loading...| Preferred Name |
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES |
|
| Synonyms |
HNPP |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/162500 |
|
| altLabel |
HNPP POLYNEUROPATHY, FAMILIAL RECURRENT TOMACULOUS NEUROPATHY |
|
| cui |
C0393814 |
|
| Gene Locus |
17p11.2 |
|
| Gene Symbol |
DSS CMT1A CIDP CMT1E PMP22 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU016708 http://purl.bioontology.org/ontology/OMIM/MTHU004918 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU002832 http://purl.bioontology.org/ontology/OMIM/MTHU016707 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
162500 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES |
|
| 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] |
|
| tui |
T047 |