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ENGeleophysic Dysplasia 2 (GPHYSD2)
Alias:
Gphysd2
Dysplasia, Geleophysic, Type 2
Geleophysic Dysplasia
Geleophysic Dwarfism
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Geleophysic Dysplasia 2, also known as gphysd2, is related to geleophysic dysplasia and acromicric dysplasia, and has symptoms including joint stiffness and thick skin. An important gene associated with Geleophysic Dysplasia 2 is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Phospholipase-C Pathway and NF-KappaB Family Pathway. Affiliated tissues include bone and skin, and related phenotypes are short stature and limitation of joint mobility
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