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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-3608
http://purl.bioontology.org/ontology/CSP/1849-3608
|
|---|---|
| Preferred Name | galactosemia |
| Definitions |
group of inherited enzyme deficiencies which feature elevations of galactose in the blood; this condition may be associated with deficiencies of galactokinase, UDP glucose-hexose-1-phosphate uridylyltransferase (classic form), or UDP glucose 4-epimerase; the classic form presents in infancy with failure to thrive, vomiting, and intracranial hypertension; affected individuals also may develop mental retardation, jaundice, hepatosplenomegaly, ovarian failure and cataracts.
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| Synonyms |
galactose 1 phosphate uridylyl transferase deficiency
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | group of inherited enzyme deficiencies which feature elevations of galactose in the blood; this condition may be associated with deficiencies of galactokinase, UDP glucose-hexose-1-phosphate uridylyltransferase (classic form), or UDP glucose 4-epimerase; the classic form presents in infancy with failure to thrive, vomiting, and intracranial hypertension; affected individuals also may develop mental retardation, jaundice, hepatosplenomegaly, ovarian failure and cataracts. |
|---|---|
| altLabel | galactose 1 phosphate uridylyl transferase deficiency
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| prefLabel | galactosemia
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| type | |
| tui | T047
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| notation | 1849-3608
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| Semantic type UMLS property | |
| DID | 1849-3608
|
| cui |
C0268151
C0016952
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| Inverse of RB | |
| subClassOf |
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