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neutral lipid storage disease (DOID:0050729)
Annotations: Rat: (3) Mouse: (3) Human: (4) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
2,4-Dienoyl-CoA Reductase Deficiency  
Acetyl-Coa Carboxylase Deficiency  
alpha-methylacyl-CoA racemase deficiency  
Apolipoprotein E, Deficiency or Defect of +   
arthrogryposis multiplex congenita +   
atrophic muscular disease +   
autosomal recessive congenital ichthyosis 1 +   
autosomal recessive congenital ichthyosis 10  
autosomal recessive congenital ichthyosis 11  
Autosomal Recessive Congenital Ichthyosis 12  
autosomal recessive congenital ichthyosis 13  
autosomal recessive congenital ichthyosis 14  
autosomal recessive congenital ichthyosis 2  
autosomal recessive congenital ichthyosis 3  
autosomal recessive congenital ichthyosis 4A  
autosomal recessive congenital ichthyosis 4B  
autosomal recessive congenital ichthyosis 5  
autosomal recessive congenital ichthyosis 6  
autosomal recessive congenital ichthyosis 7 
autosomal recessive congenital ichthyosis 8  
autosomal recessive congenital ichthyosis 9  
Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related 
Axial Myopathy, Late-Onset +   
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Barth syndrome +   
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
Carey-Fineman-Ziter syndrome  
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
carnitine-acylcarnitine translocase deficiency  
Cephalin Lipidosis 
cerebrotendinous xanthomatosis  
CHILD syndrome  
chronic fatigue syndrome  
CK syndrome  
compartment syndrome +   
Congenital Lp(A) Deficiency  
Congenital Myopathy with Neuropathy and Deafness  
Congenital Universal Muscular Hypoplasia of Krabbe 
Contracture +   
Craniomandibular Disorders +   
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
D-bifunctional protein deficiency  
diaphragm disease +   
Dimauro Disease  
Dyslipidemias +   
Early-Onset Myopathy with Fatal Cardiomyopathy  
Ehlers-Danlos syndrome kyphoscoliotic type 2  
eosinophilia-myalgia syndrome  
Erythrocyte Amp Deaminase Deficiency  
Erythrocyte Lactate Transporter Defect  
Familial Cardiac Lipidosis 
familial combined hyperlipidemia +   
familial hyperlipidemia +   
familial periodic paralysis +   
Farber lipogranulomatosis  
fatty liver disease +   
fibromyalgia +   
Fingerprint Body Myopathy 
Gamstorp-Wohlfart syndrome  
Glycosylphosphatidylinositol Deficiency +   
Hepatic Lipase Deficiency  
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
Hypertriglyceridemia, Transient Infantile  
Hypertrophia Musculorum Vera 
hypolipoproteinemia +   
Ichthyosis Congenita with Biliary Atresia 
Internal Anal Sphincter Myopathy 
Kocher-Debre-Semelaigne Syndrome 
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
lipid storage disease +   
lipodystrophy +   
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
lysosomal and lipase deficiency +   
Marinesco-Sjogren syndrome  
Medial Tibial Stress Syndrome 
medium chain acyl-CoA dehydrogenase deficiency  
MEND syndrome  
Mitochondrial DNA Depletion Syndrome, Myopathic Form +   
mucolipidosis +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
Muscle Cramp +   
Muscle Rigidity +   
Muscle Spasticity +   
muscle tissue disease +   
Muscle Weakness +   
Musculoskeletal Pain +   
Myalgia +   
myofascial pain syndrome +   
Myopathic Carnitine Deficiency 
Myopathy with Abnormal Lipid Metabolism  
Myopathy with Lactic Acidosis, Hereditary  
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia 
myositis +   
myotonic disease +   
Netherton syndrome  
neuronal ceroid lipofuscinosis +   
Neurovisceral Storage Disease with Curvilinear Bodies 
neutral lipid storage disease +   
A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. (DO)
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Pancreatic Lipase Deficiency  
Pectoralis Muscle, Absence of 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
peroxisomal acyl-CoA oxidase deficiency  
Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder   
Phospholipase A2, Group IVA, Deficiency of  
Proximal Myopathy with Focal Depletion of Mitochondria 
Refsum disease +   
Reticular Erythrokeratoderma  
Rhabdomyolysis +   
Self-Healing Collodion Baby 
short chain acyl-CoA dehydrogenase deficiency  
Singleton Merten Syndrome +   
sitosterolemia +   
Sjogren-Larsson syndrome +   
Skeletal Muscle Injuries  
Skeletal Muscle Reperfusion Injury  
Smith-Lemli-Opitz syndrome +   
sphingolipidosis +   
steroid inherited metabolic disorder +   
syndromic X-linked intellectual disability type 10  
systemic primary carnitine deficiency disease  
Tel Hashomer Camptodactyly Syndrome 
tendinitis +   
Treft Sanborn Carey Syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 
Triglyceride Storage Disease, Type I 
Triglyceride Storage Disease, Type II 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Uruguay faciocardiomusculoskeletal syndrome  
Vacuolar Myopathy  
very long chain acyl-CoA dehydrogenase deficiency  
xanthomatosis +   

Exact Synonyms: CDS ;   Chanarin-Dorfman disease ;   Chanarin-Dorfman syndrome ;   DCS ;   Ichthyotic neutral lipid storage disease ;   NLSDI ;   Neutral Lipid Storage Disease With Ichthyosis ;   Neutral lipid storage myopathy ;   Triglyceride Storage Disease with Ichthyosis ;   ichthyosiform erythroderma with leukocyte vacuolation ;   triglyceride storage disease with impaired long-chain fatty acid oxidation
Primary IDs: MESH:C536560
Alternate IDs: OMIM:275630
Definition Sources: "DO" "DO"

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