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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 intellectual developmental disorder 50
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Accession:DOID:0080233 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder 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;   autosomal dominant mental retardation 50
 broad_synonym: NAA15-related syndrome
 primary_id: OMIM:617787

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autosomal dominant intellectual developmental disorder 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: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome OMIM
ClinVar		 PMID:23665959 PMID:25363760 PMID:25741868 PMID:25741909 PMID:26785492 More... NCBI chrNW_004936535:8,219,764...8,301,425
Ensembl chrNW_004936535:8,217,578...8,301,497 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Neurodevelopmental Disorders 6302
        intellectual disability 4008
          autosomal dominant intellectual developmental disorder 405
            autosomal dominant intellectual developmental disorder 50 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              developmental disorder of mental health 5072
                specific developmental disorder 4193
                  intellectual disability 4008
                    autosomal dominant intellectual developmental disorder 405
                      autosomal dominant intellectual developmental disorder 50 1
paths to the root