ONTOLOGY REPORT - ANNOTATIONS


Term:Shwachman-Diamond Syndrome 2
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Accession:DOID:9009168 term browser browse the term
Definition:A disease characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia. (OMIM)
Synonyms:exact_synonym: SDS2
 primary_id: OMIM:617941
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Shwachman-Diamond Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efl1 elongation factor like GTPase 1 JBrowse link 1 144,601,425 144,740,634 RGD:8554872
RGD:7240710

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Path 1
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  disease 14919
    Developmental Diseases 7761
      bone development disease 894
        Shwachman-Diamond Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      musculoskeletal system disease 3995
        connective tissue disease 2584
          bone disease 2124
            bone development disease 894
              Shwachman-Diamond Syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.