Congenital Myasthenic Syndrome 12

Preferred Label : Congenital Myasthenic Syndrome 12;

NCIt synonyms : CMS12;

NCIt definition : An autosomal recessive form of congenital myasthenic syndrome caused by mutation(s) in the GFPT1 gene, encoding glutamine--fructose-6-phosphate aminotransferase 1.;

Details

Origin ID

C168997;

UMLS CUI

C3552335;

Currated CISMeF NLP mapping
- Myasthenic syndrome, congenital, 12 [OMIM Phenotype]
- congenital myasthenic syndrome 12 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myasthenic syndrome, congenital, 12 [OMIM Phenotype]
- congenital myasthenic syndrome 12 [DO 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
- GFPT1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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