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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/09/2024 MGI 6.23