oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
MONDO:0018135
oculocutaneous albinism type 1
is_a
MONDO:0040653
autosomal recessive ocular albinism
is_a
OCA1A
exact
TYR oculocutaneous albinism
exact
Tyr oculocutaneous albinism
exact
albinism, oculocutaneous, type IA
related
oculocutaneous albinism caused by mutation in TYR
exact
oculocutaneous albinism caused by mutation in Tyr
exact
oculocutaneous albinism, tyrosinase-negative
exact
tyrosinase-negative oculocutaneous albinism
exact