Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
Accession:DOID:206 term browser browse the term
Definition:An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth. (DO)
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;   diaphyseal aclases;   multiple cartilaginous exostoses;   multiple congenital exostosis;   multiple exostosis syndromes;   multiple ostechondromas;   multiple osteochondromas;   multiple osteochondromatosis;   osteochondromatosis syndrome
 primary_id: MESH:D005097
 xref: EFO:0005560;   ICD10CM:Q78.6;   NCI:C5183;   ORDO:321
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:
hereditary multiple exostoses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:25,218,613...25,225,755 JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:24,954,969...24,994,188
Ensembl chrNW_004955417:24,954,938...24,994,188 		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_004955417:22,757,781...22,846,349
Ensembl chrNW_004955417:22,754,395...22,846,618 		JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:25,308,424...25,384,307
Ensembl chrNW_004955417:25,308,361...25,384,443 		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_004955417:23,798,044...24,067,759
Ensembl chrNW_004955417:23,798,393...24,067,100 		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_004955422:3,303,948...3,438,381
Ensembl chrNW_004955422:3,304,842...3,447,908 		JBrowse link
G Mal2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:25,069,847...25,096,132 JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:23,538,984...23,557,837
Ensembl chrNW_004955417:23,538,809...23,559,611 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:22,941,549...22,966,395
Ensembl chrNW_004955417:22,941,479...22,966,837 		JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:24,137,340...24,541,572
Ensembl chrNW_004955417:24,145,264...24,541,599 		JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:23,207,146...23,239,170
Ensembl chrNW_004955417:23,207,146...23,236,874 		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_004955417:25,457,615...25,515,923 JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:24,804,708...24,831,338
Ensembl chrNW_004955417:24,804,664...24,831,894 		JBrowse link
G Utp23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chrNW_004955417:22,859,914...22,867,633 JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name 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_004955420:25,308,513...25,311,959
Ensembl chrNW_004955420:25,305,759...25,312,271 		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_004955420:25,274,269...25,291,984
Ensembl chrNW_004955420:25,273,431...25,296,471 		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:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280 		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_004955452:2,031,868...2,057,264 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 OMIM
ClinVar		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chrNW_004955482:8,917,777...8,923,150 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:9463333 PMID:9521425 More... NCBI chrNW_004955417:23,798,044...24,067,759
Ensembl chrNW_004955417:23,798,393...24,067,100 		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_004955422:3,303,948...3,438,381
Ensembl chrNW_004955422:3,304,842...3,447,908 		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: 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_004955422:3,303,948...3,438,381
Ensembl chrNW_004955422:3,304,842...3,447,908 		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 PMID:28492532 NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280 		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_004955446:11,790,636...11,837,734
Ensembl chrNW_004955446:11,790,444...11,835,001 		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_004955426:23,045,867...23,093,694
Ensembl chrNW_004955426:23,047,167...23,116,891 		JBrowse link
Stuve-Wiedemann Syndrome 1 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: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280 		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_004955426:23,045,867...23,093,694
Ensembl chrNW_004955426:23,047,167...23,116,891 		JBrowse link
Stuve-Wiedemann Syndrome 2 term browser
Symbol Object Name 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_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212 		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_004955472:695,955...698,086
Ensembl chrNW_004955472:696,157...697,922 		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_004955446:11,790,636...11,837,734
Ensembl chrNW_004955446:11,790,444...11,835,001 		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_004955472:698,021...742,966
Ensembl chrNW_004955472:698,513...741,758 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14195
    syndrome 9376
      Hereditary Neoplastic Syndromes 1158
        hereditary multiple exostoses 25
          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 2
          Multiple Exostoses Type II 1
          Multiple Exostoses Type III 0
          Multiple Exostoses with Spastic Tetraparesis 0
          Potocki-Shaffer syndrome 0
          Stuve-Wiedemann Syndrome + 6
          chondrodysplasia Blomstrand type 2
          metachondromatosis 2
Path 2
Term Annotations click to browse term
  disease 14195
    disease of anatomical entity 13850
      musculoskeletal system disease 7281
        connective tissue disease 4941
          bone disease 3625
            bone development disease 2153
              osteochondrodysplasia 828
                Osteochondroma 26
                  Osteochondromatosis 25
                    hereditary multiple exostoses 25
                      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 2
                      Multiple Exostoses Type II 1
                      Multiple Exostoses Type III 0
                      Multiple Exostoses with Spastic Tetraparesis 0
                      Potocki-Shaffer syndrome 0
                      Stuve-Wiedemann Syndrome + 6
                      chondrodysplasia Blomstrand type 2
                      metachondromatosis 2
paths to the root