Bardet-biedl syndrome 11

Preferred Label : Bardet-biedl syndrome 11;

Symbol : BBS11;

CISMeF acronym : BBS11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tripartite motif-containing protein 32 gene (TRIM32, 602290.0002);

Prefixed ID : #615988;

Details

Origin ID

615988;

UMLS CUI

C1859569;

Automatic exact mappings (from CISMeF team)
- Bardet-Biedl syndrome 11 [DO Concept]
- Bardet-Biedl syndrome 11 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 11 [MeSH concept]
- tripartite motif containing 32 [ORDO Gene]
- tripartite motif containing 32 [HGNC gene]
DO Cross reference
- Bardet-Biedl syndrome 11 [DO Concept]
Genes related to phenotype
- Tripartite motif-containing protein 32 [OMIM gene]
HPO term(s)
- Abnormality of the kidney [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypogonadism [HPO term]
- Obesity [HPO term]
- Polydactyly [HPO term]
- Retinopathy [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 11 [DO Concept]
- Bardet-Biedl syndrome 11 [MeSH concept]
- Bardet-Biedl syndrome 11 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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