Congenital Disorder Of Glycosylation Icc
Disease ID: disease_node_20398
Connections displayed (default: 10).
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| Dbxref | MIM:301031 |
|---|---|
| Subclassof | DOID_0080012, DOID_0050570 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation type Icc |
| Doid Label | congenital disorder of glycosylation Icc |
| Doid Description | A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_20398 |
| Doid Id | DOID_0111839 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Icc |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Disorder Of Glycosylation Type I(ID:disease_node_20399) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)