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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

In OMIM:
OMIM:185800 - SYMPHALANGISM, PROXIMAL, 1A; SYM1A

In Mondo Disease Ontology:
MONDO:0008511 - proximal symphalangism (disease)

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

Xenbase Genes : gdf5, nog

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), bone disease (is_a), syndrome (is_a)