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Ontology Browser

Term:
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (DOID:9005822)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
brain disease +     
Dysosteosclerosis +     
aceruloplasminemia  
Acute Febrile Encephalopathy 
agenesis of the corpus callosum with peripheral neuropathy  
akinetic mutism 
alveolar echinococcosis 
amblyopia +   
basal ganglia disease +   
baylisascariasis 
Beta-Ureidopropionase Deficiency  
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  
An autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum.
Brain Abscess +   
brain compression  
Brain Death  
brain edema +   
Brain Hypoxia +   
Brain Injuries +   
Brain Neoplasms +   
Central Auditory Diseases +   
central nervous system origin vertigo 
cerebellar disease +   
cerebral degeneration +   
cerebritis 
cerebrovascular disease +   
Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy  
Childhood-Onset Neurodegeneration with Brain Atrophy  
Childhood-Onset Neurodegeneration with Cerebellar Atrophy  
Chronic Brain Damage +   
Chronic Traumatic Encephalopathy 
Colpocephaly  
complex cortical dysplasia with other brain malformations +   
Crome Syndrome 
cystic echinococcosis  
dementia +   
demyelinating disease +   
Dermatoleukodystrophy 
diabetic encephalopathy  
disease of mental health +   
encephalitis +   
encephalomalacia +   
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED  
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8  
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3  
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES  
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY  
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM  
epilepsy +   
eye degenerative disease +   
eyelid degenerative disease +  
Feigenbaum Bergeron Richardson Syndrome 
FINCA Syndrome  
Granulomas, Congenital Cerebral 
Headache Disorders +   
hepatic encephalopathy +   
hereditary ataxia +   
heterophyiasis 
Huntington's disease-like 2  
hydrocephalus +   
hypoglycemic coma 
hypothalamic disease +   
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
infantile cerebellar-retinal degeneration  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
intracranial hypertension +   
intracranial hypotension 
Keratosis Follicularis Dwarfism Cerebral Atrophy 
Kuzniecky Andermann Syndrome 
Leukoencephalopathies +   
lymphocytic choriomeningitis  
Metabolic Brain Diseases +   
Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression  
Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization  
motor neuron disease +   
movement disease +   
multiple system atrophy +   
myoclonic cerebellar dyssynergia +  
Nervous System Heredodegenerative Disorders +   
neurodegeneration with brain iron accumulation +   
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES  
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART  
Neuronal Intranuclear Inclusion Disease  
neuroschistosomiasis 
Non-Lissencephalic Cortical Dysplasia 
olivopontocerebellar atrophy +   
paragonimiasis 
Paraneoplastic Syndromes, Nervous System +   
PEHO syndrome  
phaeohyphomycosis +  
Pick's disease  
plexopathy 
pontocerebellar hypoplasia +   
postpoliomyelitis syndrome 
primary cerebellar degeneration +   
prion disease +   
Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis  
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Progressive Encephalopathy, with or without Lipodystrophy  
Pseudo-TORCH Syndrome +   
pseudobulbar palsy +  
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant 
Rajab Syndrome  
Rambaud Galian Syndrome 
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations  
secondary Parkinson disease +   
Sener Syndrome 
senile degeneration of brain 
Sepsis-Associated Encephalopathy  
sparganosis 
Spastic Pseudosclerosis 
Subacute Combined Degeneration  
Subdural Effusion 
synucleinopathy +   
tauopathy +   
TDP-43 Proteinopathies +   
tertiary neurosyphilis +  
thalamic disease +   
Thyrocerebral-Retinal Syndrome 
toxocariasis +   
transient global amnesia 
Wernicke encephalopathy  

Synonyms
Exact Synonyms: BANDDOS
Primary IDs: OMIM:618476
Definition Sources: OMIM:618476

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