OBO ID: DOID:0090127 |
Term Name: | camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Search Ontology: | |
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Definition: | A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. (2) | ||
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Ontology: | Human Disease ( DOID:0090127 ) |
OTHER camptodactyly-arthropathy-coxa vara-pericarditis syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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