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Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis

Disease ID: disease_node_20386

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Dbxref	MIM:300990
Subclassof	DOID_0080012, DOID_225
Data Source	DOID
Synonyms	MFHIEN
Doid Label	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Doid 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.
Has Material Basis In	GENO_0000149
Disease Node Id	disease_node_20386
Doid Id	DOID_0111859
Label	Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis

Outgoing r'ship SUBCLASS_OF to/from Syndrome(ID:disease_node_7213) (Disease)
Outgoing r'ship SUBCLASS_OF to/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)

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