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Ontology Browser

Term:
congenital disorder of glycosylation (DOID:5212)
Annotations: Rat: (181) Mouse: (182) Human: (227) Chinchilla: (175) Bonobo: (178) Dog: (180) Squirrel: (177) Pig: (179)
Parent Terms Term With Siblings Child Terms
agnathia-otocephaly complex  
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive congenital ichthyosis +   
bladder exstrophy-epispadias-cloacal exstrophy complex +   
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 secretory chloride diarrhea 1  
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-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 

Synonyms
Exact Synonyms: carbohydrate-deficient glycoprotein syndrome ;   carbohydrate-deficient glycoprotein syndromes ;   congenital disorders of glycosylation
Primary IDs: MESH:D018981
Xrefs: GARD:10307 ;   NCI:C84615 ;   OMIM:PS212065 ;   ORDO:137
Definition Sources: http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation "DO"

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