ONTOLOGY REPORT - ANNOTATIONS


Term:Coffin-Lowry syndrome
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Accession:DOID:3783 term browser browse the term
Definition:A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.
Synonyms:exact_synonym: CLS;   Coffin syndrome;   mental retardation with osteocartilaginous abnormalities
 primary_id: MESH:D038921
 alt_id: OMIM:303600;   RDO:0007496
 xref: GARD:6123
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Coffin-Lowry syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:7240710
RGD:8554872
RGD:11554173

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  disease 14823
    syndrome 4218
      Coffin-Lowry syndrome 1
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              developmental disorder of mental health 2594
                specific developmental disorder 1329
                  intellectual disability 1157
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        Coffin-Lowry syndrome 1
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