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Preferred Name

DYSFERLIN
Synonyms

MIYOSHI MUSCULAR DYSTROPHY 1
ID

http://purl.bioontology.org/ontology/OMIM/603009
altLabel

MIYOSHI MUSCULAR DYSTROPHY 1

MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET

DYSF

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2
cui

C1847532

C4551973

C1414209

C1850889
Gene Locus

2p13.3-p13.1
Gene Symbol

MMD1

DYSF

LGMDR2
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/603009.0017

http://purl.bioontology.org/ontology/OMIM/603009.0009

http://purl.bioontology.org/ontology/OMIM/603009.0011

http://purl.bioontology.org/ontology/OMIM/603009.0001

http://purl.bioontology.org/ontology/OMIM/603009.0020

http://purl.bioontology.org/ontology/OMIM/603009.0013

http://purl.bioontology.org/ontology/OMIM/603009.0012

http://purl.bioontology.org/ontology/OMIM/603009.0014

http://purl.bioontology.org/ontology/OMIM/603009.0006

http://purl.bioontology.org/ontology/OMIM/603009.0007

http://purl.bioontology.org/ontology/OMIM/603009.0005

http://purl.bioontology.org/ontology/OMIM/603009.0019

http://purl.bioontology.org/ontology/OMIM/603009.0018

http://purl.bioontology.org/ontology/OMIM/603009.0021

http://purl.bioontology.org/ontology/OMIM/603009.0022

http://purl.bioontology.org/ontology/OMIM/603009.0002

http://purl.bioontology.org/ontology/OMIM/603009.0003

http://purl.bioontology.org/ontology/OMIM/603009.0010

http://purl.bioontology.org/ontology/OMIM/603009.0016

http://purl.bioontology.org/ontology/OMIM/603009.0008

http://purl.bioontology.org/ontology/OMIM/603009.0004

http://purl.bioontology.org/ontology/OMIM/603009.0015
MIMTYPEMEANING

Gene with known sequence
notation

603009
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

DYSFERLIN
tui

T028

T047
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http://purl.bioontology.org/ontology/LNC/LP71419-3 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94679 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/ICD10CM/G71.033 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.obolibrary.org/obo/PR_000006786 Protein Ontology / 蛋白质本体 LOOM
http://purl.bioontology.org/ontology/MESH/C537480 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C564664 Medical Subject Headings / 医学主题词表 CUI
http://purl.bmicc.cn/ontology/HPCH/HP_0030113 中国人类表型本体 / Human Phenotype Ontology China LOOM
http://purl.bioontology.org/ontology/MESH/C535899 Medical Subject Headings / 医学主题词表 CUI
http://purl.bmicc.cn/ontology/HPCH/HP_0030114 中国人类表型本体 / Human Phenotype Ontology China LOOM
http://www.orpha.net/ORDO/Orphanet_121246 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D000073939 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bmicc.cn/ontology/HPCH/HP_0030115 中国人类表型本体 / Human Phenotype Ontology China LOOM
http://purl.bioontology.org/ontology/LNC/LP33051-1 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/LNC/MTHU015704 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM