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Drug Target Ontology
Last uploaded:
February 15, 2018
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Id | http://purl.obolibrary.org/obo/DOID_9870
http://purl.obolibrary.org/obo/DOID_9870
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Preferred Name | galactosemia |
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].
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
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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label |
galactosemia
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comment |
OMIM mapping by NeuroDevNet. [LS].
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prefLabel |
galactosemia
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hasOBONamespace |
disease_ontology
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hasExactSynonym |
Galactosaemia
Galactose intolerance
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prefixIRI |
DOID:9870
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inSubset | |
subClassOf | |
imported from | |
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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type | |
id |
DOID:9870
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