Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:connective tissue disease
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 





Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      Skin and Connective Tissue Diseases 5356
        connective tissue disease 3992
          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 + 1385
          Dupuytren Contracture + 0
          Lipedema 0
          Marden-Walker Syndrome 1
          Noonan syndrome + 54
          Osteopoikilosis + 2
          Peyronie's disease 2
          Stickler syndrome + 5
          Volkmann contracture 0
          ainhum + 0
          arterial tortuosity syndrome 4
          autoimmune disease of skin and connective tissue + 78
          bone disease + 3455
          bullous skin disease + 20
          cartilage disease + 18
          cellulitis + 28
          chronic interstitial cystitis 0
          collagen disease + 303
          congenital vertical talus 1
          cutaneous lupus erythematosus + 14
          cutis laxa + 41
          dental pulp disease + 10
          dermatomyositis + 29
          enthesopathy + 0
          fasciitis + 0
          fibrodysplasia ossificans progressiva 2
          funisitis 0
          homocystinuria + 11
          hyaline fibromatosis syndrome 1
          interstitial keratitis + 0
          interstitial lung disease + 348
          lipodystrophy + 35
          mediastinitis + 0
          mixed connective tissue disease 8
          mucinoses + 28
          ochronosis + 0
          plantar fascial fibromatosis 0
          pseudoxanthoma elasticum + 21
          rheumatic disease + 730
          synovitis + 6
          systemic lupus erythematosus + 198
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.