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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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory