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Disease association ontology term - MONDO:0021179 - proteostasis deficiencies

Term summary

ID
MONDO:0021179
Name
proteostasis deficiencies
Ontology or CV name
Disease association
Definition
Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.

Parents

Annotation

Disease association

MONDO:0971004 - amyloidosis, hereditary systemic 1

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Genes:

MONDO:0007100 - familial amyloid neuropathy

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Genes:

MONDO:0010080 - familial infantile bilateral striatal necrosis

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Genes:

MONDO:0003122 - striatonigral degeneration

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Genes:

MONDO:0014889 - striatonigral degeneration, childhood-onset

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Genes:

MONDO:0010774 - striatonigral degeneration, infantile, mitochondrial

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Genes: