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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:connective tissue disease
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Accession:DOID:65 term browser browse the term
Definition:A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. (DO)
Synonyms:exact_synonym: connective tissue diseases;   connective tissue disorder;   disorder of connective tissue
 narrow_synonym: fibroblastic disorder
 primary_id: MESH:D003240
 xref: EFO:0009432;   EFO:1001986;   NCI:C26729
For additional species annotation, visit the Alliance of Genome Resources.


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    Path 1
    Term Annotations click to browse term
      disease 18969
        disease of anatomical entity 18248
          Skin and Connective Tissue Diseases 7461
            connective tissue disease 5786
              Alpha-2-Deficient Collagen Disease 0
              Anetoderma + 2
              Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
              Congenital Fascial Dystrophy 0
              Connective Tissue Neoplasms + 1773
              Dupuytren Contracture + 0
              Ganglion Cysts 0
              Lipedema 0
              Marden-Walker Syndrome 1
              Noonan syndrome + 54
              Osteopoikilosis + 2
              Peyronie's disease 2
              Stickler syndrome + 11
              VISS syndrome 1
              Volkmann contracture 0
              arterial tortuosity syndrome 6
              autoimmune disease of skin and connective tissue + 193
              bone disease + 4302
              bullous skin disease + 166
              cartilage disease + 19
              cellulitis + 14
              chronic interstitial cystitis 0
              collagen disease + 483
              congenital vertical talus 1
              cutaneous lupus erythematosus + 15
              cutis laxa + 46
              dental pulp disease + 10
              dermatomyositis + 38
              enthesopathy + 0
              fasciitis + 0
              fibrodysplasia ossificans progressiva 5
              funisitis 0
              homocystinuria + 89
              hyaline fibromatosis syndrome 2
              interstitial keratitis + 0
              interstitial lung disease + 504
              lipodystrophy + 200
              mediastinitis + 0
              mucinoses + 44
              ochronosis + 1
              plantar fascial fibromatosis 0
              pseudoxanthoma elasticum + 21
              rheumatic disease + 785
              synovitis + 6
              systemic lupus erythematosus + 208
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