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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 100
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Accession:DOID:0112040 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. (DO)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, X-LINKED 100;   MRX100;   X-linked intellectual developmental disorder 100;   X-linked mental retardation 100;   XLID100
 broad_synonym: KIF4A-RELATED CONDITION
 primary_id: OMIM:300923


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non-syndromic X-linked intellectual disability 100 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif4a kinesin family member 4A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual disability, X-linked 100		 OMIM
CTD
ClinVar		 PMID:24812067 PMID:25741868 PMID:28492532 PMID:34346154 NCBI chr  X:65,721,746...65,824,277
Ensembl chr  X:65,721,779...65,824,139 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        intellectual disability 4300
          X-Linked Intellectual Developmental Disorders 809
            non-syndromic X-linked intellectual disability 45
              non-syndromic X-linked intellectual disability 100 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    X-Linked Intellectual Developmental Disorders 809
                      non-syndromic X-linked intellectual disability 45
                        non-syndromic X-linked intellectual disability 100 1
paths to the root