Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

West syndrome
Synonyms

West's syndrome

tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG

X-linked infantile spasm syndrome

Infantile spasms syndrome

X-linked infantile spasms

intellectual disability-hypsarrhythmia syndrome

infantile spasms

Definitions

West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

ID

http://purl.obolibrary.org/obo/MONDO_0018097

database_cross_reference

MedDRA:10021750

MEDGEN:11519

icd11.foundation:1023597213

ICD9:345.60

SCTID:28055006

Orphanet:3451

NANDO:1200592

UMLS:C0037769

NCIT:C84788

NANDO:2200878

DOID:0050562

ICD9:348.89

GARD:7887

NORD:1848

definition

West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

has_exact_synonym

intellectual disability-hypsarrhythmia syndrome

infantile spasms

has_related_synonym

West's syndrome

tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG

X-linked infantile spasm syndrome

Infantile spasms syndrome

X-linked infantile spasms

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5588

id

MONDO:0018097

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_clinical_syndrome

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder

label

West syndrome

notation

MONDO:0018097

preferred label

West syndrome

prefLabel

West syndrome

see also

https://www.epilepsydiagnosis.org/syndrome/west-syndrome-overview.html

skos_closeMatch

http://identifiers.org/meddra/10021750

skos_exactMatch

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1023597213

http://purl.obolibrary.org/obo/DOID_0050562

http://purl.obolibrary.org/obo/NCIT_C84788

http://linkedlifedata.com/resource/umls/id/C0037769

http://purl.obolibrary.org/obo/Orphanet_3451

http://identifiers.org/snomedct/28055006

http://identifiers.org/medgen/11519

subClassOf

http://purl.obolibrary.org/obo/MONDO_0100022

http://purl.obolibrary.org/obo/MONDO_0000413

http://purl.obolibrary.org/obo/MONDO_0002254

excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

http://purl.obolibrary.org/obo/MONDO_0015921

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Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0018097 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018097 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018097 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018097 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0050562 DOID LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#West_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/SNMI/DA-31560 SNMI LOOM
http://www.case.edu/EpilepsyOntology.owl#WestSyndrome EPSO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU021431 OMIM LOOM
rgo:27545 GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84788 NCIT LOOM
http://purl.bioontology.org/ontology/RCD/F256. RCD LOOM
http://www.limics.fr/ontologies/ontolurgences#SyndromeDeWest ONTOLURGENCES LOOM
http://nanbyodata.jp/ontology/NANDO_1200592 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200878 NANDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/28055006 SNOMEDCT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_894 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_0050562 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_0050562 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050562 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050562 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050562 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0050562 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C84788 BERO LOOM
http://www.semanticweb.org/ontologies/2009/3/EpilepsyOntology.owl#West_syndrome EPILONT LOOM
http://www.semanticweb.org/ontologies/2009/3/EpilepsyOntology.owl#West_syndrome MEPO LOOM
http://purl.obolibrary.org/obo/MONDO_0018097 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0018097 EFO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#West_Syndrome ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#West_Syndrome MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#West_Syndrome EPISEM LOOM