Bardet-biedl syndrome 15

Preferred Label : Bardet-biedl syndrome 15;

Symbol : BBS15;

CISMeF acronym : BBS15;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing planar cell polarity effector gene (WDPCP, 613580.0001);

Prefixed ID : #615992;

Details

Origin ID

615992;

UMLS CUI

C3150127;

Automatic exact mappings (from CISMeF team)
- Bardet-Biedl syndrome 15 [DO Concept]
- WD repeat containing planar cell polarity effector [ORDO Gene]
- WD repeat containing planar cell polarity effector [HGNC gene]
DO Cross reference
- Bardet-Biedl syndrome 15 [DO Concept]
Genes related to phenotype
- Wd repeat-containing planar cell polarity effector [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
ORDO concept(s)
- Bardet-Biedl syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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