Dataset | OMIM Gene-Disease Associations |
Category | disease or phenotype associations |
Type | phenotype |
Description | Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. (Orphanet Rare Disease Ontology, Orphanet_238459) |
External Link | http://www.omim.org/entry/603585 |
Similar Terms | |
Downloads & Tools |
1 genes associated with the congenital disorder of glycosylation, type iif phenotype from the curated OMIM Gene-Disease Associations dataset.
Symbol | Name |
---|---|
SLC35A1 | solute carrier family 35 (CMP-sialic acid transporter), member A1 |