OBO ID: DOID:0060354
Term Name: Stormorken syndrome Search Ontology:
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 Stormorken syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
STIM1 Stormorken syndrome 185070
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (2)
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