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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 1
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Accession:DOID:9002998 term browser browse the term
Definition:This disease is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma,
Synonyms:exact_synonym: ADAMTS10-RELATED CONDITION;   WMS1
 primary_id: OMIM:277600


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Weill-Marchesani Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 ISO ClinVar Annotator: match by term: ADAMTS10-related condition | ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 OMIM
ClinVar		 PMID:15368195 PMID:16199547 PMID:18567016 PMID:19836009 PMID:25741868 More... NCBI chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 ClinVar PMID:21208200 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 ClinVar PMID:22539340 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 21126
    syndrome 10839
      Weill-Marchesani syndrome 6
        Weill-Marchesani Syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      Skin and Connective Tissue Diseases 7437
        connective tissue disease 5762
          bone disease 4273
            bone development disease 2304
              Dwarfism 863
                Weill-Marchesani syndrome 6
                  Weill-Marchesani Syndrome 1 3
paths to the root