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Ontology Browser
Term:
inherited lipid metabolism disorder
(EFO:MONDO:0002525)
Annotations:
Rat: (0)
Mouse: (0)
Human: (0)
Chinchilla: (0)
Bonobo: (0)
Dog: (0)
Squirrel: (0)
Pig: (0)
Naked Mole-rat: (0)
Green Monkey: (0)
Parent Terms
Term With Siblings
Child Terms
inborn errors of metabolism
+
2-hydroxyglutaric aciduria
+
abdominal obesity-metabolic syndrome
+
achondrogenesis type IB
apolipoprotein c-III deficiency
aromatase excess syndrome
ASAH1-related disorders
+
atelosteogenesis type II
autosomal dominant dopa-responsive dystonia
+
autosomal dominant myoglobinuria
autosomal dominant proximal renal tubular acidosis
autosomal recessive proximal renal tubular acidosis
chondrocalcinosis 2
chondrodysplasia with joint dislocations, gPAPP type
congenital disorder of deglycosylation
+
congenital disorder of glycosylation
+
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
diastrophic dysplasia
disorder of lysosomal-related organelles
+
disorder of metabolite absorption and transport
+
disorder of peptide and amine metabolism
+
DNA repair deficiency
+
Ehlers-Danlos syndrome, spondylodysplastic type
+
familial hypocalciuric hypercalcemia
+
familial hypoparathyroidism
+
familial intrahepatic cholestasis
+
ferro-cerebro-cutaneous syndrome
fish eye disease
gluthathione peroxidase deficiency
glycoprotein metabolism disease
+
hemolytic anemia due to diphosphoglycerate mutase deficiency
hereditary amyloidosis
+
hereditary lipodystrophy
+
hereditary recurrent myoglobinuria
+
hypercalcemia, infantile
+
hypermanganesemia with dystonia
+
hypertriglyceridemia 2
hypoalphalipoproteinemia, primary, 1
hypophosphatasia
+
hypotonia-failure to thrive-microcephaly syndrome
inborn aminoacylase deficiency
+
inborn carbohydrate metabolic disorder
+
inborn disorder of amino acid and other organic acid metabolism
+
inborn disorder of amino acid metabolism
+
inborn disorder of biogenic amine metabolism and transport
+
inborn disorder of energy metabolism
+
inborn disorder of porphyrin metabolism
+
inborn disorder of purine or pyrimidine metabolism
+
inborn glycerol kinase deficiency
+
inborn metal metabolism disorder
+
inherited lipid metabolism disorder
+
An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.
inherited thyroid metabolism disease
+
lysosomal storage disease
+
monogenic diabetes
+
mucopolysaccharidosis or mucopolysaccharidosis-like disorder
+
multiple epiphyseal dysplasia type 4
NAD(P)HX dehydratase deficiency
neurodegeneration with brain iron accumulation
+
normophosphatemic familial tumoral calcinosis
peroxisomal disease
+
plasma protein metabolism disease
+
polysyndactyly 4
+
renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
spondyloepimetaphyseal dysplasia, PAPSS2 type
spondyloepiphyseal dysplasia with congenital joint dislocations
sulfation-related bone disorder
sulfide quinone oxidoreductase deficiency
synucleinopathy
+
thiopurine metabolic disease
+
tumoral calcinosis, hyperphosphatemic, familial, 2
tumoral calcinosis, hyperphosphatemic, familial, 3
uridine-cytidineuria
vitamin metabolic disorder
+
Waldenstrom macroglobulinemia
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
cortisone reductase deficiency
developmental and epileptic encephalopathy, 55
disorder of phospholipids, sphingolipids and fatty acids biosynthesis
+
disorder of plasmalogens biosynthesis
+
familial hyperlipidemia
+
glucocorticoid resistance
glycosylphosphatidylinositol biosynthesis defect 15
glycosylphosphatidylinositol biosynthesis defect 16
glycosylphosphatidylinositol biosynthesis defect 17
glycosylphosphatidylinositol biosynthesis defect 18
hypolipoproteinemia
+
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
+
inborn disorder of ketolysis
+
inherited fatty acid metabolism disorder
+
lipoid proteinosis
lysosomal lipid storage disorder
+
mitochondrial trifunctional protein deficiency
+
neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
pancreatic triacylglycerol lipase deficiency
+
steroid inherited metabolic disorder
+
sterol metabolism disorder
+
syndromic dyslipidemia
+
Synonyms
Exact Synonyms:
DOID:3146
; NCIT:C97092 ; Orphanet:309005 ; http://identifiers.org/medgen/57587 ; http://identifiers.org/snomedct/267431006 ; http://identifiers.org/snomedct/402788005 ; http://linkedlifedata.com/resource/umls/id/C0154251
Synonyms:
http://identifiers.org/meddra/10061227
Broad Synonyms:
disorder of lipid metabolism ; dyslipidaemia ; dyslipidemia ; lipid metabolism disorder
Related Synonyms:
fatty acid metabolism disorder
Alternate IDs:
MONDO:0002525
Xrefs:
DOID:3146
;
GARD:21314
; ICD9:272.8 ; ICD9:272.9 ; MEDGEN:57587 ; MedDRA:10061227 ;
NCI:C97092
;
ORDO:309005
; SCTID:267431006 ; SCTID:402788005
External Ontologys:
disease_disrupts EFO:GO:0006629
Definition Sources:
NCIT:C97092