FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Stormorken syndrome ID (Ontology) DOID:0060354 (Human Disease)
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.
Also Known As "thrombocytopathy, asplenia and miosis"
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 Genes
 Stormorken syndrome       1
 for disease ribbon | Stormorken syndrome       1
 model of | Stormorken syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
blood coagulation disease       |
 |__blood platelet disease______|
                                Stormorken syndrome  1 rec.
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Is a autosomal dominant disease
blood platelet disease
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Synonyms
  • "thrombocytopathy, asplenia and miosis" EXACT
Secondary IDs
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MESH:C566108
MIM:185070
ORDO:3204
SNOMEDCT_US_2023_03_01:711407000
UMLS_CUI:C1861451