Send us a Message

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

Ontology Browser

Parent Terms Term With Siblings Child Terms
2,4-Dienoyl-CoA Reductase Deficiency  
Acetyl-Coa Carboxylase Deficiency  
Alpha-2-Deficient Collagen Disease 
alpha-methylacyl-CoA racemase deficiency  
Anetoderma +   
Apolipoprotein E, Deficiency or Defect of +   
arterial tortuosity syndrome  
autoimmune disease of skin and connective tissue +   
Barth syndrome +   
bone disease +   
Bone Fragility with Contractures, Arterial Rupture, and Deafness  
bullous skin disease +   
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
carnitine-acylcarnitine translocase deficiency  
cartilage disease +   
cellulitis +   
cerebrotendinous xanthomatosis  
chronic interstitial cystitis 
CK syndrome  
collagen disease +   
Congenital Fascial Dystrophy 
Congenital Lp(A) Deficiency  
congenital vertical talus  
Connective Tissue Neoplasms +   
cutaneous lupus erythematosus +   
cutis laxa +   
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
dental pulp disease +   
dermatomyositis +   
Dupuytren Contracture +  
Dyslipidemias +   
enthesopathy +  
familial combined hyperlipidemia +   
familial hyperlipidemia +   
fasciitis +   
fibrodysplasia ossificans progressiva  
Ganglion Cysts 
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets  
Glycosylphosphatidylinositol Deficiency +   
Hepatic Lipase Deficiency  
homocystinuria +   
hyaline fibromatosis syndrome  
Hypertriglyceridemia, Transient Infantile  
hypolipoproteinemia +   
interstitial keratitis +  
interstitial lung disease +   
lipid storage disease +   
lipodystrophy +   
A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue. (DO)
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
Marden-Walker Syndrome  
mediastinitis +  
medium chain acyl-CoA dehydrogenase deficiency  
MEND syndrome  
mucinoses +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myopathy with Abnormal Lipid Metabolism  
necrobiosis lipoidica 
Noonan syndrome +   
ochronosis +   
Osteopoikilosis +   
Pancreatic Lipase Deficiency  
peroxisomal acyl-CoA oxidase deficiency  
Peyronie's disease  
plantar fascial fibromatosis 
pseudoxanthoma elasticum +   
Refsum disease +   
rheumatic disease +   
rhizomelic chondrodysplasia punctate type 4  
short chain acyl-CoA dehydrogenase deficiency  
Smith-Lemli-Opitz syndrome +   
steroid inherited metabolic disorder +   
Stickler syndrome +   
syndromic X-linked intellectual disability type 10  
synovitis +   
systemic lupus erythematosus +   
Triglyceride Storage Disease, Type I 
Triglyceride Storage Disease, Type II 
very long chain acyl-CoA dehydrogenase deficiency  
VISS syndrome  
Volkmann contracture 
xanthomatosis +   

Exact Synonyms: lipodystrophies
Primary IDs: MESH:D008060
Xrefs: EFO:1000727 ;   ICD9CM:272.6 ;   NCI:C97093
Definition Sources: "DO" "DO", "DO" "DO"

paths to the root