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.
|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)