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Medical Subject Headings
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/C537990
http://purl.bioontology.org/ontology/MESH/C537990
|
|---|---|
| Preferred Name | Charcot-Marie-Tooth disease, Type 2B1 |
| Synonyms |
Charcot-Marie-Tooth disease, neuronal, Type 2B1
Charcot-Marie-Tooth disease, axonal, Type 2B1
CMT2B1
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1
Charcot-Marie-Tooth Neuropathy, Type 2b1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Charcot-Marie-Tooth disease, neuronal, Type 2B1
Charcot-Marie-Tooth disease, axonal, Type 2B1
CMT2B1
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1
Charcot-Marie-Tooth Neuropathy, Type 2b1
|
|---|---|
| prefLabel |
Charcot-Marie-Tooth disease, Type 2B1
|
| TH |
OMIM (2013)
ORD (2010)
|
| notation |
C537990
|
| MMR |
20200221
|
| MeSH Frequency |
1
|
| Semantic type UMLS property | |
| HM |
D000083083
D002607
|
| Inverse of RB |
0
|
| MDA |
20100825
|
| SC |
3
|
| type | |
| Mapped to | |
| tui |
T047
|
| cui |
C1854154
|
| TERMUI |
T744381
T806582
T744382
T744380
T744379
T806581
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