Human Phenotype Ontology

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

Gene: IL10

Cytoband position: 1q32.1

OMIM: 124092

RVIS score: 0.04

RVIS percentage: 56.64

Phenotype name	HPO ID	Alternative HPO ID	Phenotype description
Abnormality of the orbital region	HP:0000315	HP:0000284	None
Abnormality of the kidney	HP:0000077	None	An abnormality of the kidney.
Abnormality of male external genitalia	HP:0000032	None	An abnormality of male external genitalia.
Abnormal testis morphology	HP:0000035	None	An anomaly of the testicle (the male gonad).
Abnormality of the genital system	HP:0000078	None	An abnormality of the genital system.
Abnormality of the urinary system	HP:0000079	None	An abnormality of the urinary system.
Abnormal renal glomerulus morphology	HP:0000095	None	A structural anomaly of the glomerulus.
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.
Oral ulcer	HP:0000155	None	Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
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 vasculature of the eye	HP:0008047	None	None
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.
Abnormality of the ear	HP:0000598	None	An abnormality of the ear.
Photophobia	HP:0000613	None	Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Blindness	HP:0000618	HP:0007839	Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.
Developmental regression	HP:0002376	HP:0007247	Loss of developmental skills, as manifested by loss of developmental milestones.
Behavioral abnormality	HP:0000708	HP:0002456	An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Irritability	HP:0000737	None	A proneness to anger, i.e., a condition of being easily bothered or annoyed.
Abnormal external genitalia	HP:0000811	None	None
Acute coronary syndrome	HP:0033678	None	The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI).
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.
Edema	HP:0000969	HP:0000990	An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Abnormal exteroceptive sensation	HP:0033747	None	A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.
Acne	HP:0001061	HP:0005596	A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
Keratoconjunctivitis	HP:0001096	None	Inflammation of the cornea and conjunctiva.
Keratoconjunctivitis sicca	HP:0001097	None	Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.
Abnormal fundus morphology	HP:0001098	None	Any structural abnormality of the fundus of the eye.
Abnormality of the hand	HP:0001155	HP:0005858	An abnormality affecting one or both hands.
Abnormality of finger	HP:0001167	HP:0003035	An anomaly of a finger.
Seizure	HP:0001250	HP:0010520	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.
Paresthesia	HP:0003401	HP:0002082	Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Ataxia	HP:0001251	HP:0007157	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Hemiparesis	HP:0001269	None	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
Meningitis	HP:0001287	None	Inflammation of the meninges.
Gait disturbance	HP:0001288	HP:0006953	The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Confusion	HP:0001289	HP:0000731	Lack of clarity and coherence of thought, perception, understanding, or action.
Hyperreflexia	HP:0001347	HP:0007318	Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
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
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.
Subcutaneous nodule	HP:0001482	HP:0005903	Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
Growth abnormality	HP:0001507	HP:0008904	None
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 myocardium morphology	HP:0001637	None	A structural anomaly of the muscle layer of the heart wall.
Encephalitis	HP:0002383	None	None
Abnormality of the pancreas	HP:0001732	None	An abnormality of the pancreas.
Pancreatitis	HP:0001733	None	The presence of inflammation in the pancreas.
Abnormality of the spleen	HP:0001743	None	An abnormality of the spleen.
Splenomegaly	HP:0001744	HP:0006269	Abnormal increased size of the spleen.
Vestibular dysfunction	HP:0001751	HP:0007921	An abnormality of the functioning of the vestibular apparatus.
Weight loss	HP:0001824	None	Reduction of total body weight.
Abnormality of blood and blood-forming tissues	HP:0001871	HP:0003135	An abnormality of the hematopoietic system.
Abnormal bleeding	HP:0001892	HP:0008183	An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Abnormality of metabolism/homeostasis	HP:0001939	HP:0004367	None
Fever	HP:0001945	None	Body temperature elevated above the normal range.
Abnormal tendon morphology	HP:0100261	None	An abnormality of the structure or form of the tendons, also often called sinews.
Abnormal thrombosis	HP:0001977	None	Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
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.
Immunologic hypersensitivity	HP:0100326	None	Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.
Malabsorption	HP:0002024	HP:0008270	Impaired ability to absorb one or more nutrients from the intestine.
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.
Anorexia	HP:0002039	None	A lack or loss of appetite for food (as a medical condition).
Migraine	HP:0002076	HP:0007194	Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
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.
Pleuritis	HP:0002102	None	Inflammation of the pleura.
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.
Hemoptysis	HP:0002105	None	Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
Pulmonary infiltrates	HP:0002113	None	None
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.
Cognitive impairment	HP:0100543	HP:0007211	Abnormal cognition with deficits in thinking, reasoning, or remembering.
Gastrointestinal hemorrhage	HP:0002239	None	Hemorrhage affecting the gastrointestinal tract.
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.
Endocarditis	HP:0100584	None	An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.
Myositis	HP:0100614	None	A general term for inflammation of the muscles without respect to the underlying cause.
Headache	HP:0002315	HP:0001354	Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Vertigo	HP:0002321	None	An abnormal sensation of spinning while the body is actually stationary.
Optic neuritis	HP:0100653	None	Inflammation of the optic nerve.
Retrobulbar optic neuritis	HP:0100654	None	Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.
Reduced visual acuity	HP:0007663	HP:0008008	None
Abnormality of the vasculature	HP:0002597	None	An abnormality of the vasculature.
Vasculitis	HP:0002633	None	Inflammation of blood vessel.
Lymphadenopathy	HP:0002716	HP:0002735	Enlargment (swelling) of a lymph node.
Abnormality of the lymph nodes	HP:0002733	HP:0008149	A lymph node abnormality.
Abnormal respiratory system physiology	HP:0002795	None	None
Abnormality of limb bone morphology	HP:0002813	None	Any abnormality of bones of the arms or legs.
Abnormality of the upper limb	HP:0002817	HP:0003838	An abnormality of the arm.
Arthralgia	HP:0002829	None	Joint pain.
Rheumatoid factor positive	HP:0002923	None	The presence in the serum of an autoantibody directed against the Fc portion of IgG.
Autoimmunity	HP:0002960	None	The occurrence of an immune reaction against the organism's own cells or tissues.
Abnormality of the musculature	HP:0003011	HP:0040290	Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
Arthropathy	HP:0003040	None	None
Visceromegaly	HP:0003271	None	Abnormal increased size of the viscera of the abdomen.
Myalgia	HP:0003326	HP:0003718	Pain in muscle.
Skin nodule	HP:0200036	None	Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.
Somatic sensory dysfunction	HP:0003474	HP:0100964	An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.
Abnormal endocardium morphology	HP:0004306	HP:0005260	An abnormality of the endocardium.
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.
Abnormal anterior eye segment morphology	HP:0004328	None	An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).
Abnormal posterior eye segment morphology	HP:0004329	None	None
Abnormality of temperature regulation	HP:0004370	None	An abnormality of temperature homeostasis.
Reduced consciousness/confusion	HP:0004372	None	None
Hemiplegia/hemiparesis	HP:0004374	None	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
Arterial thrombosis	HP:0004420	None	The formation of a blood clot inside an artery.
Venous thrombosis	HP:0004936	None	Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
Polyarticular arthropathy	HP:0005195	None	None
Polyarticular arthritis	HP:0005764	None	None
Abnormal finger phalanx morphology	HP:0005918	HP:0006259	Abnormalities affecting the phalanx of finger.
Interphalangeal joint erosions	HP:0006252	None	None
Abnormal phalangeal joint morphology of the hand	HP:0006261	HP:0004266	None
Cranial nerve paralysis	HP:0006824	HP:0002377	None
Abnormal pyramidal sign	HP:0007256	HP:0007347	Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Abnormality of limbs	HP:0040064	None	None
Abnormality of limb bone	HP:0040068	None	None
Abnormal arterial physiology	HP:0025323	None	An anomaly of arterial function.
Red eye	HP:0025337	None	A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.
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.
Abnormality of the male genitalia	HP:0010461	None	Abnormality of the male genital system.
Weakness due to upper motor neuron dysfunction	HP:0010549	None	Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.
Abnormal circulating protein concentration	HP:0010876	None	An abnormal level of a circulating protein in the blood.
Avascular necrosis	HP:0010885	None	A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.
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.
Abnormality of the gastrointestinal tract	HP:0011024	None	An abnormality of the gastrointestinal tract.
Abnormal cardiovascular system physiology	HP:0011025	None	Abnormal functionality of the cardiovascular system.
Abnormality of blood circulation	HP:0011028	None	An abnormality of blood circulation.
Abnormality of fluid regulation	HP:0011032	None	An abnormality of the regulation of body fluids.
Abnormal renal cortex morphology	HP:0011035	None	An abnormality of the cortex of the kidney.
Abnormality of skin morphology	HP:0011121	None	Any morphological abnormality of the skin.
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
Abnormal digit morphology	HP:0011297	None	A morphological abnormality of a digit, i.e., of a finger or toe.
Localized skin lesion	HP:0011355	None	A lesion of the skin that is located in a specific region rather than being generalized.
Functional abnormality of the inner ear	HP:0011389	None	An abnormality of the function of the inner ear.
Abnormal central motor function	HP:0011442	None	An anomaly of the control or production of movement in the central nervous system.
Abnormality of higher mental function	HP:0011446	None	Cognitive, psychiatric or memory anomaly.
Unusual CNS infection	HP:0011450	None	A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.
Abdominal symptom	HP:0011458	None	A subjective manifestation of disease localized to the abdomen.
Abnormal corneal epithelium morphology	HP:0011495	None	Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.
Abnormality of joint mobility	HP:0011729	None	An abnormality in the range and ease of motion of joints across their normal range.
Abnormal skeletal muscle morphology	HP:0011805	HP:0003735	A structural abnormality of a skeletal muscle.
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.
Abnormality of musculoskeletal physiology	HP:0011843	None	An abnormality of the function of the skeletal system.
Abnormal appendicular skeleton morphology	HP:0011844	None	An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.
Abnormal eye physiology	HP:0012373	None	A functional anomaly of the eye.
Fatigue	HP:0012378	None	A subjective feeling of tiredness characterized by a lack of energy and motivation.
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 nephron morphology	HP:0012575	None	A structural anomaly of the nephron.
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.
Abnormality of intracranial pressure	HP:0012640	None	A deviation from the norm of the intracranial pressure.
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.
Neurodevelopmental abnormality	HP:0012759	None	A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.
Autoimmune antibody positivity	HP:0030057	None	The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.
Abnormal vascular physiology	HP:0030163	None	Abnormality of vascular function.
Abnormal ocular adnexa morphology	HP:0030669	None	A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
Abnormality of cardiovascular system morphology	HP:0030680	HP:0002565	Any structural anomaly of the heart and great vessels.
Abnormality of pulmonary circulation	HP:0030875	None	A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.
Abnormal mitral valve physiology	HP:0031481	None	Any functional anomaly of the mitral valve.
Abnormal atrioventricular valve physiology	HP:0031650	None	Any functional defect of the mitral or tricuspid valve.
Abnormal aortic valve physiology	HP:0031652	None	None
Abnormal heart valve physiology	HP:0031653	None	Any functional abnormality of a cardiac valve.
Abnormal ear physiology	HP:0031704	None	Any functional anomaly of the ear.
Abnormal oral morphology	HP:0031816	None	Any structural anomaly of the mouth, which is also known as the oral cavity.
Abnormal reflex	HP:0031826	None	Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur).
Abnormal cranial nerve physiology	HP:0031910	None	A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.
Abnormal pulmonary thoracic imaging finding	HP:0031983	None	This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.
Abnormal sputum	HP:0032016	None	Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.
Abnormality of the ocular adnexa	HP:0032039	None	An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
Aphthous ulcer	HP:0032154	None	Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
Gangrene	HP:0100758	None	A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).
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 blistering of the skin	HP:0008066	HP:0200038	The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
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.
Abnormality of pancreas physiology	HP:0012091	None	An anomaly of the function of the pancreas.
Digital flexor tenosynovitis	HP:0012276	None	Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit.
Unusual infection	HP:0032101	None	A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.
Unusual infection by anatomical site	HP:0032158	None	An unusual infection classified by the affected body part.
Mitral regurgitation	HP:0001653	None	An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Memory impairment	HP:0002354	HP:0002081	An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
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.
Abnormality of the eye	HP:0000478	None	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
Abnormal retinal morphology	HP:0000479	HP:0007938	A structural abnormality of the retina.
Abnormal cornea morphology	HP:0000481	HP:0007972	Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.
Retinopathy	HP:0000488	None	Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Keratitis	HP:0000491	None	Inflammation of the cornea.
Abnormal conjunctiva morphology	HP:0000502	None	An abnormality of the conjunctiva.
Abnormality of vision	HP:0000504	None	Abnormality of eyesight (visual perception).
Visual impairment	HP:0000505	HP:0007983	Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Conjunctivitis	HP:0000509	None	Inflammation of the conjunctiva.
Abnormality of the lens	HP:0000517	None	An abnormality of the lens.
Cataract	HP:0000518	HP:0010700	A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Abnormal blood vessel morphology	HP:0033353	None	Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).
Abnormality of the optic nerve	HP:0000587	None	Abnormality of the optic nerve.
Neuroinflammation	HP:0033429	None	Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.
Abnormality of the nervous system	HP:0000707	HP:0006987	An abnormality of the nervous system.
Aortic regurgitation	HP:0001659	None	An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
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).
Abnormality of movement	HP:0100022	HP:0001294	An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
Upper motor neuron dysfunction	HP:0002493	None	A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.
Orchitis	HP:0100796	None	Testicular inflammation.
Increased intracranial pressure	HP:0002516	None	An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
Glomerulopathy	HP:0100820	None	Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.
Abnormal emotion/affect behavior	HP:0100851	None	An abnormality of emotional behaviour.
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.
Abnormality of coordination	HP:0011443	None	None
Abnormal renal morphology	HP:0012210	HP:0008712	Any structural anomaly of the kidney.
Abnormal renal physiology	HP:0012211	HP:0008646	An abnormal functionality of the kidney.
Abnormal reproductive system morphology	HP:0012243	None	A structural or developmental anomaly of any of the tissues involved in the genital system.
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 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.
Renal insufficiency	HP:0000083	HP:0004723	A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Anti-citrullinated protein antibody positivity	HP:0033034	None	The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.
Abnormality of the face	HP:0000271	None	An abnormality of the face.
Tissue ischemia	HP:0033401	None	Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.
Myocardial infarction	HP:0001658	None	Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
Limitation of joint mobility	HP:0001376	HP:0003101	A reduction in the freedom of movement of one or more joints.
Joint stiffness	HP:0001387	HP:0003033	Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Nausea and vomiting	HP:0002017	None	Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.
Pulmonary embolism	HP:0002204	None	An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
Cerebral ischemia	HP:0002637	None	None
Abnormality of the immune system	HP:0002715	HP:0010986	An abnormality of the immune system.
Papule	HP:0200034	None	A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.
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.
Swan neck-like deformities of the fingers	HP:0006150	None	A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.
Internal hemorrhage	HP:0011029	None	The presence of hemorrhage within the body.
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.
Abnormal renal corpuscle morphology	HP:0031263	None	Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.