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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 50
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Accession:DOID:0112029 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. (DO)
Synonyms:exact_synonym: MRX50;   X-linked intellectual developmental disorder 50;   X-linked mental retardation 50;   XLID50
 primary_id: MESH:C564713
 alt_id: MIM:300115


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non-syndromic X-linked intellectual disability 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syn1 synapsin I ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9415477 PMID:14985377 PMID:21441247 PMID:25741868 PMID:26467025 More... NCBI chr  X:1,172,208...1,227,400
Ensembl chr  X:1,172,208...1,227,396 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Neurodevelopmental Disorders 6959
        intellectual disability 4386
          non-syndromic intellectual disability 55
            non-syndromic X-linked intellectual disability 51
              non-syndromic X-linked intellectual disability 50 1
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        central nervous system disease 12613
          brain disease 11840
            disease of mental health 8437
              developmental disorder of mental health 5651
                specific developmental disorder 4611
                  intellectual disability 4386
                    non-syndromic intellectual disability 55
                      non-syndromic X-linked intellectual disability 51
                        non-syndromic X-linked intellectual disability 50 1
paths to the root