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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 IAGP ClinVar Annotator: match by term: Weill-Marchesani syndrome 1
ClinVar Annotator: match by term: ADAMTS10-related condition
ClinVar Annotator: match by term: ADAMTS10-related condition | ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 		ClinVar
OMIM		 PMID:15368195 PMID:16199547 PMID:18567016 PMID:19836009 PMID:25741868 More... NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 ClinVar PMID:22539340 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151016
    syndrome 39258
      Weill-Marchesani syndrome 14
        Weill-Marchesani Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 151016
    disease of anatomical entity 138079
      Skin and Connective Tissue Diseases 31993
        connective tissue disease 23258
          bone disease 16846
            bone development disease 3370
              Dwarfism 1168
                Weill-Marchesani syndrome 14
                  Weill-Marchesani Syndrome 1 2
paths to the root