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loading...| Preferred Name |
galactosemia |
| Synonyms |
Galactosaemia |
| 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]. |
| database_cross_reference |
UMLS_CUI:C0016952 SNOMEDCT_US_2020_03_01:38177000 ICD10CM:E74.21 NCI:C84723 GARD:2424 MESH:D005693 ICD9CM:271.1 |
| has exact synonym |
Galactosaemia Galactose intolerance |
| id |
DOID:9870 |
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
| label |
galactosemia |
| notation |
DOID:9870 |
| prefLabel |
galactosemia |
| textual definition |
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |
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