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progressive pseudorheumatoid arthropathy of childhood
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0090004
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
