| 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/6807993, https://www.ncbi.nlm.nih.gov/pubmed/15601861, https://www.ncbi.nlm.nih.gov/pubmed/15215498 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Childhood onset has material basis in some autosomal recessive inheritance |