Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/162500
http://purl.bioontology.org/ontology/OMIM/162500
|
|---|---|
| Preferred Name | NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES |
| Synonyms |
HNPP
POLYNEUROPATHY, FAMILIAL RECURRENT
TOMACULOUS NEUROPATHY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HNPP
POLYNEUROPATHY, FAMILIAL RECURRENT
TOMACULOUS NEUROPATHY
|
|---|---|
| prefLabel | NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES
|
| Gene Symbol |
DSS
CMT1A
CIDP
CMT1E
PMP22
|
| Scope Statement | Onset in first and second decades [MISCELLANEOUS]
Caused by mutation in the gene encoding peripheral myelin protein-22 (PMP22, 601097.0004) [MOLECULAR BASIS]
Precipitated by mechanical compression or pressure on nerve [MISCELLANEOUS]
Allelic disorder to Charcot-Marie-Tooth disease type 1A (118220) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 17p11.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 162500
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0393814
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |