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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:Ichthyosis Exfoliativa
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Accession:DOID:9004728 term browser browse the term
Synonyms:primary_id: MESH:C563978
For additional species annotation, visit the Alliance of Genome Resources.


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Ichthyosis Exfoliativa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt2 keratin 2 ISO ClinVar Annotator: match by term: Ichthyosis exfoliativa ClinVar PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 PMID:10233323 NCBI chr 7:143,412,858...143,420,463
Ensembl chr 7:143,412,858...143,420,027
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    sensory system disease 5335
      skin disease 2746
        ichthyosis 62
          Ichthyosis Exfoliativa 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          skin disease 2746
            Skin Abnormalities 633
              ichthyosis 62
                Ichthyosis Exfoliativa 1
paths to the root