Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Jump to:
Spinner 000000 16px loading...
Preferred Name

DESMIN
Synonyms

CARDIOMYOPATHY, DILATED, 1I (1 family)
ID

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

CARDIOMYOPATHY, DILATED, 1I (1 family)

DES

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R (1 family)

SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE

MYOPATHY, MYOFIBRILLAR, 1
cui

C1413980

C1867005

C4016016

C1832370

C4016015
Gene Locus

2q35
Gene Symbol

ARVC7

MFM1

LGMD2R

ARVD7

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/125660.0001

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

T033

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/FMA_67337 Foundational Model of Anatomy LOOM
http://purl.bioontology.org/ontology/MESH/C563319 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP14657-8 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/MESH/D003893 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/PR_000006427 Protein Ontology LOOM
http://purl.bmicc.cn/ontology/CLO_SCN/CLO_0053451 Cell Line Ontology (Chinese Translation) LOOM
http://purl.bioontology.org/ontology/MESH/C566695 Medical Subject Headings CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C96450 National Cancer Institute Thesaurus LOOM