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DO Term : Fuhrmann syndrome [DOID:0090067] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 228930,
  • ICD10CM:Q74.8,
  • GARD:2410,
  • ORDO:2854,
  • OMIM:228930,
  • MESH:C538189
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents