| Preferred Name |
Hereditary Motor And Sensory Neuropathy, Type IIC |
| Synonyms |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2C |
| ID |
http://purl.bioontology.org/ontology/MESH/C565261 |
| altLabel |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2C HMSN2C Charcot-Marie-Tooth Neuropathy, Type 2C HMSN IIC CMT2C |
| cui |
C1853710 |
| HM |
D002607 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121105 |
| MeSH Frequency |
0 |
| notation |
C565261 |
| prefLabel |
Hereditary Motor And Sensory Neuropathy, Type IIC |
| SC |
3 |
| Scope Statement |
mutation in TRPV4 |
| TERMUI |
T823650 T823652 T823651 T823648 T823649 T823647 |
| TH |
NLM (2013) OMIM (2013) |
| tui |
T047 |