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Human Disease

progressive pseudorheumatoid arthropathy of childhood

Term ID
DOID:0090004
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 )
Relationships
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Genes Involved
Zebrafish Models