Charcot-marie-tooth disease, demyelinating, type 1h

Preferred Label : Charcot-marie-tooth disease, demyelinating, type 1h;

Symbol : CMT1H;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, type 1h; Neuropathy, hereditary, with or without age-related macular degeneration; Hereditary motor and sensory neuropathy, ih; HNARMD;

Prefixed ID : #619764;

Details

Origin ID

619764;

UMLS CUI

C5676926;

Genes related to phenotype
- Fibulin 5 [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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