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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 96
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Accession:DOID:0112035 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disabillity that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: MRX96;   X-linked intellectual developmental disorder 96;   X-linked mental retardation 96;   XLID96
 primary_id: OMIM:300802
For additional species annotation, visit the Alliance of Genome Resources.


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non-syndromic X-linked intellectual disability 96 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syp synaptophysin ISO ClinVar Annotator: match by OMIM:300802
ClinVar Annotator: match by term: Mental retardation, X-linked 96
OMIM
ClinVar
PMID:19377476 PMID:25741868 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Neurodevelopmental Disorders 5688
        intellectual disability 3444
          Mental Retardation, X-Linked 719
            non-syndromic X-linked intellectual disability 36
              non-syndromic X-linked intellectual disability 96 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              developmental disorder of mental health 4374
                specific developmental disorder 3633
                  intellectual disability 3444
                    syndromic intellectual disability 761
                      Mental Retardation, X-Linked 719
                        non-syndromic X-linked intellectual disability 36
                          non-syndromic X-linked intellectual disability 96 1
paths to the root