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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, NCI:C135087, 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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory