ONKI3 | Medical Subject Headings

The ONKI is provided as a part of the ONKI Living Lab - an open lab for testing the latest semantic web technologies in practice, with real users like you. Currently, over 10 000 people are using ONKI each month.

We hope you like the ONKI service and enjoy using it for your purposes!

If you encounter any problems or have improvement ideas, please contact the ONKI team. We are also very much interested in your success stories in using ONKI - please share your experiences!

The ONKI Team

Jouni Tuominen, Living Lab contact person, APIs, widgets, publishing of ontologies, etc.
Eero Hyvönen, professor, head of research group

Former members: Kim Viljanen, Rami Alatalo.

Building the future of the Semantic Web and beyond.

SeCo's homepage
For the latest semantic news, follow us on Twitter and fan us on Facebook!

How can we help you?

Live presentations about ONKI: what it is? how to use it?
Support for creating and publishing ontologies.
Online technical support for using ONKI.
Co-operation in projects.
And more, please ask.

suomeksi på svenska in English

The way property values are displayed: value/row values side by side

The way concept relations are shown: separately in hierarchy

Carbohydrate-Deficient Glycoprotein Syndrome

Loading results...


Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Carbohydrate-Deficient Glycoprotein Syndrome 12 coordinate concepts ∟ Fructose Metabolism, Inborn Errors \| ∟ Fucosidosis \| ∟ Galactosemias \| ∟ Glucosephosphate Dehydrogenase Deficiency \| ∟ Glycogen Storage Disease \| ∟ Hyperoxaluria, Primary \| ∟ Lactose Intolerance \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucolipidoses \| ∟ Mucopolysaccharidoses \| ∟ Multiple Carboxylase Deficiency \| ∟ Pyruvate Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Carbohydrate-Deficient Glycoprotein Syndrome 12 coordinate concepts ∟ Fructose Metabolism, Inborn Errors \| ∟ Fucosidosis \| ∟ Galactosemias \| ∟ Glucosephosphate Dehydrogenase Deficiency \| ∟ Glycogen Storage Disease \| ∟ Hyperoxaluria, Primary \| ∟ Lactose Intolerance \| ∟ Mannosidase Deficiency Diseases \| ∟ Mucolipidoses \| ∟ Mucopolysaccharidoses \| ∟ Multiple Carboxylase Deficiency \| ∟ Pyruvate Metabolism, Inborn Errors X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Carbohydrate-Deficient Glycoprotein Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Carbohydrate-Deficient Glycoprotein Syndrome Carbohydrate Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Carbohydrate Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Annotation:	an inborn error of carbohydrate metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: CARB DEFIC GLYCOPROTEIN SYNDROME X
History note:	Carbohydrate Metabolism, Inborn Errors (1991-1995) \| Glycoproteins (1977-1995)X
historyNote*:	96 X
publicMeSHNote*:	96 X
Scope note:	An inborn error of carbohydrate metabolism manifesting as a genetic multisystem disorder of autosomal recessive inheritance. A predominant feature is severe central and peripheral nervous system involvement resulting in psychomotor retardation, seizures, cerebellar ataxia, and other symptoms which include growth retardation, retinitis pigmentosa, hypothyroidism, and fatty liver. The notable biochemical feature is the deficiency of a large number of blood glycoproteins and decreased activities of various blood coagulation factors. X
activeMeSHYear*:	2007X
dateCreated*:	1995-05-24X
dateEstablished*:	1996-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	TGCX
Type:	Concept X
Coordinate terms:	Fructose Metabolism, Inborn Errors \| Fucosidosis \| Galactosemias \| Glucosephosphate Dehydrogenase Deficiency \| Glycogen Storage Disease \| Hyperoxaluria, Primary \| Lactose Intolerance \| Mannosidase Deficiency Diseases \| Mucolipidoses \| Mucopolysaccharidoses \| Multiple Carboxylase Deficiency \| Pyruvate Metabolism, Inborn Errors X
URI:	X
Labels and equivalent concepts:	Glykoproteiinien hiilihydraattipuutosoireyhtymä (fi) Glykoproteiinien hiilihydraattipuutossyndrooma (fi, replaced) CDG-syndrom (sv) Kolhydratfattigt glykoprotein-syndrom (sv, replaced) Kolhydratdefekt glykoprotein-syndrom (sv, replaced) Glycoprotein Syndrome, Carbohydrate-Deficient (en, replaced) X
Share:	X