"Albinism, Oculocutaneous" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D016115
|
| MeSH Number(s) |
C11.270.040.545 C16.320.290.040.100 C16.320.565.100.102.100 C16.320.850.080.100 C17.800.621.440.102.100 C17.800.827.080.100 C18.452.648.100.102.100
|
| Concept/Terms |
Albinism, Yellow-Mutant- Albinism, Yellow-Mutant
- Albinism, Yellow Mutant
- Yellow-Mutant Albinism
- Yellow Mutant Albinism
- Mutant Albinism, Yellow
- Mutant Albinisms, Yellow
|
Below are MeSH descriptors whose meaning is more general than "Albinism, Oculocutaneous".
- Diseases [C]
- Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]
- Albinism [C11.270.040]
- Albinism, Oculocutaneous [C11.270.040.545]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Eye Diseases, Hereditary [C16.320.290]
- Albinism [C16.320.290.040]
- Albinism, Oculocutaneous [C16.320.290.040.100]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Albinism [C16.320.565.100.102]
- Albinism, Oculocutaneous [C16.320.565.100.102.100]
- Skin Diseases, Genetic [C16.320.850]
- Albinism [C16.320.850.080]
- Albinism, Oculocutaneous [C16.320.850.080.100]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Pigmentation Disorders [C17.800.621]
- Hypopigmentation [C17.800.621.440]
- Albinism [C17.800.621.440.102]
- Albinism, Oculocutaneous [C17.800.621.440.102.100]
- Skin Diseases, Genetic [C17.800.827]
- Albinism [C17.800.827.080]
- Albinism, Oculocutaneous [C17.800.827.080.100]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Albinism [C18.452.648.100.102]
- Albinism, Oculocutaneous [C18.452.648.100.102.100]
Below are MeSH descriptors whose meaning is more specific than "Albinism, Oculocutaneous".
This graph shows the total number of publications written about "Albinism, Oculocutaneous" by people in this website by year, and whether "Albinism, Oculocutaneous" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2000 | 1 | 0 | 1 |
| 2001 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Albinism, Oculocutaneous" by people in Profiles.
-
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. Eur J Hum Genet. 2012 May; 20(5):584-7.
-
In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. Am J Hum Genet. 2001 Mar; 68(3):782-7.
-
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. Hum Mutat. 2000; 15(2):166-72.