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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: MIM: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 19106
    Developmental Disease 14617
      Neurodevelopmental Disorders 6959
        intellectual disability 4386
          non-syndromic intellectual disability 55
            non-syndromic X-linked intellectual disability 51
              non-syndromic X-linked intellectual disability 45 1
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        central nervous system disease 12613
          brain disease 11840
            disease of mental health 8437
              developmental disorder of mental health 5651
                specific developmental disorder 4611
                  intellectual disability 4386
                    non-syndromic intellectual disability 55
                      non-syndromic X-linked intellectual disability 51
                        non-syndromic X-linked intellectual disability 45 1
paths to the root