encyclopedia of medical concepts
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Albinism
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Definition
: 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.
hypopigmentation of skin, hair, eye; GEN or unspecified; prefer specifics; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
See Also
Chediak-Higashi Syndrome
Examples
Albinism, Ocular
;
Albinism, Oculocutaneous
Substance
CAS Registry & name
Categories
Source
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
0
*Albinism
*Hemorrhagic Disorders
*Hermanski-Pudlak Syndrome.
Microcephaly albinism digital anomalies syndrome
0
*Abnormalities, Multiple
*Albinism
*Microcephaly
Fingers/abnormalities.
Albinism deafness syndrome
0
*Albinism
*Deafness.