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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.


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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 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814
G JAG2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr 8:72,535,539...72,553,531
Ensembl chr 8:72,535,107...72,550,322
JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) treatment ISO RGD PMID:23035046 RGD:8693678 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G PKM pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr30:35,712,853...35,737,643 JBrowse link
G SRF serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chr12:11,664,441...11,673,846
Ensembl chr12:11,664,527...11,671,533
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G TSC1 TSC complex subunit 1 ISO OMIM NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677
JBrowse link
G TSC2 TSC complex subunit 2 ISO OMIM NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
JBrowse link
G VEGFD vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:11,590,097...11,627,199
Ensembl chr  X:11,590,089...11,626,486
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13760
    syndrome 7177
      primary immunodeficiency disease 2271
        lymphoproliferative syndrome 724
          Lymphangiomyoma 13
            lymphangioleiomyomatosis 13
Path 2
Term Annotations click to browse term
  disease 13760
    disease of cellular proliferation 6541
      cancer 4684
        organ system cancer 4529
          cardiovascular cancer 37
            vascular cancer 37
              perivascular tumor 18
                perivascular epithelioid cell tumor 16
                  lymphangioleiomyomatosis 13
paths to the root