congenital myasthenic syndrome 21
congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has material basis in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11
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congenital myasthenic syndrome 21
Summary
congenital myasthenic syndrome 21 is a rare disease[1].
Key Facts
- congenital myasthenic syndrome 21's instance of is recorded as rare disease[2].
- congenital myasthenic syndrome 21's instance of is recorded as class of disease[3].
- congenital myasthenic syndrome 21's subclass of is recorded as congenital myasthenic syndrome[4].
- congenital myasthenic syndrome 21's subclass of is recorded as genetic disease[5].
- congenital myasthenic syndrome 21's subclass of is recorded as autosomal recessive disease[6].
- congenital myasthenic syndrome 21's OMIM ID is recorded as 617239[7].
- congenital myasthenic syndrome 21's Disease Ontology ID is recorded as DOID:0110672[8].
- congenital myasthenic syndrome 21's genetic association is recorded as SLC18A3[9].
- congenital myasthenic syndrome 21's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110672[10].
- congenital myasthenic syndrome 21's exact match is recorded as http://identifiers.org/doid/DOID:0110672[11].
- congenital myasthenic syndrome 21's UMLS CUI is recorded as C4310654[12].
- congenital myasthenic syndrome 21's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- congenital myasthenic syndrome 21's Mondo ID is recorded as MONDO_0014983[14].
- congenital myasthenic syndrome 21's UniProt disease ID is recorded as DI-04909[15].