| Metadata | |
|---|---|
| ID | DOID:0070094 |
| Name | oculocutaneous albinism type IA |
| Definition | An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. https://www.ncbi.nlm.nih.gov/pubmed/8477259 |
| Xrefs | |
| Synonyms |
OCA1A [EXACT] Oculocutaneous Albinism, Tyrosinase-Negative [EXACT] |
| Parent Relationships |