Oculocutaneous Albinism

Preferred Label : Oculocutaneous Albinism;

NCIt definition : An autosomal recessive inherited disorder caused by mutations of the OCA2, SLC45A2, TYR and TYRP1 genes. It is characterized by hypopigmentation of the skin, hair, and eyes, resulting in very fair skin, white colored hair, and reduced pigmentation in the iris and retina. Individuals may have vision disturbances and photophobia.;

Details

Origin ID

C84941;

UMLS CUI

C0078918;

Currated CISMeF NLP mapping
- Oculocutaneous albinism [PASCAL descriptor]
- Oculocutaneous albinism [ICD-11 Sub-sub category]
- Oculocutaneous albinism [OMIM phenotypic series]
- Oculocutaneous albinism [ORDO Disease]
- Oculocutaneous albinism (disorder) [SNOMED CT concept]
- albinism, oculocutaneous [MeSH Descriptor]
- albinism, oculocutaneous [MeSH concept]
- albinismus totalis [Disease (Nov.)]
- oculocutaneous albinism [DO Concept]
- oculocutaneous albinism, nos [SNOMED Notion]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Oculocutaneous albinism [ORDO Disease]
- Oculocutaneous albinism [PASCAL descriptor]
- Oculocutaneous albinism (disorder) [SNOMED CT concept]
- albinism, oculocutaneous [MeSH concept]
- albinism, oculocutaneous [MeSH Descriptor]
- albinismus totalis [Disease (Nov.)]
- oculocutaneous albinism [DO Concept]
- oculocutaneous albinism, nos [SNOMED Notion]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- OCA2 Gene [NCIt concept]
- OCA5 Gene [NCIt concept]
- SLC24A5 Gene [NCIt concept]
- SLC45A2 Gene [NCIt concept]
- TYR Gene [NCIt concept]
- TYRP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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