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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:autosomal dominant mental retardation 50
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Accession:DOID:0080233 term browser browse the term
Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. (DO)
Synonyms:exact_synonym: MRD50;   autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities
 broad_synonym: NAA15-related syndrome
 primary_id: OMIM:617787
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal dominant mental retardation 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES
ClinVar
OMIM
PMID:23665959 PMID:25741868 PMID:26785492 PMID:28191889 PMID:28303347 More... NCBI chr 2:135,458,018...135,520,756
Ensembl chr 2:135,457,948...135,520,756
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Neurodevelopmental Disorders 5718
        intellectual disability 3475
          autosomal dominant mental retardation 50 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    non-syndromic intellectual disability 424
                      autosomal dominant non-syndromic intellectual disability 321
                        autosomal dominant mental retardation 50 1
paths to the root