Disease Index
9,486 diseasesCongenital dislocation of the knee
human disease
ICD: Q68.2
congenital disorder of glycosylation
carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids
MeSH: D018981
congenital disorder of glycosylation Ic
human disease
congenital disorder of glycosylation Id
human disease
congenital disorder of glycosylation Ie
human disease
congenital disorder of glycosylation If
human disease
congenital disorder of glycosylation Ig
human disease
congenital disorder of glycosylation Ih
human disease
congenital disorder of glycosylation Ii
human disease
congenital disorder of glycosylation Ij
human disease
congenital disorder of glycosylation Il
human disease
congenital disorder of glycosylation In
human disease
congenital disorder of glycosylation Ip
human disease
congenital disorder of glycosylation Iq
human disease
congenital disorder of glycosylation Ir
congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has material basis in compound heterozygous mutation in the DDOST gene on chromosome 1p36
congenital disorder of glycosylation It
human disease
MeSH: C567859
congenital disorder of glycosylation Iu
human disease
congenital disorder of glycosylation Iw
congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has material basis in homozygous mutation in the STT3A gene on chromosome 11q24
congenital disorder of glycosylation Ix
human disease
congenital disorder of glycosylation Iy
human disease
congenital disorder of glycosylation type 2o
human disease
congenital disorder of glycosylation type Ia
human disease
congenital disorder of glycosylation type II
congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain
congenital disorder of glycosylation type IIa
congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3
congenital disorder of glycosylation type IIb
congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of MOGS on chromosome 2p13.1
congenital disorder of glycosylation type IIc
genetic disease
congenital disorder of glycosylation type IId
congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of B4GALT1 on chromosome 9p21.1
congenital disorder of glycosylation type IIe
congenital disorder of glycosylation type II that has material basis in a mutation of COG7 on chromosome 16p12.2
congenital disorder of glycosylation type IIf
congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of SLC35A1 on chromosome 6q15
congenital disorder of glycosylation type IIg
congenital disorder of glycosylation type II that has material basis in a mutation of COG1 on chromosome 17q25.1