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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:lymphangioleiomyomatosis
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Accession:DOID:3319 term browser browse the term
Definition:A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas. (DO)
Synonyms:exact_synonym: LAM;   lung lymphangioleiomyomatosis;   lymphangioleiomyomatoses;   lymphangiomyomatoses;   lymphangiomyomatosis;   pulmonary lymphangioleiomyomatosis
 narrow_synonym: somatic lymphangioleiomyomatosis
 primary_id: MESH:D018192
 alt_id: OMIM:606690
 xref: GARD:3319;   NCI:C3725;   NCI:C38153;   ORDO:538
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 Acss2 acyl-CoA synthetase short-chain family member 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:18285421 RGD:4892300 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Gls glutaminase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr 6:131,983,056...132,005,359
Ensembl chr 6:131,983,056...132,005,818
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:23035046 RGD:8693678 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599
JBrowse link
G Rictor RPTOR independent companion of MTOR, complex 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426
JBrowse link
G Slc16a1 solute carrier family 16 member 1 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
JBrowse link
G Srf serum response factor ISO
ISS
OMIM:606690 MouseDO
RGD
PMID:12654640 RGD:1580753 NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lymphangiomyomatosis
OMIM
CTD
ClinVar
PMID:5279523 PMID:9242607 PMID:9328481 PMID:9803264 PMID:9863590 More... NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
JBrowse link
G Tsc2 TSC complex subunit 2 ISO DNA:loss of heterozygosity
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangiomyomatosis
OMIM
CTD
ClinVar
RGD
PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More... RGD:1580521, RGD:11568662 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
G Vegfd vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:30,073,122...30,108,413
Ensembl chr  X:30,074,163...30,108,295
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    syndrome 9691
      primary immunodeficiency disease 3832
        lymphoproliferative syndrome 901
          Lymphangiomyoma 19
            lymphangioleiomyomatosis 19
Path 2
Term Annotations click to browse term
  disease 18145
    disease of cellular proliferation 7314
      cancer 5314
        organ system cancer 5157
          cardiovascular cancer 44
            vascular cancer 44
              perivascular tumor 24
                perivascular epithelioid cell tumor 23
                  lymphangioleiomyomatosis 19
paths to the root