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ONTOLOGY REPORT - ANNOTATIONS


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
 primary_id: OMIM:617787
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autosomal dominant mental retardation 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit JBrowse link 2 140,471,437 140,534,259 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Neurodevelopmental Disorders 4302
        intellectual disability 1940
          autosomal dominant mental retardation 50 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    non-syndromic intellectual disability 248
                      autosomal dominant non-syndromic intellectual disability 168
                        autosomal dominant mental retardation 50 1
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