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

Optic Atrophy, Autosomal Dominant

Loading results...


Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Eye Diseases, Hereditary ∟ Optic Atrophies, Hereditary ∟ Optic Atrophy, Autosomal Dominant 9 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Friedreich Ataxia \| ∟ Leigh Disease \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Hereditary, Leber \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Wolfram Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Optic Atrophies, Hereditary ∟ Optic Atrophy, Autosomal Dominant 9 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Friedreich Ataxia \| ∟ Leigh Disease \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Hereditary, Leber \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Wolfram Syndrome Medical Subject Headings (MeSH) ∟ Eye Diseases ∟ Eye Diseases, Hereditary ∟ Optic Atrophies, Hereditary ∟ Optic Atrophy, Autosomal Dominant 9 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Friedreich Ataxia \| ∟ Leigh Disease \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Hereditary, Leber \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Wolfram Syndrome Medical Subject Headings (MeSH) ∟ Eye Diseases ∟ Optic Nerve Diseases ∟ Optic Atrophy ∟ Optic Atrophies, Hereditary ∟ Optic Atrophy, Autosomal Dominant 9 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Friedreich Ataxia \| ∟ Leigh Disease \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Hereditary, Leber \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Wolfram Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Cranial Nerve Diseases ∟ Optic Nerve Diseases ∟ Optic Atrophy ∟ Optic Atrophies, Hereditary ∟ Optic Atrophy, Autosomal Dominant 9 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Friedreich Ataxia \| ∟ Leigh Disease \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Hereditary, Leber \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Wolfram Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Optic Atrophies, Hereditary ∟ Optic Atrophy, Autosomal Dominant 9 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Friedreich Ataxia \| ∟ Leigh Disease \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Hereditary, Leber \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Wolfram Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Mitochondrial Diseases ∟ Optic Atrophy, Autosomal Dominant 9 coordinate concepts ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Friedreich Ataxia \| ∟ Leigh Disease \| ∟ Mitochondrial Myopathies \| ∟ Optic Atrophy, Hereditary, Leber \| ∟ Pyruvate Carboxylase Deficiency Disease \| ∟ Pyruvate Dehydrogenase Complex Deficiency Disease \| ∟ Wolfram Syndrome X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Eye Diseases, Hereditary ∟ Optic Atrophies, Hereditary ∟ Optic Atrophy, Autosomal Dominant Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Optic Atrophies, Hereditary ∟ Optic Atrophy, Autosomal Dominant Medical Subject Headings (MeSH) ∟ Eye Diseases ∟ Eye Diseases, Hereditary ∟ Optic Atrophies, Hereditary ∟ Optic Atrophy, Autosomal Dominant Medical Subject Headings (MeSH) ∟ Eye Diseases ∟ Optic Nerve Diseases ∟ Optic Atrophy ∟ Optic Atrophies, Hereditary ∟ Optic Atrophy, Autosomal Dominant Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Cranial Nerve Diseases ∟ Optic Nerve Diseases ∟ Optic Atrophy ∟ Optic Atrophies, Hereditary ∟ Optic Atrophy, Autosomal Dominant Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Optic Atrophies, Hereditary ∟ Optic Atrophy, Autosomal Dominant Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Mitochondrial Diseases ∟ Optic Atrophy, Autosomal Dominant Optic Atrophies, Hereditary > Eye Diseases, Hereditary > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Optic Atrophies, Hereditary > Heredodegenerative Disorders, Nervous System > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Optic Atrophies, Hereditary > Eye Diseases, Hereditary > Eye Diseases > Medical Subject Headings (MeSH) Optic Atrophies, Hereditary > Optic Atrophy > Optic Nerve Diseases > Eye Diseases > Medical Subject Headings (MeSH) Optic Atrophies, Hereditary > Optic Atrophy > Optic Nerve Diseases > Cranial Nerve Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Optic Atrophies, Hereditary > Heredodegenerative Disorders, Nervous System > Neurodegenerative Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Mitochondrial Diseases > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
History note:	Optic Atrophy (1971-2001) \| Optic Atrophy, Hereditary (1989-2001)X
historyNote*:	2002; use OPTIC ATROPHIES, HEREDITARY 2000-2001 X
publicMeSHNote*:	2002; see OPTIC ATROPHIES, HEREDITARY 2000-2001 X
Scope note:	Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria. X
activeMeSHYear*:	2007X
dateCreated*:	2001-07-25X
dateEstablished*:	2002-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	agsX
recordOriginator*:	nnsX
Type:	Concept X
Coordinate terms:	Carbamoyl-Phosphate Synthase I Deficiency Disease \| Cytochrome-c Oxidase Deficiency \| Friedreich Ataxia \| Leigh Disease \| Mitochondrial Myopathies \| Optic Atrophy, Hereditary, Leber \| Pyruvate Carboxylase Deficiency Disease \| Pyruvate Dehydrogenase Complex Deficiency Disease \| Wolfram Syndrome X
URI:	X
Labels and equivalent concepts:	Autosominen dominantti näköhermon surkastuma (fi) Autosomaalinen dominantti näköhermon surkastuma (fi, replaced) Autosomaalinen dominantti optikusatrofia (fi, replaced) Autosominen dominantti näköhermoatrofia (fi, replaced) Autosominen dominantti optikusatrofia (fi, replaced) Autosomaalinen dominantti näköhermoatrofia (fi, replaced) Optikusatrofi, autosomal dominant (sv) Optic Atrophy, Kjer Type (en, replaced) Dominant Optic Atrophy (en, replaced) Optic Atrophy Type 1 (en, replaced) Optic Atrophy, Hereditary, Autosomal Dominant (en, replaced) Autosomal Dominant Optic Atrophy (en, replaced) X
Share:	X