OBO ID: DOID:0090004
Term Name: progressive pseudorheumatoid arthropathy of childhood Search Ontology:
Synonyms:
  • spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
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. (3)
References:
Ontology: Human Disease   (DOID:0090004)
OTHER progressive pseudorheumatoid arthropathy of childhood PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CCN6 Progressive pseudorheumatoid dysplasia 208230
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None