ONTOLOGY REPORT - ANNOTATIONS


Term:erythrokeratodermia variabilis
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Accession:DOID:0050467 term browser browse the term
Definition:An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals often develop PALMOPLANTAR KERATODERMA.
Synonyms:exact_synonym: EKV;   EKVP;   EKVP1;   ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA;   ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1;   Mendes De Costa syndrome;   PSEK;   erythro et keratodermia variabilis;   erythrokeratodermia figurata variabilis;   progressive symmetric erythrokeratodermia
 primary_id: MESH:D056266
 alt_id: OMIM:133200;   RDO:0007739;   RDO:0014904
 xref: OMIM:PS133200
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erythrokeratodermia variabilis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
RGD:11568612
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:1578480
RGD:8554872
RGD:11251416
RGD:12437067
RGD:12436734
RGD:11097171
RGD:12436731
RGD:12436729
RGD:12050153
RGD:11554173
RGD:7240710
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:1598970
RGD:8554872
RGD:12437072
RGD:1598971
erythrokeratodermia variabilis et progressiva 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:8554872
RGD:7240710
erythrokeratodermia variabilis et progressiva 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
RGD:7240710
erythrokeratodermia variabilis et progressiva 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdsr 3-ketodihydrosphingosine reductase JBrowse link 13 26,779,386 26,812,271 RGD:8554872
RGD:7240710
erythrokeratodermia variabilis et progressiva 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt83 keratin 83 JBrowse link 7 143,078,996 143,085,833 RGD:8554872
RGD:7240710
Erythrokeratodermia Variabilis, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:12050155
RGD:12436733
MEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 JBrowse link 12 22,665,128 22,676,079 RGD:7240710
RGD:8554872
RGD:9684947
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        Erythema 58
          erythrokeratodermia variabilis 6
            Erythrokeratodermia Variabilis, Autosomal Recessive 1
            Keratoderma Palmoplantaris Transgrediens 0
            MEDNIK syndrome 1
            erythrokeratodermia variabilis et progressiva 2 1
            erythrokeratodermia variabilis et progressiva 3 1
            erythrokeratodermia variabilis et progressiva 4 1
            erythrokeratodermia variabilis et progressiva 5 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
            Erythema 58
              erythrokeratodermia variabilis 6
                Erythrokeratodermia Variabilis, Autosomal Recessive 1
                Keratoderma Palmoplantaris Transgrediens 0
                MEDNIK syndrome 1
                erythrokeratodermia variabilis et progressiva 2 1
                erythrokeratodermia variabilis et progressiva 3 1
                erythrokeratodermia variabilis et progressiva 4 1
                erythrokeratodermia variabilis et progressiva 5 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.