Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Marden-Walker Syndrome
go back to main search page
Accession:DOID:9000467 term browser browse the term
Synonyms:exact_synonym: Blepharophimosis, micrognathia, immobile facies, kyphoscoliosis, limb contractures, pigeon breast, and arachnodactyly;   Connective Tissue Disorder, Marden-Walker Type;   Generalized connective tissue syndrome;   MWKS;   MWS
 primary_id: MESH:C535910
 alt_id: OMIM:248700
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Marden-Walker Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Marden-Walker syndrome OMIM
ClinVar
PMID:24726473 PMID:25741868 PMID:28492532 NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    syndrome 9798
      Marden-Walker Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      Skin and Connective Tissue Diseases 6836
        connective tissue disease 5158
          bone disease 3832
            bone inflammation disease 1338
              arthropathy 1321
                Contracture 76
                  Marden-Walker Syndrome 1
paths to the root