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ONTOLOGY REPORT - ANNOTATIONS


Term:xanthomatosis
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Accession:DOID:3345 term browser browse the term
Definition:A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.
Synonyms:exact_synonym: Xanthoma;   Xanthomas;   Xanthomatoses;   xanthelasmatosis
 narrow_synonym: Xanthelasmas, periorbital
 primary_id: MESH:D014973;   RDO:0002443
For additional species annotation, visit the Alliance of Genome Resources.


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xanthomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:11554173
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:8554872
G Ldlr low density lipoprotein receptor JBrowse link 8 22,750,425 22,773,305 RGD:12910105
cerebrotendinous xanthomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 JBrowse link 9 81,968,285 81,998,213 RGD:1600872
RGD:8554872
RGD:7240710
RGD:11554173
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        lipid metabolism disorder 741
          xanthomatosis 5
            Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 1
            Necrobiotic Xanthogranuloma 0
            Xanthogranulomatous Sialadenitis 0
            cerebrotendinous xanthomatosis 1
            verruciform xanthoma of skin 0
            xanthogranulomatous cholecystitis 0
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            lipid metabolism disorder 741
              lipid storage disease 364
                xanthomatosis 5
                  Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 1
                  Necrobiotic Xanthogranuloma 0
                  Xanthogranulomatous Sialadenitis 0
                  cerebrotendinous xanthomatosis 1
                  verruciform xanthoma of skin 0
                  xanthogranulomatous cholecystitis 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.