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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: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.


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 AARD alanine and arginine rich domain containing protein IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:116,938,207...116,944,487
Ensembl chr 8:116,938,207...116,944,487 		JBrowse link
G CCN3 cellular communication network factor 3 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:119,416,446...119,424,434
Ensembl chr 8:119,416,446...119,424,434 		JBrowse link
G COLEC10 collectin subfamily member 10 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455 		JBrowse link
G EIF3H eukaryotic translation initiation factor 3 subunit H IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:116,642,130...116,766,374
Ensembl chr 8:116,642,130...116,766,925 		JBrowse link
G ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:119,557,086...119,673,390
Ensembl chr 8:119,557,086...119,673,453 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP
ISS
EXP
ISO		 DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis
OMIM:133700 | OMIM:133701 | OMIM:600209
CTD Direct Evidence: marker/mechanism
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
MouseDO
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 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple congenital exostosis
OMIM:133700 | OMIM:133701 | OMIM:600209
ClinVar Annotator: match by term: Multiple osteochondromas		 CTD
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:23439489 PMID:25741868 PMID:28492532 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G LOC124188206 Sharpr-MPRA regulatory region 14285 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 NCBI chr 8:117,831,570...117,831,864 JBrowse link
G LOC130001002 ATAC-STARR-seq lymphoblastoid silent region 19478 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar NCBI chr 8:118,111,679...118,111,768 JBrowse link
G MAL2 mal, T cell differentiation protein 2 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:119,208,363...119,245,673
Ensembl chr 8:119,165,034...119,245,673 		JBrowse link
G MED30 mediator complex subunit 30 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:117,520,713...117,540,262
Ensembl chr 8:117,520,713...117,540,262 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G SAMD12 sterile alpha motif domain containing 12 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:118,131,825...118,621,963
Ensembl chr 8:118,189,455...118,622,112 		JBrowse link
G SLC30A8 solute carrier family 30 member 8 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:116,950,217...117,176,714
Ensembl chr 8:116,950,273...117,176,714 		JBrowse link
G TAF2 TATA-box binding protein associated factor 2 IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:119,730,774...119,832,841
Ensembl chr 8:119,730,774...119,832,863 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G UTP23 UTP23 small subunit processome component IAGP ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 8:116,766,524...116,774,684
Ensembl chr 8:116,766,505...116,849,463 		JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129936652 ATAC-STARR-seq lymphoblastoid silent region 14297 IAGP ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar PMID:9745456 PMID:25741868 PMID:28492532 NCBI chr 3:46,897,867...46,897,936 JBrowse link
G MYL3 myosin light chain 3 IAGP ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP
EXP		 ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		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 IAGP ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 IAGP ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:21,812,265...21,825,225
Ensembl chr 1:21,812,265...21,825,225 		JBrowse link
G LOC126805655 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:22178409-22179608 IAGP ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:21,851,916...21,853,115 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 IAGP
EXP		 ClinVar Annotator: match by term: Metachondromatosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RPL6 ribosomal protein L6 IAGP ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr12:112,405,181...112,418,835
Ensembl chr12:112,405,189...112,418,838 		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 IAGP
EXP		 ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		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 IAGP
EXP		 ClinVar Annotator: match by term: Exostoses, multiple, type 2
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More... NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G LOC126861201 MED14-independent group 3 enhancer GRCh37_chr11:44218806-44220005 IAGP ClinVar Annotator: match by term: Exostoses, multiple, type 2 ClinVar PMID:9536098 PMID:10679937 PMID:16199547 PMID:17576681 PMID:19810120 More... NCBI chr11:44,197,256...44,198,455 JBrowse link
G LOC130005598 ATAC-STARR-seq lymphoblastoid silent region 3272 IAGP ClinVar Annotator: match by term: Exostoses, multiple, type 2 ClinVar PMID:25741868 NCBI chr11:44,095,545...44,096,164 JBrowse link
G LOC130005600 ATAC-STARR-seq lymphoblastoid active region 4651 IAGP ClinVar Annotator: match by term: Exostoses, multiple, type 2 ClinVar PMID:28492532 NCBI chr11:44,110,447...44,110,526 JBrowse link
G LOC130005601 ATAC-STARR-seq lymphoblastoid active region 4652 IAGP ClinVar Annotator: match by term: Exostoses, multiple, type 2 ClinVar PMID:28492532 NCBI chr11:44,113,447...44,113,496 JBrowse link
Stuve-Wiedemann Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNO-DT CCNO divergent transcript IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar NCBI chr 5:55,233,894...55,295,302
Ensembl chr 5:55,233,934...55,295,201 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LIFR-AS1 LIFR antisense RNA 1 IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar NCBI chr 5:38,556,786...38,671,216
Ensembl chr 5:38,556,765...38,671,216 		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 IAGP ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP
EXP		 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		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 IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CIMIP2B ciliary microtubule inner protein 2B IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:35,561,831...35,563,878
Ensembl chr 9:35,561,831...35,563,899 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31914175 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G RUSC2 RUN and SH3 domain containing 2 IAGP ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:35,490,111...35,561,895
Ensembl chr 9:35,490,111...35,561,898 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    syndrome 18145
      Hereditary Neoplastic Syndromes 1761
        hereditary multiple exostoses 36
          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 3
          Metaphyseal Acroscyphodysplasia 0
          Multiple Exostoses Type I 2
          Multiple Exostoses Type II 5
          Multiple Exostoses Type III 0
          Multiple Exostoses with Spastic Tetraparesis 0
          Potocki-Shaffer syndrome 0
          Stuve-Wiedemann Syndrome + 8
          chondrodysplasia Blomstrand type 3
          metachondromatosis 2
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      musculoskeletal system disease 11817
        connective tissue disease 7577
          bone disease 5734
            bone development disease 3279
              osteochondrodysplasia 1233
                Osteochondroma 37
                  Osteochondromatosis 36
                    hereditary multiple exostoses 36
                      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 3
                      Metaphyseal Acroscyphodysplasia 0
                      Multiple Exostoses Type I 2
                      Multiple Exostoses Type II 5
                      Multiple Exostoses Type III 0
                      Multiple Exostoses with Spastic Tetraparesis 0
                      Potocki-Shaffer syndrome 0
                      Stuve-Wiedemann Syndrome + 8
                      chondrodysplasia Blomstrand type 3
                      metachondromatosis 2
paths to the root