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Keratolytic Winter Erythema - 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:Keratolytic Winter Erythema
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Accession:DOID:9003833 term browser browse the term
Synonyms:exact_synonym: Erythrokeratolysis hiemalis ichthyosis;   KWE;   Oudtshoorn skin;   Oudtshoorn skin disease
 broad_synonym: CTSB-related condition
 xref: MESH:C536155;   MIM:148370;   MONDO:0007854

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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: CTSB-related condition | ClinVar Annotator: match by term: Keratolytic winter erythema
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    sensory system disease 7372
      skin disease 4308
        Genetic Skin Diseases 1869
          Keratolytic Winter Erythema 1
Path 2
Term Annotations click to browse term
  disease 19145
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7372
            skin disease 4308
              Genetic Skin Diseases 1869
                Keratolytic Winter Erythema 1
paths to the root