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Summary Literature (0)
DOID:0060354 - Stormorken syndrome

Disease Ontology 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.

Synonyms: thrombocytopathy, asplenia and miosis,

Xenbase Genes : stim1, orai1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008497 - Stormorken syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), blood platelet disease (is_a)