Stormorken syndrome
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. [ http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007637 ]
Term info
Stormorken syndrome
- thrombocytopathy, asplenia and miosis
DO_rare_slim
elvira
2015-07-16T16:30:32Z
disease_ontology
DOID:0060354