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Metadata
ID DOID:0090004
Name progressive pseudorheumatoid arthropathy of childhood
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.
https://www.ncbi.nlm.nih.gov/pubmed/15215498, https://www.ncbi.nlm.nih.gov/pubmed/15601861, https://www.ncbi.nlm.nih.gov/pubmed/6807993
Xrefs

ICD10CM:Q77.7

OMIM:208230

ORDO:1159

Subsets

DO_rare_slim

Synonyms

spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome [EXACT]

Parent Relationships

is_a osteochondrodysplasia

is_a autosomal recessive disease

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