Term Name: | progressive pseudorheumatoid arthropathy of childhood |
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Synonyms: | spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome |
Definition: | 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. |
Ontology: | Human Disease [DOID:0090004] ( DOID:0090004 ) |