Bardet-biedl syndrome 12

Preferred Label : Bardet-biedl syndrome 12;

Symbol : BBS12;

CISMeF acronym : BBS12;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the BBS12 gene (BBS12, 610683.0001);

Prefixed ID : #615989;

Details

Origin ID

615989;

UMLS CUI

C1859570;

Automatic exact mappings (from CISMeF team)
- Bardet-Biedl syndrome 12 [DO Concept]
- Bardet-Biedl syndrome 12 [ORDO Gene]
- Bardet-Biedl syndrome 12 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 12 [HGNC gene]
- Bardet-Biedl syndrome 12 [MeSH concept]
DO Cross reference
- Bardet-Biedl syndrome 12 [DO Concept]
Genes related to phenotype
- Bbs12 gene [OMIM gene]
HPO term(s)
- Abnormality of the kidney [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cognitive impairment [HPO term]
- Hypogonadism [HPO term]
- Obesity [HPO term]
- Polydactyly [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 12 [DO Concept]
- Bardet-Biedl syndrome 12 [MeSH concept]
- Bardet-Biedl syndrome 12 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 12 [ORDO Gene]

Keyword's position in hierarchy(ies) :

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