WormBase Tree Display for DO_term: DOID:0112321
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| DOID:0112321 | Name | alacrima, achalasia, and impaired intellectual development syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | AAMR | |||
| alacrima, achalasia, and mental retardation syndrome | |||||
| Parent | Is_a | DOID:5212 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 615510 | |
| Attribute_of | Gene_by_orthology | WBGene00021628 |
