OBO ID: DOID:0112321
Term Name: alacrima, achalasia, and impaired intellectual development syndrome Search Ontology:
Synonyms:
  • AAMR
  • alacrima, achalasia, and mental retardation syndrome
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 GMPPA on chromosome 2q35. https://pubmed.ncbi.nlm.nih.gov/24035193/
References:
Ontology: Human Disease   (DOID:0112321)
OTHER alacrima, achalasia, and impaired intellectual development syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GMPPA Alacrima, achalasia, and impaired intellectual development syndrome 615510
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None