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Term:
congenital disorder of glycosylation
(DOID:5212)
Annotations:
Rat: (301)
Mouse: (301)
Human: (352)
Chinchilla: (291)
Bonobo: (296)
Dog: (297)
Squirrel: (292)
Pig: (293)
Parent Terms
Term With Siblings
Child Terms
carbohydrate metabolic disorder
+
physical disorder
+
agnathia-otocephaly complex
autosomal dominant congenital deafness with onychodystrophy
autosomal recessive congenital ichthyosis
+
bladder exstrophy-epispadias-cloacal exstrophy complex
+
blepharophimosis
+
caudal regression syndrome
childhood onset GLUT1 deficiency syndrome 2
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
cleft palate-lateral synechia syndrome
congenital adrenal hyperplasia
+
congenital adrenal insufficiency
congenital afibrinogenemia
+
congenital amegakaryocytic thrombocytopenia
congenital aphakia
congenital bilateral absence of vas deferens
+
congenital bile acid synthesis defect
+
congenital central hypoventilation syndrome
+
congenital chylothorax
congenital contractural arachnodactyly
congenital diaphragmatic hernia
+
congenital diarrhea
+
congenital disorder of glycosylation
+
A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. (DO)
congenital epulis
congenital fibrosarcoma
congenital fibrosis of the extraocular muscles
+
Congenital Foot Deformities
+
congenital generalized lipodystrophy
+
congenital granular cell tumor
congenital heart block
+
congenital heart disease
+
congenital hemolytic anemia
+
congenital hereditary endothelial dystrophy of cornea
congenital hypogammaglobulinemia
congenital hypoplastic anemia
+
congenital hypothyroidism
+
congenital hypotrichosis with juvenile macular dystrophy
congenital intrinsic factor deficiency
congenital lactase deficiency
congenital leptin deficiency
congenital megabladder
congenital mesoblastic nephroma
+
congenital mirror movement disorder
+
congenital muscular dystrophy
+
congenital myasthenic syndrome
+
congenital myopathy
+
congenital nervous system abnormality
+
congenital nystagmus
+
congenital ptosis
+
congenital stationary night blindness
+
congenital stromal corneal dystrophy
congenital structural myopathy
+
congenital sucrase-isomaltase deficiency
congenital syphilis
+
congenital toxoplasmosis
cryptophthalmia
+
D-glyceric aciduria
developmental cardiac valvular defect
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Fructose and Galactose Intolerance
Fructose Metabolism, Inborn Errors
+
fructose-1,6-bisphosphatase deficiency
+
fucosidosis
galactosemia
+
gastroschisis
+
glucose metabolism disease
+
Glucose-Galactose Malabsorption
glucosephosphate dehydrogenase deficiency
+
GLUT1 Deficiency Syndrome
glycerol kinase deficiency
glycogen metabolism disorder
+
glycoproteinosis
+
hyperinsulinemic hypoglycemia
+
Hyperproglucagonemia
hypospadias
+
imperforate anus
+
intestinal disaccharidase deficiency
Klippel-Feil syndrome
+
Lactate Dehydrogenase Deficiency
lactose intolerance
+
large congenital melanocytic nevus
laryngomalacia
+
Leber congenital amaurosis
+
lethal congenital contracture syndrome
+
lethal congenital glycogen storage disease of heart
Mannosidase Deficiency Diseases
+
Meckel's diverticulum
MLS syndrome
+
mucopolysaccharidosis
+
multiple carboxylase deficiency
+
multiple congenital anomalies-hypotonia-seizures syndrome
+
Myopathy with Storage of Glycoproteins and Glycosaminoglycans
neural tube defect
+
NGLY1-deficiency
non-congenital cyst of kidney
nonsyndromic congenital nail disorder
+
Ogden syndrome
omphalocele
orofacial cleft
+
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
pentosuria
PHGDH deficiency
Phosphoenolpyruvate Carboxykinase Deficiency
+
Poland syndrome
polydactyly
+
primary congenital glaucoma
+
primary hyperoxaluria
+
pyruvate carboxylase deficiency disease
+
pyruvate decarboxylase deficiency
+
Pyruvate Metabolism, Inborn Errors
+
radioulnar synostosis
+
rapidly involuting congenital hemangioma
Ribose 5-Phosphate Isomerase Deficiency
severe congenital encephalopathy due to MECP2 mutation
severe congenital neutropenia
+
Silver-Russell syndrome
+
spondyloepiphyseal dysplasia with congenital joint dislocations
Storage of Unusual Polysaccharide
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
TORCH syndrome
Transaldolase Deficiency
Trehalase Deficiency
triosephosphate isomerase deficiency
visceral heterotaxy
+
Xylosidase Deficiency
Zika virus congenital syndrome
alacrima, achalasia, and impaired intellectual development syndrome
congenital disorder of glycosylation type I
+
congenital disorder of glycosylation type II
+
Congenital Disorder of Glycosylation with Defective Fucosylation
+
Congenital Disorder of Glycosylation, Type I/IIx
developmental and epileptic encephalopathy 50
Gillessen-Kaesbach-Nishimura Dysplasia
NGLY1-deficiency
Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities
Synonyms
Exact Synonyms:
carbohydrate-deficient glycoprotein syndrome ; carbohydrate-deficient glycoprotein syndromes ; congenital disorders of glycosylation
Primary IDs:
MESH:D018981
Xrefs:
GARD:10307
;
NCI:C84615
;
ORDO:137
Definition Sources:
http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation
"DO" "DO"