OBO ID: DOID:0070096
Term Name: oculocutaneous albinism type II Search Ontology:
Synonyms:
  • OCA2
  • Oculocutaneous Albinism, Tyrosinase-Positive
Definition: An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. https://www.ncbi.nlm.nih.gov/pubmed/18680187
References:
Ontology: Human Disease   ( DOID:0070096 )
OTHER oculocutaneous albinism type II PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MC1R {Albinism, oculocutaneous, type II, modifier of} 203200
OCA2 Albinism, brown oculocutaneous 203200
Albinism, oculocutaneous, type II 203200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None