loading...| Preferred Name |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J |
| Synonyms |
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J |
| ID |
http://purl.bioontology.org/ontology/OMIM/607736 |
| altLabel |
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, WITH HEARING LOSS AND PUPILLARY ABNORMALITIES CMT2J |
| cui |
C1843153 |
| Gene Locus |
1q22 |
| Gene Symbol |
CMTDID MPZ CMT1B CHN2 DSS |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU002825 http://purl.bioontology.org/ontology/OMIM/MTHU001005 http://purl.bioontology.org/ontology/OMIM/MTHU002820 http://purl.bioontology.org/ontology/OMIM/MTHU002823 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU000326 http://purl.bioontology.org/ontology/OMIM/MTHU002824 http://purl.bioontology.org/ontology/OMIM/MTHU002822 http://purl.bioontology.org/ontology/OMIM/MTHU000325 http://purl.bioontology.org/ontology/OMIM/MTHU002826 http://purl.bioontology.org/ontology/OMIM/MTHU068594 http://purl.bioontology.org/ontology/OMIM/MTHU001014 http://purl.bioontology.org/ontology/OMIM/MTHU001004 http://purl.bioontology.org/ontology/OMIM/MTHU002821 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
607736 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J |
| Scope Statement |
Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS] Caused by mutations in the myelin protein zero gene (MPZ, 159440.0016) [MOLECULAR BASIS] Sensorineural hearing loss may be presenting feature [MISCELLANEOUS] Onset in fourth to sixth decades [MISCELLANEOUS] Upper limb involvement occurs later [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C535417 | Medical Subject Headings / 医学主题词表 | CUI |