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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:chondroma
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Accession:DOID:2602 term browser browse the term
Definition:A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. (DO)
Synonyms:exact_synonym: Chondromas;   Enchondroma;   Enchondromas;   central chondroma
 primary_id: MESH:D002812
 xref: GARD:6052;   ICDO:9220/0;   NCI:C3007;   NCI:C53459
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
chondroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chrNW_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chrNW_004936483:15,845,777...15,864,341
Ensembl chrNW_004936483:15,845,792...15,864,341 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO RGD PMID:26091072 RGD:12910968 NCBI chrNW_004936569:1,474,693...1,480,562
Ensembl chrNW_004936569:1,474,665...1,480,568 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) RGD PMID:20577567 RGD:11069623 NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO RGD PMID:26091072 RGD:12910968 NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281 		JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chrNW_004936815:1,148,963...1,167,585
Ensembl chrNW_004936815:1,148,963...1,167,568 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chrNW_004936474:3,993,224...4,021,359
Ensembl chrNW_004936474:3,990,778...4,021,423 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chrNW_004936903:592,641...636,845
Ensembl chrNW_004936903:601,355...636,092 		JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chrNW_004936596:649,887...655,110
Ensembl chrNW_004936596:649,875...655,110 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type OMIM
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213 		JBrowse link
hereditary multiple exostoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:29,320,937...29,325,193
Ensembl chrNW_004936470:29,321,105...29,325,192 		JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:27,178,439...27,185,554
Ensembl chrNW_004936470:27,178,621...27,185,564 		JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:27,416,471...27,449,206
Ensembl chrNW_004936470:27,416,494...27,449,206 		JBrowse link
G Eif3h eukaryotic translation initiation factor 3 subunit H ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:29,509,154...29,606,124
Ensembl chrNW_004936470:29,509,151...29,606,124 		JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:26,994,549...27,099,758
Ensembl chrNW_004936470:26,994,215...27,100,999 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... NCBI chrNW_004936470:28,303,213...28,566,470
Ensembl chrNW_004936470:28,303,828...28,566,118 		JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004936562:4,345,146...4,489,180
Ensembl chrNW_004936562:4,342,874...4,489,180 		JBrowse link
G Mal2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:27,315,356...27,390,078
Ensembl chrNW_004936470:27,315,287...27,340,799 		JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:28,798,356...28,822,143
Ensembl chrNW_004936470:28,798,649...28,817,176 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:29,377,793...29,403,422
Ensembl chrNW_004936470:29,377,734...29,407,312 		JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:27,858,661...28,230,543
Ensembl chrNW_004936470:27,858,427...28,228,114 		JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:29,114,713...29,151,993
Ensembl chrNW_004936470:29,114,713...29,151,993 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:26,871,865...26,951,804
Ensembl chrNW_004936470:26,871,847...26,951,806 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089 		JBrowse link
G Utp23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004936470:29,489,354...29,495,171
Ensembl chrNW_004936470:29,486,977...29,495,222 		JBrowse link
JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101976824 nuclear factor of activated T cells 2 ISO OMIM NCBI chrNW_004936514:3,453,475...3,579,292
Ensembl chrNW_004936514:3,467,178...3,578,882 		JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851 		JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936474:7,375,439...7,407,318 JBrowse link
metachondromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis OMIM
ClinVar		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chrNW_004936668:2,584,829...2,588,236
Ensembl chrNW_004936668:2,583,958...2,587,397 		JBrowse link
Multiple Exostoses Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I OMIM
ClinVar		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chrNW_004936470:28,303,213...28,566,470
Ensembl chrNW_004936470:28,303,828...28,566,118 		JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004936562:4,345,146...4,489,180
Ensembl chrNW_004936562:4,342,874...4,489,180 		JBrowse link
Multiple Exostoses Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 OMIM
ClinVar		 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More... NCBI chrNW_004936562:4,345,146...4,489,180
Ensembl chrNW_004936562:4,342,874...4,489,180 		JBrowse link
Osteochondroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20577567 NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		JBrowse link
Stuve-Wiedemann Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chrNW_004936480:11,867,573...11,913,563
Ensembl chrNW_004936480:11,884,582...11,909,635 		JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chrNW_004936518:3,651,630...3,693,072
Ensembl chrNW_004936518:3,652,152...3,693,078 		JBrowse link
Stuve-Wiedemann Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851 		JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1		 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chrNW_004936518:3,651,630...3,693,072
Ensembl chrNW_004936518:3,652,152...3,693,078 		JBrowse link
Stuve-Wiedemann Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936524:3,594,530...3,597,055
Ensembl chrNW_004936524:3,594,552...3,596,371 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31914175 NCBI chrNW_004936480:11,867,573...11,913,563
Ensembl chrNW_004936480:11,884,582...11,909,635 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936524:3,535,122...3,594,452
Ensembl chrNW_004936524:3,535,175...3,596,077 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14500
    disease of cellular proliferation 6831
      Neoplasms by Histologic Type 4753
        cell type benign neoplasm 1774
          chondroma 34
            Carney Triad 3
            Chondromatosis + 26
            Osteochondroma + 27
            central nervous system chondroma 0
            juxtacortical chondroma 0
            phalanx chondroma 0
            soft tissue chondroma 0
Path 2
Term Annotations click to browse term
  disease 14500
    disease of anatomical entity 14149
      musculoskeletal system disease 7410
        connective tissue disease 5036
          Connective Tissue Neoplasms 1639
            chondroma 34
              Carney Triad 3
              Chondromatosis + 26
              Osteochondroma + 27
              central nervous system chondroma 0
              juxtacortical chondroma 0
              phalanx chondroma 0
              soft tissue chondroma 0
paths to the root