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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:Goldstein Hutt Syndrome
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Accession:DOID:9008020 term browser browse the term
Synonyms:exact_synonym: Long eyelashes, cataract, and hereditary spherocytosis;   Trichomegaly, cataract, and hereditary spherocytosis
 primary_id: MESH:C537282;   RDO:0003096
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 16937
    syndrome 7656
      Goldstein Hutt Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        genetic disease 8408
          inherited metabolic disorder 2447
            bilirubin metabolic disorder 67
              Jaundice 38
                obstructive jaundice 24
                  hereditary spherocytosis 11
                    Goldstein Hutt Syndrome 0
paths to the root