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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 19
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Accession:DOID:0112019 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 or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12. (DO)
Synonyms:exact_synonym: MRX19;   X-linked intellectual developmental disorder 19;   X-linked mental retardation 19;   XLID19
 broad_synonym: RPS6KA3-RELATED CONDITION
 primary_id: MESH:C563141
 alt_id: MIM:300844



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non-syndromic X-linked intellectual disability 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10319851 PMID:11180593 PMID:17100996 PMID:19377476 PMID:25741868 More... NCBI chr  X:39,325,926...39,432,017
Ensembl chr  X:35,517,306...35,623,207
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Neurodevelopmental Disorders 6969
        intellectual disability 4383
          X-Linked Intellectual Developmental Disorders 825
            non-syndromic X-linked intellectual disability 51
              non-syndromic X-linked intellectual disability 19 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            disease of mental health 8454
              developmental disorder of mental health 5648
                specific developmental disorder 4610
                  intellectual disability 4383
                    X-Linked Intellectual Developmental Disorders 825
                      non-syndromic X-linked intellectual disability 51
                        non-syndromic X-linked intellectual disability 19 1
paths to the root