Bardet-biedl syndrome 14

Preferred Label : Bardet-biedl syndrome 14;

Symbol : BBS14;

CISMeF acronym : BBS14;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 290-kD centrosomal protein (CEP290, 610142.0013);

Prefixed ID : #615991;

Details

Origin ID

615991;

UMLS CUI

C2673874;

Automatic exact mappings (from CISMeF team)
- Bardet-Biedl syndrome 14 [DO Concept]
- Bardet-Biedl syndrome 14 [MeSH concept]
- Bardet-Biedl syndrome 14 [MeSH Supplementary Concept]
- centrosomal protein 290 [ORDO Gene]
- centrosomal protein 290 [HGNC gene]
DO Cross reference
- Bardet-Biedl syndrome 14 [DO Concept]
Genes related to phenotype
- Centrosomal protein, 290-kd [OMIM gene]
- Transmembrane protein 67 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Obesity [HPO term]
- Rod-cone dystrophy [HPO term]
ORDO concept(s)
- Bardet-Biedl syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bardet-Biedl syndrome 14 [DO Concept]
- Bardet-Biedl syndrome 14 [MeSH concept]
- Bardet-Biedl syndrome 14 [MeSH Supplementary Concept]

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