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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +   
acrodermatitis enteropathica  
adrenoleukodystrophy +   
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  
cerebral creatine deficiency syndrome 1  
Cerebrocortical Degeneration of Infancy 
childhood spinal muscular atrophy +   
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities  
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 
CST3-related cerebral amyloid angiopathy +   
Cyanosis and Hepatic Disease 
cystic echinococcosis  
Defect of Tricarboxylic Acid Cycle 
Drug-Induced Akathisia 
Dyskinesias +   
dystonia +   
Dystonia Musculorum Deformans +   
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
ENCEPHALOPATHY, PORPHYRIA-RELATED  
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
extrapyramidal and movement disease  
Familial Amyloid Polyneuropathies +   
familial encephalopathy with neuroserpin inclusion bodies  
Familial Hypophosphatemia +   
Familial Partial Lipodystrophy Type 7  
familial periodic paralysis +   
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
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 Granuloma 
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 
immunoglobulin light chain amyloidosis  
INTERSTITIAL LUNG AND LIVER DISEASE  
intrahepatic cholestasis +   
Kennedy's disease  
Lafora disease +   
Leigh disease +   
Lesch-Nyhan syndrome +   
Leukoencephalomyelopathy  
Liver Abscess +   
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 +   
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 +   
neurodevelopmental disorder with involuntary movements  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES  
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 +   
Parkinsonism +   
PCWH syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
phenylketonuria +   
Phosphoenolpyruvate Carboxykinase Deficiency +   
polycystic echinococcosis 
polycystic liver disease +   
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 
serum amyloid A amyloidosis 
Severe Congenital Liver Disease  
Silengo Lerone Pelizza Syndrome 
Spastic Paraplegia with Associated Extrapyramidal Signs 
spinal muscular atrophy with lower extremity predominant +   
Spongiform Encephalopathy with Neuropsychiatric Features  
steatotic liver disease +   
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 metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. (DO)
Woodhouse-Sakati syndrome  
X-Linked Intellectual Developmental Disorders +   
Zellweger syndrome +   
Zinc, Elevated Plasma 

Synonyms
Exact Synonyms: Hepato Neurologic Wilson Disease ;   Hepatocerebral Degeneration ;   Hepatolenticular Degeneration Syndrome ;   Kinnier Wilson Disease ;   Kinnier-Wilson diseases ;   WD ;   WND ;   Westphal Strumpell syndrome ;   Westphal pseudosclerosis ;   Wilson's disease
Narrow Synonyms: Wilson disease, COMMD1 type ;   Wilson disease, hepatic form
Alternate IDs: OMIA:001071 ;   OMIA:001988
Xrefs: GARD:7893 ;   ICD10CM:E83.01 ;   MESH:D006527 ;   MIM:277900 ;   MONDO:0010200 ;   NCI:C84756
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/32279718/ "DO" "DO", https://www.genome.gov/Genetic-Disorders/Wilson-Disease "DO" "DO"

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