| umls-concept:C0001916 | skos:definition | MSH: General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.,CSP: general term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.,NCI: A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin.,CHV: inherited disease where in which there is a deficiency or absence of pigment in the eyes, skin, or hair.,CHV: inherited disease where in which there is a deficiency or absence of pigment in the eyes, skin, or hair.,CHV: inherited disease where in which there is a deficiency or absence of pigment in the eyes, skin, or hair.,NCI: A group of genetic conditions marked by little or none of the pigment melanin in the skin, hair, and/or eyes. People with albinism may have vision problems and white or yellow hair; reddish, violet, blue or brown eyes; and pale skin. | lld:umls |
