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Preferred Name

DESMIN
Synonyms

CARDIOMYOPATHY, DILATED, 1I
ID

http://purl.bioontology.org/ontology/OMIM/125660
altLabel

CARDIOMYOPATHY, DILATED, 1I

DES

SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE

MYOPATHY, MYOFIBRILLAR, 1
cui

C1413980

C1867005

C1858154

C1832370
Gene Locus

2q35
Gene Symbol

MFM1

DES

CMD1I

SCPNK
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/125660.0003

http://purl.bioontology.org/ontology/OMIM/125660.0004

http://purl.bioontology.org/ontology/OMIM/125660.0015

http://purl.bioontology.org/ontology/OMIM/125660.0016

http://purl.bioontology.org/ontology/OMIM/125660.0017

http://purl.bioontology.org/ontology/OMIM/125660.0009

http://purl.bioontology.org/ontology/OMIM/125660.0005

http://purl.bioontology.org/ontology/OMIM/125660.0018

http://purl.bioontology.org/ontology/OMIM/125660.0021

http://purl.bioontology.org/ontology/OMIM/125660.0001

http://purl.bioontology.org/ontology/OMIM/125660.0012

http://purl.bioontology.org/ontology/OMIM/125660.0006

http://purl.bioontology.org/ontology/OMIM/125660.0020

http://purl.bioontology.org/ontology/OMIM/125660.0014

http://purl.bioontology.org/ontology/OMIM/125660.0013

http://purl.bioontology.org/ontology/OMIM/125660.0007

http://purl.bioontology.org/ontology/OMIM/125660.0008

http://purl.bioontology.org/ontology/OMIM/125660.0019

http://purl.bioontology.org/ontology/OMIM/125660.0002

http://purl.bioontology.org/ontology/OMIM/125660.0010

http://purl.bioontology.org/ontology/OMIM/125660.0011
MIMTYPEMEANING

Gene with known sequence
notation

125660
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

DESMIN
tui

T028

T047
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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_121053 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C563319 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LP14657-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/MESH/C565752 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D003893 Medical Subject Headings / 医学主题词表 LOOM
http://purl.org/sig/ont/fma/fma67337 Foundational Model of Anatomy / 解剖学基础模型本体 LOOM
http://purl.obolibrary.org/obo/PR_000006427 Protein Ontology / 蛋白质本体 LOOM
http://purl.obolibrary.org/obo/PR_000006427 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bmicc.cn/ontology/CLO_SCN/CLO_0053451 细胞系本体（中文翻译） / Cell Line Ontology (Chinese Translation) LOOM
http://purl.bioontology.org/ontology/MESH/C566695 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96450 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM