| Metadata | |
|---|---|
| ID | DOID:0060847 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060847 Copy |
| Name | Leri-Weill dyschondrosteosis |
| Definition | An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. https://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/, https://www.ncbi.nlm.nih.gov/pubmed/10713888, https://www.ncbi.nlm.nih.gov/pubmed/21712857, https://www.ncbi.nlm.nih.gov/pubmed/9590292 |
| Xrefs |
SNOMEDCT_US_2025_09_01:17818006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships |