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Echinobase
Summary Literature (0)
DOID:0050788 - proximal symphalangism


Disease Ontology Definition:An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.

Synonyms: Cushing's symphalangism,

Echinobase Genes : nog


OMIM:
MIM:185800 - symphalangism, proximal, 1a; sym1a

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a)