Bardet-biedl syndrome 13

Preferred Label : Bardet-biedl syndrome 13;

Symbol : BBS13;

CISMeF acronym : BBS13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MKS1 gene (MKS1, 609883.0006);

Prefixed ID : #615990;

Détails

Origin ID

615990;

UMLS CUI

C2673873;

Automatic exact mappings (from CISMeF team)
- Bardet-Biedl syndrome 13 [DO Concept]
- Bardet-Biedl syndrome 13 [MeSH concept]
- Bardet-Biedl syndrome 13 [MeSH Supplementary Concept]
- MKS transition zone complex subunit 1 [ORDO Gene]
- MKS transition zone complex subunit 1 [HGNC gene]
DO Cross reference
- Bardet-Biedl syndrome 13 [DO Concept]
Genes related to phenotype
- Mks transition zone complex subunit 1 [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Obesity [HPO term]
- 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 13 [DO Concept]
- Bardet-Biedl syndrome 13 [MeSH concept]
- Bardet-Biedl syndrome 13 [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients