ONTOLOGY REPORT - ANNOTATIONS


Term:lymphangioleiomyomatosis
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Accession:DOID:3319 term browser browse the term
Definition:A disease characterized by the progressive invasion of SMOOTH MUSCLE CELLS into the LYMPHATIC VESSELS, and the BLOOD VESSELS. The majority of the cases occur in the LUNGS of women of child-bearing age, eventually blocking the flow of air, blood, and lymph. The common symptom is shortness of breath (DYSPNEA).
Synonyms:exact_synonym: LAM;   Lymphangiomyomatoses;   lung lymphangioleiomyomatosis;   lymphangioleiomyomatoses;   lymphangiomyomatosis;   pulmonary lymphangioleiomyomatosis
 narrow_synonym: Lymphangioleiomyomatosis, somatic
 primary_id: MESH:D018192
 alt_id: OMIM:606690;   RDO:0007097
 xref: GARD:3319
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lymphangioleiomyomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:4892300
G Hes1 hes family bHLH transcription factor 1 JBrowse link 11 74,312,837 74,315,249 RGD:11554173
G Jag2 jagged canonical Notch ligand 2 JBrowse link 6 137,711,144 137,733,331 RGD:11554173
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:8693678
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:5129697
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:4892080
G Srf serum response factor JBrowse link 9 16,737,637 16,747,226 RGD:1580753
G Stat1 signal transducer and activator of transcription 1 JBrowse link 9 54,287,540 54,327,958 RGD:2298537
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:2298537
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:7240710
RGD:8554872
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:1580521
RGD:8554872
RGD:11568662
RGD:7240710
G Vegfd vascular endothelial growth factor D JBrowse link X 31,816,480 31,852,239 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      respiratory system disease 2375
        lung disease 1370
          lymphangioleiomyomatosis 12
Path 2
Term Annotations click to browse term
  disease 14823
    disease of cellular proliferation 5574
      cancer 3967
        organ system cancer 3778
          cardiovascular cancer 36
            vascular cancer 36
              perivascular tumor 17
                perivascular epithelioid cell tumor 15
                  lymphangioleiomyomatosis 12
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.