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- Bc4d44a1d4623b9671ce80629432f34fd NCIT_P378 "NCI" @default.
- Bc4d44a1d4623b9671ce80629432f34fd type Axiom @default.
- Bc4d44a1d4623b9671ce80629432f34fd annotatedProperty IAO_0000115 @default.
- Bc4d44a1d4623b9671ce80629432f34fd annotatedSource NCIT_C84941 @default.
- Bc4d44a1d4623b9671ce80629432f34fd annotatedTarget "An autosomal recessive inherited disorder caused by mutations of the OCA2, SLC45A2, TYR and TYRP1 genes. It is characterized by hypopigmentation of the skin, hair, and eyes, resulting in very fair skin, white colored hair, and reduced pigmentation in the iris and retina. Individuals may have vision disturbances and photophobia." @default.