About: familial partial epilepsy

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

instance of partial epilepsy that is caused by an inherited modification of the individual's genome

Attributes	Values
rdf:type	Item
description	instance of partial epilepsy that is caused by an inherited modification of the individual's genome (en)
exact match	wds:Q55787290-904A8006-F2C4-4B5D-AAE7-73D9648D9DC5
exact match	http://www.orpha.net/ORDO/Orphanet_309
Mondo ID	wds:Q55787290-571D69F3-B1F2-4D89-8B83-DD61DC885165
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0017704
Mondo ID	MONDO_0017704
rdfs:label	familial partial epilepsy (en) épilepsie partielle familiale (fr)
skos:prefLabel	familial partial epilepsy (en) épilepsie partielle familiale (fr)
name	familial partial epilepsy (en) épilepsie partielle familiale (fr)
instance of	wds:Q55787290-03A907C0-550D-46DB-BE58-217CD59E5F8B
instance of	class of disease
subclass of	wds:Q55787290-5C6E03CC-2BC3-4152-9FA7-F78C6A72931E wds:Q55787290-89404108-2902-41C3-BCCF-A5C3165DA8AD wds:Q55787290-C66498CE-3EA4-4EC8-A237-8CA078D0AA24 wds:Q55787290-E266E2A6-522D-4922-919D-960FF94917B0 wds:Q55787290-FAA845A6-4F3C-4ED3-B88F-96E1157EA7A2
subclass of	Epilepsy in children focal epilepsy adolescent-onset epilepsy syndrome idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes channelopathy with epilepsy
Orphanet ID	wds:Q55787290-57CAB3F2-EDF0-4676-A6F1-D16A43D4CC78
ICD-10-CM	wds:Q55787290-EB5EF342-CBFA-464F-98D4-0351A673F98D
GARD rare disease ID	wds:Q55787290-2B986F71-D9AB-404F-A6FD-E8515A2FFFC5
Orphanet ID	309
ICD-10-CM	G40.1
GARD rare disease ID	2173
skos:altLabel	Epilepsy, partial, familial (en) hereditary partial epilepsy (en)
UMLS CUI	wds:Q55787290-190F7B74-E5CB-48AF-A338-433C462AA851
UMLS CUI	C5680862
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55787290
is subclass of of	Autosomal dominant partial epilepsy with auditory features generalized epilepsy-paroxysmal dyskinesia syndrome epilepsy, familial focal, with variable foci mesial temporal lobe epilepsy with hippocampal sclerosis familial temporal lobe epilepsy 7
is subclass of of	wds:Q112189960-05aa12d4-4b8b-4c15-b84e-b7c64d116be2 wds:Q3589154-42f06944-4e9e-9c9d-8d93-290832120238 wds:Q55762943-3d1cfa59-4de0-5fc9-0395-80b41f774d4e wds:Q55783675-C91B8962-C079-486A-85CB-80D53E2A4274 wds:Q55789414-2FD35DF7-88AF-4F19-B89E-5751F7AD60B7
is main subject of	Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12 Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures. Familial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12. Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2 Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q
is main subject of	wds:Q48793570-7C3EB59B-14F5-46D9-843D-CAEAEC5CA5FB wds:Q79083812-BD5918DA-F046-432D-B637-24CCD68DDD54 wds:Q58417098-056F705D-8BF1-4AAA-86B1-B7D2BC329CA8 wds:Q33640669-7EDB3127-1912-4C25-97ED-3E39583B1295 wds:Q77675586-592020E8-1B38-44FB-978B-BDD9217999EC wds:Q34146391-FFA37405-FB9C-44FC-AA93-5DA8C5159EBD

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