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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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    • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 19140
        disease of anatomical entity 18453
          Skin and Connective Tissue Diseases 7774
            connective tissue disease 5918
              ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME 1
              Alpha-2-Deficient Collagen Disease 0
              Anetoderma + 2
              Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
              Congenital Fascial Dystrophy 0
              Connective Tissue Neoplasms + 1737
              Dupuytren Contracture + 0
              Ganglion Cysts 0
              Lipedema 0
              Marden-Walker Syndrome 1
              Noonan syndrome + 64
              Osteopoikilosis + 2
              Peyronie's disease 2
              Stickler syndrome + 13
              VISS syndrome 2
              Volkmann contracture 0
              arterial tortuosity syndrome 6
              autoimmune disease of skin and connective tissue + 193
              bone disease + 4368
              bullous skin disease + 168
              cartilage disease + 892
              cellulitis + 14
              chronic interstitial cystitis 0
              collagen disease + 496
              congenital vertical talus 1
              cutaneous lupus erythematosus + 15
              cutis laxa + 48
              dental pulp disease + 10
              dermatomyositis + 38
              enthesopathy + 0
              fasciitis + 0
              fibrodysplasia ossificans progressiva 5
              funisitis 0
              homocystinuria + 89
              hyaline fibromatosis syndrome 3
              interstitial keratitis + 0
              interstitial lung disease + 557
              lipodystrophy + 201
              mediastinitis + 0
              mucinoses + 64
              ochronosis + 1
              pseudoxanthoma elasticum + 21
              rheumatic disease + 788
              synovitis + 8
              systemic lupus erythematosus + 211
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