Tomaculous neuropathy

Neuropathy, Hereditary, With Liability To Pressure Palsies

http://purl.bioontology.org/ontology/MESH/C536965

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

C0393814

D015417

D001176

0

http://purl.bioontology.org/ontology/MESH/D015417

http://purl.bioontology.org/ontology/MESH/D001176

20100825

107

20150818

C536965

Tomaculous neuropathy

3

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

T841627

T801660

T741014

T798897

T841629

T841630

T741017

T841626

T841631

NLM (2012)

ORD (2010)

OMIM (2013)

GHR (2014)

T047