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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 2
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Accession:DOID:0112016 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3. (DO)
Synonyms:exact_synonym: MRX2;   X-linked intellectual developmental disorder 2;   X-linked mental retardation 2;   XLID2
 primary_id: MESH:C563135
 alt_id: OMIM:300428


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        intellectual disability 4289
          X-Linked Intellectual Developmental Disorders 806
            non-syndromic X-linked intellectual disability 45
              non-syndromic X-linked intellectual disability 2 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    X-Linked Intellectual Developmental Disorders 806
                      non-syndromic X-linked intellectual disability 45
                        non-syndromic X-linked intellectual disability 2 0
paths to the root