Terminology Service for NFDI4Health

Stormorken syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0060354


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://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007637 ]

Term info

Label

Stormorken syndrome

Synonyms
  • thrombocytopathy, asplenia and miosis
database cross reference
Subsets

DO_rare_slim

created by

elvira

creation date

2015-07-16T16:30:32Z

has obo namespace

disease_ontology

id

DOID:0060354