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

alpha-Mannosidosis

Loading results...


Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Mannosidase Deficiency Diseases ∟ alpha-Mannosidosis 1 coordinate concept ∟ beta-Mannosidosis Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Mannosidase Deficiency Diseases ∟ alpha-Mannosidosis 1 coordinate concept ∟ beta-Mannosidosis Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Mannosidase Deficiency Diseases ∟ alpha-Mannosidosis 1 coordinate concept ∟ beta-Mannosidosis Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Mannosidase Deficiency Diseases ∟ alpha-Mannosidosis 1 coordinate concept ∟ beta-Mannosidosis X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Mannosidase Deficiency Diseases ∟ alpha-Mannosidosis Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Mannosidase Deficiency Diseases ∟ alpha-Mannosidosis Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Mannosidase Deficiency Diseases ∟ alpha-Mannosidosis Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Mannosidase Deficiency Diseases ∟ alpha-Mannosidosis Mannosidase Deficiency Diseases > Carbohydrate Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Mannosidase Deficiency Diseases > Lysosomal Storage Diseases > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Mannosidase Deficiency Diseases > Carbohydrate Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Mannosidase Deficiency Diseases > Lysosomal Storage Diseases > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
History note:	Carbohydrate Metabolism, Inborn Errors (1966-1984) \| Mannose (1966-1984) \| Mannosidases (1975-1984) \| Mannosidosis (1985-2003) \| Metabolism, Inborn Errors (1966-1984)X
historyNote*:	2004(1985); X
publicMeSHNote*:	2004; see MANNOSIDOSIS 1984-2003 X
Scope note:	An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. X
activeMeSHYear*:	2007X
dateCreated*:	1984-05-29X
dateEstablished*:	1985-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	VDKX
Related term:	alpha-Mannosidase X
Type:	Concept X
Coordinate terms:	beta-Mannosidosis X
URI:	X
Labels and equivalent concepts:	Alfa-mannosidoosi (fi) Alfamannosidoosi (fi, replaced) alfa-mannosidos (sv) Mannosidos (sv, replaced) Mannosidosis, alpha B, Lysosomal (en, replaced) alpha-Mannosidase Deficiency (en, replaced) Mannosidosis (la-FI, replaced) X
Share:	X