ALG2-congenital disorder of glycosylation
http://purl.obolibrary.org/obo/MONDO_0011933
A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive. [ Orphanet:79326 ]
Term info
- GARD:0009836 (MONDO:equivalentTo)
- OMIM:607906 (Orphanet:79326/e)
- Orphanet:79326 (OMIM:607906)
- DOID:0080561 (MONDO:equivalentTo)
ordo_disease
A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.
https://omim.org/entry/607906, http://purl.obolibrary.org/obo/DOID_0080561, http://purl.obolibrary.org/obo/Orphanet_79326
CDG 1I, carbohydrate deficient glycoprotein syndrome type Ii, congenital disorder of glycosylation type Ii, congenital disorder of glycosylation, type Ii, CDG Ii, CDG syndrome type Ii, mannosyltransferase 2 deficiency, congenital disorder of glycosylation type 1i, ALG2-CDG, ALG2-congenital disorder of glycosylation, CDG1I
carbohydrate-deficient glycoprotein syndrome type 1I, ALG2-CDG (CDG-II)
MONDO:0011933