OBO ID: DOID:0080553 |
Term Name: | congenital disorder of glycosylation Iaa | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0080553 ) |
OTHER congenital disorder of glycosylation Iaa PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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