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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 Acetyltransferase Deficiency
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Accession:DOID:9003648 term browser browse the term
Synonyms:exact_synonym: N acetyltransferase 1 deficiency;   NAT1 deficiency
 primary_id: MESH:C536107;   RDO:0009965
For additional species annotation, visit the Alliance of Genome Resources.



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Ogden syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by OMIM:300855
ClinVar Annotator: match by term: N-terminal acetyltransferase deficiency
OMIM
ClinVar
PMID:18414213 PMID:21700266 PMID:23020937 PMID:25099252 PMID:25326635 More... NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          N Acetyltransferase Deficiency 1
            Ogden syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            N Acetyltransferase Deficiency 1
              Ogden syndrome 1
paths to the root