| 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.omim.org/entry/228930, https://www.ncbi.nlm.nih.gov/pubmed/28917830 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |