Abnormality of mitochondrial metabolism (Phenotype)

Synonyms:Mitochondrial dysfunction

Id:HP:0003287

Description:A functional anomaly of mitochondria.

Results found

Linked to

	Label	Description
	CTNS Gene (Entity type)	cystinosin, lysosomal cystine transporter
	MT-CO1 Gene (Entity type)	mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:HGNC:7419]
	AFG3L2 Gene (Entity type)	AFG3 like matrix AAA peptidase subunit 2
	GYG2 Gene (Entity type)	glycogenin 2
	FAM222A Gene (Entity type)	family with sequence similarity 222 member A
	OSCAR Gene (Entity type)	osteoclast associated Ig-like receptor [Source:HGNC Symbol;Acc:HGNC:29960]
	GPR87 Gene (Entity type)	G protein-coupled receptor 87
	ELAC2 Gene (Entity type)	elaC ribonuclease Z 2
	CHCHD10 Gene (Entity type)	coiled-coil-helix-coiled-coil-helix domain containing 10 [Source:HGNC Symbol;Acc:HGNC:15559]
	PDHB Gene (Entity type)	pyruvate dehydrogenase E1 subunit beta

CTNS

Gene (Entity type)

cystinosin, lysosomal cystine transporter

MT-CO1

Gene (Entity type)

mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:HGNC:7419]

AFG3L2

Gene (Entity type)

AFG3 like matrix AAA peptidase subunit 2

GYG2

Gene (Entity type)

glycogenin 2

FAM222A

Gene (Entity type)

family with sequence similarity 222 member A

OSCAR

Gene (Entity type)

osteoclast associated Ig-like receptor [Source:HGNC Symbol;Acc:HGNC:29960]

GPR87

Gene (Entity type)

G protein-coupled receptor 87

ELAC2

Gene (Entity type)

elaC ribonuclease Z 2

CHCHD10

Gene (Entity type)

coiled-coil-helix-coiled-coil-helix domain containing 10 [Source:HGNC Symbol;Acc:HGNC:15559]

PDHB

Gene (Entity type)

pyruvate dehydrogenase E1 subunit beta

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@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.