NeuroDevNet. [LS]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_9870 |
|
| comment |
OMIM mapping by NeuroDevNet. [LS]. |
|
| alternative label |
Galactosaemia Galactose intolerance |
|
| database_cross_reference |
ICD9CM:271.1 ICD10CM:E74.21 UMLS_CUI:C0016952 MESH:D005693 SNOMEDCT_US_2023_03_01:38177000 GARD:2424 NCI:C84723 |
|
| definition |
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. OMIM mapping by NeuroDevNet. [LS]. |
|
| has exact synonym |
Galactosaemia Galactose intolerance |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:9870 |
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
galactosemia |
|
| notation |
DOID:9870 |
|
| note |
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. OMIM mapping by NeuroDevNet. [LS]. |
|
| preferred label |
galactosemia |
|
| prefLabel |
galactosemia |
|
| subClassOf |