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Ontology Browser

Parent Terms Term With Siblings Child Terms
arthrogryposis multiplex congenita +   
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 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
Carey-Fineman-Ziter syndrome +   
Cephalin Lipidosis 
Chanarin-Dorfman syndrome +   
A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. (DO)
CHILD syndrome  
chronic fatigue syndrome  
compartment syndrome +   
Congenital Myopathy with Neuropathy and Deafness  
Congenital Universal Muscular Hypoplasia of Krabbe 
Contracture +   
Craniomandibular Disorders +   
diaphragm disease +   
Dimauro Disease  
Ehlers-Danlos syndrome kyphoscoliotic type 2  
eosinophilia-myalgia syndrome  
Erythrocyte Amp Deaminase Deficiency  
Erythrocyte Lactate Transporter Defect  
Familial Cardiac Lipidosis 
familial periodic paralysis +   
Farber lipogranulomatosis  
fibromyalgia +   
Fingerprint Body Myopathy 
Gamstorp-Wohlfart syndrome  
Granulovacuolar Lobular Myopathy with Electrical Myotonia 
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
Hypertrophia Musculorum Vera 
Ichthyosis Congenita with Biliary Atresia 
Internal Anal Sphincter Myopathy 
Kocher-Debre-Semelaigne Syndrome 
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
lysosomal acid lipase deficiency +   
Marinesco-Sjogren syndrome  
Medial Tibial Stress Syndrome 
Mitochondrial DNA Depletion Syndrome, Myopathic Form +   
mucolipidosis +   
Muscle Cramp +   
Muscle Rigidity +   
Muscle Spasticity +   
muscle tissue disease +   
Muscle Weakness +   
Musculoskeletal Pain +   
Myalgia +   
myofascial pain syndrome +   
Myopathic Carnitine Deficiency 
Myopathy with Lactic Acidosis, Hereditary  
myotonic disease +   
Netherton syndrome  
neuronal ceroid lipofuscinosis +   
Neurovisceral Storage Disease with Curvilinear Bodies 
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Pectoralis Muscle, Absence of 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
Proximal Myopathy with Focal Depletion of Mitochondria 
Reticular Erythrokeratoderma  
Rhabdomyolysis +   
Self-Healing Collodion Baby 
Siddiqi syndrome  
Singleton Merten Syndrome +   
Sjogren-Larsson syndrome +   
Skeletal Muscle Injuries  
Skeletal Muscle Reperfusion Injury  
sphingolipidosis +   
steatotic liver disease +   
systemic primary carnitine deficiency disease  
Tel Hashomer Camptodactyly Syndrome 
tendinitis +   
Treft Sanborn Carey Syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 
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 ;   DCS ;   NLSDI ;   ichthyosiform erythroderma with leukocyte vacuolation ;   ichthyotic neutral lipid storage disease ;   neutral lipid storage disease ;   neutral lipid storage disease with ichthyosis ;   neutral lipid storage myopathy ;   triglyceride storage disease with ichthyosis ;   triglyceride storage disease with impaired long-chain fatty acid oxidation
Primary IDs: MESH:C536560
Alternate IDs: MIM:275630
Xrefs: GARD:3979 ;   ORDO:98907
Definition Sources: "DO" "DO"

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