Bardet-biedl syndrome 10

Preferred Label : Bardet-biedl syndrome 10;

Symbol : BBS10;

CISMeF acronym : BBS10;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the BBS10 gene (BBS10, 610148.0001);

Prefixed ID : #615987;

Détails

Origin ID

615987;

UMLS CUI

C1859568;

Automatic exact mappings (from CISMeF team)
- BBS10 gene [LOINC component]
- Bardet-Biedl syndrome 10 [DO Concept]
- Bardet-Biedl syndrome 10 [ORDO Gene]
- Bardet-Biedl syndrome 10 [HGNC gene]
- Bardet-Biedl syndrome 10 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 10 [MeSH concept]
DO Cross reference
- Bardet-Biedl syndrome 10 [DO Concept]
Genes related to phenotype
- Bbs10 gene [OMIM gene]
HPO term(s)
- Abnormality of the kidney [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cognitive impairment [HPO term]
- Hypogonadism [HPO term]
- Obesity [HPO term]
- Polydactyly [HPO term]
- Renal cyst [HPO term]
- Renal insufficiency [HPO term]
- Retinal dystrophy [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 10 [DO Concept]
- Bardet-Biedl syndrome 10 [MeSH concept]
- Bardet-Biedl syndrome 10 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 10 [ORDO Gene]

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

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