Online Mendelian Inheritance in Man - CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 - Classes

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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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/I42.1	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MESH/D024741	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D024741	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C566005	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C566005	Medical Subject Headings	LOOM