FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ID (Ontology) DOID:0111859 (Human Disease)
Definition 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.
Also Known As "MFHIEN"
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DO.org
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 Genes
 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis       1
 for disease ribbon | midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis       1
 model of | midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
disease                         |
 |__syndrome____________________|
                                midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  1 rec.
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Is a X-linked recessive disease
syndrome
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Synonyms
  • "MFHIEN" EXACT OMO:0003012
Secondary IDs
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MIM:300990