progressive pseudorheumatoid arthropathy of childhood

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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.

• [1]
• [2]
• [3]

Synonyms

• spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome

Cross References

• ICD10CM:Q77.7
• MIM:208230

Show All 3

Parent Terms

• autosomal recessive disease
• osteochondrodysplasia

Child Terms

None

Sources of Associations

• RGD
• MGI
• ZFIN
• FB
• WB
• SGD

Associated Genes

Associated Alleles

Associated Models