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Disease core ontology applied to Rare Diseases
Last uploaded: February 7, 2014
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Id
http://www.limics.org/hrdo/rdfns#pat_id_2453
http://www.limics.org/hrdo/rdfns#pat_id_2453
Preferred Name
Nevo syndrome
Synonyms
Cerebral gigantism, Nevo type
Type
http://www.w3.org/2002/07/owl#Class
All Properties
altLabel
Cerebral gigantism, Nevo type
prefLabel
Nevo syndrome
id_MIM
601451
prevalence
<1 / 1 000 000
inheritance
Autosomal recessive
id_UMLS
C2936777
id_OMS
Q87.3
prefixIRI
hrdo:pat_id_2453
id_Orpha
2691
subClassOf
http://www.limics.org/hrdo/rdfns#typ_id_8
patType
malformation syndrome
id_MeSH
C536113
type
http://www.w3.org/2002/07/owl#Class
id_Medline
neant
ageOfOnset
Neonatal/infancy
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