progressive pseudorheumatoid arthropathy of childhood

Summary

DOID:0090004 - progressive pseudorheumatoid arthropathy of childhood

Disease Ontology 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.

Synonyms: spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ccn6

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008827 - progressive pseudorheumatoid arthropathy of childhood

MONDO:0008827 - progressive pseudorheumatoid arthropathy of childhood

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), osteochondrodysplasia (is_a)