| Metadata | |
|---|---|
| ID | DOID:0080553 |
| Name | congenital disorder of glycosylation Iaa |
| Definition | A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22. https://www.ncbi.nlm.nih.gov/pubmed/25066056 |
| Xrefs | |
| Synonyms |
congenital disorder of glycosylation 1aa [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 |