Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

DESMIN
Synonyms

DES

SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE

CARDIOMYOPATHY, DILATED, 1I

MYOPATHY, MYOFIBRILLAR, 1
ID

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

DES

SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE

CARDIOMYOPATHY, DILATED, 1I

MYOPATHY, MYOFIBRILLAR, 1
cui

C1413980

C1867005

C1832370

C1858154
Gene Locus

2q35
Gene Symbol

CMD1I

SCPNK

MFM1

DES
Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene with known sequence
notation

125660
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

DESMIN
tui

T047

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/1208615009 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/770627003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C565752 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1208615009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C566695 MESH CUI
http://purl.bioontology.org/ontology/MESH/C563319 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/770627003 SCTSPA CUI
http://www.limics.org/hrdo/rdfns#gen_id_15858 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_121053 ORDO LOOM
http://purl.obolibrary.org/obo/PR_000006427 EFO LOOM
http://purl.obolibrary.org/obo/PR_000006427 OBA LOOM
http://purl.obolibrary.org/obo/MESH_D003893 BERO LOOM
http://purl.org/obo/owl/GO#GO_0045100 BIOMODELS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96450 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3811 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003893 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_121053 ORDO LOOM
http://purl.jp/bio/4/id/200906020025104932 IOBC LOOM
http://www.ncbi.nlm.nih.gov/gene/13346 NIFSTD LOOM
http://purl.obolibrary.org/obo/GO_0045100 GO-EXT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00018815 PMAPP-PMO LOOM
http://purl.org/obo/owlapi/fma#FMA_67337 BIOMODELS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0011696 OCHV LOOM
http://purl.bioontology.org/ontology/SNMI/F-64016 SNMI LOOM
http://purl.obolibrary.org/obo/PR_000006427 PR LOOM
http://purl.obolibrary.org/obo/PR_000006427 NIFSTD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.220.475.200 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/LP14657-8 LOINC LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/83475004 SNOMEDCT LOOM
http://purl.org/sig/ont/fma/fma67337 FMA LOOM
http://purl.obolibrary.org/obo/NCIT_C96450 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D003893 MESH LOOM
http://id.nlm.nih.gov/mesh/D003893 MDM LOOM
http://localhost/plosthes.2017-1#6932 PLOSTHES LOOM
http://purl.obolibrary.org/obo/OMIT_0005169 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D05.750.078.593.200 RH-MESH LOOM