Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

CAVEOLIN 3

Synonyms

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C

ID

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

altLabel

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C

CAV3

RIPPLING MUSCLE DISEASE 2

LONG QT SYNDROME 2/9, DIGENIC

LONG QT SYNDROME 9

LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, AUTOSOMAL RECESSIVE

MYOPATHY, DISTAL, TATEYAMA TYPE

M-CAVEOLIN

RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE

CREATINE PHOSPHOKINASE, ELEVATED SERUM

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC

cui

C4016724

C0949658

C1413146

C3280443

C1832567

C1832560

C0241005

C2678485

C4016723

C3279093

Gene Locus

3p25

Gene Symbol

CAV3

LGMD1C

LQT9

Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MIMTYPEMEANING

Gene with known sequence

notation

601253

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

CAVEOLIN 3

tui

T028

T033

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C563362 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/PR_000005065 Protein Ontology LOOM
http://purl.bioontology.org/ontology/MESH/C535686 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D051244 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/MESH/C567515 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D024741 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP94500-3 Logical Observation Identifier Names and Codes CUI