Bardet-biedl syndrome 6

Preferred Label : Bardet-biedl syndrome 6;

Symbol : BBS6;

CISMeF acronym : BBS6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MKKS gene (MKKS, 604896.0003);

Prefixed ID : #605231;

Details

Origin ID

605231;

UMLS CUI

C1858054;

Automatic exact mappings (from CISMeF team)
- Bardet-Biedl syndrome 6 [DO Concept]
- Bardet-Biedl syndrome 6 [MeSH concept]
- Bardet-Biedl syndrome 6 [MeSH Supplementary Concept]
- symbol withdrawn BBS6 [HGNC gene]
DO Cross reference
- Bardet-Biedl syndrome 6 [DO Concept]
Genes related to phenotype
- Mkks centrosomal shuttling protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diabetes mellitus [HPO term]
- External genital hypoplasia [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Obesity [HPO term]
- Polydactyly [HPO term]
- Renal cyst [HPO term]
- Retinal dystrophy [HPO term]
- Rod-cone dystrophy [HPO term]
- Syndactyly [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 6 [DO Concept]
- Bardet-Biedl syndrome 6 [MeSH concept]
- Bardet-Biedl syndrome 6 [MeSH Supplementary Concept]

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