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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 3
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Accession:DOID:0080249 term browser browse the term
Definition:An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22. (DO)
Synonyms:exact_synonym: OMIM:617525
For additional species annotation, visit the Alliance of Genome Resources.


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erythrokeratodermia variabilis et progressiva 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3 ClinVar
OMIM
PMID:25398053, PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      skin disease 2758
        Erythema 58
          erythrokeratodermia variabilis 7
            erythrokeratodermia variabilis et progressiva 3 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Erythema 58
              erythrokeratodermia variabilis 7
                erythrokeratodermia variabilis et progressiva 3 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.