Search Ontology:
Human Disease
congenital disorder of glycosylation type IIe
- Term ID
- DOID:0070257
- Synonyms
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- Carbohydrate deficient glycoprotein syndrome type IIe
- CDG IIe
- CDG syndrome type IIe
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. https://www.ncbi.nlm.nih.gov/pubmed/15107842
- References
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- GARD:9842
- MESH:C535754
- MIM:608779
- Ontology
- Human Disease ( DOID:0070257 )
- is a type of
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Other Pages
Genes Involved
Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
---|---|---|---|---|
COG7 | Congenital disorder of glycosylation, type IIe | congenital disorder of glycosylation type IIe | 608779 |
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Zebrafish Models