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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
OMIM
ClinVar
CTD
PMID:5581017, PMID:8955270, PMID:9837815, PMID:9887375, PMID:10094187, PMID:10528858, PMID:11180593, PMID:11992250, PMID:12439904, PMID:12558110, PMID:14986828, PMID:15214012, PMID:16306095, PMID:16879200, PMID:17717706, PMID:19377476, PMID:19888300, PMID:21488662, PMID:25044551, PMID:25741868, PMID:28492532, PMID:31319225 NCBI chr  X:37,469,736...37,576,055
Ensembl chr  X:37,469,937...37,575,624
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Coffin-Lowry syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    syndromic intellectual disability 684
                      Mental Retardation, X-Linked 661
                        Coffin-Lowry syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.