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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: 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...50,506,389
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Pmvk phosphomevalonate kinase ISS
ISO		 OMIM:175800
ClinVar Annotator: match by term: Linear porokeratosis		 MouseDO
ClinVar		 PMID:30942823 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		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 of Mibelli OMIM
ClinVar		 PMID:26202976 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:28492532 NCBI chr12:42,159,109...42,172,496
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:9334262 PMID:10369261 PMID:10369262 PMID:10401001 More... NCBI chr12:42,141,391...42,158,858
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 ClinVar Annotator: match by term: Porokeratosis 7, multiple types OMIM
ClinVar		 PMID:21161278 PMID:25741868 PMID:26202976 NCBI chr19:50,496,366...50,506,389
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 OMIM
ClinVar		 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 ClinVar Annotator: match by term: Porokeratosis 8, disseminated superficial actinic type OMIM
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 18109
    sensory system disease 6555
      skin disease 3762
        keratosis 144
          porokeratosis 7
            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 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 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        sensory system disease 6555
          skin disease 3762
            keratosis 144
              porokeratosis 7
                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 1
                Porokeratosis, Disseminated Superficial Actinic, 3 0
                Porokeratosis, Disseminated Superficial Actinic, 4 0
                Porokeratosis, Disseminated Superficial Actinic, 8 1
paths to the root