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
Accession: DOID:9007091
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
xref: EFO:1001027
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
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
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
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
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
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
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
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
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
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
G
Nthl1
nth-like DNA glycosylase 1
ISO
ClinVar Annotator: match by term: Lymphangiomyomatosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957
G
Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Lymphangiomyomatosis
ClinVar
PMID:25741868
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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
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
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
G
Srf
serum response factor
ISO
RGD
PMID:12654640
RGD:1580753
NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
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
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
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:9536098 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10090883 PMID:10227394 PMID:10353610 PMID:10363127 PMID:10533066 PMID:10533067 PMID:10533069 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:17576681 PMID:18032745 PMID:18772611 PMID:18830229 PMID:19419980 PMID:19747374 PMID:20399389 PMID:20547222 PMID:21309039 PMID:21510812 PMID:21520333 PMID:21624971 PMID:21811971 PMID:22161988 PMID:22490766 PMID:22558107 PMID:22703879 PMID:22707517 PMID:22903760 PMID:22923433 PMID:23254740 PMID:23401075 PMID:23514105 PMID:24033266 PMID:24633152 PMID:24728327 PMID:25525159 PMID:25722345 PMID:25741868 PMID:25900779 PMID:26231267 PMID:26467025 PMID:26540169 PMID:26580448 PMID:27061015 PMID:27425891 PMID:27494029 PMID:28087349 PMID:28492532 PMID:28614114 PMID:29221145 PMID:29286531 PMID:29619247 PMID:29641532 PMID:29655203 PMID:29684080 PMID:29932062 PMID:29960980 PMID:30842500 PMID:32078667 More...
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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 PMID:9412784 PMID:9463313 PMID:9536098 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:12015165 PMID:12062115 PMID:12086608 PMID:12111193 PMID:12136241 PMID:12235314 PMID:12752578 PMID:14641237 PMID:14756965 PMID:14993219 PMID:15024740 PMID:15072102 PMID:15483652 PMID:15595939 PMID:15798777 PMID:15874888 PMID:15963462 PMID:16032769 PMID:16114042 PMID:16129702 PMID:16199547 PMID:16464865 PMID:16554133 PMID:16981987 PMID:17034546 PMID:17120248 PMID:17304050 PMID:17536269 PMID:17576681 PMID:18032745 PMID:18302728 PMID:18308511 PMID:18792920 PMID:18854862 PMID:19254590 PMID:19259131 PMID:19369101 PMID:19747374 PMID:19823873 PMID:20108343 PMID:20165957 PMID:20399389 PMID:20633017 PMID:21252315 PMID:21309039 PMID:21332470 PMID:21407264 PMID:21510812 PMID:21520333 PMID:21624971 PMID:21811971 PMID:21910228 PMID:22343534 PMID:22552000 PMID:22558107 PMID:22703879 PMID:22805177 PMID:22867869 PMID:22903760 PMID:23006675 PMID:23217510 PMID:23254740 PMID:23389244 PMID:23504366 PMID:23514105 PMID:23955302 PMID:24033266 PMID:24055113 PMID:24271014 PMID:24412076 PMID:24728327 PMID:25039834 PMID:25058500 PMID:25088526 PMID:25231023 PMID:25281918 PMID:25338684 PMID:25432535 PMID:25498131 PMID:25525159 PMID:25599672 PMID:25637381 PMID:25741868 PMID:25862857 PMID:25927202 PMID:26155992 PMID:26332594 PMID:26467025 PMID:26489027 PMID:26540169 PMID:26633542 PMID:26703369 PMID:27153395 PMID:27174333 PMID:27176796 PMID:27406250 PMID:27493206 PMID:27600092 PMID:27757534 PMID:27859028 PMID:27884173 PMID:27930734 PMID:28065512 PMID:28087349 PMID:28127866 PMID:28149746 PMID:28178598 PMID:28250423 PMID:28397210 PMID:28409891 PMID:28492532 PMID:28505269 PMID:28968464 PMID:29167182 PMID:29196670 PMID:29271092 PMID:29286531 PMID:29308833 PMID:29344138 PMID:29476190 PMID:29500070 PMID:29641532 PMID:29655203 PMID:29684080 PMID:29801666 PMID:30255984 PMID:30712878 PMID:30986793 PMID:31005478 PMID:31018109 PMID:31370276 PMID:31525612 PMID:31586081 PMID:31591157 PMID:31875159 PMID:32078667 PMID:32211034 PMID:32313033 PMID:32410215 PMID:32502382 PMID:32555378 PMID:32860008 PMID:34070849 PMID:10823953 PMID:20639436 More...
RGD:1580521 , RGD:11568662
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all