OBO ID: DOID:0090067
Term Name: Fuhrmann syndrome Search Ontology:
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 )
OTHER Fuhrmann syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
WNT7A Fuhrmann syndrome 228930
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None