| Metadata | |
|---|---|
| ID | DOID:0070260 |
| Name | congenital disorder of glycosylation type IIh |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. https://www.ncbi.nlm.nih.gov/pubmed/17220172 |
| Xrefs |
SNOMEDCT_US_2023_03_01:717774004 |
| Subsets |
DO_rare_slim |
| Synonyms |
Carbohydrate deficient glycoprotein syndrome type IIh [EXACT] CDG IIh [EXACT] CDG2H [EXACT] CDGIIh [EXACT] COG8-CDG [EXACT] Congenital disorder of glycosylation type 2h [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |