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 |