Term Name: Fuhrmann syndrome
Synonyms:
Definition: A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25.
Ontology: Human Disease [DOID:0090067]   ( DOID:0090067 )

Relationships
is a type of: autosomal recessive disease bone development disease