RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
hereditary neuropathy with liability to pressure palsies
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. (DO)
Synonyms:
exact_synonym:
HNPP; compression neuropathy; current pressure-sensitive neuropathy; familial pressure sensitive neuropathy; familial recurrent polyneuropathy; hereditary liability to pressure palsies; hereditary neuropathy with liability to pressure palsy; hereditary pressure sensitive neuropathy; heterozygous microdeletion 17p11.2p12; inherited tendency to pressure palsies; potato-grubbing palsy; tomaculous neuropathy; tulip-bulb digger's palsy
CTD Direct Evidence: marker/mechanism OMIM:162500 ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies | ClinVar Annotator: match by term: Hereditary liability to pressure palsies | ClinVar Annotator: match by term: Tomaculous neuropathy