Details of Disease

General Information of Disease (ID: DIS4H0ZZ)

Disease Name Combined oxidative phosphorylation deficiency 34
Synonyms
COXPD34; combined oxidative phosphorylation deficiency 34; syndromic sensorineural deafness due to combined oxidative phosphorylation defect; syndromic sensorineural deafness due to COXPD; syndromic sensorineural hearing loss due to COXPD
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DIS4H0ZZ: Combined oxidative phosphorylation deficiency 34
Disease Identifiers
MONDO ID
MONDO_0054741
UMLS CUI
C4693450
OMIM ID
617872
MedGen ID
1631307
SNOMED CT ID
1260133007

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
MRPS7 OT57AX7G Limited Unknown [1]
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References

1 Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2.