About: lethal neonatal spasticity-epileptic encephalopathy syndrome

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About: lethal neonatal spasticity-epileptic encephalopathy 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
description	human disease (en) хвороба людини (uk)
exact match	wds:Q55784338-A54BF127-1BC3-4794-A962-F25AD7B9067A
exact match	http://www.orpha.net/ORDO/Orphanet_435845
Experimental Factor Ontology ID	wds:Q55784338-7A1FE5DD-EE08-412D-A7D1-02E678535474
Mondo ID	wds:Q55784338-8986DB6C-A0ED-4ECB-A1FE-FBEE0EBC53F4
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013784
Experimental Factor Ontology ID	0009144
Mondo ID	MONDO_0013784
rdfs:label	lethal neonatal spasticity-epileptic encephalopathy syndrome (en)
skos:prefLabel	lethal neonatal spasticity-epileptic encephalopathy syndrome (en)
name	lethal neonatal spasticity-epileptic encephalopathy syndrome (en)
instance of	wds:Q55784338-0726BA1D-479E-40D0-9E61-CDEEFFDA2B64 wds:Q55784338-426B372F-1A91-4ADA-8F97-38E072DECCE9
instance of	class of disease rare disease
subclass of	wds:Q55784338-684F7685-65AA-4C1A-9438-A4FA21E9A181
subclass of	monogenic disease with epilepsy
UniProt disease ID	wds:Q55784338-3e33cb0f-4e4f-2336-6fe3-9ab4109885e1
Orphanet ID	wds:Q55784338-BCEBFCA5-7ECE-4AA2-9BEC-82FB351D0CE4
genetic association	wds:Q55784338-D040FA43-5963-4097-8F3C-C83E51D71EA9
ICD-10-CM	wds:Q55784338-0344D3B1-299E-4D07-8FBD-50272A4108AE
OMIM ID	wds:Q55784338-808CE550-6F6C-47CB-A5B1-78928F9BA72E
UniProt disease ID	DI-03404
Orphanet ID	435845
genetic association	BRAT1
ICD-10-CM	G40.4
OMIM ID	614498
skos:altLabel	RMFSL (en) Lethal neonatal rigidity-multifocal seizure syndrome (en) RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL; RMFSL (en) RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (en)
NCI Thesaurus ID	wds:Q55784338-8d2dc1e0-4e7a-6d32-8ac8-d4e008d08d48
UMLS CUI	wds:Q55784338-56F93A1C-1040-4C3A-9FC6-83C2FBD194B1
NCI Thesaurus ID	C154618
UMLS CUI	C3281029
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55784338
is main subject of	A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal
is main subject of	wds:Q94450491-509F1F14-D9C5-4BB9-B83C-1660CCC96CC3
is genetic association of	BRAT1
is genetic association of	wds:Q18053538-3B311EE5-5B96-4D86-A313-4B42B878E25F
is established from medical condition of	GM26045
is established from medical condition of	wds:Q93932334-8A3BEBF6-8586-4FED-B43A-BE9E35FBC25A

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