Leri-Weill dyschondrosteosis
Information
- Disease name
- Leri-Weill dyschondrosteosis
- Disease ID
- DOID:0060847
- Description
- "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." [url:https\://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10713888, url:https\://www.ncbi.nlm.nih.gov/pubmed/21712857, url:https\://www.ncbi.nlm.nih.gov/pubmed/9590292]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- GARD:3224
- Cross Reference ID (Disease Ontology)
- MESH:C537119
- Cross Reference ID (Disease Ontology)
- MIM:127300
- Cross Reference ID (Disease Ontology)
- NCI:C126560
- Cross Reference ID (Disease Ontology)
- ORDO:240
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:17818006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265309