OCA5 Gene - CISMeF

Preferred Label : OCA5 Gene;

NCIt synonyms : Albinism, Oculocutaneous, Type VII Gene; OCA7; Oculocutaneous Albinism 5 (Autosomal Recessive) Gene;

NCIt related terms : OCA5;

NCIt definition : Human OCA5 gene is located within 4q24 and the size of this phenotypic locus is not reported. This gene region has no known protein product. Autosomal recessive mutation of the gene is associated with oculocutaneous albinism 5.;

NCI Metathesaurus CUI : CL1663120;

Détails

Origin ID

C177112;

UMLS CUI

C5443879;

Automatic exact mappings (from CISMeF team)
- Albinism, oculocutaneous, type VII [OMIM Phenotype]
- Oculocutaneous albinism type 5 [ORDO Disease]
- Oculocutaneous albinism type 7 [ORDO Disease]
- leucine rich melanocyte differentiation associated [ORDO Gene]
- oculocutaneous albinism type VII [DO Concept]
HGNC gene
- oculocutaneous albinism 5 (autosomal recessive) [HGNC gene]
OMIM relation
- Albinism, oculocutaneous, type V [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
genetic_biomarker_related_to
- Oculocutaneous Albinism [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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