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Term:
Parent Terms Term With Siblings Child Terms
2,4-Dienoyl-CoA Reductase Deficiency  
Acetyl-Coa Carboxylase Deficiency  
ainhum +  
Alpha-2-Deficient Collagen Disease 
alpha-methylacyl-CoA racemase deficiency  
Anetoderma +   
Apolipoprotein A-I, Deficiency of +   
APOLIPOPROTEIN A-II DEFICIENCY  
Apolipoprotein E, Deficiency or Defect of +   
arterial tortuosity syndrome  
Au-Kline Syndrome  
Barth syndrome +   
bone disease +   
Bone Fragility with Contractures, Arterial Rupture, and Deafness  
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
Carnitine-Acylcarnitine Translocase Deficiency  
cartilage disease +   
cellulitis +   
cerebrotendinous xanthomatosis  
Cholesteryl Ester Transfer Protein Deficiency  
chronic interstitial cystitis 
chylomicron retention disease  
collagen disease +   
Congenital Fascial Dystrophy 
Congenital Lp(A) Deficiency  
Connective Tissue Neoplasms +   
cutaneous lupus erythematosus +   
cutis laxa +   
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
D-bifunctional protein deficiency  
dental pulp disease +   
dermatomyositis +   
Desmosterolosis  
Dupuytren Contracture +  
Dyslipidemias +   
enthesopathy +  
familial combined hyperlipidemia +   
familial hyperlipidemia +   
familial lipoprotein lipase deficiency +   
fasciitis +  
fibrodysplasia ossificans progressiva  
funisitis 
Glycosylphosphatidylinositol Deficiency +   
Hepatic Lipase Deficiency  
homocystinuria +   
hyperlipoproteinemia type IV  
Hypertriglyceridemia, Transient Infantile  
hypolipoproteinemia +   
interstitial keratitis +  
interstitial lung disease +   
Lipase Deficiency Combined  
Lipedema 
lipid storage disease +   
lipodystrophy +   
A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy.
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
Marden-Walker Syndrome  
mediastinitis +  
medium chain acyl-CoA dehydrogenase deficiency  
MEND SYNDROME  
mixed connective tissue disease  
mucinoses +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myopathy with Abnormal Lipid Metabolism  
necrobiosis lipoidica 
neutral lipid storage disease +   
Noonan syndrome +   
ochronosis +  
ossification of the posterior longitudinal ligament of spine  
Osteopoikilosis +   
Pancreatic Lipase Deficiency  
peroxisomal acyl-CoA oxidase deficiency  
PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER  
Peyronie's disease  
Phospholipase A2, Group IVA, Deficiency of  
plantar fascial fibromatosis 
pseudoxanthoma elasticum +   
Refsum disease +   
rheumatic disease +   
short chain acyl-CoA dehydrogenase deficiency  
sitosterolemia  
Smith-Lemli-Opitz syndrome +   
steroid inherited metabolic disorder +   
Stickler syndrome +   
syndromic X-linked intellectual disability type 10  
synovitis +   
systemic scleroderma +   
Triglyceride Storage Disease, Type I 
Triglyceride Storage Disease, Type II 
very long chain acyl-CoA dehydrogenase deficiency  
Volkmann contracture 
xanthomatosis +   

Synonyms
Exact Synonyms: Lipodystrophies
Primary IDs: MESH:D008060 ;   RDO:0000971
Definition Sources: MESH:D008060, https://www.ncbi.nlm.nih.gov/pubmed/25690482, https://www.ncbi.nlm.nih.gov/pubmed/25833179

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