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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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
 xref: ORDO:1159


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progressive pseudorheumatoid arthropathy of childhood term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn6 cellular communication network factor 6 ISO ClinVar Annotator: match by term: Progressive pseudorheumatoid dysplasia OMIM
ClinVar		 PMID:10471507 PMID:16152649 PMID:21528827 PMID:21993478 PMID:22791401 More... NCBI chr20:42,569,309...42,585,126
Ensembl chr20:42,569,309...42,585,126 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      bone development disease 2299
        osteochondrodysplasia 840
          progressive pseudorheumatoid arthropathy of childhood 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      musculoskeletal system disease 8196
        connective tissue disease 5725
          bone disease 4227
            bone inflammation disease 1475
              arthropathy 1455
                progressive pseudorheumatoid arthropathy of childhood 1
paths to the root