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About:
clgr:
Fumarase_deficiency
Property
Value
rdf:
type
owl:
NamedIndividual
Rare disease
Amino acid metabolism disorder
Autosomal recessive disorder
Disorder causing seizures
TCA and ETC metabolism disorder
rdfs:
label
Fumarase deficiency
owl:
sameAs
dbr:
Fumarase_deficiency
prov:
wasDerivedFrom
http://en.wikipedia.org/wiki/Category:TCA_and_ETC_metabolism_disorders
http://en.wikipedia.org/wiki/Category:Rare_diseases
http://en.wikipedia.org/wiki/List_of_diseases_(F)
http://en.wikipedia.org/wiki/Category:Amino_acid_metabolism_disorders
http://en.wikipedia.org/wiki/Category:Autosomal_recessive_disorders
http://en.wikipedia.org/wiki/Category:Disorders_causing_seizures
skos:
prefLabel
Fumarase deficiency
skos:
altLabel
fumarase deficiency
clgo:
diseasesDB
29835
clgo:
icd10
E88.8
clgo:
omim
606812
clgo:
orpha
24