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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 46
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Accession:DOID:0112055 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26. (DO)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, X-LINKED 46;   MRX46;   X-linked intellectual developmental disorder 46;   X-linked mental retardation 46;   XLID46
 broad_synonym: ARHGEF6-RELATED CONDITION
 primary_id: MESH:C564513
 alt_id: MIM:300436


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non-syndromic X-linked intellectual disability 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked 46 ClinVar PMID:11017088 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Neurodevelopmental Disorders 6946
        intellectual disability 4382
          X-Linked Intellectual Developmental Disorders 824
            non-syndromic X-linked intellectual disability 51
              non-syndromic X-linked intellectual disability 46 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              developmental disorder of mental health 5646
                specific developmental disorder 4603
                  intellectual disability 4382
                    X-Linked Intellectual Developmental Disorders 824
                      non-syndromic X-linked intellectual disability 51
                        non-syndromic X-linked intellectual disability 46 1
paths to the root