FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term AMME complex ID (Ontology) DOID:0111860 (Human Disease)
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.
Also Known As "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome" ; "AMME syndrome" ; "ATS-MR" (for all, see Synonyms field below)
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chromosomal disease
 |__chromosomal deletion syndrome__
disease                            |
 |__syndrome_______________________|
                                   AMME complex
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Is a chromosomal deletion syndrome
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Synonyms
  • "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome" EXACT
    "AMME syndrome" EXACT
    "ATS-MR" EXACT OMO:0003012
    "chromosome Xq22.3 telomeric deletion syndrome" EXACT
Secondary IDs
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MESH:C564570
MIM:300194
ORDO:86818
SNOMEDCT_US_2023_03_01:720982007
UMLS_CUI:C1846242