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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;   RDO:0007694
For additional species annotation, visit the Alliance of Genome Resources.



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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 17289
    sensory system disease 5680
      skin disease 2993
        Nephrogenic Fibrosing Dermopathy 6
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            Nephrogenic Fibrosing Dermopathy 6
paths to the root