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ENAcromesomelic Dysplasia 2b (AMD2B)
Alias:
Fibular Hypoplasia and Complex Brachydactyly
Du Pan Syndrome
Fibular Aplasia-Complex Brachydactyly Syndrome
Dupans
Amd2b
Dysplasia, Acromesomelic, Type 2b, Du Pan Syndrome
Acromesomelic Dysplasia-2b
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Acromesomelic Dysplasia 2b, also known as fibular hypoplasia and complex brachydactyly, is related to brachydactyly and acromesomelic dysplasia. An important gene associated with Acromesomelic Dysplasia 2b is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are 10q11.21q11.23 copy number variation syndrome and Bone morphogenic protein signaling and regulation. Affiliated tissues include bone, and related phenotypes are short stature and brachydactyly
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