Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 predominant lower extremity +   
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 ;   Neurohepatic Degeneration ;   WD ;   WND ;   Westphal Strumpell syndrome ;   Westphal pseudosclerosis ;   Wilson's disease ;   Wilsons disease ;   cerebral pseudoscleroses ;   cerebral pseudosclerosis ;   copper storage disease ;   hepatic form of Wilson disease ;   hepato-neurologic Wilson diseases ;   hepatocerebral degenerations ;   hepatolenticular degeneration ;   neurohepatic degenerations ;   progressive lenticular degeneration ;   pseudosclerosis
Narrow Synonyms: Wilson disease, COMMD1 type ;   Wilson disease, hepatic form
Primary IDs: MESH:D006527
Alternate IDs: OMIA:001071 ;   OMIA:001988 ;   OMIM:277900
Xrefs: GARD:7893 ;   ICD10CM:E83.01 ;   NCI:C84756
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/32279718/ "DO" "DO", https://www.genome.gov/Genetic-Disorders/Wilson-Disease "DO" "DO"

paths to the root