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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 103
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Accession:DOID:0112020 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11. (DO)
Synonyms:exact_synonym: MRX103;   X-linked intellectual developmental disorder 103;   X-linked mental retardation 103;   XLID103
 primary_id: OMIM:300982


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non-syndromic X-linked intellectual disability 103 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl15 kelch-like family member 15 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24817631 PMID:25644381 PMID:25741868 NCBI chr  X:58,994,726...59,050,207
Ensembl chr  X:58,995,461...59,046,069 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        intellectual disability 4300
          X-Linked Intellectual Developmental Disorders 809
            non-syndromic X-linked intellectual disability 45
              non-syndromic X-linked intellectual disability 103 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    X-Linked Intellectual Developmental Disorders 809
                      non-syndromic X-linked intellectual disability 45
                        non-syndromic X-linked intellectual disability 103 1
paths to the root