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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:porokeratosis
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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