Preferred Name | Cardiomyopathy, Hypertrophic, Familial [Disease/Finding] | |
Synonyms |
Cardiomyopathy, Familial Hypertrophic Asymmetric Septal Hypertrophy, Familial Cardiomyopathy, Hypertrophic, Familial Ventricular Hypertrophy, Familial Familial Hypertrophic Cardiomyopathy Hereditary Ventricular Hypertrophy Ventricular Hypertrophy, Hereditary |
|
ID |
http://purl.bioontology.org/ontology/NDFRT/N0000011119 |
|
altLabel |
Cardiomyopathy, Familial Hypertrophic Asymmetric Septal Hypertrophy, Familial Cardiomyopathy, Hypertrophic, Familial Ventricular Hypertrophy, Familial Familial Hypertrophic Cardiomyopathy Hereditary Ventricular Hypertrophy Ventricular Hypertrophy, Hereditary |
|
cui |
C0949658 |
|
MESH DEFINITION |
An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN. |
|
MESH DUI |
D024741 |
|
MeSH name |
Cardiomyopathy, Hypertrophic, Familial |
|
MESH UI |
M0371730 |
|
NDFRT kind |
DISEASE_KIND |
|
notation |
N0000011119 |
|
NUI |
N0000011119 |
|
prefLabel |
Cardiomyopathy, Hypertrophic, Familial [Disease/Finding] |
|
tui |
T047 |
|
subClassOf |