Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

RYANODINE RECEPTOR 1

Synonyms

KING-DENBOROUGH SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/180901

altLabel

KING-DENBOROUGH SYNDROME

CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE

RYANODINE RECEPTOR, SKELETAL MUSCLE

SKRR

SKELETAL MUSCLE RYANODINE RECEPTOR

SARCOPLASMIC RETICULUM CALCIUM RELEASE CHANNEL

MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1

CENTRAL CORE DISEASE

RYR1

RYDR

NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER

cui

C0024591

C4016368

C1419778

C1850674

C0751951

C2674259

C1840365

Gene Locus

19q13.1

Gene Symbol

CCO

MHS

RYR1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/180901.0030

http://purl.bioontology.org/ontology/OMIM/180901.0032

http://purl.bioontology.org/ontology/OMIM/180901.0012

http://purl.bioontology.org/ontology/OMIM/180901.0037

http://purl.bioontology.org/ontology/OMIM/180901.0017

http://purl.bioontology.org/ontology/OMIM/180901.0033

http://purl.bioontology.org/ontology/OMIM/180901.0031

http://purl.bioontology.org/ontology/OMIM/180901.0013

http://purl.bioontology.org/ontology/OMIM/180901.0011

http://purl.bioontology.org/ontology/OMIM/180901.0004

http://purl.bioontology.org/ontology/OMIM/180901.0025

http://purl.bioontology.org/ontology/OMIM/180901.0024

http://purl.bioontology.org/ontology/OMIM/180901.0026

http://purl.bioontology.org/ontology/OMIM/180901.0038

http://purl.bioontology.org/ontology/OMIM/180901.0018

http://purl.bioontology.org/ontology/OMIM/180901.0039

http://purl.bioontology.org/ontology/OMIM/180901.0019

http://purl.bioontology.org/ontology/OMIM/180901.0005

http://purl.bioontology.org/ontology/OMIM/180901.0006

http://purl.bioontology.org/ontology/OMIM/180901.0010

http://purl.bioontology.org/ontology/OMIM/180901.0041

http://purl.bioontology.org/ontology/OMIM/180901.0002

http://purl.bioontology.org/ontology/OMIM/180901.0040

http://purl.bioontology.org/ontology/OMIM/180901.0021

http://purl.bioontology.org/ontology/OMIM/180901.0023

http://purl.bioontology.org/ontology/OMIM/180901.0022

http://purl.bioontology.org/ontology/OMIM/180901.0034

http://purl.bioontology.org/ontology/OMIM/180901.0014

http://purl.bioontology.org/ontology/OMIM/180901.0007

http://purl.bioontology.org/ontology/OMIM/180901.0015

http://purl.bioontology.org/ontology/OMIM/180901.0027

http://purl.bioontology.org/ontology/OMIM/180901.0003

http://purl.bioontology.org/ontology/OMIM/180901.0001

http://purl.bioontology.org/ontology/OMIM/180901.0028

http://purl.bioontology.org/ontology/OMIM/180901.0035

http://purl.bioontology.org/ontology/OMIM/180901.0036

http://purl.bioontology.org/ontology/OMIM/180901.0016

http://purl.bioontology.org/ontology/OMIM/180901.0008

http://purl.bioontology.org/ontology/OMIM/180901.0029

http://purl.bioontology.org/ontology/OMIM/180901.0009

MIMTYPEMEANING

Gene with known sequence

notation

180901

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

RYANODINE RECEPTOR 1

tui

T028

T033

T047

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