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coxopodopatellar syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.
Uniprot Description An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami.
Mondo Term and Equivalent IDs
MONDO:0007841:  coxopodopatellar syndrome
DOID:0111382: 
GARD:0003030: 
MESH:C535540: 
Orphanet:1509: 
SCTID:720752007: 
UMLS:C1840061: