| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves. (Orphanet Rare Disease Ontology, Orphanet_79431) |
| External Link | http://www.omim.org/entry/203100 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Tyrosinase-negative oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| TYR | tyrosinase |
