WormBase Tree Display for DO_term: DOID:0090004
expand all nodes | collapse all nodes | view schema
| DOID:0090004 | Name | progressive pseudorheumatoid arthropathy of childhood | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome | |||
| Parent | Is_a | DOID:2256 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 208230 |
