About: autosomal dominant optic atrophy

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autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss

Attributes	Values
rdf:type	Item
description	seltene angeborene Erkrankung (de) autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss (en)
exact match	wds:Q29982071-61973BF5-C44A-4265-9EF4-6DC057639177
exact match	http://www.orpha.net/ORDO/Orphanet_98672
health specialty	wds:Q29982071-396D5B20-1E56-4B1F-ADA7-8EF06E0B2F3B wds:Q29982071-42A71F59-7463-463C-BF0E-702B56585FD7 wds:Q29982071-A48AD2AE-35A9-4DE2-A490-BEA3A4C1A178 wds:Q29982071-F81E0059-5C32-4883-B414-9299D4D383A5
Mondo ID	wds:Q29982071-C2DD707B-17E2-4819-B723-722F1B0C5B1A
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0020250
health specialty	ophthalmology neurology endocrinology medical genetics
Mondo ID	MONDO_0020250
rdfs:label	Autosomal-dominante Optikusatrophie (de) atrophie optique autosomique dominante (fr) autosomal dominant optic atrophy (en)
skos:prefLabel	Autosomal-dominante Optikusatrophie (de) atrophie optique autosomique dominante (fr) autosomal dominant optic atrophy (en)
name	Autosomal-dominante Optikusatrophie (de) atrophie optique autosomique dominante (fr) autosomal dominant optic atrophy (en)
instance of	wds:Q29982071-1C75860B-ADFC-4A52-9FF0-53026F0B7B5F
instance of	class of disease
subclass of	wds:Q29982071-1f633eca-4cd2-402e-483d-7fe186db7969 wds:Q29982071-2C58C28B-BD37-4760-89D9-4220C8914165 wds:Q29982071-3A0E8A20-65B5-4C97-B1DA-E1A8ADFB0673 wds:Q29982071-CF551112-2043-41CD-B7CC-B3FCAC2F3659
subclass of	optic atrophy eye degenerative disease nervous system heredodegenerative disease hereditary optic atrophy
Orphanet ID	wds:Q29982071-3DD383B3-FFAF-40EE-B48E-B773B52388A5 wds:Q29982071-4f18a47c-4acd-effb-4f00-66dc64a74651
ICD-10-CM	wds:Q29982071-13B4B140-AC93-4E57-B4B1-591AC9505E4F
GARD rare disease ID	wds:Q29982071-ACE10E33-C929-49FE-A2C5-21A4321D7566
Orphanet ID	98672
ICD-10-CM	H47.2
GARD rare disease ID	11972
Commons category	wds:Q29982071-23cceb70-4ccf-2499-6a4b-df9953db7769
Commons category	Autosomal dominant optic atrophy
skos:altLabel	DOA (en) ADOA (en) optic atrophy, autosomal dominant (en)
NCI Thesaurus ID	wds:Q29982071-72EA014E-59E9-48C6-B26E-1732D268C018
UMLS CUI	wds:Q29982071-7FECD619-4E5A-487C-B219-01FF5F90F30C wds:Q29982071-F0B83789-3A87-4640-8168-A1C07719AEE9
MeSH descriptor ID	wds:Q29982071-F20A09FF-F7A8-439F-BBBD-0128ABC60C54
MeSH tree code	wds:Q29982071-0DEF18BC-00C5-405D-9D3A-4A26E17DCC70 wds:Q29982071-32DF2059-DED9-4F88-AFAC-A00C4A51C139 wds:Q29982071-68A2C5EB-FD64-4EBB-A32F-DE1359F0E2ED wds:Q29982071-7DA47A8E-5D8E-415F-97CB-C6BF4B448F48 wds:Q29982071-8B97310F-3B8C-49E9-B8F2-73C2FFC08162 wds:Q29982071-987F2C43-5341-4DBB-A375-E140A4F9DB40 wds:Q29982071-ADF87C85-4F59-4E63-9BEB-2590FE0AE420
ICD-11 (foundation)	wds:Q29982071-4826E4CA-6CB5-48B3-B501-3BBCB56F5221
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/D029241
MeSH tree code	http://id.nlm.nih.gov/mesh/C10.292.700.225.500.100 http://id.nlm.nih.gov/mesh/C10.574.500.662.100 http://id.nlm.nih.gov/mesh/C11.270.564.100 http://id.nlm.nih.gov/mesh/C11.640.451.451.100 http://id.nlm.nih.gov/mesh/C16.320.290.564.100 http://id.nlm.nih.gov/mesh/C16.320.400.630.100 http://id.nlm.nih.gov/mesh/C18.452.660.665
NCI Thesaurus ID	C84577
UMLS CUI	C0338508 C4551508
MeSH descriptor ID	D029241
MeSH tree code	C10.292.700.225.500.100 C10.574.500.662.100 C11.270.564.100 C11.640.451.451.100 C16.320.290.564.100 C16.320.400.630.100 C18.452.660.665
ICD-11 (foundation)	524458469
is owl:sameAs of	autosomal dominant optic atrophy
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q29982071 https://de.wikipedia.org/wiki/Autosomal-dominante_Optikusatrophie Category:Autosomal dominant optic atrophy
is subclass of of	Kjer's optic neuropathy cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome autosomal dominant optic atrophy and cataract autosomal dominant optic atrophy and peripheral neuropathy Al Gazali Khidr Prem Chandran syndrome
is subclass of of	wds:Q2869820-2F7EC81C-673B-4F1D-B2AA-FAFD7A70C789 wds:Q55345901-DDC6F456-E63B-4A3F-910F-3F7658392DBC wds:Q55345969-4805869A-66AC-4B39-8305-FFF81CDF1E51 wds:Q55345670-015EDF27-1B2A-4B8D-9B33-09ACEA1FBF8A wds:Q55346119-0DCD9622-6D69-4BC4-89EB-7B75E30548CA
is main subject of	OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy. Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene

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