You are using an outdated browser. Please upgrade your browser to improve your experience.

hereditary neuropathy with liability to pressure palsies

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.
Uniprot Description A neurologic disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas.
Disease Ontology Description A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has material basis in deletion or point mutation of the PMP22 gene on chromosome 17p12.
Mondo Term and Equivalent IDs
MONDO:0008087:  hereditary neuropathy with liability to pressure palsies
GARD:0005221: 
MESH:C536965: 
Orphanet:640: 
SCTID:230558006: