About: Brown-Vialetto-Van Laere syndrome

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About: Brown-Vialetto-Van Laere syndrome Goto Sponge NotDistinct Permalink

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

Human disease

Attributes	Values
rdf:type	Item
owl:sameAs	Brown-Vialetto-Van Laere syndrome
description	Krankheit (de) Human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar)
exact match	wds:Q4976847-947A340F-34F9-40C7-BDDB-A14F06EFAC39 wds:Q4976847-E05C3F39-4E52-4844-9D1A-0E17B4BC552A
exact match	http://purl.obolibrary.org/obo/DOID_0050694 http://identifiers.org/doid/DOID:0050694
Mondo ID	wds:Q4976847-1FBD8A50-34D9-42FC-B1F4-5439692D94F1
DiseasesDB	wds:q4976847-C8CDACAF-55A7-4B33-BA81-0DC13A142C99
Disease Ontology ID	wds:Q4976847-CE35CA49-C55D-494F-81DA-EC2E57087270
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0000406
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0050694
Mondo ID	MONDO_0000406
DiseasesDB	32666
Disease Ontology ID	DOID:0050694
rdfs:label	Brown-Vialetto-Van Laere syndrome (en) BVVL (is) Brown-Vialetto-van-Laere-Syndrom (de) Zespół Browna-Vialetto-Van Laerego (pl) syndrome de Brown-Vialetto-Van Laere (fr)
skos:prefLabel	Brown-Vialetto-Van Laere syndrome (en) BVVL (is) Brown-Vialetto-van-Laere-Syndrom (de) Zespół Browna-Vialetto-Van Laerego (pl) syndrome de Brown-Vialetto-Van Laere (fr)
name	Brown-Vialetto-Van Laere syndrome (en) BVVL (is) Brown-Vialetto-van-Laere-Syndrom (de) Zespół Browna-Vialetto-Van Laerego (pl) syndrome de Brown-Vialetto-Van Laere (fr)
instance of	wds:Q4976847-9054C8B1-AFAD-4E59-BA81-B10CCFD58DD0
instance of	class of disease
subclass of	wds:Q4976847-D20F352E-0309-4568-8F2E-68FD12B7BC07 wds:Q4976847-c6ffd6c2-4616-9a61-8db7-d2031f86d03e
subclass of	infantile progressive bulbar palsy autosomal dominant disease
KEGG ID	wds:Q4976847-63105839-6451-47EC-81F9-AAF64892E2A0
KEGG ID	http://www.kegg.jp/entry/H01903
KEGG ID	H01903
UniProt disease ID	wds:Q4976847-54969aac-4c30-5517-43b4-be488528e894
genetic association	wds:Q4976847-A23EA99F-3603-4637-B843-4CED8C9D07D6
PatientsLikeMe condition ID	wds:Q4976847-1f7db05b-4784-5b1c-2d98-6b4485327d58
OMIM ID	wds:q4976847-CF96D1A4-EBF6-41C1-8920-F1629F75742B
UniProt disease ID	DI-02727
genetic association	SLC52A3
PatientsLikeMe condition ID	bvvl
OMIM ID	211530
NCI Thesaurus ID	wds:Q4976847-b6776365-4a1a-7759-0219-7a0bc436e01d
UMLS CUI	wds:Q4976847-818EC7E1-D946-4117-814E-8036FCE1E01F
MeSH descriptor ID	wds:Q4976847-7c80718f-431f-21e2-e43c-b7847c99339e
on focus list of Wikimedia project	wds:Q4976847-60C144B8-051C-4F1F-9A8A-9011C67D34EE
Microsoft Academic ID	wds:Q4976847-DD465026-95FC-43DF-84A4-B055AF29DB47
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537111
Microsoft Academic ID	https://makg.org/entity/2778758826
NCI Thesaurus ID	C133724
UMLS CUI	C0796274
MeSH descriptor ID	C537111
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2778758826
WikiProjectMed ID	wds:Q4976847-2B18397E-D92E-4F58-B1A9-8688E1DA5577
WikiProjectMed ID	Brown–Vialetto–Van Laere syndrome
is owl:sameAs of	Brown-Vialetto-Van Laere syndrome
is about of	Brown-Vialetto-Van Laere syndrome https://pl.wikipedia.org/wiki/Zesp%C3%B3%C5%82_Browna-Vialetto-Van_Laerego https://www.wikidata.org/wiki/Special:EntityData/Q4976847 Brown–Vialetto–Van Laere syndrome https://de.wikipedia.org/wiki/Brown-Vialetto-van-Laere-Syndrom https://is.wikipedia.org/wiki/BVVL
is subclass of of	brown-Vialetto-van Laere syndrome 2 Brown-Vialetto-Van Laere syndrome 1
is subclass of of	wds:Q55784375-5AA687A5-0FD4-4B73-BF8A-68FF32095588 wds:Q102296320-F14487C9-27B5-4C7B-9F41-9060AC7C5A7C
is main subject of	Brown-Vialetto-Van Laere syndrome: case report and literature review Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54 Exome sequencing in Brown-Vialetto-van Laere syndrome SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings The Brown-Vialetto-van Laere syndrome: a case report and literature review Recovery from respiratory muscle failure in a sporadic case of Brown-Vialetto-Van Laere syndrome with unusually late onset Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-van Laere syndrome) with hyperintense brainstem nuclei on magnetic resonance imaging: new finding in three siblings. Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome) Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. Brown-Vialetto-Van Laere syndrome: a 28-year follow-up. Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy

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