PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
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Preferred Name

Myasthenic Syndromes, Congenital
Synonyms
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).
ID

http://www.phoc.org.cn/pmo/class/PMO_00036717
Database_Cross_Reference

CHV:0000048501

NCI:C84647

SNOMEDCT_US:230672006

NDFRT:N0000004099

DO:DOID:3635

RCD:X00Ce

MSH:D020294
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).
label

Myasthenic Syndromes, Congenital
MCID

MC00259063
PMOID

PMO:00036717
prefixIRI

pmo:PMO_00036717
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
Tree Number

T9.8.4.18

T9.21.13.2.4
subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036558

http://www.phoc.org.cn/pmo/class/PMO_00038391
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