DISEASES

Disease-gene associations mined from literature

Human genes for progressive pseudorheumatoid arthropathy of childhood

Progressive pseudorheumatoid arthropathy of childhood [DOID:0090004]

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.

Synonyms:  progressive pseudorheumatoid arthropathy of childhood,  DOID:0090004,  progressive pseudorheumatoid arthropathy of childhoods,  spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome,  spondyloepiphyseal dysplasia tardaprogressive arthropathy syndrome ...