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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 Pmvk phosphomevalonate kinase ISS OMIM:175800 MouseDO NCBI chr 2:188,784,329...188,793,890
Ensembl chr 2:188,784,222...188,793,895 		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 2:188,784,329...188,793,890
Ensembl chr 2:188,784,222...188,793,895 		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 ClinVar
OMIM		 PMID:21161278 PMID:25741868 PMID:26202976 NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951 		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 2:188,403,595...188,413,219
Ensembl chr 2:188,392,858...188,413,219 		JBrowse link
Porokeratosis, Disseminated Superficial Actinic 1 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, disseminated superficial actinic 1 ClinVar PMID:26202976 NCBI chr12:47,920,712...47,935,438
Ensembl chr12:47,920,743...47,935,525 		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
ClinVar Annotator: match by OMIM:175900		 OMIM
ClinVar
CTD		 PMID:1377680 PMID:8386351 PMID:9334262 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313768 PMID:11313769 PMID:12387810 PMID:12444096 PMID:12563048 PMID:12634869 PMID:15149516 PMID:15188372 PMID:15536479 PMID:15804303 PMID:16255052 PMID:16435210 PMID:16835861 PMID:18414213 PMID:19011501 PMID:19786432 PMID:19877056 PMID:20194276 PMID:21228398 PMID:21399979 PMID:21425920 PMID:21478439 PMID:21548022 PMID:22038276 PMID:22246419 PMID:22983302 PMID:23006543 PMID:23146290 PMID:23692791 PMID:23979089 PMID:23998246 PMID:24033266 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24531851 PMID:24561416 PMID:24781643 PMID:24794831 PMID:25708585 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26202976 PMID:26299986 PMID:26386126 PMID:26633545 PMID:26935981 PMID:26977311 PMID:27012807 PMID:27142780 PMID:27213830 PMID:28095071 PMID:28492532 PMID:28501347 PMID:28814775 PMID:29047407 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400 		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 chr12:48,628,198...48,656,096
Ensembl chr12:48,628,278...48,656,096 		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 ClinVar
OMIM		 PMID:25180256 PMID:25741868 NCBI chr 3:176,228,433...176,246,971
Ensembl chr 3:176,230,378...176,246,953 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    sensory system disease 5336
      skin disease 2747
        keratosis 137
          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 6, Multiple Types 0
            Porokeratosis 7, Multiple Types 1
            Porokeratosis 9, Multiple Types 1
            Porokeratosis, Disseminated Superficial Actinic 1 3
            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 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        sensory system disease 5336
          skin disease 2747
            keratosis 137
              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 6, Multiple Types 0
                Porokeratosis 7, Multiple Types 1
                Porokeratosis 9, Multiple Types 1
                Porokeratosis, Disseminated Superficial Actinic 1 3
                Porokeratosis, Disseminated Superficial Actinic, 3 0
                Porokeratosis, Disseminated Superficial Actinic, 4 0
                Porokeratosis, Disseminated Superficial Actinic, 8 1
paths to the root