Online Mendelian Inheritance in Man - CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/115210 http://purl.bioontology.org/ontology/OMIM/115210
Preferred Name	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
Synonyms	RCM RCM1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RCM RCM1
prefLabel	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
Gene Symbol	TNNI3 CMH7 CMD2A RCM1 CMD1FF
Scope Statement	Caused by mutation in the cardiac troponin-1 gene (TNNI3, 191044.0005) [MOLECULAR BASIS] Sudden death may occur [MISCELLANEOUS] Intrafamilial variability, with some family members exhibiting hypertrophic cardiomyopathy [MISCELLANEOUS] Variable age of onset, from first decade to sixth decade of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU072363 http://purl.bioontology.org/ontology/OMIM/MTHU055745 http://purl.bioontology.org/ontology/OMIM/MTHU008097 http://purl.bioontology.org/ontology/OMIM/MTHU009472 http://purl.bioontology.org/ontology/OMIM/MTHU002870 http://purl.bioontology.org/ontology/OMIM/MTHU005271 http://purl.bioontology.org/ontology/OMIM/MTHU072360 http://purl.bioontology.org/ontology/OMIM/MTHU062217 http://purl.bioontology.org/ontology/OMIM/MTHU072362 http://purl.bioontology.org/ontology/OMIM/MTHU030163 http://purl.bioontology.org/ontology/OMIM/MTHU037132 http://purl.bioontology.org/ontology/OMIM/MTHU005009 http://purl.bioontology.org/ontology/OMIM/MTHU072361 http://purl.bioontology.org/ontology/OMIM/MTHU046471 See more See less
tui	T047
Gene Locus	19q13.4
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	115210
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1861861
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display