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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Stormorken syndrome OMIM
ClinVar
PMID:4085141, PMID:12623447, PMID:12745453, PMID:12944247, PMID:12944248, PMID:22190180, PMID:23332920, PMID:24492416, PMID:24570283, PMID:24591628, PMID:24619930, PMID:25044882, PMID:25326555, PMID:25577287, PMID:25741868, PMID:25918394, PMID:26184105, PMID:26436962, PMID:27066587, PMID:27239559, PMID:28492532, PMID:28624464, PMID:29237733 NCBI chr 1:167,373,894...167,533,412
Ensembl chr 1:167,373,678...167,533,420
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Stormorken syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              developmental disorder of mental health 3113
                specific developmental disorder 2287
                  communication disorder 291
                    learning disability 87
                      reading disorder 8
                        dyslexia 7
                          Stormorken syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.