FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term alacrima, achalasia, and impaired intellectual development syndrome ID (Ontology) DOID:0112321 (Human Disease)
Definition A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35.
Also Known As "AAMR" ; "alacrima, achalasia, and mental retardation syndrome"
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 Genes
 alacrima, achalasia, and impaired intellectual development syndrome       1
 for disease ribbon | alacrima, achalasia, and impaired intellectual development syndrome       1
 model of | alacrima, achalasia, and impaired intellectual development syndrome       1
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autosomal genetic disease
 |__autosomal recessive disease___________
physical disorder                         |
 |__congenital disorder of glycosylation__|
carbohydrate metabolic disorder           |
 |__congenital disorder of glycosylation__|
                                          alacrima, achalasia, and impaired intellectual development syndrome  1 rec.
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Is a autosomal recessive disease
congenital disorder of glycosylation
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Synonyms
  • "AAMR" EXACT OMO:0003012
    "alacrima, achalasia, and mental retardation syndrome" EXACT
Secondary IDs
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MIM:615510