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Stormorken syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease blood platelet disease
External Links
- Disease Ontology
- DOID:0060354
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
