midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis Disease Ontology Browser

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Disease Ontology Browser

midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (DOID:0111859)
Alliance: disease page
Synonyms: MFHIEN
Alt IDs: OMIM:300990
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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