RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. (DO)
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar Annotator: match by term: CONGENITAL MYASTHENIC SYNDROME TYPE Ia1 ClinVar Annotator: match by OMIM:605809
ClinVar Annotator: match by term: Myasthenia, familial infantile, 1 ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar Annotator: match by term: CONGENITAL MYASTHENIC SYNDROME TYPE Ia1