Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Adenine phosphoribosyltransferase deficiency
Synonyms

2,8 dihydroxyadenine urolithiasis

APRT deficiency
ID

http://www.limics.org/hrdo/rdfns#pat_id_775
ageOfDeath

Normal
ageOfOnset

Variable
altLabel

2,8 dihydroxyadenine urolithiasis

APRT deficiency
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=adenine+phosphoribosyltransferase/df%5Bmajr%5D
id_MIM

614723
id_OMS

E79.8
id_Orpha

976
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_775
prefLabel

Adenine phosphoribosyltransferase deficiency
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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