| Metadata | |
|---|---|
| ID | DOID:0070095 |
| Name | oculocutaneous albinism type IB |
| Definition | An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. https://www.ncbi.nlm.nih.gov/pubmed/18925668 |
| Xrefs | |
| Synonyms |
Albinism, Yellow Mutant Type [EXACT] OCA1B [EXACT] |
| Parent Relationships |
is_a digenic disease |
| Subclass Logical Relationships |
has material basis in some digenic inheritance |