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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 41
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Accession:DOID:0112058 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 heterozygous mutation in the GDI1 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: MRX41;   MRX48;   X-linked intellectual developmental disorder 41;   X-linked mental retardation 41;   X-linked mental retardation 48;   XLID41
 broad_synonym: GDI1-RELATED CONDITION
 primary_id: MIM:300849


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non-syndromic X-linked intellectual disability 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: GDI1-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 48 OMIM
ClinVar		 PMID:8826463 PMID:9106537 PMID:9620768 PMID:9668174 PMID:25559331 More... NCBI chr  X:157,238,900...157,245,562 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Neurodevelopmental Disorders 6967
        intellectual disability 4381
          X-Linked Intellectual Developmental Disorders 824
            non-syndromic X-linked intellectual disability 51
              non-syndromic X-linked intellectual disability 41 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            disease of mental health 8450
              developmental disorder of mental health 5646
                specific developmental disorder 4609
                  intellectual disability 4381
                    X-Linked Intellectual Developmental Disorders 824
                      non-syndromic X-linked intellectual disability 51
                        non-syndromic X-linked intellectual disability 41 1
paths to the root