OBO ID: DOID:0112321 |
Term Name: | alacrima, achalasia, and impaired intellectual development syndrome | Search Ontology: | |
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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. https://pubmed.ncbi.nlm.nih.gov/24035193/ | ||
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Ontology: | Human Disease ( DOID:0112321 ) |
OTHER alacrima, achalasia, and impaired intellectual development syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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