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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:Ogden syndrome
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Accession:DOID:0050781 term browser browse the term
Definition:A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: N-alpha-acetyltransferase;   N-terminal acetyltransferase deficiency;   NATD;   OGDNS;   X-linked malformation and infantile lethality syndrome
 primary_id: OMIM:300855
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:24431331, PMID:25099252, PMID:25326635, PMID:25489052, PMID:25741868, PMID:25987439, PMID:26522270, PMID:27094817, PMID:28327206, PMID:28492532, PMID:28708303, PMID:28967461, PMID:29558889 NCBI chr  X:156,863,655...156,868,950
Ensembl chr  X:156,863,754...156,868,950
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Ogden syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              Neurodevelopmental Disorders 4554
                Developmental Disabilities 641
                  Ogden syndrome 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.