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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:erythrokeratodermia variabilis et progressiva 2
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Accession:DOID:0080248 term browser browse the term
Definition:An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34. (DO)
Synonyms:exact_synonym: EKVP2
 primary_id: MIM:617524


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erythrokeratodermia variabilis et progressiva 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 2 OMIM
ClinVar		 PMID:148984 PMID:6437964 PMID:11017804 PMID:11933201 PMID:12648223 More... NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7326
      skin disease 4308
        Erythema 76
          erythrokeratodermia variabilis 10
            erythrokeratodermia variabilis et progressiva 2 1
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13604
      Signs and Symptoms 11163
        Neurologic Manifestations 10417
          sensory system disease 7326
            skin disease 4308
              Erythema 76
                erythrokeratodermia variabilis 10
                  erythrokeratodermia variabilis et progressiva 2 1
paths to the root