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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Oculocutaneous Albinism Type I, Temperature-Sensitive +   
oculocutaneous albinism type II  
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. (DO)
oculocutaneous albinism type III  
oculocutaneous albinism type IV  
oculocutaneous albinism type V 
oculocutaneous albinism type VI +   
oculocutaneous albinism type VII  
Oculocutaneous Albinism Type VIII  

Synonyms
Exact Synonyms: Albinoidism ;   OCA2 ;   OCA2-RELATED CONDITION ;   albinism 2 ;   albinism II ;   oculocutaneous albinism type 2 ;   oculocutaneous albinism tyrosinase positive
Related Synonyms: ALBINISM, BROWN OCULOCUTANEOUS ;   ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF ;   BOCA ;   BROWN OCULOCUTANEOUS ALBINISM
Primary IDs: MESH:C537730
Alternate IDs: OMIA:002130 ;   OMIM:203200
Xrefs: GARD:4038
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/18680187 "DO" "DO"

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