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Ontology Browser

Term:
Huntington's disease-like 2 (DOID:0090104)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3-methylglutaconic aciduria type 3  
aceruloplasminemia  
agenesis of the corpus callosum with peripheral neuropathy  
AIDS Dementia Complex  
Alexander Disease  
alexia +  
Alzheimer's disease +   
amnestic disorder +   
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1  
anxiety disorder +   
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
Auditory Perceptual Disorders +   
Benign Familial Chorea  
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  
Brain-Lung-Thyroid Syndrome  
Canavan disease  
Cerebral Amyloidosis with Spongiform Encephalopathy +   
Cerebrocortical Degeneration of Infancy 
childhood spinal muscular atrophy +   
Childhood-Onset Chorea with Psychomotor Retardation  
Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy  
Childhood-Onset Neurodegeneration with Brain Atrophy  
Childhood-Onset Neurodegeneration with Cerebellar Atrophy  
CHOPS Syndrome  
chorea gravidarum 
Choreoathetosis, Familial Inverted 
Chronic Traumatic Encephalopathy 
Cockayne syndrome +   
Cognitive Dysfunction +   
Cognitive Impairment with or Without Cerebellar Ataxia  
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
Consciousness Disorders +   
Creutzfeldt-Jakob disease +   
deafness-dystonia-optic neuronopathy syndrome  
dementia +   
Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques 
demyelinating disease +   
Diffuse Neurofibrillary Tangles with Calcification 
Dystonia Musculorum Deformans +   
eye degenerative disease +   
eyelid degenerative disease +  
Familial Amyloid Polyneuropathies +   
familial encephalopathy with neuroserpin inclusion bodies  
Feigenbaum Bergeron Richardson Syndrome 
FINCA Syndrome  
Frontotemporal Lobar Degeneration +   
Generalized Epilepsy and Paroxysmal Dyskinesia  
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
hereditary ataxia +   
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
hereditary spastic paraplegia 75  
Huntington's disease +   
Huntington's disease-like 2  
A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. (DO)
Huntington's Disease-Like Syndrome  
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
ITM2B-related cerebral amyloid angiopathy 2  
juvenile amyotrophic lateral sclerosis with dementia 
Kennedy's disease  
Kluver-Bucy syndrome +  
Kohlschutter-Tonz syndrome  
Lafora disease  
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA  
Leukoencephalomyelopathy  
Lewy body dementia +   
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
MAST syndrome  
Mental Retardation, X-Linked +   
mitochondrial DNA depletion syndrome 6  
mood disorder +   
motor neuron disease +   
Motor Neuron Disease with Dementia and Ophthalmoplegia 
motor peripheral neuropathy +   
multiple system atrophy +   
myoclonic cerebellar dyssynergia +  
myotonia congenita +   
myotonic dystrophy type 1 +   
Nervous System Heredodegenerative Disorders +   
neuroacanthocytosis +   
neurodegeneration with brain iron accumulation +   
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY  
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuronal ceroid lipofuscinosis +   
Neuronal Intranuclear Inclusion Disease  
olivopontocerebellar atrophy +   
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration +   
Paraneoplastic Syndromes, Nervous System +   
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
PCWH syndrome  
PEHO syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
Pick's disease  
plexopathy 
pontocerebellar hypoplasia +   
postpoliomyelitis syndrome 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Presenile Dementia, Kraepelin Type 
primary cerebellar degeneration +   
Primary Progressive Aphasia +   
prion disease +   
Progressive Psychomotor Deterioration  
psychotic disorder +   
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant 
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Remitting Chorea with Nystagmus and Cataracts 
secondary Parkinson disease +   
Spastic Paraplegia, Optic Atrophy, and Dementia 
Spastic Pseudosclerosis 
spinal muscular atrophy with lower extremity predominance +   
Spongiform Encephalopathy with Neuropsychiatric Features  
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Subacute Combined Degeneration  
subacute delirium +   
syndromic microphthalmia 10 
synucleinopathy +   
tauopathy +   
TDP-43 Proteinopathies +   
tuberous sclerosis +   
Unverricht-Lundborg syndrome +   
vascular dementia +   
Wilson disease +   
Wright Dyck Syndrome 

Synonyms
Exact Synonyms: HDL2 ;   Huntington Disease-Like 2
Primary IDs: MESH:C564708 ;   RDO:0013578
Alternate IDs: OMIM:606438
Xrefs: ORDO:98934
Definition Sources: https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome "DO", https://www.omim.org/entry/606438 "DO"

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