Term Name: | Fuhrmann syndrome |
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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 ) |