Disease Index
9,486 diseasescongenital disorder of glycosylation type IIh
congenital disorder of glycosylation type II that has material basis in a mutation of COG8 on chromosome 16q22.1
congenital disorder of glycosylation type IIi
congenital disorder of glycosylation type II that has material basis in a mutation of COG5 on chromosome 7q22.3
congenital disorder of glycosylation type IIj
congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of COG4 on chromosome 16q22.1
congenital disorder of glycosylation type IIk
congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of TMEM165 on chromosome 4q12
congenital disorder of glycosylation type IIl
congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of COG6 on chromosome 13q14.11
congenital disorder of glycosylation type IIm
congenital disorder of glycosylation type II that has material basis in an X-linked dominant mutation of SLC35A2 on chromosome Xp11.23
congenital disorder of glycosylation type IIq
congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of COG2 on chromosome 1q42.2
congenital disorder of glycosylation with cardiac malformation as a major feature
human disease
congenital disorder of glycosylation with deafness as a major feature
human disease
congenital disorder of glycosylation with developmental anomaly
human disease
congenital disorder of glycosylation with dilated cardiomyopathy
human disease
congenital disorder of glycosylation with epilepsy as a major feature
human disease
congenital disorder of glycosylation with hepatic involvement
human disease
congenital disorder of glycosylation with intestinal involvement
human disease
congenital disorder of glycosylation with nephropathy as a major feature
human disease
congenital disorder of glycosylation with neurological involvement
human disease
congenital disorder of glycosylation with skin involvement
human disease
congenital disorder of glycosylation-related bone disorder
human disease
Congenital disorder of glycosylation, type Io
Congenital distal spinal muscular atrophy
hereditary condition characterized by muscle wasting
ICD: G12.2
congenital dyserythropoietic anemia
congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood
MeSH: D000742
congenital dyserythropoietic anemia type I
Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis
ICD: D64.4
congenital dyserythropoietic anemia type II
medical condition
ICD: D64.4
congenital dyserythropoietic anemia type III
medical condition
ICD: D64.4
congenital dyserythropoietic anemia type IV
medical condition
ICD: D64.4
congenital ectropion
human disease
congenital ectropion uveae
congenital elbow dislocation, bilateral
human disease
congenital elbow dislocation, unilateral
human disease
congenital enterocyte heparan sulfate deficiency
Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life