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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:Chondromatosis
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Accession:DOID:9000685 term browser browse the term
Definition:Multiple formation of chondromas. (Dorland, 27th ed)
Synonyms:exact_synonym: Chondromatoses
 primary_id: MESH:D018210


show annotations for term's descendants           Sort by:
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 chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type		 OMIM
CTD
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
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 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:83,364,478...83,369,319
Ensembl chr 7:83,364,204...83,369,317 		JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:86,094,000...86,101,022
Ensembl chr 7:86,094,000...86,101,019 		JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675 		JBrowse link
G Eif3h eukaryotic translation initiation factor 3, subunit H ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:83,091,037...83,174,451
Ensembl chr 7:83,091,039...83,174,451 		JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:86,202,345...86,325,050
Ensembl chr 7:86,202,350...86,324,827 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO
ISS		 DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis
OMIM:133700 | OMIM:133701 | OMIM:600209
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)
CTD Direct Evidence: marker/mechanism		 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 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357 		JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:133700 | OMIM:133701 | OMIM:600209
ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas		 CTD
MouseDO
ClinVar		 PMID:9536098 PMID:17576681 PMID:23439489 PMID:25741868 PMID:28492532 NCBI chr 3:79,665,414...79,798,077
Ensembl chr 3:79,665,415...79,798,059 		JBrowse link
G Mal2 mal, T-cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:85,900,453...85,933,433
Ensembl chr 7:85,900,453...85,933,429 		JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:84,004,735...84,026,474
Ensembl chr 7:84,004,722...84,026,595 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817 		JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:84,768,850...85,064,057
Ensembl chr 7:84,768,254...85,271,766 		JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:83,591,993...83,627,786
Ensembl chr 7:83,591,993...83,626,305 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Utp23 UTP23, small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655 		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 chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		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 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357 		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 chr 3:79,665,414...79,798,077
Ensembl chr 3:79,665,415...79,798,059 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More... NCBI chr 3:79,665,414...79,798,077
Ensembl chr 3:79,665,415...79,798,059 		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 chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		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 chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936 		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 chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699 		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 chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699 		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 chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		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 chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611 		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 chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936 		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 chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7692
      Neoplasms by Histologic Type 5288
        cell type benign neoplasm 1969
          chondroma 34
            Chondromatosis 26
              Genochondromatosis 0
              Osteochondromatosis + 26
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5786
          Connective Tissue Neoplasms 1773
            chondroma 34
              Chondromatosis 26
                Genochondromatosis 0
                Osteochondromatosis + 26
paths to the root