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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:Dykes Markes Harper Syndrome
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Accession:DOID:9006317 term browser browse the term
Synonyms:exact_synonym: Ichthyosis hepatosplenomegaly cerebellar degeneration;   Ichthyosis, hepatosplenomegaly, and cerebellar degeneration
 primary_id: MESH:C535727
 alt_id: OMIM:242520


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      Dykes Markes Harper Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              Skin Abnormalities 1298
                ichthyosis 91
                  Dykes Markes Harper Syndrome 0
paths to the root