hereditary neuropathy with liability to pressure palsies

Summary

DOID:0060843 - hereditary neuropathy with liability to pressure palsies

Disease Ontology 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.

Synonyms: current pressure-sensitive neuropathy, familial recurrent polyneuropathy, heterozygous microdeletion 17p11.2p12, HNPP, potato-grubbing palsy, tomaculous neuropathy, tulip-bulb digger's palsy

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pmp22

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008087 - hereditary neuropathy with liability to pressure palsies

MONDO:0008087 - hereditary neuropathy with liability to pressure palsies

MIM:

MIM:162500 - NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP

MIM:162500 - NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), neuropathy (is_a)