About   Help   FAQ
Disease Ontology Browser
AMME complex (DOID:0111860)
Alliance: disease page
Synonyms: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME syndrome; ATS-MR; chromosome Xq22.3 telomeric deletion syndrome
Alt IDs: OMIM:300194, MESH:C564570, ORDO:86818, UMLS_CUI:C1846242
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.

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
MGI 6.23
The Jackson Laboratory