OBO ID: DOID:0111860
Term Name: AMME complex Search Ontology:
Synonyms:
  • Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
  • AMME syndrome
  • ATS-MR
  • chromosome Xq22.3 telomeric deletion syndrome
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/
References:
Ontology: Human Disease   ( DOID:0111860 )
Relationships
is a type of:
OTHER AMME complex PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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