congenital myasthenic syndrome 12

Summary

congenital myasthenic syndrome 12 is a rare disease^[1].

Key Facts

• congenital myasthenic syndrome 12's instance of is recorded as rare disease^[2].
• congenital myasthenic syndrome 12's instance of is recorded as class of disease^[3].
• congenital myasthenic syndrome 12's subclass of is recorded as congenital myasthenic syndrome^[4].
• congenital myasthenic syndrome 12's subclass of is recorded as genetic disease^[5].
• congenital myasthenic syndrome 12's subclass of is recorded as autosomal recessive disease^[6].
• congenital myasthenic syndrome 12's OMIM ID is recorded as 610542^[7].
• congenital myasthenic syndrome 12's Disease Ontology ID is recorded as DOID:0110660^[8].
• congenital myasthenic syndrome 12's NCI Thesaurus ID is recorded as C168997^[9].
• congenital myasthenic syndrome 12's genetic association is recorded as GFPT1^[10].
• congenital myasthenic syndrome 12's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110660^[11].
• congenital myasthenic syndrome 12's exact match is recorded as http://identifiers.org/doid/DOID:0110660^[12].
• congenital myasthenic syndrome 12's UMLS CUI is recorded as C1864649^[13].
• congenital myasthenic syndrome 12's UMLS CUI is recorded as C3552335^[14].
• congenital myasthenic syndrome 12's on focus list of Wikimedia project is recorded as WikiProject Medicine^[15].
• congenital myasthenic syndrome 12's Mondo ID is recorded as MONDO_0012518^[16].
• congenital myasthenic syndrome 12's UniProt disease ID is recorded as DI-03084^[17].