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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 93
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Accession:DOID:0112045 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in BRWD3 on chromosome Xq21.1. (DO)
Synonyms:exact_synonym: MRX93;   X-linked intellectual developmental disorder 93;   X-linked mental retardation 93;   X-linked mental retardation with macrocephaly;   XLID93
 primary_id: MESH:C567066
 alt_id: OMIM:300659
For additional species annotation, visit the Alliance of Genome Resources.


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non-syndromic X-linked intellectual disability 93 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by OMIM:300659
ClinVar Annotator: match by term: Mental retardation, X-linked 93
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY
OMIM
ClinVar
PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 More... NCBI chr  X:73,768,343...73,861,643
Ensembl chr  X:73,774,340...73,861,622
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Neurodevelopmental Disorders 5688
        intellectual disability 3444
          non-syndromic intellectual disability 420
            non-syndromic X-linked intellectual disability 36
              non-syndromic X-linked intellectual disability 93 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 93 1
paths to the root