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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 2
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Accession:DOID:9001464 term browser browse the term
Synonyms:exact_synonym: GEMMS;   GEMSS Syndrome;   Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature syndrome;   Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome;   WMS2;   Weill Marchesani syndrome, autosomal dominant
 xref: GARD:2452;   MESH:C537679;   MIM:608328;   MONDO:0012013;   ORDO:2084


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Weill-Marchesani Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      Weill-Marchesani syndrome 5
        Weill-Marchesani Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      nervous system disease 14371
        Neurologic Manifestations 10485
          sensory system disease 7403
            eye disease 3738
              lens disease 561
                lens subluxation 9
                  Ectopia Lentis 8
                    Weill-Marchesani Syndrome 2 1
paths to the root