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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:25741868 PMID:30942823 PMID:33005717 NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964 		JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Linear porokeratosis ClinVar PMID:25741868 PMID:30942823 NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818 		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 OMIM
ClinVar		 PMID:25741868 PMID:26202976 PMID:30942823 NCBI chr 1:130,273,246...130,286,614
Ensembl chr 1:133,882,840...133,894,818 		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 chr12:107,130,410...107,150,274
Ensembl chr12:110,528,043...110,544,871 		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 OMIM
ClinVar		 PMID:1377680 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 More... NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524 		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 chr12:106,093,738...106,132,710
Ensembl chr12:109,489,932...109,529,091 		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 ClinVar Annotator: match by term: Porokeratosis 7, multiple types OMIM
ClinVar		 PMID:21161278 PMID:25741868 PMID:26202976 NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964 		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 OMIM
ClinVar		 PMID:26202976 NCBI chr 1:130,653,316...130,665,196
Ensembl chr 1:134,258,968...134,270,237 		JBrowse link
G LOC100983642 putative uncharacterized protein RUSC1-AS1 ISO ClinVar Annotator: match by term: Porokeratosis 9, multiple types ClinVar PMID:26202976 NCBI chr 1:130,662,834...130,668,707 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 ClinVar Annotator: match by term: Porokeratosis 8, disseminated superficial actinic type OMIM
ClinVar		 PMID:25180256 PMID:25741868 NCBI chr20:59,339,779...59,356,396
Ensembl chr20:60,631,969...60,647,278 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      skin disease 3772
        keratosis 181
          porokeratosis 8
            Congenital Facial Linear Porokeratosis 0
            Craniosynostosis, Anal Anomalies, and Porokeratosis 0
            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 2
            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 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6626
            skin disease 3772
              Genetic Skin Diseases 1835
                porokeratosis 8
                  Congenital Facial Linear Porokeratosis 0
                  Craniosynostosis, Anal Anomalies, and Porokeratosis 0
                  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 2
                  Porokeratosis, Disseminated Superficial Actinic, 3 0
                  Porokeratosis, Disseminated Superficial Actinic, 4 0
                  Porokeratosis, Disseminated Superficial Actinic, 8 1
paths to the root