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ONTOLOGY REPORT - ANNOTATIONS


Term:progressive pseudorheumatoid arthropathy of childhood
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Accession:DOID:0090004 term browser browse the term
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. (DO)
Synonyms:exact_synonym: PPAC;   PPD;   SEDT-PA;   progressive pseudorheumatoid dysplasia;   spondyloepiphyseal dysplasia tarda with progressive arthropathy;   spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
 primary_id: MESH:C535387
 alt_id: OMIM:208230;   RDO:0000477
 xref: ORDO:1159
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progressive pseudorheumatoid arthropathy of childhood term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccn6 cellular communication network factor 6 JBrowse link 20 44,237,491 44,255,064 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      bone development disease 981
        osteochondrodysplasia 406
          progressive pseudorheumatoid arthropathy of childhood 1
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal recessive disease 1978
                progressive pseudorheumatoid arthropathy of childhood 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.