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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Lymphangiomyoma
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Accession:DOID:9007091 term browser browse the term
Definition:A tumorlike condition characterized by SMOOTH MUSCLE and ENDOTHELIUM proliferation of LYMPHATIC VESSELS and LYMPH NODES in the MEDIASTINUM and retroperitoneum, also in the lung. It may be manifested by chylous PLEURAL EFFUSION and ASCITES.
Synonyms:exact_synonym: Lymphangioleiomyoma;   Lymphangioleiomyomas;   Lymphangiomyomas
 primary_id: MESH:D008203;   RDO:0006039
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
lymphangioleiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO RGD PMID:18285421 RGD:4892300 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr 6:137,711,144...137,733,331
Ensembl chr 6:137,711,155...137,733,026 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:23035046 RGD:8693678 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr 8:64,480,963...64,502,957
Ensembl chr 8:64,481,172...64,502,722 		JBrowse link
G Srf serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chr 9:16,737,637...16,747,226
Ensembl chr 9:16,737,642...16,747,225 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Lymphangiomyomatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:606690		 OMIM
ClinVar
CTD		 PMID:5279523 PMID:9242607 PMID:9328481 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10090883 PMID:10227394 PMID:10353610 PMID:10363127 PMID:10533066 PMID:10533067 PMID:10570911 PMID:10607950 PMID:10874311 PMID:11112665 PMID:11208653 PMID:11329144 PMID:11829138 PMID:12015165 PMID:12111193 PMID:12773163 PMID:12853839 PMID:14633685 PMID:14756965 PMID:15798777 PMID:16114042 PMID:16981987 PMID:17304050 PMID:18032745 PMID:18772611 PMID:18830229 PMID:19419980 PMID:20547222 PMID:21510812 PMID:21520333 PMID:21811971 PMID:22490766 PMID:22703879 PMID:22707517 PMID:22923433 PMID:23254740 PMID:23401075 PMID:24033266 PMID:24633152 PMID:24728327 PMID:25525159 PMID:25741868 PMID:25900779 PMID:26231267 PMID:26467025 PMID:26540169 PMID:27425891 PMID:27494029 PMID:28492532 PMID:29221145 PMID:29286531 PMID:32078667 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Lymphangiomyomatosis
ClinVar Annotator: match by term: Lymphangioleiomyomatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:606690
DNA:loss of heterozygosity
ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic		 ClinVar
CTD
OMIM		 PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 PMID:9412784 PMID:9463313 PMID:9829910 PMID:10090883 PMID:10205261 PMID:10215407 PMID:10533066 PMID:10533067 PMID:10570911 PMID:10577937 PMID:10607950 PMID:10633137 PMID:10732801 PMID:10735580 PMID:10823953 PMID:10905251 PMID:10942116 PMID:11068191 PMID:11112665 PMID:11208653 PMID:11290735 PMID:11520734 PMID:11521203 PMID:11603814 PMID:11741832 PMID:11741833 PMID:11829138 PMID:12062115 PMID:12086608 PMID:12111193 PMID:12136241 PMID:12235314 PMID:12752578 PMID:14993219 PMID:15024740 PMID:15072102 PMID:15483652 PMID:15595939 PMID:15798777 PMID:15874888 PMID:15963462 PMID:16032769 PMID:16114042 PMID:16464865 PMID:16554133 PMID:16981987 PMID:17034546 PMID:17120248 PMID:17304050 PMID:17536269 PMID:18032745 PMID:18302728 PMID:18308511 PMID:18414213 PMID:18854862 PMID:19369101 PMID:20108343 PMID:20165957 PMID:20399389 PMID:20633017 PMID:21252315 PMID:21309039 PMID:21332470 PMID:21510812 PMID:21520333 PMID:21910228 PMID:22552000 PMID:22558107 PMID:22703879 PMID:22867869 PMID:22903760 PMID:23006675 PMID:23254740 PMID:23389244 PMID:23504366 PMID:23514105 PMID:23955302 PMID:24033266 PMID:24055113 PMID:24271014 PMID:24412076 PMID:25088526 PMID:25281918 PMID:25525159 PMID:25599672 PMID:25637381 PMID:25741868 PMID:25862857 PMID:26332594 PMID:26467025 PMID:26540169 PMID:26703369 PMID:27153395 PMID:27174333 PMID:27600092 PMID:27884173 PMID:28065512 PMID:28127866 PMID:28178598 PMID:28397210 PMID:28492532 PMID:28968464 PMID:29476190 PMID:29500070 PMID:29801666 PMID:31586081 PMID:32078667 PMID:32860008, PMID:10823953, PMID:20639436 RGD:1580521, RGD:11568662 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:31,816,480...31,852,239
Ensembl chr  X:31,816,436...31,851,715 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    syndrome 7744
      primary immunodeficiency disease 2530
        lymphoproliferative syndrome 773
          Lymphangiomyoma 13
            lymphangioleiomyomatosis 13
Path 2
Term Annotations click to browse term
  disease 16977
    disease of anatomical entity 16343
      Immune & Inflammatory Diseases 3717
        immune system disease 3075
          lymphatic system disease 1198
            lymphoproliferative syndrome 773
              Lymphangiomyoma 13
                lymphangioleiomyomatosis 13
paths to the root