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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 TSPAN7 on chromosome Xp11.4. (DO)
Synonyms:exact_synonym: MRX58;   X-linked mental retardation 58
 primary_id: MESH:C564566
 alt_id: OMIM:300210
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:300210
ClinVar Annotator: match by term: X-linked mental retardation 58
OMIM
ClinVar
PMID:10449641 PMID:10655063 PMID:12070254 PMID:12376945 PMID:14735593 PMID:25741868 PMID:28492532 NCBI chr  X:13,261,551...13,282,886
Ensembl chr  X:13,261,558...13,279,099
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Neurodevelopmental Disorders 5663
        intellectual disability 3433
          Mental Retardation, X-Linked 717
            non-syndromic X-linked intellectual disability 37
              non-syndromic X-linked intellectual disability 58 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              developmental disorder of mental health 4361
                specific developmental disorder 3621
                  intellectual disability 3433
                    syndromic intellectual disability 759
                      Mental Retardation, X-Linked 717
                        non-syndromic X-linked intellectual disability 37
                          non-syndromic X-linked intellectual disability 58 1
paths to the root