Summary Literature (0)

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,

Echinobase Genes :


OMIM:

MIM:208230 - arthropathy, progressive pseudorheumatoid, of childhood; ppac

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

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