Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
117 (5.0%) |
6643000 |
CT scan in a case of progressive generalized dystonia with amyotrophic paraplegia. D'Alessandro R, Tinuper P, Lozito A, Sacquegna T, Cortelli P, Pazzaglia P. Ital J Neurol Sci. 1983;4(3):335-7. |
Generalized dystonia | ||
Adult Differential Diagnosis Dystonia Hepatolenticular Degeneration Homo sapiens Male Paraplegia Syndrome X-Ray Computed Tomography | ||
117 (5.0%) |
6324360 |
[Febrile reaction to D-penicillamine]. Seror P, Blotman F, Simon L. Sem Hop. 1984;60(11):784-5. |
Rheumatoid arthritis | ||
Adult Females Fever Homo sapiens Middle Aged Rheumatoid Arthritis | ||
117 (5.0%) |
3975658 |
Radiologic study of 42 cases of Wilson disease. Xie YZ, Zhang XZ, Xu XH, Zhang ZX, Feng YK. Skeletal Radiol. 1985;13(2):114-9. |
Osteoporosis | ||
Adult Arthropathy Calcinosis Child Females Femoral Fractures Hand Hepatolenticular Degeneration Hip Joint Homo sapiens Male Middle Aged Osteochondritis Osteoporosis Rickets | ||
117 (5.0%) |
3814444 |
[Chronic toluene intoxication and hyperkinesie volitionnelle]. Arai K, Tokumaru Y, Yagishita T, Hirayama K, Iwasaki I. No To Shinkei. 1986;38(12):1181-6. |
Mental deterioration | ||
Adult Brain Electromyography Gliosis Homo sapiens Hyperkinesia Male | ||
117 (5.0%) |
3581846 |
High-field magnetic resonance imaging of Wilson's disease. De Haan J, Grossman RI, Civitello L, Hackney DB, Goldberg HI, Bilaniuk LT, Zimmerman RA. J Comput Tomogr. 1987;11(2):132-5. |
Cerebral atrophy | ||
Basal Ganglia Females Hepatolenticular Degeneration Homo sapiens Magnetic Resonance Spectroscopy X-Ray Computed Tomography | ||
117 (5.0%) |
3361051 |
Wilson's disease. Finley TP. J Am Optom Assoc. 1988;59(2):119-20. |
Kayser-Fleischer ring | ||
Adult Cornea Hepatolenticular Degeneration Homo sapiens Male Pigmentation | ||
117 (5.0%) |
2989971 |
An unusual case of Wilson's disease. Madden JW, Ironside JW, Triger DR, Bradshaw JP. Q J Med. 1985;55(216):63-73. |
Progressive cerebellar ataxia | ||
Brain Hepatolenticular Degeneration Homo sapiens Liver Male Middle Aged | ||
117 (5.0%) |
2368812 |
X-linked recessive torsion dystonia in the Philippines. Kupke KG, Lee LV, Viterbo GH, Arancillo J, Donlon T, Muller U. Am J Med Genet. 1990;36(2):237-42. |
Torsion dystonia | ||
Adult Child Dystonia Facial Expression Females Genes, Recessive Homo sapiens Male Middle Aged Philippines X Chromosome | ||
117 (5.0%) |
1870819 |
Recurrent abortion and the diagnosis of Wilson disease. Schagen van Leeuwen JH, Christiaens GC, Hoogenraad TU. Obstet Gynecol. 1991;78(3 Pt 2):547-9. |
Kayser-Fleischer ring | ||
Abortion, Habitual Administration, Oral Adult Females Hepatolenticular Degeneration Homo sapiens Infant, Newborn Pregnancy Pregnancy Outcome Sulfates, Inorganic | ||
117 (5.0%) |
1810163 |
Tongue dyskinesia as an early manifestation of Wilson disease. Liao KK, Wang SJ, Kwan SY, Kong KW, Wu ZA. Brain Dev. 1991;13(6):451-3. |
Dysarthria | ||
Ceruloplasmin Dysarthria Hepatolenticular Degeneration Homo sapiens Male Movement Disorders Tongue Diseases |
Total: 33
HPO ID | Term | Frequency |
---|---|---|
HP:0000140 | Abnormality of the menstrual cycle | Very frequent (99-80%) |
HP:0000716 | Depressivity | Very frequent (99-80%) |
HP:0000718 | Aggressive behavior | Very frequent (99-80%) |
HP:0000952 | Jaundice | Very frequent (99-80%) |
HP:0000978 | Bruising susceptibility | Very frequent (99-80%) |
HP:0000989 | Pruritus | Very frequent (99-80%) |
HP:0001155 | Abnormality of the hand | Very frequent (99-80%) |
HP:0001249 | Intellectual disability | Very frequent (99-80%) |
HP:0001260 | Dysarthria | Very frequent (99-80%) |
HP:0001369 | Arthritis | Very frequent (99-80%) |
HP:0001386 | Joint swelling | Very frequent (99-80%) |
HP:0001394 | Cirrhosis | Very frequent (99-80%) |
HP:0001397 | Hepatic steatosis | Very frequent (99-80%) |
HP:0001508 | Failure to thrive | Very frequent (99-80%) |
HP:0001744 | Splenomegaly | Very frequent (99-80%) |
HP:0001824 | Weight loss | Very frequent (99-80%) |
HP:0001873 | Thrombocytopenia | Very frequent (99-80%) |
HP:0001903 | Anemia | Very frequent (99-80%) |
HP:0002240 | Hepatomegaly | Very frequent (99-80%) |
HP:0002312 | Clumsiness | Very frequent (99-80%) |
HP:0002355 | Difficulty walking | Very frequent (99-80%) |
HP:0002653 | Bone pain | Very frequent (99-80%) |
HP:0002756 | Pathologic fracture | Very frequent (99-80%) |
HP:0002829 | Arthralgia | Very frequent (99-80%) |
HP:0002910 | Elevated hepatic transaminase | Very frequent (99-80%) |
HP:0003418 | Back pain | Very frequent (99-80%) |
HP:0004324 | Increased body weight | Very frequent (99-80%) |
HP:0006554 | Acute hepatic failure | Very frequent (99-80%) |
HP:0008994 | Proximal muscle weakness in lower limbs | Very frequent (99-80%) |
HP:0012115 | Hepatitis | Very frequent (99-80%) |
HP:0030214 | Hypersexuality | Very frequent (99-80%) |
HP:0200032 | Kayser-Fleischer ring | Very frequent (99-80%) |
HP:0200119 | Acute hepatitis | Very frequent (99-80%) |
Total: 83
HPO ID | Term | # of case reports |
---|---|---|
HP:0001394 | Cirrhosis | 11 |
HP:0200032 | Kayser-Fleischer ring | 9 |
HP:0001878 | Hemolytic anemia | 6 |
HP:0001873 | Thrombocytopenia | 4 |
HP:0001260 | Dysarthria | 3 |
HP:0001337 | Tremor | 3 |
HP:0001396 | Cholestasis | 3 |
HP:0012115 | Hepatitis | 3 |
HP:0000096 | Glomerulosclerosis | 2 |
HP:0000099 | Glomerulonephritis | 2 |
HP:0000952 | Jaundice | 2 |
HP:0001250 | Seizures | 2 |
HP:0001251 | Ataxia | 2 |
HP:0001271 | Polyneuropathy | 2 |
HP:0001332 | Dystonia | 2 |
HP:0001399 | Hepatic failure | 2 |
HP:0002027 | Abdominal pain | 2 |
HP:0002480 | Hepatic encephalopathy | 2 |
HP:0003040 | Arthropathy | 2 |
HP:0000093 | Proteinuria | 1 |
HP:0000121 | Nephrocalcinosis | 1 |
HP:0000123 | Nephritis | 1 |
HP:0000135 | Hypogonadism | 1 |
HP:0000347 | Micrognathia | 1 |
HP:0000488 | Retinopathy | 1 |
HP:0000518 | Cataract | 1 |
HP:0000739 | Anxiety | 1 |
HP:0000787 | Nephrolithiasis | 1 |
HP:0000819 | Diabetes mellitus | 1 |
HP:0000824 | Growth hormone deficiency | 1 |
HP:0000956 | Acanthosis nigricans | 1 |
HP:0001289 | Confusion | 1 |
HP:0001300 | Parkinsonism | 1 |
HP:0001304 | Torsion dystonia | 1 |
HP:0001347 | Hyperreflexia | 1 |
HP:0001370 | Rheumatoid arthritis | 1 |
HP:0001733 | Pancreatitis | 1 |
HP:0001903 | Anemia | 1 |
HP:0001909 | Leukemia | 1 |
HP:0001942 | Metabolic acidosis | 1 |
HP:0001945 | Fever | 1 |
HP:0002013 | Vomiting | 1 |
HP:0002015 | Dysphagia | 1 |
HP:0002094 | Dyspnea | 1 |
HP:0002105 | Hemoptysis | 1 |
HP:0002113 | Pulmonary infiltrates | 1 |
HP:0002150 | Hypercalciuria | 1 |
HP:0002315 | Headache | 1 |
HP:0002344 | Progressive neurologic deterioration | 1 |
HP:0002362 | Shuffling gait | 1 |
HP:0002389 | Cavum septum pellucidum | 1 |
HP:0002583 | Colitis | 1 |
HP:0002612 | Congenital hepatic fibrosis | 1 |
HP:0002758 | Osteoarthritis | 1 |
HP:0002942 | Thoracic kyphosis | 1 |
HP:0002960 | Autoimmunity | 1 |
HP:0003088 | Premature osteoarthritis | 1 |
HP:0003124 | Hypercholesterolemia | 1 |
HP:0003201 | Rhabdomyolysis | 1 |
HP:0004373 | Focal dystonia | 1 |
HP:0005912 | Biliary atresia | 1 |
HP:0006562 | Viral hepatitis | 1 |
HP:0006577 | Macronodular cirrhosis | 1 |
HP:0007018 | Attention deficit hyperactivity disorder | 1 |
HP:0008303 | Olivary degeneration | 1 |
HP:0011273 | Anisocytosis | 1 |
HP:0011974 | Myelofibrosis | 1 |
HP:0012393 | Allergy | 1 |
HP:0012532 | Chronic pain | 1 |
HP:0030151 | Cholangitis | 1 |
HP:0031289 | White papule | 1 |
HP:0031364 | Ecchymosis | 1 |
HP:0031843 | Bradyphrenia | 1 |
HP:0032005 | Hemidystonia | 1 |
HP:0040223 | Pulmonary hemorrhage | 1 |
HP:0100026 | Arteriovenous malformation | 1 |
HP:0100543 | Cognitive impairment | 1 |
HP:0100626 | Chronic hepatic failure | 1 |
HP:0100660 | Dyskinesia | 1 |
HP:0100753 | Schizophrenia | 1 |
HP:0100785 | Insomnia | 1 |
HP:0200034 | Papule | 1 |
HP:0200119 | Acute hepatitis | 1 |