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Disease Ontology Browser
Stormorken syndrome (DOID:0060354)
Alliance: disease page
Synonyms: thrombocytopathy, asplenia and miosis
Alt IDs: OMIM:185070, MESH:C566108, ORDO:3204, UMLS_CUI:C1861451
Definition: A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern.

Disease References using Mouse Models (2)
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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11/12/2024
MGI 6.24 		The Jackson Laboratory