Terminology Service for NFDI4Health

congenital myasthenic syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_3635


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). [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007638 ]

Term info

Label

congenital myasthenic syndrome

database cross reference
Subsets

DO_rare_slim, NCIthesaurus

comment

Xref MGI.

has obo namespace

disease_ontology

id

DOID:3635

Term relations