temperature-sensitive oculocutaneous albinism type 1
Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).
MONDO:0018135
oculocutaneous albinism type 1
is_a
OCA1-TS
exact
TS OCA type 1
exact