loading...| Preferred Name |
galactosemia |
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| Synonyms |
|
|
| Definitions |
OMIM mapping by NeuroDevNet. [LS]. A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. |
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| ID |
http://purl.obolibrary.org/obo/DOID_9870 |
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| comment |
OMIM mapping by NeuroDevNet. [LS]. |
|
| definition |
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. |
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| hasDbXref |
SNOMEDCT_US_2016_03_01:190747003 SNOMEDCT_US_2016_03_01:154738008 ICD9CM:271.1 SNOMEDCT_US_2016_03_01:190749000 SNOMEDCT_US_2016_03_01:38177000 MESH:D005693 ICD10CM:E74.21 OMIM:230350 UMLS_CUI:C0016952 SNOMEDCT_US_2016_03_01:190745006 NCI:C84723 SNOMEDCT_US_2016_03_01:267498002 OMIM:230400 |
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| hasExactSynonym |
Galactosaemia Galactose intolerance |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:9870 |
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| imported from | ||
| inSubset | ||
| label |
galactosemia |
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| prefixIRI |
DOID:9870 |
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| prefLabel |
galactosemia |
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| subClassOf |
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