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Disease Ontology Browser
Schimke immuno-osseous dysplasia (DOID:0060490)
Alliance: disease page
Synonyms: immunoosseous dysplasia Schimke type; Schimke immunoosseous dysplasia; Schimke syndrome; spondyloepiphyseal dysplasia - nephrotic syndrome
Alt IDs: OMIM:242900, MESH:C536629, ORDO:1830, UMLS_CUI:C0877024
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/10/2017
MGI 6.10
The Jackson Laboratory