myotonia with skeletal abnormalities and mental retardation

Preferred Label : myotonia with skeletal abnormalities and mental retardation;

Origin ID

C564967;

UMLS CUI

C1850654;

Currated CISMeF NLP mapping
- Myotonia with skeletal abnormalities and mental retardation [OMIM Phenotype]
MeSH term(s) associated for indexing
- bone and bones [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- myotonia congenita [MeSH Descriptor]
Record concept(s)
- myotonia with skeletal abnormalities and mental retardation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myotonia with skeletal abnormalities and mental retardation [OMIM Phenotype]