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ONTOLOGY REPORT - ANNOTATIONS


Term:Stormorken syndrome
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Accession:DOID:0060354 term browser browse the term
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. (DO)
Synonyms:exact_synonym: thrombocytopathy, asplenia, and miosis
 primary_id: MESH:C566108
 alt_id: OMIM:185070;   RDO:0014565
 xref: ORDO:3204
For additional species annotation, visit the Alliance of Genome Resources.


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Stormorken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stim1 stromal interaction molecule 1 JBrowse link 1 167,373,894 167,533,412 RGD:7240710
RGD:8554872

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Path 1
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  disease 14759
    syndrome 4210
      Stormorken syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  communication disorder 213
                    learning disability 74
                      reading disorder 8
                        dyslexia 7
                          Stormorken syndrome 1
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