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Disease association ontology term - MONDO:0000066 - mitochondrial respiratory chain complex deficiency

Term summary

ID
MONDO:0000066
Name
mitochondrial respiratory chain complex deficiency
Ontology or CV name
Disease association
Definition
A mitochondrial energy metabolism disorder where respiratory complex (I–V) is dysfunctional, typically due to mutations in genes encoding that specific complex’s proteins or assembly factors.

Parents

Annotation

Disease association

MONDO:0980970 - mitochondrial complex 4 deficiency, nuclear type 25

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Genes:

MONDO:0032617 - mitochondrial complex I deficiency, nuclear type 11

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MONDO:0032626 - mitochondrial complex I deficiency, nuclear type 22

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MONDO:0032630 - mitochondrial complex I deficiency, nuclear type 26

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MONDO:0032631 - mitochondrial complex I deficiency, nuclear type 27

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MONDO:0032609 - mitochondrial complex I deficiency, nuclear type 4

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MONDO:0032612 - mitochondrial complex I deficiency, nuclear type 7

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MONDO:0015448 - mitochondrial complex III deficiency

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MONDO:0007415 - mitochondrial complex III deficiency nuclear type 1

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MONDO:0014063 - mitochondrial complex III deficiency nuclear type 2

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MONDO:0014064 - mitochondrial complex III deficiency nuclear type 3

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MONDO:0014065 - mitochondrial complex III deficiency nuclear type 4

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MONDO:0014066 - mitochondrial complex III deficiency nuclear type 5

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MONDO:0014194 - mitochondrial complex III deficiency nuclear type 6

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MONDO:0014356 - mitochondrial complex III deficiency nuclear type 7

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MONDO:0014364 - mitochondrial complex III deficiency nuclear type 8

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MONDO:0014496 - mitochondrial complex III deficiency nuclear type 9

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MONDO:0032909 - mitochondrial complex III deficiency, nuclear type 10

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MONDO:0859321 - mitochondrial complex III deficiency, nuclear type 11

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MONDO:0700250 - mitochondrial complex IV deficiency, nuclear type 1

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Genes:

MONDO:0033639 - mitochondrial complex IV deficiency, nuclear type 10

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Genes:

MONDO:0033645 - mitochondrial complex IV deficiency, nuclear type 11

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MONDO:0033649 - mitochondrial complex IV deficiency, nuclear type 14

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MONDO:0033651 - mitochondrial complex IV deficiency, nuclear type 16

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MONDO:0033653 - mitochondrial complex IV deficiency, nuclear type 18

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MONDO:0033654 - mitochondrial complex IV deficiency, nuclear type 19

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MONDO:0033655 - mitochondrial complex IV deficiency, nuclear type 20

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MONDO:0033656 - mitochondrial complex IV deficiency, nuclear type 21

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MONDO:0859160 - mitochondrial complex IV deficiency, nuclear type 22

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MONDO:0859520 - mitochondrial complex IV deficiency, nuclear type 23

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MONDO:0033635 - mitochondrial complex IV deficiency, nuclear type 3

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MONDO:0033636 - mitochondrial complex IV deficiency, nuclear type 4

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MONDO:0033637 - mitochondrial complex IV deficiency, nuclear type 7

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MONDO:0033638 - mitochondrial complex IV deficiency, nuclear type 8

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MONDO:0011421 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

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Genes:

MONDO:0013546 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

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MONDO:0014091 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B

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Genes:

MONDO:0020858 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 5

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MONDO:0012992 - pancreatic insufficiency-anemia-hyperostosis syndrome

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Genes: