Desbuquois syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity, multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. (Orphanet Rare Disease Ontology, Orphanet_1425)
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1 genes/proteins associated with the disease Desbuquois syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
CANT1 calcium activated nucleotidase 1 2.88009