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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 chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Marden-Walker Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                Contracture 96
                  Marden-Walker 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.