Details of Disease | DrugMAP

General Information of Disease (ID: DISTUCF7)

Disease Name	Question mark ears, isolated
Synonyms	Cosman deformity of the auricle; question MARK ears, isolated; QME; ears, prominent and constricted; auricular cleft, congenital; question mark ears, isolated
Disease Hierarchy	DISW3W1P: Auriculocondylar syndrome DISTUCF7: Question mark ears, isolated
Disease Identifiers	MONDO ID MONDO_0013013 UMLS CUI C2748545 OMIM ID 612798 MedGen ID 411238

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	moderate	Genetic Variation	[1]
EDN1	TTJR60Z	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

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

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.