| Metadata | |
|---|---|
| ID | DOID:0111607 |
| Name | distal arthrogryposis type 3 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/19571066, https://www.ncbi.nlm.nih.gov/pubmed/24726473 |
| Xrefs |
SNOMEDCT_US_2021_09_01:897570002 |
| Subsets |
DO_rare_slim |
| Synonyms |
camptodactyly-cleft palate-clubfoot syndrome [EXACT] DA3 [EXACT] distal arthrogryposis multiplex congenita type IIA [EXACT] Gordon syndrome [EXACT] |
| Parent Relationships |