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ENChondrodysplasia, Blomstrand Type (BOCD)
Alias:
Chondrodysplasia Blomstrand Type
Bocd
Blomstrand Lethal Chondrodysplasia
Blomstrand Osteochondrodysplasia
Blomstrand Chondrodysplasia
Blc
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Chondrodysplasia, Blomstrand Type, also known as chondrodysplasia blomstrand type, is related to isolated growth hormone deficiency, type ia and pseudo-torch syndrome 1. An important gene associated with Chondrodysplasia, Blomstrand Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. Affiliated tissues include bone and eye, and related phenotypes are cataract and depressed nasal bridge
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