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Metadata
ID DOID:0090067
Name Fuhrmann syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/28917830, https://www.omim.org/entry/228930
Xrefs

GARD:2410

ICD10CM:Q74.8

MESH:C538189

OMIM:228930

ORDO:2854

Parent Relationships

is_a bone development disease

is_a autosomal recessive disease

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