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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:Weill-Marchesani Syndrome 3
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Accession:DOID:9007248 term browser browse the term
Synonyms:exact_synonym: WMS3
 primary_id: OMIM:614819
For additional species annotation, visit the Alliance of Genome Resources.


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Weill-Marchesani Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by OMIM:614819
ClinVar Annotator: match by term: Weill-Marchesani syndrome 3
OMIM
ClinVar
PMID:22539340 PMID:23401661 PMID:25741868 PMID:28492532 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    syndrome 7744
      Weill-Marchesani syndrome 5
        Weill-Marchesani Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16977
    disease of anatomical entity 16343
      Skin and Connective Tissue Diseases 5682
        connective tissue disease 4374
          bone disease 3055
            bone development disease 1380
              Dwarfism 495
                Weill-Marchesani syndrome 5
                  Weill-Marchesani Syndrome 3 1
paths to the root