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Fuhrmann syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.
Uniprot Description Distinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia.
Disease Ontology Description A bone development disease characterized by autosomal recessive inheritance of bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in homozygous mutation in the WNT7A gene on chromosome 3p25.
Mondo Term and Equivalent IDs
MONDO:0009232:  Fuhrmann syndrome
GARD:0002410: 
MESH:C538189: 
Orphanet:2854: 
SCTID:721296004: 
UMLS:C1856728: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)