Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060354 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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