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Preferred Name

TITIN
Synonyms

SALIH MYOPATHY
ID

http://purl.bioontology.org/ontology/OMIM/188840
altLabel

SALIH MYOPATHY

MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE

TIBIAL MUSCULAR DYSTROPHY, TARDIVE

CARDIOMYOPATHY, DILATED, 1G

TTN

CONNECTIN

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
cui

C1421222

C1863599

C1861065

C2673677

C1837342

C1858763

C1838244
Gene Locus

2q31
Gene Symbol

MPRM

LGMDR10

SALMY

TMD

HMERF

TTN

CMD1G
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/188840.0011

http://purl.bioontology.org/ontology/OMIM/188840.0012

http://purl.bioontology.org/ontology/OMIM/188840.0003

http://purl.bioontology.org/ontology/OMIM/188840.0006

http://purl.bioontology.org/ontology/OMIM/188840.0004

http://purl.bioontology.org/ontology/OMIM/188840.0005

http://purl.bioontology.org/ontology/OMIM/188840.0016

http://purl.bioontology.org/ontology/OMIM/188840.0017

http://purl.bioontology.org/ontology/OMIM/188840.0018

http://purl.bioontology.org/ontology/OMIM/188840.0019

http://purl.bioontology.org/ontology/OMIM/188840.0001

http://purl.bioontology.org/ontology/OMIM/188840.0002

http://purl.bioontology.org/ontology/OMIM/188840.0015

http://purl.bioontology.org/ontology/OMIM/188840.0013

http://purl.bioontology.org/ontology/OMIM/188840.0014

http://purl.bioontology.org/ontology/OMIM/188840.0007

http://purl.bioontology.org/ontology/OMIM/188840.0008

http://purl.bioontology.org/ontology/OMIM/188840.0010

http://purl.bioontology.org/ontology/OMIM/188840.0009
MIMTYPEMEANING

Gene with known sequence
notation

188840
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

TITIN
tui

T028

T047
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http://purl.bioontology.org/ontology/MESH/C566044 Medical Subject Headings / 医学主题词表 CUI
http://purl.org/sig/ont/fma/fma62377 Foundational Model of Anatomy / 解剖学基础模型本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101758 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/MESH/C567129 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D049310 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LP220407-3 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.obolibrary.org/obo/PR_000016798 Protein Ontology / 蛋白质本体 LOOM
http://purl.obolibrary.org/obo/PR_000016798 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/C563854 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C566343 Medical Subject Headings / 医学主题词表 CUI
http://www.orpha.net/ORDO/Orphanet_120326 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C565824 Medical Subject Headings / 医学主题词表 CUI