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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-9662
http://purl.bioontology.org/ontology/CSP/1849-9662
|
|---|---|
| Preferred Name | ornithine carbamoyl phosphate deficiency |
| Definitions |
inherited urea cycle disorder associated with deficiency of the enzyme ornithine carbamoyltransferase, transmitted as a sex-linked trait and featuring elevations of amino acids and ammonia in the serum.
|
| Synonyms |
congenital hyperammonemia type II
ornithine transcarbamylase deficiency
ornithine carbamoyltransferase deficiency
OCP deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | inherited urea cycle disorder associated with deficiency of the enzyme ornithine carbamoyltransferase, transmitted as a sex-linked trait and featuring elevations of amino acids and ammonia in the serum. |
|---|---|
| altLabel |
congenital hyperammonemia type II
ornithine transcarbamylase deficiency
ornithine carbamoyltransferase deficiency
OCP deficiency
|
| prefLabel | ornithine carbamoyl phosphate deficiency
|
| Inverse of RO | |
| type | |
| tui |
T047
T019
|
| notation | 1849-9662
|
| Semantic type UMLS property | |
| DID | 1849-9662
|
| cui |
C0268542
C0597143
C0543537
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |