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Kidney Tissue Atlas Ontology
Last uploaded:
March 16, 2024
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| Id | http://purl.obolibrary.org/obo/MONDO_0018116
http://purl.obolibrary.org/obo/MONDO_0018116
|
|---|---|
| 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 |
galactosemia
galactosaemia
galactose intolerance
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
galactosemia
|
|---|---|
| prefLabel |
galactosemia
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| exactMatch |
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| database_cross_reference |
MedDRA:10017604
ICD10:E74.2
NCIT:C84723
GARD:0002424
COHD:439788
MESH:D005693
ICD10:E74.21
ICD9:271.1
DOID:9870
OMIMPS:230400
UMLS:C0016952
SCTID:190745006
Orphanet:352
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| notation |
MONDO:0018116
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| in_subset | |
| id |
MONDO:0018116
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| should_conform_to | |
| textual 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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| subClassOf | |
| imported from | |
| closeMatch | |
| type | |
| has exact synonym |
galactosemia
galactosaemia
galactose intolerance
|
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