FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term progressive pseudorheumatoid arthropathy of childhood ID (Ontology) DOID:0090004 (Human Disease)
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.
Also Known As "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome"
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 Genes
 progressive pseudorheumatoid arthropathy of childhood       1
 for disease ribbon | progressive pseudorheumatoid arthropathy of childhood       1
 model of | progressive pseudorheumatoid arthropathy of childhood       1
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autosomal genetic disease
 |__autosomal recessive disease__
bone development disease         |
 |__osteochondrodysplasia________|
cartilage disease                |
 |__osteochondrodysplasia________|
                                 progressive pseudorheumatoid arthropathy of childhood  1 rec.
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Is a autosomal recessive disease
osteochondrodysplasia
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Synonyms
  • "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome" EXACT
Secondary IDs
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ICD10CM:Q77.7
MIM:208230
ORDO:1159