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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:Fibrous Tissue Neoplasms
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Accession:DOID:9008446 term browser browse the term
Definition:Neoplasms composed of fibrous tissue, the ordinary connective tissue of the body, made up largely of yellow or white fibers. The concept does not refer to neoplasms located in fibrous tissue.
Synonyms:exact_synonym: fibrous tissue neoplasm
 primary_id: MESH:D018218
 alt_id: RDO:0005601
For additional species annotation, visit the Alliance of Genome Resources.


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Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb1 cAMP responsive element binding protein 1 ISO OMIM NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
breast fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7b Wnt family member 7B ISO RGD PMID:8168088 RGD:2291878 NCBI chr 7:126,423,418...126,465,724
Ensembl chr 7:126,420,656...126,465,723
JBrowse link
dermatofibrosarcoma protuberans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO DNA:gene fusion:exon
associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion
RGD PMID:12641779, PMID:22153773 RGD:2292195, RGD:5688300 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO DNA:gene fusion:exon
ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans
ClinVar
OMIM
PMID:28492532, PMID:12641779 RGD:2292195 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
diaphyseal medullary stenosis with malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtap methylthioadenosine phosphorylase ISO ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 PMID:16419137 PMID:22464254 PMID:25741868 PMID:28492532 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
JBrowse link
Fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO mRNA, protein:increased expression:breast RGD PMID:17254320 RGD:2293756 NCBI chr 1:220,826,560...220,835,066
Ensembl chr 1:220,826,560...220,835,066
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038752 PMID:26437033 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Rara retinoic acid receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437033 NCBI chr10:86,838,819...86,884,224
Ensembl chr10:86,860,685...86,884,210
JBrowse link
G Wnt2 Wnt family member 2 ISO mRNA:increased expression:breast RGD PMID:8168088 RGD:2291878 NCBI chr 4:45,286,845...45,332,899
Ensembl chr 4:45,292,437...45,332,420
JBrowse link
G Wnt4 Wnt family member 4 ISO breast fibroadenoma RGD PMID:8168088 RGD:2291878 NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
JBrowse link
fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 PMID:14508707, PMID:14508707 RGD:1599125 NCBI chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit IMP RGD PMID:18456653 RGD:9586716 NCBI chr 6:137,762,230...137,808,573
Ensembl chr 6:137,765,122...137,808,303
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
JBrowse link
Fibromatosis, Abdominal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686957 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
fibrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISO RGD PMID:17971488 RGD:5688275 NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
G Egr1 early growth response 1 ISO human tumor line expressing mouse gene in mouse model RGD PMID:7585551 RGD:5131944 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO RGD PMID:11238917 RGD:11567233 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601955 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Serpine1 serpin family E member 1 severity ISO RGD PMID:11059781 RGD:8547752 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tert telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO human gene in mouse model RGD PMID:10753499 RGD:5131435 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfhas1 malignant fibrous histiocytoma amplified sequence 1 ISO RGD PMID:9973190 RGD:1599928 NCBI chr16:60,120,457...60,208,550
Ensembl chr16:60,128,201...60,208,462
JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chr 1:205,745,119...205,750,786
Ensembl chr 1:205,745,119...205,750,786
JBrowse link
hereditary desmoid disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Desmoid disease, hereditary
ClinVar Annotator: match by OMIM:135290
OMIM
ClinVar
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1944466 PMID:8162022 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8730280 PMID:8844222 PMID:8940264 PMID:8990002 PMID:9342373 PMID:9664575 PMID:9824584 PMID:9950360 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12901799 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16292097 PMID:16317745 PMID:16461775 PMID:17293347 PMID:17411426 PMID:17489848 PMID:17785554 PMID:17963004 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20301519 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21859464 PMID:21901162 PMID:22135120 PMID:22431159 PMID:22703879 PMID:23159591 PMID:23970361 PMID:24033266 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25186627 PMID:25203624 PMID:25479140 PMID:25525159 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25992589 PMID:26138249 PMID:26300997 PMID:26320869 PMID:26446593 PMID:26467025 PMID:26493165 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26845104 PMID:26976419 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27600092 PMID:27878467 PMID:27978560 PMID:28135145 PMID:28492532 PMID:28608266 PMID:28873162 PMID:29122597 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:30267214 PMID:30374176 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31428572 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: DESMOID TUMOR CAUSED BY SOMATIC MUTATION ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:26619011 PMID:26822237 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klrk1 killer cell lectin like receptor K1 treatment IDA RGD PMID:15048723 RGD:9685182 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
Hyperparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt2 Beta-1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 ClinVar PMID:25637381 NCBI chr13:60,435,946...60,444,957
Ensembl chr13:60,435,946...60,444,957
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hyperparathyroidism 2
ClinVar Annotator: match by term: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY
ClinVar
OMIM
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
JBrowse link
infantile myofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Infantile myofibromatosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12181311 PMID:23731537 PMID:23731542 PMID:25158255 PMID:25292412 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28492532 PMID:28639748 PMID:31017643 PMID:31474318 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
Infantile Myofibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Infantile myofibromatosis 1 ClinVar PMID:23731542 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Infantile myofibromatosis 1
ClinVar Annotator: match by OMIM:228550
OMIM
ClinVar
PMID:12181311 PMID:15054839 PMID:23731537 PMID:23731542 PMID:25158255 PMID:25292412 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28492532 PMID:28639748 PMID:31474318 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
Infantile Myofibromatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Infantile myofibromatosis 2 OMIM
ClinVar
PMID:23731542 PMID:25741868 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppargc1a PPARG coactivator 1 alpha treatment ISO human cell line in mouse model RGD PMID:23166610 RGD:7242013 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
Multiple Fibroadenomas of the Breast term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prlr prolactin receptor ISO ClinVar Annotator: match by OMIM:615554 OMIM
ClinVar
PMID:18779591 NCBI chr 2:60,131,410...60,325,686
Ensembl chr 2:60,131,776...60,325,692
JBrowse link
Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ClinVar
OMIM
PMID:3152525 PMID:3152526 PMID:12522257 PMID:14645423 PMID:14699510 PMID:15928335 PMID:16954519 PMID:17087936 PMID:17087943 PMID:17566086 PMID:22745105 PMID:25157968 PMID:25741868 PMID:28492532 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
neurofibrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdr kinase insert domain receptor ISO RGD PMID:10554031 RGD:8552377 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Mxi1 MAX interactor 1, dimerization protein ISO ClinVar Annotator: match by null ClinVar PMID:10470286, PMID:10470286 RGD:1600205 NCBI chr 1:274,030,748...274,090,071
Ensembl chr 1:274,030,978...274,090,071
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16239399 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:peripheral nerve RGD PMID:10554031 RGD:8552377 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
ossifying fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
JBrowse link
Solitary Fibrous Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nab2 Ngfi-A binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313952 PMID:23313954 NCBI chr 7:70,963,580...70,971,471
Ensembl chr 7:70,961,575...70,969,905
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313952 PMID:23313954 NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
JBrowse link
subserous uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr 7:121,930,610...122,147,934
Ensembl chr 7:121,930,615...122,147,934
JBrowse link
uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bet1l Bet1 golgi vesicular membrane trafficking protein-like ISO DNA:SNP:rs2280543(human) RGD PMID:23892540 RGD:14394614 NCBI chr 1:213,602,836...213,606,507
Ensembl chr 1:213,602,850...213,605,643
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377
JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chr 7:65,159,944...65,275,408
Ensembl chr 7:65,159,944...65,275,408
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr 7:121,930,610...122,147,934
Ensembl chr 7:121,930,615...122,147,934
JBrowse link
G Tsc2 TSC complex subunit 2 ISS OMIM:150699 MouseDO NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
uterus interstitial leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l1 Bcl2-like 1 ISO associated with Carcinoma, Renal Cell;protein:increased expression:uterus RGD PMID:16962107 RGD:1643479 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      musculoskeletal system disease 6301
        connective tissue disease 4386
          Connective Tissue Neoplasms 1616
            Fibrous Tissue Neoplasms 47
              Fibroepithelial Neoplasms + 7
              Myofibromatosis + 2
              Solitary Fibrous Tumors + 2
              fibroma + 19
              fibrosarcoma + 13
              histiocytoma + 6
paths to the root