loading...| Preferred Name |
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy |
|
| Synonyms |
Charcot-Marie-Tooth hereditary neuropathy CMT/HMSN |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_166 |
|
| alternative_term |
Charcot-Marie-Tooth hereditary neuropathy CMT/HMSN |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
X-linked dominant Autosomal recessive X-linked recessive Autosomal dominant |
|
| hasDbXref |
MeSH:D002607 UMLS:C0007959 MedDRA:10034699 ICD-11:8C20 |
|
| label |
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy |
|
| notation |
Category ORPHA:166 |
|
| prefixIRI |
ORDO:Orphanet_166 |
|
| prefLabel |
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy |
|
| present_in |
United Kingdom AND has_point_prevalence_average_value : 15.95 AND has_point_prevalence_range : 1-5 / 10 000 Iceland AND has_point_prevalence_average_value : 12.0 AND has_point_prevalence_range : 1-5 / 10 000 Serbia AND has_point_prevalence_average_value : 9.7 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 17.5 AND has_point_prevalence_range : 1-5 / 10 000 Norway AND has_point_prevalence_average_value : 61.0 AND has_point_prevalence_range : 6-9 / 10 000 Cyprus AND has_point_prevalence_average_value : 16.0 AND has_point_prevalence_range : 1-5 / 10 000 Denmark AND has_point_prevalence_average_value : 6.1 AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 10.8 AND has_point_prevalence_range : 1-5 / 10 000 Sweden AND has_point_prevalence_average_value : 19.55 AND has_point_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 25.0 AND has_point_prevalence_range : 1-5 / 10 000 Spain AND has_point_prevalence_average_value : 28.2 AND has_point_prevalence_range : 1-5 / 10 000 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_166 | EFO | SAME_URI |