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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 45
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Accession:DOID:0112028 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. (DO)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, X-LINKED 45;   MRX45;   X-linked intellectual developmental disorder 45;   X-linked mental retardation 45;   XLID45
 primary_id: MESH:C564503
 alt_id: OMIM:300498


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non-syndromic X-linked intellectual disability 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 45 ClinVar PMID:10398246 PMID:15121780 NCBI chr  X:1,030,103...1,126,078
Ensembl chr  X:1,036,153...1,126,102 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Neurodevelopmental Disorders 6845
        intellectual disability 4299
          non-syndromic intellectual disability 49
            non-syndromic X-linked intellectual disability 45
              non-syndromic X-linked intellectual disability 45 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4517
                  intellectual disability 4299
                    non-syndromic intellectual disability 49
                      non-syndromic X-linked intellectual disability 45
                        non-syndromic X-linked intellectual disability 45 1
paths to the root