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ENDesbuquois Dysplasia 1 (DBQD1)
Alias:
Desbuquois Syndrome
Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification
Desbuquois Dysplasia
Dbqd1
Dbqd
Dysplasia, Desbuquois, Type 1
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Desbuquois Dysplasia 1, also known as desbuquois syndrome, is related to desbuquois dysplasia and osteochondrodysplasia, and has symptoms including waddling gait An important gene associated with Desbuquois Dysplasia 1 is CANT1 (Calcium Activated Nucleotidase 1), and among its related pathways/superpathways are Chondroitin sulfate/dermatan sulfate metabolism and Proteoglycan biosynthesis. Affiliated tissues include bone and eye, and related phenotypes are intellectual disability and short neck
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