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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:15300964, PMID:15300987, PMID:16152649, PMID:21528827, PMID:22791401, PMID:22987568, PMID:23270760, PMID:25741868, PMID:25988854, PMID:27291587, PMID:27436824, PMID:28492532, PMID:29092958, PMID:30311386 NCBI chr20:44,237,491...44,255,064
Ensembl chr20:44,237,491...44,255,064
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          progressive pseudorheumatoid arthropathy of childhood 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                progressive pseudorheumatoid arthropathy of childhood 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.