Congenital Disorder Of Glycosylation Ik
Disease ID: disease_node_20410
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| Dbxref | GARD:9838, MIM:608540, ORDO:79327 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation 1k |
| Doid Label | congenital disorder of glycosylation Ik |
| Doid Description | A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20410 |
| Doid Id | DOID_0080563 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Ik |
- 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)