| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | A histidine metabolism disease that involves a deficiency of the enzyme histidase. (Human Disease Ontology, DOID_0060168) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0002927 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the histidinuria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| AASS | aminoadipate-semialdehyde synthase |
