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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:Coffin-Lowry syndrome
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Accession:DOID:3783 term browser browse the term
Definition:A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: CLS;   Coffin syndrome;   mental retardation with osteocartilaginous abnormalities
 primary_id: MESH:D038921
 alt_id: OMIM:303600
 xref: GARD:6123;   NCI:C84643
For additional species annotation, visit the Alliance of Genome Resources.



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Coffin-Lowry syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps6ka3 ribosomal protein S6 kinase A3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin syndrome | ClinVar Annotator: match by term: Coffin-Lowry syndrome
OMIM
CTD
ClinVar
PMID:8955270 PMID:9536098 PMID:9837815 PMID:9887375 PMID:10094187 More... NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Coffin-Lowry syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3879
                    X-Linked Intellectual Developmental Disorders 751
                      Coffin-Lowry syndrome 1
paths to the root