congenital myasthenic syndrome 6
Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.
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congenital myasthenic syndrome 6
Summary
congenital myasthenic syndrome 6 is a rare disease[1].
Key Facts
- congenital myasthenic syndrome 6's instance of is recorded as rare disease[2].
- congenital myasthenic syndrome 6's instance of is recorded as class of disease[3].
- congenital myasthenic syndrome 6's subclass of is recorded as congenital myasthenic syndrome[4].
- congenital myasthenic syndrome 6's subclass of is recorded as genetic disease[5].
- congenital myasthenic syndrome 6's subclass of is recorded as autosomal recessive disease[6].
- congenital myasthenic syndrome 6's MeSH descriptor ID is recorded as C535759[7].
- congenital myasthenic syndrome 6's OMIM ID is recorded as 254210[8].
- congenital myasthenic syndrome 6's Disease Ontology ID is recorded as DOID:0110671[9].
- congenital myasthenic syndrome 6's ICD-9-CM is recorded as 358.00[10].
- congenital myasthenic syndrome 6's NCI Thesaurus ID is recorded as C132292[11].
- congenital myasthenic syndrome 6's genetic association is recorded as CHAT[12].
- congenital myasthenic syndrome 6's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110671[13].
- congenital myasthenic syndrome 6's exact match is recorded as http://identifiers.org/doid/DOID:0110671[14].
- congenital myasthenic syndrome 6's UMLS CUI is recorded as C0393929[15].
- congenital myasthenic syndrome 6's GARD rare disease ID is recorded as 9689[16].
- congenital myasthenic syndrome 6's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- congenital myasthenic syndrome 6's Mondo ID is recorded as MONDO_0009689[18].
- congenital myasthenic syndrome 6's UniProt disease ID is recorded as DI-00370[19].