Term Name:	distal arthrogryposis type 5
Synonyms:	arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome, DA5, DAIIB, distal arthrogryposis type IIB, distal arthrogryposis with ophthalmoplegia, oculomelic amyoplasia
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.
Ontology:	Human Disease [DOID:0111608]   ( DOID:0111608 )