MCID: HYP492
MIFTS: 6

Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation

Categories: Cardiovascular diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to...

MalaCards integrated aliases for Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation:

Name: Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation 60
Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mtdna Mutation 60

Characteristics:

Orphanet epidemiological data:

60
hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial dna mutation
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 I42.2
Orphanet 60 ORPHA324525

Summaries for Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to...

MalaCards based summary : Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation, is also known as hypertrophic cardiomyopathy and renal tubular disease due to mtdna mutation. An important gene associated with Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation is MT-TL1 (Mitochondrially Encoded TRNA-Leu (UUA/G) 1).

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GO Terms for Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to...

Sources for Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to...

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7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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33 HPO
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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