phosphodiesterase 6B

Preferred Label : phosphodiesterase 6B;

Approved symbol HGNC : PDE6B;

Name synonyms HGNC : rod cGMP-specific 3'; 5'-cyclic phosphodiesterase subunit beta; autosomal dominant; congenital stationary night blindness 3;

Alias symbols HGNC : CSNBAD2; CSNB3; RP40; rd1;

Chromosome HGNC : 4p16.3;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000133256;

Détails

Origin ID

HGNC:8786;

UMLS CUI

C1418426;

Automatic exact mappings (from CISMeF team)
- Autosomal Dominant Inheritance [NCIt concept]
- Autosomal dominant inheritance [HPO term]
- Autosomal dominant inheritance (qualifier value) [SNOMED CT concept]
- Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a [OMIM Phenotype]
- Night blindness, congenital stationary, autosomal dominant 2 [OMIM Phenotype]
- Phosphodiesterase 6b [OMIM gene]
- Retinitis pigmentosa 40 [OMIM Phenotype]
- phosphodiesterase 6B [ORDO Gene]
OMIM gene
- Phosphodiesterase 6b [OMIM gene]
Orphanet gene
- phosphodiesterase 6B [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Phosphodiesterase 6b [OMIM gene]

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