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Summary Literature (0)
DOID:0090067 - Fuhrmann syndrome


Disease Ontology Definition: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.

Synonyms:

In OMIM:
OMIM:228930 - FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY

In Mondo Disease Ontology:
MONDO:0009232 - Fuhrmann syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : wnt7a

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): bone development disease (is_a)