Leri-Weill dyschondrosteosis
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
growth plate
|
| gptkbp:causedBy |
mutation in SHOX gene
|
| gptkbp:characterizedBy |
short stature
Madelung deformity mesomelic limb shortening |
| gptkbp:diagnosedBy |
genetic testing
radiographic imaging |
| gptkbp:firstDescribed |
1929
André Léri Jean A. Weill |
| https://www.w3.org/2000/01/rdf-schema#label |
Leri-Weill dyschondrosteosis
|
| gptkbp:ICD-10_code |
Q77.6
|
| gptkbp:inheritance |
pseudoautosomal dominant
|
| gptkbp:OMIM |
127300
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Turner_syndrome
Langer mesomelic dysplasia |
| gptkbp:bfsParent |
gptkb:Madelung's_deformity
|
| gptkbp:bfsLayer |
7
|