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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:pityriasis rubra pilaris
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Accession:DOID:9212 term browser browse the term
Definition:A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma. (DO)
Synonyms:exact_synonym: Devergie's disease;   PRP
 narrow_synonym: papulosquamous eruptions
 primary_id: MESH:D010916
 alt_id: OMIM:173200
 xref: GARD:7401;   ICD10CM:L44.0;   ICD9CM:696.4;   NCI:C85014


show annotations for term's descendants           Sort by:
pityriasis rubra pilaris term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf1 C1q and TNF related 1 ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:103,660,319...103,681,662
Ensembl chr10:103,660,327...103,681,660 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Card14 caspase recruitment domain family, member 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Papulosquamous eruptions | ClinVar Annotator: match by term: Pityriasis rubra pilaris		 OMIM
CTD
ClinVar		 PMID:8178173 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22421419 More... NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905 		JBrowse link
G Cbx2 chromobox 2 ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383 		JBrowse link
G Cbx4 chromobox 4 ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:104,337,140...104,343,210
Ensembl chr10:104,336,876...104,356,706 		JBrowse link
G Cbx8 chromobox 8 ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:104,294,518...104,296,956
Ensembl chr10:104,294,518...104,297,024 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243 		JBrowse link
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:104,549,038...104,559,032
Ensembl chr10:104,549,038...104,559,057 		JBrowse link
G Engase endo-beta-N-acetylglucosaminidase ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:103,707,169...103,719,833
Ensembl chr10:103,707,169...103,719,819 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:104,242,169...104,247,185
Ensembl chr10:104,242,223...104,246,589 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Lgals3bp galectin 3 binding protein ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:103,619,912...103,629,251
Ensembl chr10:103,619,908...103,629,256 		JBrowse link
G Rbfox3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:103,720,355...104,157,277
Ensembl chr10:103,720,636...104,156,935 		JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22521419 PMID:24033266 More... NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486 		JBrowse link
G Slc26a11 solute carrier family 26 member 11 ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:104,613,498...104,635,873
Ensembl chr10:104,613,564...104,635,970 		JBrowse link
G Tbc1d16 TBC1 domain family, member 16 ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:104,400,963...104,486,698
Ensembl chr10:104,402,398...104,486,670 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris ClinVar PMID:28492532 NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611 		JBrowse link
Familial Pityriasis Rubra Pilaris term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card14 caspase recruitment domain family, member 14 ISO ClinVar Annotator: match by term: Familial pityriasis rubra pilaris | ClinVar Annotator: match by term: Pityriasis rubra pilaris--familial type ClinVar PMID:9536098 PMID:17576681 PMID:22521419 PMID:24033266 PMID:25741868 More... NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Pityriasis rubra pilaris--familial type ClinVar PMID:22521419 PMID:25741868 PMID:28492532 NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      skin disease 3969
        Papulosquamous Skin Diseases 170
          Pityriasis 18
            pityriasis rubra pilaris 18
              Familial Pityriasis Rubra Pilaris 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Papulosquamous Skin Diseases 170
                Pityriasis 18
                  pityriasis rubra pilaris 18
                    Familial Pityriasis Rubra Pilaris 2
paths to the root