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

Refsum Disease, Infantile

Loading results...


Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease, Infantile 5 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Zellweger Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Peroxisomal Disorders ∟ Refsum Disease, Infantile 5 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Zellweger Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease, Infantile 5 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Zellweger Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease, Infantile 5 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Zellweger Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease, Infantile 5 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Zellweger Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Peroxisomal Disorders ∟ Refsum Disease, Infantile 5 coordinate concepts ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Zellweger Syndrome X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease, Infantile Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Peroxisomal Disorders ∟ Refsum Disease, Infantile Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease, Infantile Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease, Infantile Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Refsum Disease, Infantile Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Peroxisomal Disorders ∟ Refsum Disease, Infantile Peroxisomal Disorders > Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Peroxisomal Disorders > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Peroxisomal Disorders > Brain Diseases, Metabolic, Inborn > Brain Diseases, Metabolic > Brain Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Peroxisomal Disorders > Brain Diseases, Metabolic, Inborn > Brain Diseases, Metabolic > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Peroxisomal Disorders > Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Peroxisomal Disorders > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Annotation:	do not confuse with REFSUM DISEASE X
History note:	Peroxisomal Disorders (1998-2006) \| Refsum Disease (1986-2006)X
historyNote*:	2007; use PEROXISOMAL DISORDERS 1996-2006 X
publicMeSHNote*:	2007; see PEROXISOMAL DISORDERS 1996-2006 X
Scope note:	An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES. X
activeMeSHYear*:	2007X
dateCreated*:	2006-07-05X
dateEstablished*:	2007-01-01X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	lktX
Type:	Concept X
Coordinate terms:	Acatalasia \| Adrenoleukodystrophy \| Chondrodysplasia Punctata, Rhizomelic \| Refsum Disease \| Zellweger Syndrome X
URI:	X
Labels and equivalent concepts:	Lapsuusiän Refsumin tauti (fi) Refsum's Disease, Infantile (en, replaced) Infantile Refsum's Disease (en, replaced) Infantile Refsum Disease (en, replaced) Infantile Phytanic Acid Storage Disease (en, replaced) X
Share:	X