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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

UMLS_CUI:C1861451

Subsets

DO_rare_slim

Synonyms

thrombocytopathy, asplenia and miosis [EXACT]

Parent Relationships

is_a blood platelet disease

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