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About:
Myasthenic Syndromes, Congenital
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An Entity of Type :
about:dsyn#this
, within Data Space :
semmed.demo.openlinksw.com
associated with source
document(s)
Type:
dsyn
New Facet based on Instances of this Class
Attributes
Values
label
myasthenic syndromes, congenital
COEXISTS_WITH
Disease
Onset of illness
Muscle Weakness
Epidermolysis Bullosa Simplex
Centronuclear myopathy
Slow channel syndrome
Congenital stridor
ASSOCIATED_WITH
Mutation
schema:identifier
c0751882
ISA
Disease
nervous system disorder
Neuromuscular Diseases
Neuromuscular Junction Diseases
PROCESS_OF
C0030705
Family
Human
Child
Adult
Population Group
Infant
cohort
Felis catus
Canis familiaris
Adolescent
Twin Multiple Birth
Gypsies
Smooth fox terrier
AFFECTS
C0030705
Clinicians
Neuromuscular transmission
is
LOCATION_OF
of
Neuromuscular Junction
Synapses
is
COEXISTS_WITH
of
Proximal muscle weakness
Fatigue
Epidermolysis Bullosa
receptor clustering
is
ASSOCIATED_WITH
of
Genes
Symptoms
Enzymes
Acetylcholinesterase
Pathogenicity
Birth
Cholinergic Receptors
Genetic Heterogeneity
COLQ
GFPT1|GFPT2
DOK7
CHRNA1
is
DIAGNOSES
of
Medical Imaging
Magnetic Resonance Imaging
genetic analysis
is
CAUSES
of
Genes
Mutation
Functional disorder
Congenital Abnormality
Mutate
Cholinergic Receptors
Choline O-Acetyltransferase
Mutation, Nonsense
CHRNE
MUSK gene
Agrin
Muscle-Specific Kinase
acetylcholine transporter
khat
COLQ
GFPT1|GFPT2
Agrin|AGRN
AGRN gene|AGRN
DOK7
peripheral membrane protein 43K|RAPSN
is
TREATS
of
Therapeutic procedure
Biological Response Modifiers
Albuterol
Adrenergic Agonists
is
AFFECTS
of
Mutation
agonists
Albuterol
Faceted Search & Find service v1.17_git42 as of Oct 29 2019
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