SLC35A1-congenital disorder of glycosylation
SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0005501
congenital disorder of glycosylation type II
is_a
MONDO:0017749
disorder of multiple glycosylation
is_a
CDG syndrome type IIf
exact
CDG-IIf
exact
CDG2F
exact
CMP-sialic acid transporter deficiency
exact
SLC35A1-CDG
exact
SLC35A1-CDG (CDG-IIf)
related
SLC35A1-congenital disorder of glycosylation
exact
carbohydrate deficient glycoprotein syndrome type IIf
exact
congenital disorder of glycosylation type 2f
exact
congenital disorder of glycosylation type IIf
exact
congenital disorder of glycosylation, type IIf
related