Term Name: | Stormorken syndrome |
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Synonyms: | thrombocytopathy, asplenia and miosis |
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. |
Ontology: | Human Disease [DOID:0060354] ( DOID:0060354 ) |