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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:syndromic X-linked intellectual disability 35
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Accession:DOID:0080241 term browser browse the term
Definition:A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 35;   INTELLECTUAL DISABILITY, X-LINKED, SYNDROMIC, 35;   MRXS35;   syndromic X-linked intellectual developmental disorder 35;   syndromic X-linked mental retardation 35
 xref: MIM:300998;   MONDO:0030908


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syndromic X-linked intellectual disability 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl10 ribosomal protein L10 susceptibility ISO ClinVar Annotator: match by term: Intellectual disability, X-linked, syndromic, 35 ClinVar
OMIM		 PMID:7626060 PMID:18258260 PMID:25316788 PMID:25741868 PMID:25846674 More... NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      Neurodevelopmental Disorders 6942
        intellectual disability 4381
          X-Linked Intellectual Developmental Disorders 821
            syndromic X-linked intellectual disability 618
              syndromic X-linked intellectual disability 35 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        central nervous system disease 12591
          brain disease 11816
            disease of mental health 8412
              developmental disorder of mental health 5643
                specific developmental disorder 4601
                  intellectual disability 4381
                    X-Linked Intellectual Developmental Disorders 821
                      syndromic X-linked intellectual disability 618
                        syndromic X-linked intellectual disability 35 1
paths to the root