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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;   RDO:0007112
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
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 Pth1r parathyroid hormone 1 receptor ISO OMIM NCBI chrNW_004955420:25,274,269...25,291,984
Ensembl chrNW_004955420:25,273,431...25,296,471
JBrowse link
hereditary multiple exostoses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO DNA:nonsense mutation:cds:p.Y634X (human)
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar Annotator: match by term: Multiple exostoses
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis
ClinVar Annotator: match by term: MULTIPLE OSTEOCHONDROMAS
DNA:frameshift mutation:cds:p.S442IfsX1 (human)
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds:p.V545_E574del (human)
DNA:missense mutation:cds:p.Y271H (human)
DNA:missense mutation, frameshift mutation:cds:p.R340L, p.K177KfsX15 (human)
DNA:frameshift mutations, missense mutation:cds:multiple (human)
DNA:frameshift mutation:cds:p.K218fsX247 (human)
RGD
ClinVar
CTD
PMID:1816274, PMID:7550340, PMID:8981950, PMID:9150727, PMID:9326317, PMID:9463333, PMID:9521425, PMID:9620772, PMID:10639137, PMID:10679296, PMID:10679937, PMID:10713884, PMID:11169766, PMID:11170095, PMID:11342960, PMID:11391482, PMID:11432960, PMID:11668521, PMID:12032595, PMID:12239711, PMID:12490068, PMID:15221792, PMID:15253765, PMID:15586175, PMID:16088908, PMID:16283885, PMID:17041877, PMID:17301954, PMID:17589361, PMID:17767039, PMID:18165274, PMID:18330718, PMID:18373409, PMID:18976157, PMID:19344451, PMID:19810120, PMID:19839753, PMID:20025490, PMID:20080592, PMID:20418910, PMID:21039224, PMID:21280143, PMID:21499719, PMID:21520333, PMID:21703028, PMID:22258776, PMID:22382802, PMID:22913777, PMID:23262345, PMID:23439489, PMID:23629877, PMID:24120389, PMID:24297320, PMID:24496678, PMID:24532482, PMID:24728327, PMID:25230886, PMID:25421355, PMID:25468659, PMID:25541963, PMID:25741868, PMID:26239617, PMID:26515642, PMID:26622573, PMID:26690531, PMID:26839764, PMID:26961984, PMID:28492532, PMID:28690282, PMID:29126381, PMID:29529714, PMID:29620724, PMID:29989442, PMID:30311386, PMID:30334991 RGD:13208227, RGD:13208228, RGD:13208229, RGD:13208233, RGD:13208234, RGD:13208236, RGD:1598916 NCBI chrNW_004955417:23,798,044...24,067,759
Ensembl chrNW_004955417:23,798,393...24,067,100
JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23439489 NCBI chrNW_004955422:3,303,948...3,438,381
Ensembl chrNW_004955422:3,304,842...3,447,908
JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
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:11279527, PMID:24088041, PMID:24781210, PMID:25504735, PMID:25741868, PMID:25803036, PMID:26467025, PMID:26508570, PMID:26633545, PMID:28242392, PMID:28492532, PMID:29271572, PMID:29901129, PMID:30311386 NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280
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 chrNW_004955452:2,031,868...2,057,264 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 OMIM NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chrNW_004955482:8,917,777...8,923,150 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 OMIM NCBI chrNW_004955417:23,798,044...24,067,759
Ensembl chrNW_004955417:23,798,393...24,067,100
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 OMIM NCBI chrNW_004955422:3,303,948...3,438,381
Ensembl chrNW_004955422:3,304,842...3,447,908
JBrowse link
Osteochondromatosis 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: OSTEOCHONDROMATOSIS ClinVar PMID:7550340, PMID:8981950, PMID:9326317, PMID:9521425, PMID:9620772, PMID:10639137, PMID:10679296, PMID:10679937, PMID:10713884, PMID:11391482, PMID:11432960, PMID:15253765, PMID:16283885, PMID:17041877, PMID:18165274, PMID:18330718, PMID:19810120, PMID:20418910, PMID:22258776, PMID:23439489, PMID:25230886, PMID:25741868, PMID:26239617, PMID:26515642, PMID:26961984, PMID:28492532, PMID:29126381 NCBI chrNW_004955417:23,798,044...24,067,759
Ensembl chrNW_004955417:23,798,393...24,067,100
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 NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280
JBrowse link
G Il6st interleukin 6 signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar NCBI chrNW_004955446:11,790,636...11,837,734
Ensembl chrNW_004955446:11,790,444...11,835,001
JBrowse link
G Lifr LIF receptor subunit alpha ISO OMIM NCBI chrNW_004955426:23,045,867...23,093,694
Ensembl chrNW_004955426:23,047,167...23,116,891
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11814
    disease of cellular proliferation 5132
      Neoplasms by Histologic Type 3313
        cell type benign neoplasm 697
          chondroma 16
            Chondromatosis 9
              Genochondromatosis 0
              Osteochondromatosis + 9
              metachondromatosis 2
Path 2
Term Annotations click to browse term
  disease 11814
    disease of anatomical entity 11367
      musculoskeletal system disease 4924
        connective tissue disease 3405
          Connective Tissue Neoplasms 1307
            chondroma 16
              Chondromatosis 9
                Genochondromatosis 0
                Osteochondromatosis + 9
                metachondromatosis 2
paths to the root

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