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proximal symphalangism

Disease Summary
Associated Targets (3)
Tbio

2

Tdark

1


GARD Rare
Mondo Description Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.
Disease Ontology Description An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
Mondo Term and Equivalent IDs
MONDO:0008511:  proximal symphalangism
GARD:0008182: 
MESH:C536223: 
OMIMPS:185800: 
Orphanet:3250: 
UMLS:C1861385: