Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
humans
|
| gptkbp:alternativeName |
gptkb:tetraamelia
|
| gptkbp:complication |
facial abnormalities
malformations of the head malformations of the heart malformations of the lungs malformations of the nervous system malformations of the urogenital system |
| gptkbp:firstDescribed |
1900s
|
| https://www.w3.org/2000/01/rdf-schema#label |
tetra-amelia syndrome
|
| gptkbp:ICD-10_code |
Q87.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:WNT3_gene
|
| gptkbp:notableCase |
gptkb:Nick_Vujicic
|
| gptkbp:OMIM |
273395
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
absence of all four limbs
|
| gptkbp:bfsParent |
gptkb:WNT3
gptkb:Nick_Vujicic gptkb:Prince_Randian |
| gptkbp:bfsLayer |
7
|