Acromicric Dysplasia (ACMICD)

Alias:
Acmicd
Acromicric Skeletal Dysplasia
Dysplasia, Acromicric
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Acromicric Dysplasia, also known as acmicd, is related to geleophysic dysplasia 1 and aortic aneurysm, familial thoracic 4, and has symptoms including hoarseness and thick skin. An important gene associated with Acromicric Dysplasia is FBN1 (Fibrillin 1), and among its related pathways/superpathways are ERK Signaling and Akt Signaling. Affiliated tissues include bone and skin, and related phenotypes are short nose and anteverted nares
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
20
124
6

Medical Symptom

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Description
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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References Literature

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