Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:alsoKnownAs |
gptkb:Fuhrmann_syndrome
gptkb:Fuhrmann-Müller-Opitz_syndrome |
| gptkbp:characterizedBy |
ectrodactyly
hypoplasia or aplasia of fibula oligodactyly hypoplasia or aplasia of pelvic bones malformations of the lower limbs |
| gptkbp:firstDescribed |
1914
Rudolf Fuhrmann |
| https://www.w3.org/2000/01/rdf-schema#label |
Fuhrmann's syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:WNT7A_gene
|
| gptkbp:OMIM |
228930
|
| gptkbp:specialty |
genetics
orthopedics |
| gptkbp:bfsParent |
gptkb:Fuhrmann_syndrome
|
| gptkbp:bfsLayer |
8
|