Thanatophoric Dysplasia Type 1

About the Disease
Thanatophoric Dysplasia, Type I, also known as thanatophoric dysplasia, is related to platyspondylic lethal skeletal dysplasia, torrance type and achondrogenesis. An important gene associated with Thanatophoric Dysplasia, Type I is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include temporal lobe, bone and spinal cord, and related phenotypes are macrocephaly and respiratory insufficiency

Common Targets
FGFR3

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