ZFIN Human Disease: congenital disorder of glycosylation Ii

OBO ID: DOID:0080561

Term Name:	congenital disorder of glycosylation Ii		Search Ontology:
Synonyms:	congenital disorder of glycosylation 1i
Definition:	A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/12684507
References:	GARD:9836 OMIM:607906 ORDO:79326
Ontology:	Human Disease ( DOID:0080561 )

Relationships

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

OTHER congenital disorder of glycosylation Ii PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ALG2	alg2	Congenital disorder of glycosylation, type Ii	607906

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None