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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-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
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Accession:DOID:9000964 term browser browse the term
Synonyms:primary_id: MESH:C563402;   RDO:0012667
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    sensory system disease 5580
      skin disease 2943
        Skin Abnormalities 763
          Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 0
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              developmental disorder of mental health 4361
                specific developmental disorder 3621
                  intellectual disability 3433
                    Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 0
paths to the root