Phenotypes
Db Link Name Definition Comment Is a
HPO HP:0100543 Cognitive impairment "Abnormal cognition with deficits in thinking, reasoning, or remembering." [HPO:sdoelken] An individual with cognitive impairment may have trouble remembering, learning new things, concentrating, or making decisions. HP:0011446
HPO HP:0002094 Dyspnea "Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale." [HPO:probinson, PMID:16914301] HP:0002793
HPO HP:0001888 Lymphopenia "A reduced number of lymphocytes in the blood." [HPO:probinson] HP:0040088
HPO HP:0002013 Vomiting "Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions." [HPO:probinson] HP:0002017
HPO HP:0003270 Abdominal distention "Distention of the abdomen." [HPO:probinson] Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction. HP:0011458
HPO HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:probinson, PMID:15832536] It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. HP:0011804
HPO HP:0003565 Elevated erythrocyte sedimentation rate "An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen." [PMID:10524488] HP:0025021, HP:0033331
HPO HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] HP:0012211, HP:0012614
HPO HP:0001698 Pericardial effusion "Accumulation of fluid within the pericardium." [HPO:probinson] HP:0001697
HPO HP:0045042 Decreased serum complement C4 "A reduced level of the complement component C4 in the circulation." [https://emedicine.medscape.com/article/135478-overview] HP:0004431
HPO HP:0001369 Arthritis "Inflammation of a joint." [HPO:probinson] HP:0001367
HPO HP:0002014 Diarrhea "Abnormally increased frequency of loose or watery bowel movements." [HPO:probinson] HP:0011458
HPO HP:0011024 Abnormality of the gastrointestinal tract "An abnormality of the gastrointestinal tract." [HPO:probinson] HP:0025031
HPO HP:0004372 Reduced consciousness/confusion HP:0011446
HPO HP:0025343 Lupus anticoagulant "Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces." [PMID:27331311] Most individuals with lupus anticoagulant do not have lupus erythematosus or other systemic autoimmune disorders. One of the tests for lupus anticoagulant is the dilute Russell's viper venom time (dRVVT). HP:0030057
HPO HP:0002463 Language impairment "Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations." [ISBN:9780890425558] HP:0011446
HPO HP:0000123 Nephritis "The presence of inflammation affecting the kidney." [HPO:probinson] HP:0012211, HP:0012649
HPO HP:0025435 Increased circulating lactate dehydrogenase concentration "An elevated level of the enzyme lactate dehydrogenase in the blood circulation." [] Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate. HP:0045040
HPO HP:0001250 Seizure "A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [HPO:probinson, PMID:15816939] A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. HP:0012638
HPO HP:0001937 Microangiopathic hemolytic anemia HP:0001878
HPO HP:0002301 Hemiplegia "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] HP:0004374
HPO HP:0100749 Chest pain "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest." [] HP:0012531