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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:Adipose Tissue Neoplasms
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Accession:DOID:9008378 term browser browse the term
Definition:Neoplasms composed of fatty tissue or connective tissue made up of fat cells in a meshwork of areolar tissue. The concept does not refer to neoplasms located in adipose tissue.
Synonyms:exact_synonym: Adipose Tissue Neoplasm
 primary_id: MESH:D018205
 alt_id: RDO:0006016


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adenomatoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf7 TNF receptor associated factor 7 ISO DNA:missense mutations:multiple RGD PMID:29148537 RGD:151356962 NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203 		JBrowse link
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 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 9:49,419,561...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:kidney RGD PMID:15994429 RGD:2298537 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		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 chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi ClinVar PMID:25741868 PMID:27476652 NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO
ISS		 ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
OMIM:612918
CTD Direct Evidence: marker/mechanism
DNA: missense mutations: exon :p.H1047R, p.H1047L		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... RGD:13207409 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: CLOVES syndrome ClinVar PMID:25741868 PMID:34040190 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
corpus callosum lipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Corpus callosum lipoma ClinVar PMID:25741868 NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705 		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 chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		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 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
Lipoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plag1 PLAG1 zinc finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:16308870 NCBI chr 5:16,902,057...16,956,727
Ensembl chr 5:16,905,394...16,913,647 		JBrowse link
lipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO RGD PMID:7606786 RGD:1601567 NCBI chr 7:55,877,145...55,998,813
Ensembl chr 7:55,880,112...55,994,784 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Lipoma, somatic ClinVar PMID:9103196 PMID:9215690 PMID:9463336 PMID:9498491 PMID:9671267 More... NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
liposarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk4 cyclin-dependent kinase 4 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20601955 PMID:23569312 NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: therapeutic CTD PMID:20372807 NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261 		JBrowse link
G Fus Fus RNA binding protein ISO RGD PMID:20332486 RGD:5509913 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414 		JBrowse link
G Il22 interleukin 22 ISS MouseDO NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186 		JBrowse link
G Mir155 microRNA 155 disease_progression ISO RGD PMID:28036291 RGD:25314299 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601955 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Yeats4 YEATS domain containing 4 ISO CTD Direct Evidence: therapeutic CTD PMID:20601955 NCBI chr 7:52,858,313...52,865,454
Ensembl chr 7:52,858,305...52,865,635 		JBrowse link
myxoid liposarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddit3 DNA-damage inducible transcript 3 ISO DNA:translocation: ;t(12;16)(q13;p11)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:1283316 PMID:7503811 PMID:8510758 PMID:1283316 RGD:1599726 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Fus Fus RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:7503811 PMID:8510758 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414 		JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdbf2 zinc finger, DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of cellular proliferation 7914
      Neoplasms by Histologic Type 5403
        Connective and Soft Tissue Neoplasms 1921
          Adipose Tissue Neoplasms 24
            Myelolipoma 0
            angiolipoma + 0
            angiomyolipoma + 7
            lipoma + 10
            liposarcoma + 8
paths to the root