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ENAcromesomelic Dysplasia 1 (AMD1)
Alias:
Acromesomelic Dysplasia, Maroteaux Type
Acromesomelic Dysplasia 1, Maroteaux Type
St. Helena Dysplasia
Amd1
Amdm
Acromesomelic Dysplasia Hunter-Thompson Type
Dysplasia, Acromesomelic, Type 1, Maroteaux
Acromesomelic Dysplasia-1
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Acromesomelic Dysplasia 1, also known as acromesomelic dysplasia, maroteaux type, is related to acromesomelic dysplasia 2c and acromesomelic dysplasia 2a. An important gene associated with Acromesomelic Dysplasia 1 is NPR2 (Natriuretic Peptide Receptor 2), and among its related pathways/superpathways are Phospholipase-C Pathway and Endochondral ossification with skeletal dysplasias. Affiliated tissues include bone and skin, and related phenotypes are frontal bossing and scoliosis
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