About: Hereditary neuralgic amyotrophy

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

neuralgic disorder

Attributes	Values
rdf:type	Item
owl:sameAs	Hereditary neuralgic amyotrophy
description	Krankheit (de) malattia (it) хвороба (uk) neuralgic disorder (en)
exact match	wds:Q17141939-0F765EB3-DD15-4F1E-8D2C-577A52DFC9B6
exact match	http://www.orpha.net/ORDO/Orphanet_2901
health specialty	wds:Q17141939-679E9675-80D9-4FBB-BC9B-941A0037BDF5
ICD-10	wds:Q17141939-e14a03d1-4dbc-ca7b-5f50-80106f7df023
Mondo ID	wds:Q17141939-66CACEC4-0AC4-4D7B-83A8-64C1CC851118
DiseasesDB	wds:Q17141939-2C77BCDD-65F4-475C-86FB-3D4ECFE97AD1
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0017362
health specialty	neurology
ICD-10	G54.5
Mondo ID	MONDO_0017362
DiseasesDB	33458
rdfs:label	Hereditary neuralgic amyotrophy (en) Amiotrofia neuralgica hereditaria (es) Hereditäre Neuralgische Amyotrophie (de) amyotrophie névralgique (fr)
skos:prefLabel	Hereditary neuralgic amyotrophy (en) Amiotrofia neuralgica hereditaria (es) Hereditäre Neuralgische Amyotrophie (de) amyotrophie névralgique (fr)
name	Hereditary neuralgic amyotrophy (en) Amiotrofia neuralgica hereditaria (es) Hereditäre Neuralgische Amyotrophie (de) amyotrophie névralgique (fr)
instance of	wds:Q17141939-0ED0FD93-98EC-4CE7-9678-AE2BC16FB057 wds:Q17141939-A3500CB9-A779-441C-A07E-EF1CEC4B6ECB
instance of	class of disease rare disease
subclass of	wds:Q17141939-616ca601-43cc-59a4-5ab9-e7958b61154b
subclass of	amyotrophic neuralgia
KEGG ID	wds:Q17141939-7B970699-21AF-417B-B6B4-E7A4DDF6CFA2
KEGG ID	http://www.kegg.jp/entry/H01131
KEGG ID	H01131
UniProt disease ID	wds:Q17141939-2657abd8-4ab5-e0cf-809c-1db7a3388850
Orphanet ID	wds:Q17141939-1b98ab4c-4b30-f24d-1921-1a6d8d600f53 wds:Q17141939-4DEC96CE-FA30-4DE2-8A89-B9C41ECC447C
genetic association	wds:Q17141939-3A398ABA-FA3B-43F6-95CC-3A4EF0B7DCD2
ICD-10-CM	wds:Q17141939-BB1FE489-4EB8-4DF3-AD99-936A74727039
GARD rare disease ID	wds:Q17141939-41191476-90A5-4DFC-9104-7F6661C53686
OMIM ID	wds:Q17141939-5061b288-45c8-f7af-37da-256782d2a3b8
Genetics Home Reference Conditions ID	wds:Q17141939-347F4616-99AD-43D8-988E-450A85FDABAE
UniProt disease ID	DI-01728
Orphanet ID	2901
genetic association	SEPTIN9
ICD-10-CM	G54.5
GARD rare disease ID	3955
OMIM ID	162100
Genetics Home Reference Conditions ID	hereditary-neuralgic-amyotrophy
skos:altLabel	Brachial plexus neuritis (en) Acute brachial plexus neuritis (en) Immune brachial plexus neuropathy (en) Mononeuritis multiplex with brachial predilection (en) Neuralgic shoulder amyotrophy (en)
UMLS CUI	wds:Q17141939-13B3E5EE-1692-4999-8445-F0F85B9981C3 wds:Q17141939-9DA61065-1241-4D9D-AA89-086BF93CD64A
Microsoft Academic ID	wds:Q17141939-5F281EDE-42C7-404A-9953-85DA1BBD29C2
ICD-11 ID (MMS)	wds:Q17141939-79072c84-19f0-4a02-9e7f-c417d65b3fff
ICD-11 (foundation)	wds:Q17141939-773FF839-6C94-4DF3-A94B-9C499D1F4888
Microsoft Academic ID	https://makg.org/entity/2775989402
UMLS CUI	C1510479 C0221759
Microsoft Academic ID	2775989402
ICD-11 ID (MMS)	8B91.0
ICD-11 (foundation)	302246011
is about of	Hereditary neuralgic amyotrophy https://www.wikidata.org/wiki/Special:EntityData/Q17141939 Hereditary neuralgic amyotrophy https://de.wikipedia.org/wiki/Heredit%C3%A4re_Neuralgische_Amyotrophie https://es.wikipedia.org/wiki/Amiotrofia_neur%C3%A1lgica_hereditaria
is main subject of	Mutations in SEPT9 cause hereditary neuralgic amyotrophy Recurrent brachial plexus neuropathy in a family with subtle dysmorphic features -- a case of hereditary neuralgic amyotrophy Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25 Hypertrophic brachial plexus neuritis: a pathological study of two cases Immune brachial plexus neuropathy: suggestive evidence for an inflammatory-immune pathogenesis Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25 Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25 Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q The natural history of hereditary neuralgic amyotrophy in the Dutch population: two distinct types? Hereditary neuralgic amyotrophy associated with a relapsing multifocal sensory neuropathy Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families Acute brachial plexus neuritis: an uncommon cause of shoulder pain. Treatment for idiopathic and hereditary neuralgic amyotrophy (brachial neuritis) Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling Histology of hereditary neuralgic amyotrophy Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA). Mutation analysis of a putative sialyltransferase gene, theSFRS2splicing factor gene and thec-mybET-locus in two families with hereditary neuralgic amyotrophy (HNA) Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders Hereditary neuralgic amyotrophy: mutation analysis of candidate genes Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous

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