loading...| Preferred Name |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
|
| Synonyms |
CMH CMH1 VENTRICULAR HYPERTROPHY, HEREDITARY ASH HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC ASYMMETRIC SEPTAL HYPERTROPHY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/192600 |
|
| altLabel |
CMH CMH1 VENTRICULAR HYPERTROPHY, HEREDITARY ASH HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC ASYMMETRIC SEPTAL HYPERTROPHY |
|
| cui |
C3495498 C0949658 C0700053 C0205700 |
|
| Gene Locus |
20q13.3 |
|
| Gene Symbol |
MLCK MYLK2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU011222 http://purl.bioontology.org/ontology/OMIM/MTHU037194 http://purl.bioontology.org/ontology/OMIM/MTHU006088 http://purl.bioontology.org/ontology/OMIM/MTHU012522 http://purl.bioontology.org/ontology/OMIM/MTHU036522 http://purl.bioontology.org/ontology/OMIM/MTHU005753 http://purl.bioontology.org/ontology/OMIM/MTHU037195 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
613875 |
|
| notation |
192600 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 |
|
| Scope Statement |
Caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (MYH7, 160760.0001) [MOLECULAR BASIS] Digenic form caused by heterozygous mutations in the MYLK2 (606566.0001 and 606566.0002) and MYH7 (160760.0007) genes [MISCELLANEOUS] |
|
| tui |
T047 |