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   new 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

Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
brain edema +     
neurodegenerative disease +     
optic atrophy +     
West syndrome +     
3-methylglutaconic aciduria type 3  
aceruloplasminemia  
agenesis of the corpus callosum with peripheral neuropathy  
Al Gazali Khidr Prem Chandran Syndrome 
Al Gazali Sabrinathan Nair Syndrome 
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Behr syndrome  
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  
CAPOS Syndrome  
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities  
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
childhood-onset neurodegeneration with brain atrophy  
Childhood-Onset Neurodegeneration with Cerebellar Atrophy  
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities  
deafness-dystonia-optic neuronopathy syndrome  
demyelinating disease +   
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +   
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
eye degenerative disease +   
Feigenbaum Bergeron Richardson Syndrome 
FINCA Syndrome  
glaucomatous atrophy of optic disc 
Halperin-Birk syndrome  
hereditary ataxia +   
Hereditary Optic Atrophies +   
Huntington's disease-like 2  
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
infantile cerebellar-retinal degeneration  
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
mitochondrial DNA depletion syndrome 16B  
motor neuron disease +   
multiple system atrophy +   
myoclonic cerebellar dyssynergia +  
Nervous System Heredodegenerative Disorders +   
Nervous System Paraneoplastic Syndromes +   
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT  
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy  
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset  
neurodegeneration with brain iron accumulation +   
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY  
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA  
NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE  
NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY  
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures  
neuronal intranuclear inclusion disease  
Norrie disease  
olivopontocerebellar atrophy +   
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
partial optic atrophy 
PEHO syndrome  
A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. (DO)
plexopathy 
pontocerebellar hypoplasia +   
postpoliomyelitis syndrome 
primary cerebellar degeneration +   
primary optic atrophy 
prion disease +   
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
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  
Silengo Lerone Pelizza Syndrome 
spastic ataxia +   
Spastic Pseudosclerosis 
SPOAN syndrome  
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Subacute Combined Degeneration  
synucleinopathy +   
tauopathy +   
TDP-43 Proteinopathies +   
Treft Sanborn Carey Syndrome 
Warburg micro syndrome +   
X-linked mental retardation Gustavson type  

Synonyms
Exact Synonyms: PEHO ;   PEHO-Like Syndrome ;   infantile cerebellooptic atrophy ;   progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy
Primary IDs: MESH:C536317
Alternate IDs: OMIM:260565
Xrefs: GARD:4264 ;   ORDO:2836
Definition Sources: https://en.wikipedia.org/wiki/PEHO_syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/28335020 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/30385166 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/31048081 "DO" "DO"

paths to the root