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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
 primary_id: MESH:C537679
 alt_id: MIM:608328


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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 IAGP ClinVar Annotator: match by term: Weill-Marchesani syndrome 2
ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2		 ClinVar
OMIM		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 ClinVar PMID:25741868 PMID:28492532 PMID:28659821 NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
ClinVar Annotator: match by term: Weill-Marchesani syndrome 2		 ClinVar PMID:9399842 PMID:11524736 PMID:11748851 PMID:12938084 PMID:14695540 More... NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC126862125 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48821930-48823129 IAGP ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 ClinVar PMID:25741868 NCBI chr15:48,529,733...48,530,932 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant ClinVar PMID:25741868 PMID:27906200 PMID:27930701 PMID:28492532 NCBI chr15:48,644,684...48,644,733 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    syndrome 29836
      Weill-Marchesani syndrome 15
        Weill-Marchesani Syndrome 2 5
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      nervous system disease 53072
        Neurologic Manifestations 32000
          sensory system disease 21102
            eye disease 7770
              lens disease 834
                lens subluxation 19
                  Ectopia Lentis 18
                    Weill-Marchesani Syndrome 2 5
paths to the root