Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital disorder of glycosylation Im
Summary
- Synonym
-
- DOLK-congenital disorder of glycosylation
- congenital disorder of glycosylation 1m
- dolichol kinase deficiency
- Definition
- 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.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080565
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000958 | Dry skin |
| HP:0003593 | Infantile onset |
| HP:0001662 | Bradycardia |
| HP:0000639 | Nystagmus |
| HP:0002835 | Aspiration |
| HP:0001596 | Alopecia |
| HP:0005484 | Secondary microcephaly |
| HP:0002013 | Vomiting |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001522 | Death in infancy |
