About: X-linked congenital stationary night blindness

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

medical condition

Attributes	Values
rdf:type	Item
description	medical condition (en) حالة طبية (ar) медичний стан (uk) handicap visuel congénital non évolutif (fr)
health specialty	wds:Q8041552-2EEDDD12-CD7C-4413-B153-1494865A0116
ICD-10	wds:q8041552-0BB9AFCC-3B93-4865-ACFC-90B17EEB9945
DiseasesDB	wds:q8041552-6BC8DBBF-585B-43F0-84B6-680D3915D5A4
health specialty	ophthalmology
ICD-10	H53.6
DiseasesDB	32689
rdfs:label	X-linked congenital stationary night blindness (en) Kongenitale stationäre Nachtblindheit (de) Urođeno stacionarno noćno sljepilo (bs) cécité nocturne stationnaire congénitale liée à l'X (fr) Ceguera nocturna estacionaria congénita autosómica recesiva (es) العمى الليلي الثابت الخلقي (ar)
skos:prefLabel	X-linked congenital stationary night blindness (en) Kongenitale stationäre Nachtblindheit (de) Urođeno stacionarno noćno sljepilo (bs) cécité nocturne stationnaire congénitale liée à l'X (fr) Ceguera nocturna estacionaria congénita autosómica recesiva (es) العمى الليلي الثابت الخلقي (ar)
name	X-linked congenital stationary night blindness (en) Kongenitale stationäre Nachtblindheit (de) Urođeno stacionarno noćno sljepilo (bs) cécité nocturne stationnaire congénitale liée à l'X (fr) Ceguera nocturna estacionaria congénita autosómica recesiva (es) العمى الليلي الثابت الخلقي (ar)
instance of	wds:Q8041552-750B7978-2DE4-45E1-8F01-8BAAC9774AD8 wds:Q8041552-7C237177-7FC0-412C-A864-A18E7162B5D4
instance of	rare disease disease
subclass of	wds:Q8041552-76d49604-4178-a579-2d8a-3ffe8433f57b wds:Q8041552-a9ef1d9d-4d46-9635-d0d7-d3ced6b11eba
subclass of	congenital stationary night blindness X-linked disease
genetic association	wds:Q8041552-3DCE8F92-1A2F-410F-9A7B-E098FA615099 wds:Q8041552-7984832C-E285-4FA5-AD24-28384AE5EA89
GARD rare disease ID	wds:Q8041552-00FBC242-E104-4C6E-95F0-C0959EA59C99
OMIM ID	wds:q8041552-02AC7A19-CAA7-4F0F-A676-28D636EE7D08 wds:q8041552-12EB0F58-A924-48AD-AF4F-DC510AE38963
genetic association	CACNA1F NYX
GARD rare disease ID	3995
OMIM ID	300071 310500
Medical Dictionary...ory Activities ID	wds:Q8041552-C0842AF0-CC08-4495-82F7-955EBCE19365
ICD-9 ID	wds:q8041552-D5AF4EFD-A8C3-4AB5-A1CE-F2F4FFF6E072
Medical Dictionary...ory Activities ID	http://purl.bioontology.org/ontology/MDRFRE/10029404
Medical Dictionary...ory Activities ID	10029404
ICD-9 ID	368.61
MedlinePlus ID	wds:q8041552-4BB604B7-430C-4D46-83E6-D9ED0F10DC09
Microsoft Academic ID	wds:Q8041552-C5312AA1-1EB4-402D-883C-08B9264115DE
Microsoft Academic ID	https://makg.org/entity/2780096930
MedlinePlus ID	003039
Microsoft Academic ID	2780096930
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q8041552 Congenital stationary night blindness https://de.wikipedia.org/wiki/Kongenitale_station%C3%A4re_Nachtblindheit https://fr.wikipedia.org/wiki/C%C3%A9cit%C3%A9_nocturne_cong%C3%A9nitale_stationnaire https://ar.wikipedia.org/wiki/%D8%A7%D9%84%D8%B9%D9%85%D9%89_%D8%A7%D9%84%D9%84%D9%8A%D9%84%D9%8A_%D8%A7%D9%84%D8%AB%D8%A7%D8%A8%D8%AA_%D8%A7%D9%84%D8%AE%D9%84%D9%82%D9%8A https://bs.wikipedia.org/wiki/Uro%C4%91eno_stacionarno_no%C4%87no_sljepilo https://es.wikipedia.org/wiki/Ceguera_nocturna_estacionaria_cong%C3%A9nita_autos%C3%B3mica_recesiva
is main subject of	Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. Linkage analysis in X-linked congenital stationary night blindness Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23 Affected females in X-linked congenital stationary night blindness An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7 X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness Development of a 1.4-Mb BAC/PAC contig and physical map within the critical region for complete X-linked congenital stationary night blindness in Xp11.4. Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region X-linked congenital stationary night blindness Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity Standardised measures of retinal function pinpoint genotype in X linked congenital stationary night blindness Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness X-linked congenital stationary night blindness: review and report of a family with hyperopia
is main subject of	wds:Q28201570-3EF4A06D-70E6-4B59-B8BF-07F9243FD83D wds:Q35194236-BF28D36B-B96B-4C62-ABA3-020919194605 wds:Q77368810-ADF651BE-1AC6-48D4-A310-1D571D3945CB wds:Q28209567-2C552E42-4D32-4642-8DE5-0F5F943F0024 wds:Q60641499-FD4DBC1F-F0A8-4E68-9DD3-101568C8F08A wds:Q68137418-32E879B2-81EE-4540-9412-A011B2F563FA wds:Q74198153-97EE67A2-5798-458F-B6FA-ADF858845937 wds:Q24315182-C0CB5B7B-9E06-4C66-AFAF-C7C901AD8337 wds:Q30332162-BE9FA204-B33A-4749-8DAD-B3154F950540

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