Details of Disease

General Information of Disease (ID: DISAW6AL)

Disease Name Combined oxidative phosphorylation defect type 17
Synonyms
combined oxidative phosphorylation deficiency 17; combined oxidative phosphorylation deficiency caused by mutation in ELAC2; combined oxidative phosphorylation deficiency type 17; ELAC2 combined oxidative phosphorylation deficiency; COXPD17
Definition Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DISAW6AL: Combined oxidative phosphorylation defect type 17
Disease Identifiers
MONDO ID
MONDO_0014190
UMLS CUI
C3809526
OMIM ID
615440
MedGen ID
815856
Orphanet ID
369913
SNOMED CT ID
775908005

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
ELAC2 OTY3BOF6 Strong Autosomal recessive [1]
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References

1 HIV-positive women: reasons they are tested for HIV and their clinical characteristics on entry into the health care system. J Gen Intern Med. 1991 Jul-Aug;6(4):286-9. doi: 10.1007/BF02597422.