loading...| Preferred Name |
Charcot-Marie-Tooth disease, X-linked, 1 |
| Synonyms |
Charcot-Marie-Tooth peroneal muscular atrophy, X-linked |
| ID |
http://purl.bioontology.org/ontology/MESH/C535919 |
| altLabel |
Charcot-Marie-Tooth peroneal muscular atrophy, X-linked Charcot-Marie-Tooth Neuropathy, X-Linked, 1 HMSN, X-linked CMTX 1 Cmtx1 Hereditary motor and sensory neuropathy, X-linked |
| cui |
C0393808 |
| HM |
D002607 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
30 |
| MMR |
20150818 |
| notation |
C535919 |
| prefLabel |
Charcot-Marie-Tooth disease, X-linked, 1 |
| SC |
3 |
| Scope Statement |
An X-linked dominant form of Charcot-Marie-Tooth Disease that is characterized by severely reduced motor nerve conduction velocities (NCV) (less than 38 m/s) and segmental DEMYELINATION and remyelination with onion bulb formations on nerve biopsy. Mutations in the GJB1 gene have been identified. |
| TERMUI |
T737662 T737666 T828175 T737667 T801659 T801658 T737665 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/302800 | Online Mendelian Inheritance in Man | CUI | |
| http://purl.bioontology.org/ontology/OMIM/304040 | Online Mendelian Inheritance in Man | CUI |