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Term:
metabolic disease
(EFO:0000589)
Annotations:
Rat: (0)
Mouse: (0)
Human: (17221)
Chinchilla: (0)
Bonobo: (0)
Dog: (0)
Squirrel: (0)
Pig: (0)
Naked Mole-rat: (0)
Green Monkey: (0)
Parent Terms
Term With Siblings
Child Terms
disease
+
acute disease
+
animal disease
+
breast disease
+
cancer or benign tumor
+
cardiovascular disease
+
chromosomal disorder
+
chronic disease
+
complication
+
connective tissue disease
+
digestive system disease
+
disease related to transplantation
+
disorder of development or morphogenesis
+
disorder of visual system
+
endocrine system disease
+
genetic disorder
+
head and neck disorder
+
hematologic disease
+
iatrogenic disease
+
idiopathic disease
+
immune system disease
+
infectious disease
+
inflammatory disease
+
integumentary system disease
+
metabolic disease
+
A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.
mitochondrial disease
+
musculoskeletal system disease
+
nervous system disease
+
obstetric disorder
+
occupational disorder
+
otorhinolaryngologic disease
+
perinatal disease
+
perineum disease
poisoning
+
post-infectious disorder
+
premature aging syndrome
+
psychiatric disorder
+
radiation-induced disorder
+
reproductive system disease
+
respiratory system disease
+
soft tissue disease
sudden infant death syndrome
+
syndromic disease
+
ulcer disease
+
upper digestive tract disorder
+
urinary system disease
+
urogenital neoplasm
+
acquired metabolic disease
+
ALG13-CDG
amino acid metabolism disease
+
amino-acid transport disorder
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Autosomal dominant primary hypomagnesemia with hypocalciuria
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
bilirubin metabolism disease
+
carbohydrate metabolism disease
+
chondrocalcinosis
+
CHST3-related skeletal dysplasia
Chédiak-Higashi syndrome
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Congenital atransferrinemia
Congenital dyserythropoietic anemia type II
Congenital muscular dystrophy, Fukuyama type
developmental anomaly of metabolic origin
+
diabetic nephropathy
+
diabetic retinopathy
+
disorder of acid-base balance
+
Disorder of amino acid and other organic acid metabolism
+
Disorder of biogenic amine metabolism and transport
+
Disorder of carbohydrate metabolism
+
Disorder of energy metabolism
+
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
+
disorder of glycosylation
+
Disorder of lipid metabolism
+
disorder of organic acid metabolism
+
Disorder of porphyrin and haem metabolism
+
Disorder of purine or pyrimidine metabolism
+
Disorder of vitamin and non-protein cofactor absorption and transport
+
Distal myopathy, Nonaka type
dopa-responsive dystonia
+
DPM1-CDG
Ehlers-Danlos syndrome, progeroid type
FTH1-related iron overload
glucose metabolism disease
+
glutaric aciduria
+
gout
+
hemochromatosis
hepatic methionine adenosyltransferase deficiency
hyperamylasemia
hyperlipidemia
+
hyperlipoproteinemia
+
hyperprolactinemia
+
Hypertriglyceridemia
+
hypoalphalipoproteinemia
+
inborn errors of metabolism
+
lactic acidosis
+
lipodystrophy
+
Lysosomal disease
+
metabolic syndrome
metabolic toxicity
methylmalonic aciduria (cobalamin deficiency) cblA type
mineral metabolism disease
+
muscular dystrophy, congenital, with cataracts and intellectual disability
nutritional disorder
+
Other metabolic disease
+
Papillon-Lefèvre syndrome
Peroxisomal beta-oxidation disorder
+
peroxisome biogenesis disorder, complementation group 7
Peroxisome biogenesis disorder-Zellweger syndrome spectrum
+
porphyrin metabolism disease
+
Primary hypomagnesemia with secondary hypocalcemia
proteostasis deficiencies
+
purine metabolism disease
+
pyrimidine metabolism disease
+
Rare hereditary hemochromatosis
Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
Refsum disease
steroid dehydrogenase deficiency-dental anomalies syndrome
steroid metabolism disease
+
Tumor Lysis Syndrome
x-linked warfarin sensitivity
xanthinuria
+
xanthoma
Synonyms
Exact Synonyms:
DIS METAB ;
DOID:0014667
; Disorder of metabolism NOS ; Disorder of metabolism NOS (disorder) ; Generalised metabolic disorder ; Generalized metabolic disorder ; Generalized metabolic disorder (disorder) ; MD - Metabolic disorders ; METABOLISM DISORDER NOS ; Metabolic Diseases
Related Synonyms:
disease of metabolism
Xrefs:
DOID:0014667
; HP:0001939 ;
ICD10CM:E70-E88
; ICD10WHO:E70-E90 ; ICD9:277.8 ; ICD9:277.9 ; MEDGEN:44376 ;
MESH:D008659
;
MONDO:0005066
; NANDO:1100002
External Ontologys:
in_taxon EFO:NCBITaxon:9606
Definition Sources:
NCIT:C3235