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Summary Literature (0)
DOID:0060462 - Desbuquois dysplasia


Disease Ontology Definition:An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.

Synonyms: Desbuquois syndrome, micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

In OMIM:
OMIM:251450 - DESBUQUOIS DYSPLASIA 1; DBQD1
OMIM:615777 - DESBUQUOIS DYSPLASIA 2; DBQD2

In Mondo Disease Ontology:
MONDO:0015426 - Desbuquois dysplasia

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : xylt1, cant1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): osteochondrodysplasia (is_a)