| Metadata | |
|---|---|
| ID | DOID:0080565 |
| Name | congenital disorder of glycosylation Im |
| 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. https://ghr.nlm.nih.gov/condition/dolk-congenital-disorder-of-glycosylation, https://www.ncbi.nlm.nih.gov/pubmed/17273964 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital disorder of glycosylation 1m [EXACT] dolichol kinase deficiency [EXACT] DOLK-congenital disorder of glycosylation [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |