About: periventricular nodular heterotopia

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

congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain

Attributes	Values
rdf:type	Item
description	Krankheit (de) хвороба (uk) congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain (en)
exact match	wds:Q18553263-08D7ECC8-83E2-41F7-9176-D4E0EF886933 wds:Q18553263-7750B5EE-FED7-4841-AC16-5F0295D9504E wds:Q18553263-BE6B1413-5D49-49D7-8962-689DA5E31845
exact match	http://www.orpha.net/ORDO/Orphanet_98892 http://purl.obolibrary.org/obo/DOID_0050454 http://identifiers.org/doid/DOID:0050454
health specialty	wds:Q18553263-C2F5C010-9E2D-4248-8D5F-A388F2C287A1
Mondo ID	wds:Q18553263-58C79933-71BB-404A-847A-995B11DC40F2
Disease Ontology ID	wds:Q18553263-096460C0-60AF-4F18-A610-860A7748BFE7
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0020341
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0050454
health specialty	neurology
Mondo ID	MONDO_0020341
Disease Ontology ID	DOID:0050454
rdfs:label	hétérotopie nodulaire périventriculaire (fr) periventricular nodular heterotopia (en)
skos:prefLabel	hétérotopie nodulaire périventriculaire (fr) periventricular nodular heterotopia (en)
name	hétérotopie nodulaire périventriculaire (fr) periventricular nodular heterotopia (en)
instance of	wds:Q18553263-53577045-9E65-47FF-ADA5-BA3CFF5A09C7 wds:Q18553263-AFF6FDAE-0BF0-46E8-9A42-26FE558F25A4
instance of	class of disease rare disease
subclass of	wds:Q18553263-22211ffc-4745-1a84-6955-ec16df5e3e49 wds:Q18553263-59904800-F945-4072-BED0-9FB98ED23029 wds:Q18553263-FF19964F-59BC-49FF-A7C9-002E46710923
subclass of	gray matter heterotopia nervous system malformations nodular neuronal heterotopia
KEGG ID	wds:Q18553263-CEC8B923-0731-4CD7-AFFF-DE6C026D9C1B
KEGG ID	http://www.kegg.jp/entry/H00270
KEGG ID	H00270
Orphanet ID	wds:Q18553263-07E47FDF-2723-41D6-B6B0-A3B17DBA3CE3 wds:Q18553263-a66887c7-4816-5129-881f-41317639d3ff
genetic association	wds:Q18553263-2A4EFFD4-EFAF-4F51-B251-BCA37BD90927 wds:Q18553263-6B0418A4-8ABB-4905-A141-751A9854AC3F wds:Q18553263-8170CE6D-023F-4F26-90E5-17F866C100BC wds:Q18553263-C3A7772A-C0B8-4A56-A954-C2833B2A8780 wds:Q18553263-EEAF753D-5ACE-4B07-866F-308F6D9BEFBB
ICD-10-CM	wds:Q18553263-333225F1-1BBD-4C32-ADE4-290AB82DA225
PatientsLikeMe condition ID	wds:Q18553263-98c54c86-4855-9e37-b405-07495235ba6d
GARD rare disease ID	wds:Q18553263-418000C4-1BD2-4C49-8EC3-F3FA8024A253
OMIM ID	wds:Q18553263-0DCA1BCD-F8A1-471A-850C-B8D23C887BFB wds:Q18553263-18AC0838-82B0-4388-9C6F-F87FCAFAE5A0 wds:Q18553263-2907C90F-B700-46E9-8F92-4BA9043E1A46 wds:Q18553263-62065667-28F4-47AD-B2BC-50FC3E3A694C wds:Q18553263-D0E65A6D-FF83-45B6-8E16-9B10655EC92E
Genetics Home Reference Conditions ID	wds:Q18553263-6AD5C031-35C5-4B4D-A18F-050BF920A3DD
Orphanet ID	98892
genetic association	ARF1 NEDD4L FLNA ARFGEF2 ERMARD
ICD-10-CM	Q04.8
PatientsLikeMe condition ID	heterotopia-periventricular
GARD rare disease ID	12724
OMIM ID	300049 608097 615544 612881 608098
Genetics Home Reference Conditions ID	periventricular-heterotopia
skos:altLabel	PVNH (en) periventricular heterotopia (en)
UMLS CUI	wds:Q18553263-53393712-451D-4413-A3AF-A4646E82B780 wds:Q18553263-55D0D571-4377-4C88-A3AE-699D40E6C0C8 wds:Q18553263-E31EB533-3779-4EEC-B911-2DC02016A6E3 wds:Q18553263-F580DA26-0E32-4437-85C4-5725CAB9DABA
MeSH descriptor ID	wds:Q18553263-CF47E61C-FD16-4F12-A359-31BB4218836F
on focus list of Wikimedia project	wds:Q18553263-5E7C6FBC-E4D8-4AED-BDDD-F43578FF2353
MeSH tree code	wds:Q18553263-5AEAB751-252E-4A2C-83C9-BA5D6C8B1B35 wds:Q18553263-7781766A-DCEC-42DD-935A-FF3A83E57819
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/D054091
MeSH tree code	http://id.nlm.nih.gov/mesh/C10.500.507.450.750 http://id.nlm.nih.gov/mesh/C16.131.666.507.450.750
UMLS CUI	C1848213 C1868720
MeSH descriptor ID	D054091
on focus list of Wikimedia project	WikiProject Medicine
MeSH tree code	C10.500.507.450.750 C16.131.666.507.450.750
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q18553263
is main subject of	A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females Xq26.1-26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria. Periventricular nodular heterotopia: epileptogenic findings. Periventricular nodular heterotopia and intractable temporal lobe epilepsy: poor outcome after temporal lobe resection. Periventricular nodular heterotopia and Williams syndrome The role of periventricular nodular heterotopia in epileptogenesis. Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation

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