Search Ontology:
Human Disease
Fuhrmann syndrome
- Term ID
- DOID:0090067
- 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
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- GARD:2410
- ICD10CM:Q74.8
- MESH:C538189
- MIM:228930
- ORDO:2854
- Ontology
- Human Disease ( DOID:0090067 )
- is a type of
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Zebrafish Models