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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:aspartylglucosaminuria
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Accession:DOID:0050461 term browser browse the term
Definition:A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. (DO)
Synonyms:exact_synonym: AGA deficiencies;   AGA deficiency;   AGU;   aspartylglucosamidase (AGA) deficiency;   aspartylglucosamidase deficiencies;   aspartylglucosamidase deficiency;   aspartylglucosaminidase deficiency;   aspartylglucosaminuria, Finnish type;   aspartylglucosaminurias;   aspartylglycosaminuria;   aspartylglycosaminuria, Finnish type;   aspartylglycosaminurias;   glycoasparaginase;   glycoasparaginases;   glycosylasparaginase deficiency
 primary_id: MESH:D054880
 alt_id: MESH:C538402;   OMIM:208400
 xref: GARD:5854;   NCI:C61273

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Nutritional and Metabolic Diseases 6694
      disease of metabolism 6694
        inherited metabolic disorder 5142
          lysosomal storage disease 874
            aspartylglucosaminuria 1
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          inherited metabolic disorder 5142
            lysosomal storage disease 874
              aspartylglucosaminuria 1
paths to the root