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Summary Literature (0)
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: camptodactyly-cleft palate-clubfoot syndrome, DA3, distal arthrogryposis multiplex congenita type IIA, Gordon syndrome

Xenbase Genes : piezo2


MIM:
MIM:114300 - ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3

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)