congenital myasthenic syndrome 2C

Summary

congenital myasthenic syndrome 2C is a rare disease^[1].

Key Facts

• congenital myasthenic syndrome 2C's instance of is recorded as rare disease^[2].
• congenital myasthenic syndrome 2C's instance of is recorded as class of disease^[3].
• congenital myasthenic syndrome 2C's subclass of is recorded as congenital myasthenic syndrome^[4].
• congenital myasthenic syndrome 2C's subclass of is recorded as postsynaptic congenital myasthenic syndrome^[5].
• congenital myasthenic syndrome 2C's subclass of is recorded as genetic disease^[6].
• congenital myasthenic syndrome 2C's subclass of is recorded as autosomal recessive disease^[7].
• congenital myasthenic syndrome 2C's OMIM ID is recorded as 616314^[8].
• congenital myasthenic syndrome 2C's OMIM ID is recorded as 616314^[9].
• congenital myasthenic syndrome 2C's Disease Ontology ID is recorded as DOID:0110680^[10].
• congenital myasthenic syndrome 2C's genetic association is recorded as CHRNB1^[11].
• congenital myasthenic syndrome 2C's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110680^[12].
• congenital myasthenic syndrome 2C's exact match is recorded as http://identifiers.org/doid/DOID:0110680^[13].
• congenital myasthenic syndrome 2C's UMLS CUI is recorded as C4225373^[14].
• congenital myasthenic syndrome 2C's on focus list of Wikimedia project is recorded as WikiProject Medicine^[15].
• congenital myasthenic syndrome 2C's Mondo ID is recorded as MONDO_0014582^[16].
• congenital myasthenic syndrome 2C's UniProt disease ID is recorded as DI-04398^[17].