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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,
Echinobase Genes :
MIM:114300 - arthrogryposis, distal, type 3; da3 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee