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metachondromatosis - Ontology Report - Rat Genome Database

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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:metachondromatosis
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Accession:DOID:0111512 term browser browse the term
Definition:An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. (DO)
Synonyms:exact_synonym: METCDS
 primary_id: MESH:C562938
 alt_id: MIM:156250
 xref: GARD:3560;   ORDO:2499

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metachondromatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N 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_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G 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 chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637 		JBrowse link
G P 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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G S 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_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		JBrowse link
G D 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 chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G B 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 chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G C 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 R Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G M Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G H 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 N Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chrNW_004624747:19,821,875...19,826,605
Ensembl chrNW_004624747:19,822,791...19,827,045 		JBrowse link
G G RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr11:107,650,603...107,652,130 JBrowse link
G P RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr14:39,302,447...39,309,239
Ensembl chr14:39,303,350...39,309,236 		JBrowse link
G S Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chrNW_004936668:2,584,829...2,588,236
Ensembl chrNW_004936668:2,583,958...2,587,397 		JBrowse link
G D RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr26:9,970,416...9,975,897 JBrowse link
G B RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr12:110,002,667...110,008,899
Ensembl chr12:113,398,795...113,403,186 		JBrowse link
G C Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chrNW_004955482:8,917,777...8,923,150 JBrowse link
G R Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr12:41,008,142...41,012,756
Ensembl chr12:35,347,497...35,351,921 		JBrowse link
G M Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr 5:121,342,564...121,347,304
Ensembl chr 5:121,342,544...121,347,304 		JBrowse link
G H 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of cellular proliferation 92555
      Hereditary Neoplastic Syndromes 15201
        hereditary multiple exostoses 337
          metachondromatosis 20
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      musculoskeletal system disease 96321
        connective tissue disease 68438
          bone disease 49930
            bone development disease 24312
              osteochondrodysplasia 9137
                Osteochondroma 347
                  Osteochondromatosis 337
                    hereditary multiple exostoses 337
                      metachondromatosis 20
paths to the root