Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
Genetic disorder |
| gptkbp:affects |
Fingers
Toes |
| gptkbp:associatedWith |
gptkb:GDF5
gptkb:HOXD13 gptkb:IHH |
| gptkbp:causedBy |
Genetic mutation
|
| gptkbp:characterizedBy |
Short fingers
Short toes |
| gptkbp:diagnosedBy |
gptkb:X-rays
Physical examination |
| gptkbp:firstDescribed |
gptkb:Julius_Wolff
19th century |
| https://www.w3.org/2000/01/rdf-schema#label |
Brachydactyly
|
| gptkbp:ICD-10_code |
Q74.0
|
| gptkbp:inheritance |
Autosomal dominant
|
| gptkbp:MeSH_ID |
D001926
|
| gptkbp:OMIM |
112500
|
| gptkbp:subspecies |
gptkb:Brachydactyly_type_D
Brachydactyly type A Brachydactyly type B Brachydactyly type C Brachydactyly type E |
| gptkbp:treatment |
Supportive care
Surgery (rarely) |
| gptkbp:bfsParent |
gptkb:Brachydactyly_type_D
|
| gptkbp:bfsLayer |
8
|