loading...| Preferred Name |
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES |
| Synonyms |
POLYNEUROPATHY, FAMILIAL RECURRENT |
| ID |
http://purl.bioontology.org/ontology/OMIM/162500 |
| altLabel |
POLYNEUROPATHY, FAMILIAL RECURRENT HNPP TOMACULOUS NEUROPATHY |
| cui |
C0393814 |
| Gene Locus |
17p11.2 |
| Gene Symbol |
CMT1E CIDP PMP22 CMT1A DSS |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU016706 http://purl.bioontology.org/ontology/OMIM/MTHU016708 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 |
Precipitated by mechanical compression or pressure on nerve [MISCELLANEOUS] Onset in first and second decades [MISCELLANEOUS] Caused by mutation in the gene encoding peripheral myelin protein-22 (PMP22, 601097.0004) [MOLECULAR BASIS] Allelic disorder to Charcot-Marie-Tooth disease type 1A (118220) [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C536965 | Medical Subject Headings / 医学主题词表 | CUI |