Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:porokeratosis
go back to main search page
Accession:DOID:3805 term browser browse the term
Definition:A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.
Synonyms:exact_synonym: disseminated superficial actinic porokeratosis;   linear porokeratosis;   palmoplantar porokeratosis;   punctate porokeratosis
 primary_id: MESH:D017499
 xref: EFO:1000757;   GARD:10983;   ICD10CM:L56.5;   ICD9CM:692.75;   NCI:C85019;   OMIM:PS175800
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
porokeratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Linear porokeratosis ClinVar PMID:30942823 PMID:33005717 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Linear porokeratosis ClinVar PMID:25741868 PMID:30942823 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		JBrowse link
Craniosynostosis, Anal Anomalies, and Porokeratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnu12-2l1 RNA, U12 small nuclear 2 like 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDAGS syndrome		 OMIM
CTD
ClinVar		 PMID:2400728 PMID:9733036 PMID:23602181 PMID:28217872 PMID:34085356 NCBI chr 7:114,303,546...114,303,696
Ensembl chr 7:114,303,546...114,303,696 		JBrowse link
Porokeratosis 1, Multiple Types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Porokeratosis 1, multiple types | ClinVar Annotator: match by term: Porokeratosis of Mibelli
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26202976 PMID:30942823 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		JBrowse link
Porokeratosis 3, Multiple Types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 ClinVar PMID:24033266 PMID:25741868 PMID:26202976 PMID:28492532 NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1377680 PMID:8386351 PMID:9334262 PMID:10369261 PMID:10369262 More... NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Sart3 spliceosome associated factor 3, U4/U6 recycling protein ISO ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 ClinVar PMID:15840095 PMID:17392836 NCBI chr12:42,859,026...42,887,041
Ensembl chr12:42,859,305...42,887,038 		JBrowse link
Porokeratosis 7, Multiple Types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mvd mevalonate diphosphate decarboxylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Porokeratosis 7, multiple types		 OMIM
CTD
ClinVar		 PMID:21161278 PMID:25741868 PMID:26202976 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
Porokeratosis 9, Multiple Types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Porokeratosis 9, multiple types
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:26202976 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
Porokeratosis, Disseminated Superficial Actinic, 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc17a9 solute carrier family 17 member 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Porokeratosis 8, disseminated superficial actinic type		 OMIM
CTD
ClinVar		 PMID:25180256 PMID:25741868 NCBI chr 3:167,839,246...167,857,462
Ensembl chr 3:167,839,385...167,855,985 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    sensory system disease 6867
      skin disease 3899
        keratosis 182
          porokeratosis 8
            Congenital Facial Linear Porokeratosis 0
            Craniosynostosis, Anal Anomalies, and Porokeratosis 1
            Porokeratosis 1, Multiple Types 1
            Porokeratosis 2, Palmar, Plantar, and Disseminated Type 0
            Porokeratosis 3, Multiple Types 3
            Porokeratosis 6, Multiple Types 0
            Porokeratosis 7, Multiple Types 1
            Porokeratosis 9, Multiple Types 1
            Porokeratosis, Disseminated Superficial Actinic, 3 0
            Porokeratosis, Disseminated Superficial Actinic, 4 0
            Porokeratosis, Disseminated Superficial Actinic, 8 1
Path 2
Term Annotations click to browse term
  disease 21112
    Pathological Conditions, Signs and Symptoms 13291
      Signs and Symptoms 10731
        Neurologic Manifestations 9971
          sensory system disease 6867
            skin disease 3899
              Genetic Skin Diseases 1836
                porokeratosis 8
                  Congenital Facial Linear Porokeratosis 0
                  Craniosynostosis, Anal Anomalies, and Porokeratosis 1
                  Porokeratosis 1, Multiple Types 1
                  Porokeratosis 2, Palmar, Plantar, and Disseminated Type 0
                  Porokeratosis 3, Multiple Types 3
                  Porokeratosis 6, Multiple Types 0
                  Porokeratosis 7, Multiple Types 1
                  Porokeratosis 9, Multiple Types 1
                  Porokeratosis, Disseminated Superficial Actinic, 3 0
                  Porokeratosis, Disseminated Superficial Actinic, 4 0
                  Porokeratosis, Disseminated Superficial Actinic, 8 1
paths to the root