loading...| Preferred Name |
Tomaculous neuropathy |
|
| Synonyms |
Inherited Tendency To Pressure Palsies |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536965 |
|
| altLabel |
Inherited Tendency To Pressure Palsies Compression Neuropathy Hereditary Pressure Sensitive Neuropathy Hereditary Neuropathy with Liability to Pressure Palsy Neuropathy, Hereditary, With Liability To Pressure Palsies Hereditary Neuropathy with Liability To Pressure Palsies Familial Pressure Sensitive Neuropathy Polyneuropathy, familial recurrent |
|
| cui |
C0393814 |
|
| HM |
D001176 D015417 |
|
| 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 |
T841630 T741017 T798897 T841627 T741014 T841626 T801660 T841631 T841629 |
|
| TH |
OMIM (2013) NLM (2012) GHR (2014) ORD (2010) |
|
| tui |
T047 |