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About:
clgr:
8p23.1_duplication_syndrome
Property
Value
rdf:
type
Syndrome affecting the heart
Syndrome with craniofacial abnormalities
owl:
NamedIndividual
Rare genetic syndrome
Genetic disorder with no OMIM
Syndrome with intellectual disability
rdfs:
label
8p23.1 duplication syndrome
owl:
sameAs
dbr:
8p23.1_duplication_syndrome
prov:
wasDerivedFrom
http://en.wikipedia.org/wiki/Category:Rare_genetic_syndromes
http://en.wikipedia.org/wiki/List_of_diseases_(0%E2%80%939)
http://en.wikipedia.org/wiki/Category:Syndromes_affecting_the_heart
http://en.wikipedia.org/wiki/Category:Syndromes_with_craniofacial_abnormalities
http://en.wikipedia.org/wiki/Category:Genetic_disorders_with_no_OMIM
http://en.wikipedia.org/wiki/Category:Syndromes_with_intellectual_disability
http://en.wikipedia.org/wiki/Chromosome_8
skos:
prefLabel
8p23.1 duplication syndrome
skos:
altLabel
8p23.1 deletion/duplication
clgo:
icd10
Q92.3
clgo:
orpha
251076