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Human Disease

Fuhrmann syndrome

Term ID
DOID:0090067
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. (2)
References
Ontology
Human Disease   ( DOID:0090067 )
Relationships
is a type of
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Genes Involved
Zebrafish Models