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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
genetic disease +     
aceruloplasminemia  
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
agenesis of the corpus callosum with peripheral neuropathy  
Alpha-2-Deficient Collagen Disease 
Aquaporin 1 Deficiency  
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
BOCKENHEIMER SYNDROME  
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  
CADASIL +   
CAKUT2  
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
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  
chromosomal disease +   
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
Congenital Hepatic Fibrosis  
Congenital Pain Insensitivity +   
demyelinating disease +   
desquamative interstitial pneumonia  
Dwarfism +   
eye degenerative disease +   
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
Feigenbaum Bergeron Richardson Syndrome 
FINCA Syndrome  
frontotemporal dementia and/or amyotrophic lateral sclerosis-3  
frontotemporal dementia and/or amyotrophic lateral sclerosis-4  
Genetic Skin Diseases +   
hereditary ataxia +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
Huntington's disease-like 2  
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Laminopathies +   
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Marfan syndrome +   
monogenic disease +   
motor neuron disease +   
multiple system atrophy +   
myoclonic cerebellar dyssynergia +  
Nervous System Heredodegenerative Disorders +   
Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.
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 with regression, abnormal movements, loss of speech, and seizures  
neuronal intranuclear inclusion disease  
Nonimmune Chronic Idiopathic Neutropenia, Adult  
olivopontocerebellar atrophy +   
osteochondrodysplasia +   
PEHO syndrome  
plexopathy 
polygenic disease +   
pontocerebellar hypoplasia +   
postpoliomyelitis syndrome 
primary cerebellar degeneration +   
primary hypertrophic osteoarthropathy +   
prion disease +   
progressive familial intrahepatic cholestasis +   
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant 
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Sacral Agenesis with Vertebral Anomalies  
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 +   
yellow nail syndrome +  
 Lafora disease +   
 Wilson disease +   

Synonyms
Exact Synonyms: Degenerative Disease, Nervous System, Hereditary ;   Degenerative Hereditary Disorders, Nervous System ;   Hereditary Neurodegenerative Disease ;   Hereditary Neurodegenerative Diseases ;   INHERITED NEURODEGENERATIVE DISORDER ;   Nervous System Degenerative Hereditary Diseases
Primary IDs: MESH:D020271
Definition Sources: MESH:D020271

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