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Ontology Browser

Term:
pontocerebellar hypoplasia (DOID:0060264)
Annotations: Rat: (23) Mouse: (23) Human: (24) Chinchilla: (22) Bonobo: (22) Dog: (23) Squirrel: (22) Pig: (23)
Parent Terms Term With Siblings Child Terms
aceruloplasminemia  
agenesis of the corpus callosum with peripheral neuropathy  
Arima Syndrome 
Behrens Baumann Dust Syndrome 
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  
Cerebellar Degeneration-Related Autoantigen 3 
cerebellar hypoplasia +   
Cerebellar Neoplasms +   
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
Cerebelloparenchymal Disorder VI 
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 
Dandy-Walker syndrome +   
demyelinating disease +   
Dykes Markes Harper Syndrome 
Dystonia with Cerebellar Atrophy 
eye degenerative disease +   
eyelid degenerative disease +  
Feigenbaum Bergeron Richardson Syndrome 
FINCA Syndrome  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15  
hereditary ataxia +   
Huntington's disease-like 2  
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
Joubert syndrome +   
L-2-hydroxyglutaric aciduria  
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Miller Fisher 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  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures  
Neuronal Intranuclear Inclusion Disease  
olivopontocerebellar atrophy +   
Paraneoplastic Cerebellar Degeneration 
PEHO syndrome  
plexopathy 
pontocerebellar hypoplasia +   
A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum. (DO)
Porencephaly Cerebellar Hypoplasia Malformations 
PORETTI-BOLTSHAUSER SYNDROME  
postpoliomyelitis syndrome 
primary cerebellar degeneration +   
prion disease +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar 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  
Spastic Pseudosclerosis 
Stevenson-Carey Syndrome 
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Subacute Cerebellar Degeneration 
Subacute Combined Degeneration  
synucleinopathy +   
tauopathy +   
TDP-43 Proteinopathies +   

Synonyms
Exact Synonyms: Congenital Pontocerebellar Hypoplasia ;   PCH
Primary IDs: MESH:C580383
Alternate IDs: RDO:0015918
Xrefs: GARD:10977 ;   OMIM:PS607596
Definition Sources: https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia#definition "DO"

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