| Metadata | |
|---|---|
| ID | DOID:0111860 |
| Name | AMME complex |
| 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. https://pubmed.ncbi.nlm.nih.gov/12011158/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:720982007 |
| Subsets |
DO_rare_slim |
| Synonyms |
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome [EXACT] AMME syndrome [EXACT] ATS-MR [EXACT] chromosome Xq22.3 telomeric deletion syndrome [EXACT] |
| Parent Relationships |
is_a chromosomal deletion syndrome is_a syndrome |
| Subclass Logical Relationships |
has material basis in some deletion and has material basis in some chromosome |