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ONTOLOGY REPORT - ANNOTATIONS


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
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  disease 15626
    disease of anatomical entity 14956
      Skin and Connective Tissue Diseases 4230
        connective tissue disease 2779
          Alpha-2-Deficient Collagen Disease 0
          Anetoderma + 2
          Au-Kline Syndrome 1
          Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
          Congenital Fascial Dystrophy 0
          Connective Tissue Neoplasms + 231
          Dupuytren Contracture + 0
          Lipedema 0
          Marden-Walker Syndrome 1
          Noonan syndrome + 52
          Osteopoikilosis + 2
          Peyronie's disease 2
          Stickler syndrome + 5
          Volkmann contracture 0
          ainhum + 0
          arterial tortuosity syndrome 4
          bone disease + 2232
          cartilage disease + 18
          cellulitis + 42
          chronic interstitial cystitis 0
          collagen disease + 281
          cutaneous lupus erythematosus + 13
          cutis laxa + 42
          dental pulp disease + 10
          dermatomyositis + 29
          enthesopathy + 0
          fasciitis + 0
          fibrodysplasia ossificans progressiva 2
          funisitis 0
          homocystinuria + 8
          interstitial keratitis + 0
          interstitial lung disease + 329
          lipodystrophy + 31
          mediastinitis + 0
          mixed connective tissue disease 8
          mucinoses + 26
          ochronosis + 0
          ossification of the posterior longitudinal ligament of spine 2
          plantar fascial fibromatosis 0
          pseudoxanthoma elasticum + 20
          rheumatic disease + 818
          synovitis + 6
          systemic scleroderma + 107
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.