ONTOLOGY REPORT - ANNOTATIONS


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: Linear Porokeratosis;   Palmoplantar Porokeratosis;   disseminated superficial actinic porokeratosis;   disseminated superficial actinic porokeratosis 2;   punctate porokeratosis;   type 2 punctate PPK
 primary_id: MESH:D017499
 alt_id: RDO:0001882
 xref: GARD:10983;   OMIM:PS175800
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porokeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmvk phosphomevalonate kinase JBrowse link 2 188,784,329 188,793,890 RGD:13592920
Porokeratosis 1, Multiple Types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmvk phosphomevalonate kinase JBrowse link 2 188,784,329 188,793,890 RGD:7240710
RGD:8554872
Porokeratosis 2, Palmar, Plantar, and Disseminated Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
Porokeratosis 7, Multiple Types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mvd mevalonate diphosphate decarboxylase JBrowse link 19 55,258,910 55,268,933 RGD:8554872
RGD:7240710
Porokeratosis 9, Multiple Types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdps farnesyl diphosphate synthase JBrowse link 2 188,403,595 188,413,219 RGD:7240710
RGD:8554872
Porokeratosis, Disseminated Superficial Actinic 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmab metabolism of cobalamin associated B JBrowse link 12 47,920,712 47,935,438 RGD:8554872
G Mvk mevalonate kinase JBrowse link 12 47,904,266 47,920,457 RGD:7240710
RGD:8554872
RGD:11554173
G Sart3 spliceosome associated factor 3, U4/U6 recycling protein JBrowse link 12 48,628,198 48,656,096 RGD:8554872
Porokeratosis, Disseminated Superficial Actinic, 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc17a9 solute carrier family 17 member 9 JBrowse link 3 176,228,433 176,246,971 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        keratosis 125
          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 1
            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 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            keratosis 125
              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 1
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.