WormBase Tree Display for DO_term: DOID:0080553
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DOID:0080553 | Name | congenital disorder of glycosylation Iaa | |||
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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 (2) | ||||
DB_info | Database | OMIM | disease | 617082 | |
Attribute_of | Gene_by_orthology | WBGene00009505 |