Congenital Disorder Of Glycosylation Ij
Disease ID: disease_node_20411
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| Dbxref | GARD:9837, MIM:608093, ORDO:86309 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | Congenital disorder of glycosylation 1j |
| Doid Label | congenital disorder of glycosylation Ij |
| Doid Description | A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20411 |
| Doid Id | DOID_0080562 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Ij |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Disorder Of Glycosylation Type I(ID:disease_node_20399) (Disease)