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Disease Ontology Browser
hereditary neuropathy with liability to pressure palsies (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
Alt IDs: OMIM:162500, ICD10CM:G60.0, ORDO:640, UMLS_CUI:C0393814
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.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/12/2017
MGI 6.10
The Jackson Laboratory