Auriculocondylar syndrome 3

Preferred Label : Auriculocondylar syndrome 3;

Symbol : ARCND3;

CISMeF acronym : ARCND3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the endothelin-1 gene (EDN1, 131240.0002);

Prefixed ID : #615706;

Details

Origin ID

615706;

UMLS CUI

C3810332;

Genes related to phenotype
- Endothelin 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Bilateral conductive hearing impairment [HPO term]
- Full cheeks [HPO term]
- Glossoptosis [HPO term]
- Laryngeal cleft [HPO term]
- Micrognathia [HPO term]
- Question mark ear [HPO term]
- Retrognathia [HPO term]
- Stenosis of the external auditory canal [HPO term]
ORDO concept(s)
- Auriculocondylar syndrome [ORDO Disease]
See also inter- (CISMeF)
- EDN1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Auriculocondylar syndrome [ORDO Disease]

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