Charcot-Marie-Tooth disease, guadalajara neuronal type

Preferred Label : Charcot-Marie-Tooth disease, guadalajara neuronal type;

MeSH note : congenital contraction deformities of feet, delayed motor development, laryngeal abnormalities, peculiar facies, short neck, narrow shoulders, protruding chest, inspiratory stridor at birth and flexion contractures.;

Details

Origin ID

C566137;

UMLS CUI

C1861673;

Currated CISMeF NLP mapping
- Charcot-marie-tooth disease, guadalajara neuronal type [OMIM Phenotype]
MeSH term(s) associated for indexing
- charcot-marie-tooth disease [MeSH Descriptor]
- facies [MeSH Descriptor]
Record concept(s)
- Charcot-Marie-Tooth disease, guadalajara neuronal type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-marie-tooth disease, guadalajara neuronal type [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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