Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
limbs
|
| gptkbp:alsoKnownAs |
gptkb:Fuhrmann's_syndrome
gptkb:Fuhrmann-Müller-Opitz_syndrome |
| gptkbp:category |
genetic disorder
congenital limb malformation |
| gptkbp:causedBy |
mutation in WNT7A gene
|
| gptkbp:characterizedBy |
nail dysplasia
ectrodactyly hypoplasia or aplasia of fibula hypoplasia or aplasia of ulna oligodactyly |
| gptkbp:firstDescribed |
Fuhrmann in 1969
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fuhrmann syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
228930
|
| gptkbp:bfsParent |
gptkb:WNT7A
|
| gptkbp:bfsLayer |
7
|