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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:Mucopolysaccharidosis VIII
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Accession:DOID:9000285 term browser browse the term
Synonyms:exact_synonym: Diferrante Syndrome;   Glucosamine-6-Sulfate Sulfatase Deficiency;   MPS VIII;   mucopolysaccharidosis type VIII
 primary_id: MESH:C563094
 alt_id: RDO:0012507
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 14685
    Nutritional and Metabolic Diseases 5620
      disease of metabolism 5620
        inherited metabolic disorder 3896
          carbohydrate metabolic disorder 1958
            mucopolysaccharidosis 104
              Mucopolysaccharidosis VIII 0
Path 2
Term Annotations click to browse term
  disease 14685
    Developmental Disease 11953
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10737
        genetic disease 10279
          inherited metabolic disorder 3896
            lysosomal storage disease 741
              mucopolysaccharidosis 104
                Mucopolysaccharidosis VIII 0
paths to the root