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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 30
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Accession:DOID:0112051 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in PAK3 on chromosome Xq23. (DO)
Synonyms:exact_synonym: MRX30;   MRX47;   X-linked intellectual developmental disorder 30;   X-linked mental retardation 30;   X-linked mental retardation 30/47;   X-linked mental retardation 47;   XLID30
 primary_id: MESH:C563146
 alt_id: MESH:C563151;   OMIM:300558
For additional species annotation, visit the Alliance of Genome Resources.


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non-syndromic X-linked intellectual disability 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by OMIM:300558
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47
ClinVar Annotator: match by term: Mental retardation 30, X-linked
OMIM
ClinVar
PMID:8826460 PMID:9332663 PMID:9731525 PMID:10946356 PMID:12884430 More... NCBI chr  X:107,116,308...107,374,342
Ensembl chr  X:107,260,898...107,368,314
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Neurodevelopmental Disorders 5688
        intellectual disability 3444
          Mental Retardation, X-Linked 719
            non-syndromic X-linked intellectual disability 36
              non-syndromic X-linked intellectual disability 30 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              developmental disorder of mental health 4374
                specific developmental disorder 3633
                  intellectual disability 3444
                    syndromic intellectual disability 761
                      Mental Retardation, X-Linked 719
                        non-syndromic X-linked intellectual disability 36
                          non-syndromic X-linked intellectual disability 30 1
paths to the root