From HPO
Malaise- MedGen UID:
- 65412
- •Concept ID:
- C0231218
- •
- Sign or Symptom
A feeling of general discomfort, weakness, or lack of health.
Glycosuria- MedGen UID:
- 42267
- •Concept ID:
- C0017979
- •
- Finding
An increased concentration of glucose in the urine.
Hypercalciuria- MedGen UID:
- 43775
- •Concept ID:
- C0020438
- •
- Finding
Abnormally high level of calcium in the urine.
Proteinuria- MedGen UID:
- 10976
- •Concept ID:
- C0033687
- •
- Finding
Increased levels of protein in the urine.
Renal tubular dysfunction- MedGen UID:
- 57484
- •Concept ID:
- C0151747
- •
- Disease or Syndrome
Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.
Aminoaciduria- MedGen UID:
- 116067
- •Concept ID:
- C0238621
- •
- Disease or Syndrome
An increased concentration of an amino acid in the urine.
Hyperphosphaturia- MedGen UID:
- 78638
- •Concept ID:
- C0268079
- •
- Disease or Syndrome
An increased excretion of phosphates in the urine.
Nephrolithiasis- MedGen UID:
- 98227
- •Concept ID:
- C0392525
- •
- Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Increased urinary copper concentration- MedGen UID:
- 869263
- •Concept ID:
- C4023688
- •
- Finding
An increased concentration of copper in the urine.
Pedal edema- MedGen UID:
- 116085
- •Concept ID:
- C0239340
- •
- Pathologic Function
An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.
Limb muscle weakness- MedGen UID:
- 107956
- •Concept ID:
- C0587246
- •
- Finding
Reduced strength and weakness of the muscles of the arms and legs.
Abdominal distention- MedGen UID:
- 34
- •Concept ID:
- C0000731
- •
- Finding
Distention of the abdomen.
Ascites- MedGen UID:
- 416
- •Concept ID:
- C0003962
- •
- Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Esophageal varix- MedGen UID:
- 5027
- •Concept ID:
- C0014867
- •
- Disease or Syndrome
Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Jaundice- MedGen UID:
- 43987
- •Concept ID:
- C0022346
- •
- Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Cirrhosis of liver- MedGen UID:
- 7368
- •Concept ID:
- C0023890
- •
- Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Vomiting- MedGen UID:
- 12124
- •Concept ID:
- C0042963
- •
- Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Liver failure- MedGen UID:
- 88444
- •Concept ID:
- C0085605
- •
- Disease or Syndrome
A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.
Acute liver failure- MedGen UID:
- 58125
- •Concept ID:
- C0162557
- •
- Disease or Syndrome
Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.
Atypical or prolonged hepatitis- MedGen UID:
- 338473
- •Concept ID:
- C1848456
- •
- Disease or Syndrome
Hepatocellular carcinoma- MedGen UID:
- 389187
- •Concept ID:
- C2239176
- •
- Neoplastic Process
Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002).
Hepatic steatosis- MedGen UID:
- 398225
- •Concept ID:
- C2711227
- •
- Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Portal fibrosis- MedGen UID:
- 893107
- •Concept ID:
- C3805083
- •
- Disease or Syndrome
Fibroblast proliferation and fiber expansion from the portal areas to the lobule.
Coma- MedGen UID:
- 1054
- •Concept ID:
- C0009421
- •
- Disease or Syndrome
The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.
Dysarthria- MedGen UID:
- 8510
- •Concept ID:
- C0013362
- •
- Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Dystonic disorder- MedGen UID:
- 3940
- •Concept ID:
- C0013421
- •
- Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Hypoesthesia- MedGen UID:
- 6974
- •Concept ID:
- C0020580
- •
- Finding
Decreased ability to perceive touch.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Tremor- MedGen UID:
- 21635
- •Concept ID:
- C0040822
- •
- Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Hypokinesia- MedGen UID:
- 39223
- •Concept ID:
- C0086439
- •
- Finding
Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.
Polyneuropathy- MedGen UID:
- 57502
- •Concept ID:
- C0152025
- •
- Disease or Syndrome
A generalized disorder of peripheral nerves.
Abnormality of extrapyramidal motor function- MedGen UID:
- 115941
- •Concept ID:
- C0234133
- •
- Sign or Symptom
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
Hand tremor- MedGen UID:
- 68689
- •Concept ID:
- C0239842
- •
- Finding
An unintentional, oscillating to-and-fro muscle movement affecting the hand.
Personality changes- MedGen UID:
- 66817
- •Concept ID:
- C0240735
- •
- Mental or Behavioral Dysfunction
An abnormal shift in patterns of thinking, acting, or feeling.
Dementia- MedGen UID:
- 99229
- •Concept ID:
- C0497327
- •
- Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Limb dystonia- MedGen UID:
- 152944
- •Concept ID:
- C0751093
- •
- Sign or Symptom
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
Insomnia- MedGen UID:
- 214589
- •Concept ID:
- C0917801
- •
- Sign or Symptom
Persistent difficulty initiating or maintaining sleep.
Parkinsonism with favorable response to dopaminergic medication- MedGen UID:
- 375989
- •Concept ID:
- C1846868
- •
- Disease or Syndrome
Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.
Poor motor coordination- MedGen UID:
- 338471
- •Concept ID:
- C1848453
- •
- Finding
Decreased nerve conduction velocity- MedGen UID:
- 347509
- •Concept ID:
- C1857640
- •
- Finding
A reduction in the speed at which electrical signals propagate along the axon of a neuron.
Hyposmia- MedGen UID:
- 473584
- •Concept ID:
- C2364082
- •
- Finding
A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).
Mixed demyelinating and axonal polyneuropathy- MedGen UID:
- 870461
- •Concept ID:
- C4024907
- •
- Disease or Syndrome
Face of the giant panda sign- MedGen UID:
- 1814396
- •Concept ID:
- C5676832
- •
- Sign or Symptom
The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Hemolytic anemia- MedGen UID:
- 1916
- •Concept ID:
- C0002878
- •
- Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Rigidity- MedGen UID:
- 7752
- •Concept ID:
- C0026837
- •
- Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Osteoarthritis- MedGen UID:
- 45244
- •Concept ID:
- C0029408
- •
- Disease or Syndrome
Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence.
Genetic Heterogeneity of Susceptibility to Osteoarthritis
Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11.
Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).
Osteomalacia- MedGen UID:
- 14533
- •Concept ID:
- C0029442
- •
- Disease or Syndrome
Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
Osteoporosis- MedGen UID:
- 14535
- •Concept ID:
- C0029456
- •
- Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Chondrocalcinosis- MedGen UID:
- 154303
- •Concept ID:
- C0553730
- •
- Disease or Syndrome
Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
Joint hypermobility- MedGen UID:
- 336793
- •Concept ID:
- C1844820
- •
- Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Edema- MedGen UID:
- 4451
- •Concept ID:
- C0013604
- •
- Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Elevated circulating aspartate aminotransferase concentration- MedGen UID:
- 57497
- •Concept ID:
- C0151904
- •
- Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
Elevated circulating alanine aminotransferase concentration- MedGen UID:
- 57740
- •Concept ID:
- C0151905
- •
- Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Hypouricemia- MedGen UID:
- 113163
- •Concept ID:
- C0221333
- •
- Finding
An abnormally low level of uric acid in the blood.
Hypoalbuminemia- MedGen UID:
- 68694
- •Concept ID:
- C0239981
- •
- Finding
Reduction in the concentration of albumin in the blood.
Decreased circulating ceruloplasmin concentration- MedGen UID:
- 472980
- •Concept ID:
- C0240997
- •
- Finding
Decreased concentration of ceruloplasmin in the blood.
Hyperbilirubinemia- MedGen UID:
- 86321
- •Concept ID:
- C0311468
- •
- Finding
An increased amount of bilirubin in the blood.
High nonceruloplasmin-bound serum copper- MedGen UID:
- 341229
- •Concept ID:
- C1848459
- •
- Finding
An increased concentration of non ceruloplasmin bound copper in the blood.
Increased circulating copper concentration- MedGen UID:
- 1621432
- •Concept ID:
- C4522127
- •
- Finding
An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.
Drooling- MedGen UID:
- 8484
- •Concept ID:
- C0013132
- •
- Finding
Habitual flow of saliva out of the mouth.
Hypoparathyroidism- MedGen UID:
- 6985
- •Concept ID:
- C0020626
- •
- Disease or Syndrome
A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
Kayser-Fleischer ring- MedGen UID:
- 57539
- •Concept ID:
- C0152457
- •
- Disease or Syndrome
Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.
Sunflower cataract- MedGen UID:
- 1052994
- •Concept ID:
- CN377474
- •
- Finding
Sunflower cataract (SC) is a type of anterior subcapsular cataract almost only seen in Wilson disease, an autosomal-recessive condition with a defect in the metabolism of copper leading to accumulation of copper in the liver and basal ganglia. SC consists of a thin, centralized opacification that is located directly under the anterior capsule and encompasses between one-third and one-half of the anterior lens pole surface area. In all cases, the central opacification is surrounded by additional, secondary opacifications arranged in ray-like structures around it. This pattern is said to resemble a sunflower, with a large central disk surrounded by petals.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom