OBO ID: DOID:0060490 |
Term Name: | Schimke immuno-osseous dysplasia | Search Ontology: | |
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Definition: | A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. (3) | ||
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Ontology: | Human Disease ( DOID:0060490 ) |
OTHER Schimke immuno-osseous dysplasia PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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