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Human Disease and Mouse Model Detail
Human Disease Myasthenic Syndrome, Congenital, 5; CMS5
OMIM ID: 603034
Human Phenotype Ontology associations
Synonyms Cms IC; FORMERLY; Congenital Myasthenic Syndrome Type IC; FORMERLY; CMS1C, FORMERLY; Endplate Acetylcholinesterase Deficiency; EAD; Engel Congenital Myasthenic Syndrome; Myasthenic Syndrome, Congenital, Engel Type
View all models View ALL (1) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     COLQ* Colq* View 1 model HGNC
References Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory