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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 106
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Accession:DOID:0080240 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1. (DO)
Synonyms:exact_synonym: MRX106;   X-linked intellectual developmental disorder 106;   X-linked mental retardation 106;   XLID106
 primary_id: MIM:300997


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non-syndromic X-linked intellectual disability 106 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OGT O-linked N-acetylglucosamine (GlcNAc) transferase IAGP ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 106
ClinVar Annotator: match by term: Mental retardation, X-linked 106
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 106 | ClinVar Annotator: match by term: Mental retardation, X-linked 106		 ClinVar
OMIM		 PMID:9083067 PMID:12724313 PMID:18818698 PMID:21240259 PMID:24033266 More... NCBI chr  X:71,533,104...71,575,892
Ensembl chr  X:71,533,087...71,575,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    Developmental Disease 35303
      Neurodevelopmental Disorders 16430
        intellectual disability 7287
          non-syndromic intellectual disability 77
            non-syndromic X-linked intellectual disability 72
              non-syndromic X-linked intellectual disability 106 1
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      nervous system disease 53072
        central nervous system disease 38436
          brain disease 36139
            disease of mental health 29592
              developmental disorder of mental health 14911
                specific developmental disorder 9759
                  intellectual disability 7287
                    non-syndromic intellectual disability 77
                      non-syndromic X-linked intellectual disability 72
                        non-syndromic X-linked intellectual disability 106 1
paths to the root