Acromicric Dysplasia (ACMICD)

Acromicric Dysplasia(来自ICD-11)
别称:
Acmicd
Acromicric Skeletal Dysplasia
Dysplasia, Acromicric
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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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MALACARDS
AD
Newborn
<1/1000000
20
128
6

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