Charcot-Marie-Tooth disease, type 4B1

Preferred Label : Charcot-Marie-Tooth disease, type 4B1;

MeSH note : mutation in MTMR2;

MeSH synonym : Charcot-Marie-Tooth disease, type 4B; CMT4B; Charcot-Marie-Tooth neuropathy, type 4B1; Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4b1; CMT4B1;

Details

Origin ID

C535420;

UMLS CUI

C1832399;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 4B1 [DO Concept]
- Charcot-Marie-Tooth disease type 4B1 [ORDO Disease]
- Charcot-Marie-Tooth disease type 4B1 (disorder) [SNOMED CT concept]
- Charcot-marie-tooth disease, demyelinating, type 4b1 [OMIM Phenotype]
MeSH term(s) associated for indexing
- charcot-marie-tooth disease [MeSH Descriptor]
ORDO relation(s)
- Charcot-Marie-Tooth disease type 4B1 [ORDO Disease]
Record concept(s)
- Charcot-Marie-Tooth disease, Type 4B1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 4B1 [ORDO Disease]
- Charcot-Marie-Tooth disease type 4B1 [DO Concept]
- Charcot-Marie-Tooth disease type 4B1 (disorder) [SNOMED CT concept]
- Charcot-marie-tooth disease, demyelinating, type 4b1 [OMIM Phenotype]

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