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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
 primary_id: MESH:D003240
 xref: NCI:C26729;   OMIM:PS248370
For additional species annotation, visit the Alliance of Genome Resources.



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  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 18032
        disease of anatomical entity 17412
          Skin and Connective Tissue Diseases 6546
            connective tissue disease 4900
              Alpha-2-Deficient Collagen Disease 0
              Anetoderma + 2
              Au-Kline Syndrome 3
              Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
              Congenital Fascial Dystrophy 0
              Connective Tissue Neoplasms + 1668
              Dupuytren Contracture + 0
              Lipedema 0
              Marden-Walker Syndrome 1
              Noonan syndrome + 55
              Osteopoikilosis + 2
              Peyronie's disease 2
              Stickler syndrome + 11
              VISS syndrome 1
              Volkmann contracture 0
              arterial tortuosity syndrome 5
              autoimmune disease of skin and connective tissue + 189
              bone disease + 3578
              bullous skin disease + 151
              cartilage disease + 19
              cellulitis + 78
              chronic interstitial cystitis 0
              collagen disease + 430
              congenital vertical talus 1
              cutaneous lupus erythematosus + 15
              cutis laxa + 46
              dental pulp disease + 10
              dermatomyositis + 36
              enthesopathy + 0
              fasciitis + 0
              fibrodysplasia ossificans progressiva 3
              funisitis 0
              homocystinuria + 77
              hyaline fibromatosis syndrome 1
              interstitial keratitis + 0
              interstitial lung disease + 448
              lipodystrophy + 38
              mediastinitis + 0
              mucinoses + 107
              ochronosis + 0
              plantar fascial fibromatosis 0
              pseudoxanthoma elasticum + 21
              rheumatic disease + 755
              synovitis + 7
              systemic lupus erythematosus + 202
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