| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. (Human Disease Ontology, DOID_9271) |
| External Link | http://www.omim.org/entry/311250 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| OTC | ornithine carbamoyltransferase |
