Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
2,4-Dienoyl-CoA Reductase Deficiency  
acatalasia  
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-II DEFICIENCY  
Apolipoprotein E, Deficiency or Defect of +   
autoimmune disease of the nervous system +   
autonomic nervous system disease +   
Barth syndrome +   
BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME  
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
carnitine-acylcarnitine translocase deficiency  
central nervous system disease +   
cerebrotendinous xanthomatosis  
Chronobiology Disorders +   
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  
Desmosterolosis  
diplegia of upper limb 
Dyslipidemias +   
familial combined hyperlipidemia +   
familial hyperlipidemia +   
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets  
Gerstmann syndrome 
glutaric acidemia type 3  
Glycosylphosphatidylinositol Deficiency +   
herpes zoster +   
Hypertriglyceridemia, Transient Infantile  
hypolipoproteinemia +   
Infantile Multisystem Neurologic Disease with Osseous Fragility 
infantile Refsum disease  
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease +   
intestinal pseudo-obstruction +   
LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT  
lipid storage disease +   
lipodystrophy +   
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
medium chain acyl-CoA dehydrogenase deficiency  
MEND syndrome  
mevalonic aciduria  
Mitchell syndrome  
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency  
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 +   
Neurologic Manifestations +   
Norrie disease  
Pancreatic Lipase Deficiency  
peripheral nervous system disease +   
peroxisomal acyl-CoA oxidase deficiency  
peroxisomal biogenesis disorder +   
Polyglucosan Body Disease, Adult Form  
Refsum disease +   
retinal dystrophy with leukodystrophy  
rhizomelic chondrodysplasia punctata +   
rhizomelic chondrodysplasia punctate type 4  
Roy Maroteaux Kremp Syndrome 
sensory system disease +   
short chain acyl-CoA dehydrogenase deficiency  
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 +   

Synonyms
Exact Synonyms: AMACR Deficiency ;   AMACRD
Primary IDs: MESH:C565768
Alternate IDs: MIM:614307
Xrefs: EFO:1001980
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11861706 "DO" "DO"

paths to the root