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.


Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Progeria 15 coordinate concepts ∟ Amino Acid Metabolism, Inborn Errors \| ∟ Amino Acid Transport Disorders, Inborn \| ∟ Amyloidosis, Familial \| ∟ Brain Diseases, Metabolic, Inborn \| ∟ Carbohydrate Metabolism, Inborn Errors \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Hyperbilirubinemia, Hereditary \| ∟ Lipid Metabolism, Inborn Errors \| ∟ Lysosomal Storage Diseases \| ∟ Metal Metabolism, Inborn Errors \| ∟ Peroxisomal Disorders \| ∟ Porphyrias \| ∟ Purine-Pyrimidine Metabolism, Inborn Errors \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Steroid Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Progeria 15 coordinate concepts ∟ Amino Acid Metabolism, Inborn Errors \| ∟ Amino Acid Transport Disorders, Inborn \| ∟ Amyloidosis, Familial \| ∟ Brain Diseases, Metabolic, Inborn \| ∟ Carbohydrate Metabolism, Inborn Errors \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Hyperbilirubinemia, Hereditary \| ∟ Lipid Metabolism, Inborn Errors \| ∟ Lysosomal Storage Diseases \| ∟ Metal Metabolism, Inborn Errors \| ∟ Peroxisomal Disorders \| ∟ Porphyrias \| ∟ Purine-Pyrimidine Metabolism, Inborn Errors \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Steroid Metabolism, Inborn Errors X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Progeria Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Progeria Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Scope note:	An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA. X
activeMeSHYear*:	2007X
dateCreated*:	1999-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	NLMX
Related term:	Cockayne Syndrome \| Werner Syndrome X
Type:	Concept X
Coordinate terms:	Amino Acid Metabolism, Inborn Errors \| Amino Acid Transport Disorders, Inborn \| Amyloidosis, Familial \| Brain Diseases, Metabolic, Inborn \| Carbohydrate Metabolism, Inborn Errors \| Cytochrome-c Oxidase Deficiency \| Hyperbilirubinemia, Hereditary \| Lipid Metabolism, Inborn Errors \| Lysosomal Storage Diseases \| Metal Metabolism, Inborn Errors \| Peroxisomal Disorders \| Porphyrias \| Purine-Pyrimidine Metabolism, Inborn Errors \| Renal Tubular Transport, Inborn Errors \| Steroid Metabolism, Inborn Errors X
URI:	X
Labels and equivalent concepts:	Hutchinson-Gilfordin syndrooma (fi, replaced) Hutchinson-Gilfordin oireyhtymä (fi, replaced) Ennenaikainen vanheneminen (fi, replaced) Hutchinson-Gilford Syndrome (en, replaced) Progeria (la-FI, replaced) Syndroma Hutchinson-Gilfordin (la-FI, replaced) X
Share:	X