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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:Keratolytic Winter Erythema
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Accession:DOID:9003833 term browser browse the term
Synonyms:exact_synonym: Erythrokeratolysis hiemalis ichthyosis;   KWE;   OUDTSHOORN SKIN DISEASE;   Oudtshoorn skin
 primary_id: MESH:C536155;   RDO:0001617
 alt_id: OMIM:148370
For additional species annotation, visit the Alliance of Genome Resources.



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Keratolytic Winter Erythema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsb cathepsin B ISO ClinVar Annotator: match by term: Keratolytic winter erythema OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    sensory system disease 6555
      skin disease 3762
        Erythema 72
          Keratolytic Winter Erythema 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        sensory system disease 6555
          skin disease 3762
            Erythema 72
              Keratolytic Winter Erythema 1
paths to the root