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Что (кто) такое tyrosinase-negative oculocutaneous albinism - определение
AUTOSOMAL RECESSIVE DISEASE CHARACTERIZED BY ABNORMAL PIGMENTATION OF THE SKIN, HAIR AND EYES
Oculocutaneous Albinism; Albinism, oculocutaneous; Oculocutaneous albinism - Hermansky-Pudlak; Oculocutaneous albinism - Chediak-Higashi; Oculocutaneous albinism - tyrosinase-negative (type 1); Oculocutaneous albinism type 4; Oculocutaneous albinism type 1a; Oculocutaneous albinism type 1b
Oculocutaneousalbinism type I
MEDICAL CONDITION
Oculocutaneous albinism type 1; OCA1
Oculocutaneousalbinism type I or type 1A is an autosomal recessive skin disease. This subtype of oculocutaneousalbinism is caused when the gene for tyrosinase (symbol TYR or OCA1) does not function properly.
CONGENITAL DISORDER CAUSING SKIN TO LACK PIGMENTATION
Albino; Albinos; Oculocutaneous albinism, tyrosinase positive; The Albino; Ocular Albinism; Oculocutaneous albinism type 2; Oculocutaneous albinism type 3; Albinism, ocular; Albinic; Albinoid; Albinoidism; Forsius-Eriksson ocular albinism; Hypomelanism; Hypomelanosis; Albinoids; Albinistic; Albinistics; Person with albinism; Albino person; Albino humans; Albino animal; Albino animals; Human albinism; Human with albinism; Humans with albinism; Animal with albinism; Animals with albinism; Albinistic people; Albinistic person; Albinistic persons; Albinistic human; Albinistic humans; Albinistic animal; Albinistic animals; Human albino; Albinoes; Human albinos; Human hypomelanism; Human hypomelanosis; Hypomelanics; Hypomelanoid; Hypomelanoids; Hypomelanistic; Hypomelanic; Albinoism; Achromasia; Achromatosis; Albino (color); Hypomelanotic disorder; Achromasias; Hypomelanist; Hypomelanoses; Amelanist; Amelanists; Amelanotic; Amelanoid; Achromia; Albanism; Partial albinism; Albino lion; Albino lions; Albinism on white animals; Albinism in animals; Albinism in plants; Plant albinism; Animal albinism; Albino plant; Albino plants; Zoological albinism; Botanical albinism; White alligator; User:Ashleybrian001/sandbox; Draft:White Alligators; White Alligators; Albinism in biology; Albinism (biology); Albinism in nature; Albinism (genetics)
·noun A person, whether negro, Indian, or white, in whom by some defect of organization the substance which gives color to the skin, hair, and eyes is deficient or in a morbid state. An albino has a skin of a milky hue, with hair of the same color, and eyes with deep red pupil and pink or blue iris. The term is also used of the lower animals, as white mice, elephants, ·etc.; and of plants in a whitish condition from the absence of chlorophyll.
Albinoism
CONGENITAL DISORDER CAUSING SKIN TO LACK PIGMENTATION
Albino; Albinos; Oculocutaneous albinism, tyrosinase positive; The Albino; Ocular Albinism; Oculocutaneous albinism type 2; Oculocutaneous albinism type 3; Albinism, ocular; Albinic; Albinoid; Albinoidism; Forsius-Eriksson ocular albinism; Hypomelanism; Hypomelanosis; Albinoids; Albinistic; Albinistics; Person with albinism; Albino person; Albino humans; Albino animal; Albino animals; Human albinism; Human with albinism; Humans with albinism; Animal with albinism; Animals with albinism; Albinistic people; Albinistic person; Albinistic persons; Albinistic human; Albinistic humans; Albinistic animal; Albinistic animals; Human albino; Albinoes; Human albinos; Human hypomelanism; Human hypomelanosis; Hypomelanics; Hypomelanoid; Hypomelanoids; Hypomelanistic; Hypomelanic; Albinoism; Achromasia; Achromatosis; Albino (color); Hypomelanotic disorder; Achromasias; Hypomelanist; Hypomelanoses; Amelanist; Amelanists; Amelanotic; Amelanoid; Achromia; Albanism; Partial albinism; Albino lion; Albino lions; Albinism on white animals; Albinism in animals; Albinism in plants; Plant albinism; Animal albinism; Albino plant; Albino plants; Zoological albinism; Botanical albinism; White alligator; User:Ashleybrian001/sandbox; Draft:White Alligators; White Alligators; Albinism in biology; Albinism (biology); Albinism in nature; Albinism (genetics)
·noun The state or condition of being an albino; albinism.
Википедия
Oculocutaneous albinism
Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair.
Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes.
Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders.: 864 Oculocutaneous albinism is also found in non-human animals.