Search Ontology:
Human Disease

Charcot-Marie-tooth disease type 1H

Term ID
DOID:0070833
Synonyms
  • CMT1H
Definition
A Charcot-Marie-Tooth disease type 1 characterized by foot deformities, upper or lower limb sensory disturbances, and motor deficits (mainly impaired gait) that has_material_basis_in heterozygous mutation in the FBLN5 gene, encoding fibulin-5, on chromosome 14q32. The disorder is slowly progressive and becomes more apparent with age. (2)
References
Ontology
Human Disease   ( DOID:0070833 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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