| Metadata | |
|---|---|
| ID | DOID:0060843 |
| Name | hereditary neuropathy with liability to pressure palsies |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/12682341, https://www.ncbi.nlm.nih.gov/pubmed/2540008, https://www.ncbi.nlm.nih.gov/pubmed/8422677 |
| Xrefs |
SNOMEDCT_US_2023_03_01:230558006 |
| Subsets |
DO_rare_slim |
| Synonyms |
current pressure-sensitive neuropathy [EXACT] familial recurrent polyneuropathy [EXACT] heterozygous microdeletion 17p11.2p12 [EXACT] HNPP [EXACT] potato-grubbing palsy [EXACT] tomaculous neuropathy [EXACT] tulip-bulb digger's palsy [EXACT] |
| Parent Relationships |
is_a neuropathy |