distal arthrogryposis type 3

Summary

DOID:0111607 - distal arthrogryposis type 3

Disease Ontology Definition:A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.

Synonyms: DA3, Gordon syndrome, camptodactyly-cleft palate-clubfoot syndrome, distal arthrogryposis multiplex congenita type IIA,

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

: piezo2

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

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

Parent(s): autosomal dominant disease (is_a), distal arthrogryposis (is_a)