Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
congenital malformation |
| gptkbp:affects |
fingers
toes |
| gptkbp:associatedWith |
HOXD13 gene mutation
PTHLH gene mutation |
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:characterizedBy |
shortening of metacarpals
shortening of metatarsals |
| gptkbp:firstDescribed |
1951
|
| https://www.w3.org/2000/01/rdf-schema#label |
brachydactyly type E
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
113300
|
| gptkbp:specialty |
genetics
orthopedics |
| gptkbp:symptom |
short toes
short fingers |
| gptkbp:bfsParent |
gptkb:brachydactyly
|
| gptkbp:bfsLayer |
7
|