| Metadata | |
|---|---|
| ID | DOID:0070255 |
| Name | congenital disorder of glycosylation type IIc |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. https://www.ncbi.nlm.nih.gov/pubmed/10590041 |
| Xrefs |
SNOMEDCT_US_2023_03_01:234583001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
CDG IIc [EXACT] CDG2C [EXACT] CDGIIc [EXACT] Rambam-Hasharon syndrome [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 |