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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 chr13:29,730,271...29,735,616
Ensembl chr13:29,707,371...29,735,586 		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 chr13:29,749,940...29,775,361
Ensembl chr13:29,753,326...29,775,348 		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 4:21,715,688...21,720,760
Ensembl chr 4:21,715,819...21,720,764 		JBrowse link
G CCN3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:19,505,698...19,514,481
Ensembl chr 4:19,505,701...19,514,406 		JBrowse link
G COLEC10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:19,692,990...20,143,740
Ensembl chr 4:19,692,830...19,744,135 		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 4:21,955,026...22,053,683
Ensembl chr 4:21,954,874...22,058,699 		JBrowse link
G ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:19,319,815...19,433,492
Ensembl chr 4:19,319,810...19,433,488 		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 chr 4:20,645,002...20,935,769
Ensembl chr 4:20,645,610...20,935,540 		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 chr 2:18,099,790...18,239,229
Ensembl chr 2:18,209,102...18,232,025 		JBrowse link
G MAL2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:19,593,536...19,658,695
Ensembl chr 4:19,593,536...19,617,671 		JBrowse link
G MED30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:21,198,740...21,215,634
Ensembl chr 4:21,198,743...21,215,618 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G RAD21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:21,772,821...21,802,453
Ensembl chr 4:21,772,855...21,802,715 		JBrowse link
G SAMD12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:20,143,614...20,570,780
Ensembl chr 4:20,143,883...20,570,768 		JBrowse link
G SLC30A8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:21,517,009...21,557,747
Ensembl chr 4:21,517,486...21,555,746 		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 4:19,180,215...19,267,416
Ensembl chr 4:19,180,320...19,267,071 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125 		JBrowse link
G UTP23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr 4:21,934,796...21,940,994
Ensembl chr 4:21,934,434...21,940,952 		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 6:79,849,691...79,958,283
Ensembl chr 6:79,849,698...79,958,334 		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 6:79,837,734...79,850,311
Ensembl chr 6:79,838,616...79,849,661 		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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G 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
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 chr 4:20,645,002...20,935,769
Ensembl chr 4:20,645,610...20,935,540 		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 2:18,099,790...18,239,229
Ensembl chr 2:18,209,102...18,232,025 		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 chr 2:18,099,790...18,239,229
Ensembl chr 2:18,209,102...18,232,025 		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 6:79,849,691...79,958,283
Ensembl chr 6:79,849,698...79,958,334 		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 chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220 		JBrowse link
G LOC102167255 leukemia inhibitory factor receptor ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr16:23,627,700...23,672,724
Ensembl chr16:23,634,298...23,804,854 		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 6:79,849,691...79,958,283
Ensembl chr 6:79,849,698...79,958,334 		JBrowse link
G LOC102167255 leukemia inhibitory factor receptor 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 chr16:23,627,700...23,672,724
Ensembl chr16:23,634,298...23,804,854 		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 5:94,384,397...94,474,337
Ensembl chr 5:94,384,415...94,474,335 		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 1:236,322,893...236,325,008
Ensembl chr 1:236,322,897...236,324,981 		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 chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220 		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 1:236,265,915...236,322,958
Ensembl chr 1:236,299,344...236,322,953 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15279
    disease of cellular proliferation 7239
      Neoplasms by Histologic Type 5083
        cell type benign neoplasm 1877
          chondroma 34
            Chondromatosis 26
              Genochondromatosis 0
              Osteochondromatosis + 26
Path 2
Term Annotations click to browse term
  disease 15279
    disease of anatomical entity 14927
      musculoskeletal system disease 7711
        connective tissue disease 5260
          Connective Tissue Neoplasms 1733
            chondroma 34
              Chondromatosis 26
                Genochondromatosis 0
                Osteochondromatosis + 26
paths to the root