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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 developmental disorder 114
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Accession:DOID:9009260 term browser browse the term
Definition:A disease characterized by impaired intellectual development, agenesis of the corpus callosum, abnormal eye movement, and ataxia. Caused by hemizygous mutation in the SRPK3 gene on chromosome Xq28.
Synonyms:exact_synonym: Intellectual developmental disorder, X-linked 114;   XLID114
 xref: MIM:301134


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Non-syndromic X-linked intellectual developmental disorder 114 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 114 OMIM
ClinVar		 PMID:39073169 NCBI chr  X:156,661,888...156,666,537
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    Developmental Disease 14671
      Neurodevelopmental Disorders 6978
        intellectual disability 4396
          non-syndromic intellectual disability 57
            non-syndromic X-linked intellectual disability 52
              Non-syndromic X-linked intellectual developmental disorder 114 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8477
              developmental disorder of mental health 5661
                specific developmental disorder 4628
                  intellectual disability 4396
                    non-syndromic intellectual disability 57
                      non-syndromic X-linked intellectual disability 52
                        Non-syndromic X-linked intellectual developmental disorder 114 1
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