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DO Term : midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [DOID:0111859] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23.
  • synonyms:
  • OMIM:300990,
  • MFHIEN,
  • 300990
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