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DO Term : frontometaphyseal dysplasia 1 [DOID:0111786] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28.
  • synonyms:
  • OMIM:305620,
  • FMD1,
  • 305620
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Disease

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