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Metadata
ID	DOID:0060354
Name	Stormorken syndrome
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. http://ghr.nlm.nih.gov/condition/stormorken-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/24619930, https://www.ncbi.nlm.nih.gov/pubmed/25577287
Xrefs	MESH:C566108 OMIM:185070 ORDO:3204 SNOMEDCT_US_2023_03_01:711407000 UMLS_CUI:C1861451
Subsets	DO_rare_slim
Synonyms	thrombocytopathy, asplenia and miosis [EXACT]
Parent Relationships	is_a blood platelet disease is_a autosomal dominant disease