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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:angiomyolipoma
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Accession:DOID:3314 term browser browse the term
Definition:A benign tumor containing vascular, adipose, and muscle elements. It occurs most often in the kidney with smooth muscle elements (angiolipoleiomyoma) in association with tuberous sclerosis. (Dorland, 27th ed)
Synonyms:exact_synonym: Angiomyolipomas
 primary_id: MESH:D018207;   RDO:0007109
 xref: NCI:C3734
For additional species annotation, visit the Alliance of Genome Resources.


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angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ogg1 8-oxoguanine DNA glycosylase no_association ISO associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)
RGD PMID:19265534, PMID:17932460, PMID:17932460 RGD:8657154, RGD:8657155, RGD:8657155 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney 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:kidney RGD PMID:15994429 RGD:2298537 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tsc2 TSC complex subunit 2 ISO associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney RGD PMID:19265534 RGD:8657154 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
hepatic angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsc2 TSC complex subunit 2 IAGP DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple
RGD PMID:29512829, PMID:22251200 RGD:21079730, RGD:21079732 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
kidney angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase treatment ISO associated with Tuberous Sclerosis RGD PMID:23054313 RGD:7245506 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    disease of cellular proliferation 6935
      benign neoplasm 1562
        cell type benign neoplasm 1388
          angiomyolipoma 6
            Renal TSC2 Angiomyolipomas, Modifier of 0
            benign mesothelioma + 0
            epithelioid type angiomyolipoma 0
            hepatic angiomyolipoma 1
            kidney angiomyolipoma + 1
Path 2
Term Annotations click to browse term
  disease 16977
    disease of cellular proliferation 6935
      Neoplasms by Histologic Type 4451
        Connective and Soft Tissue Neoplasms 1716
          Connective Tissue Neoplasms 1615
            connective tissue cancer 698
              perivascular tumor 18
                perivascular epithelioid cell tumor 16
                  angiomyolipoma 6
                    Renal TSC2 Angiomyolipomas, Modifier of 0
                    benign mesothelioma + 0
                    epithelioid type angiomyolipoma 0
                    hepatic angiomyolipoma 1
                    kidney angiomyolipoma + 1
paths to the root