Details of Disease | DrugMAP

General Information of Disease (ID: DIS2OXH6)

Disease Name	Multiple mitochondrial dysfunctions syndrome 5
Synonyms	MMDS5; multiple mitochondrial dysfunctions syndrome 5
Disease Hierarchy	DISYBW5F: Fatal multiple mitochondrial dysfunctions syndrome DIS2OXH6: Multiple mitochondrial dysfunctions syndrome 5
Disease Identifiers	MONDO ID MONDO_0033282 UMLS CUI C4539919 OMIM ID 617613 MedGen ID 1623132 Orphanet ID 569274 SNOMED CT ID 1279890001

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
ISCA1	OTU230MC	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.