Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Isolated spina bifida
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_5013
ageOfOnset

Neonatal/infancy
id_MedDRA

10041524
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22spinal+dysraphism%22%5BTI%5D+OR+Spina+Bifida%5BTi%5D%29+NOT+Medline%5BSB%5D%29+OR+%22spinal+dysraphism%22%5BMeSH+Terms%5D
id_MeSH

D016135
id_MIM

182940

301410

601634
id_OMS

Q05
id_Orpha

823
id_SNOMEDCT

67531005
id_UMLS

C0080178
inheritance

Multigenic/multifactorial

Sporadic
patType

group of phenomes
prefixIRI

hrdo:pat_id_5013
prefLabel

Isolated spina bifida
prevalence

1-5 / 10 000
subClassOf

http://www.limics.org/hrdo/rdfns#pat_id_20183

http://www.limics.org/hrdo/rdfns#pat_id_19216
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