Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
aspartylglucosaminuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aga aspartylglucosaminidase ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:208400
ClinVar Annotator: match by term: Aspartylglucosaminuria | ClinVar Annotator: match by term: Aspartylglucosaminuria, finnish type		 OMIM
CTD
MouseDO
ClinVar		 PMID:1427775 PMID:1559710 PMID:1703489 PMID:1722323 PMID:1756604 More... NCBI chr16:38,504,661...38,516,607
Ensembl chr16:38,504,663...38,516,606 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          lysosomal storage disease 995
            aspartylglucosaminuria 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            lysosomal storage disease 995
              aspartylglucosaminuria 1
paths to the root