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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 KLHL15 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
For additional species annotation, visit the Alliance of Genome Resources.


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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: MENTAL RETARDATION, X-LINKED 103
ClinVar Annotator: match by term: Mental retardation, X-linked 103
ClinVar
OMIM
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 17205
    Developmental Disease 10918
      Neurodevelopmental Disorders 5688
        intellectual disability 3444
          Mental Retardation, X-Linked 719
            non-syndromic X-linked intellectual disability 36
              non-syndromic X-linked intellectual disability 103 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              developmental disorder of mental health 4374
                specific developmental disorder 3633
                  intellectual disability 3444
                    syndromic intellectual disability 761
                      Mental Retardation, X-Linked 719
                        non-syndromic X-linked intellectual disability 36
                          non-syndromic X-linked intellectual disability 103 1
paths to the root