multiple synostoses syndrome 2

Summary

DOID:0081318 - multiple synostoses syndrome 2

Disease Ontology Definition:A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gdf5

MIM:

MIM:610017 - MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2

MIM:610017 - MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): multiple synostoses syndrome (is_a)