About: autosomal dominant optic atrophy and peripheral neuropathy

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About: autosomal dominant optic atrophy and peripheral neuropathy Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Attributes	Values
rdf:type	Item
exact match	wds:Q55345969-94A1F55E-DDDA-41EA-8CE5-F7666BC6B9E3
exact match	http://www.orpha.net/ORDO/Orphanet_250932
Mondo ID	wds:Q55345969-D2265DD5-E0C9-4A4C-8C0C-5A4B03212C0D
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0016646
Mondo ID	MONDO_0016646
rdfs:label	autosomal dominant optic atrophy and peripheral neuropathy (en)
skos:prefLabel	autosomal dominant optic atrophy and peripheral neuropathy (en)
name	autosomal dominant optic atrophy and peripheral neuropathy (en)
instance of	wds:Q55345969-21B71C07-839E-490C-8BD2-4E92A46831CB wds:Q55345969-C1E47479-3E77-4FCC-A3D4-0721AB269770
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q55345969-0239E8F8-7AD2-4AA6-BA06-627707A2922C wds:Q55345969-4805869A-66AC-4B39-8305-FFF81CDF1E51 wds:Q55345969-512CE09F-98A2-4FFE-8D05-8D3C9DC0411F
subclass of	autosomal dominant optic atrophy rare genetic developmental defect during embryogenesis mitochondrial oxidative phosphorylation disorder with no known mechanism
Orphanet ID	wds:Q55345969-99AEDACD-86AD-44E0-91CA-F09090F16C72
ICD-10-CM	wds:Q55345969-FEA59CEC-4EA9-4EF0-BCD2-4181582C3EDF
Orphanet ID	250932
ICD-10-CM	H47.2
UMLS CUI	wds:Q55345969-73AADB57-586C-4F7A-AC59-AD84F649D9FB
UMLS CUI	C4273829
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55345969

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