Bardet-biedl syndrome 7

Preferred Label : Bardet-biedl syndrome 7;

Symbol : BBS7;

CISMeF acronym : BBS7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the BBS7 gene (BBS7, 607590.0001);

Prefixed ID : #615984;

Details

Origin ID

615984;

UMLS CUI

C1859565;

Automatic exact mappings (from CISMeF team)
- Bardet-Biedl syndrome 7 [DO Concept]
- Bardet-Biedl syndrome 7 [ORDO Gene]
- Bardet-Biedl syndrome 7 [HGNC gene]
- Bardet-Biedl syndrome 7 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 7 [MeSH concept]
DO Cross reference
- Bardet-Biedl syndrome 7 [DO Concept]
Genes related to phenotype
- Bbs7 gene [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly [HPO term]
- Deeply set eye [HPO term]
- Depressed nasal bridge [HPO term]
- Hypertelorism [HPO term]
- Hypogonadism [HPO term]
- Intellectual disability [HPO term]
- Malar flattening [HPO term]
- Narrow mouth [HPO term]
- Obesity [HPO term]
- Polydactyly [HPO term]
- Postaxial 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 7 [DO Concept]
- Bardet-Biedl syndrome 7 [MeSH concept]
- Bardet-Biedl syndrome 7 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 7 [ORDO Gene]

Keyword's position in hierarchy(ies) :

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