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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: MIM: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 OMIM
ClinVar		 PMID:24817631 PMID:25644381 PMID:25741868 NCBI chr  X:20,088,208...20,130,452
Ensembl chr  X:20,091,904...20,129,561 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15399
    Developmental Disease 13447
      Neurodevelopmental Disorders 6763
        intellectual disability 4273
          X-Linked Intellectual Developmental Disorders 811
            non-syndromic X-linked intellectual disability 54
              non-syndromic X-linked intellectual disability 103 1
Path 2
Term Annotations click to browse term
  disease 15399
    disease of anatomical entity 15091
      nervous system disease 13242
        central nervous system disease 11821
          brain disease 11102
            disease of mental health 8012
              developmental disorder of mental health 5461
                specific developmental disorder 4470
                  intellectual disability 4273
                    X-Linked Intellectual Developmental Disorders 811
                      non-syndromic X-linked intellectual disability 54
                        non-syndromic X-linked intellectual disability 103 1
paths to the root