| Metadata | |
|---|---|
| ID | DOID:0111608 |
| Name | distal arthrogryposis type 5 |
| Definition | A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function 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/23487782 |
| Xrefs |
SNOMEDCT_US_2021_09_01:715217004 |
| Subsets |
DO_rare_slim |
| Synonyms |
arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome [EXACT] DA5 [EXACT] DAIIB [EXACT] distal arthrogryposis type IIB [EXACT] distal arthrogryposis with ophthalmoplegia [EXACT] oculomelic amyoplasia [EXACT] |
| Parent Relationships |