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alpha-methylacyl-CoA racemase deficiency (DOID:0060602)
Annotations: Rat: (2) Mouse: (2) Human: (3) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
2,4-Dienoyl-CoA Reductase Deficiency  
Acetyl-Coa Carboxylase Deficiency  
adrenoleukodystrophy +   
alpha-methylacyl-CoA racemase deficiency  
A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. (DO)
Apolipoprotein A-I, Deficiency of +   
Apolipoprotein E, Deficiency or Defect of +   
autoimmune disease of the nervous system +   
autonomic nervous system disease +   
Barth syndrome +   
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
carnitine-acylcarnitine translocase deficiency  
central nervous system disease +   
cerebrotendinous xanthomatosis  
Chronobiology Disorders +   
chylomicron retention disease  
CK syndrome  
congenital bile acid synthesis defect 4  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Lp(A) Deficiency  
congenital nervous system abnormality +   
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
D-bifunctional protein deficiency  
diplegia of upper limb 
Dyslipidemias +   
familial combined hyperlipidemia +   
familial hyperlipidemia +   
Gerstmann syndrome 
Glycosylphosphatidylinositol Deficiency +   
Hepatic Lipase Deficiency  
herpes zoster +   
hyperlipoproteinemia type IV  
Hypertriglyceridemia, Transient Infantile  
hypolipoproteinemia +   
Infantile Multisystem Neurologic Disease with Osseous Fragility 
intestinal pseudo-obstruction +   
lipid storage disease +   
lipodystrophy +   
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
medium chain acyl-CoA dehydrogenase deficiency  
MEND syndrome  
mevalonic aciduria  
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myopathy with Abnormal Lipid Metabolism  
Nerve Injuries +   
Nervous System Malformations +   
Nervous System Neoplasms +   
Nervous System Trauma +   
Neurocutaneous Syndromes +   
neurodegenerative disease +   
neurogenic arthrogryposis multiplex congenita +   
Neurologic Manifestations +   
neutral lipid storage disease +   
Norrie disease  
Pancreatic Lipase Deficiency  
peripheral nervous system disease +   
peroxisomal acyl-CoA oxidase deficiency  
peroxisomal biogenesis disorder +   
Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder   
Phospholipase A2, Group IVA, Deficiency of  
Polyglucosan Body Disease, Adult Form  
Refsum disease +   
rhizomelic chondrodysplasia punctata +   
Roy Maroteaux Kremp Syndrome 
sensory system disease +   
short chain acyl-CoA dehydrogenase deficiency  
sitosterolemia +   
Smith-Lemli-Opitz syndrome +   
steroid inherited metabolic disorder +   
syndromic X-linked intellectual disability type 10  
Tang Hsi Ryu Syndrome 
toxic encephalopathy +   
Triglyceride Storage Disease, Type I 
Triglyceride Storage Disease, Type II 
very long chain acyl-CoA dehydrogenase deficiency  
xanthomatosis +   

Exact Synonyms: AMACR Deficiency ;   AMACRD
Primary IDs: MESH:C565768 ;   RDO:0014318
Alternate IDs: OMIM:614307
Definition Sources: "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.