Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
Synonyms

KING-DENBOROUGH SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/145600
altLabel

KING-DENBOROUGH SYNDROME

KING SYNDROME

MHS1

HYPERTHERMIA OF ANESTHESIA

HYPERPYREXIA, MALIGNANT

MHS

MH
cui

C0024591

C1840365
Gene Locus

19q13.1
Gene Symbol

CCO

MHS

RYR1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU017748

http://purl.bioontology.org/ontology/OMIM/MTHU036870

http://purl.bioontology.org/ontology/OMIM/MTHU017754

http://purl.bioontology.org/ontology/OMIM/MTHU017752

http://purl.bioontology.org/ontology/OMIM/MTHU013793

http://purl.bioontology.org/ontology/OMIM/MTHU004851

http://purl.bioontology.org/ontology/OMIM/MTHU017749

http://purl.bioontology.org/ontology/OMIM/MTHU004871

http://purl.bioontology.org/ontology/OMIM/MTHU015481

http://purl.bioontology.org/ontology/OMIM/MTHU036873

http://purl.bioontology.org/ontology/OMIM/MTHU017753

http://purl.bioontology.org/ontology/OMIM/MTHU036871

http://purl.bioontology.org/ontology/OMIM/MTHU017751

http://purl.bioontology.org/ontology/OMIM/MTHU017755

http://purl.bioontology.org/ontology/OMIM/MTHU005117

http://purl.bioontology.org/ontology/OMIM/MTHU027140

http://purl.bioontology.org/ontology/OMIM/MTHU001921

http://purl.bioontology.org/ontology/OMIM/MTHU036844

http://purl.bioontology.org/ontology/OMIM/MTHU008649
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

102990
notation

145600
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
tui

T047
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http://purl.bioontology.org/ontology/MESH/C536883 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/T88.3 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bmicc.cn/ontology/ICD10CN/T88.3 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10/T88.3 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/MESH/D008305 Medical Subject Headings CUI