Human Phenotype Ontology

The Human Phenotype Ontology table provides information on the disease phenotypes associated with a particular gene.

Gene: IL6

Cytoband position: 7p15.3

OMIM: 147620

RVIS score: 0.73

RVIS percentage: 85.98

Phenotype name	HPO ID	Alternative HPO ID	Phenotype description
Abnormal liver morphology	HP:0410042	None	Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.
Decreased level of 1,5 anhydroglucitol in serum	HP:0410050	None	A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues.
Abnormality of the eye	HP:0000478	None	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
Uveitis	HP:0000554	None	Inflammation of one or all portions of the uveal tract.
Acute phase response	HP:0033331	None	Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing.
Abnormal blood vessel morphology	HP:0033353	None	Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).
Abnormality of the nervous system	HP:0000707	HP:0006987	An abnormality of the nervous system.
Behavioral abnormality	HP:0000708	HP:0002456	An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Abnormality of the endocrine system	HP:0000818	None	An abnormality of the endocrine system.
Diabetes mellitus	HP:0000819	HP:0008260	A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Insulin resistance	HP:0000855	None	Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
Abnormality of the skeletal system	HP:0000924	None	An abnormality of the skeletal system.
Abnormality of the skin	HP:0000951	HP:0007580	An abnormality of the skin.
Hyperpigmentation of the skin	HP:0000953	HP:0007527	A darkening of the skin related to an increase in melanin production and deposition.
Edema	HP:0000969	HP:0000990	An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Skin rash	HP:0000988	None	A red eruption of the skin.
Abnormality of skin pigmentation	HP:0001000	HP:0200045	An abnormality of the pigmentation of the skin.
Abnormal cerebral vascular morphology	HP:0100659	None	An anomaly of the cerebral blood vessels.
Somatic mutation	HP:0001428	None	A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.
Abnormal abdomen morphology	HP:0001438	None	A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
Growth delay	HP:0001510	HP:0008926	A deficiency or slowing down of growth pre- and postnatally.
Abnormality of the integument	HP:0001574	None	An abnormality of the integument, which consists of the skin and the superficial fascia.
Abnormality of the cardiovascular system	HP:0001626	None	Any abnormality of the cardiovascular system.
Abnormal heart morphology	HP:0001627	HP:3000001	Any structural anomaly of the heart.
Abnormal pericardium morphology	HP:0001697	None	An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.
Pericarditis	HP:0001701	None	Inflammation of the sac-like covering around the heart (pericardium).
Arteriovenous malformation	HP:0100026	None	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.
Abnormality of the spleen	HP:0001743	None	An abnormality of the spleen.
Splenomegaly	HP:0001744	HP:0006269	Abnormal increased size of the spleen.
Abnormality of metabolism/homeostasis	HP:0001939	HP:0004367	None
Acidosis	HP:0001941	HP:0001940	Abnormal acid accumulation or depletion of base.
Fever	HP:0001945	None	Body temperature elevated above the normal range.
Ketosis	HP:0001946	HP:0003543	Presence of elevated levels of ketone bodies in the body.
Glucose intolerance	HP:0001952	HP:0000833	Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).
Polydipsia	HP:0001959	None	Excessive thirst manifested by excessive fluid intake.
Chronic colitis	HP:0100281	None	A chronic inflammatory disease of the large intestine (colon, cecum and rectum).
Crohn's disease	HP:0100280	None	A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.
Ketoacidosis	HP:0001993	None	Acidosis resulting from accumulation of ketone bodies.
Morphological central nervous system abnormality	HP:0002011	HP:0007319	A structural abnormality of the central nervous system.
Abnormality of the abdominal organs	HP:0002012	None	An abnormality of the viscera of the abdomen.
Diarrhea	HP:0002014	None	Abnormally increased frequency of loose or watery bowel movements.
Abdominal pain	HP:0002027	None	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Inflammation of the large intestine	HP:0002037	None	Inflammation, or an inflammatory state in the large intestine.
Abnormality of the respiratory system	HP:0002086	None	An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
Abnormal lung morphology	HP:0002088	None	Any structural anomaly of the lung.
Abnormal pleura morphology	HP:0002103	None	An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.
Pleural effusion	HP:0002202	None	The presence of an excessive amount of fluid in the pleural cavity.
Inflammatory abnormality of the eye	HP:0100533	HP:0007891	Inflammation of the eye, parts of the eye or the periorbital region.
Hepatomegaly	HP:0002240	HP:0001398	Abnormally increased size of the liver.
Abnormal intestine morphology	HP:0002242	HP:0002628	An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.
Abnormal large intestine morphology	HP:0002250	None	Any abnormality of the large intestine.
Neoplasm	HP:0002664	HP:0006741	An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).
Abnormality of the immune system	HP:0002715	HP:0010986	An abnormality of the immune system.
Lymphadenopathy	HP:0002716	HP:0002735	Enlargment (swelling) of a lymph node.
Abnormality of the lymph nodes	HP:0002733	HP:0008149	A lymph node abnormality.
Arthralgia	HP:0002829	None	Joint pain.
Autoimmunity	HP:0002960	None	The occurrence of an immune reaction against the organism's own cells or tissues.
Hyperglycemia	HP:0003074	None	An increased concentration of glucose in the blood.
Visceromegaly	HP:0003271	None	Abnormal increased size of the viscera of the abdomen.
Elevated erythrocyte sedimentation rate	HP:0003565	None	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.
Adult onset	HP:0003581	HP:0003669	Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
Late onset	HP:0003584	None	A type of adult onset with onset of symptoms after the age of 60 years.
Onset	HP:0003674	HP:0011007	The age group in which disease manifestations appear.
Abnormality of body weight	HP:0004323	HP:0010718	An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.
Decreased body weight	HP:0004325	HP:0001826	Abnormally low body weight.
Abnormality of acid-base homeostasis	HP:0004360	None	An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.
Abnormality of temperature regulation	HP:0004370	None	An abnormality of temperature homeostasis.
Gastrointestinal inflammation	HP:0004386	None	Inflammation of the alimentary part of the gastrointestinal system.
Gastrointestinal obstruction	HP:0004796	None	None
Intestinal obstruction	HP:0005214	HP:0005239	Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.
Juvenile rheumatoid arthritis	HP:0005681	None	None
Type II diabetes mellitus	HP:0005978	HP:0100652	A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Irregular hyperpigmentation	HP:0007400	None	None
Abnormal consumption behavior	HP:0040202	None	None
Neoplasm of the skin	HP:0008069	None	A tumor (abnormal growth of tissue) of the skin.
Abnormal vascular morphology	HP:0025015	None	None
Abnormality of the digestive system	HP:0025031	None	None
Abnormality of digestive system physiology	HP:0025032	None	A functional anomaly of the digestive system.
Abnormality of digestive system morphology	HP:0025033	None	A structural anomaly of the digestive system.
Constitutional symptom	HP:0025142	None	A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.
Abnormal spleen morphology	HP:0025408	None	Any anomaly of the structure of the spleen.
Stomatitis	HP:0010280	None	Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.
Abnormal circulating protein concentration	HP:0010876	None	An abnormal level of a circulating protein in the blood.
Abnormality of the upper urinary tract	HP:0010935	None	An abnormality of the upper urinary tract.
Abnormality of immune system physiology	HP:0010978	None	A functional abnormality of the immune system.
Abnormal circulating carbohydrate concentration	HP:0011013	None	A deviation from the normal concentration of a carbohydrate in the blood circulation.
Abnormal glucose homeostasis	HP:0011014	None	Abnormality of glucose homeostasis.
Abnormal blood glucose concentration	HP:0011015	None	An abnormality of the concentration of glucose in the blood.
Abnormality of renal excretion	HP:0011036	None	An altered ability of the kidneys to void urine and/or specific substances.
Abnormality of skin physiology	HP:0011122	None	Any abnormality of the physiological function of the skin.
Inflammatory abnormality of the skin	HP:0011123	HP:0007423	The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.
Elevated circulating C-reactive protein concentration	HP:0011227	None	An abnormal elevation of the C-reactive protein level in the blood circulation.
Abnormality of the urinary system physiology	HP:0011277	None	None
Localized skin lesion	HP:0011355	None	A lesion of the skin that is located in a specific region rather than being generalized.
Abdominal symptom	HP:0011458	None	A subjective manifestation of disease localized to the abdomen.
Neoplasm by anatomical site	HP:0011793	None	Neoplasm categorized according to the anatomical site of origin of the neoplasm.
Abnormal oral mucosa morphology	HP:0011830	None	Abnormality of the oral mucosa.
Abnormality of skeletal morphology	HP:0011842	None	An abnormality of the form, structure, or size of the skeletal system.
Anterior uveitis	HP:0012122	None	Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.
Abnormal renal physiology	HP:0012211	HP:0008646	An abnormal functionality of the kidney.
Abnormal respiratory system morphology	HP:0012252	None	A structural anomaly of the respiratory system.
Serositis	HP:0045073	None	Inflammation in any serous cavity.
Abnormal homeostasis	HP:0012337	None	An anomaly in the processes involved in the maintenance of an internal equilibrium.
Abnormal eye morphology	HP:0012372	HP:0012374	A structural anomaly of the globe of the eye, or bulbus oculi.
Abnormal eye physiology	HP:0012373	None	A functional anomaly of the eye.
Abnormality of brain morphology	HP:0012443	None	A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
Pain	HP:0012531	None	An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
Abnormal urine output	HP:0012590	None	An abnormal amount of urine production.
Abnormal nervous system physiology	HP:0012638	None	A functional anomaly of the nervous system.
Abnormal nervous system morphology	HP:0012639	None	A structural anomaly of the nervous system.
Abnormal inflammatory response	HP:0012647	None	Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
Increased inflammatory response	HP:0012649	None	A abnormal increase in the inflammatory response to injury or infection.
Morphological abnormality of the gastrointestinal tract	HP:0012718	None	Abnormal structure of the gastrointestinal tract.
Functional abnormality of the gastrointestinal tract	HP:0012719	None	Abnormal functionality of the gastrointestinal tract.
Macule	HP:0012733	None	A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.
Abnormal drinking behavior	HP:0030082	None	Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.
Abnormality of cardiovascular system morphology	HP:0030680	HP:0002565	Any structural anomaly of the heart and great vessels.
Clinical course	HP:0031797	None	The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.
Abnormal oral morphology	HP:0031816	None	Any structural anomaly of the mouth, which is also known as the oral cavity.
Abnormal waist to hip ratio	HP:0031818	None	A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.
Increased waist to hip ratio	HP:0031819	None	Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.
Aphthous ulcer	HP:0032154	None	Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
Abnormal circulating metabolite concentration	HP:0032180	None	An abnormal level of an analyte measured in the blood.
Abnormal C-reactive protein level	HP:0032436	None	Any deviation from the normal concentration of C-reactive protein in the blood circulation.
Cerebral arteriovenous malformation	HP:0002408	None	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.
Abnormality of the lymphatic system	HP:0100763	HP:0003012	An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.
Abnormal erythrocyte sedimentation rate	HP:0025021	None	A deviation from normal range of the erythrocyte sedimentation rate (ESR), 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. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.
Autosomal dominant inheritance	HP:0000006	HP:0001463	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Abnormality of the kidney	HP:0000077	None	An abnormality of the kidney.
Abnormality of the urinary system	HP:0000079	None	An abnormality of the urinary system.
Polyuria	HP:0000103	HP:0200060	An increased rate of urine production.
Abnormality of the genitourinary system	HP:0000119	HP:0008713	The presence of any abnormality of the genitourinary system.
Abnormality of head or neck	HP:0000152	None	An abnormality of head and neck.
Abnormality of the mouth	HP:0000153	None	An abnormality of the mouth.
Abnormal oral cavity morphology	HP:0000163	None	Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.
Abnormality of the head	HP:0000234	None	An abnormality of the head.
Abnormality of the face	HP:0000271	None	An abnormality of the face.
Abnormality of the musculoskeletal system	HP:0033127	None	An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.
Abnormal uvea morphology	HP:0000553	None	An abnormality of the uvea, the vascular layer of the eyeball.
Abnormal joint morphology	HP:0001367	None	An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
Arthritis	HP:0001369	None	Inflammation of a joint.
Rheumatoid arthritis	HP:0001370	None	Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.
Joint swelling	HP:0001386	None	None
Abnormality of the liver	HP:0001392	None	An abnormality of the liver.
Heterogeneous	HP:0001425	None	None
Growth abnormality	HP:0001507	HP:0008904	None
Weight loss	HP:0001824	None	Reduction of total body weight.
Kaposi's sarcoma	HP:0100726	None	A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV).
Abnormal eating behavior	HP:0100738	None	Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.
Colitis	HP:0002583	None	Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.
Polyphagia	HP:0002591	HP:0002042	A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
Abnormality of the vasculature	HP:0002597	None	An abnormality of the vasculature.
Abnormality of fluid regulation	HP:0011032	None	An abnormality of the regulation of body fluids.
Abnormality of skin morphology	HP:0011121	None	Any morphological abnormality of the skin.
Hypermelanotic macule	HP:0001034	HP:0200033	A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
Abnormality of the gastrointestinal tract	HP:0011024	None	An abnormality of the gastrointestinal tract.
Multifactorial inheritance	HP:0001426	HP:0001472	A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
Ulcerative colitis	HP:0100279	None	A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.
Recurrent aphthous stomatitis	HP:0011107	None	Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.