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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 92
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Accession:DOID:0112032 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3. (DO)
Synonyms:exact_synonym: MRX92;   X-linked intellectual developmental disorder 92;   X-linked mental retardation 92;   XLID92
 primary_id: MESH:C564483
 alt_id: OMIM:300851


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Neurodevelopmental Disorders 6891
        intellectual disability 4335
          X-Linked Intellectual Developmental Disorders 813
            non-syndromic X-linked intellectual disability 46
              non-syndromic X-linked intellectual disability 92 0
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              developmental disorder of mental health 5587
                specific developmental disorder 4534
                  intellectual disability 4335
                    X-Linked Intellectual Developmental Disorders 813
                      non-syndromic X-linked intellectual disability 46
                        non-syndromic X-linked intellectual disability 92 0
paths to the root