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Echinobase
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:

Echinobase Genes :


OMIM:
MIM:228930 - fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): bone development disease (is_a)