PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Jump to:
Id http://www.phoc.org.cn/pmo/class/PMO_00036717
http://www.phoc.org.cn/pmo/class/PMO_00036717
Preferred Name

Myasthenic Syndromes, Congenital
Definitions
A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
Type http://www.w3.org/2002/07/owl#Class

All Properties

label
Myasthenic Syndromes, Congenital
prefLabel
Myasthenic Syndromes, Congenital
Synonym
Congenital myasthenia (disorder)
MYASTHENIC SYNDROMES CONGEN
congenital myasthenia gravis
CONGEN MYASTHENIC SYNDROMES
Myasthenic Syndromes, Congenital [Disease/Finding]
Congenital Myasthenic Syndromes
Myasthenic Syndrome, Congenital
CONGEN MYASTHENIA GRAVIS
congenital myasthenic syndrome
Syndromes, Congenital Myasthenic
Congenital myasthenia
congenital myasthenic syndromes
familial limb-girdle myasthenia
Congenital Myasthenia Gravis
Syndrome, Congenital Myasthenic
MYASTHENIA GRAVIS CONGEN
Congenital Myasthenic Syndrome
Gravi, Congenital Myasthenia
Myasthenia Gravis, Congenital
Congenital Myasthenia
See more
See less
Definition
A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
PMOID
PMO:00036717
MCID
MC00259063
prefixIRI
pmo:PMO_00036717
Database_Cross_Reference
CHV:0000048501
NCI:C84647
SNOMEDCT_US:230672006
NDFRT:N0000004099
DO:DOID:3635
RCD:X00Ce
MSH:D020294
See more
See less
Tree Number
T9.8.4.18
T9.21.13.2.4
subClassOf
type
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display