Albinism, Oculocutaneous [albinismus generalizovaný]

topical
7
Terms

albinismus okulokutánní
albinismus tyrosináza-negativní
albinismus tyrosináza-pozitivní
albinismus tyrozináza-negativní
albinismus tyrozináza-pozitivní
xantoalbinismus
žlutý albinismus

 

Albinism, Tyrosinase-Negative
Albinism, Tyrosinase-Positive
Albinism, Yellow-Mutant
Oculocutaneous Albinism
Yellow Mutant Albinism

Persistent link   https://www.medvik.cz/link/D016115
Definition

Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.

DUI
D016115 MeSH Browser
CUI
M0024616
Previous indexing
Albinism (1966-1990)
History note
91
Public note
91

C Diseases
C11 Eye Diseases 1 489
C11.270.040 Albinism 17
C11.270.040.090 Albinism, Ocular 4
C11.270.040.545 Albinism, Oculocutaneous 7
C11.270.040.545.400 Hermanski-Pudlak Syndrome 7
C11.270.040.772 Chediak-Higashi Syndrome 4
C16.320.290.040 Albinism 17
C16.320.290.040.090 Albinism, Ocular 4
C16.320.290.040.100 Albinism, Oculocutaneous 7
C16.320.290.040.100.400 Hermanski-Pudlak Syndrome 7
C16.320.290.040.600 Piebaldism 1
C16.320.565.100.102 Albinism 17
C16.320.565.100.102.090 Albinism, Ocular 4
C16.320.565.100.102.100 Albinism, Oculocutaneous 7
C16.320.565.100.102.100.400 Hermanski-Pudlak Syndrome 7
C16.320.565.100.102.600 Piebaldism 1
C16.320.850.080 Albinism 17
C16.320.850.080.090 Albinism, Ocular 4
C16.320.850.080.100 Albinism, Oculocutaneous 7
C16.320.850.080.100.400 Hermanski-Pudlak Syndrome 7
C16.320.850.080.600 Piebaldism 1
C17.800 Skin Diseases 2 799
C17.800.621 Pigmentation Disorders 132
C17.800.621.440 Hypopigmentation 14
C17.800.621.440.102 Albinism 17
C17.800.621.440.102.090 Albinism, Ocular 4
C17.800.621.440.102.100 Albinism, Oculocutaneous 7
C17.800.621.440.102.100.400 Hermanski-Pudlak Syndrome 7
C17.800.621.440.102.600 Piebaldism 1
C17.800.827.080 Albinism 17
C17.800.827.080.090 Albinism, Ocular 4
C17.800.827.080.100 Albinism, Oculocutaneous 7
C17.800.827.080.100.400 Hermanski-Pudlak Syndrome 7
C17.800.827.080.600 Piebaldism 1
C18.452 Metabolic Diseases 1 196
C18.452.648.100.102 Albinism 17
C18.452.648.100.102.090 Albinism, Ocular 4
C18.452.648.100.102.100 Albinism, Oculocutaneous 7
C18.452.648.100.102.100.400 Hermanski-Pudlak Syndrome 7
C18.452.648.100.102.600 Piebaldism 1

Albinism, Oculocutaneous, Type I, Temperature-Sensitive Disease MeSH Browser

Brown Oculocutaneous Albinism Disease MeSH Browser

Deafness, Congenital, with Total Albinism Disease MeSH Browser

Dilution, Pigmentary Disease MeSH Browser

Oculocutaneous Albinism, Type IV Disease MeSH Browser

Oculocutaneous albinism type 1 Disease MeSH Browser

Oculocutaneous albinism type 1B Disease MeSH Browser

Oculocutaneous albinism type 2 Disease MeSH Browser

Rufous oculocutaneous albinism Disease MeSH Browser

Tietz syndrome Disease MeSH Browser