Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS

Synonyms

CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

ID

http://purl.bioontology.org/ontology/OMIM/214370

altLabel

CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE

cui

C1861669

MIMTYPEMEANING

Mendelian phenotype or locus, molecular basis unknown.

notation

214370

OMIM Entry Type

5

OMIM MimType Value

perc

prefLabel

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS

tui

T047

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http://purl.bioontology.org/ontology/MESH/C538078 Medical Subject Headings CUI