Search Ontology:
Human Disease

hereditary neuropathy with liability to pressure palsies

Term ID
DOID:0060843
Synonyms
  • current pressure-sensitive neuropathy
  • familial recurrent polyneuropathy
  • heterozygous microdeletion 17p11.2p12
  • HNPP
  • potato-grubbing palsy
  • tomaculous neuropathy
  • tulip-bulb digger's palsy
Definition
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. (3)
References
Ontology
Human Disease   ( DOID:0060843 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models