leucine rich melanocyte differentiation associated

Preferred Label : leucine rich melanocyte differentiation associated;

Approved symbol HGNC : LRMDA;

Name synonyms HGNC : oculocutaneous albinism 7; autosomal recessive;

Alias symbols HGNC : CDA017; OCA7;

Chromosome HGNC : 10q22.2-q22.3;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000148655;

Détails

Origin ID

HGNC:23405;

UMLS CUI

C1428073;

Automatic exact mappings (from CISMeF team)
- Albinism, oculocutaneous, type VII [OMIM Phenotype]
- Autosomal Recessive Inheritance [NCIt concept]
- Autosomal recessive inheritance [HPO term]
- Autosomal recessive inheritance (qualifier value) [SNOMED CT concept]
- Leucine-rich melanocyte differentiation-associated protein [OMIM gene]
- leucine rich melanocyte differentiation associated [ORDO Gene]
OMIM gene
- Leucine-rich melanocyte differentiation-associated protein [OMIM gene]
Orphanet gene
- leucine rich melanocyte differentiation associated [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Leucine-rich melanocyte differentiation-associated protein [OMIM gene]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients