ornithine carbamoyltransferase deficiency
Information
- Disease name
- ornithine carbamoyltransferase deficiency
- Disease ID
- DOID:9271
- Description
- "An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase." [url:http\://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01599286 | Completed | Phase 2 | Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia | September 1, 2012 | April 30, 2020 |
| NCT01421888 | Terminated | The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity | August 8, 2011 | April 17, 2013 |
- Disase is a (Disease Ontology)
- DOID:9267
- Cross Reference ID (Disease Ontology)
- GARD:8391
- Cross Reference ID (Disease Ontology)
- ICD10CM:E72.4
- Cross Reference ID (Disease Ontology)
- MESH:D020163
- Cross Reference ID (Disease Ontology)
- MIM:311250
- Cross Reference ID (Disease Ontology)
- NCI:C84957
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:80908008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268542
- Exact Synonym (Disease Ontology)
- deficiency of citrulline phosphorylase
- Exact Synonym (Disease Ontology)
- ornithine transcarbamylase deficiency