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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS
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Term:
metabolic disease
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Accession:
EFO:0000589
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Definition:
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.
Synonyms:
exact_synonym:
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; Metabolic Disorder; Metabolic disease (disorder); Metabolic disease, NOS; Metabolic disorder, NOS; Metabolic disorders; NCIT:C3235; Thesaurismoses; Thesaurismosis; Unspecified disorder of metabolism; disorder of metabolic process; http://identifiers.org/medgen/44376; http://identifiers.org/mesh/D008659; http://identifiers.org/snomedct/75934005; http://linkedlifedata.com/resource/umls/id/C0025517; http://purl.bioontology.org/ontology/ICD10CM/E70-E88; https://icd.who.int/browse10/2019/en#/E70-E90; metabolic process disease; metabolism disorder
related_synonym:
disease of metabolism
xref:
DOID:0014667; HP:0001939;
ICD10CM:E70-E88
; ICD10WHO:E70-E90; ICD9:277.8; ICD9:277.9; MEDGEN:44376;
MESH:D008659
;
MONDO:0005066
; NANDO:1100002;
NCI:C3235
; SCTID:75934005; SNOMEDCT:75934005; UMLS:C0025517
external_ontology:
in_taxon EFO:NCBITaxon:9606
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Term
Annotations
experimental factor
0
material property
0
disposition
0
disease
0
metabolic disease
0
ALG13-CDG
0
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
0
Autosomal dominant primary hypomagnesemia with hypocalciuria
0
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
0
CHST3-related skeletal dysplasia
0
Chédiak-Higashi syndrome
0
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
0
Congenital atransferrinemia
0
Congenital dyserythropoietic anemia type II
0
Congenital muscular dystrophy, Fukuyama type
0
DPM1-CDG
0
Disorder of amino acid and other organic acid metabolism
+
0
Disorder of biogenic amine metabolism and transport
+
0
Disorder of carbohydrate metabolism
+
0
Disorder of energy metabolism
+
0
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
+
0
Disorder of lipid metabolism
+
0
Disorder of porphyrin and haem metabolism
+
0
Disorder of purine or pyrimidine metabolism
+
0
Disorder of vitamin and non-protein cofactor absorption and transport
+
0
Distal myopathy, Nonaka type
0
Ehlers-Danlos syndrome, progeroid type
0
FTH1-related iron overload
0
Hypertriglyceridemia
+
0
Lysosomal disease
+
0
Other metabolic disease
+
0
Papillon-Lefèvre syndrome
0
Peroxisomal beta-oxidation disorder
+
0
Peroxisome biogenesis disorder-Zellweger syndrome spectrum
+
0
Primary hypomagnesemia with secondary hypocalcemia
0
Rare hereditary hemochromatosis
0
Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
0
Refsum disease
0
Tumor Lysis Syndrome
0
acquired metabolic disease
+
0
amino acid metabolism disease
+
0
amino-acid transport disorder
0
bilirubin metabolism disease
+
0
carbohydrate metabolism disease
+
0
chondrocalcinosis
+
0
developmental anomaly of metabolic origin
+
0
diabetic nephropathy
+
0
diabetic retinopathy
+
0
disorder of acid-base balance
+
0
disorder of glycosylation
+
0
disorder of organic acid metabolism
+
0
dopa-responsive dystonia
+
0
glucose metabolism disease
+
0
glutaric aciduria
+
0
gout
+
0
hemochromatosis
0
hepatic methionine adenosyltransferase deficiency
0
hyperamylasemia
0
hyperlipidemia
+
0
hyperlipoproteinemia
+
0
hyperprolactinemia
+
0
hypoalphalipoproteinemia
+
0
inborn errors of metabolism
+
0
lactic acidosis
+
0
lipodystrophy
+
0
metabolic syndrome
0
metabolic toxicity
0
methylmalonic aciduria (cobalamin deficiency) cblA type
0
mineral metabolism disease
+
0
muscular dystrophy, congenital, with cataracts and intellectual disability
0
nutritional disorder
+
0
peroxisome biogenesis disorder, complementation group 7
0
porphyrin metabolism disease
+
0
proteostasis deficiencies
+
0
purine metabolism disease
+
0
pyrimidine metabolism disease
+
0
steroid dehydrogenase deficiency-dental anomalies syndrome
0
steroid metabolism disease
+
0
x-linked warfarin sensitivity
0
xanthinuria
+
0
xanthoma
0