Term Name: | hereditary neuropathy with liability to pressure palsies |
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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. |
Ontology: | Human Disease [DOID:0060843] ( DOID:0060843 ) |