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Pyle disease

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.
Uniprot Description A disorder characterized by cortical-bone thinning, limb deformity, bone fragility and fractures.
Disease Ontology Description An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone.
Mondo Term and Equivalent IDs
MONDO:0009943:  Pyle disease
GARD:0004612: 
MESH:C536252: 
Orphanet:3005: 
SCTID:27837003: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)