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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:Nephrogenic Fibrosing Dermopathy
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Accession:DOID:9007889 term browser browse the term
Definition:A chronic, acquired, idiopathic, progressive eruption of the skin that occurs in the context of RENAL FAILURE. It is sometimes accompanied by systemic fibrosis. The pathogenesis seems to be multifactorial, with postulated involvement of circulating fibrocytes. There is a strong association between this disorder and the use of gadolinium-based contrast agents.
Synonyms:exact_synonym: Nephrogenic Fibrosing Dermopathies;   Nephrogenic Systemic Fibroses;   Nephrogenic Systemic Fibrosis
 primary_id: MESH:D054989
 xref: EFO:1001814


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Nephrogenic Fibrosing Dermopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:20570839 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNP:intron: (rs4730751) (human) RGD PMID:23051628 RGD:8661777 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 IEP protein:increased expression:serum RGD PMID:19131226 RGD:5135067 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20570839 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:skin (human) RGD PMID:20708474 RGD:7207047 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:skin (human) RGD PMID:20708474 RGD:7207047 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7331
      skin disease 4309
        Nephrogenic Fibrosing Dermopathy 6
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Neurologic Manifestations 10420
          sensory system disease 7331
            skin disease 4309
              Nephrogenic Fibrosing Dermopathy 6
paths to the root