Details of Disease | DrugMAP

General Information of Disease (ID: DISSCEJ0)

Disease Name	Auriculocondylar syndrome 3
Synonyms	AURICULOCONDYLAR syndrome 3; ARCND3; Auriculocondylar syndrome 3; Auriculocondylar syndrome type 3
Disease Hierarchy	DISW3W1P: Auriculocondylar syndrome DISSCEJ0: Auriculocondylar syndrome 3
Disease Identifiers	MONDO ID MONDO_0014312 UMLS CUI C3810332 OMIM ID 615706 MedGen ID 816662

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EDN1	TTJR60Z	Strong	Autosomal recessive	[1]
EDN1	TTJR60Z	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EDN1	OTZCACEG	Strong	Autosomal recessive	[1]
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References

1	Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. Am J Hum Genet. 2013 Dec 5;93(6):1118-25. doi: 10.1016/j.ajhg.2013.10.023. Epub 2013 Nov 21.