Congenital Disorder Of Glycosylation Ii
Disease ID: disease_node_20412
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:9836, MIM:607906, ORDO:79326 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation 1i |
| Doid Label | congenital disorder of glycosylation Ii |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20412 |
| Doid Id | DOID_0080561 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Ii |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Disorder Of Glycosylation Type I(ID:disease_node_20399) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)