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Standards Ontologies Notations
dilated cardiomyopathy 1O

Summary
Synonym
  • CMD1O
  • dilated cardiomyopathy with ventricular tachycardia
Definition
A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1.
Super Class
dilated cardiomyopathy monogenic disease
Disease Ontology
DOID:0110451
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10060 ABCC9 ATP binding cassette subfamily C member 9
Displaying 1 entry
Gene ID Gene Symbol Description Source
20928 Abcc9 ATP-binding cassette, sub-family C member 9
Displaying 1 entry
Gene ID Gene Symbol Description Source
25560 Abcc9 ATP binding cassette subfamily C member 9
Displaying 1 entry
Gene ID Gene Symbol Description Source
850678 YBT1 bile acid-transporting ATPase YBT1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 12 in total
HPO ID HPO Term
HP:0001644 Dilated cardiomyopathy
HP:0003457 EMG abnormality
HP:0000969 Edema
HP:0012378 Fatigue
HP:0002875 Exertional dyspnea
HP:0000407 Sensorineural hearing impairment
HP:0011675 Arrhythmia
HP:0001727 Thromboembolic stroke
HP:0012764 Orthopnea
HP:0001635 Congestive heart failure
Displaying all 4 entries
Gene ID Gene Symbol Description
22845 DOLK dolichol kinase
2218 FKTN fukutin
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
70 ACTC1 actin alpha cardiac muscle 1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024