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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 IAGP ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 ClinVar
OMIM		 PMID:24817631 PMID:25644381 PMID:25741868 NCBI chr  X:23,983,720...24,027,186
Ensembl chr  X:23,983,716...24,027,186 		JBrowse link
G LOC114022706 Sharpr-MPRA regulatory region 13558 IAGP ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 ClinVar NCBI chr  X:24,005,892...24,006,186 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    Developmental Disease 35303
      Neurodevelopmental Disorders 16430
        intellectual disability 7287
          X-Linked Intellectual Developmental Disorders 1264
            non-syndromic X-linked intellectual disability 72
              non-syndromic X-linked intellectual disability 103 2
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      nervous system disease 53072
        central nervous system disease 38436
          brain disease 36139
            disease of mental health 29592
              developmental disorder of mental health 14911
                specific developmental disorder 9759
                  intellectual disability 7287
                    X-Linked Intellectual Developmental Disorders 1264
                      non-syndromic X-linked intellectual disability 72
                        non-syndromic X-linked intellectual disability 103 2
paths to the root