loading...| Preferred Name |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I |
| Synonyms |
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2I |
| ID |
http://purl.bioontology.org/ontology/OMIM/607677 |
| altLabel |
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2I CMT2I |
| cui |
C3888087 |
| Gene Locus |
1q22 |
| Gene Symbol |
CMTDID MPZ CMT1B CHN2 DSS |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002722 http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU000326 http://purl.bioontology.org/ontology/OMIM/MTHU000325 http://purl.bioontology.org/ontology/OMIM/MTHU002899 http://purl.bioontology.org/ontology/OMIM/MTHU001014 http://purl.bioontology.org/ontology/OMIM/MTHU001004 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
607677 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I |
| Scope Statement |
Onset in fourth to sixth decade [MISCELLANEOUS] Genetic heterogeneity of axonal CMT (see CMT2A 118210) [MISCELLANEOUS] Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS] Caused by mutation in the myelin protein zero gene (MPZ, 159440.0017) [MOLECULAR BASIS] Upper limb involvement may occur later [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C535416 | Medical Subject Headings / 医学主题词表 | CUI |