Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Disease ID: disease_node_13251
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| Dbxref | MIM:615510 |
|---|---|
| Subclassof | DOID_5212, DOID_0050737 |
| Data Source | DOID |
| Synonyms | AAMR, alacrima, achalasia, and mental retardation syndrome |
| Doid Label | alacrima, achalasia, and impaired intellectual development syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13251 |
| Doid Id | DOID_0112321 |
| Label | Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Disorders Of Glycosylation(ID:disease_node_9854) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)