loading...| Preferred Name |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B |
| Synonyms |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M |
| ID |
http://purl.bioontology.org/ontology/OMIM/606482 |
| altLabel |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M DI-CMTB CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA CMTDIB CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA CMT2M CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M CMTDI1 |
| cui |
C1847902 C1847903 |
| Gene Locus |
19p13.2 |
| Gene Symbol |
CMTDIB LCCS5 DNM2 CMT2M CMTDI1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002722 http://purl.bioontology.org/ontology/OMIM/MTHU025347 http://purl.bioontology.org/ontology/OMIM/MTHU029532 http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU025345 http://purl.bioontology.org/ontology/OMIM/MTHU001831 http://purl.bioontology.org/ontology/OMIM/MTHU004019 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU000326 http://purl.bioontology.org/ontology/OMIM/MTHU002354 http://purl.bioontology.org/ontology/OMIM/MTHU025346 http://purl.bioontology.org/ontology/OMIM/MTHU004020 http://purl.bioontology.org/ontology/OMIM/MTHU029531 http://purl.bioontology.org/ontology/OMIM/MTHU001811 http://purl.bioontology.org/ontology/OMIM/MTHU000325 http://purl.bioontology.org/ontology/OMIM/MTHU002353 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
606482 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B |
| tui |
T047 |