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

Biotinidase Deficiency

Loading results...


Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Multiple Carboxylase Deficiency ∟ Biotinidase Deficiency 1 coordinate concept ∟ Holocarboxylase Synthetase Deficiency Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Multiple Carboxylase Deficiency ∟ Biotinidase Deficiency 1 coordinate concept ∟ Holocarboxylase Synthetase Deficiency Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Multiple Carboxylase Deficiency ∟ Biotinidase Deficiency 1 coordinate concept ∟ Holocarboxylase Synthetase Deficiency Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Multiple Carboxylase Deficiency ∟ Biotinidase Deficiency 1 coordinate concept ∟ Holocarboxylase Synthetase Deficiency X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Multiple Carboxylase Deficiency ∟ Biotinidase Deficiency Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Multiple Carboxylase Deficiency ∟ Biotinidase Deficiency Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors ∟ Multiple Carboxylase Deficiency ∟ Biotinidase Deficiency Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Multiple Carboxylase Deficiency ∟ Biotinidase Deficiency Multiple Carboxylase Deficiency > Amino Acid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Multiple Carboxylase Deficiency > Carbohydrate Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Multiple Carboxylase Deficiency > Amino Acid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Multiple Carboxylase Deficiency > Carbohydrate Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
History note:	Amidohydrolases/deficiency (1983-2001)X
historyNote*:	2002 X
publicMeSHNote*:	2002 X
Scope note:	The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN. X
activeMeSHYear*:	2007X
dateCreated*:	2001-08-03X
dateEstablished*:	2002-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	nnsX
Related term:	Biotin X
Type:	Concept X
Coordinate terms:	Holocarboxylase Synthetase Deficiency X
URI:	X
Labels and equivalent concepts:	Biotinidaasin puutos (fi) Biotinidaasipuute (fi, replaced) Biotinidaasipuutos (fi, replaced) Biotinidaasin puute (fi, replaced) Biotinidasbrist (sv) Multiple Carboxylase Deficiency, Late-Onset (en, replaced) Deficiency, Biotinidase (en, replaced) Deficiency, Multiple Carboxylase, Late-Onset (en, replaced) Carboxylase Deficiency, Multiple, Late-Onset (en, replaced) X
Share:	X