Search Ontology:
Human Disease
ornithine carbamoyltransferase deficiency
- Term ID
- DOID:9271
- Synonyms
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- deficiency of citrulline phosphorylase
- ornithine transcarbamylase deficiency
- Definition
- An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. http://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency
- References
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- GARD:8391
- ICD10CM:E72.4
- MESH:D020163
- MIM:311250
- NCI:C84957
- SNOMEDCT_US_2023_03_01:80908008
- UMLS_CUI:C0268542
- Ontology
- Human Disease ( DOID:9271 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models