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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;   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
OMIM
PMID:23665959 PMID:25741868 PMID:26785492 PMID:28191889 PMID:28492532 PMID:28990276 PMID:29656860 NCBI chr 2:140,471,437...140,534,259
Ensembl chr 2:140,471,690...140,534,259
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Neurodevelopmental Disorders 4657
        intellectual disability 2190
          autosomal dominant mental retardation 50 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    non-syndromic intellectual disability 268
                      autosomal dominant non-syndromic intellectual disability 175
                        autosomal dominant mental retardation 50 1
paths to the root