Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Hereditary neuropathy with liability to pressure palsies
Synonyms

HNPP

Tomaculous neuropathy

Potato-grubbing palsy

Tulip-bulb digger's palsy

Current pressure-sensitive neuropathy

Heterozygous microdeletion 17p11.2p12

Definitions

A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people.

ID

http://www.orpha.net/ORDO/Orphanet_640

alternative_term

HNPP

Tomaculous neuropathy

Potato-grubbing palsy

Tulip-bulb digger's palsy

Current pressure-sensitive neuropathy

Heterozygous microdeletion 17p11.2p12

definition

A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=640

has_age_of_onset

Adolescent

Adult

Childhood

Elderly

Infancy

has_inheritance

Autosomal dominant

hasDbXref

ICD-10:G60.0

MeSH:C536965

ICD-11:8C20.Y

OMIM:162500

UMLS:C0393814

MedDRA:10069382

label

Hereditary neuropathy with liability to pressure palsies

notation

ORPHA:640

part_of

http://www.orpha.net/ORDO/Orphanet_140453

http://www.orpha.net/ORDO/Orphanet_261965

prefixIRI

ORDO:Orphanet_640

prefLabel

Hereditary neuropathy with liability to pressure palsies

present_in

Finland AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000

Europe AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_140453

http://www.orpha.net/ORDO/Orphanet_261965

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

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