Search Ontology:
Human Disease
congenital disorder of glycosylation type IId
- Term ID
- DOID:0070256
- Synonyms
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- CDG IId
- CDG2D
- CDGIId
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. https://www.ncbi.nlm.nih.gov/pubmed/11901181
- References
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- GARD:9841
- MESH:C535753
- MIM:607091
- ORDO:79332
- SNOMEDCT_US_2023_03_01:725587007
- UMLS_CUI:C2931009
- Ontology
- Human Disease ( DOID:0070256 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models