loading...| Preferred Name | Cardiomyopathy, Hypertrophic, Familial | |
| Synonyms |
Ventricular Hypertrophies, Familial Familial Hypertrophic Cardiomyopathies Hypertrophy, Familial Ventricular Ventricular Hypertrophies, Hereditary Hereditary Ventricular Hypertrophies Hypertrophies, Hereditary Ventricular Cardiomyopathy, Familial Hypertrophic Familial Ventricular Hypertrophy Asymmetric Septal Hypertrophy, Familial Hypertrophic Subaortic Stenosis, Idiopathic Hypertrophy, Hereditary Ventricular Cardiomyopathies, Familial Hypertrophic Ventricular Hypertrophy, Familial Obstructive Asymmetric Septal Hypertrophy Hypertrophic Cardiomyopathies, Familial Hypertrophic Cardiomyopathy, Familial Familial Hypertrophic Cardiomyopathy Familial Ventricular Hypertrophies Hereditary Ventricular Hypertrophy Ventricular Hypertrophy, Hereditary |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D024741 |
|
| altLabel |
Ventricular Hypertrophies, Familial Familial Hypertrophic Cardiomyopathies Hypertrophy, Familial Ventricular Ventricular Hypertrophies, Hereditary Hereditary Ventricular Hypertrophies Hypertrophies, Hereditary Ventricular Cardiomyopathy, Familial Hypertrophic Familial Ventricular Hypertrophy Asymmetric Septal Hypertrophy, Familial Hypertrophic Subaortic Stenosis, Idiopathic Hypertrophy, Hereditary Ventricular Cardiomyopathies, Familial Hypertrophic Ventricular Hypertrophy, Familial Obstructive Asymmetric Septal Hypertrophy Hypertrophic Cardiomyopathies, Familial Hypertrophic Cardiomyopathy, Familial Familial Hypertrophic Cardiomyopathy Familial Ventricular Hypertrophies Hereditary Ventricular Hypertrophy Ventricular Hypertrophy, Hereditary |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0949658 C0700053 C0597124 |
|
| DC |
1 |
|
| 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. |
|
| DX |
20020101 |
|
| FX |
D014335 D024723 D020107 |
|
| HN |
2002 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D024722 http://purl.bioontology.org/ontology/MESH/D024723 |
|
| Machine permutation |
2002 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C566169 http://purl.bioontology.org/ontology/MESH/C566170 http://purl.bioontology.org/ontology/MESH/C566171 http://purl.bioontology.org/ontology/MESH/C563865 http://purl.bioontology.org/ontology/MESH/C563866 http://purl.bioontology.org/ontology/MESH/C566044 http://purl.bioontology.org/ontology/MESH/C563436 http://purl.bioontology.org/ontology/MESH/C567686 http://purl.bioontology.org/ontology/MESH/C567684 http://purl.bioontology.org/ontology/MESH/C567681 |
|
| MDA |
20010725 |
|
| MMR |
20200228 |
|
| MN |
C14.280.238.100.500 C14.280.484.048.750.070.160.500 C16.320.160 |
|
| notation |
D024741 |
|
| prefLabel |
Cardiomyopathy, Hypertrophic, Familial |
|
| TERMUI |
T548677 T432009 T427490 T548678 T834089 T548676 T834087 T751035 T834088 |
|
| TH |
OMIM (2013) NLM (2002) NLM (2005) NLM (2010) NLM (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |