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About:
Succinic semialdehyde dehydrogenase deficiency
An Entity of Type:
disease
,
from Named Graph:
http://dbpedia.org
,
within Data Space:
dbpedia-live.demo.openlinksw.com
Rare disorder involving deficiency in GABA degradation
Property
Value
dbo:
description
Krankheit
(de)
хвороба
(uk)
희귀 상염색체 열성 유전병으로 억제성 신경전달물질인 GABA를 제대로 대사하지 못하는 희귀병; 의사의 도움을 받으세요.
(ko)
Rare disorder involving deficiency in GABA degradation
(en)
dbo:
diseasesDB
29825
dbo:
icd10
E72.8
dbo:
omim
271980
(xsd:integer)
dbo:
orpha
22
dbo:
thumbnail
wiki-commons
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dbo:
wikiPageExternalLink
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https://www.ncbi.nlm.nih.gov/books/NBK1195/
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:Retinitis
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:Human_eye
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:Hypoglycemia
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:NCS-382
dbr
:Cerebrum
dbr
:Phenotype
dbc
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dbr
:Baclofen
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:Dextromethorphan
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:Lamotrigine
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:Hyporeflexia
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:Calcium
dbc
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dbr
:Lethargy
dbr
:GABA
dbr
:Succinic_acid
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:Somnolence
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:Globus_pallidus
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:Inborn_errors_of_metabolism
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:White_matter
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:Choreoathetosis
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:CGP-35348
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:Amino_acid
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:Gene
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:Protein
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:Spinal_cord
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:Autosomal_recessive_disorders
dbr
:Anticonvulsant
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:Ataxia
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:Electroencephalography
dbr
:Strabismus
dbr
:GABA_transaminase
dbr
:Epilepsy
dbr
:Oxidation
dbr
:Ethosuximide
dbr
:Organic_acid
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:Uridine
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:Hyperkinesia
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:Recombination_hotspot
dbr
:Glycine
dbr
:Dopamine
dbr
:Ketone
dbr
:Brainstem
dbr
:Glutamate–glutamine_cycle
dbr
:Glutamine
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:Mass_spectrometry
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:Thalamus
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dbr
:Consanguinity
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:NMDA
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dbr
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dbr
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dbr
:Motor_neuron_disease
dbr
:Recessive
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:ALDH5A1
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:Neurotransmitters
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dbr
:International_Working_Group_on_Neurotransmitter_Related_Disorders
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dbr
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:Chloride_channel
dbr
:Hypoxia_(medical)
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:Gamma-Hydroxybutyric_acid
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:Autosomal_recessive
dbr
:N-methyl-D-aspartate
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:Seizures
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:Postnatal
dbr
:Succinate_semialdehyde
dbp:
caption
dbr
:Γ-Hydroxybutyric_acid
dbp:
date
2016-12-16
(xsd:date)
dbp:
diseasesdb
29825
(xsd:integer)
dbp:
icd
E72.8
(en)
dbp:
name
Succinic semialdehyde dehydrogenase deficiency
(en)
dbp:
omim
271980
(xsd:integer)
dbp:
orphanet
22
(xsd:integer)
dbp:
synonyms
4
(xsd:integer)
dbp:
url
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dbp:
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gold:
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dbr
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rdf:
type
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:Thing
wikidata
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dbo
:Disease
dbo
:Disease
rdfs:
label
Succinic semialdehyde dehydrogenase deficiency
(en)
عوز نازع هيدروجين ألدهيد السكسينيك النصفي
(ar)
Succinat-Semi-Aldehyd-Dehydrogenase-Mangel
(de)
Acidurie 4 hydroxy-butyrique
(fr)
숙신알데히드 탈수소효소 결핍증
(ko)
owl:
sameAs
freebase
:Succinic semialdehyde dehydrogenase deficiency
http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/1101
http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/3990
yago-res
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wikidata
:Succinic semialdehyde dehydrogenase deficiency
dbpedia-de
:Succinic semialdehyde dehydrogenase deficiency
dbpedia-fr
:Succinic semialdehyde dehydrogenase deficiency
dbpedia-ko
:Succinic semialdehyde dehydrogenase deficiency
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:Succinic semialdehyde dehydrogenase deficiency
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:Succinic semialdehyde dehydrogenase deficiency
dbr
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Succinic semialdehyde dehydrogenase deficiency
(en)
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