Fuhrmann-Müller-Opitz syndrome
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
syndrome
rare disease |
| gptkbp:alsoKnownAs |
gptkb:Fuhrmann_syndrome
|
| gptkbp:characterizedBy |
limb malformations
genital anomalies syndactyly hypoplasia or aplasia of fibula oligodactyly |
| gptkbp:firstDescribed |
1979
Hans-Rudolf Müller Johannes Opitz Rudolf Fuhrmann |
| https://www.w3.org/2000/01/rdf-schema#label |
Fuhrmann-Müller-Opitz syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:WNT7A_gene
|
| gptkbp:OMIM |
228930
|
| gptkbp:prevalence |
very rare
|
| gptkbp:bfsParent |
gptkb:Fuhrmann_syndrome
|
| gptkbp:bfsLayer |
8
|