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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
brain edema +     
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  
Benign Familial Infantile Seizures, 2  
Benign Familial Infantile Seizures, 5  
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  
CAPOS Syndrome  
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 
deafness-dystonia-optic neuronopathy syndrome  
demyelinating disease +   
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES  
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +   
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
eye degenerative disease +   
eyelid degenerative disease +  
Feigenbaum Bergeron Richardson Syndrome 
FINCA Syndrome  
glaucomatous atrophy of optic disc 
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 
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  
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES  
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: DOID:9003922 ;   OMIM:260565 ;   RDO:0001850
Xrefs: GARD:4264 ;   ORDO:2836
Definition Sources: https://en.wikipedia.org/wiki/PEHO_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/28335020 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30385166 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31048081 "DO"

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