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Experimental Factor Ontology
Last uploaded:
January 16, 2025
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Id | http://purl.obolibrary.org/obo/MONDO_0018116
http://purl.obolibrary.org/obo/MONDO_0018116
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Preferred Name | galactosemia |
Definitions |
Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.
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Synonyms |
galactose intolerance
galactosaemia
galactosemia
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. |
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preferred label |
galactosemia
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label |
galactosemia
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prefLabel |
galactosemia
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exactMatch |
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database_cross_reference |
NCIT:C84723
UMLS:C0016952
SCTID:190745006
SCTID:190749000
MEDGEN:8943
MedDRA:10017604
Orphanet:352
MESH:D005693
OMIMPS:230400
DOID:9870
GARD:2424
ICD9:271.1
NORD:1170
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notation |
MONDO:0018116
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in_subset |
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id |
MONDO:0018116
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excluded_subClassOf | |
subClassOf | |
closeMatch | |
type | |
has_exact_synonym |
galactose intolerance
galactosaemia
galactosemia
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curated_content_resource |
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