ZFIN Human Disease: alacrima, achalasia, and impaired intellectual development syndrome

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 the GMPPA gene on chromosome 2q35. https://pubmed.ncbi.nlm.nih.gov/24035193/
References:	OMIM:615510
Ontology:	Human Disease ( DOID:0112321 )

Relationships

is a type of:	autosomal recessive disease congenital disorder of glycosylation autosomal recessive disease congenital disorder of glycosylation Show first 5 Terms

OTHER alacrima, achalasia, and impaired intellectual development syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GMPPA	gmppab gmppaa	Alacrima, achalasia, and impaired intellectual development syndrome	615510

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None