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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:degenerative disc disease
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Accession:DOID:90 term browser browse the term
Definition:A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. (DO)
Synonyms:exact_synonym: Degenerative Intervertebral Disc;   Degenerative Intervertebral Disk;   Degenerative Intervertebral Disks;   Disc Degeneration;   Disc Degenerations;   Disc Degradation;   Disc Degradations;   Disk Degeneration;   Disk Degenerations;   Disk Degradation;   Disk Degradations;   Intervertebral Disc Degeneration;   Intervertebral Disc Degenerations;   Intervertebral Disk Degeneration;   cervical disc degenerative disease;   degenerative intervertebral discs;   intervertebral disc degradation;   intervertebral disk degenerations;   lumbar disc degeneration;   vertebral disc disease
 primary_id: MESH:D055959
 xref: NCI:C27156
For additional species annotation, visit the Alliance of Genome Resources.


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degenerative disc disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan treatment IDA
IEP
associated with Renal Insufficiency
mRNA:decreased expression:intervertebral disk
RGD PMID:19063844 PMID:24285589 RGD:10043178, RGD:11570539 NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 IEP RGD PMID:22394620 RGD:10043115 NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065
JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 IEP mRNA:increased expression:intervertebral disk of cervical vertebra RGD PMID:20948465 PMID:22394620 RGD:8661231, RGD:10043115 NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205
JBrowse link
G Aspn asporin severity
susceptibility
ISO mRNA:increased expression:intervertebral disk:
DNA:repeats:exon:
RGD PMID:19327154 PMID:18304494 RGD:9684961, RGD:9684970 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Col10a1 collagen type X alpha 1 chain IEP RGD PMID:20948465 RGD:8661231 NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP: :rs2075555 (human) RGD PMID:19180518 RGD:5688293 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col2a1 collagen type II alpha 1 chain treatment IEP
IDA
mRNA:decreased expression:intervertebral disc (rat)
associated with Renal Insufficiency
RGD PMID:20948465 PMID:24285589 PMID:19063844 RGD:8661231, RGD:11570539, RGD:10043178 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Crk CRK proto-oncogene, adaptor protein treatment IEP RGD PMID:23055810 RGD:11568070 NCBI chr10:60,530,469...60,556,703
Ensembl chr10:60,530,464...60,553,406
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO associated with Progeria RGD PMID:20973062 RGD:13207419 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:29393545 RGD:13792726 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA RGD PMID:19916288 RGD:7207382 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment IEP
IDA
mRNA:increased expression:intervertebral disc
associated with Renal Insufficiency
RGD PMID:20948465 PMID:19063844 PMID:20472983 RGD:8661231, RGD:10043178, RGD:2325859 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP mRNA:increased expression:intervertebral disc RGD PMID:20472983 PMID:20948465 RGD:2325859, RGD:8661231 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Ngf nerve growth factor IMP RGD PMID:20973063 RGD:5144150 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Ngfr nerve growth factor receptor IMP RGD PMID:20973063 RGD:5144150 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Pappa1 pappalysin 1 ISO protein:increased expression:vertebral disc: RGD PMID:18552658 RGD:10412724 NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
JBrowse link
G Postn periostin IEP
ISO
protein:increased expression:tail intervertebral disc:
mRNA,protein:increased expression:nucleus pulposus:
RGD PMID:23453657 PMID:23453657 RGD:10040995, RGD:10040995 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714283 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21351055 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment IDA associated with Renal Insufficiency RGD PMID:19063844 RGD:10043178 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
Intervertebral Disc Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspn asporin ISO OMIM NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP mRNA,protein:increased expression:neuron,macrophage: RGD PMID:24462503 RGD:8661788 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Cilp cartilage intermediate layer protein ISO OMIM NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Intervertebral disc disease
ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to
OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:10612821 PMID:17999364 PMID:19344236 More... NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
JBrowse link
G Col1a1 collagen type I alpha 1 chain no_association ISO DNA:insertion
DNA:polymorphism
RGD PMID:18694864 PMID:15994869 RGD:5688295, RGD:5688297 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to OMIM
ClinVar
PMID:11308397 PMID:25741868 PMID:28492532 NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat) RGD PMID:21243740 RGD:9068928 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Mir155 microRNA 155 treatment ISO miRNA:decreased expression:nucleus pulposus RGD PMID:27227700 PMID:27227700 RGD:24922221, RGD:24922221 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Thbs2 thrombospondin 2 ISO ClinVar Annotator: match by synonym: Lumbar disc herniation, susceptibility to OMIM
ClinVar
PMID:18455130 NCBI chr 1:55,670,394...55,699,789
Ensembl chr 1:55,670,394...55,699,789
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        bone disease 3106
          spinal disease 925
            degenerative disc disease 29
              Intervertebral Disc Disease + 9
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        connective tissue disease 4420
          bone disease 3106
            spinal disease 925
              bone structure disease 85
                bone deterioration disease 29
                  degenerative disc disease 29
                    Intervertebral Disc Disease + 9
paths to the root