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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: MIM: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 2:70,734,234...70,751,205
Ensembl chr 2:70,730,172...70,751,837 		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 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15436
    syndrome 10449
      Weill-Marchesani syndrome 5
        Weill-Marchesani Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 15436
    disease of anatomical entity 15105
      Skin and Connective Tissue Diseases 7054
        connective tissue disease 5380
          bone disease 3877
            bone development disease 2327
              Dwarfism 856
                Weill-Marchesani syndrome 5
                  Weill-Marchesani Syndrome 1 2
paths to the root