FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term disease of metabolism ID (Ontology) DOID:0014667 (Human Disease)
Definition A disease that involves errors in metabolic processes of building or degradation of molecules.
Also Known As "metabolic disease"
Comment
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DO.org
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Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       6
Human Disease Models (FBhh)  DOID       3
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 Alleles Genes Human Disease Models
 disease of metabolism       6      8      3
 model of | disease of metabolism       6       --       --
Spanning Tree (Parents/Children)
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  disease
   |__disease of metabolism  2078 rec.
       |__acquired metabolic disease 246 rec.
       |   |__auto-brewery syndrome
       |   |__bladder fermentation syndrome
       |   |__carotenemia 1 rec.
       |   |__hyperprolactinemia
       |   |__hyperuricemia(+) 13 rec.
       |   |__metabolic acidosis(+) 1 rec.
       |   |__mineral metabolism disease(+) 19 rec.
       |   |__nutrition disease(+) 202 rec.
       |__amyloidosis 61 rec.
       |   |__apolipoprotein A-IV associated amyloidosis
       |   |__cerebral amyloid angiopathy(+) 11 rec.
       |   |__dialysis-related amyloidosis
       |   |__familial visceral amyloidosis 4 rec.
       |   |__immunoglobulin heavy chain amyloidosis
       |   |__immunoglobulin heavy-and-light chain
       |   |__immunoglobulin light chain amyloidosis
       |   |__primary cutaneous amyloidosis(+) 2 rec.
       |   |__serum amyloid A amyloidosis
       |   |__transthyretin amyloidosis 24 rec.
       |   |__variant ABeta2M amyloidosis
       |   |__wild-type amyloidosis
       |__inherited metabolic disorder 1849 rec.
           |__aceruloplasminemia 4 rec.
           |__amino acid metabolic disorder(+) 232 rec.
           |__aromatic L-amino acid decarboxylase deficiency 4 rec.
           |__bilirubin metabolic disorder(+) 25 rec.
           |__carbohydrate metabolic disorder(+) 471 rec.
           |__cerebral amyloid angiopathy(+) 11 rec.
           |__D-glyceric aciduria 1 rec.
           |__dopamine beta-hydroxylase deficiency 1 rec.
           |__familial hypocalciuric hypercalcemia(+) 2 rec.
           |__familial visceral amyloidosis 4 rec.
           |__glycerol kinase deficiency 6 rec.
           |__Gordon Holmes syndrome 5 rec.
           |__Greenberg dysplasia 1 rec.
           |__HRPT-related hyperuricemia
           |__hyperphosphatemic familial tumoral calcinosis 2 rec.
           |__immunoglobulin light chain amyloidosis
           |__infantile hypercalcemia 1 11 rec.
           |__infantile hypercalcemia 2
           |__isolated elevated serum creatine phosphokinase levels
           |__isolated sulfite oxidase deficiency 3 rec.
           |__lipid metabolism disorder(+) 108 rec.
           |__lysosomal storage disease(+) 290 rec.
           |__metal metabolism disorder(+) 64 rec.
           |__mitochondrial metabolism disease(+) 490 rec.
           |__multiple acyl-CoA dehydrogenase deficiency 8 rec.
           |__peroxisomal disease(+) 79 rec.
           |__phosphoribosylpyrophosphate synthetase superactivity 1 rec.
           |__plasma protein metabolism disease(+) 9 rec.
           |__poor metabolism of thiopurines(+)
           |__porphyria(+) 27 rec.
           |__primary cutaneous amyloidosis(+) 2 rec.
           |__purine-pyrimidine metabolic disorder(+) 26 rec.
           |__pyrimidine metabolic disorder(+) 3 rec.
           |__transthyretin amyloidosis 24 rec.
           |__trimethylaminuria 2 rec.
           |__variant ABeta2M amyloidosis
           |__vitamin metabolic disorder(+) 32 rec.
           |__warfarin resistance 3 rec.
           |__warfarin sensitivity
           |__X-linked warfarin sensitivity 1 rec.
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Synonyms
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Secondary IDs
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ICD10CM:E88.9
ICD9CM:277.9
MESH:D008659
NCI:C3235
SNOMEDCT_US_2023_03_01:75934005
UMLS_CUI:C0025517