Congenital Disorder Of Glycosylation Im
Disease ID: disease_node_20408
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| Dbxref | GARD:12393, MIM:610768, ORDO:91131 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | DOLK-congenital disorder of glycosylation, congenital disorder of glycosylation 1m, dolichol kinase deficiency |
| Doid Label | congenital disorder of glycosylation Im |
| Doid Description | A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20408 |
| Doid Id | DOID_0080565 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Im |
- 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)