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Computer Retrieval of Information on Scientific Projects Thesaurus
Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/4001-0049
http://purl.bioontology.org/ontology/CSP/4001-0049
|
|---|---|
| Preferred Name | enzyme deficiency |
| Definitions |
abnormal and/or pathologic state usually due to mutations in structural genes for enzyme polypeptides, manifesting as metabolic abnormalities.
|
| Synonyms |
mucopolysaccharidosis type VII
cystathioninuria
homoserine deaminase deficiency
cystathionase deficiency
N acetyl glutamate synthethase deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | abnormal and/or pathologic state usually due to mutations in structural genes for enzyme polypeptides, manifesting as metabolic abnormalities. |
|---|---|
| altLabel |
mucopolysaccharidosis type VII
cystathioninuria
homoserine deaminase deficiency
cystathionase deficiency
N acetyl glutamate synthethase deficiency
|
| prefLabel | enzyme deficiency
|
| type | |
| tui |
T046
T047
|
| Inverse of RN |
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| notation | 4001-0049
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| Semantic type UMLS property | |
| DID | 4001-0049
|
| cui |
C0149676
C0268616
C0220993
C0085132
C0598385
C3495552
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|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |