Bardet-biedl syndrome 8

Preferred Label : Bardet-biedl syndrome 8;

Symbol : BBS8;

CISMeF acronym : BBS8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tetratricopeptide repeat domain-containing protein 8 gene (TTC8, 608132.0001);

Prefixed ID : #615985;

Details

Origin ID

615985;

UMLS CUI

C1859566;

Automatic exact mappings (from CISMeF team)
- Bardet-Biedl syndrome 8 [DO Concept]
- Bardet-Biedl syndrome 8 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 8 [MeSH concept]
- tetratricopeptide repeat domain 8 [ORDO Gene]
- tetratricopeptide repeat domain 8 [HGNC gene]
DO Cross reference
- Bardet-Biedl syndrome 8 [DO Concept]
Genes related to phenotype
- Tetratricopeptide repeat domain-containing protein 8 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Cognitive impairment [HPO term]
- Global developmental delay [HPO term]
- Hypogonadism [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Obesity [HPO term]
- Polydactyly [HPO term]
- Renal dysplasia [HPO term]
- Rod-cone dystrophy [HPO term]
- Situs inversus totalis [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 8 [DO Concept]
- Bardet-Biedl syndrome 8 [MeSH concept]
- Bardet-Biedl syndrome 8 [MeSH Supplementary Concept]

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