congenital myasthenic syndrome 1B
congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q
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congenital myasthenic syndrome 1B
Summary
congenital myasthenic syndrome 1B is a rare disease[1].
Key Facts
- congenital myasthenic syndrome 1B's instance of is recorded as rare disease[2].
- congenital myasthenic syndrome 1B's instance of is recorded as class of disease[3].
- congenital myasthenic syndrome 1B's subclass of is recorded as congenital myasthenic syndrome[4].
- congenital myasthenic syndrome 1B's subclass of is recorded as genetic disease[5].
- congenital myasthenic syndrome 1B's OMIM ID is recorded as 608930[6].
- congenital myasthenic syndrome 1B's Disease Ontology ID is recorded as DOID:0110662[7].
- congenital myasthenic syndrome 1B's genetic association is recorded as CHRNA1[8].
- congenital myasthenic syndrome 1B's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110662[9].
- congenital myasthenic syndrome 1B's exact match is recorded as http://identifiers.org/doid/DOID:0110662[10].
- congenital myasthenic syndrome 1B's UMLS CUI is recorded as C1837122[11].
- congenital myasthenic syndrome 1B's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
- congenital myasthenic syndrome 1B's Mondo ID is recorded as MONDO_0012156[13].
- congenital myasthenic syndrome 1B's UniProt disease ID is recorded as DI-00367[14].