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About: Fuhrmann syndrome     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Fuhrmann syndrome
described by
id
  • DOID:0090067
database_cross_reference
  • GARD:2410
  • ICD10CM:Q74.8
  • MESH:C538189
  • OMIM:228930
  • ORDO:2854
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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