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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 Shrimpton type
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Accession:DOID:0060813 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. (DO)
Synonyms:exact_synonym: MRXS9;   syndromic X-linked intellectual developmental disorder 9;   syndromic X-linked mental retardation 9
 primary_id: MESH:C567474
 alt_id: MIM:300709
 xref: ORDO:85324


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    physical disorder 5200
      congenital nervous system abnormality 1539
        microcephaly 1147
          syndromic X-linked intellectual disability Shrimpton type 0
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        central nervous system disease 12636
          brain disease 11856
            disease of mental health 8455
              developmental disorder of mental health 5649
                specific developmental disorder 4612
                  intellectual disability 4385
                    X-Linked Intellectual Developmental Disorders 826
                      syndromic X-linked intellectual disability 620
                        syndromic X-linked intellectual disability Shrimpton type 0
paths to the root