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Summary Literature (1)
DOID:0050788 - proximal symphalangism


Disease Ontology Definition:A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.

Synonyms: Cushing's symphalangism

Xenbase Genes : gdf5, nog

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008511 - proximal symphalangism (disease)

OMIM:
OMIM: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), bone disease (is_a), syndrome (is_a)