loading...| Preferred Name |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D |
|
| Synonyms |
CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/607791 |
|
| altLabel |
CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D CMTDID DI-CMTD |
|
| cui |
C1843075 |
|
| Gene Locus |
1q22 |
|
| Gene Symbol |
DSS CMTDID CHN2 MPZ CMT1B |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU002780 http://purl.bioontology.org/ontology/OMIM/MTHU002781 http://purl.bioontology.org/ontology/OMIM/MTHU001014 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU000325 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
607791 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D |
|
| Scope Statement |
Caused by mutation in the myelin protein zero gene (MPZ, 159440.0018) [MOLECULAR BASIS] Upper limb involvement may occur later [MISCELLANEOUS] Begins in feet and legs (peroneal distribution) [MISCELLANEOUS] Features intermediate between demyelinating CMT and axonal CMT [MISCELLANEOUS] |
|
| tui |
T047 |