multiple synostoses syndrome 1

Summary

DOID:0081317 - multiple synostoses syndrome 1

Disease Ontology Definition:A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.

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

: nog

MIM:

MIM:186500 - MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1

MIM:186500 - MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1

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)