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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:N-Acetylaspartate Deficiency
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Accession:DOID:9004612 term browser browse the term
Synonyms:exact_synonym: HYPOACETYLASPARTIA;   NAA DEFICIENCY;   NACED
 primary_id: OMIM:614063;   RDO:9000677



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N-Acetylaspartate Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nat8l N-acetyltransferase 8-like ISO ClinVar Annotator: match by term: N-acetylaspartate deficiency OMIM
ClinVar
PMID:19807691 NCBI chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Nutritional and Metabolic Diseases 8231
      disease of metabolism 8231
        inherited metabolic disorder 6208
          amino acid metabolic disorder 1524
            N-Acetylaspartate Deficiency 1
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          inherited metabolic disorder 6208
            amino acid metabolic disorder 1524
              N-Acetylaspartate Deficiency 1
paths to the root