About: infantile onset spinocerebellar ataxia

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About: infantile onset spinocerebellar ataxia 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
description	Krankheit (de) Human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar)
exact match	wds:Q18553306-67E05E0A-DAAE-4B49-834A-BE89215BCEB9 wds:Q18553306-B2376E5D-9E3D-4F17-83C6-03572388B872
Disease Ontology ID	wds:Q18553306-4B18E57F-9F79-446B-9BA2-ACBBF373FDC5
rdfs:label	ataxie spinocérébelleuse infantile (fr) infantile onset spinocerebellar ataxia (en)
skos:prefLabel	ataxie spinocérébelleuse infantile (fr) infantile onset spinocerebellar ataxia (en)
name	ataxie spinocérébelleuse infantile (fr) infantile onset spinocerebellar ataxia (en)
instance of	wds:Q18553306-875E5A2B-8188-4B70-B91B-8C0B34C3611E
instance of	class of disease
said to be the same as	wds:Q18553306-c631a83a-4be0-41f2-4597-ceb8d8cbf938
said to be the same as	mitochondrial DNA depletion syndrome 7
subclass of	wds:Q18553306-6c10c53b-4964-ec58-8e78-e375a6a5f39e
subclass of	mitochondrial DNA depletion syndrome, hepatocerebral form
Orphanet ID	wds:Q18553306-df1153b3-4630-06d4-faf2-6fba3b217810
GARD rare disease ID	wds:Q18553306-11A17FE5-6316-4359-98AB-59F544BB85F2
Genetics Home Reference Conditions ID	wds:Q18553306-AD810F92-7A3C-4EB1-8649-DBEA3EBABC35
Orphanet ID	1186
GARD rare disease ID	4062
Genetics Home Reference Conditions ID	infantile-onset-spinocerebellar-ataxia
skos:altLabel	OHAHA SYNDROME (en) obsolete infantile onset spinocerebellar ataxia (en)
MeSH descriptor ID	wds:Q18553306-e115b201-47f1-65d5-7376-6ca09319b558
on focus list of Wikimedia project	wds:Q18553306-F2F29CBE-CFE3-4245-8A58-6EB3DCA5917B
ICD-11 (foundation)	wds:Q18553306-a39ba5c2-4b2d-30fc-0e46-af1f030fdc25
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C535523
MeSH descriptor ID	C535523
on focus list of Wikimedia project	WikiProject Medicine
ICD-11 (foundation)	1262541689
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q18553306
is main subject of	Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. Case of infantile onset spinocerebellar ataxia type 5. Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features. Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia Primary hypogonadism in females with infantile onset spinocerebellar ataxia. Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA) Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene. Infantile-onset spinocerebellar ataxia: MR and CT findings Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease Identification of a Novel Twinkle Mutation in a Family With Infantile Onset Spinocerebellar Ataxia by Whole Exome Sequencing cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia [IOSCA - Infantile onset spinocerebellar ataxia]. Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy Infantile-Onset Spinocerebellar Ataxia
is main subject of	wds:Q30706825-98D2A6CB-D2A3-487B-BB67-3909801C5169 wds:Q36856462-B051532C-9379-413E-AE2E-290ABB2BF567 wds:Q42286359-3A5ECA16-4E33-4EC2-93B8-D48131E387EA wds:Q48311700-8AE7630F-1BF1-4500-82CA-6577824AFE6D wds:Q48270136-9E39526F-F4A2-48CC-82BD-E4455A373077 wds:Q48934733-AEAC37C6-106F-49EA-8986-CFE82EE884C8 wds:Q37188690-23130F43-2819-42EA-B53F-2CBF91FE6968 wds:Q40618370-FB6FD850-2302-4CDC-A533-79B3563ACE11 wds:Q44707177-44419DB5-265C-4AEC-83BF-F42D3687F06D wds:Q59698178-49853D8F-F2BE-44A4-A857-A734FB613B48 wds:Q47334446-763F650A-46F4-4F6F-8BA3-F96A594B09CB wds:Q50433068-02317954-71CF-4528-8924-79D2BD24F9DD wds:Q102059331-DC370CB8-5B0F-465A-BFE6-3BA0943415A5 wds:Q28085031-6DEF673A-AD54-4891-B35C-73EDED15D6A7 wds:Q72366399-07AF4A8A-50D1-4EBD-800A-05AD1D134CB6 wds:Q28269924-8FC6A5BD-522F-44C8-A95E-FD63814CB4BF wds:Q33917481-44F2B0C9-FF1B-4FB6-A107-D1A4C7C672E5 wds:Q51044163-043EE7EF-0DE1-482F-BEEF-4D1D21A9FE3A wds:Q45022084-215E6524-1C2D-4523-82B0-0E6F3B526A0B wds:Q57432305-35B0ABF6-0E48-4199-BCBC-5B56F1B3BF55 wds:Q72597358-5AE6A4AA-3584-4391-BA4C-27664FC6A791 wds:Q92534148-ABA30F61-144F-497F-A96C-10FB58BBA431

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