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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 mental retardation 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: MRXS35;   syndromic X-linked intellectual developmental disorder 35
 primary_id: OMIM:300998
For additional species annotation, visit the Alliance of Genome Resources.



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syndromic X-linked mental retardation 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 ClinVar
OMIM
PMID:7626060 PMID:18258260 PMID:25316788 PMID:25741868 PMID:25846674 More... NCBI chr  X:152,054,547...152,056,757
Ensembl chr  X:152,054,452...152,056,761
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    Developmental Disease 10942
      Neurodevelopmental Disorders 5698
        intellectual disability 3449
          Mental Retardation, X-Linked 720
            syndromic X-linked intellectual disability 592
              syndromic X-linked mental retardation 35 1
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        central nervous system disease 10393
          brain disease 9755
            disease of mental health 7049
              developmental disorder of mental health 4382
                specific developmental disorder 3638
                  intellectual disability 3449
                    syndromic intellectual disability 762
                      Mental Retardation, X-Linked 720
                        syndromic X-linked intellectual disability 592
                          syndromic X-linked mental retardation 35 1
paths to the root