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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 the USP27X gene on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: MRX105;   X-linked intellectual developmental disorder 105;   X-linked mental retardation 105;   XLID105
 primary_id: MIM:300984


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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: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105 OMIM
ClinVar		 PMID:25644381 PMID:25741868 PMID:38182161 NCBI chr  X:15,123,620...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 19100
    Developmental Disease 14598
      Neurodevelopmental Disorders 6946
        intellectual disability 4382
          X-Linked Intellectual Developmental Disorders 824
            non-syndromic X-linked intellectual disability 51
              non-syndromic X-linked intellectual disability 105 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              developmental disorder of mental health 5646
                specific developmental disorder 4603
                  intellectual disability 4382
                    X-Linked Intellectual Developmental Disorders 824
                      non-syndromic X-linked intellectual disability 51
                        non-syndromic X-linked intellectual disability 105 1
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