WormBase Tree Display for DO_term: DOID:0080553
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| DOID:0080553 | Name | congenital disorder of glycosylation Iaa | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | congenital disorder of glycosylation 1aa | |||
| Parent | Is_a | DOID:0050570 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 617082 | |
| Attribute_of | Gene_by_orthology | WBGene00009505 |
