Term Name: | distal arthrogryposis type 3 |
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Synonyms: | camptodactyly-cleft palate-clubfoot syndrome, DA3, distal arthrogryposis multiplex congenita type IIA, Gordon syndrome |
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. |
Ontology: | Human Disease [DOID:0111607] ( DOID:0111607 ) |