Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
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  

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

paths to the root