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

• ICD10CM:Q77.7
• MIM:208230
• ORDO:1159

Ontology

Human Disease   ( DOID:0090004 )