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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


show annotations for term's descendants           Sort by:
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 term: Weill-Marchesani syndrome 3
DNA:missense mutation:CDS:p.V1177M (c.3529G>A) (137854856) (human)		 OMIM
ClinVar
RGD		 PMID:22539340 PMID:23401661 PMID:25741868 PMID:28492532 PMID:22539340 RGD:243049250 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Weill-Marchesani syndrome 6
        Weill-Marchesani Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              Hereditary Eye Diseases 1097
                Weill-Marchesani syndrome 6
                  Weill-Marchesani Syndrome 3 1
paths to the root