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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 14802
    Nutritional and Metabolic Diseases 5731
      disease of metabolism 5731
        inherited metabolic disorder 3992
          carbohydrate metabolic disorder 2025
            mucopolysaccharidosis 106
              Mucopolysaccharidosis VIII 0
Path 2
Term Annotations click to browse term
  disease 14802
    Developmental Disease 12041
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10781
        genetic disease 10327
          inherited metabolic disorder 3992
            lysosomal storage disease 780
              mucopolysaccharidosis 106
                Mucopolysaccharidosis VIII 0
paths to the root