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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 58
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Accession:DOID:0112024 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4. (DO)
Synonyms:exact_synonym: MRX58;   TSPAN7-RELATED CONDITION;   X-linked intellectual developmental disorder 58;   X-linked mental retardation 58;   XLID58
 xref: MESH:C564566;   MIM:300210;   MONDO:0010266


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non-syndromic X-linked intellectual disability 58 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 | ClinVar Annotator: match by term: TSPAN7-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10655063 PMID:12376945 PMID:14735593 PMID:25741868 PMID:28492532 NCBI chr  X:14,881,327...14,978,627
Ensembl chr  X:12,208,783...12,306,131 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    Developmental Disease 14671
      Neurodevelopmental Disorders 6978
        intellectual disability 4396
          X-Linked Intellectual Developmental Disorders 825
            non-syndromic X-linked intellectual disability 52
              non-syndromic X-linked intellectual disability 58 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8477
              developmental disorder of mental health 5661
                specific developmental disorder 4628
                  intellectual disability 4396
                    X-Linked Intellectual Developmental Disorders 825
                      non-syndromic X-linked intellectual disability 52
                        non-syndromic X-linked intellectual disability 58 1
paths to the root