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ONTOLOGY REPORT - ANNOTATIONS


Term:Weill-Marchesani syndrome
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Accession:DOID:0050475 term browser browse the term
Definition:Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.
Synonyms:exact_synonym: Marchesani Syndrome;   Marchesani-Weill Syndromes;   Spherophakia Brachymorphia Syndrome;   WEILL-MARCHESANI SYNDROME 1;   WMS1;   Weill Marchesani syndrome, autosomal recessive;   congenital mesodermal dysmorphodystrophies;   congenital mesodermal dysmorphodystrophy;   congenital mesodermal dystrophy;   spherophakia brachymorphia syndromes
 primary_id: MESH:D056846
 alt_id: OMIM:277600;   RDO:0007765
 xref: GARD:4936;   ORDO:3449
For additional species annotation, visit the Alliance of Genome Resources.


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Weill-Marchesani syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 JBrowse link 7 18,409,147 18,439,012 RGD:7240710
RGD:8554872
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 JBrowse link 1 127,802,872 128,126,764 RGD:13592920
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:1601144
RGD:8554872
RGD:11554173
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
RGD:11554173
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:9150949
GEMSS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
RGD:7240710
Weill-Marchesani Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:7240710
RGD:8554872
Weill-Marchesani-Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 JBrowse link 1 127,802,872 128,126,764 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Weill-Marchesani syndrome 6
        GEMSS Syndrome 1
        Weill-Marchesani Syndrome 3 1
        Weill-Marchesani-Like Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      musculoskeletal system disease 3973
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              Dwarfism 300
                Weill-Marchesani syndrome 6
                  GEMSS Syndrome 1
                  Weill-Marchesani Syndrome 3 1
                  Weill-Marchesani-Like Syndrome 1
paths to the root