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ENAcromesomelic Dysplasia 2a (AMD2A)
Alias:
Chondrodysplasia, Grebe Type
Acromesomelic Dysplasia, Grebe Type
Grebe Chondrodysplasia
Amd2a
Amdg
Acromesomelic Chondrodysplasia, Grebe Type
Dysplasia, Acromesomelic, Type 2a, Grebe
Achondrogenesis, Type Ii, Formerly
Achondrogenesis, Brazilian
Acromesomelic Dysplasia-2a
Grebe Dysplasia
Grebe Syndrome
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Acromesomelic Dysplasia 2a, also known as chondrodysplasia, grebe type, is related to acromesomelic dysplasia 1 and acromesomelic dysplasia 2c. An important gene associated with Acromesomelic Dysplasia 2a is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are ERK Signaling and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include bone and skin, and related phenotypes are skeletal dysplasia and bowing of the long bones
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