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erythrokeratodermia variabilis et progressiva 5 - Ontology Report - Rat Genome Database

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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
 broad_synonym: KRT83-RELATED CONDITION
 primary_id: MIM:617756

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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 LOC100523123 keratin, type II cuticular Hb1 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 5 | ClinVar Annotator: match by term: KRT83-related condition OMIM
ClinVar		 PMID:25741868 PMID:27965375 PMID:28492532 NCBI chr 5:17,608,637...17,614,061 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15437
    sensory system disease 6950
      skin disease 4063
        Erythema 71
          erythrokeratodermia variabilis 9
            erythrokeratodermia variabilis et progressiva 5 1
Path 2
Term Annotations click to browse term
  disease 15437
    Pathological Conditions, Signs and Symptoms 12099
      Signs and Symptoms 10157
        Neurologic Manifestations 9842
          sensory system disease 6950
            skin disease 4063
              Erythema 71
                erythrokeratodermia variabilis 9
                  erythrokeratodermia variabilis et progressiva 5 1
paths to the root