Desbuquois dysplasia

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Echinobase

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cant1

MIM:

MIM:251450 - desbuquois dysplasia 1; dbqd1

MIM:251450 - desbuquois dysplasia 1; dbqd1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): osteochondrodysplasia (is_a)