Question Mark Ears, Isolated (QME)

Alias:
Cosman Deformity of the Auricle
Qme
Ears, Prominent and Constricted
Prominent and Constricted Ears
Ears Prominent and Constricted
Auricular Cleft, Congenital
Congenital Auricular Cleft
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Question Mark Ears, Isolated, also known as cosman deformity of the auricle, is related to auriculocondylar syndrome 1 and auriculocondylar syndrome. An important gene associated with Question Mark Ears, Isolated is EDN1 (Endothelin 1), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Development Angiotensin activation of ERK. Affiliated tissues include skin, and related phenotypes are hearing abnormality and question mark ear
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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2
18
9

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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References Literature

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