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Disease Ontology Browser
distal arthrogryposis type 3 (DOID:0111607)
Alliance: disease page
Synonyms: camptodactyly-cleft palate-clubfoot syndrome; DA3; distal arthrogryposis multiplex congenita type IIA; Gordon syndrome
Alt IDs: OMIM:114300, MESH:C537288, ORDO:376
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory