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ENCamurati-Engelmann Disease (CAEND)
Alias:
Progressive Diaphyseal Dysplasia
Diaphyseal Dysplasia
Diaphyseal Dysplasia 1, Progressive
Camurati-Engelmann Syndrome
Engelmann Disease
Ced
Pdd
Caend
Dpd1
Progressive Diaphyseal Dysplasia, Tgfb1-Related Diaphyseal Dysplasia Camurati-Engelmann
Diaphyseal Osteosclerosis
Diaphyseal Hyperostosis
Engelman's Disease
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Camurati-Engelmann Disease, also known as progressive diaphyseal dysplasia, is related to hyperostosis and bone disease, and has symptoms including headache, pain in lower limb and waddling gait. An important gene associated with Camurati-Engelmann Disease is TGFB1 (Transforming Growth Factor Beta 1), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include bone and spinal cord, and related phenotypes are skeletal dysplasia and abnormal skull morphology
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MALACARDS
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