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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: HNPP, current pressure-sensitive neuropathy, familial recurrent polyneuropathy, heterozygous microdeletion 17p11.2p12, potato-grubbing palsy, tomaculous neuropathy, tulip-bulb digger's palsy,
Xenbase Genes : pmp22
MONDO:0008087 - hereditary neuropathy with liability to pressure palsies |
Other Model Organisms: AGR, 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)