Bardet-biedl syndrome 2

Preferred Label : Bardet-biedl syndrome 2;

Symbol : BBS2;

CISMeF acronym : BBS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the BBS2 gene (BBS2, 606151.0001);

Prefixed ID : #615981;

Details

Origin ID

615981;

UMLS CUI

C2936863;

Automatic exact mappings (from CISMeF team)
- BBS2 gene [LOINC component]
- Bardet-Biedl syndrome 2 [DO Concept]
- Bardet-Biedl syndrome 2 [ORDO Gene]
- Bardet-Biedl syndrome 2 [MeSH concept]
- Bardet-Biedl syndrome 2 [HGNC gene]
- Bardet-Biedl syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- Bardet-Biedl syndrome 2 [DO Concept]
Genes related to phenotype
- Bbs2 gene [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Diabetes mellitus [HPO term]
- Dilated cardiomyopathy [HPO term]
- External genital hypoplasia [HPO term]
- Global developmental delay [HPO term]
- Hypogonadism [HPO term]
- Intellectual disability [HPO term]
- Obesity [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Retinal degeneration [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 2 [DO Concept]
- Bardet-Biedl syndrome 2 [MeSH concept]
- Bardet-Biedl syndrome 2 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 2 [ORDO Gene]

Keyword's position in hierarchy(ies) :

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