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Ontology Browser

Term:
NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE (DOID:9001105)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (0) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
aceruloplasminemia  
agenesis of the corpus callosum with peripheral neuropathy  
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  
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 
demyelinating disease +   
eye degenerative disease +   
eyelid degenerative disease +  
Feigenbaum Bergeron Richardson Syndrome 
FINCA Syndrome  
hereditary ataxia +   
Huntington's disease-like 2  
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
motor neuron disease +   
multiple system atrophy +   
myoclonic cerebellar dyssynergia +  
Nervous System Heredodegenerative Disorders +   
Nervous System Paraneoplastic Syndromes +   
neurodegeneration with brain iron accumulation +   
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA  
NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE  
An autosomal recessive disorder characterized by onset of developmental regression with loss of early motor and cognitive milestones in the first year of life. Affected individuals show growth retardation with decreasing head circumference and poor feeding. Brain imaging shows cerebral, cerebellar, and brainstem atrophy and thin corpus callosum.
Neuronal Intranuclear Inclusion Disease  
olivopontocerebellar atrophy +   
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  
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: NERIB ;   SODIUM-DEPENDENT MULTIVITAMIN TRANSPORTER DEFICIENCY SMVT DEFICIENCY ;   infantile-onset biotin-responsive neurodegeneration
pimary_id: OMIM:618973
Definition Sources: OMIM:618973

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