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Preferred Name

SALIH MYOPATHY
Synonyms

EOMFC
ID

http://purl.bioontology.org/ontology/OMIM/611705
altLabel

EOMFC

MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY

SALMY
cui

C2673677
Gene Locus

2q31
Gene Symbol

MPRM

LGMDR10

SALMY

TMD

HMERF

TTN

CMD1G
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU021643

http://purl.bioontology.org/ontology/OMIM/MTHU021645

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU000990

http://purl.bioontology.org/ontology/OMIM/MTHU002771

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU021646

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU021644

http://purl.bioontology.org/ontology/OMIM/MTHU021642

http://purl.bioontology.org/ontology/OMIM/MTHU052959

http://purl.bioontology.org/ontology/OMIM/MTHU020625

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

http://purl.bioontology.org/ontology/OMIM/MTHU020225

http://purl.bioontology.org/ontology/OMIM/MTHU001652
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

611705
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SALIH MYOPATHY
Scope Statement

Muscle involvement shows onset at birth or in infancy [MISCELLANEOUS]

Caused by mutation in the titin gene (TTN, 188840.0012) [MOLECULAR BASIS]

Sudden death due to cardiomyopathy [MISCELLANEOUS]

Cardiac involvement occurs between 5 and 12 years [MISCELLANEOUS]
tui

T047
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http://purl.bioontology.org/ontology/MESH/C567129 Medical Subject Headings / 医学主题词表 CUI