OBO ID: DOID:0070095
Term Name: oculocutaneous albinism type IB Search Ontology:
Synonyms:
  • Albinism, Yellow Mutant Type
  • OCA1B
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)
Relationships
is a type of:
OTHER oculocutaneous albinism type IB PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TYR Albinism, oculocutaneous, type IB 606952
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None