Summary Literature (0)

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: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, AMME syndrome, ATS-MR, chromosome Xq22.3 telomeric deletion syndrome

Echinobase Genes :


OMIM:

MIM:300194 - amme complex

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

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