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| Term | Fuhrmann syndrome | ID (Ontology) | DOID:0090067 (Human Disease) |
| 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. | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ bone disease | |__bone development disease_____| Fuhrmann syndrome 1 rec. |
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| Is a |
autosomal recessive disease bone development disease |
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External Crossreferences & Linkouts
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GARD:2410 ICD10CM:Q74.8 MESH:C538189 MIM:228930 ORDO:2854 |
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