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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 benign neoplasm derived from mesodermal cells that form cartilage. It may remain within the substance of a cartilage or bone (true chondroma or enchondroma) or may develop on the surface of a cartilage (ecchondroma or ecchondrosis). (Dorland, 27th ed; Stedman, 25th ed)
Synonyms:exact_synonym: Chondromas;   Enchondroma;   Enchondromas;   central Chondroma
 primary_id: MESH:D002812;   RDO:0005200
 xref: GARD:6052;   NCI:C53459
For additional species annotation, visit the Alliance of Genome Resources.



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 chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO RGD PMID:26091072 RGD:12910968 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO RGD PMID:26091072 RGD:12910968 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
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: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by OMIM:215045
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
ClinVar
OMIM
PMID:3975110 PMID:9268097 PMID:9649554 PMID:9745456 PMID:10523019 More... NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
JBrowse link
hereditary multiple exostoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar Annotator: match by term: Hereditary multiple exostosis
ClinVar Annotator: match by term: Multiple exostoses
DNA:missense mutation:cds:p.Y271H (human)
DNA:frameshift mutation:cds:p.S442IfsX1 (human)
DNA:frameshift mutation:cds:p.K218fsX247 (human)
DNA:nonsense mutation:cds:p.Y634X (human)
DNA:missense mutation, frameshift mutation:cds:p.R340L, p.K177KfsX15 (human)
DNA:deletion:cds:p.V545_E574del (human)
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... RGD:1598916, RGD:13208236, RGD:13208236, RGD:13208234, RGD:13208233, RGD:13208229, RGD:13208228, RGD:13208227 NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple congenital exostosis
CTD
ClinVar
PMID:23439489 NCBI chr 3:79,665,415...79,798,077
Ensembl chr 3:79,665,415...79,798,059
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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:11279527 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 More... NCBI chr 5:149,677,437...149,778,594 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 chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
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
ClinVar Annotator: match by OMIM:156250
OMIM
ClinVar
PMID:9491886 PMID:11704759 PMID:11992261 PMID:12058348 PMID:12161469 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar PMID:28492532 NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921
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:9521425 PMID:9620772 More... NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
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: Multiple exostoses type 2
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II
ClinVar Annotator: match by OMIM:133701
OMIM
ClinVar
PMID:8894688 PMID:9326317 PMID:9463333 PMID:10480354 PMID:10671060 More... NCBI chr 3:79,665,415...79,798,077
Ensembl chr 3:79,665,415...79,798,059
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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
Osteochondromatosis 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: OSTEOCHONDROMATOSIS ClinVar PMID:7550340 PMID:8981950 PMID:9326317 PMID:9521425 PMID:9620772 More... NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO Osteochondromatosis OMIA PMID:10850165 PMID:23847091 NCBI chr 3:79,665,415...79,798,077
Ensembl chr 3:79,665,415...79,798,059
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 NCBI chr 5:149,677,437...149,778,594 JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome
ClinVar Annotator: match by term: Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
ClinVar PMID:25741868 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome
ClinVar Annotator: match by OMIM:601559
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:14740318 PMID:17576681 PMID:19603067 PMID:24033266 More... NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of cellular proliferation 7049
      Neoplasms by Histologic Type 4773
        cell type benign neoplasm 1749
          chondroma 16
            Carney Triad 3
            Chondromatosis + 9
            Osteochondroma + 9
            central nervous system chondroma 0
            extraskeletal chondroma 0
            juxtacortical chondroma 0
            phalanx chondroma 0
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      musculoskeletal system disease 6446
        connective tissue disease 4432
          Connective Tissue Neoplasms 1621
            chondroma 16
              Carney Triad 3
              Chondromatosis + 9
              Osteochondroma + 9
              central nervous system chondroma 0
              extraskeletal chondroma 0
              juxtacortical chondroma 0
              phalanx chondroma 0
paths to the root