Bardet-Biedl syndrome 1

Preferred Label : Bardet-Biedl syndrome 1;

Approved symbol HGNC : BBS1;

Alias symbols HGNC : FLJ23590;

Chromosome HGNC : 11q13.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000174483;

Details

Origin ID

HGNC:966;

UMLS CUI

C1412746;

Automatic exact mappings (from CISMeF team)
- Bardet-Biedl syndrome 1 [ORDO Gene]
- Bardet-Biedl syndrome 1 [MeSH concept]
- Bardet-Biedl syndrome 1 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 1 [DO Concept]
- Bbs1 gene [OMIM gene]
OMIM gene
- Bbs1 gene [OMIM gene]
Orphanet gene
- Bardet-Biedl syndrome 1 [ORDO Gene]
See also inter- (CISMeF)
- Bardet-biedl syndrome 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BBS1 gene [LOINC component]
- Bbs1 gene [OMIM gene]

Keyword's position in hierarchy(ies) :

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