Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
musculoskeletal system
ocular system |
| gptkbp:alsoKnownAs |
gptkb:WMS
|
| gptkbp:characterizedBy |
gptkb:brachydactyly
short stature glaucoma joint stiffness lens dislocation microspherophakia |
| gptkbp:differentialDiagnosis |
gptkb:Marfan_syndrome
gptkb:Homocystinuria |
| gptkbp:firstDescribed |
gptkb:Weill
gptkb:Marchesani 1932 |
| gptkbp:hasOrphanetID |
ORPHA:935
|
| https://www.w3.org/2000/01/rdf-schema#label |
Weill-Marchesani syndrome
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:FBN1
gptkb:ADAMTS10 gptkb:ADAMTS17 gptkb:LTBP2 |
| gptkbp:OMIM |
277600
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:ectopia_lentis
myopia thick skin |
| gptkbp:bfsParent |
gptkb:FBN1_gene
gptkb:FBN1 gptkb:chromosome_15q21.2 |
| gptkbp:bfsLayer |
7
|