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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:cartilage disease
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Accession:DOID:1222 term browser browse the term
Definition:A connective tissue disease that is located_in cartilage. (DO)
Synonyms:exact_synonym: cartilage diseases;   cartilage disorder;   chondropathy
 primary_id: MESH:D002357
 xref: ICD10CM:M94.9
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cartilage disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 treatment ISO RGD PMID:16447218 RGD:8699518 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:11668593 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:27028940 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20707411 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Fgf14 fibroblast growth factor 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11241832 NCBI chr15:110,382,274...111,077,027
Ensembl chr15:110,385,217...110,612,681
JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20707411 NCBI chr 4:120,129,028...120,142,490
Ensembl chr 4:120,133,713...120,142,488
JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP mRNA:increased expression:articular cartilage RGD PMID:20153826 RGD:2325860 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mt2A metallothionein 2A ISO Auricular Chondritis; mRNA:increased expression:ear (mouse) RGD PMID:17606507 RGD:6483833 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Nppc natriuretic peptide C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17676597 NCBI chr 9:93,731,436...93,735,636
Ensembl chr 9:93,731,436...93,735,636
JBrowse link
autosomal recessive cutis laxa type IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
ClinVar Annotator: match by OMIM:613177
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:19836010, PMID:22829427, PMID:23440719, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31115174 NCBI chr 1:84,118,046...84,152,095
Ensembl chr 1:84,118,046...84,150,084
JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: CHITAYAT SYNDROME ClinVar
OMIM
PMID:8418638, PMID:27738187 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
JBrowse link
Familial Osteochondritis Dissecans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO OMIM NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
JBrowse link
Keutel Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgp matrix Gla protein ISO DNA:deletion,nonsense mutation, splice-site mutation:exon, intron:c.69delG, IVS1-2A>G, c.113T>A (human)
ClinVar Annotator: match by term: Keutel syndrome
ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:245150
ClinVar
OMIM
CTD
PMID:9916809, PMID:15810001, PMID:21705322, PMID:25741868, PMID:28492532, PMID:9916809 RGD:1600783 NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
JBrowse link
Laryngomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 1:165,382,279...165,480,088
Ensembl chr 1:165,382,690...165,479,655
JBrowse link
G Car2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 4:157,612,531...157,645,660
Ensembl chr 4:157,612,536...157,645,659
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 1:166,898,177...166,912,524
Ensembl chr 1:166,899,894...166,912,524
JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:18382993, PMID:21327084, PMID:27336722, PMID:27830109, PMID:30311386 NCBI chr13:100,431,390...100,450,209 JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr19:25,783,686...25,801,526
Ensembl chr19:25,783,900...25,801,526
JBrowse link
G Nags N-acetylglutamate synthase ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr10:90,084,607...90,089,693
Ensembl chr10:90,085,559...90,089,693
JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:25741868 NCBI chr19:25,818,640...25,914,777
Ensembl chr19:25,821,780...25,914,696
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr10:109,736,459...109,748,070
Ensembl chr10:109,736,458...109,747,987
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 3:177,098,137...177,162,937
Ensembl chr 3:177,098,073...177,162,916
JBrowse link
G Sptbn2 spectrin, beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr 1:219,964,429...220,006,811
Ensembl chr 1:219,964,429...220,005,068
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:28492532, PMID:30311386 NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
JBrowse link
G Tbx3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr12:42,479,518...42,494,588
Ensembl chr12:42,480,560...42,492,526
JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr20:29,897,543...29,923,381
Ensembl chr20:29,897,594...29,919,998
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Laryngomalacia ClinVar PMID:30311386 NCBI chr19:46,761,353...47,695,247 JBrowse link
osteochondritis dissecans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO
ISS
ClinVar Annotator: match by term: Osteochondritis dissecans
OMIM:165800
ClinVar
MouseDO
PMID:14216462, PMID:20137779, PMID:24762113, PMID:25741789, PMID:25741868, PMID:27710243, PMID:27870580, PMID:28331218, PMID:28492532 NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
JBrowse link
Pectus Carinatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Pectus carinatum ClinVar PMID:30311386 NCBI chr 5:168,138,207...169,017,295
Ensembl chr 5:168,141,372...169,017,295
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Pectus carinatum ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Pectus carinatum ClinVar PMID:28492532, PMID:30311386 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Pectus carinatum ClinVar PMID:25741868 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: Pectus carinatum ClinVar PMID:30311386 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Pectus carinatum ClinVar PMID:21520333, PMID:25741868, PMID:26436962, PMID:28492532, PMID:30311386 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Pectus carinatum ClinVar PMID:30311386 NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Pectus carinatum ClinVar PMID:30311386 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Pectus carinatum ClinVar PMID:30311386 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Pectus carinatum ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Pectus carinatum ClinVar PMID:30311386 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO ClinVar Annotator: match by term: Pectus carinatum ClinVar PMID:1024343, PMID:30311386 NCBI chr 7:75,573,553...75,598,295
Ensembl chr 7:75,574,967...75,597,276
JBrowse link
relapsing polychondritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO protein:increased expression:ear RGD PMID:17606507 RGD:6483833 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:ear RGD PMID:17606507 RGD:6483833 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Tietze's syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO RGD PMID:10851256 RGD:1599943 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        cartilage disease 48
          Fibrocartilaginous Embolism 0
          Keutel Syndrome 1
          Laryngomalacia + 20
          Osteochondritis + 1
          Pectus Carinatum 12
          Tietze's syndrome 1
          Tracheobronchomalacia + 1
          articular cartilage disease + 2
          autosomal recessive cutis laxa type IC 1
          cartilage cancer 0
          discitis 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          cartilage disease 48
            Fibrocartilaginous Embolism 0
            Keutel Syndrome 1
            Laryngomalacia + 20
            Osteochondritis + 1
            Pectus Carinatum 12
            Tietze's syndrome 1
            Tracheobronchomalacia + 1
            articular cartilage disease + 2
            autosomal recessive cutis laxa type IC 1
            cartilage cancer 0
            discitis 0
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.