ONTOLOGY REPORT - ANNOTATIONS


Term:lipomatosis
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Accession:DOID:3153 term browser browse the term
Definition:A disorder characterized by the accumulation of encapsulated or unencapsulated tumor-like fatty tissue resembling LIPOMA.
Synonyms:exact_synonym: Lipomatoses
 primary_id: MESH:D008068;   RDO:0000730
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lipomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cel carboxyl ester lipase JBrowse link 3 7,134,021 7,141,522 RGD:2313965
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
Encephalocraniocutaneous Lipomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
RGD:7240710
Pierpont syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 transducin (beta)-like 1 X-linked receptor 1 JBrowse link 2 107,221,913 107,359,229 RGD:8554872
RGD:7240710
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
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        lipomatosis 9
          Encephalocraniocutaneous Lipomatosis 1
          Familial Multiple Lipomatosis 0
          Hapnes Boman Skeie Syndrome 0
          Pancreatic Lipomatosis Duodenal Stenosis 0
          Pelvic Lipomatosis with Crossed Renal Ectopia 0
          Pierpont syndrome 1
          Shwachman-Diamond syndrome 5
          adiposis dolorosa 0
          diffuse lipomatosis 0
          mediastinal lipomatosis 0
          multiple symmetric lipomatosis + 0
          pelvic lipomatosis 0
          steroid lipomatosis 0
Path 2
Term Annotations click to browse term
  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
                Encephalocraniocutaneous Lipomatosis 1
                Familial Multiple Lipomatosis 0
                Hapnes Boman Skeie Syndrome 0
                Pancreatic Lipomatosis Duodenal Stenosis 0
                Pelvic Lipomatosis with Crossed Renal Ectopia 0
                Pierpont syndrome 1
                Shwachman-Diamond syndrome 5
                adiposis dolorosa 0
                diffuse lipomatosis 0
                mediastinal lipomatosis 0
                multiple symmetric lipomatosis + 0
                pelvic lipomatosis 0
                steroid lipomatosis 0
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.