Albinism, Oculocutaneous
| Definition: |
Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types. |
| Also Called: |
Albinism, Tyrosinase-Negative,Albinism, Tyrosinase-Positive,Albinism, Yellow-Mutant |
| Previously Indexed: |
Albinism (1966-1990) |
Albinism, Oculocutaneous Categories.
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Hermanski-Pudlak Syndrome - Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin. |
Albinism, Oculocutaneous Definitions and Terms
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