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 autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)
Synonyms:
exact_synonym:
CMS Id; CMS1D; CMS4C; FIM1; Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency; congenital myasthenic syndrome 4C, associated with acetylcholine receptor deficiency; congenital myasthenic syndrome type Id; familial infantile myasthenia 1; postsynaptic congenital myasthenic syndrome associated with acetylcholine receptor deficiency
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency
CTD Direct Evidence: marker/mechanism OMIM:608931 ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency
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