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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 105
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Accession:DOID:0112036 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in USP27X on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: MRX105;   X-linked intellectual developmental disorder 105;   X-linked mental retardation 105;   XLID105
 primary_id: OMIM:300984
For additional species annotation, visit the Alliance of Genome Resources.


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non-syndromic X-linked intellectual disability 105 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 105
ClinVar Annotator: match by term: Mental retardation, X-linked 105
ClinVar
OMIM
PMID:25644381 PMID:25741868 NCBI chr  X:15,123,642...15,126,855
Ensembl chr  X:15,124,596...15,125,912
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Neurodevelopmental Disorders 5692
        intellectual disability 3446
          Mental Retardation, X-Linked 719
            non-syndromic X-linked intellectual disability 36
              non-syndromic X-linked intellectual disability 105 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            disease of mental health 7043
              developmental disorder of mental health 4378
                specific developmental disorder 3635
                  intellectual disability 3446
                    syndromic intellectual disability 761
                      Mental Retardation, X-Linked 719
                        non-syndromic X-linked intellectual disability 36
                          non-syndromic X-linked intellectual disability 105 1
paths to the root