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Disease association ontology term - MONDO:0033885 - mitochondrial complex IV deficiency, nuclear-type

Term summary

ID
MONDO:0033885
Name
mitochondrial complex IV deficiency, nuclear-type
Ontology or CV name
Disease association
Definition
A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.

Parents

Annotation

Disease association

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

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

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

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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:0012992 - pancreatic insufficiency-anemia-hyperostosis syndrome

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