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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 4
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Accession:DOID:0080250 term browser browse the term
Definition:An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21. (DO)
Synonyms:exact_synonym: EKVP4
 primary_id: OMIM:617526


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erythrokeratodermia variabilis et progressiva 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28575652 PMID:28774589 NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      skin disease 3968
        Erythema 76
          erythrokeratodermia variabilis 10
            erythrokeratodermia variabilis et progressiva 4 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              Erythema 76
                erythrokeratodermia variabilis 10
                  erythrokeratodermia variabilis et progressiva 4 1
paths to the root