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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 heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides.
Synonyms:exact_synonym: connective tissue diseases;   connective tissue disorder;   disorder of connective tissue
 primary_id: MESH:D003240
 alt_id: RDO:0001278
 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 17207
        disease of anatomical entity 16553
          Skin and Connective Tissue Diseases 5813
            connective tissue disease 4422
              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 + 1619
              Dupuytren Contracture + 0
              Lipedema 0
              Marden-Walker Syndrome 1
              Noonan syndrome + 55
              Osteopoikilosis + 2
              Peyronie's disease 2
              Stickler syndrome + 11
              Volkmann contracture 0
              arterial tortuosity syndrome 5
              autoimmune disease of skin and connective tissue + 187
              bone disease + 3108
              bullous skin disease + 117
              cartilage disease + 18
              cellulitis + 45
              chronic interstitial cystitis 0
              collagen disease + 324
              congenital vertical talus 1
              cutaneous lupus erythematosus + 15
              cutis laxa + 45
              dental pulp disease + 10
              dermatomyositis + 35
              enthesopathy + 0
              fasciitis + 0
              fibrodysplasia ossificans progressiva 3
              funisitis 0
              homocystinuria + 11
              hyaline fibromatosis syndrome 1
              interstitial keratitis + 0
              interstitial lung disease + 361
              lipodystrophy + 37
              mediastinitis + 0
              mucinoses + 36
              ochronosis + 0
              plantar fascial fibromatosis 0
              pseudoxanthoma elasticum + 21
              rheumatic disease + 743
              synovitis + 6
              systemic lupus erythematosus + 201
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