Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Ontology Browser
Term:
neurodegeneration with brain iron accumulation (DOID:0110734)
Annotations: Rat: (15) Mouse: (15) Human: (16) Chinchilla: (15) Bonobo: (15) Dog: (15) Squirrel: (15) Pig: (15)
Parent Terms Term With Siblings Child Terms
aceruloplasminemia  
agenesis of the corpus callosum with peripheral neuropathy  
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  
cerebral folate receptor alpha deficiency  
Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy  
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
Childhood-Onset Neurodegeneration with Brain Atrophy  
Childhood-Onset Neurodegeneration with Cerebellar Atrophy  
Chronic Traumatic Encephalopathy 
CSF1R-related brain malformation and osteopetrosis 
demyelinating disease +   
eye degenerative disease +   
eyelid degenerative disease +  
Feigenbaum Bergeron Richardson Syndrome 
FINCA Syndrome  
Heme Oxygenase 1 Deficiency  
hemosiderosis +   
hereditary ataxia +   
Hunter Carpenter Macdonald Syndrome 
Huntington's disease-like 2  
Hyperferritinemia +   
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
iron deficiency anemia +   
Iron Overload +   
Karak Syndrome  
L-Ferritin Deficiency  
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Maccario Mena Weir Syndrome 
motor neuron disease +   
multiple system atrophy +   
myoclonic cerebellar dyssynergia +  
Nervous System Heredodegenerative Disorders +   
Nervous System Paraneoplastic Syndromes +   
neurodegeneration with brain iron accumulation +   
A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. (DO)
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA  
NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE  
Neuronal Intranuclear Inclusion Disease  
olivopontocerebellar atrophy +   
Osteopetrosis and Infantile Neuroaxonal Dystrophy 
PEHO syndrome  
plexopathy 
pontocerebellar hypoplasia +   
postpoliomyelitis syndrome 
primary cerebellar degeneration +   
prion disease +   
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant 
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration  
Schindler Disease, Type I  
secondary Parkinson disease +   
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS  
Spastic Pseudosclerosis 
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Subacute Combined Degeneration  
synucleinopathy +   
tauopathy +   
TDP-43 Proteinopathies +   

Synonyms
Exact Synonyms: NBIA ;   Neurodegeneration with brain iron accumulation (NBIA)
Narrow Synonyms: Neuroaxonal dystrophy, PLA2G6-related ;   Neurodegeneration with brain iron accumulation 1, atypical
Related Synonyms: Iron Accumulation In Brain
Primary IDs: MESH:C538421
Alternate IDs: OMIA:002105 ;   RDO:0004395
Xrefs: GARD:11899 ;   OMIM:PS234200 ;   ORDO:385
Definition Sources: https://rarediseases.info.nih.gov/diseases/11899/index "DO", https://www.ncbi.nlm.nih.gov/pubmed/18981035 "DO", https://www.ninds.nih.gov/Disorders/All-Disorders/Neurodegeneration-Brain-Iron-Accumulation-Information-Page "DO"

paths to the root