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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:non-syndromic X-linked intellectual disability 82
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Accession:DOID:0112052 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25. (DO)
Synonyms:exact_synonym: MRX82;   X-linked mental retardation 82
 primary_id: MESH:C564496
 alt_id: OMIM:300518
For additional species annotation, visit the Alliance of Genome Resources.


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non-syndromic X-linked intellectual disability 82 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO OMIM NCBI chr  X:123,713,327...123,731,431
Ensembl chr  X:123,713,339...123,731,385
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Neurodevelopmental Disorders 5663
        intellectual disability 3433
          Mental Retardation, X-Linked 717
            non-syndromic X-linked intellectual disability 37
              non-syndromic X-linked intellectual disability 82 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              developmental disorder of mental health 4361
                specific developmental disorder 3621
                  intellectual disability 3433
                    syndromic intellectual disability 759
                      Mental Retardation, X-Linked 717
                        non-syndromic X-linked intellectual disability 37
                          non-syndromic X-linked intellectual disability 82 1
paths to the root