Branchiootic syndrome 3

Preferred Label : Branchiootic syndrome 3;

Symbol : BOS3;

CISMeF acronym : BOS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bo syndrome 3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SIX homeobox 1 gene (SIX1, 601205.0001);

Prefixed ID : #608389;

Détails

Origin ID

608389;

UMLS CUI

C1842124;

Currated CISMeF NLP mapping
- branchiootic syndrome 3 [MeSH concept]
- branchiootic syndrome 3 [MeSH Supplementary Concept]
DO Cross reference
- branchiootic syndrome [DO Concept]
Genes related to phenotype
- Six homeobox 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Branchial cyst [HPO term]
- Commissural lip pit [HPO term]
- Lacrimal duct stenosis [HPO term]
- Preauricular pit [HPO term]
- Preauricular skin tag [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Branchiootic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- branchiootic syndrome 3 [MeSH Supplementary Concept]
- branchiootic syndrome 3 [MeSH concept]

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

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