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Summary Literature (0)
DOID:0080787 - proximal symphalangism 1


Disease Ontology Definition:A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.

Synonyms:

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


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): proximal symphalangism (is_a)