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ONTOLOGY REPORT - ANNOTATIONS


Term:erythrokeratodermia variabilis et progressiva 1
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Accession:DOID:0111195 term browser browse the term
Definition:An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. (DO)
Synonyms:exact_synonym: EKVP1
 alt_id: OMIM:133200
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erythrokeratodermia variabilis et progressiva 1 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:7240710

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Path 1
Term Annotations click to browse term
  disease 15599
    sensory system disease 4663
      skin disease 2447
        Erythema 59
          erythrokeratodermia variabilis 7
            erythrokeratodermia variabilis et progressiva 1 1
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal dominant disease 2076
                erythrokeratodermia variabilis et progressiva 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.