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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:exostosis
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Accession:DOID:203 term browser browse the term
Definition:Benign hypertrophy that projects outward from the surface of bone, often containing a cartilaginous component.
Synonyms:exact_synonym: bony outgrowth;   exostoses;   orbital exostosis;   swimmer's exostosis
 primary_id: MESH:D005096
 alt_id: RDO:0001002
 xref: ICD10CM:M27.8;   ICD9CM:726.91;   NCI:C3029
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
exostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Exostoses ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name 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, PMID:17164305, PMID:18559376, PMID:25741868, PMID:28492532 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
JBrowse link
hereditary multiple exostoses term browser
Symbol Object Name 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: Multiple exostoses
ClinVar Annotator: match by term: MULTIPLE OSTEOCHONDROMAS
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
PMID:1816274, PMID:7550340, PMID:8981950, PMID:9150727, PMID:9326317, PMID:9463333, PMID:9521425, PMID:9620772, PMID:10639137, PMID:10679296, PMID:10679937, PMID:10713884, PMID:11169766, PMID:11170095, PMID:11342960, PMID:11391482, PMID:11432960, PMID:11668521, PMID:12032595, PMID:12239711, PMID:12490068, PMID:15221792, PMID:15253765, PMID:15586175, PMID:16088908, PMID:16283885, PMID:17041877, PMID:17301954, PMID:17589361, PMID:18165274, PMID:18330718, PMID:18373409, PMID:18976157, PMID:19344451, PMID:19810120, PMID:19839753, PMID:20025490, PMID:20080592, PMID:20418910, PMID:21039224, PMID:21280143, PMID:21499719, PMID:21520333, PMID:21703028, PMID:22258776, PMID:22382802, PMID:22913777, PMID:23262345, PMID:23439489, PMID:23629877, PMID:24120389, PMID:24496678, PMID:24532482, PMID:24728327, PMID:25230886, PMID:25468659, PMID:25541963, PMID:25741868, PMID:26239617, PMID:26515642, PMID:26622573, PMID:26690531, PMID:26961984, PMID:28492532, PMID:28690282, PMID:29126381, PMID:29529714, PMID:29620724, PMID:29989442, PMID:30311386, PMID:30334991, PMID:8981950, PMID:17767039, PMID:17767039, PMID:25421355, PMID:12490068, PMID:24297320, PMID:18330718, PMID:26839764 RGD:1598916, RGD:13208236, RGD:13208236, RGD:13208234, RGD:13208233, RGD:13208229, RGD:13208228, RGD:13208227 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23439489 NCBI chr 3:82,602,784...82,734,557
Ensembl chr 3:82,602,785...82,734,533
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name 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, PMID:25803036, PMID:26467025, PMID:26508570, PMID:26633545, PMID:28242392, PMID:28492532, PMID:29271572, PMID:29901129, PMID:30311386 NCBI chr 5:155,812,096...155,913,751 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 5:155,914,517...155,922,269
Ensembl chr 5:155,914,735...155,916,893
JBrowse link
metachondromatosis term browser
Symbol Object Name 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:1258892, PMID:1543375, PMID:4025385, PMID:4386970, PMID:8530013, PMID:9222968, PMID:11704759, PMID:11992261, PMID:12058348, PMID:12161469, PMID:12161596, PMID:12634870, PMID:12717436, PMID:12960218, PMID:14634749, PMID:14644997, PMID:14961557, PMID:14974085, PMID:15001945, PMID:15009076, PMID:15121796, PMID:15240615, PMID:15248152, PMID:15389709, PMID:15520399, PMID:15539800, PMID:15712196, PMID:15723289, PMID:15761018, PMID:15834506, PMID:15928039, PMID:15929108, PMID:15948193, PMID:15956085, PMID:15985475, PMID:15987685, PMID:15996221, PMID:16053901, PMID:16124853, PMID:16263833, PMID:16338218, PMID:16358218, PMID:16377799, PMID:16399795, PMID:16498234, PMID:16523510, PMID:16638574, PMID:16679933, PMID:16804314, PMID:17020470, PMID:17056636, PMID:17143285, PMID:17222357, PMID:17339163, PMID:17361219, PMID:17497712, PMID:17515436, PMID:17546245, PMID:17661820, PMID:17935252, PMID:18253957, PMID:18331608, PMID:18372317, PMID:18373317, PMID:18470943, PMID:18678287, PMID:18758896, PMID:18759865, PMID:18849586, PMID:18854871, PMID:19020799, PMID:19054014, PMID:19077116, PMID:19133693, PMID:19174044, PMID:19206169, PMID:19352411, PMID:19449407, PMID:19467855, PMID:19509418, PMID:19725129, PMID:19737548, PMID:19768645, PMID:19825837, PMID:19864201, PMID:20186801, PMID:20308328, PMID:20493809, PMID:20535210, PMID:20577567, PMID:20718194, PMID:20883402, PMID:20979190, PMID:21321969, PMID:21339643, PMID:21340158, PMID:21365175, PMID:21365683, PMID:21396583, PMID:21407260, PMID:21500339, PMID:21533187, PMID:21567923, PMID:21590266, PMID:21747628, PMID:21910245, PMID:21934682, PMID:22190897, PMID:22315187, PMID:22411627, PMID:22465605, PMID:22555271, PMID:22585553, PMID:22681964, PMID:22781091, PMID:22822385, PMID:22923420, PMID:23312806, PMID:23317994, PMID:23334668, PMID:23457302, PMID:23513489, PMID:23584145, PMID:23673659, PMID:23726368, PMID:23756559, PMID:23771920, PMID:23813970, PMID:24033266, PMID:24037001, PMID:24183200, PMID:24401936, PMID:24451042, PMID:24628801, PMID:24728327, PMID:24754368, PMID:24767283, PMID:24775816, PMID:24803665, PMID:24820750, PMID:24935154, PMID:25231023, PMID:25326637, PMID:25337068, PMID:25500235, PMID:25544017, PMID:25595571, PMID:25612910, PMID:25731833, PMID:25741868, PMID:25741869, PMID:25862627, PMID:25884655, PMID:25912702, PMID:25917897, PMID:26206283, PMID:26249544, PMID:26297936, PMID:26337637, PMID:26467025, PMID:26785492, PMID:26817465, PMID:26822237, PMID:26918529, PMID:27153395, PMID:27238887, PMID:27353043, PMID:27484170, PMID:27521173, PMID:27619028, PMID:27626068, PMID:27659786, PMID:28051113, PMID:28074573, PMID:28483241, PMID:28492532, PMID:28628100, PMID:28650561, PMID:28681392, PMID:28957739, PMID:29276006, PMID:29493581, PMID:30311386, PMID:32581362, PMID:32860008, PMID:32963807 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr12:40,877,578...40,882,032
Ensembl chr12:40,877,613...40,881,124
JBrowse link
Multiple Exostoses Type I term browser
Symbol Object Name 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, PMID:10639137, PMID:10679296, PMID:10679937, PMID:10713884, PMID:11391482, PMID:11432960, PMID:15253765, PMID:16283885, PMID:17041877, PMID:18165274, PMID:18330718, PMID:19810120, PMID:20418910, PMID:22258776, PMID:23439489, PMID:25230886, PMID:25741868, PMID:26239617, PMID:26515642, PMID:26961984, PMID:28492532, PMID:29126381 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
JBrowse link
Multiple Exostoses Type II term browser
Symbol Object Name 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, PMID:10679937, PMID:10713884, PMID:10750558, PMID:11169766, PMID:11170095, PMID:11432960, PMID:11668521, PMID:12239711, PMID:12490068, PMID:15221792, PMID:15586175, PMID:15796962, PMID:16088908, PMID:16283885, PMID:17041877, PMID:17301954, PMID:17589361, PMID:18165274, PMID:18373409, PMID:18666861, PMID:18976157, PMID:19309273, PMID:19344451, PMID:19504431, PMID:19810120, PMID:19839753, PMID:20425833, PMID:21520333, PMID:22382802, PMID:22820392, PMID:23262345, PMID:23439489, PMID:23629877, PMID:24496678, PMID:24532482, PMID:24728327, PMID:24728384, PMID:25230886, PMID:25449079, PMID:25468659, PMID:25591329, PMID:25741868, PMID:25744876, PMID:26246518, PMID:26961984, PMID:28492532, PMID:28690282, PMID:28849184, PMID:29126381, PMID:29529714, PMID:30075207, PMID:30288735, PMID:30334991, PMID:30997052 NCBI chr 3:82,602,784...82,734,557
Ensembl chr 3:82,602,785...82,734,533
JBrowse link
Osteophytes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 IEP associated with Acromegaly RGD PMID:10499542 RGD:10003127 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Igf1 insulin-like growth factor 1 IEP associated with Acromegaly RGD PMID:10499542 RGD:10003127 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
Stuve-Wiedemann Syndrome term browser
Symbol Object Name 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 5:155,812,096...155,913,751 JBrowse link
G Il6st interleukin 6 signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
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:14740318, PMID:19603067, PMID:24033266, PMID:24988918, PMID:25326635, PMID:25540807, PMID:25741868, PMID:26752647, PMID:28334964, PMID:28492532 NCBI chr 2:56,424,910...56,489,346
Ensembl chr 2:56,426,367...56,489,415
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        bone disease 3526
          bone remodeling disease 428
            hyperostosis 42
              exostosis 12
                Exostoses with Anetodermia and Brachydactyly Type E 0
                Osteophytes 2
                Subungual Exostoses 0
                Torus Palatinus and Torus Mandibularis 0
                heel spur 0
                hereditary multiple exostoses + 9
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          bone disease 3526
            bone remodeling disease 428
              hyperostosis 42
                exostosis 12
                  Exostoses with Anetodermia and Brachydactyly Type E 0
                  Osteophytes 2
                  Subungual Exostoses 0
                  Torus Palatinus and Torus Mandibularis 0
                  heel spur 0
                  hereditary multiple exostoses + 9
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.