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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 5
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Accession:DOID:0080251 term browser browse the term
Definition:An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: EKVP5
 primary_id: OMIM:617756
For additional species annotation, visit the Alliance of Genome Resources.



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erythrokeratodermia variabilis et progressiva 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt83 keratin 83 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 5 ClinVar
OMIM
PMID:27965375 NCBI chr 7:132,547,388...132,554,978
Ensembl chr 7:132,548,141...132,554,978
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    sensory system disease 6393
      skin disease 3775
        Erythema 73
          erythrokeratodermia variabilis 9
            erythrokeratodermia variabilis et progressiva 5 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        sensory system disease 6393
          skin disease 3775
            Erythema 73
              erythrokeratodermia variabilis 9
                erythrokeratodermia variabilis et progressiva 5 1
paths to the root