Progressive Pseudorheumatoid Arthropathy Of Childhood
Disease ID: disease_node_15649
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| Dbxref | ICD10CM:Q77.7, MIM:208230, ORDO:1159 |
|---|---|
| Subclassof | DOID_2256, DOID_0050737 |
| Data Source | DOID |
| Synonyms | spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome |
| Doid Label | progressive pseudorheumatoid arthropathy of childhood |
| Doid Description | 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. |
| Existence Starts During | HP_0011463 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15649 |
| Doid Id | DOID_0090004 |
| Label | Progressive Pseudorheumatoid Arthropathy Of Childhood |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)