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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:Marden-Walker Syndrome
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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;   RDO:0001277
 alt_id: OMIM:248700
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM:248700
ClinVar Annotator: match by term: Marden-Walker syndrome
OMIM
ClinVar
PMID:24726473 PMID:25741868 NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    syndrome 8170
      Marden-Walker Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        peripheral nervous system disease 2569
          neuropathy 2364
            neuromuscular disease 1882
              muscular disease 1285
                Contracture 94
                  Marden-Walker Syndrome 1
paths to the root