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Online Mendelian Inheritance in Man
| Preferred Name | MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC | |
| Synonyms |
FIM, FORMERLY CMS1A2, FORMERLY CONGENITAL MYASTHENIC SYNDROME TYPE Ia2, FORMERLY MYASTHENIA, FAMILIAL INFANTILE, FORMERLY MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA CMS Ia2, FORMERLY FIMG2, FORMERLY CMS6 MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2, FORMERLY CMSEA |
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| ID |
http://purl.bioontology.org/ontology/OMIM/254210 |
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| altLabel |
FIM, FORMERLY CMS1A2, FORMERLY CONGENITAL MYASTHENIC SYNDROME TYPE Ia2, FORMERLY MYASTHENIA, FAMILIAL INFANTILE, FORMERLY MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA CMS Ia2, FORMERLY FIMG2, FORMERLY CMS6 MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2, FORMERLY CMSEA
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| cui |
C0393929
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| Gene Locus |
10q11.2
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| Gene Symbol |
CHAT CMS6
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| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU004349 http://purl.bioontology.org/ontology/OMIM/MTHU042082 http://purl.bioontology.org/ontology/OMIM/MTHU004348 http://purl.bioontology.org/ontology/OMIM/MTHU001546 http://purl.bioontology.org/ontology/OMIM/MTHU001649 http://purl.bioontology.org/ontology/OMIM/MTHU042081 http://purl.bioontology.org/ontology/OMIM/MTHU001563 http://purl.bioontology.org/ontology/OMIM/MTHU004344 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU001528 http://purl.bioontology.org/ontology/OMIM/MTHU001529 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU010961 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU001543 http://purl.bioontology.org/ontology/OMIM/MTHU004346 http://purl.bioontology.org/ontology/OMIM/MTHU004347 http://purl.bioontology.org/ontology/OMIM/MTHU001564 http://purl.bioontology.org/ontology/OMIM/MTHU004345 http://purl.bioontology.org/ontology/OMIM/MTHU010963 http://purl.bioontology.org/ontology/OMIM/MTHU010962 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known.
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| notation |
254210
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| OMIM Entry Type |
3
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| OMIM MimType Value |
pound
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| prefLabel |
MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC
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| Scope Statement |
Symptoms often improve gradually with age [MISCELLANEOUS] Onset at birth or early childhood [MISCELLANEOUS] Caused by mutation in the choline acetyltransferase gene (CHAT, 118490.0001) [MOLECULAR BASIS] Genetic heterogeneity (see CMS1A1, 605809) [MISCELLANEOUS] Favorable response to acetylcholinesterase inhibitors [MISCELLANEOUS]
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| tui |
T047
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| Delete | Subject | Author | Type | Created |
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