Charcot-Marie-Tooth neuropathy, type 4B2, with Early-Onset glaucoma

Preferred Label : Charcot-Marie-Tooth neuropathy, type 4B2, with Early-Onset glaucoma;

MeSH note : mutation in SBF2;

Origin ID

C565761;

UMLS CUI

C1858280;

Automatic exact mappings (from CISMeF team)
- Charcot-marie-tooth disease, demyelinating, type 4b2 [OMIM Phenotype]
MeSH term(s) associated for indexing
- charcot-marie-tooth disease [MeSH Descriptor]
- glaucoma [MeSH Descriptor]
Record concept(s)
- Charcot-Marie-Tooth neuropathy, type 4B2, with Early-Onset glaucoma [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]