oculocutaneous albinism
Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.
MONDO:0006025
autosomal recessive disease
excluded_subClassOf
MONDO:0018134
disorder of melanin metabolism
is_a
MONDO:0019290
hypopigmentation of the skin
is_a
MONDO:0100118
hereditary skin disorder
is_a
OCA
exact
albinism, oculocutaneous
related
non-syndromic oculocutaneous albinism
exact
nonsyndromic oculocutaneous albinism
exact
SPAC2F3.08