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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
For additional species annotation, visit the Alliance of Genome Resources.


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aspartylglucosaminuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aga aspartylglucosaminidase ISO ClinVar Annotator: match by OMIM:208400
ClinVar Annotator: match by term: Aspartylglycosaminuria
ClinVar Annotator: match by term: Aspartylglucosaminuria
ClinVar Annotator: match by term: Aspartylglucosaminuria, finnish type
OMIM
ClinVar
PMID:1559710, PMID:1703489, PMID:1722323, PMID:1756604, PMID:1765378, PMID:1879549, PMID:1904874, PMID:2011603, PMID:2811876, PMID:6883788, PMID:7627186, PMID:7881426, PMID:8172656, PMID:8457202, PMID:8702913, PMID:8776587, PMID:8830180, PMID:9137882, PMID:9737998, PMID:9742145, PMID:10399108, PMID:11309371, PMID:15365992, PMID:18992224, PMID:21228398, PMID:23271757, PMID:24033266, PMID:25456816, PMID:25741868, PMID:27876883, PMID:28492532, PMID:29930972 NCBI chr16:41,222,225...41,234,169
Ensembl chr16:41,222,238...41,234,095
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          aspartylglucosaminuria 1
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          inherited metabolic disorder 2223
            lysosomal storage disease 527
              aspartylglucosaminuria 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.