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DOID:0111860 - AMME complex
Disease Ontology Definition:A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3.
Synonyms: AMME syndrome, ATS-MR, Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, chromosome Xq22.3 telomeric deletion syndrome,
Xenbase Genes
:
ammecr1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
chromosomal deletion syndrome (is_a),
syndrome (is_a)