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DO Term : progressive pseudorheumatoid arthropathy of childhood [DOID:0090004] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • ICD10CM:Q77.7,
  • 208230,
  • spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome,
  • ORDO:1159,
  • OMIM:208230
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Ontology

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Ontology Term --> Direct parents