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

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
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           Sort by:
 





Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          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 + 1391
          Dupuytren Contracture + 0
          Lipedema 0
          Marden-Walker Syndrome 1
          Noonan syndrome + 52
          Osteopoikilosis + 2
          Peyronie's disease 2
          Stickler syndrome + 6
          Volkmann contracture 0
          arterial tortuosity syndrome 4
          autoimmune disease of skin and connective tissue + 181
          bone disease + 3528
          bullous skin disease + 20
          cartilage disease + 48
          cellulitis + 33
          chronic interstitial cystitis 0
          collagen disease + 307
          congenital vertical talus 2
          cutaneous lupus erythematosus + 14
          cutis laxa + 41
          dental pulp disease + 10
          dermatomyositis + 35
          enthesopathy + 0
          fasciitis + 0
          fibrodysplasia ossificans progressiva 2
          funisitis 0
          homocystinuria + 12
          hyaline fibromatosis syndrome 1
          interstitial keratitis + 0
          interstitial lung disease + 352
          lipodystrophy + 35
          mediastinitis + 0
          mucinoses + 29
          ochronosis + 0
          plantar fascial fibromatosis 0
          pseudoxanthoma elasticum + 21
          rheumatic disease + 733
          synovitis + 6
          systemic lupus erythematosus + 200
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.