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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:hereditary multiple exostoses
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Accession:DOID:206 term browser browse the term
Definition:Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.
Synonyms:exact_synonym: Bessel-Hagen disease;   Diaphyseal Aclasis;   Familial Exostoses;   Familial Exostosis;   HEREDITARY MULTIPLE OSTEOCHONDROMATOSIS;   Hereditary Deforming Chondrodysplasia;   Hereditary Deforming Chondrodysplasias;   Hereditary Multiple Exostosis;   Multiple Cartilaginous Exostosis;   Multiple Exostoses;   Multiple Exostosis;   Multiple Osteochondroma;   Multiple congenital exostosis;   diaphyseal aclases;   multiple cartilaginous exostoses;   multiple exostosis syndromes;   multiple ostechondromas;   multiple osteochondromas;   multiple osteochondromatosis;   osteochondromatosis syndrome
 primary_id: MESH:D005097
 alt_id: RDO:0000463
 xref: ICD10CM:Q78.6;   NCI:C5183;   ORDO:321
For additional species annotation, visit the Alliance of Genome Resources.


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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: Hereditary multiple exostosis
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:30806661, 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
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
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:9491886 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:16078230 PMID:16124853 PMID:16263833 PMID:16338218 PMID:16358218 PMID:16377799 PMID:16399795 PMID:16498234 PMID:16638574 PMID:16679933 PMID:16804314 PMID:17020470 PMID:17143285 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:19352411 PMID:19449407 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:21407260 PMID:21533187 PMID:21567923 PMID:21590266 PMID:21706501 PMID:21747628 PMID:21901340 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:25585602 PMID:25595571 PMID:25612910 PMID:25731833 PMID:25741868 PMID:25741869 PMID:25862627 PMID:25884655 PMID:25912702 PMID:25917897 PMID:26206283 PMID:26337637 PMID:26467025 PMID:26785492 PMID:26817465 PMID:26822237 PMID:26918529 PMID:27153395 PMID:27238887 PMID:27353043 PMID:27484170 PMID:27521173 PMID:27626068 PMID:27659786 PMID:28051113 PMID:28074573 PMID:28363362 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:24532482 PMID:25230886 PMID:25468659 PMID:25741868 PMID:26239617 PMID:26515642 PMID:26961984 PMID:28492532 PMID:29126381 PMID:30806661 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:30288735 PMID:30334991 PMID:30806661 PMID:30997052 NCBI chr 3:82,602,784...82,734,557
Ensembl chr 3:82,602,785...82,734,533
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 16085
    syndrome 7041
      Hereditary Neoplastic Syndromes 811
        hereditary multiple exostoses 9
          Dermochondrocorneal Dystrophy of François 0
          Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 0
          Exostoses of Heel 0
          Intestinal Polyposis, with Multiple Exostoses 0
          Kniest Like Dysplasia Lethal 2
          Metaphyseal Acroscyphodysplasia 0
          Multiple Exostoses Type I 1
          Multiple Exostoses Type II 1
          Multiple Exostoses Type III 0
          Multiple Exostoses with Spastic Tetraparesis 0
          Potocki-Shaffer syndrome 0
          Stuve-Wiedemann Syndrome 3
          chondrodysplasia Blomstrand type 1
          metachondromatosis 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              osteochondrodysplasia 449
                Osteochondroma 9
                  Osteochondromatosis 9
                    hereditary multiple exostoses 9
                      Dermochondrocorneal Dystrophy of François 0
                      Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 0
                      Exostoses of Heel 0
                      Intestinal Polyposis, with Multiple Exostoses 0
                      Kniest Like Dysplasia Lethal 2
                      Metaphyseal Acroscyphodysplasia 0
                      Multiple Exostoses Type I 1
                      Multiple Exostoses Type II 1
                      Multiple Exostoses Type III 0
                      Multiple Exostoses with Spastic Tetraparesis 0
                      Potocki-Shaffer syndrome 0
                      Stuve-Wiedemann Syndrome 3
                      chondrodysplasia Blomstrand type 1
                      metachondromatosis 2
paths to the root