midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

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Summary

Literature (0)

DOID:0111859 - midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

Disease Ontology 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.

Synonyms: MFHIEN

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ammecr1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): syndrome (is_a)