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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Metabolic Diseases (D008659)
..Starting node ..Proteostasis Deficiencies (D057165)
Child Nodes:
........Amyloidosis (D000686) 21
........TDP-43 Proteinopathies (D057177) 32
Sister Nodes:
..Acid-Base Imbalance (D000137) 42
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..Brain Diseases, Metabolic (D001928) 244
..Calcium Metabolism Disorders (D002128) 94
..DNA Repair-Deficiency Disorders (D049914) 95
..Glucose Metabolism Disorders (D044882) 137
..Hyperlactatemia (D065906)
..Hypermanganesemia with Dystonia Polycythemia and Cirrhosis (C548016)
..Iron Metabolism Disorders (D019189) 23
..Lipid Metabolism Disorders (D052439) 189
..Malabsorption Syndromes (D008286) 29
..Metabolic Syndrome X (D024821) 1
..Metabolism, Inborn Errors (D008661) 886
..Mitochondrial Diseases (D028361) 114
..Phosphorus Metabolism Disorders (D010760) 25
..Porphyrias (D011164) 18
..Proteostasis Deficiencies (D057165) 55
..SHORT syndrome (C537327)
..Skin Diseases, Metabolic (D012875) 33
..Wasting Syndrome (D019282) 1
..Water-Electrolyte Imbalance (D014883) 31
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9381
Name:	Proteostasis Deficiencies
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.
Alternative IDs:
ParentIDs:	MESH:D008659
TreeNumbers:	C18.452.845
Synonyms:	Deficiencies, Proteostasis \|Deficiency, Proteostasis \|Disease, Protein Folding \|Disease, Protein Misfolding \|Diseases, Protein Folding \|Diseases, Protein Misfolding \|Disorder, Protein Folding \|Disorder, Protein Misfolding \|Disorders, Protein Folding \|Disorders, P
Slim Mappings:	Metabolic disease
Reference:	MedGen: D057165 MeSH: D057165 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants