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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 Shashi type
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Accession:DOID:0060826 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. (DO)
Synonyms:exact_synonym: MRXS11;   MRXSSH;   SMRXS;   Shashi X-linked mental retardation syndrome;   X-linked mental retardation, Shashi type;   orofaciodigital syndrome, Shashi type;   syndromic X-linked intellectual disability type 11;   syndromic X-linked mental retardation 11;   syndromic X-linked mental retardation 11, Shashi type;   syndromic intellectual developmental disorder 11, Shashi type
 primary_id: MESH:C537135
 alt_id: OMIM:300238
 xref: ORDO:85286


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syndromic X-linked intellectual disability Shashi type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Shashi type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10677307 PMID:25256757 PMID:25741868 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Neurodevelopmental Disorders 6845
        intellectual disability 4299
          syndromic intellectual disability 757
            syndromic X-linked intellectual disability 618
              syndromic X-linked intellectual disability Shashi type 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4517
                  intellectual disability 4299
                    syndromic intellectual disability 757
                      syndromic X-linked intellectual disability 618
                        syndromic X-linked intellectual disability Shashi type 1
paths to the root