ONTOLOGY REPORT - ANNOTATIONS


Term:Shwachman-Diamond syndrome
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Accession:DOID:0060479 term browser browse the term
Definition:A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. (DO)
Synonyms:exact_synonym: Pancreatic insufficiency and bone marrow dysfunction;   SDS;   Shwachman syndrome;   Shwachman-Bodian syndrome;   Shwachman-Bodian-Diamond Syndrome;   Shwachman-Diamond syndrome 1;   Shwachman-Diamond-Oski syndrome;   congenital lipomatosis of pancreas;   metaphyseal chondrodysplasia, Shwachman type
 primary_id: MESH:C537330
 alt_id: OMIM:260400;   RDO:0003151
 xref: GARD:4863;   OMIM:PS260400
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Shwachman-Diamond syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 JBrowse link 2 60,419,446 60,446,656 RGD:11554173
G Kmt2b lysine methyltransferase 2B JBrowse link 1 89,022,889 89,042,176 RGD:8554872
G Sbds SBDS, ribosome maturation factor JBrowse link 12 29,921,443 29,930,602 RGD:7240710
RGD:8554872
G Serpini2 serpin family I member 2 JBrowse link 2 173,640,385 173,670,790 RGD:13592920
G Srp54a signal recognition particle 54A JBrowse link 6 75,996,629 76,035,768 RGD:8554872
RGD:11554173

Term paths to the root
Path 1
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  disease 14875
    syndrome 4220
      Shwachman-Diamond syndrome 5
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            lipid metabolism disorder 721
              lipomatosis 9
                Shwachman-Diamond syndrome 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.