Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary multiple exostoses
go back to main search page
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: NCI:C5183;   ORDO:321
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
hereditary multiple exostoses term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext1 exostosin glycosyltransferase 1 JBrowse link 7 92,605,008 92,881,392 RGD:1598916
RGD:8554872
RGD:13208236
RGD:13208234
RGD:13208233
RGD:13208229
RGD:13208228
RGD:13208227
RGD:11554173
G Ext2 exostosin glycosyltransferase 2 JBrowse link 3 82,602,784 82,734,557 RGD:11554173
RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:11554173
chondrodysplasia Blomstrand type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pth1r parathyroid hormone 1 receptor JBrowse link 8 118,984,531 119,012,803 RGD:8554872
RGD:7240710
Kniest Like Dysplasia Lethal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:8554872
Metachondromatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:7240710
RGD:8554872
G Rpl6 ribosomal protein L6 JBrowse link 12 40,877,578 40,882,032 RGD:8554872
Multiple Exostoses Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext1 exostosin glycosyltransferase 1 JBrowse link 7 92,605,008 92,881,392 RGD:7240710
Multiple Exostoses Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext2 exostosin glycosyltransferase 2 JBrowse link 3 82,602,784 82,734,557 RGD:7240710
RGD:8554872
Stuve-Wiedemann Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:8554872
G Lifr LIF receptor subunit alpha JBrowse link 2 56,424,910 56,489,346 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15578
    disease of cellular proliferation 5770
      Hereditary Neoplastic Syndromes 765
        hereditary multiple exostoses 7
          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 1
          Metachondromatosis 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 2
          chondrodysplasia Blomstrand type 1
Path 2
Term Annotations click to browse term
  disease 15578
    disease of anatomical entity 14907
      musculoskeletal system disease 4249
        connective tissue disease 2760
          bone disease 2209
            bone development disease 979
              osteochondrodysplasia 405
                Osteochondroma 7
                  Osteochondromatosis 7
                    hereditary multiple exostoses 7
                      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 1
                      Metachondromatosis 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 2
                      chondrodysplasia Blomstrand type 1
paths to the root

NHLBI Logo

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