myotonia with skeletal abnormalities and mental retardation - CISMeF

CISMeF

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Myotonia with skeletal abnormalities and mental retardationMeSH concept

Preferred Label : myotonia with skeletal abnormalities and mental retardation;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0565267;

UMLS CUI

C1850654;

Currated CISMeF NLP mapping
- Myotonia with skeletal abnormalities and impaired intellectual development [OMIM Phenotype]
Related record
- myotonia with skeletal abnormalities and mental retardation [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myotonia with skeletal abnormalities and impaired intellectual development [OMIM Phenotype]

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25/05/2025

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