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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:X-linked mental retardation Gustavson type
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Accession:DOID:0081123 term browser browse the term
Definition:A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death. (DO)
Synonyms:exact_synonym: GUST;   Gustavson syndrome;   MRXSG;   Mental retardation X-linked severe Gustavson type;   Mental retardation with optic atrophy, deafness, and seizures;   intellectual developmental disorder with optic atrophy, deafness, and seizures;   intellectual developmental disorder, X-linked syndromic, Gustavson type
 primary_id: MESH:C536759
 alt_id: DOID:9000015;   MIM:309555
 xref: GARD:5611;   ORDO:3078


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X-linked mental retardation Gustavson type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbmx RNA binding motif protein, X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES 		OMIM
CTD
ClinVar		 PMID:25741868 NCBI chr  X:140,342,544...140,352,121
Ensembl chr  X:140,345,571...140,352,035 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Anatomical Pathological Conditions 1890
        Atrophy 366
          optic atrophy 266
            X-linked mental retardation Gustavson type 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            disease of mental health 3944
              developmental disorder of mental health 2218
                specific developmental disorder 1593
                  intellectual disability 1376
                    X-Linked Intellectual Developmental Disorders 193
                      syndromic X-linked intellectual disability 68
                        X-linked mental retardation Gustavson type 1
paths to the root