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progressive pseudorheumatoid arthropathy of childhood

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.
Uniprot Description Autosomal recessive disorder characterized by stiffness and swelling of joints, motor weakness and joint contractures. Signs and symptoms of the disease develop typically between three and eight years of age. This progressive disease is a primary disorder of articular cartilage with continued cartilage loss and destructive bone changes with aging.
Disease Ontology Description A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22.
Mondo Term and Equivalent IDs
MONDO:0008827:  progressive pseudorheumatoid arthropathy of childhood
GARD:0009184: 
MESH:C535387: 
Orphanet:1159: 
SCTID:254065005: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)