OBO ID: DOID:0070095 |
Term Name: | oculocutaneous albinism type IB | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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 | ||
References: | |||
Ontology: | Human Disease ( DOID:0070095 ) |
OTHER oculocutaneous albinism type IB PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.