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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 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 106 | ClinVar Annotator: match by term: Mental retardation, X-linked 106 OMIM
ClinVar		 PMID:9083067 PMID:12724313 PMID:18818698 PMID:21240259 PMID:24033266 More... NCBI chrNW_004955475:11,062,258...11,112,252
Ensembl chrNW_004955475:11,062,076...11,114,169 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14320
    Developmental Disease 12578
      Neurodevelopmental Disorders 6308
        intellectual disability 4008
          non-syndromic intellectual disability 54
            non-syndromic X-linked intellectual disability 50
              non-syndromic X-linked intellectual disability 106 1
Path 2
Term Annotations click to browse term
  disease 14320
    disease of anatomical entity 14026
      nervous system disease 12344
        central nervous system disease 11055
          brain disease 10380
            disease of mental health 7450
              developmental disorder of mental health 5073
                specific developmental disorder 4197
                  intellectual disability 4008
                    non-syndromic intellectual disability 54
                      non-syndromic X-linked intellectual disability 50
                        non-syndromic X-linked intellectual disability 106 1
paths to the root