Congenital Myasthenic Syndrome 5

Preferred Label : Congenital Myasthenic Syndrome 5;

NCIt synonyms : CMS5; EAD; Endplate Acetylcholinesterase Deficiency;

NCIt definition : Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.;

Details

Origin ID

C129304;

UMLS CUI

C1864233;

Automatic exact mappings (from CISMeF team)
- collagen like tail subunit of asymmetric acetylcholinesterase [ORDO Gene]
Currated CISMeF NLP mapping
- Congenital end-plate acetylcholinesterase deficiency (disorder) [SNOMED CT concept]
- Myasthenic syndrome, congenital, 5 [OMIM Phenotype]
- congenital myasthenic syndrome 5 [DO Concept]
- endplate acetylcholinesterase deficiency [MeSH Supplementary Concept]
- endplate acetylcholinesterase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myasthenic syndrome, congenital, 5 [OMIM Phenotype]
- congenital myasthenic syndrome 5 [DO Concept]
- endplate acetylcholinesterase deficiency [MeSH Supplementary Concept]
- endplate acetylcholinesterase deficiency [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- COLQ Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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