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Preferred Name

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
Synonyms

CMH9
ID

http://purl.bioontology.org/ontology/OMIM/613765
altLabel

CMH9
cui

C1861065
Gene Locus

2q31
Gene Symbol

MPRM

LGMDR10

SALMY

TMD

HMERF

TTN

CMD1G
Has manifestation

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

Phenotype description, molecular basis known.
notation

613765
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
Scope Statement

Based on report of 1 patient [MISCELLANEOUS]

Caused by mutation in the titin gene (TTN, 188840.0001) [MOLECULAR BASIS]
tui

T047
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http://purl.bioontology.org/ontology/MESH/C566044 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C566044 Medical Subject Headings / 医学主题词表 LOOM