Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

West syndrome
Synonyms

Infantile spasms

Intellectual deficit - hypsarrhythmia
ID

http://www.limics.org/hrdo/rdfns#pat_id_894
ageOfOnset

Neonatal/infancy
altLabel

Infantile spasms

Intellectual deficit - hypsarrhythmia
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=infantile+spasms%5Bti%5D+OR+West+syndrome%5BTi%5D+OR+West%27s+syndrome%5BTi%5D+OR+spasms%2C+infantile%5Bmajr%5D
id_MIM

308350

615006
id_OMS

G40.4
id_Orpha

3451
id_SNOMEDCT

28055006
inheritance

X-linked recessive

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_894
prefLabel

West syndrome
prevalence

1-9 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Mapping To Ontology Source
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://purl.obolibrary.org/obo/DOID_0050562 DOID 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 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018097 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018097 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018097 DOVES 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