Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
skeletal system
|
| gptkbp:alsoKnownAs |
Omodysplasia type 2
|
| gptkbp:characterizedBy |
short stature
facial dysmorphism normal intelligence short upper limbs |
| gptkbp:firstDescribed |
1989
|
| https://www.w3.org/2000/01/rdf-schema#label |
Omodysplasia 2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
FZD2 gene
|
| gptkbp:OMIM |
164745
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
distinct facial features
prominent forehead short fingers normal intelligence depressed nasal bridge elbow dislocation limited elbow extension long philtrum normal lower limb length short femur short humerus |
| gptkbp:bfsParent |
gptkb:FZD2
|
| gptkbp:bfsLayer |
8
|