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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 ClinVar Annotator: match by OMIM:303600
ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Lowry syndrome
ClinVar Annotator: match by term: Coffin syndrome		 OMIM
ClinVar
CTD		 PMID:5581017 PMID:8955270 PMID:9536098 PMID:9837815 PMID:9887375 PMID:10094187 PMID:10528858 PMID:11180593 PMID:11992250 PMID:12439904 PMID:12558110 PMID:14986828 PMID:15214012 PMID:16199547 PMID:16306095 PMID:16879200 PMID:17576681 PMID:17717706 PMID:18414213 PMID:19377476 PMID:19888300 PMID:21488662 PMID:25044551 PMID:25741868 PMID:28492532 PMID:31319225 PMID:31400053 NCBI chr  X:37,469,736...37,576,055
Ensembl chr  X:37,469,937...37,575,624 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      Coffin-Lowry syndrome 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        central nervous system disease 10374
          brain disease 9730
            disease of mental health 7036
              developmental disorder of mental health 4371
                specific developmental disorder 3629
                  intellectual disability 3441
                    syndromic intellectual disability 759
                      Mental Retardation, X-Linked 717
                        Coffin-Lowry syndrome 1
paths to the root