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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:neurogenic arthropathy
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Accession:DOID:14286 term browser browse the term
Definition:Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)
Synonyms:exact_synonym: Arthropathy associated with neurological disorder;   Charcot Joint;   Charcot's Joint;   Charcot's arthropathy;   Charcots Joint;   Neurogenic Arthropathies;   Neuropathic arthropathy
 primary_id: MESH:D001177;   RDO:0000478
 xref: ICD10CM:M14.6;   ICD9CM:713.5
For additional species annotation, visit the Alliance of Genome Resources.


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camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
ClinVar Annotator: match by OMIM:208250
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Camptodactyly arthropathy coxa vara pericarditis syndrome
OMIM
ClinVar
CTD
PMID:10545950 PMID:25741868 PMID:29397575 PMID:32860008 NCBI chr13:67,672,588...67,688,902
Ensembl chr13:67,672,878...67,688,477
JBrowse link
G Tpr translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Camptodactyly arthropathy coxa vara pericarditis syndrome
ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
ClinVar PMID:25741868 PMID:29397575 NCBI chr13:67,611,685...67,672,833
Ensembl chr13:67,611,708...67,672,827
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      musculoskeletal system disease 6244
        Joint Diseases 1167
          neurogenic arthropathy 2
            Ansell Bywaters Elderking Syndrome 0
            camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      Skin and Connective Tissue Diseases 5625
        connective tissue disease 4355
          bone disease 3040
            bone inflammation disease 950
              arthropathy 73
                neurogenic arthropathy 2
                  Ansell Bywaters Elderking Syndrome 0
                  camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
paths to the root