Metadata | |
---|---|
ID | DOID:0070259 |
Name | congenital disorder of glycosylation type IIg |
Definition | A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. https://www.ncbi.nlm.nih.gov/pubmed/16537452 |
Xrefs |
SNOMEDCT_US_2023_03_01:718750004 |
Subsets |
DO_rare_slim |
Synonyms |
Carbohydrate deficient glycoprotein syndrome type IIg [EXACT] CDG IIg [EXACT] CDG2G [EXACT] CDGII/COG1 cerebrocostomandibular-like syndrome [EXACT] CDGIIg [EXACT] |
Parent Relationships |