Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Isolated anorectal malformation
Synonyms
ID

http://www.limics.org/hrdo/rdfns#pat_id_1058
ageOfDeath

Normal
ageOfOnset

Neonatal/infancy
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(rectum%2Fab%5Bmajr%5D+OR+anus,+imperforate%5Bmajr%5D)+(child+OR+humans+OR+infant)
id_MIM

107100

207500

301800
id_OMS

Q42.0

Q42.1

Q42.2

Q42.3
id_Orpha

557
patType

group of phenomes
prefixIRI

hrdo:pat_id_1058
prefLabel

Isolated anorectal malformation
prevalence

1-5 / 10 000
subClassOf

http://www.limics.org/hrdo/rdfns#pat_id_12846
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