|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:muscular_dystrophy
|
|
gptkbp:abbreviation
|
gptkb:SMA
|
|
gptkbp:affects
|
motor neurons
|
|
gptkbp:category
|
gptkb:neurodegenerative_disease
gptkb:muscular_disease
gptkb:rare_disease
hereditary motor neuropathy
|
|
gptkbp:complication
|
respiratory failure
scoliosis
feeding difficulties
|
|
gptkbp:containsGene
|
gptkb:SMN1
gptkb:SMN2
|
|
gptkbp:diagnosedBy
|
genetic testing
|
|
gptkbp:firstDescribed
|
gptkb:Guido_Werdnig
gptkb:Johann_Hoffmann
|
|
gptkbp:frequency
|
rare
|
|
gptkbp:hasChildDisease
|
gptkb:Werdnig-Hoffmann_disease
Kugelberg-Welander disease
|
|
gptkbp:hasOrphanetID
|
ORPHA:70
|
|
gptkbp:hasParentDisease
|
gptkb:motor_neuron_disease
muscular atrophy
|
|
gptkbp:ICD-10_code
|
G12.0
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:MeSH_ID
|
D012121
|
|
gptkbp:mutationAssociatedWith
|
gptkb:SMN1_gene
|
|
gptkbp:OMIM
|
253300
|
|
gptkbp:onset
|
childhood
infancy
adulthood
|
|
gptkbp:prevalence
|
1 in 6,000 to 10,000 live births
|
|
gptkbp:researchOrganization
|
gptkb:Cure_SMA
gptkb:SMA_Foundation
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:symptom
|
difficulty breathing
difficulty swallowing
muscle atrophy
muscle weakness
|
|
gptkbp:treatment
|
gptkb:nusinersen
gptkb:onasemnogene_abeparvovec
gptkb:risdiplam
|
|
gptkbp:type
|
gptkb:Type_0
Type 1
Type 2
Type 3
Type 4
|
|
gptkbp:bfsParent
|
gptkb:SMA
gptkb:SMA_UK
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Spinal Muscular Atrophy
|