Bardet-biedl syndrome 3

Preferred Label : Bardet-biedl syndrome 3;

Symbol : BBS3;

CISMeF acronym : BBS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ADP-ribosylation factor-like 6 gene (ARL6, 608845.0001);

Prefixed ID : #600151;

Details

Origin ID

600151;

UMLS CUI

C1859564;

Automatic exact mappings (from CISMeF team)
- Bardet-Biedl syndrome 3 [DO Concept]
- Bardet-Biedl syndrome 3 [MeSH concept]
- Bardet-Biedl syndrome 3 [MeSH Supplementary Concept]
- symbol withdrawn BBS3 [HGNC gene]
DO Cross reference
- Bardet-Biedl syndrome 3 [DO Concept]
Genes related to phenotype
- Adp-ribosylation factor-like gtpase 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Congenital onset [HPO term]
- External genital hypoplasia [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Nyctalopia [HPO term]
- Obesity [HPO term]
- Pigmentary retinopathy [HPO term]
- Postaxial polydactyly [HPO term]
- Renal hypoplasia [HPO term]
- Rod-cone dystrophy [HPO term]
- Tricuspid regurgitation [HPO term]
- Visual impairment [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 3 [DO Concept]
- Bardet-Biedl syndrome 3 [MeSH concept]
- Bardet-Biedl syndrome 3 [MeSH Supplementary Concept]

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