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Preferred Name

CARDIOMYOPATHY, DILATED, 1G
Synonyms

CMD1G
ID

http://purl.bioontology.org/ontology/OMIM/604145
altLabel

CMD1G
cui

C1858763
Gene Locus

2q31
Gene Symbol

MPRM

LGMDR10

SALMY

TMD

HMERF

TTN

CMD1G
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU033166

http://purl.bioontology.org/ontology/OMIM/MTHU036516

http://purl.bioontology.org/ontology/OMIM/MTHU074832

http://purl.bioontology.org/ontology/OMIM/MTHU074835

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

http://purl.bioontology.org/ontology/OMIM/MTHU065639

http://purl.bioontology.org/ontology/OMIM/MTHU050759

http://purl.bioontology.org/ontology/OMIM/MTHU074834

http://purl.bioontology.org/ontology/OMIM/MTHU063246

http://purl.bioontology.org/ontology/OMIM/MTHU030163

http://purl.bioontology.org/ontology/OMIM/MTHU063902

http://purl.bioontology.org/ontology/OMIM/MTHU067528

http://purl.bioontology.org/ontology/OMIM/MTHU006249

http://purl.bioontology.org/ontology/OMIM/MTHU074833

http://purl.bioontology.org/ontology/OMIM/MTHU074836

http://purl.bioontology.org/ontology/OMIM/MTHU002129

http://purl.bioontology.org/ontology/OMIM/MTHU042669

http://purl.bioontology.org/ontology/OMIM/MTHU037132
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

604145
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CARDIOMYOPATHY, DILATED, 1G
Scope Statement

Caused by mutation in the titin gene (TTN, 188840.0002) [MOLECULAR BASIS]

Early-onset cardiomyopathy (first decade of life) [MISCELLANEOUS]

Rapidly progressive course [MISCELLANEOUS]

Premature death may occur due to severe congestive heart failure [MISCELLANEOUS]
tui

T047
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http://purl.bioontology.org/ontology/MESH/C565824 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C565824 Medical Subject Headings / 医学主题词表 LOOM