Online Mendelian Inheritance in Man

Last uploaded: April 29, 2019
Preferred Name

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1

Synonyms

HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

ID

http://purl.bioontology.org/ontology/OMIM/192600

altLabel

HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

CMH

VENTRICULAR HYPERTROPHY, HEREDITARY

CMH1

ASH

ASYMMETRIC SEPTAL HYPERTROPHY

cui

C3495498

C0700053

C0205700

C0949658

Gene Locus

20q13.3

Gene Symbol

MYLK2

MLCK

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU006088

http://purl.bioontology.org/ontology/OMIM/MTHU030403

http://purl.bioontology.org/ontology/OMIM/MTHU036522

http://purl.bioontology.org/ontology/OMIM/MTHU005753

http://purl.bioontology.org/ontology/OMIM/MTHU037196

http://purl.bioontology.org/ontology/OMIM/MTHU037194

http://purl.bioontology.org/ontology/OMIM/MTHU017461

http://purl.bioontology.org/ontology/OMIM/MTHU012522

http://purl.bioontology.org/ontology/OMIM/MTHU011222

http://purl.bioontology.org/ontology/OMIM/MTHU037195

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

192600

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1

tui

T019

T047

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