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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +   
acrodermatitis enteropathica  
adrenoleukodystrophy +   
Akathisia, Drug-Induced 
Alcoholic Liver Diseases +   
Alexander Disease  
Alopecia, Hypogonadism, Extrapyramidal Disorder  
alpha 1-antitrypsin deficiency  
alveolar echinococcosis  
Angelman syndrome  
Asparagine Synthetase Deficiency  
atransferrinemia  
autosomal dominant hypocalcemia +   
basal ganglia calcification +   
basal ganglia cerebrovascular disease +  
benign shuddering attacks 
Beta-Ureidopropionase Deficiency  
biotin-responsive basal ganglia disease  
branched-chain keto acid dehydrogenase kinase deficiency  
Budd-Chiari syndrome +   
Canavan disease  
capillariasis 
Carnitine Palmitoyltransferase II Deficiency, Infantile  
Cerebrocortical Degeneration of Infancy 
childhood spinal muscular atrophy +   
chorea gravidarum 
choreatic disease +   
clonorchiasis  
COACH syndrome  
Cockayne syndrome +   
congenital mirror movement disorder +   
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
creatine transporter deficiency  
CST3-related cerebral amyloid angiopathy +   
Cyanosis and Hepatic Disease 
cystic echinococcosis  
Defect of Tricarboxylic Acid Cycle 
Dyskinesias +   
dystonia +   
Dystonia Musculorum Deformans +   
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES  
encephalopathy due to defective mitochondrial and peroxisomal fission 1  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
extrapyramidal and movement disease 
Familial Amyloid Polyneuropathies +   
familial encephalopathy with neuroserpin inclusion bodies  
Familial Hypophosphatemia +   
familial periodic paralysis +   
fatty liver disease +   
Focal Nodular Hyperplasia 
frontotemporal dementia +   
galactosemia +   
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
glycine encephalopathy +   
Glycogen Storage Disease 0, Liver  
glycogen storage disease IX +   
glycogen storage disease VI  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
GSD IV, Nonprogressive Hepatic 
guanidinoacetate methyltransferase deficiency  
Hartnup disease  
hemochromatosis +   
Hepatic Insufficiency +   
Hepatic Porphyrias +   
hepatic tuberculosis 
hepatic vascular disease +   
hepatitis +   
Hepatomegaly +   
hepatopulmonary syndrome  
hepatorenal syndrome  
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
homocarnosinosis  
homocystinuria +   
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
hyperlysinemia +   
hypermanganesemia with dystonia +   
Hyperzincemia and Hypercalprotectinemia 
Hyperzincemia with Functional Zinc Depletion 
hypophosphatasia +   
Idiopathic Copper Toxicosis 
intrahepatic cholestasis +   
Kennedy's disease  
Lafora disease  
Leigh disease +   
Lesch-Nyhan syndrome +   
Leukoencephalomyelopathy  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Liver Abscess +   
liver carcinoma in situ 
liver cirrhosis +   
Liver Fibrocystic Disease and Polydactyly 
liver inflammatory pseudotumor 
Liver Injury +   
Liver Neoplasms +   
Lysosomal Storage Diseases, Nervous System +   
maple syrup urine disease +   
Meige syndrome 
MELAS syndrome +   
Menkes disease +   
Mental Retardation, X-Linked +   
MERRF Syndrome +   
mevalonic aciduria  
Microphthalmia and Mental Deficiency 
mitochondrial DNA depletion syndrome 6  
molybdenum cofactor deficiency +   
motor peripheral neuropathy +   
multiple system atrophy +   
myotonia congenita +   
myotonic dystrophy type 1 +   
Neuhauser Eichner Opitz Syndrome 
neuroacanthocytosis +   
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuroleptic malignant syndrome 
neuronal ceroid lipofuscinosis +   
Non-Lissencephalic Cortical Dysplasia 
occipital horn syndrome  
oculocerebrorenal syndrome +   
opisthorchiasis  
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration +   
paragonimiasis 
Parasitic Liver Diseases +   
Parkinsonian Disorders +   
PCWH syndrome  
peliosis hepatis  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
phenylketonuria +   
Phosphoenolpyruvate Carboxykinase Deficiency +   
polycystic echinococcosis 
polycystic liver disease +   
portal hypertension +   
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
primary hypomagnesemia +   
Progressive Pallidal Degeneration with Retinitis Pigmentosa 
Progressive Psychomotor Deterioration  
progressive supranuclear palsy +   
Pronation-Supination Of The Forearm, Impairment Of 
Pseudo-TORCH Syndrome 2  
pseudohypoparathyroidism +   
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations  
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Refsum disease +   
renal-hepatic-pancreatic dysplasia +   
Retinohepatoendocrinologic Syndrome 
Silengo Lerone Pelizza Syndrome 
Spastic Paraplegia with Associated Extrapyramidal Signs 
spinal muscular atrophy with lower extremity predominance +   
Spongiform Encephalopathy with Neuropsychiatric Features  
Stiff-Person syndrome  
syndromic microphthalmia 10 
syndromic X-linked intellectual disability 5  
Telfer Sugar Jaeger Syndrome 
tic disorder +   
toxocariasis +   
Trichohepatoneurodevelopmental Syndrome  
tuberous sclerosis +   
tyrosinemia +   
tyrosinemia type II  
Unverricht-Lundborg syndrome +   
urea cycle disorder +   
visceral leishmaniasis  
Waisman syndrome  
Wilson disease +   
A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.
Woodhouse-Sakati Syndrome  
Zellweger syndrome +   
Zinc, Elevated Plasma 

Synonyms
Exact Synonyms: Copper Storage Disease ;   Hepatic Form of Wilson Disease ;   Hepato Neurologic Wilson Disease ;   Hepato-Neurologic Wilson Diseases ;   Hepatocerebral Degeneration ;   Hepatocerebral Degenerations ;   Hepatolenticular Degeneration Syndrome ;   Kinnier Wilson Disease ;   Kinnier-Wilson Diseases ;   Neurohepatic Degeneration ;   Neurohepatic Degenerations ;   Progressive Lenticular Degeneration ;   Pseudosclerosis ;   WD ;   WND ;   Westphal Strumpell Syndrome ;   Westphal pseudosclerosis ;   Wilson Disease, Hepatic Form ;   Wilson's disease ;   Wilsons disease ;   cerebral pseudoscleroses ;   cerebral pseudosclerosis ;   hepatolenticular degeneration
Narrow Synonyms: Wilson disease, COMMD1 type
Primary IDs: MESH:D006527
Alternate IDs: OMIA:001071 ;   OMIA:001988 ;   OMIM:277900 ;   RDO:0002346
Xrefs: GARD:7893 ;   ICD10CM:E83.01 ;   NCI:C84756
Definition Sources: MESH:D006527

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