Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

CAVEOLIN 3
Synonyms

LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO

RIPPLING MUSCLE DISEASE 2

LONG QT SYNDROME 9

M-CAVEOLIN

CAV3

LONG QT SYNDROME 2/9, DIGENIC

RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC

MYOPATHY, DISTAL, TATEYAMA TYPE

CREATINE PHOSPHOKINASE, ELEVATED SERUM
ID

http://purl.bioontology.org/ontology/OMIM/601253
altLabel

LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO

RIPPLING MUSCLE DISEASE 2

LONG QT SYNDROME 9

M-CAVEOLIN

CAV3

LONG QT SYNDROME 2/9, DIGENIC

RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC

MYOPATHY, DISTAL, TATEYAMA TYPE

CREATINE PHOSPHOKINASE, ELEVATED SERUM
cui

C4016724

C0949658

C0241005

C3280443

C2678485

C1413146

C1832560
Gene Locus

3p25
Gene Symbol

CAV3

LQT9

MPDT

RMD2
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/601253.0005

http://purl.bioontology.org/ontology/OMIM/601253.0006

http://purl.bioontology.org/ontology/OMIM/601253.0002

http://purl.bioontology.org/ontology/OMIM/601253.0009

http://purl.bioontology.org/ontology/OMIM/601253.0003

http://purl.bioontology.org/ontology/OMIM/601253.0008

http://purl.bioontology.org/ontology/OMIM/601253.0001

http://purl.bioontology.org/ontology/OMIM/601253.0007

http://purl.bioontology.org/ontology/OMIM/601253.0004

http://purl.bioontology.org/ontology/OMIM/601253.0021

http://purl.bioontology.org/ontology/OMIM/601253.0020

http://purl.bioontology.org/ontology/OMIM/601253.0019

http://purl.bioontology.org/ontology/OMIM/601253.0016

http://purl.bioontology.org/ontology/OMIM/601253.0014

http://purl.bioontology.org/ontology/OMIM/601253.0018

http://purl.bioontology.org/ontology/OMIM/601253.0015

http://purl.bioontology.org/ontology/OMIM/601253.0013

http://purl.bioontology.org/ontology/OMIM/601253.0012

http://purl.bioontology.org/ontology/OMIM/601253.0011

http://purl.bioontology.org/ontology/OMIM/601253.0017

http://purl.bioontology.org/ontology/OMIM/601253.0010
MIMTYPEMEANING

Gene with known sequence
notation

601253
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

CAVEOLIN 3
tui

T047

T033

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNMI/D3-23120 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10034937 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/711265009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C567515 MESH CUI
http://purl.bioontology.org/ontology/LNC/LP94500-3 LOINC CUI
http://purl.bioontology.org/ontology/MESH/C535686 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/83978005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000011119 NDFRT CUI
http://purl.bioontology.org/ontology/SCTSPA/83978005 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D024741 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D024741 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10035269 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10040224 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10056732 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10034937 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10040224 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10056732 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10040224 MEDDRA CUI
http://purl.bioontology.org/ontology/CST/CREATINE%20PK%20INC COSTART CUI
http://purl.bioontology.org/ontology/MDRGER/10035269 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10056732 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10034937 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10035269 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/711265009 SCTSPA CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192756 NCIT LOOM
http://www.orpha.net/ORDO/Orphanet_119194 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D051244 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15403 HRDO LOOM
http://purl.obolibrary.org/obo/PR_000005065 PR LOOM
http://purl.obolibrary.org/obo/PR_000005065 CCONT LOOM
http://purl.obolibrary.org/obo/PR_000005065 EFO LOOM
http://purl.obolibrary.org/obo/PR_000005065 EFO LOOM
http://purl.obolibrary.org/obo/PR_000005065 NIFSTD LOOM
http://purl.obolibrary.org/obo/PR_000005065 OBA LOOM
http://id.nlm.nih.gov/mesh/D051244 MDM LOOM
http://purl.obolibrary.org/obo/IMR_0001649 HOIP LOOM
http://purl.obolibrary.org/obo/IMR_0001649 TXPO LOOM
http://purl.obolibrary.org/obo/MESH_D051244 BERO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00022568 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/OMIT_0024746 OMIT LOOM
http://purl.jp/bio/4/id/200906063093305980 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.543.990.100.875 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D051244 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.210.500.235 RH-MESH LOOM