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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;   congenital mesodermal dysmorphodystrophies;   congenital mesodermal dysmorphodystrophy;   congenital mesodermal dystrophy;   spherophakia brachymorphia syndrome;   spherophakia brachymorphia syndromes
 narrow_synonym: Weill Marchesani syndrome, autosomal recessive
 primary_id: MESH:D056846
 xref: GARD:4936;   NCI:C85226;   OMIM:PS277600;   ORDO:3449
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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:8554872
RGD:11554173
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 Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:9150949
Weill-Marchesani Syndrome 1 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:8554872
RGD:7240710
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
Weill-Marchesani Syndrome 2 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 Syndrome 4 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 16022
    syndrome 6143
      Weill-Marchesani syndrome 5
        Weill-Marchesani Syndrome 1 2
        Weill-Marchesani Syndrome 2 1
        Weill-Marchesani Syndrome 3 1
        Weill-Marchesani Syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      Skin and Connective Tissue Diseases 5371
        connective tissue disease 4007
          bone disease 3471
            bone development disease 1263
              Dwarfism 470
                Weill-Marchesani syndrome 5
                  Weill-Marchesani Syndrome 1 2
                  Weill-Marchesani Syndrome 2 1
                  Weill-Marchesani Syndrome 3 1
                  Weill-Marchesani Syndrome 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.