Stormorken syndrome

Term ID

DOID:0060354

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. (3)

References

• MESH:C566108
• OMIM:185070
• ORDO:3204
• SNOMEDCT_US_2023_03_01:711407000
• UMLS_CUI:C1861451

Ontology

Human Disease   ( DOID:0060354 )