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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
 alt_id: OMIM:601039



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Neurodevelopmental Disorders 6833
        intellectual disability 4290
          Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 0
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        central nervous system disease 12398
          brain disease 11634
            disease of mental health 8302
              developmental disorder of mental health 5544
                specific developmental disorder 4506
                  intellectual disability 4290
                    Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 0
paths to the root