distal arthrogryposis type 5

Summary

DOID:0111608 - distal arthrogryposis type 5

Disease Ontology Definition:A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.

Synonyms: arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome, DA5, DAIIB, distal arthrogryposis type IIB, distal arthrogryposis with ophthalmoplegia, oculomelic amyoplasia

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)