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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM:208230
ClinVar Annotator: match by term: Progressive pseudorheumatoid dysplasia
OMIM
ClinVar
PMID:10471507 PMID:16152649 PMID:21528827 PMID:22791401 PMID:22987568 More... NCBI chr20:42,569,309...42,585,126
Ensembl chr20:42,569,309...42,585,126
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      bone development disease 1424
        osteochondrodysplasia 481
          progressive pseudorheumatoid arthropathy of childhood 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          monogenic disease 7224
            autosomal genetic disease 6350
              autosomal recessive disease 3544
                progressive pseudorheumatoid arthropathy of childhood 1
paths to the root