Details of Disease

General Information of Disease (ID: DISTVJ3I)

Disease Name Combined oxidative phosphorylation deficiency 47
Synonyms COXPD47; COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DISTVJ3I: Combined oxidative phosphorylation deficiency 47
Disease Identifiers
MONDO ID
MONDO_0033537
UMLS CUI
C5436476
OMIM ID
618958
MedGen ID
1775535

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MRPS28 OT8CLJ6M Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.