alacrima, achalasia, and impaired intellectual development syndrome

Summary

DOID:0112321 - alacrima, achalasia, and impaired intellectual development syndrome

Disease Ontology 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.

Synonyms: AAMR, alacrima, achalasia, and mental retardation syndrome

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gmppa

MIM:

MIM:615510 - alacrima, achalasia, and mental retardation syndrome; aamr

MIM:615510 - alacrima, achalasia, and mental retardation syndrome; aamr

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital disorder of glycosylation (is_a)