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

Hyperthyroxinemia, Familial Dysalbuminemic

Loading results...


Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Hyperthyroxinemia, Familial Dysalbuminemic 35 coordinate concepts ∟ Thyroid Hormone Resistance Syndrome \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Anemia, Hemolytic, Congenital \| ∟ Anemia, Hypoplastic, Congenital \| ∟ Ataxia Telangiectasia \| ∟ Blood Coagulation Disorders, Inherited \| ∟ Brugada Syndrome \| ∟ CADASIL \| ∟ Camurati-Engelmann Syndrome \| ∟ Cardiomyopathy, Hypertrophic, Familial \| ∟ Cherubism \| ∟ Chromosome Disorders \| ∟ Cystic Fibrosis \| ∟ Dwarfism \| ∟ Eye Diseases, Hereditary \| ∟ Familial Mediterranean Fever \| ∟ Genetic Diseases, X-Linked \| ∟ Genetic Diseases, Y-Linked \| ∟ Hajdu-Cheney Syndrome \| ∟ Hemoglobinopathies \| ∟ Heredodegenerative Disorders, Nervous System \| ∟ Jervell-Lange Nielsen Syndrome \| ∟ Kallmann Syndrome \| ∟ Kartagener Syndrome \| ∟ Marfan Syndrome \| ∟ Metabolism, Inborn Errors \| ∟ Muscular Dystrophies \| ∟ Myasthenic Syndromes, Congenital \| ∟ Nail-Patella Syndrome \| ∟ Neoplastic Syndromes, Hereditary \| ∟ Osteogenesis Imperfecta \| ∟ Pain Insensitivity, Congenital \| ∟ Romano-Ward Syndrome \| ∟ Skin Diseases, Genetic \| ∟ Werner Syndrome Medical Subject Headings (MeSH) ∟ Endocrine System Diseases ∟ Thyroid Diseases ∟ Hyperthyroxinemia ∟ Hyperthyroxinemia, Familial Dysalbuminemic 35 coordinate concepts ∟ Thyroid Hormone Resistance Syndrome \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Anemia, Hemolytic, Congenital \| ∟ Anemia, Hypoplastic, Congenital \| ∟ Ataxia Telangiectasia \| ∟ Blood Coagulation Disorders, Inherited \| ∟ Brugada Syndrome \| ∟ CADASIL \| ∟ Camurati-Engelmann Syndrome \| ∟ Cardiomyopathy, Hypertrophic, Familial \| ∟ Cherubism \| ∟ Chromosome Disorders \| ∟ Cystic Fibrosis \| ∟ Dwarfism \| ∟ Eye Diseases, Hereditary \| ∟ Familial Mediterranean Fever \| ∟ Genetic Diseases, X-Linked \| ∟ Genetic Diseases, Y-Linked \| ∟ Hajdu-Cheney Syndrome \| ∟ Hemoglobinopathies \| ∟ Heredodegenerative Disorders, Nervous System \| ∟ Jervell-Lange Nielsen Syndrome \| ∟ Kallmann Syndrome \| ∟ Kartagener Syndrome \| ∟ Marfan Syndrome \| ∟ Metabolism, Inborn Errors \| ∟ Muscular Dystrophies \| ∟ Myasthenic Syndromes, Congenital \| ∟ Nail-Patella Syndrome \| ∟ Neoplastic Syndromes, Hereditary \| ∟ Osteogenesis Imperfecta \| ∟ Pain Insensitivity, Congenital \| ∟ Romano-Ward Syndrome \| ∟ Skin Diseases, Genetic \| ∟ Werner Syndrome X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Hyperthyroxinemia, Familial Dysalbuminemic Medical Subject Headings (MeSH) ∟ Endocrine System Diseases ∟ Thyroid Diseases ∟ Hyperthyroxinemia ∟ Hyperthyroxinemia, Familial Dysalbuminemic Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Hyperthyroxinemia > Thyroid Diseases > Endocrine System Diseases > Medical Subject Headings (MeSH) X
History note:	Serum Albumin (1982-2005) \| Thyroxine (1982-2005)X
historyNote*:	2006 X
publicMeSHNote*:	2006 X
Scope note:	An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum THYROXINE; (T4) in euthyroid patients with abnormal SERUM ALBUMIN that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and TSH are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the ALB gene on CHROMOSOME 4. X
activeMeSHYear*:	2006 \| 2006A \| 2006B \| 2007X
dateCreated*:	2005-06-30X
dateEstablished*:	2006-01-01X
dateRevised*:	2005-08-02X
recordAuthorizer*:	agsX
recordMaintainer*:	agsX
recordOriginator*:	lktX
Type:	Concept X
Coordinate terms:	Thyroid Hormone Resistance Syndrome \| Adrenal Hyperplasia, Congenital \| Anemia, Hemolytic, Congenital \| Anemia, Hypoplastic, Congenital \| Ataxia Telangiectasia \| Blood Coagulation Disorders, Inherited \| Brugada Syndrome \| CADASIL \| Camurati-Engelmann Syndrome \| Cardiomyopathy, Hypertrophic, Familial \| Cherubism \| Chromosome Disorders \| Cystic Fibrosis \| Dwarfism \| Eye Diseases, Hereditary \| Familial Mediterranean Fever \| Genetic Diseases, X-Linked \| Genetic Diseases, Y-Linked \| Hajdu-Cheney Syndrome \| Hemoglobinopathies \| Heredodegenerative Disorders, Nervous System \| Jervell-Lange Nielsen Syndrome \| Kallmann Syndrome \| Kartagener Syndrome \| Marfan Syndrome \| Metabolism, Inborn Errors \| Muscular Dystrophies \| Myasthenic Syndromes, Congenital \| Nail-Patella Syndrome \| Neoplastic Syndromes, Hereditary \| Osteogenesis Imperfecta \| Pain Insensitivity, Congenital \| Romano-Ward Syndrome \| Skin Diseases, Genetic \| Werner Syndrome X
URI:	X
Labels and equivalent concepts:	Suvuittainen dysalbumineeminen hypertyroksinemia (fi) Familiaalinen dysalbumineeminen hypertyroksinemia (fi, replaced) Familial Dysalbuminemic Hyperthyroxinemia (en, replaced) X
Share:	X