loading...| Preferred Name |
Tomaculous neuropathy |
| Synonyms |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
| ID |
http://purl.bioontology.org/ontology/MESH/C536965 |
| altLabel |
Neuropathy, Hereditary, With Liability To Pressure Palsies Hereditary Pressure Sensitive Neuropathy Polyneuropathy, familial recurrent Compression Neuropathy Inherited Tendency To Pressure Palsies Familial Pressure Sensitive Neuropathy Hereditary Neuropathy with Liability to Pressure Palsy Hereditary Neuropathy with Liability To Pressure Palsies |
| cui |
C0393814 |
| HM |
D015417 D001176 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
157 |
| MMR |
20150818 |
| notation |
C536965 |
| prefLabel |
Tomaculous neuropathy |
| SC |
3 |
| Scope Statement |
A hereditary neuropathy and arthrogryposis that manifests after prolonged periods of work in a kneeling position. It typically occurs in young adult males and is characterized by nerve conduction block and electrophysiologic abnormalities; segmental DEMYELINATION; and the presence of of sausage-shaped (tomaculous) swellings along the MYELIN SHEATH of sensory and motor nerves. Germline mutations and deletions in the PMP22 gene have been identified. OMIM: 162500 |
| TERMUI |
T841627 T801660 T741014 T798897 T841629 T841630 T741017 T841626 T841631 |
| TH |
NLM (2012) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |