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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:syndromic X-linked intellectual disability 12
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Accession:DOID:0060804 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. (DO)
Synonyms:exact_synonym: MRXS12;   X-linked intellectual disability, Wilson type;   syndromic X-linked intellectual developmental disorder 12;   syndromic X-linked mental retardation 12
 primary_id: MESH:C564106
 alt_id: OMIM:309545
 xref: ORDO:85290


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Neurodevelopmental Disorders 6833
        intellectual disability 4290
          syndromic intellectual disability 753
            syndromic X-linked intellectual disability 617
              syndromic X-linked intellectual disability 12 0
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        central nervous system disease 12398
          brain disease 11634
            disease of mental health 8302
              developmental disorder of mental health 5544
                specific developmental disorder 4506
                  intellectual disability 4290
                    syndromic intellectual disability 753
                      syndromic X-linked intellectual disability 617
                        syndromic X-linked intellectual disability 12 0
paths to the root