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cardiomyopathy and deafness due to tRNA lysine gene mutation

^ http://purl.obolibrary.org/obo/MONDO_0022648

A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms. [ GARD:0001108 ]

Term info

database cross reference
  • GARD:0001108 (MONDO:equivalentTo)
  • HGNC:7489 (MONDO:gene)
  • GTR:AN0103739 (UMLS:CN036924)
  • GTR:AN0103738 (UMLS:CN036924)
  • UMLS:CN036924 (MONDO:equivalentTo)
Subsets

gard_rare

definition

A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN036924

has exact synonym

cardiomyopathy and deafness due to tRNA lysine gene mutation

has related synonym

cardiomyopathy and deafness due to MTTK gene mutation

id

MONDO:0022648

seeAlso

https://rarediseases.info.nih.gov/diseases/1108/cardiomyopathy-and-deafness-due-to-trna-lysine-gene-mutation

Term relations