Oculocutaneous Albinism Type 1A

Preferred Label : Oculocutaneous Albinism Type 1A;

NCIt synonyms : OCA1A;

NCIt definition : Oculocutaneous albinism inherited in an autosomal recessive pattern, and caused by mutation(s) in the TYR gene, encoding tyrosinase.;

Details

Origin ID

C168731;

UMLS CUI

C4551504;

Automatic exact mappings (from CISMeF team)
- tyrosinase [ORDO Gene]
Currated CISMeF NLP mapping
- Albinism, oculocutaneous, type ia [OMIM Phenotype]
- Oculocutaneous albinism type 1A [ICD-11 More detail]
- Oculocutaneous albinism type 1A [ORDO Disease]
- Tyrosinase-negative oculocutaneous albinism (disorder) [SNOMED CT concept]
- oculocutaneous albinism type IA [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism, oculocutaneous, type ia [OMIM Phenotype]
- Tyrosinase-negative oculocutaneous albinism (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Oculocutaneous albinism type 1 [MeSH concept]
- oculocutaneous albinism type 1 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TYR Gene [NCIt concept]
related_to_genetic_biomarker
- TYR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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