hypertrophic interstitial neuropathy of infancy
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
peripheral neuropathy |
| gptkbp:affects |
peripheral nerves
|
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:hasFinding |
nerve hypertrophy
onion bulb formation |
| https://www.w3.org/2000/01/rdf-schema#label |
hypertrophic interstitial neuropathy of infancy
|
| gptkbp:onset |
infancy
|
| gptkbp:subclassOf |
gptkb:hereditary_spastic_paraplegia
|
| gptkbp:symptom |
hypotonia
muscle atrophy muscle weakness areflexia delayed motor development |
| gptkbp:synonym |
gptkb:Dejerine–Sottas_disease
congenital hypertrophic neuropathy |
| gptkbp:bfsParent |
gptkb:Dejerine–Sottas_disease
|
| gptkbp:bfsLayer |
8
|