hereditary neuropathy with liability to pressure palsies Disease Ontology Browser

Disease Ontology Browser

hereditary neuropathy with liability to pressure palsies (DOID:0060843)
Alliance: disease page
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, MESH:C536965, 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 (4)

Allelic Composition	Genetic Background	Reference	Phenotypes
Pmp22tm1Ueli/Pmp22tm1Ueli	involves: 129S/SvEv	J:29517	View
Pmp22Tr-2J/Pmp22+	C57BL/6J-Pmp22^Tr-2J/GrsrJ	J:201866	View
Pmp22tm1Lnot/Pmp22+	Not Specified	J:104989	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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